#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_Codon	i_COSMIC_Gene	i_COSMIC_Gene_Freq	i_COSMIC_Site_Freq	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_IGV	i_Mutation_Status	i_NTotCov_SOL	i_NVaf_SOL	i_NVarCov_SOL	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_TTotCov_SOL	i_TVaf_SOL	i_TVarCov_SOL	i_Transcript_Id	i_Ttot_rna	i_Tvaf_rna	i_Tvar_rna	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_dbSNPPopFreq	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_germline-maf-frequency	i_havana_transcript	i_note	i_refseq_mrna_id	i_secondary_variant_classification
MORN1	79906	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	2252853	2252853	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr1:2252853C>T	ENST00000378531.3	-	14	1636	c.1463G>A	c.(1462-1464)aGc>aAc	p.S488N		NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1	488										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		TGGGGTGCAGCTGTGGGCGGC	0.657																																					p.S488N													.	.			0			c.G1463A												15.0	21.0	19.0					1																	2252853		1913	3767	5680	SO:0001583	missense	79906	exon14			GTGCAGCTGTGGG	AK024003	CCDS40.1, CCDS72688.1	1p36.33-p36.32	2008-02-05			ENSG00000116151	ENSG00000116151			25852	protein-coding gene	gene with protein product						12477932	Standard	XM_005244798		Approved	FLJ13941	uc001ajb.1	Q5T089	OTTHUMG00000001402	ENST00000378531.3:c.1463G>A	1.37:g.2252853C>T	ENSP00000367792:p.Ser488Asn		Somatic	63	0	0		WXS	Illumina HiSeq	.	37	0.41	15	NM_024848	6	1.00	6	A6NKZ6|Q8WW30|Q9H852	Missense_Mutation	SNP	ENST00000378531.3	37	CCDS40.1	.	.	.	.	.	.	.	.	.	.	C	7.921	0.738577	0.15642	.	.	ENSG00000116151	ENST00000378531	T	0.49139	0.79	2.87	-5.52	0.02560	.	16.297900	0.00166	N	0.000000	T	0.20455	0.0492	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.07520	-1.0768	10	0.17832	T	0.49	.	0.1401	0.00082	0.3016:0.2439:0.1505:0.3041	.	488	Q5T089	MORN1_HUMAN	N	488	ENSP00000367792:S488N	ENSP00000367792:S488N	S	-	2	0	MORN1	2242713	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.034000	0.03567	-1.315000	0.02297	0.561000	0.74099	AGC			0.657	MORN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000004055.1		NM_024848	
ECE1	1889	mdanderson.org	37	1	21585201	21585201	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr1:21585201G>T	ENST00000374893.6	-	6	821	c.747C>A	c.(745-747)aaC>aaA	p.N249K	ECE1_ENST00000415912.2_Missense_Mutation_p.N233K|ECE1_ENST00000436918.2_Missense_Mutation_p.N249K|ECE1_ENST00000264205.6_Missense_Mutation_p.N246K|ECE1_ENST00000357071.4_Missense_Mutation_p.N237K|ECE1_ENST00000528294.1_5'Flank	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	249					bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814)	early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		TCACGTTGCTGTTGGAGTTCT	0.582																																					p.N249K													.	.			0			c.C747A												157.0	125.0	136.0					1																	21585201		2203	4300	6503	SO:0001583	missense	1889	exon6			GTTGCTGTTGGAG	D49471	CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1	1p36.1	2008-02-05			ENSG00000117298	ENSG00000117298			3146	protein-coding gene	gene with protein product		600423		ECE		7805846, 7864876, 17592116	Standard	NM_001397		Approved		uc001bei.2	P42892	OTTHUMG00000002625	ENST00000374893.6:c.747C>A	1.37:g.21585201G>T	ENSP00000364028:p.Asn249Lys		Somatic	111	0	0		WXS	Illumina HiSeq	Phase_I	105	0.05	5	NM_001397	71	0.00	0	A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Missense_Mutation	SNP	ENST00000374893.6	37	CCDS215.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.719768	0.68844	.	.	ENSG00000117298	ENST00000415912;ENST00000357071;ENST00000374893;ENST00000436918;ENST00000264205	T;T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69;-0.69	5.1	1.11	0.20524	Peptidase M13 (1);	0.000000	0.85682	D	0.000000	T	0.72787	0.3504	L	0.55481	1.735	0.58432	D	0.999993	B;D;B;D;D	0.64830	0.118;0.969;0.259;0.986;0.994	B;P;B;P;D	0.63033	0.06;0.876;0.125;0.878;0.91	T	0.69018	-0.5256	10	0.59425	D	0.04	-38.2595	4.0817	0.09929	0.3283:0.0:0.5161:0.1555	.	249;233;249;237;246	B4DKB2;Q2Z2K8;P42892;P42892-2;P42892-4	.;.;ECE1_HUMAN;.;.	K	233;237;249;249;246	ENSP00000405088:N233K;ENSP00000349581:N237K;ENSP00000364028:N249K;ENSP00000388439:N249K;ENSP00000264205:N246K	ENSP00000264205:N246K	N	-	3	2	ECE1	21457788	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	2.761000	0.47589	0.188000	0.20168	-0.282000	0.10007	AAC			0.582	ECE1-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000007470.2		NM_001397	
COL8A2	1296	broad.mit.edu;mdanderson.org	37	1	36565807	36565807	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr1:36565807G>T	ENST00000397799.1	-	3	261	c.37C>A	c.(37-39)Ctg>Atg	p.L13M	COL8A2_ENST00000481785.1_De_novo_Start_OutOfFrame|COL8A2_ENST00000303143.4_Missense_Mutation_p.L13M			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	13					angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|collagen catabolic process (GO:0030574)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				agtagcagcagcagcagcGAA	0.652											OREG0013361	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L13M													.	COL8A2	41		0			c.C37A												10.0	10.0	10.0					1																	36565807		2191	4280	6471	SO:0001583	missense	1296	exon1			GCAGCAGCAGCAG	M60832	CCDS403.1, CCDS72756.1	1p34.2-p32.3	2014-02-14			ENSG00000171812	ENSG00000171812		"""Collagens"""	2216	protein-coding gene	gene with protein product		120252		FECD		11689488	Standard	XM_005270477		Approved	PPCD, FECD1, PPCD2	uc001bzv.2	P25067	OTTHUMG00000007665	ENST00000397799.1:c.37C>A	1.37:g.36565807G>T	ENSP00000380901:p.Leu13Met		Somatic	50	0	0	863	WXS	Illumina HiSeq	Phase_I	51	0.06	3	NM_005202	6	0.00	0	Q5JV31|Q8TEJ5	Translation_Start_Site	SNP	ENST00000397799.1	37	CCDS403.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.732714	0.30684	.	.	ENSG00000171812	ENST00000303143;ENST00000397799;ENST00000373172	D;D	0.92858	-3.12;-3.12	3.44	3.44	0.39384	.	0.775342	0.11728	N	0.535215	D	0.84156	0.5410	N	0.22421	0.69	0.80722	D	1	P	0.36959	0.575	B	0.28232	0.087	T	0.81848	-0.0744	10	0.37606	T	0.19	.	12.219	0.54423	0.0:0.0:1.0:0.0	.	13	P25067	CO8A2_HUMAN	M	13	ENSP00000305913:L13M;ENSP00000380901:L13M	ENSP00000305913:L13M	L	-	1	2	COL8A2	36338394	1.000000	0.71417	0.139000	0.22197	0.655000	0.38815	2.023000	0.41040	1.928000	0.55862	0.491000	0.48974	CTG			0.652	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000313674.1		NM_005202	
CSF1	1435	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	110459933	110459933	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr1:110459933C>T	ENST00000329608.6	+	4	635	c.244C>T	c.(244-246)Ctt>Ttt	p.L82F	CSF1_ENST00000369801.1_Missense_Mutation_p.L82F|CSF1_ENST00000344188.5_Missense_Mutation_p.L82F|CSF1_ENST00000526001.1_3'UTR|CSF1_ENST00000369802.3_Missense_Mutation_p.L82F|CSF1_ENST00000420111.2_Missense_Mutation_p.L82F	NM_000757.5|NM_172211.3	NP_000748|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	82					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|developmental process involved in reproduction (GO:0003006)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary duct terminal end bud growth (GO:0060763)|mammary gland fat development (GO:0060611)|monocyte activation (GO:0042117)|odontogenesis (GO:0042476)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|osteoclast proliferation (GO:0002158)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of macrophage derived foam cell differentiation (GO:0010743)|regulation of ossification (GO:0030278)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|macrophage colony-stimulating factor receptor binding (GO:0005157)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGTGTGCTACCTTAAGAAGGC	0.532																																					p.L82F													.	.			0			c.C244T												187.0	176.0	180.0					1																	110459933		2203	4300	6503	SO:0001583	missense	1435	exon4			TGCTACCTTAAGA	BC021117	CCDS816.1, CCDS817.1, CCDS30797.1	1p13.3	2012-09-20			ENSG00000184371	ENSG00000184371			2432	protein-coding gene	gene with protein product		120420				1540160	Standard	NM_172210		Approved	M-CSF, MCSF, MGC31930	uc001dyw.4	P09603	OTTHUMG00000011646	ENST00000329608.6:c.244C>T	1.37:g.110459933C>T	ENSP00000327513:p.Leu82Phe		Somatic	88	0	0		WXS	Illumina HiSeq	.	77	0.32	25	NM_172210	18	0.44	8	A8K6J5|Q13130|Q14086|Q14806|Q5VVF3|Q5VVF4|Q9UQR8	Missense_Mutation	SNP	ENST00000329608.6	37	CCDS816.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.296377	0.60086	.	.	ENSG00000184371	ENST00000527192;ENST00000525659;ENST00000357302;ENST00000344188;ENST00000329608;ENST00000488198;ENST00000369802;ENST00000420111;ENST00000369801	T;T;T;T;T;T;T;T;T	0.15256	2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44	5.18	-0.213	0.13165	Four-helical cytokine-like, core (1);	0.409611	0.21442	N	0.074470	T	0.18341	0.0440	M	0.69823	2.125	0.30789	N	0.741129	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.76071	0.987;0.985;0.981	T	0.03043	-1.1079	10	0.72032	D	0.01	.	4.3642	0.11216	0.4561:0.3715:0.0:0.1724	.	82;82;82	P09603-3;P09603;P09603-2	.;CSF1_HUMAN;.	F	89;41;82;82;82;41;82;82;82	ENSP00000434527:L89F;ENSP00000431547:L41F;ENSP00000349854:L82F;ENSP00000342718:L82F;ENSP00000327513:L82F;ENSP00000433837:L41F;ENSP00000358817:L82F;ENSP00000407317:L82F;ENSP00000358816:L82F	ENSP00000327513:L82F	L	+	1	0	CSF1	110261456	1.000000	0.71417	0.779000	0.31741	0.867000	0.49689	0.856000	0.27818	-0.329000	0.08527	0.561000	0.74099	CTT			0.532	CSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000032208.1		NM_000757	
OVGP1	5016	bcgsc.ca	37	1	111957533	111957533	+	Silent	SNP	C	C	T	rs112145355		TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr1:111957533C>T	ENST00000369732.3	-	11	1645	c.1590G>A	c.(1588-1590)caG>caA	p.Q530Q		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	530					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		GGGTCACAGACTGATGACCCA	0.542																																					p.Q530Q													.	OVGP1	177		0			c.G1590A												59.0	57.0	58.0					1																	111957533		2197	4207	6404	SO:0001819	synonymous_variant	5016	exon11			CACAGACTGATGA	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.1590G>A	1.37:g.111957533C>T			Somatic	100	0.01	1		WXS	Illumina HiSeq	Phase_1	30	0.17	5	NM_002557	0		0	A0AV19|B9EGE1|Q15841	Silent	SNP	ENST00000369732.3	37	CCDS834.1																																																																																					0.542	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000032461.1		NM_002557	
CELF3	11189	hgsc.bcm.edu	37	1	151678722	151678722	+	Silent	SNP	T	T	C			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr1:151678722T>C	ENST00000290583.4	-	10	1897	c.1104A>G	c.(1102-1104)caA>caG	p.Q368Q	CELF3_ENST00000290585.4_Silent_p.Q318Q|RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000470688.1_5'UTR|CELF3_ENST00000392706.3_Silent_p.Q163Q	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	368	Gln-rich.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						gctgctgctgttgctgctgct	0.657																																					p.Q368Q													CELF3,caecum,carcinoma,0,1	CELF3	0	1	0			c.A1104G												19.0	20.0	20.0					1																	151678722		2200	4297	6497	SO:0001819	synonymous_variant	11189	exon10			CTGCTGTTGCTGC	U80759	CCDS1002.1, CCDS53367.1	1q21	2013-02-12	2010-02-19	2010-02-19	ENSG00000159409	ENSG00000159409		"""Trinucleotide (CAG) repeat containing"", ""RNA binding motif (RRM) containing"""	11967	protein-coding gene	gene with protein product	"""expanded repeat domain, CAG/CTG 4"", ""CAG repeat domain"", ""CUG-BP and ETR-3 like factor 3"""	612678	"""trinucleotide repeat containing 4"""	TNRC4		9225980	Standard	XM_005244859		Approved	CAGH4, BRUNOL1, ERDA4, MGC57297	uc001eys.2	Q5SZQ8	OTTHUMG00000013064	ENST00000290583.4:c.1104A>G	1.37:g.151678722T>C			Somatic	40	0.025	1		WXS	Illumina HiSeq	.	35	0.09	3	NM_007185	0		0	B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	Silent	SNP	ENST00000290583.4	37	CCDS1002.1	.	.	.	.	.	.	.	.	.	.	.	4.938	0.174339	0.09391	.	.	ENSG00000159409	ENST00000420342	.	.	.	3.25	1.39	0.22231	.	.	.	.	.	T	0.36496	0.0969	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.19943	-1.0290	4	.	.	.	-0.0118	5.4728	0.16680	0.0:0.7409:0.0:0.2591	.	.	.	.	S	369	.	.	N	-	2	0	CELF3	149945346	0.076000	0.21285	1.000000	0.80357	0.644000	0.38419	-0.812000	0.04496	0.416000	0.25844	-0.389000	0.06534	AAC			0.657	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000036663.2		NM_007185	
RUSC1	23623	broad.mit.edu	37	1	155292770	155292770	+	Silent	SNP	A	A	C			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr1:155292770A>C	ENST00000368352.5	+	2	1357	c.1206A>C	c.(1204-1206)ccA>ccC	p.P402P	RUSC1_ENST00000368347.4_5'Flank|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1_ENST00000368349.4_5'Flank|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1_ENST00000368354.3_Silent_p.P402P|RUSC1_ENST00000292254.4_5'Flank	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	402					positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CCCGGCCCCCACCCCCGCCTG	0.726																																					p.P402P													.	RUSC1	85		0			c.A1206C																																									SO:0001819	synonymous_variant	23623	exon2			GCCCCCACCCCCG	AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.1206A>C	1.37:g.155292770A>C			Somatic	24	0.3333333333	8		WXS	Illumina HiSeq	Phase_I	60	0.40	24	NM_001105204	1	0.00	0	B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Silent	SNP	ENST00000368352.5	37	CCDS41410.1																																																																																					0.726	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000039071.1			
METTL13	51603	broad.mit.edu	37	1	171761355	171761355	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr1:171761355G>T	ENST00000361735.3	+	6	1939	c.1673G>T	c.(1672-1674)aGc>aTc	p.S558I	METTL13_ENST00000466643.1_3'UTR|METTL13_ENST00000458517.1_Missense_Mutation_p.S557I|METTL13_ENST00000367737.5_Missense_Mutation_p.S402I|METTL13_ENST00000362019.3_Missense_Mutation_p.S472I	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	558							methyltransferase activity (GO:0008168)			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						TATATCGCCAGCTTGGCAGGA	0.542																																					p.S558I													.	METTL13	67		0			c.G1673T												120.0	105.0	110.0					1																	171761355		2203	4300	6503	SO:0001583	missense	51603	exon6			TCGCCAGCTTGGC	AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"""KIAA0859"""	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.1673G>T	1.37:g.171761355G>T	ENSP00000354920:p.Ser558Ile		Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	161	0.02	4	NM_015935	51	0.00	0	A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Missense_Mutation	SNP	ENST00000361735.3	37	CCDS1299.1	.	.	.	.	.	.	.	.	.	.	G	7.945	0.743662	0.15642	.	.	ENSG00000010165	ENST00000458517;ENST00000362019;ENST00000367737;ENST00000361735;ENST00000367736;ENST00000341850	T;T;T;T;T	0.77098	-0.26;-0.26;-0.26;-0.26;-1.07	5.38	1.93	0.25924	.	0.443608	0.29624	N	0.011630	T	0.63780	0.2540	L	0.55990	1.75	0.35518	D	0.801235	P;P;B	0.49783	0.539;0.928;0.364	B;P;B	0.48089	0.36;0.566;0.36	T	0.61332	-0.7084	10	0.36615	T	0.2	-25.0719	8.6413	0.33978	0.2022:0.1283:0.6695:0.0	.	557;402;558	B4E2X3;Q8N6R0-1;Q8N6R0	.;.;MTL13_HUMAN	I	557;472;402;558;258;255	ENSP00000401955:S557I;ENSP00000355393:S472I;ENSP00000356711:S402I;ENSP00000354920:S558I;ENSP00000356710:S258I	ENSP00000341732:S255I	S	+	2	0	METTL13	170027978	0.988000	0.35896	0.829000	0.32907	0.015000	0.08874	1.316000	0.33620	0.617000	0.30160	-0.150000	0.13652	AGC			0.542	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000084528.5		NM_014955	
XPR1	9213	broad.mit.edu	37	1	180756959	180756959	+	Silent	SNP	A	A	G			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr1:180756959A>G	ENST00000367590.4	+	3	390	c.192A>G	c.(190-192)aaA>aaG	p.K64K	XPR1_ENST00000367589.3_Silent_p.K64K	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	64	SPX. {ECO:0000255|PROSITE- ProRule:PRU00714}.				G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						CCTGTGAAAAAGAACTTGCCA	0.323																																					p.K64K													.	XPR1	76		0			c.A192G												98.0	110.0	106.0					1																	180756959		2203	4299	6502	SO:0001819	synonymous_variant	9213	exon3			TGAAAAAGAACTT	AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"""xenotropic and polytropic retrovirus receptor"""			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.192A>G	1.37:g.180756959A>G			Somatic	381	0	0		WXS	Illumina HiSeq	Phase_I	540	0.01	5	NM_001135669	20	0.00	0	O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Silent	SNP	ENST00000367590.4	37	CCDS1340.1																																																																																					0.323	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000084996.2		NM_004736	
RGS7	6000	broad.mit.edu	37	1	240975327	240975327	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr1:240975327G>A	ENST00000407727.1	-	13	972	c.973C>T	c.(973-975)Cag>Tag	p.Q325*	RGS7_ENST00000348120.2_Nonsense_Mutation_p.Q272*|RGS7_ENST00000366562.4_Nonsense_Mutation_p.Q325*|RGS7_ENST00000331110.7_Nonsense_Mutation_p.Q299*|RGS7_ENST00000446183.2_Nonsense_Mutation_p.Q241*|RGS7_ENST00000366563.1_Nonsense_Mutation_p.Q325*|RGS7_ENST00000366564.1_Nonsense_Mutation_p.Q325*|RGS7_ENST00000401882.1_Nonsense_Mutation_p.Q272*|RGS7_ENST00000366565.1_Nonsense_Mutation_p.Q325*			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	325					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TTTACCCTCTGCTGGCTCGGT	0.398																																					p.Q325X													RGS7_ENST00000366565,NS,carcinoma,0,2	RGS7	308	2	0			c.C973T												95.0	98.0	97.0					1																	240975327		2203	4300	6503	SO:0001587	stop_gained	6000	exon14			CCCTCTGCTGGCT	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.973C>T	1.37:g.240975327G>A	ENSP00000384428:p.Gln325*		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	137	0.03	4	NM_002924	5	0.00	0	Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Nonsense_Mutation	SNP	ENST00000407727.1	37		.	.	.	.	.	.	.	.	.	.	G	33	5.237736	0.95240	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000440928;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	.	.	.	5.8	5.8	0.92144	.	0.119003	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.9368	19.0419	0.93004	0.0:0.0:1.0:0.0	.	.	.	.	X	299;325;325;325;156;272;241;325;325;272	.	ENSP00000331485:Q299X	Q	-	1	0	RGS7	239041950	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	7.695000	0.84257	2.758000	0.94735	0.561000	0.74099	CAG			0.398	RGS7-204	KNOWN	basic	protein_coding	protein_coding				NM_002924	
BEND7	222389	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	13541880	13541880	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr10:13541880C>T	ENST00000396900.2	-	3	345	c.346G>A	c.(346-348)Gtg>Atg	p.V116M	BEND7_ENST00000341083.3_Missense_Mutation_p.V64M|BEND7_ENST00000378605.3_Missense_Mutation_p.V64M|BEND7_ENST00000396898.2_Missense_Mutation_p.V116M			Q8N7W2	BEND7_HUMAN	BEN domain containing 7	116						extracellular vesicular exosome (GO:0070062)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						TCATTCCACACACCACGTGAA	0.572																																					p.V64M													.	.			0			c.G190A												79.0	81.0	81.0					10																	13541880		2203	4300	6503	SO:0001583	missense	222389	exon2			TCCACACACCACG	BC031618	CCDS7099.1, CCDS41490.1	10p14	2012-11-22	2008-10-03	2008-10-03	ENSG00000165626	ENSG00000165626		"""BEN domain containing"""	23514	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 30"""	C10orf30			Standard	NM_152751		Approved	FLJ40283	uc001imm.2	Q8N7W2	OTTHUMG00000017699	ENST00000396900.2:c.346G>A	10.37:g.13541880C>T	ENSP00000380108:p.Val116Met		Somatic	149	0	0		WXS	Illumina HiSeq	.	135	0.30	40	NM_001100912	5	0.00	0	Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	Missense_Mutation	SNP	ENST00000396900.2	37		.	.	.	.	.	.	.	.	.	.	C	12.66	2.004613	0.35320	.	.	ENSG00000165626	ENST00000396900;ENST00000341083;ENST00000396898;ENST00000378605	T;T;T;T	0.46063	0.88;0.88;0.92;0.92	5.8	1.28	0.21552	.	0.486751	0.24662	N	0.036623	T	0.19927	0.0479	N	0.08118	0	0.09310	N	1	B;D	0.54964	0.412;0.969	B;B	0.43990	0.087;0.438	T	0.11179	-1.0598	10	0.56958	D	0.05	-0.7471	3.2391	0.06774	0.1166:0.504:0.1142:0.2651	.	116;64	E5RFC0;Q8N7W2-3	.;.	M	116;64;116;64	ENSP00000380108:V116M;ENSP00000345773:V64M;ENSP00000380107:V116M;ENSP00000367868:V64M	ENSP00000345773:V64M	V	-	1	0	BEND7	13581886	0.010000	0.17322	0.031000	0.17742	0.815000	0.46073	-0.059000	0.11731	0.367000	0.24454	0.650000	0.86243	GTG			0.572	BEND7-202	KNOWN	basic	protein_coding	protein_coding				NM_152751	
NRAP	4892	mdanderson.org	37	10	115417240	115417240	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr10:115417240G>T	ENST00000359988.3	-	4	593	c.349C>A	c.(349-351)Ctg>Atg	p.L117M	NRAP_ENST00000369360.3_Missense_Mutation_p.L117M|NRAP_ENST00000369358.4_Missense_Mutation_p.L117M|NRAP_ENST00000360478.3_Missense_Mutation_p.L117M	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TCATTTGCCAGTGGCTGCCTG	0.388																																					p.L117M													.	.			0			c.C349A												143.0	113.0	123.0					10																	115417240		2203	4300	6503	SO:0001583	missense	4892	exon4			TTGCCAGTGGCTG		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.349C>A	10.37:g.115417240G>T	ENSP00000353078:p.Leu117Met		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	57	0.05	3	NM_001261463	0		0		Missense_Mutation	SNP	ENST00000359988.3	37	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	G	2.859	-0.236574	0.05944	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.24151	2.08;2.06;1.96;1.87	5.35	2.45	0.29901	.	0.365196	0.25604	N	0.029523	T	0.17874	0.0429	L	0.40543	1.245	0.09310	N	1	B;B;B	0.18610	0.017;0.029;0.006	B;B;B	0.24848	0.025;0.056;0.025	T	0.20405	-1.0276	10	0.34782	T	0.22	.	3.9648	0.09426	0.3006:0.0:0.5292:0.1702	.	117;117;117	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	M	117	ENSP00000358365:L117M;ENSP00000358367:L117M;ENSP00000353078:L117M;ENSP00000353666:L117M	ENSP00000353078:L117M	L	-	1	2	NRAP	115407230	0.000000	0.05858	0.005000	0.12908	0.028000	0.11728	-0.111000	0.10807	0.225000	0.20959	0.555000	0.69702	CTG			0.388	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050425.2		NM_006175	
TRPM5	29850	mdanderson.org	37	11	2434720	2434720	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr11:2434720G>T	ENST00000155858.6	-	13	1997	c.1989C>A	c.(1987-1989)aaC>aaA	p.N663K	TRPM5_ENST00000533060.1_Missense_Mutation_p.N663K|TRPM5_ENST00000452833.1_Missense_Mutation_p.N665K|TRPM5_ENST00000528453.1_Missense_Mutation_p.N663K	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		AGGTGATGAGGTTGGTATAGA	0.682																																					p.N663K	NSCLC(1;49 61 17205 18850 43201)												.	.			0			c.C1989A												37.0	39.0	39.0					11																	2434720		2198	4299	6497	SO:0001583	missense	29850	exon13			GATGAGGTTGGTA	AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.1989C>A	11.37:g.2434720G>T	ENSP00000155858:p.Asn663Lys		Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	125	0.05	6	NM_014555	0		0		Missense_Mutation	SNP	ENST00000155858.6	37	CCDS31340.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.431349	0.43122	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453;ENST00000437542	T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63	3.97	1.99	0.26369	.	0.063176	0.64402	D	0.000008	T	0.56630	0.1998	L	0.50333	1.59	0.38911	D	0.957537	P;P;B	0.35242	0.492;0.492;0.317	B;B;B	0.34489	0.184;0.184;0.177	T	0.45512	-0.9256	10	0.21014	T	0.42	-28.8489	5.2515	0.15524	0.1992:0.0:0.638:0.1628	.	663;665;663	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	K	657;663;665;663;663;663	ENSP00000434383:N657K;ENSP00000155858:N663K;ENSP00000387965:N665K;ENSP00000434121:N663K;ENSP00000436809:N663K	ENSP00000155858:N663K	N	-	3	2	TRPM5	2391296	1.000000	0.71417	0.998000	0.56505	0.522000	0.34438	1.394000	0.34509	0.245000	0.21373	0.313000	0.20887	AAC			0.682	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000027378.1		NM_014555	
OR51V1	283111	mdanderson.org	37	11	5221498	5221498	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr11:5221498G>T	ENST00000321255.1	-	1	432	c.433C>A	c.(433-435)Ctg>Atg	p.L145M		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	145					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAATTAGTCAGGATGGAGGAA	0.398																																					p.L145M													.	.			0			c.C433A												54.0	57.0	56.0					11																	5221498		2201	4298	6499	SO:0001583	missense	283111	exon1			TAGTCAGGATGGA	BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"""GPCR / Class A : Olfactory receptors"""	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.433C>A	11.37:g.5221498G>T	ENSP00000321729:p.Leu145Met		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	48	0.06	3	NM_001004760	0		0		Missense_Mutation	SNP	ENST00000321255.1	37	CCDS31375.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.037336	0.35989	.	.	ENSG00000176742	ENST00000321255	T	0.17854	2.25	5.27	0.898	0.19264	GPCR, rhodopsin-like superfamily (1);	0.390087	0.18268	N	0.146420	T	0.21145	0.0509	N	0.20304	0.555	0.21740	N	0.999564	D	0.76494	0.999	D	0.79784	0.993	T	0.04723	-1.0931	10	0.87932	D	0	.	6.5769	0.22571	0.2459:0.0:0.6211:0.133	.	145	Q9H2C8	O51V1_HUMAN	M	145	ENSP00000321729:L145M	ENSP00000321729:L145M	L	-	1	2	OR51V1	5178074	0.114000	0.22134	0.538000	0.28064	0.381000	0.30169	0.009000	0.13219	0.330000	0.23485	0.655000	0.94253	CTG			0.398	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000142965.1		NM_001004760	
TAF10	6881	mdanderson.org	37	11	6633037	6633037	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr11:6633037G>A	ENST00000299424.4	-	2	722	c.245C>T	c.(244-246)gCg>gTg	p.A82V	TAF10_ENST00000531760.1_5'UTR|RP11-732A19.2_ENST00000527398.1_RNA	NM_006284.3	NP_006275.1	Q12962	TAF10_HUMAN	TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa	82					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|perinuclear region of cytoplasm (GO:0048471)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|RNA polymerase binding (GO:0070063)|transcription coactivator activity (GO:0003713)						Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CGCGCCACCCGCCGACACCGG	0.672																																					p.A82V													.	.			0			c.C245T												8.0	11.0	10.0					11																	6633037		2145	4232	6377	SO:0001583	missense	6881	exon2			CCACCCGCCGACA	U13991, U25816	CCDS7769.1	11p15.5-p15.2	2006-11-14	2002-08-29	2001-12-07	ENSG00000166337	ENSG00000166337			11543	protein-coding gene	gene with protein product		600475	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, H, 30kD"""	TAF2H, TAF2A		7923369	Standard	NM_006284		Approved	TAFII30	uc001mej.2	Q12962	OTTHUMG00000133402	ENST00000299424.4:c.245C>T	11.37:g.6633037G>A	ENSP00000299424:p.Ala82Val		Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	42	0.07	3	NM_006284	74	0.00	0	O00703|Q13175|Q6FH13	Missense_Mutation	SNP	ENST00000299424.4	37	CCDS7769.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.282366	0.59867	.	.	ENSG00000166337	ENST00000299424	T	0.50813	0.73	4.76	3.84	0.44239	.	0.128117	0.51477	D	0.000082	T	0.36386	0.0965	L	0.38175	1.15	0.50632	D	0.999886	D	0.54964	0.969	B	0.39503	0.301	T	0.33137	-0.9880	10	0.62326	D	0.03	-4.4602	12.7062	0.57061	0.0:0.167:0.833:0.0	.	82	Q12962	TAF10_HUMAN	V	82	ENSP00000299424:A82V	ENSP00000299424:A82V	A	-	2	0	TAF10	6589613	1.000000	0.71417	0.907000	0.35723	0.415000	0.31203	5.962000	0.70364	1.194000	0.43101	0.561000	0.74099	GCG			0.672	TAF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257259.2		NM_006284	
LOC440040	440040	broad.mit.edu	37	11	49831247	49831258	+	RNA	DEL	TTTCTTATTTAT	TTTCTTATTTAT	-	rs142908563|rs147463847|rs557033105|rs57759017|rs3974372		TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	TTTCTTATTTAT	TTTCTTATTTAT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr11:49831247_49831258delTTTCTTATTTAT	ENST00000527477.1	+	0	1518																											TCTTTCTTTCTTTCttatttatttatttattt	0.283																																					.													.	.			0			.																																											0	.			TCTTTCTTTCTTA																													11.37:g.49831247_49831258delTTTCTTATTTAT			Somatic	8	0	0		WXS	Illumina HiSeq	Phase_I	9	0.33	3	.	0		0		RNA	DEL	ENST00000527477.1	37																																																																																						0.283	RP11-707M1.1-003	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000391378.2			
MACROD1	28992	broad.mit.edu;mdanderson.org	37	11	63884330	63884330	+	Intron	SNP	G	G	A			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr11:63884330G>A	ENST00000255681.6	-	3	584				FLRT1_ENST00000246841.3_Silent_p.P197P|RP11-21A7A.3_ENST00000543817.1_RNA	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1						cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|large_intestine(3)|lung(6)|skin(1)	11						CGGGGCTGCCGCACACGCTGG	0.652																																					p.P197P													.	FLRT1	46		0			c.G591A												26.0	24.0	25.0					11																	63884330		2185	4269	6454	SO:0001627	intron_variant	23769	exon2			GCTGCCGCACACG	AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.517+34380C>T	11.37:g.63884330G>A			Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	39	0.08	3	NM_013280	2	0.00	0	Q9UH96	Silent	SNP	ENST00000255681.6	37	CCDS8056.1																																																																																					0.652	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396570.1		NM_014067	
RPS6KA4	8986	mdanderson.org	37	11	64135945	64135945	+	Silent	SNP	G	G	T			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr11:64135945G>T	ENST00000334205.4	+	11	1271	c.1206G>T	c.(1204-1206)tcG>tcT	p.S402S	RPS6KA4_ENST00000528057.1_Intron|RPS6KA4_ENST00000294261.4_Intron|MIR1237_ENST00000408346.1_RNA	NM_003942.2	NP_003933.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	402					axon guidance (GO:0007411)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|negative regulation of cytokine production (GO:0001818)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|mitogen-activated protein kinase p38 binding (GO:0048273)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						tCCAGGACTCGCCCTTCTTCC	0.711																																					p.S402S													.	.			0			c.G1206T												10.0	12.0	11.0					11																	64135945		2106	4142	6248	SO:0001819	synonymous_variant	8986	exon11			GGACTCGCCCTTC	AJ010119	CCDS8073.1, CCDS73313.1	11q11-q13	2011-04-05	2002-08-29		ENSG00000162302	ENSG00000162302			10433	protein-coding gene	gene with protein product		603606	"""ribosomal protein S6 kinase, 90kD, polypeptide 4"""			9792677, 9687510	Standard	XM_005274379		Approved	RSK-B, MSK2	uc001oae.3	O75676	OTTHUMG00000046094	ENST00000334205.4:c.1206G>T	11.37:g.64135945G>T			Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	43	0.07	3	NM_003942	25	0.00	0	A8K7Z8|O75585|Q53ES8	Silent	SNP	ENST00000334205.4	37	CCDS8073.1																																																																																					0.711	RPS6KA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000106246.2		NM_003942	
C11orf65	160140	hgsc.bcm.edu;broad.mit.edu	37	11	108256666	108256666	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr11:108256666G>T	ENST00000529391.1	-	7	777	c.768C>A	c.(766-768)aaC>aaA	p.N256K	C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Missense_Mutation_p.N207K|C11orf65_ENST00000393084.1_Missense_Mutation_p.N256K			Q8NCR3	CK065_HUMAN	chromosome 11 open reading frame 65	256										endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		TAGCCGAAGAGTTGCTTGTAG	0.333																																					p.N256K													.	.			0			c.C768A												171.0	178.0	175.0					11																	108256666		2201	4298	6499	SO:0001583	missense	160140	exon8			CGAAGAGTTGCTT	BC059411	CCDS8340.1	11q22.3	2012-05-30			ENSG00000166323	ENSG00000166323			28519	protein-coding gene	gene with protein product						12477932	Standard	NM_152587		Approved	MGC33948	uc001pkh.3	Q8NCR3	OTTHUMG00000166489	ENST00000529391.1:c.768C>A	11.37:g.108256666G>T	ENSP00000436400:p.Asn256Lys		Somatic	126	0	0		WXS	Illumina HiSeq	.	95	0.04	4	NM_152587	0		0	B4DZU4|Q6PCA8	Missense_Mutation	SNP	ENST00000529391.1	37	CCDS8340.1	.	.	.	.	.	.	.	.	.	.	G	6.522	0.464619	0.12402	.	.	ENSG00000166323	ENST00000525729;ENST00000529391;ENST00000393084	.	.	.	5.77	2.74	0.32292	.	0.626305	0.16754	N	0.200886	T	0.35885	0.0947	L	0.43152	1.355	0.28331	N	0.921788	B;B	0.11235	0.004;0.004	B;B	0.13407	0.009;0.006	T	0.29458	-1.0011	9	0.07813	T	0.8	-3.0673	12.0171	0.53319	0.0:0.5039:0.3668:0.1293	.	207;256	B4DZU4;Q8NCR3	.;CK065_HUMAN	K	207;256;256	.	ENSP00000376799:N256K	N	-	3	2	C11orf65	107761876	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	0.551000	0.23361	0.293000	0.22520	-0.172000	0.13284	AAC			0.333	C11orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390010.3		NM_152587	
HEPN1	641654	mdanderson.org	37	11	124793237	124793237	+	IGR	SNP	T	T	C			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr11:124793237T>C	ENST00000408930.5	+	0	1428				HEPACAM_ENST00000298251.4_Splice_Site_p.R268G	NM_001037558.2	NP_001032647.2	Q6WQI6	HEPN1_HUMAN	hepatocellular carcinoma, down-regulated 1							cytoplasm (GO:0005737)				large_intestine(1)|lung(1)|stomach(1)	3	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287)		TACCCAGACCTTTTGGAGGGT	0.488																																					p.R268G													.	.			0			c.A802G												160.0	158.0	159.0					11																	124793237		2201	4299	6500	SO:0001628	intergenic_variant	220296	exon4			CAGACCTTTTGGA	BC148521	CCDS41729.1	11q24	2013-07-02	2011-02-11		ENSG00000221932	ENSG00000221932			34400	protein-coding gene	gene with protein product	"""cancer susceptibility gene HEPN1"""	611641	"""HEPACAM opposite strand 1"""			12971969, 23548416	Standard	NM_001037558		Approved		uc001qbj.1	Q6WQI6	OTTHUMG00000165939		11.37:g.124793237T>C			Somatic	24	0	0		WXS	Illumina HiSeq	Phase_I	31	0.10	3	NM_152722	0		0		Missense_Mutation	SNP	ENST00000408930.5	37	CCDS41729.1	.	.	.	.	.	.	.	.	.	.	T	15.48	2.846687	0.51164	.	.	ENSG00000165478	ENST00000298251;ENST00000374961	T	0.53206	0.63	5.47	5.47	0.80525	.	0.551722	0.19900	N	0.103530	T	0.31199	0.0789	N	0.08118	0	0.36782	D	0.884396	B;B	0.13145	0.007;0.001	B;B	0.04013	0.001;0.001	T	0.25710	-1.0124	10	0.52906	T	0.07	-15.7932	15.5341	0.75990	0.0:0.0:0.0:1.0	.	268;268	Q14CZ8-2;Q14CZ8	.;HECAM_HUMAN	G	268	ENSP00000298251:R268G	ENSP00000298251:R268G	R	-	1	2	HEPACAM	124298447	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	3.790000	0.55461	2.073000	0.62155	0.523000	0.50628	AGG			0.488	HEPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000387129.1		NM_001037558	
SLC2A14	144195	broad.mit.edu	37	12	7982479	7982479	+	Silent	SNP	G	G	A			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr12:7982479G>A	ENST00000543909.1	-	10	1224	c.465C>T	c.(463-465)tgC>tgT	p.C155C	SLC2A14_ENST00000539924.1_Silent_p.C170C|SLC2A14_ENST00000431042.2_Silent_p.C132C|SLC2A14_ENST00000535295.1_Silent_p.C46C|SLC2A14_ENST00000542546.1_Silent_p.C46C|SLC2A14_ENST00000396589.2_Silent_p.C155C|SLC2A14_ENST00000340749.5_Silent_p.C132C|SLC2A14_ENST00000542505.1_Intron			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	155					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		TGCAGAGTCCGCAGAAGAGGC	0.532																																					p.C155C													.	SLC2A14	78		0			c.C465T												86.0	79.0	81.0					12																	7982479		2203	4300	6503	SO:0001819	synonymous_variant	144195	exon6			GAGTCCGCAGAAG	AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"""Solute carriers"""	18301	protein-coding gene	gene with protein product		611039	"""solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"""	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.465C>T	12.37:g.7982479G>A			Somatic	270	0	0		WXS	Illumina HiSeq	Phase_I	793	0.01	6	NM_153449	0		0	B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Silent	SNP	ENST00000543909.1	37	CCDS8585.1																																																																																					0.532	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000399836.2		NM_153449	
HECTD4	283450	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	112622476	112622476	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr12:112622476T>C	ENST00000430131.2	-	60	10173	c.9028A>G	c.(9028-9030)Atc>Gtc	p.I3010V	HECTD4_ENST00000377560.5_Missense_Mutation_p.I3260V|HECTD4_ENST00000550722.1_Missense_Mutation_p.I3286V			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3010					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GGGATGTAGATCTCGTCTTTG	0.632																																					p.I3298V													.	.			0			c.A9892G												107.0	130.0	122.0					12																	112622476		2122	4237	6359	SO:0001583	missense	283450	exon61			TGTAGATCTCGTC	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.9028A>G	12.37:g.112622476T>C	ENSP00000404379:p.Ile3010Val		Somatic	76	0	0		WXS	Illumina HiSeq	.	81	0.20	16	NM_001109662	20	0.30	6	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37		.	.	.	.	.	.	.	.	.	.	T	10.42	1.346533	0.24426	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.52295	0.68;0.68;0.67	5.52	5.52	0.82312	.	.	.	.	.	T	0.43590	0.1254	N	0.17082	0.46	0.49213	D	0.999769	P	0.35745	0.518	P	0.44647	0.456	T	0.50625	-0.8806	9	0.87932	D	0	.	15.641	0.77001	0.0:0.0:0.0:1.0	.	3010	Q9Y4D8	K0614_HUMAN	V	3260;3010;3286	ENSP00000366783:I3260V;ENSP00000404379:I3010V;ENSP00000449784:I3286V	ENSP00000366783:I3260V	I	-	1	0	C12orf51	111106859	1.000000	0.71417	1.000000	0.80357	0.062000	0.15995	4.410000	0.59774	2.101000	0.63845	0.482000	0.46254	ATC			0.632	HECTD4-202	KNOWN	basic	protein_coding	protein_coding				NM_173813	
VPS37B	79720	broad.mit.edu;mdanderson.org	37	12	123351821	123351821	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr12:123351821G>T	ENST00000267202.2	-	4	1081	c.700C>A	c.(700-702)Ccg>Acg	p.P234T	RP11-463O12.3_ENST00000537827.2_lincRNA	NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)	234	Pro-rich.				endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		CCTGGGTACGGCACGGCCTGT	0.682																																					p.P234T													.	VPS37B	26		0			c.C700A												14.0	15.0	15.0					12																	123351821		2190	4271	6461	SO:0001583	missense	79720	exon4			GGTACGGCACGGC	AK022812	CCDS9239.1	12q24.31	2008-02-05	2006-04-04		ENSG00000139722	ENSG00000139722			25754	protein-coding gene	gene with protein product		610037	"""vacuolar protein sorting 37B (yeast)"""			15218037	Standard	NM_024667		Approved	FLJ12750	uc001udl.3	Q9H9H4	OTTHUMG00000168767	ENST00000267202.2:c.700C>A	12.37:g.123351821G>T	ENSP00000267202:p.Pro234Thr		Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	67	0.06	4	NM_024667	16	0.00	0		Missense_Mutation	SNP	ENST00000267202.2	37	CCDS9239.1	.	.	.	.	.	.	.	.	.	.	G	4.002	-0.002381	0.07819	.	.	ENSG00000139722	ENST00000267202;ENST00000535765	T;T	0.61392	0.11;0.14	5.16	4.24	0.50183	.	0.574956	0.19486	N	0.113112	T	0.53174	0.1780	M	0.62723	1.935	0.09310	N	1	B	0.28713	0.22	B	0.28139	0.086	T	0.52041	-0.8628	10	0.59425	D	0.04	-11.8259	9.3513	0.38140	0.0863:0.1525:0.7612:0.0	.	234	Q9H9H4	VP37B_HUMAN	T	234;232	ENSP00000267202:P234T;ENSP00000446075:P232T	ENSP00000267202:P234T	P	-	1	0	VPS37B	121917774	0.987000	0.35691	0.001000	0.08648	0.013000	0.08279	3.497000	0.53295	1.092000	0.41356	0.655000	0.94253	CCG			0.682	VPS37B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000400946.1		NM_024667	
TRIM13	10206	hgsc.bcm.edu	37	13	50588549	50588549	+	3'UTR	SNP	A	A	G			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr13:50588549A>G	ENST00000378182.3	+	0	3211				KCNRG_ENST00000360473.4_5'Flank|KCNRG_ENST00000312942.1_5'Flank|TRIM13_ENST00000478111.1_Intron	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13						anatomical structure morphogenesis (GO:0009653)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell death (GO:0010942)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macroautophagy (GO:0016239)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|response to gamma radiation (GO:0010332)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		atatatgtatatataGAACAC	0.279																																					.													.	.			0			.																																									SO:0001624	3_prime_UTR_variant	10206	.			ATGTATATATAGA	AF220127	CCDS9423.1, CCDS41888.1	13q14	2013-01-09	2011-01-25	2006-09-26	ENSG00000204977	ENSG00000204977		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9976	protein-coding gene	gene with protein product		605661	"""ret finger protein 2"", ""tripartite motif-containing 13"""	RFP2		9599022	Standard	NM_213590		Approved	Leu5, RNF77, DLEU5	uc001vdp.1	O60858	OTTHUMG00000016926	ENST00000378182.3:c.*1249A>G	13.37:g.50588549A>G			Somatic	61	0	0		WXS	Illumina HiSeq	.	59	0.10	6	.	2	0.00	0	B2RB49|Q5UBW0|Q5W0U8|Q5W0U9|Q9BQ47|Q9C021	RNA	SNP	ENST00000378182.3	37	CCDS9423.1																																																																																					0.279	TRIM13-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000354875.1		NM_001007278	
ARHGAP11A	9824	broad.mit.edu	37	15	32915726	32915726	+	Missense_Mutation	SNP	C	C	A			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr15:32915726C>A	ENST00000361627.3	+	3	956	c.234C>A	c.(232-234)gaC>gaA	p.D78E	ARHGAP11A_ENST00000543522.1_5'UTR|ARHGAP11A_ENST00000567348.1_Missense_Mutation_p.D78E|ARHGAP11A_ENST00000563864.1_Missense_Mutation_p.D78E|ARHGAP11A_ENST00000565905.1_5'UTR	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	78	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.D78E(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		CTTTAGAAGACCATATTCATA	0.373																																					p.D78E	Colon(45;757 1134 30003 36652)												ARHGAP11A,NS,carcinoma,0,2	ARHGAP11A	84	2	2	Substitution - Missense(2)	lung(1)|endometrium(1)	c.C234A												148.0	143.0	144.0					15																	32915726		2201	4300	6501	SO:0001583	missense	9824	exon3			AGAAGACCATATT	D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"""Rho GTPase activating proteins"""	15783	protein-coding gene	gene with protein product	"""GAP (1-12)"""	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.234C>A	15.37:g.32915726C>A	ENSP00000355090:p.Asp78Glu		Somatic	240	0.0041666667	1		WXS	Illumina HiSeq	Phase_I	266	0.02	4	NM_199357	13	0.00	0	B4DZN9|Q6PI96|Q9Y3S6	Missense_Mutation	SNP	ENST00000361627.3	37	CCDS10028.1	.	.	.	.	.	.	.	.	.	.	.	1.662	-0.511152	0.04231	.	.	ENSG00000198826	ENST00000361627	T	0.17213	2.29	4.76	-1.96	0.07525	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.411168	0.20407	N	0.092924	T	0.04092	0.0114	N	0.02379	-0.575	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47699	-0.9097	10	0.02654	T	1	.	6.1194	0.20144	0.3949:0.2143:0.3908:0.0	.	78	Q6P4F7	RHGBA_HUMAN	E	78	ENSP00000355090:D78E	ENSP00000355090:D78E	D	+	3	2	ARHGAP11A	30703018	0.766000	0.28496	0.835000	0.33067	0.834000	0.47266	-0.139000	0.10358	-1.045000	0.03250	-1.217000	0.01609	GAC			0.373	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251417.1		NM_014783	
LMAN1L	79748	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	75111137	75111137	+	Silent	SNP	C	C	T			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr15:75111137C>T	ENST00000309664.5	+	5	715	c.576C>T	c.(574-576)acC>acT	p.T192T	RP11-414J4.2_ENST00000564823.1_RNA|LMAN1L_ENST00000379709.3_Silent_p.T192T	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	192	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CACGGATCACCTACTGGGGGC	0.607																																					p.T192T													.	.			0			c.C576T												54.0	42.0	46.0					15																	75111137		2197	4296	6493	SO:0001819	synonymous_variant	79748	exon5			GATCACCTACTGG	AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.576C>T	15.37:g.75111137C>T			Somatic	75	0	0		WXS	Illumina HiSeq	.	109	0.20	22	NM_021819	1	0.00	0	Q6UWN2	Silent	SNP	ENST00000309664.5	37	CCDS10270.1																																																																																					0.607	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000286397.4			
CASKIN1	57524	mdanderson.org	37	16	2230285	2230285	+	Silent	SNP	G	G	T			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr16:2230285G>T	ENST00000343516.6	-	18	3176	c.3084C>A	c.(3082-3084)ccC>ccA	p.P1028P	CASKIN1_ENST00000564289.1_5'Flank	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	1028	Pro-rich.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GGCGGGGAGTGGGGTGGCCCT	0.716																																					p.P1028P													.	.			0			c.C3084A												3.0	4.0	4.0					16																	2230285		1486	3394	4880	SO:0001819	synonymous_variant	57524	exon18			GGGAGTGGGGTGG	AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.3084C>A	16.37:g.2230285G>T			Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	46	0.07	3	NM_020764	2	0.00	0	Q9P2P0	Silent	SNP	ENST00000343516.6	37	CCDS42103.1																																																																																					0.716	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000435055.1		NM_020764	
RRN3	54700	broad.mit.edu	37	16	15188060	15188060	+	Missense_Mutation	SNP	G	G	A	rs201504364		TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr16:15188060G>A	ENST00000198767.6	-	1	114	c.31C>T	c.(31-33)Ccg>Tcg	p.P11S	RRN3_ENST00000564131.1_Missense_Mutation_p.P11S|RRN3_ENST00000327307.7_5'Flank|RRN3_ENST00000429751.2_Missense_Mutation_p.P11S|RP11-72I8.1_ENST00000569858.1_RNA|PDXDC1_ENST00000535621.2_Intron|RRN3_ENST00000563559.1_Missense_Mutation_p.P11S	NM_018427.3	NP_060897.3	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)	11					cell proliferation (GO:0008283)|cytoplasm organization (GO:0007028)|gene expression (GO:0010467)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)|nucleolus organization (GO:0007000)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, initiation (GO:2000142)|ribosome biogenesis (GO:0042254)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.P11S(3)		NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						GCATCTCCCGGCAAACGCGTG	0.637																																					p.P11S													RRN3,NS,carcinoma,0,3	RRN3	36	3	3	Substitution - Missense(3)	lung(1)|prostate(1)|central_nervous_system(1)	c.C31T												15.0	14.0	14.0					16																	15188060		2193	4294	6487	SO:0001583	missense	54700	exon1			CTCCCGGCAAACG	AF227156	CCDS10559.1, CCDS73833.1	16p13.11	2009-10-26	2006-04-04		ENSG00000085721	ENSG00000085721			30346	protein-coding gene	gene with protein product		605121	"""RRN3 RNA polymerase I transcription factor homolog (yeast)"""			10758157, 11250903	Standard	XM_005255375		Approved	DKFZp566E104	uc002dde.3	Q9NYV6	OTTHUMG00000129847	ENST00000198767.6:c.31C>T	16.37:g.15188060G>A	ENSP00000198767:p.Pro11Ser		Somatic	59	0.0169491525	1		WXS	Illumina HiSeq	Phase_I	96	0.05	5	NM_018427	34	0.00	0	A2RTY9|B4E0J7|B4E3T2|Q3MHU9|Q6IPL4|Q9H4F0	Missense_Mutation	SNP	ENST00000198767.6	37	CCDS10559.1	.	.	.	.	.	.	.	.	.	.	.	10.34	1.323150	0.24080	.	.	ENSG00000085721	ENST00000198767;ENST00000429751	T;T	0.46819	1.02;0.86	3.13	0.948	0.19561	.	.	.	.	.	T	0.19485	0.0468	N	0.08118	0	0.09310	N	0.999994	B;B;B	0.10296	0.0;0.003;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.26538	-1.0100	9	0.06494	T	0.89	.	3.8332	0.08883	0.1556:0.2546:0.5898:0.0	.	11;11;11	F5H148;Q3MHU9;Q9NYV6	.;.;RRN3_HUMAN	S	11	ENSP00000198767:P11S;ENSP00000402027:P11S	ENSP00000198767:P11S	P	-	1	0	RRN3	15095561	0.001000	0.12720	0.003000	0.11579	0.038000	0.13279	0.733000	0.26087	0.121000	0.18284	0.305000	0.20034	CCG			0.637	RRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252087.2		NM_018427	
ITPRIPL2	162073	mdanderson.org	37	16	19126187	19126187	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr16:19126187G>T	ENST00000381440.3	+	1	934	c.404G>T	c.(403-405)cGc>cTc	p.R135L	CTD-2349B8.1_ENST00000564808.2_3'UTR	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2	135						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CGGGCTGGCCGCGCCCGGGGG	0.667																																					p.R135L													.	.			0			c.G404T												7.0	7.0	7.0					16																	19126187		2144	4170	6314	SO:0001583	missense	162073	exon1			CTGGCCGCGCCCG		CCDS32395.1	16p12.3	2011-04-28	2011-04-28		ENSG00000205730	ENSG00000205730			27257	protein-coding gene	gene with protein product			"""inositol 1,4,5-triphosphate receptor interacting protein-like 2"""				Standard	NM_001034841		Approved	FLJ22994, MGC126798, MGC126800, LOC162073	uc002dfu.4	Q3MIP1		ENST00000381440.3:c.404G>T	16.37:g.19126187G>T	ENSP00000370849:p.Arg135Leu		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	35	0.09	3	NM_001034841	30	0.00	0		Missense_Mutation	SNP	ENST00000381440.3	37	CCDS32395.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.473252	0.63737	.	.	ENSG00000205730	ENST00000381440	T	0.23950	1.88	4.03	4.03	0.46877	.	0.244651	0.24978	U	0.034087	T	0.21022	0.0506	L	0.27053	0.805	0.37888	D	0.930628	D	0.57257	0.979	P	0.48654	0.585	T	0.06607	-1.0817	10	0.87932	D	0	-11.4871	5.9827	0.19415	0.2646:0.0:0.7354:0.0	.	135	Q3MIP1	IPIL2_HUMAN	L	135	ENSP00000370849:R135L	ENSP00000370849:R135L	R	+	2	0	ITPRIPL2	19033688	1.000000	0.71417	0.980000	0.43619	0.990000	0.78478	4.082000	0.57635	1.962000	0.57031	0.563000	0.77884	CGC			0.667	ITPRIPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000435827.3		NM_001034841	
RRAD	6236	broad.mit.edu	37	16	66956073	66956073	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr16:66956073G>T	ENST00000299759.6	-	5	1083	c.833C>A	c.(832-834)gCg>gAg	p.A278E	RRAD_ENST00000420652.1_Missense_Mutation_p.A278E			P55042	RAD_HUMAN	Ras-related associated with diabetes	278	Calmodulin-binding.				small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.A278E(6)		endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		GAAGCGCTTCGCCTTTTTGCC	0.612																																					p.A278E													RRAD,NS,carcinoma,0,6	RRAD	31	6	6	Substitution - Missense(6)	kidney(4)|prostate(1)|endometrium(1)	c.C833A												94.0	75.0	81.0					16																	66956073		2200	4300	6500	SO:0001583	missense	6236	exon5			CGCTTCGCCTTTT	L24564	CCDS10824.1	16q22	2014-05-09			ENSG00000166592	ENSG00000166592			10446	protein-coding gene	gene with protein product		179503				7859947	Standard	NM_004165		Approved	REM3, RAD	uc002eqo.2	P55042	OTTHUMG00000137511	ENST00000299759.6:c.833C>A	16.37:g.66956073G>T	ENSP00000299759:p.Ala278Glu		Somatic	110	0.0181818182	2		WXS	Illumina HiSeq	Phase_I	197	0.06	11	NM_001128850	60	0.00	0	Q96F39	Missense_Mutation	SNP	ENST00000299759.6	37	CCDS10824.1	.	.	.	.	.	.	.	.	.	.	G	36	5.625454	0.96671	.	.	ENSG00000166592	ENST00000420652;ENST00000299759	T;T	0.68181	-0.31;-0.31	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.83524	0.5273	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84232	0.0467	10	0.87932	D	0	.	20.328	0.98708	0.0:0.0:1.0:0.0	.	278	P55042	RAD_HUMAN	E	278	ENSP00000388744:A278E;ENSP00000299759:A278E	ENSP00000299759:A278E	A	-	2	0	RRAD	65513574	1.000000	0.71417	0.969000	0.41365	0.983000	0.72400	9.471000	0.97696	2.802000	0.96397	0.561000	0.74099	GCG			0.612	RRAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268830.1		NM_004165	
SPIRE2	84501	mdanderson.org	37	16	89925692	89925692	+	Silent	SNP	A	A	G			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr16:89925692A>G	ENST00000378247.3	+	9	1435	c.1392A>G	c.(1390-1392)ccA>ccG	p.P464P	SPIRE2_ENST00000393062.2_Silent_p.P464P	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	464					actin cytoskeleton organization (GO:0030036)|cleavage furrow formation (GO:0036089)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|intracellular transport (GO:0046907)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		CCCACCCCCCAGGAGGGACGG	0.692																																					p.P464P													.	.			0			c.A1392G												32.0	32.0	32.0					16																	89925692		2198	4298	6496	SO:0001819	synonymous_variant	84501	exon9			CCCCCCAGGAGGG	AL834408	CCDS32516.1	16q24	2013-08-27	2013-08-27			ENSG00000204991			30623	protein-coding gene	gene with protein product		609217	"""spire homolog 2 (Drosophila)"", ""spire family actin nucleation factor 2"""			11347906	Standard	NM_032451		Approved	spir-2, KIAA1832	uc002foz.1	Q8WWL2		ENST00000378247.3:c.1392A>G	16.37:g.89925692A>G			Somatic	25	0	0		WXS	Illumina HiSeq	Phase_I	51	0.06	3	NM_032451	4	0.00	0	A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	Silent	SNP	ENST00000378247.3	37	CCDS32516.1																																																																																					0.692	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000421843.1		XM_047462	
TRPV3	162514	broad.mit.edu	37	17	3438998	3438998	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr17:3438998G>T	ENST00000576742.1	-	7	974	c.653C>A	c.(652-654)gCg>gAg	p.A218E	TRPV3_ENST00000301365.4_Missense_Mutation_p.A218E|TRPV3_ENST00000572519.1_Missense_Mutation_p.A218E	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	218					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GATGTTCAGCGCCGTCTGCCC	0.736																																					p.A218E													.	TRPV3	85		0			c.C653A												8.0	9.0	9.0					17																	3438998		2163	4231	6394	SO:0001583	missense	162514	exon7			TTCAGCGCCGTCT	AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.653C>A	17.37:g.3438998G>T	ENSP00000461518:p.Ala218Glu		Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	82	0.12	10	NM_001258205	0		0	Q8NDW7|Q8NET9|Q8NFH2	Missense_Mutation	SNP	ENST00000576742.1	37	CCDS11029.1	.	.	.	.	.	.	.	.	.	.	G	36	5.688246	0.96784	.	.	ENSG00000167723	ENST00000381913;ENST00000301365;ENST00000430263	T	0.71341	-0.56	5.03	5.03	0.67393	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000001	D	0.89491	0.6730	H	0.96111	3.77	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.998;0.999;0.997;0.999;1.0;1.0;0.997	D;D;D;D;D;D;P	0.91635	0.979;0.993;0.933;0.993;0.999;0.999;0.89	D	0.92506	0.6012	10	0.87932	D	0	-11.7793	18.2979	0.90153	0.0:0.0:1.0:0.0	.	202;202;218;202;218;218;218	E7EV24;B7ZKP9;Q2M3L1;B7ZKP6;Q8NET8-3;Q8NET8;Q8NET8-2	.;.;.;.;.;TRPV3_HUMAN;.	E	218;218;202	ENSP00000301365:A218E	ENSP00000301365:A218E	A	-	2	0	TRPV3	3385748	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.422000	0.97458	2.741000	0.93983	0.555000	0.69702	GCG			0.736	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000207379.2		NM_145068	
GUCY2D	3000	mdanderson.org	37	17	7918715	7918715	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr17:7918715G>A	ENST00000254854.4	+	15	2989	c.2839G>A	c.(2839-2841)Gca>Aca	p.A947T		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	947	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			skin(1)	1		Prostate(122;0.157)				GCGACACGCGGCAGAGATCGC	0.602																																					p.A947T													.	.			0			c.G2839A												52.0	46.0	48.0					17																	7918715		2203	4300	6503	SO:0001583	missense	3000	exon15			CACGCGGCAGAGA	L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"""cone rod dystrophy 6"""	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.2839G>A	17.37:g.7918715G>A	ENSP00000254854:p.Ala947Thr		Somatic	30	0	0		WXS	Illumina HiSeq	Phase_I	43	0.07	3	NM_000180	0		0	Q6LEA7	Missense_Mutation	SNP	ENST00000254854.4	37	CCDS11127.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.589629	0.86851	.	.	ENSG00000132518	ENST00000254854	T	0.81415	-1.49	4.92	4.92	0.64577	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.131711	0.34802	N	0.003670	T	0.73999	0.3659	N	0.17872	0.535	0.41734	D	0.989574	P	0.36199	0.543	B	0.42692	0.395	T	0.72459	-0.4287	10	0.27785	T	0.31	.	17.0538	0.86527	0.0:0.0:1.0:0.0	.	947	Q02846	GUC2D_HUMAN	T	947	ENSP00000254854:A947T	ENSP00000254854:A947T	A	+	1	0	GUCY2D	7859440	1.000000	0.71417	0.691000	0.30163	0.932000	0.56968	6.635000	0.74295	2.546000	0.85860	0.467000	0.42956	GCA			0.602	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000226973.2			
ALDH3A1	218	mdanderson.org	37	17	19642952	19642952	+	Missense_Mutation	SNP	G	G	A	rs2228100	byFrequency	TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr17:19642952G>A	ENST00000457500.2	-	7	1314	c.985C>T	c.(985-987)Ccg>Tcg	p.P329S	ALDH3A1_ENST00000225740.6_Missense_Mutation_p.P329S|ALDH3A1_ENST00000395555.3_Intron|ALDH3A1_ENST00000494157.2_Missense_Mutation_p.P256S|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.P329S|RP11-311F12.2_ENST00000580884.1_RNA|ALDH3A1_ENST00000485231.1_5'Flank	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	329			P -> A (in allele ALDH3A1*2; dbSNP:rs2228100). {ECO:0000269|PubMed:9250352}.		aging (GO:0007568)|cellular aldehyde metabolic process (GO:0006081)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|alcohol dehydrogenase (NADP+) activity (GO:0008106)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)		TGCATCACCGGGGACTGGGGG	0.637																																					p.P329S													.	.			0			c.C985T												50.0	45.0	47.0					17																	19642952		2203	4300	6503	SO:0001583	missense	218	exon7			TCACCGGGGACTG	M74542	CCDS11212.1	17p11.2	2010-05-07	2010-05-07		ENSG00000108602	ENSG00000108602	1.2.1.5	"""Aldehyde dehydrogenases"""	405	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase, dimeric NADP-preferring"""	100660		ALDH3		7774944, 1737758	Standard	NM_000691		Approved		uc010cqu.3	P30838	OTTHUMG00000059469	ENST00000457500.2:c.985C>T	17.37:g.19642952G>A	ENSP00000411821:p.Pro329Ser		Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	80	0.04	3	NM_001135168	5	0.00	0	A8K828|Q9BT37	Missense_Mutation	SNP	ENST00000457500.2	37	CCDS11212.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.845351	0.32606	.	.	ENSG00000108602	ENST00000225740;ENST00000379258;ENST00000444455;ENST00000457500;ENST00000457844;ENST00000439102	T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95	4.82	2.57	0.30868	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.459276	0.24947	N	0.034329	T	0.63200	0.2491	L	0.28740	0.885	0.30547	P	0.765855	B;P;B	0.40211	0.014;0.707;0.014	B;B;B	0.41036	0.028;0.346;0.028	T	0.74858	-0.3521	9	0.54805	T	0.06	-36.1848	11.1793	0.48618	0.0:0.0:0.6212:0.3788	.	329;446;329	A8K828;Q8N9T9;P30838	.;.;AL3A1_HUMAN	S	329;387;329;329;256;329	ENSP00000225740:P329S;ENSP00000388469:P329S;ENSP00000411821:P329S;ENSP00000389766:P329S	ENSP00000225740:P329S	P	-	1	0	ALDH3A1	19583544	0.256000	0.24012	0.947000	0.38551	0.652000	0.38707	0.843000	0.27640	2.232000	0.73038	0.655000	0.94253	CCG			0.637	ALDH3A1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000132265.4		NM_000691	
KRTAP2-4	85294	hgsc.bcm.edu	37	17	39221816	39221816	+	Nonsense_Mutation	SNP	C	C	T	rs200049107		TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr17:39221816C>T	ENST00000394015.2	-	1	315	c.282G>A	c.(280-282)tgG>tgA	p.W94*		NM_033184.3	NP_149440.1	Q9BYR9	KRA24_HUMAN	keratin associated protein 2-4	94	10 X 5 AA repeats of C-C-[CDPQRW]- [ADPRS]-[CIPSTV].					keratin filament (GO:0045095)		p.W94*(1)		skin(1)	1		Breast(137;0.000496)|Myeloproliferative disorder(1115;0.204)	STAD - Stomach adenocarcinoma(17;0.000371)			AGGTGGTGGCCCAGCAGCAGG	0.716																																					p.W94X													KRTAP2-4,trunk,malignant_melanoma,0,1	KRTAP2-4	0	1	1	Substitution - Nonsense(1)	skin(1)	c.G282A												9.0	9.0	9.0					17																	39221816		1454	3133	4587	SO:0001587	stop_gained	85294	exon1			GGTGGCCCAGCAG	AJ406930		17q21.2	2012-04-19			ENSG00000213417	ENSG00000213417		"""Keratin associated proteins"""	18891	protein-coding gene	gene with protein product						11279113	Standard	NM_033184		Approved	KAP2.4	uc002hvy.3	Q9BYR9	OTTHUMG00000133594	ENST00000394015.2:c.282G>A	17.37:g.39221816C>T	ENSP00000377583:p.Trp94*		Somatic	9	0.1111111111	1		WXS	Illumina HiSeq	.	17	0.47	8	NM_033184	0		0	Q495J2	Nonsense_Mutation	SNP	ENST00000394015.2	37	CCDS32648.1	.	.	.	.	.	.	.	.	.	.	.	25.2	4.608564	0.87258	.	.	ENSG00000213417	ENST00000394015	.	.	.	5.58	5.58	0.84498	.	0.187904	0.26119	U	0.026230	.	.	.	.	.	.	0.58432	D	0.999994	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	15.0735	0.72059	0.0:1.0:0.0:0.0	.	.	.	.	X	94	.	ENSP00000377583:W94X	W	-	3	0	KRTAP2-4	36475342	0.998000	0.40836	1.000000	0.80357	0.992000	0.81027	0.989000	0.29629	2.624000	0.88883	0.655000	0.94253	TGG			0.716	KRTAP2-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257698.1		NM_033184	
RAB12	201475	mdanderson.org	37	18	8609872	8609872	+	Silent	SNP	C	C	A	rs534005643		TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr18:8609872C>A	ENST00000329286.6	+	1	430	c.147C>A	c.(145-147)ggC>ggA	p.G49G		NM_001025300.2	NP_001020471.2	Q6IQ22	RAB12_HUMAN	RAB12, member RAS oncogene family	49					autophagy (GO:0006914)|cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|recycling endosome membrane (GO:0055038)|secretory granule (GO:0030141)	GDP binding (GO:0019003)|GTP binding (GO:0005525)	p.G49G(1)		breast(1)|lung(4)|prostate(1)|urinary_tract(1)	7						TCATTATCGGCTCCCGCGGCG	0.711																																					p.G49G													RAB12,NS,carcinoma,0,1	RAB12	0	1	1	Substitution - coding silent(1)	prostate(1)	c.C147A												12.0	17.0	15.0					18																	8609872		1918	4118	6036	SO:0001819	synonymous_variant	201475	exon1			TATCGGCTCCCGC		CCDS42410.1	18p11.22	2006-12-18				ENSG00000206418		"""RAB, member RAS oncogene"""	31332	protein-coding gene	gene with protein product							Standard	NM_001025300		Approved		uc002knp.3	Q6IQ22		ENST00000329286.6:c.147C>A	18.37:g.8609872C>A			Somatic	102	0.0392156863	4		WXS	Illumina HiSeq	Phase_I	108	0.11	12	NM_001025300	32	0.06	2	A6NEF5|Q4KMQ3	Silent	SNP	ENST00000329286.6	37	CCDS42410.1																																																																																					0.711	RAB12-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000444080.1		XM_113967	
MBD1	4152	mdanderson.org	37	18	47800013	47800013	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr18:47800013A>G	ENST00000591416.1	-	12	1798	c.1367T>C	c.(1366-1368)cTt>cCt	p.L456P	MBD1_ENST00000457839.2_Missense_Mutation_p.L481P|MBD1_ENST00000398493.1_Missense_Mutation_p.L400P|MBD1_ENST00000398488.1_Missense_Mutation_p.L400P|MBD1_ENST00000269471.5_Missense_Mutation_p.L433P|MBD1_ENST00000585595.1_Missense_Mutation_p.L481P|MBD1_ENST00000353909.3_Missense_Mutation_p.L407P|MBD1_ENST00000398495.2_Missense_Mutation_p.L425P|MBD1_ENST00000424334.2_Missense_Mutation_p.L507P|MBD1_ENST00000436910.1_Missense_Mutation_p.L433P|MBD1_ENST00000269468.5_Missense_Mutation_p.L456P|MBD1_ENST00000349085.2_Missense_Mutation_p.L400P|MBD1_ENST00000339998.6_Missense_Mutation_p.L456P|MBD1_ENST00000588937.1_Missense_Mutation_p.L433P|MBD1_ENST00000590208.1_Missense_Mutation_p.L456P|MBD1_ENST00000587605.1_Missense_Mutation_p.L400P|MBD1_ENST00000382948.5_Missense_Mutation_p.L456P|MBD1_ENST00000585672.1_Missense_Mutation_p.L406P|MBD1_ENST00000591535.1_Missense_Mutation_p.L433P|MBD1_ENST00000347968.3_Missense_Mutation_p.L400P			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	456					negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.L456R(3)|p.L481R(1)|p.L433R(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						TAAAAACACAAGGTCAGTGCC	0.627																																					p.L481P													MBD1_ENST00000457839,NS,carcinoma,0,5	MBD1_ENST00000457839	0	5	5	Substitution - Missense(5)	lung(4)|large_intestine(1)	c.T1442C												60.0	55.0	57.0					18																	47800013		2203	4300	6503	SO:0001583	missense	4152	exon13			AACACAAGGTCAG	Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.1367T>C	18.37:g.47800013A>G	ENSP00000467017:p.Leu456Pro		Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	38	0.08	3	NM_001204137	41	0.00	0	A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Missense_Mutation	SNP	ENST00000591416.1	37	CCDS11943.1	.	.	.	.	.	.	.	.	.	.	A	16.44	3.124127	0.56613	.	.	ENSG00000141644	ENST00000382948;ENST00000353909;ENST00000349085;ENST00000269468;ENST00000347968;ENST00000436910;ENST00000269471;ENST00000424334;ENST00000339998;ENST00000398495;ENST00000457839;ENST00000398493;ENST00000398488	D;D;D;D;D;D;D;D;D;D;D;D	0.97404	-4.11;-4.12;-4.37;-4.11;-4.08;-4.05;-4.06;-4.11;-4.07;-4.09;-4.08;-4.37	4.44	4.44	0.53790	.	0.373697	0.23237	N	0.050394	D	0.96399	0.8825	L	0.27053	0.805	0.48135	D	0.999597	D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.997;0.999;1.0;0.998;0.999;0.997;0.998;0.992;0.998	D;D;D;D;D;D;D;D;D;D;D;D	0.83275	0.962;0.996;0.974;0.959;0.983;0.983;0.961;0.996;0.959;0.971;0.935;0.971	D	0.95246	0.8355	10	0.42905	T	0.14	-10.2249	10.3809	0.44110	1.0:0.0:0.0:0.0	.	400;507;433;456;456;433;407;400;456;400;481;400	B4DUR3;B4DI41;Q9UIS9-8;A8K654;Q9UIS9-6;Q9UIS9-2;Q9UIS9-5;Q9UIS9-4;Q9UIS9;Q9UIS9-7;B4DXJ5;Q9UIS9-3	.;.;.;.;.;.;.;.;MBD1_HUMAN;.;.;.	P	456;407;400;456;400;433;433;507;456;456;481;400;400	ENSP00000372407:L456P;ENSP00000269469:L407P;ENSP00000342531:L400P;ENSP00000269468:L456P;ENSP00000285102:L400P;ENSP00000409561:L433P;ENSP00000269471:L433P;ENSP00000408846:L507P;ENSP00000339546:L456P;ENSP00000405268:L481P;ENSP00000381506:L400P;ENSP00000381502:L400P	ENSP00000269468:L456P	L	-	2	0	MBD1	46054011	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.758000	0.55220	2.223000	0.72356	0.454000	0.30748	CTT			0.627	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000255926.3		NM_015846	
CXXC1	30827	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	47810855	47810855	+	Silent	SNP	G	G	T			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr18:47810855G>T	ENST00000285106.6	-	9	1812	c.1098C>A	c.(1096-1098)gcC>gcA	p.A366A	MBD1_ENST00000398493.1_5'Flank|MBD1_ENST00000269471.5_5'Flank|CXXC1_ENST00000589940.1_Silent_p.A366A|CXXC1_ENST00000412036.2_Silent_p.A370A|MBD1_ENST00000591416.1_5'Flank|MBD1_ENST00000436910.1_5'Flank|CXXC1_ENST00000587396.1_5'Flank|MBD1_ENST00000269468.5_5'Flank|MBD1_ENST00000349085.2_5'Flank|MBD1_ENST00000590208.1_5'Flank|MBD1_ENST00000587605.1_5'Flank|MBD1_ENST00000382948.5_5'Flank|MBD1_ENST00000347968.3_5'Flank	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	366					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CAGGGTCCTTGGCATCAGCCC	0.592																																					p.A370A													.	.			0			c.C1110A												151.0	160.0	157.0					18																	47810855		2203	4300	6503	SO:0001819	synonymous_variant	30827	exon9			GTCCTTGGCATCA	BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"""Zinc fingers, PHD-type"""	24343	protein-coding gene	gene with protein product	"""CpG binding protein"", ""DNA-binding protein with PHD finger and CXXC domain"", ""zinc finger, CpG binding-type containing 1"""	609150	"""CXXC finger 1 (PHD domain)"""			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.1098C>A	18.37:g.47810855G>T			Somatic	41	0	0		WXS	Illumina HiSeq	.	59	0.08	5	NM_001101654	45	0.00	0	B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Silent	SNP	ENST00000285106.6	37	CCDS11945.1																																																																																					0.592	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000255927.2		NM_014593	
AZU1	566	mdanderson.org	37	19	830737	830737	+	Missense_Mutation	SNP	C	C	A			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr19:830737C>A	ENST00000233997.2	+	4	411	c.390C>A	c.(388-390)agC>agA	p.S130R		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1	130	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.			S -> N (in Ref. 7; AA sequence). {ECO:0000305}.	cellular extravasation (GO:0045123)|defense response to Gram-negative bacterium (GO:0050829)|glial cell migration (GO:0008347)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|macrophage chemotaxis (GO:0048246)|microglial cell activation (GO:0001774)|monocyte activation (GO:0042117)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell adhesion (GO:0045785)|positive regulation of fractalkine biosynthetic process (GO:0050754)|positive regulation of interleukin-1 beta biosynthetic process (GO:0050725)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of phagocytosis (GO:0050766)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of vascular permeability (GO:0043114)	azurophil granule (GO:0042582)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)|toxic substance binding (GO:0015643)			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCACCAGCAGCGTGACGATAC	0.682																																					p.S130R													.	.			0			c.C390A												34.0	31.0	32.0					19																	830737		2203	4300	6503	SO:0001583	missense	566	exon4			CAGCAGCGTGACG	X58794	CCDS12044.1	19p13.3	2012-03-30	2008-08-01		ENSG00000172232	ENSG00000172232			913	protein-coding gene	gene with protein product	"""cationic antimicrobial protein 37"", ""heparin-binding protein"", ""neutrophil azurocidin"""	162815				1919011	Standard	NM_001700		Approved	AZU, CAP37, AZAMP, HBP, NAZC, HUMAZUR	uc002lpz.1	P20160		ENST00000233997.2:c.390C>A	19.37:g.830737C>A	ENSP00000233997:p.Ser130Arg		Somatic	23	0	0		WXS	Illumina HiSeq	Phase_I	12	0.17	2	NM_001700	1	0.00	0	P80014|Q52LG4|Q9UCM1|Q9UCT5	Missense_Mutation	SNP	ENST00000233997.2	37	CCDS12044.1	.	.	.	.	.	.	.	.	.	.	C	0.311	-0.968077	0.02232	.	.	ENSG00000172232	ENST00000334630;ENST00000233997	D	0.92699	-3.09	1.45	-2.89	0.05665	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.78836	0.4346	N	0.16307	0.4	0.09310	N	1	B	0.31413	0.322	B	0.31751	0.135	T	0.66870	-0.5814	9	0.12766	T	0.61	.	0.7922	0.01059	0.1717:0.2208:0.1709:0.4366	.	130	P20160	CAP7_HUMAN	R	144;130	ENSP00000233997:S130R	ENSP00000233997:S130R	S	+	3	2	AZU1	781737	0.000000	0.05858	0.009000	0.14445	0.027000	0.11550	-3.672000	0.00397	-2.287000	0.00669	-1.036000	0.02392	AGC			0.682	AZU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000457472.2		NM_001700	
APBA3	9546	broad.mit.edu	37	19	3754245	3754245	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr19:3754245G>T	ENST00000316757.3	-	4	910	c.710C>A	c.(709-711)cCg>cAg	p.P237Q	AC005954.4_ENST00000586503.1_RNA|AC005954.3_ENST00000591962.1_RNA	NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 3	237	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				in utero embryonic development (GO:0001701)|negative regulation of catalytic activity (GO:0043086)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	perinuclear region of cytoplasm (GO:0048471)	beta-amyloid binding (GO:0001540)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGGTGGGCGGGTTCCGTTC	0.711																																					p.P237Q													.	APBA3	28		0			c.C710A												11.0	12.0	12.0					19																	3754245		2127	4185	6312	SO:0001583	missense	9546	exon4			GTGGGCGGGTTCC	AB021638	CCDS12110.1	19p13.3	2008-07-18	2008-07-18			ENSG00000011132			580	protein-coding gene	gene with protein product	"""X11-like 2"""	604262				10049767	Standard	NM_004886		Approved	X11L2, mint3	uc002lyp.1	O96018		ENST00000316757.3:c.710C>A	19.37:g.3754245G>T	ENSP00000315136:p.Pro237Gln		Somatic	192	0.0052083333	1		WXS	Illumina HiSeq	Phase_I	174	0.02	3	NM_004886	26	0.00	0	O60483|Q9UPZ2	Missense_Mutation	SNP	ENST00000316757.3	37	CCDS12110.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.564380	0.65651	.	.	ENSG00000011132	ENST00000316757	T	0.23348	1.91	4.63	4.63	0.57726	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.57257	0.2041	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67205	-0.5729	10	0.87932	D	0	.	16.4405	0.83900	0.0:0.0:1.0:0.0	.	237	O96018	APBA3_HUMAN	Q	237	ENSP00000315136:P237Q	ENSP00000315136:P237Q	P	-	2	0	APBA3	3705245	1.000000	0.71417	0.952000	0.39060	0.168000	0.22595	9.662000	0.98603	2.110000	0.64415	0.462000	0.41574	CCG			0.711	APBA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000453634.2			
CACNA1A	773	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	13423558	13423558	+	Silent	SNP	G	G	T	rs372090886		TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr19:13423558G>T	ENST00000360228.5	-	12	1592	c.1593C>A	c.(1591-1593)tcC>tcA	p.S531S	CACNA1A_ENST00000573710.2_Silent_p.S532S	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	532					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	TAAACATTTCGGACATAAAGA	0.458																																					p.S532S													.	.			0			c.C1596A												74.0	71.0	72.0					19																	13423558		1852	4101	5953	SO:0001819	synonymous_variant	773	exon12			CATTTCGGACATA	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.1593C>A	19.37:g.13423558G>T			Somatic	58	0	0		WXS	Illumina HiSeq	.	30	0.37	11	NM_001127221	1	1.00	1	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	37	CCDS45998.1																																																																																					0.458	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000104062.2		NM_000068	
ATP13A1	57130	mdanderson.org	37	19	19765412	19765412	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr19:19765412G>T	ENST00000357324.6	-	13	1779	c.1753C>A	c.(1753-1755)Ctc>Atc	p.L585I	ATP13A1_ENST00000496082.1_5'UTR|ATP13A1_ENST00000291503.5_Missense_Mutation_p.L467I	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	585						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TCACCCACGAGGGTGCCGTCG	0.662																																					p.L585I	Esophageal Squamous(142;920 1789 9047 14684 24777)												.	.			0			c.C1753A												85.0	72.0	77.0					19																	19765412		2203	4300	6503	SO:0001583	missense	57130	exon13			CCACGAGGGTGCC	AK056420	CCDS32970.2	19p13.11	2010-04-20	2005-01-12	2005-01-12	ENSG00000105726	ENSG00000105726		"""ATPases / P-type"""	24215	protein-coding gene	gene with protein product	"""cation transporting ATPase"""		"""ATPase type 13A"""	ATP13A		11347906	Standard	NM_020410		Approved	KIAA1825, FLJ31858, CGI-152	uc002nnh.4	Q9HD20	OTTHUMG00000153016	ENST00000357324.6:c.1753C>A	19.37:g.19765412G>T	ENSP00000349877:p.Leu585Ile		Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	48	0.06	3	NM_020410	51	0.00	0	B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Missense_Mutation	SNP	ENST00000357324.6	37	CCDS32970.2	.	.	.	.	.	.	.	.	.	.	G	11.07	1.530814	0.27387	.	.	ENSG00000105726	ENST00000291503;ENST00000357324	T;T	0.69806	-0.43;-0.43	5.19	2.68	0.31781	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	T	0.61813	0.2377	L	0.35723	1.085	0.54753	D	0.999987	P;B	0.36974	0.576;0.045	P;B	0.48571	0.582;0.012	T	0.53322	-0.8455	10	0.15952	T	0.53	-18.0577	10.2817	0.43543	0.1953:0.0:0.8047:0.0	.	585;467	Q9HD20;Q9HD20-2	AT131_HUMAN;.	I	467;585	ENSP00000291503:L467I;ENSP00000349877:L585I	ENSP00000291503:L467I	L	-	1	0	ATP13A1	19626412	0.992000	0.36948	0.984000	0.44739	0.975000	0.68041	2.024000	0.41049	1.196000	0.43129	0.462000	0.41574	CTC			0.662	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000329005.1		NM_020410	
ZNF493	284443	mdanderson.org	37	19	21587955	21587955	+	Intron	SNP	G	G	A			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr19:21587955G>A	ENST00000355504.4	+	1	135				CTD-2561J22.3_ENST00000600810.1_5'Flank|ZNF493_ENST00000392288.2_Missense_Mutation_p.A19T|ZNF493_ENST00000339914.6_Missense_Mutation_p.A19T|ZNF493_ENST00000596302.1_Missense_Mutation_p.A19T|ZNF493_ENST00000594390.1_Missense_Mutation_p.A19T	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493						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)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TAGGGATGTGGCCATAGAATT	0.433																																					p.A19T													.	.			0			c.G55A												82.0	88.0	86.0					19																	21587955		2203	4300	6503	SO:0001627	intron_variant	284443	exon2			GATGTGGCCATAG	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.-132+7886G>A	19.37:g.21587955G>A			Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	60	0.05	3	NM_145326	8	0.00	0	G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	13.27	2.186464	0.38609	.	.	ENSG00000196268	ENST00000392288;ENST00000339914	T;T	0.03065	4.06;4.06	1.14	1.14	0.20703	.	.	.	.	.	T	0.09024	0.0223	M	0.65320	2	0.22112	N	0.999352	P;D	0.57899	0.476;0.981	B;P	0.55965	0.065;0.788	T	0.19778	-1.0295	9	0.56958	D	0.05	.	5.6173	0.17438	0.0:0.0:1.0:0.0	.	19;19	Q6ZR52-2;G5E974	.;.	T	19	ENSP00000376110:A19T;ENSP00000340651:A19T	ENSP00000340651:A19T	A	+	1	0	ZNF493	21379795	0.696000	0.27757	0.998000	0.56505	0.460000	0.32559	0.384000	0.20668	0.914000	0.36822	0.411000	0.27672	GCC			0.433	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000280563.1		NM_175910	
ZNF729	100287226	hgsc.bcm.edu	37	19	22499502	22499502	+	Nonsense_Mutation	SNP	A	A	T			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr19:22499502A>T	ENST00000601693.1	+	4	3401	c.3283A>T	c.(3283-3285)Aag>Tag	p.K1095*	ZNF729_ENST00000357491.6_Nonsense_Mutation_p.K1067*			A6NN14	ZN729_HUMAN	zinc finger protein 729	1095					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(5)|central_nervous_system(1)|lung(32)|ovary(3)	41						TAGAAAACATAAGGTAATTCA	0.358																																					p.K1095X													.	.			0			c.A3283T																																									SO:0001587	stop_gained	100287226	exon4			AAACATAAGGTAA		CCDS59368.1	19p12	2014-02-14			ENSG00000196350	ENSG00000196350		"""Zinc fingers, C2H2-type"", ""-"""	32464	protein-coding gene	gene with protein product							Standard	NM_001242680		Approved		uc021urs.1	A6NN14	OTTHUMG00000182938	ENST00000601693.1:c.3283A>T	19.37:g.22499502A>T	ENSP00000469582:p.Lys1095*		Somatic	43	0	0		WXS	Illumina HiSeq	.	37	0.41	15	NM_001242680	2	0.00	0	M0QY45	Nonsense_Mutation	SNP	ENST00000601693.1	37	CCDS59368.1	.	.	.	.	.	.	.	.	.	.	.	28.0	4.881826	0.91740	.	.	ENSG00000196350	ENST00000357491	.	.	.	0.96	-1.92	0.07618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	6.4825	0.22071	0.4742:0.5258:0.0:0.0	.	.	.	.	X	1067	.	ENSP00000350085:K1067X	K	+	1	0	ZNF729	22291342	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-2.159000	0.01280	-0.841000	0.04200	-0.900000	0.02857	AAG			0.358	ZNF729-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000464396.1		XM_496301	
ATP4A	495	broad.mit.edu;mdanderson.org	37	19	36041807	36041807	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr19:36041807G>T	ENST00000262623.3	-	21	3036	c.3008C>A	c.(3007-3009)cCc>cAc	p.P1003H		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	1003					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GTAGGGCAGGGGGACCAGCCA	0.627																																					p.P1003H													.	ATP4A	123		0			c.C3008A												69.0	62.0	64.0					19																	36041807		2203	4300	6503	SO:0001583	missense	495	exon21			GGCAGGGGGACCA		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.3008C>A	19.37:g.36041807G>T	ENSP00000262623:p.Pro1003His		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	87	0.07	6	NM_000704	0		0	O00738	Missense_Mutation	SNP	ENST00000262623.3	37	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.581501	0.86748	.	.	ENSG00000105675	ENST00000262623	D	0.95853	-3.83	5.02	5.02	0.67125	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.64402	D	0.000002	D	0.97192	0.9082	M	0.71206	2.165	0.54753	D	0.999982	D	0.55605	0.972	D	0.68192	0.956	D	0.97639	1.0147	10	0.87932	D	0	.	15.8667	0.79071	0.0:0.0:1.0:0.0	.	1003	P20648	ATP4A_HUMAN	H	1003	ENSP00000262623:P1003H	ENSP00000262623:P1003H	P	-	2	0	ATP4A	40733647	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.570000	0.98174	2.595000	0.87683	0.491000	0.48974	CCC			0.627	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000109470.2		NM_000704	
PAPL	390928	mdanderson.org	37	19	39589681	39589681	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr19:39589681G>T	ENST00000331256.5	+	4	678	c.404G>T	c.(403-405)cGt>cTt	p.R135L	PAPL_ENST00000594229.1_Missense_Mutation_p.R135L	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		135						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)|metal ion binding (GO:0046872)	p.R135H(1)									TGGAGTCCCCGTCTGGCTGTG	0.637																																					p.R135L													FLJ16165,colon,carcinoma,0,1	FLJ16165	0	1	1	Substitution - Missense(1)	large_intestine(1)	c.G404T												46.0	51.0	49.0					19																	39589681		2203	4300	6503	SO:0001583	missense	0	exon4			GTCCCCGTCTGGC																												ENST00000331256.5:c.404G>T	19.37:g.39589681G>T	ENSP00000327557:p.Arg135Leu		Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	45	0.07	3	NM_001004318	0		0	B2RN68	Missense_Mutation	SNP	ENST00000331256.5	37	CCDS33018.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.060825	0.55432	.	.	ENSG00000183760	ENST00000331256	D	0.87103	-2.21	5.14	4.1	0.47936	Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	D	0.88036	0.6329	M	0.86651	2.83	0.49798	D	0.999829	B	0.17852	0.024	B	0.22880	0.042	D	0.84916	0.0851	10	0.40728	T	0.16	-10.0438	11.7067	0.51601	0.088:0.0:0.912:0.0	.	135	Q6ZNF0	PAPL_HUMAN	L	135	ENSP00000327557:R135L	ENSP00000327557:R135L	R	+	2	0	AC011443.1	44281521	0.995000	0.38212	0.740000	0.30986	0.875000	0.50365	2.325000	0.43840	1.142000	0.42291	0.655000	0.94253	CGT			0.637	PAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000463810.1			
TPRX1	284355	broad.mit.edu	37	19	48305670	48305670	+	Missense_Mutation	SNP	A	A	G	rs201483839	byFrequency	TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr19:48305670A>G	ENST00000322175.3	-	2	753	c.598T>C	c.(598-600)Tca>Cca	p.S200P	TPRX1_ENST00000543508.1_Missense_Mutation_p.S190P|TPRX1_ENST00000535759.1_Missense_Mutation_p.S297P	NM_198479.2	NP_940881.2	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	200	Gly-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		atcgggactgagattgggcct	0.652													A|||	170	0.0339457	0.0151	0.0447	5008	,	,		12796	0.0456		0.0447	False		,,,				2504	0.0286				p.S200P	Esophageal Squamous(123;175 2281 3051 32395)												TPRX1,NS,carcinoma,0,3	TPRX1	46	3	0			c.T598C							A	PRO/SER	0,3516		0,0,1758	14.0	11.0	12.0		598	-0.8	0.0	19		12	3,6499		0,3,3248	no	missense	TPRX1	NM_198479.2	74	0,3,5006	GG,GA,AA		0.0461,0.0,0.0299	benign	200/412	48305670	3,10015	1758	3251	5009	SO:0001583	missense	284355	exon2			GGACTGAGATTGG		CCDS33066.1	19q13.33	2011-07-08			ENSG00000178928	ENSG00000178928		"""Homeoboxes / PRD class"""	32174	protein-coding gene	gene with protein product		611166					Standard	XM_005258788		Approved	FLJ40321	uc002php.2	Q8N7U7		ENST00000322175.3:c.598T>C	19.37:g.48305670A>G	ENSP00000323455:p.Ser200Pro		Somatic	35	0.1714285714	6		WXS	Illumina HiSeq	Phase_I	42	0.17	7	NM_198479	0		0	A5D8Y3|B2RPL5	Missense_Mutation	SNP	ENST00000322175.3	37	CCDS33066.1	.	.	.	.	.	.	.	.	.	.	a	0.004	-2.349007	0.00219	0.0	4.61E-4	ENSG00000178928	ENST00000322175;ENST00000535759;ENST00000543508	T;T;T	0.19250	2.16;2.16;2.16	0.401	-0.802	0.10889	.	.	.	.	.	T	0.07999	0.0200	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35871	-0.9771	8	0.09338	T	0.73	.	.	.	.	.	200	Q8N7U7	TPRX1_HUMAN	P	200;297;190	ENSP00000323455:S200P;ENSP00000438832:S297P;ENSP00000438712:S190P	ENSP00000323455:S200P	S	-	1	0	TPRX1	52997482	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.289000	0.08365	-3.740000	0.00113	-3.841000	0.00018	TCA			0.652	TPRX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000409868.1		NM_198479	
ASAP2	8853	mdanderson.org	37	2	9533770	9533770	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr2:9533770C>T	ENST00000281419.3	+	24	3018	c.2678C>T	c.(2677-2679)gCg>gTg	p.A893V	ASAP2_ENST00000315273.4_Missense_Mutation_p.A848V|ASAP2_ENST00000491413.1_3'UTR	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	893	Pro-rich.				positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						AAGAAGCCTGCGCCGGGGTAA	0.687																																					p.A893V													.	.			0			c.C2678T												6.0	7.0	7.0					2																	9533770		2148	4199	6347	SO:0001583	missense	8853	exon24			AGCCTGCGCCGGG	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2721	protein-coding gene	gene with protein product	"""centaurin, beta 3"""	603817	"""development and differentiation enhancing factor 2"""	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.2678C>T	2.37:g.9533770C>T	ENSP00000281419:p.Ala893Val		Somatic	20	0	0		WXS	Illumina HiSeq	Phase_I	30	0.10	3	NM_003887	41	0.00	0	D6W4Y8	Missense_Mutation	SNP	ENST00000281419.3	37	CCDS1661.1	.	.	.	.	.	.	.	.	.	.	C	8.244	0.807409	0.16467	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	T;T	0.58797	0.37;0.31	5.25	4.37	0.52481	Src homology-3 domain (1);	2.307350	0.02002	N	0.046399	T	0.49490	0.1560	L	0.34521	1.04	0.21105	N	0.99978	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.29181	-1.0020	10	0.27082	T	0.32	.	7.6686	0.28445	0.0:0.7231:0.1642:0.1127	.	848;893	O43150-2;O43150	.;ASAP2_HUMAN	V	893;848	ENSP00000281419:A893V;ENSP00000316404:A848V	ENSP00000281419:A893V	A	+	2	0	ASAP2	9451221	0.000000	0.05858	0.370000	0.25965	0.577000	0.36160	0.468000	0.22051	1.204000	0.43247	-0.257000	0.10917	GCG			0.687	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000237522.1		NM_003887	
ANKRD36BP2	645784	broad.mit.edu	37	2	89104503	89104504	+	RNA	INS	-	-	C	rs149625899|rs67367050	byFrequency	TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr2:89104503_89104504insC	ENST00000393525.3	+	0	4868									ankyrin repeat domain 36B pseudogene 2																		gtagatttttttcagattttgg	0.307													-|-|C|insertion	512	0.102236	0.1067	0.0965	5008	,	,		29304	0.0694		0.1064	False		,,,				2504	0.1299				.													.	.			0			.																																											0	.			ATTTTTTTCAGAT			2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89104503_89104504insC			Somatic	12	0	0		WXS	Illumina HiSeq	Phase_I	14	0.64	9	.	0		0		RNA	INS	ENST00000393525.3	37																																																																																						0.307	ANKRD36BP2-003	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000323523.1			
SMPD4	55627	broad.mit.edu	37	2	130913640	130913640	+	Silent	SNP	G	G	A			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr2:130913640G>A	ENST00000409031.1	-	14	2522	c.1374C>T	c.(1372-1374)agC>agT	p.S458S	SMPD4_ENST00000473720.1_5'UTR|SMPD4_ENST00000431183.2_Silent_p.S356S|SMPD4_ENST00000453750.1_Silent_p.S207S|SMPD4_ENST00000452225.2_Silent_p.S199S|SMPD4_ENST00000351288.6_Silent_p.S429S|SMPD4_ENST00000339679.7_Silent_p.S316S|SMPD4_ENST00000443958.2_Silent_p.S122S|SMPD4_ENST00000426662.2_Silent_p.S94S	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	419					cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	GCTGGGAGTCGCTGCCCGGAG	0.637																																					p.S458S													.	SMPD4	67		0			c.C1374T												33.0	35.0	35.0					2																	130913640		2203	4299	6502	SO:0001819	synonymous_variant	55627	exon14			GGAGTCGCTGCCC	AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699			32949	protein-coding gene	gene with protein product		610457				16517606	Standard	NM_001171083		Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000409031.1:c.1374C>T	2.37:g.130913640G>A			Somatic	125	0	0		WXS	Illumina HiSeq	Phase_I	176	0.02	4	NM_017951	93	0.00	0	B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	Silent	SNP	ENST00000409031.1	37	CCDS42751.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	5.747|5.747	0.322312|0.322312	0.10900|0.10900	.|.	.|.	ENSG00000136699|ENSG00000136699	ENST00000439886|ENST00000430682	.|.	.|.	.|.	3.8|3.8	-7.59|-7.59	0.01308|0.01308	.|.	.|.	.|.	.|.	.|.	T|.	0.17874|.	0.0429|.	.|.	.|.	.|.	0.26417|0.26417	N|N	0.976162|0.976162	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.27706|.	-1.0066|.	4|.	.|.	.|.	.|.	.|.	4.0144|4.0144	0.09637|0.09637	0.3124:0.1127:0.463:0.1119|0.3124:0.1127:0.463:0.1119	.|.	.|.	.|.	.|.	V|X	333|140	.|.	.|.	A|R	-|-	2|1	0|2	SMPD4|SMPD4	130630110|130630110	0.000000|0.000000	0.05858|0.05858	0.209000|0.209000	0.23619|0.23619	0.560000|0.560000	0.35617|0.35617	-2.077000|-2.077000	0.01371|0.01371	-1.042000|-1.042000	0.03262|0.03262	-0.401000|-0.401000	0.06369|0.06369	GCG|CGA			0.637	SMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254516.3		NM_017751	
DGKD	8527	broad.mit.edu	37	2	234368884	234368884	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr2:234368884C>A	ENST00000264057.2	+	24	2886	c.2874C>A	c.(2872-2874)tgC>tgA	p.C958*	DGKD_ENST00000409813.3_Nonsense_Mutation_p.C914*	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	958					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	AGCAGAAGTGCGAGCTGCCCC	0.602																																					p.C958X													.	DGKD	106		0			c.C2874A												101.0	94.0	97.0					2																	234368884		2203	4300	6503	SO:0001587	stop_gained	8527	exon24			GAAGTGCGAGCTG	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.2874C>A	2.37:g.234368884C>A	ENSP00000264057:p.Cys958*		Somatic	233	0	0		WXS	Illumina HiSeq	Phase_I	257	0.02	4	NM_152879	29	0.00	0	Q14158|Q6PK55|Q8NG53	Nonsense_Mutation	SNP	ENST00000264057.2	37	CCDS2504.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.990939	0.74703	.	.	ENSG00000077044	ENST00000264057;ENST00000409813	.	.	.	4.93	-9.85	0.00476	.	0.310805	0.31542	N	0.007480	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6058	0.56523	0.0:0.5189:0.1503:0.3308	.	.	.	.	X	958;914	.	ENSP00000264057:C958X	C	+	3	2	DGKD	234033623	0.022000	0.18835	0.322000	0.25334	0.373000	0.29922	-0.983000	0.03759	-2.698000	0.00400	-1.119000	0.02030	TGC			0.602	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000257072.2		NM_003648	
SNRPB	6628	hgsc.bcm.edu	37	20	2442426	2442426	+	Silent	SNP	C	C	T	rs371293377		TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr20:2442426C>T	ENST00000438552.2	-	7	861	c.699G>A	c.(697-699)ccG>ccA	p.P233P	SNRPB_ENST00000381342.2_3'UTR|SNORD119_ENST00000515997.1_RNA	NM_198216.1	NP_937859.1	P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptides B and B1	233	Repeat-rich region.				gene expression (GO:0010467)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|histone pre-mRNA 3'end processing complex (GO:0071204)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	histone pre-mRNA DCP binding (GO:0071208)|poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						GGCGCATTCCCGGGGGAGGGG	0.552																																					p.P233P													SNRPB,right_upper_lobe,carcinoma,-1,1	SNRPB	-1	1	0			c.G699A							C	,	0,4406		0,0,2203	48.0	52.0	51.0		,699	0.4	1.0	20		51	2,8598	2.2+/-6.3	0,2,4298	no	utr-3,coding-synonymous	SNRPB	NM_003091.3,NM_198216.1	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	,233/241	2442426	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	6628	exon7			CATTCCCGGGGGA		CCDS13026.1, CCDS13027.1	20p13	2011-10-11			ENSG00000125835	ENSG00000125835			11153	protein-coding gene	gene with protein product		182282		SNRPB1		1376292	Standard	NM_003091		Approved	COD, SmB/SmB', Sm-B/B', snRNP-B	uc002wfz.1	P14678	OTTHUMG00000031694	ENST00000438552.2:c.699G>A	20.37:g.2442426C>T			Somatic	82	0	0		WXS	Illumina HiSeq	.	91	0.04	4	NM_198216	314	0.00	0	Q15490|Q6IB35|Q9UIS5	Silent	SNP	ENST00000438552.2	37	CCDS13026.1																																																																																					0.552	SNRPB-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000077585.2			
MLLT10P1	140678	hgsc.bcm.edu	37	20	29637851	29637851	+	RNA	SNP	C	C	G	rs148007340		TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr20:29637851C>G	ENST00000408392.1	+	0	139																											TCTTGGATTTCTTTCAACACC	0.368																																					.													.	.			0			.																																											140678	.			GGATTTCTTTCAA																													20.37:g.29637851C>G			Somatic	16	0	0		WXS	Illumina HiSeq	.	14	0.36	5	.	23	0.04	1		RNA	SNP	ENST00000408392.1	37																																																																																						0.368	AL441988.1-201	NOVEL	basic	miRNA	miRNA					
SRSF6	6431	mdanderson.org	37	20	42087119	42087119	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr20:42087119G>T	ENST00000244020.3	+	2	332	c.226G>T	c.(226-228)Gat>Tat	p.D76Y		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	76					alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell death (GO:0060548)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of keratinocyte proliferation (GO:0010837)|regulation of wound healing (GO:0061041)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						CCCGCGTCGCGATCGCGACGG	0.741																																					p.D76Y													.	.			0			c.G226T												3.0	3.0	3.0					20																	42087119		1833	3704	5537	SO:0001583	missense	6431	exon2			CGTCGCGATCGCG	U30883	CCDS13318.1	20q12-q13.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000124193	ENSG00000124193		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10788	protein-coding gene	gene with protein product	"""pre-mRNA splicing factor SRP55"", ""SR splicing factor 6"""	601944	"""splicing factor, arginine/serine-rich 6"""	SFRS6		7556075, 20516191	Standard	NM_006275		Approved	SRP55, B52	uc010zwg.2	Q13247	OTTHUMG00000032502	ENST00000244020.3:c.226G>T	20.37:g.42087119G>T	ENSP00000244020:p.Asp76Tyr		Somatic	21	0	0		WXS	Illumina HiSeq	Phase_I	18	0.11	2	NM_006275	102	0.00	0	B7Z6J3|E1P5W6|Q13244|Q13245|Q96J06|Q9UJB8|Q9Y3N7	Missense_Mutation	SNP	ENST00000244020.3	37	CCDS13318.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114703	0.77210	.	.	ENSG00000124193	ENST00000244020	T	0.74106	-0.81	3.59	3.59	0.41128	Nucleotide-binding, alpha-beta plait (1);	0.117031	0.53938	D	0.000047	T	0.74230	0.3689	M	0.76574	2.34	0.80722	D	1	B;B	0.31026	0.028;0.304	B;B	0.32583	0.026;0.148	T	0.77832	-0.2441	10	0.56958	D	0.05	.	14.2152	0.65788	0.0:0.0:1.0:0.0	.	76;76	Q13247;A8K588	SRSF6_HUMAN;.	Y	76	ENSP00000244020:D76Y	ENSP00000244020:D76Y	D	+	1	0	SRSF6	41520533	1.000000	0.71417	0.956000	0.39512	0.388000	0.30384	8.799000	0.91895	1.842000	0.53543	0.558000	0.71614	GAT			0.741	SRSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000079292.1		NM_006275	
COL20A1	57642	mdanderson.org	37	20	61951525	61951525	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr20:61951525G>T	ENST00000358894.6	+	24	3151	c.3051G>T	c.(3049-3051)agG>agT	p.R1017S	COL20A1_ENST00000422202.1_Missense_Mutation_p.R1024S|COL20A1_ENST00000326996.6_Missense_Mutation_p.R1017S|COL20A1_ENST00000435874.1_Missense_Mutation_p.R1024S	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1017	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CCAAGGCCAGGGGCCCCCGGA	0.736																																					p.R1017S													.	.			0			c.G3051T												6.0	7.0	7.0					20																	61951525		1814	3910	5724	SO:0001583	missense	57642	exon24			GGCCAGGGGCCCC	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.3051G>T	20.37:g.61951525G>T	ENSP00000351767:p.Arg1017Ser		Somatic	26	0	0		WXS	Illumina HiSeq	Phase_I	24	0.08	2	NM_020882	0		0	Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	ENST00000358894.6	37	CCDS46628.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.205617	0.58234	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202;ENST00000415763;ENST00000455906	T;T;T;T;T;D	0.90197	4.44;4.44;4.44;4.44;4.44;-2.63	3.67	0.5	0.16919	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.132073	0.47093	D	0.000253	D	0.90580	0.7047	M	0.77103	2.36	0.33680	D	0.611977	D;D	0.58268	0.982;0.969	P;P	0.53450	0.726;0.536	D	0.88729	0.3235	10	0.66056	D	0.02	.	2.9906	0.05982	0.3647:0.2593:0.376:0.0	.	1024;1017	Q9P218-2;Q9P218	.;COKA1_HUMAN	S	1017;1017;1024;1024;120;25	ENSP00000351767:R1017S;ENSP00000323077:R1017S;ENSP00000408690:R1024S;ENSP00000414753:R1024S;ENSP00000410799:R120S;ENSP00000406345:R25S	ENSP00000323077:R1017S	R	+	3	2	COL20A1	61421970	0.578000	0.26717	0.992000	0.48379	0.896000	0.52359	-0.232000	0.09055	0.286000	0.22352	0.462000	0.41574	AGG			0.736	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000144595.2		NM_020882	
TMPRSS3	64699	broad.mit.edu	37	21	43800255	43800255	+	Missense_Mutation	SNP	G	G	T	rs200002841		TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr21:43800255G>T	ENST00000291532.3	-	10	1974	c.1019C>A	c.(1018-1020)aCg>aAg	p.T340K	TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.T340K|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.T424K|TMPRSS3_ENST00000398405.1_Missense_Mutation_p.T338K	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	340	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular sodium ion homeostasis (GO:0006883)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						CCATCCTGACGTCCAGCACAC	0.572																																					p.T340K													.	TMPRSS3	40		0			c.C1019A												67.0	58.0	61.0					21																	43800255		2203	4300	6503	SO:0001583	missense	64699	exon10			CCTGACGTCCAGC	AF201380	CCDS13686.1, CCDS42939.1, CCDS58790.1	21q22.3	2010-04-13			ENSG00000160183	ENSG00000160183		"""Serine peptidases / Transmembrane"""	11877	protein-coding gene	gene with protein product		605511		DFNB10, DFNB8		11462234, 11907649	Standard	NM_032405		Approved		uc002zbc.3	P57727	OTTHUMG00000086796	ENST00000291532.3:c.1019C>A	21.37:g.43800255G>T	ENSP00000291532:p.Thr340Lys		Somatic	121	0.0082644628	1		WXS	Illumina HiSeq	Phase_I	154	0.03	5	NM_001256317	2	0.00	0	D3DSJ6|Q5USC7|Q6ZMC3	Missense_Mutation	SNP	ENST00000291532.3	37	CCDS13686.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.576048	0.65878	.	.	ENSG00000160183	ENST00000291532;ENST00000433957;ENST00000398405;ENST00000380399	D;D;D;D	0.88741	-2.42;-1.53;-1.53;-2.42	4.37	4.37	0.52481	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.149194	0.42821	D	0.000650	D	0.90154	0.6923	M	0.73430	2.235	0.34153	D	0.667771	P;P;D	0.56035	0.823;0.867;0.974	P;P;P	0.53035	0.535;0.499;0.716	D	0.92291	0.5841	9	.	.	.	.	6.7313	0.23385	0.2075:0.0:0.7925:0.0	.	340;340;338	P57727-5;P57727;B7WPR2	.;TMPS3_HUMAN;.	K	340;340;338;424	ENSP00000291532:T340K;ENSP00000411013:T340K;ENSP00000381442:T338K;ENSP00000369762:T424K	.	T	-	2	0	TMPRSS3	42673324	1.000000	0.71417	0.997000	0.53966	0.881000	0.50899	5.442000	0.66575	2.134000	0.65973	0.655000	0.94253	ACG			0.572	TMPRSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000195347.1			
TTC28	23331	broad.mit.edu	37	22	28492359	28492359	+	Silent	SNP	T	T	C			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr22:28492359T>C	ENST00000397906.2	-	11	3726	c.3585A>G	c.(3583-3585)ggA>ggG	p.G1195G		NM_001145418.1	NP_001138890.1	Q96AY4	TTC28_HUMAN	tetratricopeptide repeat domain 28	1195					mitotic nuclear division (GO:0007067)|regulation of mitotic cell cycle (GO:0007346)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)				endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)	12						CCCTTGTCCGTCCCCTTTCTG	0.507																																					p.G1195G													TTC28,caecum,carcinoma,-2,1	TTC28	84	1	0			c.A3585G												171.0	144.0	153.0					22																	28492359		692	1591	2283	SO:0001819	synonymous_variant	23331	exon11			TGTCCGTCCCCTT	AB028966	CCDS46678.1	22q12.1	2013-01-10			ENSG00000100154	ENSG00000100154		"""Tetratricopeptide (TTC) repeat domain containing"""	29179	protein-coding gene	gene with protein product		615098				10470851	Standard	NM_001145418		Approved	KIAA1043	uc003adp.4	Q96AY4	OTTHUMG00000151006	ENST00000397906.2:c.3585A>G	22.37:g.28492359T>C			Somatic	187	0.0106951872	2		WXS	Illumina HiSeq	Phase_I	163	0.02	3	NM_001145418	16	0.00	0	K7ZRV2|O95928|O95929|Q5W189|Q9NTE4|Q9UG31|Q9UGG5|Q9UPV8|Q9Y3S5	Silent	SNP	ENST00000397906.2	37	CCDS46678.1																																																																																					0.507	TTC28-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000320930.2		XM_929318	
FBLN2	2199	broad.mit.edu	37	3	13612701	13612701	+	Silent	SNP	G	G	A			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr3:13612701G>A	ENST00000295760.7	+	2	915	c.846G>A	c.(844-846)gaG>gaA	p.E282E	FBLN2_ENST00000404922.3_Silent_p.E282E|FBLN2_ENST00000492059.1_Silent_p.E282E|FBLN2_ENST00000535798.1_Silent_p.E308E	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	282	N.|Subdomain NB (Cys-free).				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			aggaagaagaggaggaggagg	0.657																																					p.E282E													.	FBLN2	137		0			c.G846A												9.0	12.0	11.0					3																	13612701		2129	4247	6376	SO:0001819	synonymous_variant	2199	exon2			AGAAGAGGAGGAG	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.846G>A	3.37:g.13612701G>A			Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	70	0.04	3	NM_001998	55	0.00	0	B7Z9C5|Q8IUI0|Q8IUI1	Silent	SNP	ENST00000295760.7	37	CCDS46762.1																																																																																					0.657	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000340083.3		NM_001004019	
PBRM1	55193	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	3	52668670	52668671	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr3:52668670_52668671insT	ENST00000296302.7	-	11	1249_1250	c.1248_1249insA	c.(1246-1251)aaatacfs	p.Y417fs	PBRM1_ENST00000409057.1_Frame_Shift_Ins_p.Y417fs|PBRM1_ENST00000394830.3_Frame_Shift_Ins_p.Y417fs|PBRM1_ENST00000356770.4_Frame_Shift_Ins_p.Y385fs|PBRM1_ENST00000337303.4_Frame_Shift_Ins_p.Y417fs|PBRM1_ENST00000409114.3_Frame_Shift_Ins_p.Y417fs|PBRM1_ENST00000409767.1_Frame_Shift_Ins_p.Y417fs|PBRM1_ENST00000410007.1_Frame_Shift_Ins_p.Y417fs			Q86U86	PB1_HUMAN	polybromo 1	417	Bromo 3. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TAATCAGGGTATTTTTTCTTTG	0.347			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																p.Y417fs				Rec	yes		3	3p21	55193	polybromo 1		E	.	PBRM1	1252		0			c.1249_1250insA																																									SO:0001589	frameshift_variant	55193	exon12			CAGGGTATTTTTT	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1249dupA	3.37:g.52668676_52668676dupT	ENSP00000296302:p.Tyr417fs		Somatic	129	0	0		WXS	Illumina HiSeq	.	141	0.32	45	NM_018313	20	0.00	0	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Ins	INS	ENST00000296302.7	37																																																																																						0.347	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000327232.1		NM_018165	
FAM92A1P2	403315	broad.mit.edu	37	4	183960484	183960484	+	RNA	DEL	A	A	-	rs542231248		TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr4:183960484delA	ENST00000502308.1	+	0	1667					NR_003612.1				family with sequence similarity 92, member A1 pseudogene 2																		TTCAACATCCAAAAAAAAAAA	0.308																																					.													.	.			0			.																																											0	.			ACATCCAAAAAAA	BC022019		4q35.1	2012-04-19	2012-04-19	2012-04-19	ENSG00000230219	ENSG00000230219			32287	pseudogene	pseudogene			"""family with sequence similarity 92, member A3"""	FAM92A3		12477932	Standard	NR_003612		Approved	MGC71735, MGC102964	uc003ivi.4		OTTHUMG00000160675		4.37:g.183960484delA			Somatic	4	0	0		WXS	Illumina HiSeq	Phase_I	6	0.33	2	.	0		0		RNA	DEL	ENST00000502308.1	37																																																																																						0.308	FAM92A1P2-002	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000361814.1			
CARD6	84674	broad.mit.edu	37	5	40841684	40841684	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr5:40841684A>G	ENST00000254691.5	+	1	399	c.200A>G	c.(199-201)aAg>aGg	p.K67R	CARD6_ENST00000381677.3_Missense_Mutation_p.K67R	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	67	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GTACAGAAAAAGGGAGAGGCG	0.423																																					p.K67R													.	CARD6	141		0			c.A200G												115.0	120.0	119.0					5																	40841684		2203	4300	6503	SO:0001583	missense	84674	exon1			AGAAAAAGGGAGA	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.200A>G	5.37:g.40841684A>G	ENSP00000254691:p.Lys67Arg		Somatic	140	0.0071428571	1		WXS	Illumina HiSeq	Phase_I	114	0.03	3	NM_032587	3	0.00	0	Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	A	19.16	3.773080	0.69992	.	.	ENSG00000132357	ENST00000254691;ENST00000381677;ENST00000444789;ENST00000509771	T;T	0.51071	0.72;0.72	4.88	4.88	0.63580	DEATH-like (2);Caspase Recruitment (3);	0.097855	0.44688	D	0.000422	T	0.64461	0.2600	M	0.68952	2.095	0.28923	N	0.892005	D	0.89917	1.0	D	0.97110	1.0	T	0.62586	-0.6823	10	0.87932	D	0	-15.0983	10.7802	0.46374	1.0:0.0:0.0:0.0	.	67	Q9BX69	CARD6_HUMAN	R	67	ENSP00000254691:K67R;ENSP00000371093:K67R	ENSP00000254691:K67R	K	+	2	0	CARD6	40877441	0.994000	0.37717	0.850000	0.33497	0.604000	0.37047	2.133000	0.42093	2.045000	0.60652	0.460000	0.39030	AAG			0.423	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000211584.3			
RREB1	6239	mdanderson.org	37	6	7231407	7231407	+	Silent	SNP	C	C	T			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr6:7231407C>T	ENST00000349384.6	+	10	3389	c.3075C>T	c.(3073-3075)agC>agT	p.S1025S	RREB1_ENST00000379933.3_Silent_p.S1025S|RREB1_ENST00000334984.6_Silent_p.S1025S|RREB1_ENST00000379938.2_Silent_p.S1025S	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1025	Pro-rich.				multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCCTGGTCAGCAGCCCTCCAC	0.697																																					p.S1025S													.	.			0			c.C3075T												26.0	30.0	28.0					6																	7231407		2202	4285	6487	SO:0001819	synonymous_variant	6239	exon10			GGTCAGCAGCCCT	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.3075C>T	6.37:g.7231407C>T			Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	51	0.06	3	NM_001003700	12	0.00	0	A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	ENST00000349384.6	37	CCDS34336.1																																																																																					0.697	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000352985.1			
VARS2	57176	hgsc.bcm.edu;broad.mit.edu	37	6	30893760	30893760	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr6:30893760A>G	ENST00000321897.5	+	28	3697	c.3065A>G	c.(3064-3066)gAg>gGg	p.E1022G	VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000542001.1_Missense_Mutation_p.E882G|VARS2_ENST00000416670.2_Missense_Mutation_p.E1022G|VARS2_ENST00000541562.1_Missense_Mutation_p.E1052G			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	1022					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						TCAGAAGGGGAGGCAGGGACT	0.612																																					p.E1052G													.	.			0			c.A3155G												63.0	62.0	62.0					6																	30893760		1509	2709	4218	SO:0001583	missense	57176	exon29			AAGGGGAGGCAGG	AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	21642	protein-coding gene	gene with protein product	"""valine tRNA ligase 2, mitochondrial"""	612802	"""valyl-tRNA synthetase 2-like"", ""valyl-tRNA synthetase like"", ""valyl-tRNA synthetase 2, mitochondrial (putative)"""	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.3065A>G	6.37:g.30893760A>G	ENSP00000316092:p.Glu1022Gly		Somatic	135	0	0		WXS	Illumina HiSeq	.	152	0.05	7	NM_001167734	36	0.00	0	A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Missense_Mutation	SNP	ENST00000321897.5	37	CCDS34387.1	.	.	.	.	.	.	.	.	.	.	A	17.72	3.458988	0.63401	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000541562	T;T;T;T	0.35421	1.31;1.31;1.31;1.31	5.8	0.0291	0.14161	.	0.756675	0.12207	N	0.489691	T	0.09202	0.0227	L	0.54323	1.7	0.09310	N	1	B;B;B;B	0.28933	0.228;0.019;0.034;0.02	B;B;B;B	0.27796	0.083;0.011;0.037;0.01	T	0.31280	-0.9949	10	0.16420	T	0.52	-3.6664	1.6521	0.02774	0.4927:0.1425:0.0878:0.277	.	460;1020;1052;1022	Q5ST30-2;B7ZL25;F5GXJ0;Q5ST30	.;.;.;SYVM_HUMAN	G	1022;1022;882;1052	ENSP00000316092:E1022G;ENSP00000394802:E1022G;ENSP00000438200:E882G;ENSP00000441000:E1052G	ENSP00000316092:E1022G	E	+	2	0	VARS2	31001739	0.000000	0.05858	0.118000	0.21660	0.973000	0.67179	-0.447000	0.06828	0.093000	0.17368	0.533000	0.62120	GAG			0.612	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000076566.2		NM_020442	
COL21A1	81578	broad.mit.edu	37	6	56035495	56035495	+	Missense_Mutation	SNP	G	G	T	rs41271846	byFrequency	TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr6:56035495G>T	ENST00000244728.5	-	5	1375	c.978C>A	c.(976-978)agC>agA	p.S326R	COL21A1_ENST00000370819.1_Missense_Mutation_p.S326R|COL21A1_ENST00000535941.1_Missense_Mutation_p.S326R	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	326	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CATTAATTACGCTGGTTGTTG	0.358																																					p.S326R													.	COL21A1	201		0			c.C978A												79.0	71.0	74.0					6																	56035495		1868	4104	5972	SO:0001583	missense	0	exon5			AATTACGCTGGTT	AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"""Collagens"""	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.978C>A	6.37:g.56035495G>T	ENSP00000244728:p.Ser326Arg		Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	228	0.02	4	NM_030820	13	0.00	0	A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	ENST00000244728.5	37	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	G	7.577	0.667843	0.14710	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811	T;T;T	0.13901	2.55;2.55;2.55	4.24	1.45	0.22620	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);	0.188547	0.36268	N	0.002690	T	0.15782	0.0380	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;0.979	D;P	0.91635	0.999;0.737	T	0.01504	-1.1338	10	0.72032	D	0.01	.	8.6142	0.33822	0.3497:0.0:0.6503:0.0	.	326;326	Q96P44-3;Q96P44	.;COLA1_HUMAN	R	326	ENSP00000244728:S326R;ENSP00000359855:S326R;ENSP00000444384:S326R	ENSP00000244728:S326R	S	-	3	2	COL21A1	56143454	0.904000	0.30761	0.588000	0.28705	0.166000	0.22503	1.220000	0.32491	-0.021000	0.14009	0.591000	0.81541	AGC			0.358	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000041004.2			
TXLNB	167838	broad.mit.edu	37	6	139583903	139583903	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr6:139583903G>T	ENST00000358430.3	-	5	927	c.695C>A	c.(694-696)gCg>gAg	p.A232E		NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	232						cytoplasm (GO:0005737)				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		CCGCTGAAGCGCCTCTTCCTG	0.478																																					p.A232E													.	TXLNB	96		0			c.C695A												122.0	97.0	106.0					6																	139583903		2203	4300	6503	SO:0001583	missense	167838	exon5			TGAAGCGCCTCTT		CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"""chromosome 6 open reading frame 198"""	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.695C>A	6.37:g.139583903G>T	ENSP00000351206:p.Ala232Glu		Somatic	142	0	0		WXS	Illumina HiSeq	Phase_I	179	0.03	6	NM_153235	6	0.00	0	Q5VTF3|Q76L25|Q86T52|Q8N3S2	Missense_Mutation	SNP	ENST00000358430.3	37	CCDS34545.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.036013	0.35893	.	.	ENSG00000164440	ENST00000358430	T	0.30981	1.51	5.75	5.75	0.90469	.	0.094170	0.64402	D	0.000001	T	0.13286	0.0322	N	0.19112	0.55	0.32445	N	0.546208	P	0.38195	0.622	B	0.38378	0.272	T	0.07328	-1.0778	9	.	.	.	-11.384	19.9334	0.97128	0.0:0.0:1.0:0.0	.	232	Q8N3L3	TXLNB_HUMAN	E	232	ENSP00000351206:A232E	.	A	-	2	0	TXLNB	139625596	0.892000	0.30473	0.999000	0.59377	0.363000	0.29612	1.515000	0.35845	2.712000	0.92718	0.655000	0.94253	GCG			0.478	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042458.1		NM_153235	
CCT6P1	643253	broad.mit.edu	37	7	65226641	65226641	+	RNA	SNP	G	G	T			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr7:65226641G>T	ENST00000442266.1	+	0	1167				SNORA15_ENST00000384058.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		AGGTTCTTGCGCAGAATTCTG	0.383																																					.													.	.			0			.																																											0	.			TCTTGCGCAGAAT	BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65226641G>T			Somatic	105	0.0095238095	1		WXS	Illumina HiSeq	Phase_I	137	0.05	7	.	12	0.00	0		RNA	SNP	ENST00000442266.1	37																																																																																						0.383	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000345507.1		NR_003110	
NEFL	4747	broad.mit.edu	37	8	24813554	24813554	+	RNA	SNP	G	G	T			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr8:24813554G>T	ENST00000221169.5	-	0	1070				CTD-2168K21.2_ENST00000607735.1_RNA			P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cell death (GO:0008219)|intermediate filament organization (GO:0045109)|locomotion (GO:0040011)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron apoptotic process (GO:0043524)|neurofilament bundle assembly (GO:0033693)|neuromuscular process controlling balance (GO:0050885)|neuron projection morphogenesis (GO:0048812)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of axonogenesis (GO:0050772)|protein polymerization (GO:0051258)|regulation of axon diameter (GO:0031133)|response to corticosterone (GO:0051412)|response to peptide hormone (GO:0043434)|response to toxic substance (GO:0009636)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|neurofilament (GO:0005883)	identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|protein C-terminus binding (GO:0008022)|structural constituent of cytoskeleton (GO:0005200)	p.A159E(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GCCCTGGAGCGCCTGCTTCTC	0.701																																					p.A159E													NEFL,trunk,malignant_melanoma,0,1	NEFL	47	1	1	Substitution - Missense(1)	skin(1)	c.C476A												9.0	10.0	10.0					8																	24813554		1968	4130	6098			4747	exon1			TGGAGCGCCTGCT		CCDS75712.1	8p21.2	2014-09-17	2008-09-19		ENSG00000104725	ENSG00000277586		"""Intermediate filaments type IV"""	7739	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 110"""	162280	"""neurofilament, light polypeptide 68kDa"""			17620486, 3145240	Standard	NM_006158		Approved	NFL, CMT1F, CMT2E, NF68, PPP1R110	uc003xee.4	P07196	OTTHUMG00000134284		8.37:g.24813554G>T			Somatic	27	0.037037037	1		WXS	Illumina HiSeq	Phase_I	44	0.09	4	NM_006158	1	0.00	0	B9ZVN2|Q16154|Q8IU72	RNA	SNP	ENST00000221169.5	37																																																																																						0.701	NEFL-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript		OTTHUMT00000258943.4		NM_006158	
PENK	5179	broad.mit.edu	37	8	57358406	57358406	+	Missense_Mutation	SNP	C	C	A			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr8:57358406C>A	ENST00000314922.3	-	1	183	c.107G>T	c.(106-108)cGc>cTc	p.R36L	PENK_ENST00000523274.1_5'Flank|PENK_ENST00000518770.1_Missense_Mutation_p.R36L|PENK_ENST00000451791.2_Missense_Mutation_p.R36L|PENK_ENST00000523051.1_Missense_Mutation_p.R36L|RP11-17A4.2_ENST00000518662.1_RNA	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	36					aggressive behavior (GO:0002118)|behavioral fear response (GO:0001662)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|startle response (GO:0001964)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			GCGCACTAGGCGGTAGCTGCA	0.647																																					p.R36L													PENK,caecum,carcinoma,-1,1	PENK	59	1	0			c.G107T												56.0	56.0	56.0					8																	57358406		2203	4299	6502	SO:0001583	missense	5179	exon3			ACTAGGCGGTAGC		CCDS6168.1	8q23-q24	2013-02-26				ENSG00000181195		"""Endogenous ligands"""	8831	protein-coding gene	gene with protein product	"""preproenkephalin"""	131330				6281660	Standard	NM_006211		Approved		uc003xsz.2	P01210		ENST00000314922.3:c.107G>T	8.37:g.57358406C>A	ENSP00000324248:p.Arg36Leu		Somatic	120	0.0083333333	1		WXS	Illumina HiSeq	Phase_I	169	0.04	6	NM_001135690	15	0.00	0	B2RC23|Q6FHC6|Q6FHE6	Missense_Mutation	SNP	ENST00000314922.3	37	CCDS6168.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.525686	0.64860	.	.	ENSG00000181195	ENST00000539312;ENST00000517415;ENST00000314922;ENST00000451791;ENST00000518974;ENST00000523051;ENST00000518770	T;T;T	0.75050	-0.9;-0.9;0.85	5.25	2.43	0.29744	.	0.285837	0.39909	N	0.001228	T	0.72985	0.3529	M	0.70595	2.14	0.41703	D	0.98941	P;B	0.46277	0.875;0.01	P;B	0.46825	0.528;0.033	T	0.67960	-0.5535	10	0.38643	T	0.18	-8.692	7.0761	0.25205	0.3059:0.6151:0.0:0.0791	.	36;36	E5RJ72;P01210	.;PENK_HUMAN	L	36;33;36;36;36;36;36	ENSP00000324248:R36L;ENSP00000400894:R36L;ENSP00000428012:R36L	ENSP00000324248:R36L	R	-	2	0	PENK	57520960	0.998000	0.40836	0.999000	0.59377	0.987000	0.75469	0.706000	0.25690	0.202000	0.20498	0.650000	0.86243	CGC			0.647	PENK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000378645.1			
NPR2	4882	mdanderson.org	37	9	35794017	35794017	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr9:35794017G>T	ENST00000342694.2	+	2	1045	c.790G>T	c.(790-792)Gca>Tca	p.A264S		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	264					bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	GAGTCTCCGTGCAGGCCCCAC	0.572																																					p.A264S													NPR2_ENST00000342694,right_upper_lobe,carcinoma,-2,2	NPR2_ENST00000342694	-2	2	0			c.G790T												72.0	73.0	72.0					9																	35794017		2203	4300	6503	SO:0001583	missense	4882	exon2			CTCCGTGCAGGCC	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.790G>T	9.37:g.35794017G>T	ENSP00000341083:p.Ala264Ser		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	49	0.06	3	NM_003995	17	0.00	0	B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	ENST00000342694.2	37	CCDS6590.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.427546	0.43122	.	.	ENSG00000159899	ENST00000342694	T	0.73469	-0.75	4.11	4.11	0.48088	Extracellular ligand-binding receptor (1);	0.000000	0.40818	N	0.001002	T	0.44912	0.1316	N	0.01352	-0.895	0.37267	D	0.907242	B;B	0.17465	0.022;0.003	B;B	0.14023	0.01;0.006	T	0.50524	-0.8818	10	0.08599	T	0.76	.	15.8785	0.79185	0.0:0.0:1.0:0.0	.	264;264	P20594-2;P20594	.;ANPRB_HUMAN	S	264	ENSP00000341083:A264S	ENSP00000341083:A264S	A	+	1	0	NPR2	35784017	0.988000	0.35896	1.000000	0.80357	0.993000	0.82548	3.100000	0.50275	2.275000	0.75901	0.655000	0.94253	GCA			0.572	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052345.1			
NANS	54187	mdanderson.org	37	9	100839290	100839290	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr9:100839290G>T	ENST00000210444.5	+	3	509	c.439G>T	c.(439-441)Gcc>Tcc	p.A147S	NANS_ENST00000461452.1_3'UTR|TRIM14_ENST00000375098.3_Intron	NM_018946.3	NP_061819.2	Q9NR45	SIAS_HUMAN	N-acetylneuraminic acid synthase	147					lipopolysaccharide biosynthetic process (GO:0009103)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	N-acetylneuraminate synthase activity (GO:0050462)|N-acylneuraminate cytidylyltransferase activity (GO:0008781)|N-acylneuraminate-9-phosphate synthase activity (GO:0047444)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11		Acute lymphoblastic leukemia(62;0.0559)				GGAAAAGACAGCCAAAAAAGG	0.368																																					p.A147S													.	.			0			c.G439T												75.0	70.0	72.0					9																	100839290		2203	4300	6503	SO:0001583	missense	54187	exon3			AAGACAGCCAAAA	AF161387	CCDS6733.1	9p24.1-p23	2008-07-31	2008-07-31		ENSG00000095380	ENSG00000095380			19237	protein-coding gene	gene with protein product	"""sialic acid synthase"""	605202				10749855	Standard	NM_018946		Approved	SAS	uc004ayc.3	Q9NR45	OTTHUMG00000020341	ENST00000210444.5:c.439G>T	9.37:g.100839290G>T	ENSP00000210444:p.Ala147Ser		Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	45	0.07	3	NM_018946	86	0.00	0	B2RE98|Q8WUV9|Q9BWS6|Q9NVD4	Missense_Mutation	SNP	ENST00000210444.5	37	CCDS6733.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.029437	0.93518	.	.	ENSG00000095380	ENST00000210444	T	0.55052	0.54	5.71	5.71	0.89125	Aldolase-type TIM barrel (1);N-acetylneuraminic acid synthase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.62865	0.2463	M	0.77486	2.375	0.80722	D	1	P	0.37663	0.604	B	0.42653	0.394	T	0.66520	-0.5903	10	0.72032	D	0.01	-14.8435	17.79	0.88550	0.0:0.0:1.0:0.0	.	147	Q9NR45	SIAS_HUMAN	S	147	ENSP00000210444:A147S	ENSP00000210444:A147S	A	+	1	0	NANS	99879111	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.375000	0.97178	2.885000	0.99019	0.580000	0.79431	GCC			0.368	NANS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053359.1		NM_018946	
AKNA	80709	mdanderson.org	37	9	117099491	117099491	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr9:117099491A>G	ENST00000307564.4	-	22	4324	c.4163T>C	c.(4162-4164)aTc>aCc	p.I1388T	AKNA_ENST00000374075.5_Missense_Mutation_p.I1307T|AKNA_ENST00000374079.4_Missense_Mutation_p.I333T|AKNA_ENST00000223791.3_Missense_Mutation_p.I848T|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000374088.3_Missense_Mutation_p.I1388T	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1388					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GTCGAGCTGGATGGAGTGCCG	0.667																																					p.I1388T													.	.			0			c.T4163C												44.0	46.0	45.0					9																	117099491		2203	4300	6503	SO:0001583	missense	80709	exon22			AGCTGGATGGAGT	AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.4163T>C	9.37:g.117099491A>G	ENSP00000303769:p.Ile1388Thr		Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	63	0.05	3	NM_030767	48	0.02	1	Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	ENST00000307564.4	37	CCDS6805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.017|9.017	0.984007|0.984007	0.18889|0.18889	.|.	.|.	ENSG00000106948|ENSG00000106948	ENST00000307564;ENST00000374079;ENST00000374088;ENST00000223791;ENST00000374075|ENST00000320310	T;T;T;T;T|.	0.20332|.	2.64;2.08;2.64;2.42;2.64|.	5.13|5.13	2.4|2.4	0.29515|0.29515	.|.	.|.	.|.	.|.	.|.	T|T	0.24160|0.24160	0.0585|0.0585	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B;P|.	0.36535|.	0.421;0.557|.	B;B|.	0.30495|.	0.054;0.116|.	T|T	0.20874|0.20874	-1.0262|-1.0262	9|6	0.56958|0.87932	D|D	0.05|0	10.8936|10.8936	6.9339|6.9339	0.24457|0.24457	0.7856:0.0:0.2144:0.0|0.7856:0.0:0.2144:0.0	.|.	1388;1307|.	Q7Z591;Q7Z591-2|.	AKNA_HUMAN;.|.	T|P	1388;333;1388;848;1307|399	ENSP00000303769:I1388T;ENSP00000363192:I333T;ENSP00000363201:I1388T;ENSP00000223791:I848T;ENSP00000363188:I1307T|.	ENSP00000223791:I848T|ENSP00000314538:S399P	I|S	-|-	2|1	0|0	AKNA|AKNA	116139312|116139312	0.279000|0.279000	0.24239|0.24239	0.589000|0.589000	0.28718|0.28718	0.246000|0.246000	0.25737|0.25737	2.133000|2.133000	0.42093|0.42093	0.780000|0.780000	0.33566|0.33566	0.460000|0.460000	0.39030|0.39030	ATC|TCC			0.667	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053767.2		NM_030767	
SETX	23064	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	135140214	135140214	+	Missense_Mutation	SNP	C	C	G			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr9:135140214C>G	ENST00000224140.5	-	26	7628	c.7446G>C	c.(7444-7446)gaG>gaC	p.E2482D	SETX_ENST00000393220.1_Missense_Mutation_p.E2449D|SETX_ENST00000477049.1_5'UTR|SETX_ENST00000372169.2_Missense_Mutation_p.E2511D	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2482					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GTCTGGACCCCTCTGGGGCTA	0.512																																					p.E2482D													.	.			0			c.G7446C												102.0	104.0	104.0					9																	135140214		2203	4300	6503	SO:0001583	missense	23064	exon26			GGACCCCTCTGGG	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.7446G>C	9.37:g.135140214C>G	ENSP00000224140:p.Glu2482Asp		Somatic	70	0	0		WXS	Illumina HiSeq	.	88	0.25	22	NM_015046	57	0.54	31	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.187040	0.78789	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.92965	-2.2;-3.14;-2.61;-1.91	4.83	3.91	0.45181	.	0.469982	0.19572	N	0.111080	D	0.94578	0.8253	M	0.70595	2.14	0.26647	N	0.972177	D;D;D	0.76494	0.996;0.999;0.999	P;D;D	0.74348	0.895;0.961;0.983	D	0.87829	0.2643	10	0.40728	T	0.16	.	10.9952	0.47571	0.0:0.9058:0.0:0.0942	.	2449;2482;2511	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	D	2482;753;2511;2449	ENSP00000224140:E2482D;ENSP00000409143:E753D;ENSP00000361242:E2511D;ENSP00000376913:E2449D	ENSP00000224140:E2482D	E	-	3	2	SETX	134130035	0.039000	0.19947	0.836000	0.33094	0.271000	0.26615	0.486000	0.22340	2.385000	0.81259	0.561000	0.74099	GAG			0.512	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054774.3		NM_015046	
CEL	1056	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	135940444	135940444	+	Missense_Mutation	SNP	G	G	A	rs201336247		TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chr9:135940444G>A	ENST00000372080.4	+	4	383	c.367G>A	c.(367-369)Gtt>Att	p.V123I	CEL_ENST00000351304.7_Missense_Mutation_p.V120I	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	120					cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)	p.V123I(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GGACCTGCCCGTTATGATCTG	0.652													g|||	1	0.000199681	0.0	0.0	5008	,	,		14119	0.0		0.001	False		,,,				2504	0.0				p.V123I													CEL,NS,carcinoma,0,1	CEL	0	1	1	Substitution - Missense(1)	endometrium(1)	c.G367A							A	ILE/VAL	0,3848		0,0,1924	72.0	78.0	76.0		367	2.3	0.0	9		76	1,8217		0,1,4108	yes	missense	CEL	NM_001807.3	29	0,1,6032	AA,AG,GG		0.0122,0.0,0.0083	probably-damaging	123/757	135940444	1,12065	1924	4109	6033	SO:0001583	missense	1056	exon4			CTGCCCGTTATGA	M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"""bile salt-stimulated lipase"""	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.367G>A	9.37:g.135940444G>A	ENSP00000361151:p.Val123Ile		Somatic	51	0	0		WXS	Illumina HiSeq	.	62	0.29	18	NM_001807	24	0.46	11	Q16398|Q5T7U7|Q9UCH1|Q9UP41	Missense_Mutation	SNP	ENST00000372080.4	37	CCDS43896.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.973456	0.34848	0.0	1.22E-4	ENSG00000170835	ENST00000372080;ENST00000351304;ENST00000303626	D;D	0.83673	-1.75;-1.75	5.16	2.34	0.29019	Carboxylesterase, type B (1);	0.237284	0.41712	N	0.000832	D	0.91199	0.7227	M	0.91920	3.255	0.40334	D	0.978953	D	0.89917	1.0	D	0.83275	0.996	D	0.89881	0.4030	10	0.87932	D	0	.	8.4174	0.32678	0.1322:0.1252:0.7427:0.0	.	120	P19835	CEL_HUMAN	I	123;120;123	ENSP00000361151:V123I;ENSP00000342217:V120I	ENSP00000304021:V123I	V	+	1	0	CEL	134930265	1.000000	0.71417	0.039000	0.18376	0.010000	0.07245	5.360000	0.66086	0.211000	0.20683	-0.927000	0.02713	GTT			0.652	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054823.1			
MT-CO2	4513	hgsc.bcm.edu	37	M	7981	7981	+	Silent	SNP	C	C	T			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chrM:7981C>T	ENST00000361739.1	+	1	396	c.396C>T	c.(394-396)gaC>gaT	p.D132D	MT-TG_ENST00000387429.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-TA_ENST00000387392.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-ND4L_ENST00000361335.1_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-TD_ENST00000387419.1_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-ND4_ENST00000361381.2_5'Flank|MT-TK_ENST00000387421.1_RNA|MT-CO3_ENST00000362079.2_5'Flank|MT-ATP8_ENST00000361851.1_5'Flank|MT-TW_ENST00000387382.1_RNA			P00403	COX2_HUMAN	mitochondrially encoded cytochrome c oxidase II	132					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|respiratory chain complex IV (GO:0045277)	copper ion binding (GO:0005507)|cytochrome-c oxidase activity (GO:0004129)			endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1)	19						GAACCAGGCGACCTGCGACTC	0.478																																					p.D132D													.	.			0			c.C396T																																									SO:0001819	synonymous_variant	5743	exon1			AGGCGACCTGCGA			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198712	ENSG00000198712		"""Mitochondrial respiratory chain complex / Complex IV"""	7421	protein-coding gene	gene with protein product		516040	"""cytochrome c oxidase II"""	MTCO2		1712754, 1989603	Standard			Approved	COX2, CO2		P00403		ENST00000361739.1:c.396C>T	M.37:g.7981C>T			Somatic	7	0	0		WXS	Illumina HiSeq	.	16	0.38	6	ENST00000361739	0		0	Q37526	Silent	SNP	ENST00000361739.1	37																																																																																						0.478	MT-CO2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				YP_003024029	
FAM120C	54954	hgsc.bcm.edu	37	X	54209318	54209318	+	Missense_Mutation	SNP	A	A	G	rs199506922		TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chrX:54209318A>G	ENST00000375180.2	-	1	370	c.314T>C	c.(313-315)cTg>cCg	p.L105P	FAM120C_ENST00000497680.1_5'Flank|FAM120C_ENST00000477084.1_Missense_Mutation_p.L105P|FAM120C_ENST00000328235.4_Missense_Mutation_p.L105P	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	105							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CGGCGGCGGCAGCGGAGGGTG	0.746													a|||	2	0.000529801	0.0	0.0	3775	,	,		7371	0.0		0.001	False		,,,				2504	0.001				p.L105P													.	.			0			c.T314C												3.0	4.0	3.0					X																	54209318		1477	2706	4183	SO:0001583	missense	54954	exon1			GGCGGCAGCGGAG	AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"""chromosome X open reading frame 17"""	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.314T>C	X.37:g.54209318A>G	ENSP00000364324:p.Leu105Pro		Somatic	11	0	0		WXS	Illumina HiSeq	.	17	0.53	9	NM_017848	0		0	B2RMT7	Missense_Mutation	SNP	ENST00000375180.2	37	CCDS14356.1	.	.	.	.	.	.	.	.	.	.	a	9.339	1.062497	0.19987	.	.	ENSG00000184083	ENST00000375180;ENST00000328235;ENST00000477084	T;T;T	0.47869	1.82;1.36;0.83	2.73	1.45	0.22620	.	0.278989	0.27531	N	0.018943	T	0.19327	0.0464	N	0.03608	-0.345	0.47476	D	0.999433	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.03008	-1.1083	10	0.32370	T	0.25	0.3639	4.7246	0.12935	0.4324:0.0:0.5676:0.0	.	105;105;105	F8W881;Q9NX05-2;Q9NX05	.;.;F120C_HUMAN	P	105	ENSP00000364324:L105P;ENSP00000329896:L105P;ENSP00000420718:L105P	ENSP00000329896:L105P	L	-	2	0	FAM120C	54226043	0.970000	0.33590	0.968000	0.41197	0.426000	0.31534	0.267000	0.18552	0.262000	0.21774	0.378000	0.23410	CTG			0.746	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000056795.2		NM_017848	
ZC3H12B	340554	broad.mit.edu	37	X	64722643	64722643	+	Missense_Mutation	SNP	A	A	C			TCGA-2G-AAG6-01A-11D-A42Y-10	TCGA-2G-AAG6-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f410a81-1ad8-485f-ac66-c9b1106b49b9	c1a298c0-41ed-4c0b-a8c1-d93d908e7c5a	g.chrX:64722643A>C	ENST00000338957.4	+	5	2132	c.2065A>C	c.(2065-2067)Acc>Ccc	p.T689P	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.T678P	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	689							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCCTGGGGCAACCCCCCAGCC	0.602																																					p.T689P													.	ZC3H12B	144		0			c.A2065C												39.0	41.0	40.0					X																	64722643		1979	4143	6122	SO:0001583	missense	340554	exon5			GGGGCAACCCCCC	BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"""Zinc fingers, CCCH-type domain containing"""	17407	protein-coding gene	gene with protein product	"""MCP induced protein 2"""	300889	"""chromosome X open reading frame 32"""	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.2065A>C	X.37:g.64722643A>C	ENSP00000340839:p.Thr689Pro		Somatic	65	0.1692307692	11		WXS	Illumina HiSeq	Phase_I	153	0.14	21	NM_001010888	1	0.00	0	B2RTQ3|E9PAJ6|Q5H9C0	Missense_Mutation	SNP	ENST00000338957.4	37	CCDS48131.2	.	.	.	.	.	.	.	.	.	.	A	5.107	0.205381	0.09704	.	.	ENSG00000102053	ENST00000338957;ENST00000423889;ENST00000218172	T;T	0.24538	1.85;1.85	5.79	0.605	0.17553	.	0.473927	0.24861	N	0.035007	T	0.16981	0.0408	L	0.40543	1.245	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15150	-1.0447	10	0.45353	T	0.12	-20.4966	5.4048	0.16316	0.5622:0.2822:0.1556:0.0	.	678	Q5HYM0	ZC12B_HUMAN	P	689;678;625	ENSP00000340839:T689P;ENSP00000408077:T678P	ENSP00000218172:T625P	T	+	1	0	ZC3H12B	64639368	0.691000	0.27709	0.100000	0.21137	0.771000	0.43674	1.427000	0.34881	-0.017000	0.14103	-0.478000	0.04885	ACC			0.602	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000378734.2		XM_293334	
