#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_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_Mutation_Status	i_NTotCov	i_NVarCov	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_TTotCov	i_TVarCov	i_Transcript_Id	i_Trna_alt1	i_Trna_alt2	i_Trna_ref	i_Trna_tot	i_Trna_var	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_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
DDI2	84301	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	15957021	15957021	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr1:15957021C>T	ENST00000480945.1	+	3	641	c.470C>T	c.(469-471)cCa>cTa	p.P157L		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	157							aspartic-type endopeptidase activity (GO:0004190)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		GAACGCAATCCACCCCTGGCA	0.502																																					p.P157L		.											.	DDI2-44	0			c.C470T						.						90.0	85.0	86.0					1																	15957021		2203	4300	6503	SO:0001583	missense	84301	exon3			GCAATCCACCCCT		CCDS30607.1	1p36.13	2010-05-04	2010-05-04		ENSG00000197312	ENSG00000197312			24578	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 2 (S. cerevisiae)"""				Standard	NM_032341		Approved	MGC14844	uc001awx.2	Q5TDH0	OTTHUMG00000002381	ENST00000480945.1:c.470C>T	1.37:g.15957021C>T	ENSP00000417748:p.Pro157Leu	Somatic	138	0		WXS	Illumina HiSeq	Phase_I	92	33	NM_032341	0	0	3	5	2	A8KAE1|Q7RTZ0|Q9BRT1	Missense_Mutation	SNP	ENST00000480945.1	37	CCDS30607.1	.	.	.	.	.	.	.	.	.	.	C	31	5.082015	0.94050	.	.	ENSG00000197312	ENST00000480945	T	0.43294	0.95	5.67	5.67	0.87782	.	0.000000	0.85682	U	0.000000	T	0.73674	0.3617	M	0.91038	3.17	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.79492	-0.1781	10	0.87932	D	0	-24.5775	19.3867	0.94560	0.0:1.0:0.0:0.0	.	157	Q5TDH0	DDI2_HUMAN	L	157	ENSP00000417748:P157L	ENSP00000449475:P42L	P	+	2	0	DDI2	15829608	1.000000	0.71417	0.998000	0.56505	0.950000	0.60333	7.323000	0.79105	2.684000	0.91462	0.650000	0.86243	CCA	.		0.502	DDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006826.1	NM_032341	
LYPLA2	11313	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	24124297	24124297	+	IGR	SNP	G	G	T			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr1:24124297G>T	ENST00000374514.3	+	0	1810				GALE_ENST00000470383.1_5'Flank|GALE_ENST00000374497.3_Missense_Mutation_p.P139H	NM_007260.2	NP_009191.1	O95372	LYPA2_HUMAN	lysophospholipase II						fatty acid metabolic process (GO:0006631)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)			endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		CAGGTACTGGGGGTTCCCGTA	0.587																																					p.P139H		.											.	GALE-90	0			c.C416A						.																																			SO:0001628	intergenic_variant	2582	exon6			TACTGGGGGTTCC	AF098668	CCDS241.1	1p36.11	2008-08-08			ENSG00000011009	ENSG00000011009	3.1.1.5		6738	protein-coding gene	gene with protein product							Standard	NM_007260		Approved	APT-2	uc001bht.3	O95372	OTTHUMG00000002961		1.37:g.24124297G>T		Somatic	93	0		WXS	Illumina HiSeq	Phase_I	57	29	NM_000403	0	0	78	168	90	Q7Z4Z2	Missense_Mutation	SNP	ENST00000374514.3	37	CCDS241.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.199561	0.58126	.	.	ENSG00000117308	ENST00000374498;ENST00000374497;ENST00000429356;ENST00000418277;ENST00000425913;ENST00000445705	D;D;D;D;D	0.93307	-3.2;-3.2;-3.2;-3.2;-3.2	4.72	3.81	0.43845	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.97349	0.9133	H	0.94183	3.505	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.97877	1.0289	10	0.87932	D	0	-12.5969	12.5955	0.56468	0.0812:0.0:0.9188:0.0	.	65;75;139;139	B3KQ39;E9PH43;Q38G75;Q14376	.;.;.;GALE_HUMAN	H	75;139;75;75;139;139	ENSP00000363621:P139H;ENSP00000398585:P75H;ENSP00000414719:P75H;ENSP00000393359:P139H;ENSP00000398257:P139H	ENSP00000363621:P139H	P	-	2	0	GALE	23996884	1.000000	0.71417	1.000000	0.80357	0.406000	0.30931	9.191000	0.94940	1.224000	0.43551	-0.136000	0.14681	CCC	G|1.000;C|0.000		0.587	LYPLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008245.1		
NUDC	10726	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	27250638	27250638	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr1:27250638A>G	ENST00000321265.5	+	2	263	c.140A>G	c.(139-141)gAa>gGa	p.E47G		NM_006600.3	NP_006591.1	Q9Y266	NUDC_HUMAN	nudC nuclear distribution protein	47					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)				cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)		ATTGGAGGAGAAGAAGGGATG	0.458																																					p.E47G		.											.	NUDC-91	0			c.A140G						.						90.0	87.0	88.0					1																	27250638		2203	4300	6503	SO:0001583	missense	10726	exon2			GAGGAGAAGAAGG		CCDS292.1	1p35-p34	2013-08-06	2013-08-06		ENSG00000090273	ENSG00000090273			8045	protein-coding gene	gene with protein product		610325	"""nuclear distribution gene C homolog (A. nidulans)"", ""nuclear distribution C homolog (A. nidulans)"""				Standard	NM_006600		Approved	NudC	uc001bng.2	Q9Y266	OTTHUMG00000004226	ENST00000321265.5:c.140A>G	1.37:g.27250638A>G	ENSP00000319664:p.Glu47Gly	Somatic	71	0		WXS	Illumina HiSeq	Phase_I	74	31	NM_006600	0	0	133	278	145	Q5QP31|Q5QP35|Q9H0N2|Q9Y2B6	Missense_Mutation	SNP	ENST00000321265.5	37	CCDS292.1	.	.	.	.	.	.	.	.	.	.	A	13.28	2.191460	0.38707	.	.	ENSG00000090273	ENST00000435827;ENST00000321265	D	0.81908	-1.55	5.49	5.49	0.81192	.	0.143063	0.64402	D	0.000008	T	0.70798	0.3265	N	0.16790	0.44	0.54753	D	0.999987	B	0.06786	0.001	B	0.13407	0.009	T	0.65475	-0.6159	10	0.18710	T	0.47	-0.1195	14.4801	0.67576	1.0:0.0:0.0:0.0	.	47	Q9Y266	NUDC_HUMAN	G	51;47	ENSP00000319664:E47G	ENSP00000319664:E47G	E	+	2	0	NUDC	27123225	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.005000	0.88553	2.222000	0.72286	0.533000	0.62120	GAA	.		0.458	NUDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012172.2		
DOCK7	85440	hgsc.bcm.edu;bcgsc.ca	37	1	63119666	63119666	+	Silent	SNP	T	T	C			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr1:63119666T>C	ENST00000340370.5	-	3	326	c.309A>G	c.(307-309)gtA>gtG	p.V103V	DOCK7_ENST00000404627.2_Silent_p.V103V|DOCK7_ENST00000251157.5_Silent_p.V103V	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	103					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TTTCTTCAGGTACAGCTGAAA	0.388																																					p.V103V		.											.	DOCK7-92	0			c.A309G						.						56.0	57.0	57.0					1																	63119666		2203	4300	6503	SO:0001819	synonymous_variant	85440	exon3			TTCAGGTACAGCT		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.309A>G	1.37:g.63119666T>C		Somatic	69	0		WXS	Illumina HiSeq	Phase_I	56	4	NM_001272002	0	0	0	0	0	Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Silent	SNP	ENST00000340370.5	37	CCDS30734.1																																																																																			.		0.388	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407	
CTH	1491	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	70877247	70877247	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr1:70877247G>C	ENST00000370938.3	+	1	293	c.149G>C	c.(148-150)gGg>gCg	p.G50A	CTH_ENST00000411986.2_Missense_Mutation_p.G50A|CTH_ENST00000346806.2_Missense_Mutation_p.G50A|CTH_ENST00000464926.1_3'UTR	NM_001902.5	NP_001893.2	Q96IQ7	VSIG2_HUMAN	cystathionine gamma-lyase	0	Ig-like V-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						TTCAAGCAAGGGGCGCCTGGC	0.572																																					p.G50A		.											.	CTH-91	0			c.G149C						.						51.0	50.0	50.0					1																	70877247		2203	4300	6503	SO:0001583	missense	1491	exon1			AGCAAGGGGCGCC	BC015807	CCDS650.1, CCDS651.1, CCDS53333.1	1p31.1	2014-06-24	2014-06-24		ENSG00000116761	ENSG00000116761	4.4.1.1		2501	protein-coding gene	gene with protein product		607657	"""cystathionase (cystathionine gamma-lyase)"""			1339280	Standard	NM_001902		Approved		uc001dfd.3	P32929	OTTHUMG00000009352	ENST00000370938.3:c.149G>C	1.37:g.70877247G>C	ENSP00000359976:p.Gly50Ala	Somatic	98	0		WXS	Illumina HiSeq	Phase_I	83	29	NM_001190463	0	0	18	35	17	O95791|Q9NX42	Missense_Mutation	SNP	ENST00000370938.3	37	CCDS650.1	.	.	.	.	.	.	.	.	.	.	G	0.025	-1.375323	0.01214	.	.	ENSG00000116761	ENST00000411986;ENST00000370938;ENST00000346806	D;D;D	0.83673	-1.75;-1.55;-1.75	5.18	-8.32	0.00996	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	1.452490	0.03681	N	0.245551	T	0.29882	0.0747	N	0.03115	-0.41	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.14023	0.01;0.002;0.001	T	0.35822	-0.9773	10	0.20519	T	0.43	-5.4518	1.6154	0.02702	0.3741:0.2347:0.2428:0.1485	.	50;50;50	E9PDV0;P32929-2;P32929	.;.;CGL_HUMAN	A	50	ENSP00000413407:G50A;ENSP00000359976:G50A;ENSP00000311554:G50A	ENSP00000311554:G50A	G	+	2	0	CTH	70649835	0.000000	0.05858	0.000000	0.03702	0.237000	0.25408	-0.581000	0.05820	-1.909000	0.01085	-2.768000	0.00120	GGG	.		0.572	CTH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025918.1	NM_001902	
DNTTIP2	30836	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	94337674	94337674	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr1:94337674C>A	ENST00000436063.2	-	5	2078	c.2021G>T	c.(2020-2022)aGa>aTa	p.R674I		NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	674					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		CTTGTAAAATCTTTTCGGGTC	0.408																																					p.R674I		.											.	.	0			c.G2021T						.						265.0	258.0	260.0					1																	94337674		1860	4107	5967	SO:0001583	missense	30836	exon5			TAAAATCTTTTCG	AY394925	CCDS44174.1	1p22.1	2008-02-05			ENSG00000067334	ENSG00000067334			24013	protein-coding gene	gene with protein product	"""acidic 82 kDa protein mRNA"""	611199				15047147	Standard	NM_014597		Approved	HSU15552, ERBP, TdIF2	uc001dqf.3	Q5QJE6	OTTHUMG00000010268	ENST00000436063.2:c.2021G>T	1.37:g.94337674C>A	ENSP00000411010:p.Arg674Ile	Somatic	338	1		WXS	Illumina HiSeq	Phase_I	302	135	NM_014597	0	0	12	21	9	Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9	Missense_Mutation	SNP	ENST00000436063.2	37	CCDS44174.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.550698	0.86127	.	.	ENSG00000067334	ENST00000436063	T	0.51817	0.69	6.02	5.1	0.69264	Fcf2 pre-rRNA processing (1);	0.159613	0.50627	D	0.000114	T	0.66607	0.2806	M	0.91920	3.255	0.58432	D	0.999999	D	0.89917	1.0	D	0.81914	0.995	T	0.75502	-0.3295	10	0.87932	D	0	.	11.1086	0.48218	0.0:0.7959:0.1307:0.0734	.	674	Q5QJE6	TDIF2_HUMAN	I	674	ENSP00000411010:R674I	ENSP00000411010:R674I	R	-	2	0	DNTTIP2	94110262	1.000000	0.71417	0.974000	0.42286	0.972000	0.66771	4.733000	0.62036	1.539000	0.49286	0.650000	0.86243	AGA	.		0.408	DNTTIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028317.2	NM_014597	
SETDB1	9869	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	150936790	150936790	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr1:150936790G>A	ENST00000271640.5	+	22	4016	c.3826G>A	c.(3826-3828)Gag>Aag	p.E1276K	RP11-316M1.12_ENST00000560481.1_RNA|RP11-316M1.12_ENST00000561111.1_RNA|CERS2_ENST00000561294.1_3'UTR|SETDB1_ENST00000368969.4_Missense_Mutation_p.E1275K|CERS2_ENST00000345896.4_5'Flank	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	1276	Post-SET. {ECO:0000255|PROSITE- ProRule:PRU00155}.				bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGAAGGCAAGGAGCTACTCTG	0.507																																					p.E1276K		.											.	SETDB1-228	0			c.G3826A						.						183.0	141.0	155.0					1																	150936790		2203	4300	6503	SO:0001583	missense	9869	exon22			GGCAAGGAGCTAC	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.3826G>A	1.37:g.150936790G>A	ENSP00000271640:p.Glu1276Lys	Somatic	88	0		WXS	Illumina HiSeq	Phase_I	63	16	NM_001145415	0	0	11	22	11	A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	ENST00000271640.5	37	CCDS44217.1	.	.	.	.	.	.	.	.	.	.	G	8.523	0.869314	0.17322	.	.	ENSG00000143379	ENST00000271640;ENST00000368969	D;D	0.87029	-2.2;-2.2	4.81	4.81	0.61882	Post-SET domain (2);	0.167783	0.50627	D	0.000103	T	0.51483	0.1677	N	0.04090	-0.28	0.80722	D	1	B;B	0.19445	0.036;0.02	B;B	0.17979	0.02;0.007	T	0.55373	-0.8151	10	0.02654	T	1	.	11.2196	0.48846	0.0851:0.0:0.9149:0.0	.	1275;1276	Q15047-3;Q15047	.;SETB1_HUMAN	K	1276;1275	ENSP00000271640:E1276K;ENSP00000357965:E1275K	ENSP00000271640:E1276K	E	+	1	0	SETDB1	149203414	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.694000	0.84235	2.493000	0.84123	0.462000	0.41574	GAG	.		0.507	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2		
SLC27A3	11000	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	153752431	153752431	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr1:153752431A>T	ENST00000368661.3	+	10	2211	c.2146A>T	c.(2146-2148)Aca>Tca	p.T716S	SLC27A3_ENST00000271857.2_Missense_Mutation_p.T797S|SLC27A3_ENST00000484014.1_3'UTR	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	716					fatty acid metabolic process (GO:0006631)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA synthase activity (GO:0004321)|ligase activity (GO:0016874)|nucleotide binding (GO:0000166)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCTGCCCCTCACAACTGCCCG	0.597																																					p.T716S		.											.	SLC27A3-91	0			c.A2146T						.						79.0	59.0	66.0					1																	153752431		2203	4300	6503	SO:0001583	missense	11000	exon10			CCCCTCACAACTG	BC009916	CCDS1053.1	1q21.1	2013-05-22			ENSG00000143554	ENSG00000143554		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10997	protein-coding gene	gene with protein product		604193				9671728	Standard	NM_024330		Approved	FATP3, MGC4365, ACSVL3	uc001fcz.3	Q5K4L6	OTTHUMG00000037155	ENST00000368661.3:c.2146A>T	1.37:g.153752431A>T	ENSP00000357650:p.Thr716Ser	Somatic	56	0		WXS	Illumina HiSeq	Phase_I	40	18	NM_024330	0	0	15	36	21	Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	Missense_Mutation	SNP	ENST00000368661.3	37	CCDS1053.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.033819	0.75504	.	.	ENSG00000143554	ENST00000271857;ENST00000368661	T;T	0.58797	0.31;0.33	4.36	4.36	0.52297	.	0.131608	0.49916	D	0.000131	T	0.47710	0.1460	L	0.49513	1.565	0.35861	D	0.827484	P	0.47545	0.897	P	0.51945	0.685	T	0.49331	-0.8951	10	0.33940	T	0.23	-10.5075	10.175	0.42933	1.0:0.0:0.0:0.0	.	716	Q5K4L6	S27A3_HUMAN	S	797;716	ENSP00000271857:T797S;ENSP00000357650:T716S	ENSP00000271857:T797S	T	+	1	0	SLC27A3	152019055	1.000000	0.71417	0.999000	0.59377	0.431000	0.31685	6.078000	0.71282	1.976000	0.57569	0.477000	0.44152	ACA	.		0.597	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_024330	
DDX59	83479	hgsc.bcm.edu;broad.mit.edu	37	1	200635600	200635600	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr1:200635600G>C	ENST00000331314.6	-	2	482	c.269C>G	c.(268-270)cCc>cGc	p.P90R	DDX59_ENST00000367348.3_Missense_Mutation_p.P90R|DDX59_ENST00000447706.2_Missense_Mutation_p.P90R	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	90						cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						TGACTTAACGGGCTCTTCAGA	0.522																																					p.P90R		.											.	DDX59-155	0			c.C269G						.						76.0	73.0	74.0					1																	200635600		2203	4300	6503	SO:0001583	missense	83479	exon2			TTAACGGGCTCTT	BC041801	CCDS30964.1	1q32.1	2010-07-14			ENSG00000118197	ENSG00000118197		"""Zinc fingers, HIT-type"", ""DEAD-boxes"""	25360	protein-coding gene	gene with protein product		615464					Standard	NM_001031725		Approved	DKFZP564B1023, ZNHIT5	uc009wzk.3	Q5T1V6	OTTHUMG00000035725	ENST00000331314.6:c.269C>G	1.37:g.200635600G>C	ENSP00000330460:p.Pro90Arg	Somatic	50	0		WXS	Illumina HiSeq	Phase_I	45	3	NM_001031725	0	0	13	13	0	Q6PJL2|Q8IVW3|Q9H0W3	Missense_Mutation	SNP	ENST00000331314.6	37	CCDS30964.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.702280	0.68501	.	.	ENSG00000118197	ENST00000447706;ENST00000367348;ENST00000331314;ENST00000436897	T;T;T;T	0.50001	1.42;1.44;1.8;0.76	5.33	5.33	0.75918	.	0.052721	0.85682	D	0.000000	T	0.47691	0.1459	M	0.61703	1.905	0.80722	D	1	P;P	0.38473	0.633;0.633	B;B	0.33750	0.169;0.169	T	0.52351	-0.8587	10	0.48119	T	0.1	-19.137	19.0716	0.93140	0.0:0.0:1.0:0.0	.	90;90	B7Z5N6;Q5T1V6	.;DDX59_HUMAN	R	90	ENSP00000394367:P90R;ENSP00000356317:P90R;ENSP00000330460:P90R;ENSP00000391312:P90R	ENSP00000330460:P90R	P	-	2	0	DDX59	198902223	1.000000	0.71417	0.988000	0.46212	0.825000	0.46686	9.440000	0.97547	2.505000	0.84491	0.550000	0.68814	CCC	.		0.522	DDX59-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086883.2	NM_001031725.4	
BTG2	7832	broad.mit.edu	37	1	203274779	203274779	+	Silent	SNP	C	C	T			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr1:203274779C>T	ENST00000290551.4	+	1	116	c.45C>T	c.(43-45)gcC>gcT	p.A15A	RP11-134P9.1_ENST00000457348.1_lincRNA	NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BTG family, member 2	15					anterior/posterior pattern specification (GO:0009952)|associative learning (GO:0008306)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system neuron development (GO:0021954)|dentate gyrus development (GO:0021542)|DNA repair (GO:0006281)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of translation (GO:0017148)|neuron projection development (GO:0031175)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|protein methylation (GO:0006479)|response to electrical stimulus (GO:0051602)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|skeletal muscle cell differentiation (GO:0035914)	extracellular vesicular exosome (GO:0070062)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			AGATCGCCGCCGCCGTGGGCT	0.682																																					p.A15A													.	BTG2-651	0			c.C45T						.						18.0	16.0	17.0					1																	203274779		2185	4271	6456	SO:0001819	synonymous_variant	7832	exon1			CGCCGCCGCCGTG		CCDS1437.1	1q32	2008-07-18			ENSG00000159388	ENSG00000159388			1131	protein-coding gene	gene with protein product	"""B-cell translocation gene 2"", ""pheochromacytoma cell-3"", ""NGF-inducible anti-proliferative protein PC3"", ""nerve growth factor-inducible anti-proliferative"""	601597				8944033	Standard	NM_006763		Approved	PC3, TIS21, MGC126063, MGC126064	uc001gzq.3	P78543	OTTHUMG00000035834	ENST00000290551.4:c.45C>T	1.37:g.203274779C>T		Somatic	8	0		WXS	Illumina HiSeq	Phase_I	12	3	NM_006763	0	0	78	151	73	A0A024R986|Q3KR25|Q5VUT0	Silent	SNP	ENST00000290551.4	37	CCDS1437.1																																																																																			.		0.682	BTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087168.1	NM_006763	
SIGIRR	59307	broad.mit.edu;bcgsc.ca	37	11	406878	406878	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr11:406878G>T	ENST00000431843.2	-	8	1150	c.844C>A	c.(844-846)Ctg>Atg	p.L282M	SIGIRR_ENST00000529486.1_5'Flank|SIGIRR_ENST00000382520.2_Missense_Mutation_p.L282M|SIGIRR_ENST00000332725.3_Missense_Mutation_p.L282M|SIGIRR_ENST00000397632.3_Missense_Mutation_p.L282M|SIGIRR_ENST00000531205.1_Missense_Mutation_p.L282M	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	282	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				acute-phase response (GO:0006953)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAGGTCACCAGGTGGCGGTGC	0.736																																					p.L282M													.	SIGIRR-90	0			c.C844A						.						5.0	7.0	7.0					11																	406878		2006	4048	6054	SO:0001583	missense	59307	exon8			TCACCAGGTGGCG		CCDS31325.1	11p15.5	2013-01-11	2005-10-10					"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30575	protein-coding gene	gene with protein product	"""single immunoglobulin domain IL1R1 related"""	605478				10346978	Standard	NM_021805		Approved	TIR8	uc001lpe.1	Q6IA17		ENST00000431843.2:c.844C>A	11.37:g.406878G>T	ENSP00000403104:p.Leu282Met	Somatic	21	0		WXS	Illumina HiSeq	Phase_I	11	5	NM_001135053	0	0	70	152	82	Q3KQY2|Q6UXI3|Q9H733	Missense_Mutation	SNP	ENST00000431843.2	37	CCDS31325.1	.	.	.	.	.	.	.	.	.	.	g	23.5	4.425513	0.83667	.	.	ENSG00000185187	ENST00000431843;ENST00000397632;ENST00000332725;ENST00000531205;ENST00000382520;ENST00000528209	T;T;T;T;T;T	0.23950	2.97;2.97;2.97;2.97;2.97;1.88	3.42	3.42	0.39159	Toll/interleukin-1 receptor homology (TIR) domain (3);	0.588123	0.16847	N	0.197084	T	0.23572	0.0570	N	0.17474	0.49	0.27755	N	0.944016	D;P	0.63046	0.992;0.927	P;P	0.57204	0.815;0.69	T	0.03483	-1.1032	10	0.33940	T	0.23	.	6.5078	0.22204	0.0:0.2504:0.451:0.2985	.	282;282	C9JFX4;Q6IA17	.;SIGIR_HUMAN	M	282;282;282;282;282;178	ENSP00000403104:L282M;ENSP00000380756:L282M;ENSP00000333656:L282M;ENSP00000433022:L282M;ENSP00000371960:L282M;ENSP00000435135:L178M	ENSP00000333656:L282M	L	-	1	2	SIGIRR	396878	0.015000	0.18098	1.000000	0.80357	0.983000	0.72400	0.396000	0.20867	1.638000	0.50547	0.484000	0.47621	CTG	.		0.736	SIGIRR-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383884.3	NM_021805	
MUC2	4583	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	1075662	1075662	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr11:1075662C>G	ENST00000441003.2	+	2	115	c.88C>G	c.(88-90)Cga>Gga	p.R30G	MUC2_ENST00000359061.5_Missense_Mutation_p.R30G	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	30					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GGGCAGAACCCGAAACCACGG	0.632																																					p.R30G		.											.	MUC2-90	0			c.C88G						.						30.0	35.0	33.0					11																	1075662		2128	4223	6351	SO:0001583	missense	4583	exon2			AGAACCCGAAACC	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.88C>G	11.37:g.1075662C>G	ENSP00000415183:p.Arg30Gly	Somatic	47	0		WXS	Illumina HiSeq	Phase_I	38	11	NM_002457	0	0	0	0	0	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	8.980	0.975205	0.18736	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.12672	2.69;2.66	3.78	2.81	0.32909	.	0.537890	0.13893	U	0.355461	T	0.10637	0.0260	L	0.27053	0.805	0.09310	N	1	P	0.40398	0.716	P	0.44477	0.451	T	0.15694	-1.0428	10	0.08837	T	0.75	.	8.7802	0.34787	0.1808:0.6671:0.1521:0.0	.	30	E7EUV1	.	G	30	ENSP00000415183:R30G;ENSP00000351956:R30G	ENSP00000351956:R30G	R	+	1	2	MUC2	1065662	0.009000	0.17119	0.001000	0.08648	0.150000	0.21749	2.439000	0.44846	0.525000	0.28522	0.491000	0.48974	CGA	.		0.632	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457	
MUC5B	727897	hgsc.bcm.edu	37	11	1268402	1268402	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr11:1268402G>A	ENST00000529681.1	+	31	10350	c.10292G>A	c.(10291-10293)aGc>aAc	p.S3431N	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.S3434N	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3431	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.S3410N(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		gccaccagcagcacAGTGACT	0.682																																					p.S3431N		.											.	.	1	Substitution - Missense(1)	prostate(1)	c.G10292A						.						41.0	76.0	64.0					11																	1268402		2093	4144	6237	SO:0001583	missense	727897	exon31			CCAGCAGCACAGT	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.10292G>A	11.37:g.1268402G>A	ENSP00000436812:p.Ser3431Asn	Somatic	16	2		WXS	Illumina HiSeq	Phase_I	19	4	NM_002458	0	0	0	0	0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	3.121	-0.180464	0.06380	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637	T;T	0.20598	2.06;2.24	2.38	-2.65	0.06095	.	.	.	.	.	T	0.11965	0.0291	L	0.29908	0.895	0.09310	N	1	B	0.11235	0.004	B	0.01281	0.0	T	0.31888	-0.9927	9	0.87932	D	0	.	2.2793	0.04110	0.1745:0.3567:0.3457:0.1231	.	3434	E9PBJ0	.	N	3431;3434;3403	ENSP00000436812:S3431N;ENSP00000415793:S3434N	ENSP00000343037:S3403N	S	+	2	0	MUC5B	1224978	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.426000	0.02443	-0.630000	0.05567	-0.714000	0.03626	AGC	.		0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
SLC5A12	159963	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	26725402	26725402	+	Silent	SNP	A	A	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr11:26725402A>G	ENST00000396005.3	-	5	927	c.618T>C	c.(616-618)caT>caC	p.H206H	SLC5A12_ENST00000280467.6_Silent_p.H206H	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	206					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						ATCCCCCAGCATGAGTTGATC	0.388																																					p.H206H		.											.	SLC5A12-92	0			c.T618C						.						233.0	218.0	223.0					11																	26725402		2203	4299	6502	SO:0001819	synonymous_variant	159963	exon5			CCCAGCATGAGTT	BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"""Solute carriers"""	28750	protein-coding gene	gene with protein product		612455	"""solute carrier family 5 (sodium/glucose cotransporter), member 12"""			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.618T>C	11.37:g.26725402A>G		Somatic	287	0		WXS	Illumina HiSeq	Phase_I	225	91	NM_178498	0	0	3	4	1	Q86UC7	Silent	SNP	ENST00000396005.3	37	CCDS7860.2																																																																																			.		0.388	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498	
TCP11L1	55346	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	33083137	33083137	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr11:33083137G>C	ENST00000334274.4	+	7	1237	c.837G>C	c.(835-837)aaG>aaC	p.K279N	TCP11L1_ENST00000531632.2_Missense_Mutation_p.K279N|TCP11L1_ENST00000432887.1_Missense_Mutation_p.K279N|TCP11L1_ENST00000324357.9_Missense_Mutation_p.K58N	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN	t-complex 11, testis-specific-like 1	279						microtubule (GO:0005874)				kidney(1)|liver(2)|lung(2)|skin(1)	6						TGACTCAGAAGTATAAACACG	0.527																																					p.K279N		.											.	TCP11L1-90	0			c.G837C						.						57.0	57.0	57.0					11																	33083137		2202	4298	6500	SO:0001583	missense	55346	exon7			TCAGAAGTATAAA	BC041696	CCDS7882.1	11p13	2014-08-12	2012-09-20		ENSG00000176148	ENSG00000176148			25655	protein-coding gene	gene with protein product			"""t-complex 11 (mouse) like 1"""				Standard	NM_001145541		Approved	FLJ11336	uc010rei.2	Q9NUJ3	OTTHUMG00000165303	ENST00000334274.4:c.837G>C	11.37:g.33083137G>C	ENSP00000335595:p.Lys279Asn	Somatic	59	0		WXS	Illumina HiSeq	Phase_I	55	22	NM_001145541	0	0	7	20	13	D3DR01|Q8IVX4	Missense_Mutation	SNP	ENST00000334274.4	37	CCDS7882.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.764820	0.31228	.	.	ENSG00000176148	ENST00000334274;ENST00000531632;ENST00000432887;ENST00000324357	T;T;T;T	0.11495	2.77;2.77;2.77;2.77	5.01	5.01	0.66863	.	0.702810	0.14718	N	0.302495	T	0.08582	0.0213	L	0.29908	0.895	0.09310	N	1	B	0.25007	0.116	B	0.22152	0.038	T	0.27331	-1.0077	10	0.21540	T	0.41	-10.0501	10.8411	0.46715	0.0965:0.0:0.9035:0.0	.	279	Q9NUJ3	T11L1_HUMAN	N	279;279;279;58	ENSP00000335595:K279N;ENSP00000433067:K279N;ENSP00000395070:K279N;ENSP00000316279:K58N	ENSP00000316279:K58N	K	+	3	2	TCP11L1	33039713	0.874000	0.30092	0.537000	0.28052	0.762000	0.43233	1.682000	0.37628	2.320000	0.78422	0.555000	0.69702	AAG	.		0.527	TCP11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383377.4	NM_018393	
NDUFS3	4722	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	47605943	47605943	+	Silent	SNP	G	G	A			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr11:47605943G>A	ENST00000263774.4	+	7	787	c.705G>A	c.(703-705)ctG>ctA	p.L235L	FAM180B_ENST00000538490.1_5'Flank|NDUFS3_ENST00000533507.1_3'UTR|FAM180B_ENST00000356737.2_5'Flank	NM_004551.2	NP_004542.1	O75489	NDUS3_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)	235					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9					Doxorubicin(DB00997)	AATTTGACCTGAACAGCCCCT	0.557																																					p.L235L	Pancreas(15;551 601 22438 23457 52512)	.											.	NDUFS3-90	0			c.G705A						.						137.0	141.0	140.0					11																	47605943		2201	4298	6499	SO:0001819	synonymous_variant	4722	exon7			TGACCTGAACAGC	AF067139	CCDS7941.1	11p11.11	2011-08-03	2002-08-29		ENSG00000213619	ENSG00000213619	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7710	protein-coding gene	gene with protein product	"""complex I 30kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial"""	603846	"""NADH dehydrogenase (ubiquinone) Fe-S protein 3 (30kD) (NADH-coenzyme Q reductase)"""			9763677	Standard	NM_004551		Approved	CI-30	uc001nga.2	O75489	OTTHUMG00000166893	ENST00000263774.4:c.705G>A	11.37:g.47605943G>A		Somatic	305	0		WXS	Illumina HiSeq	Phase_I	205	85	NM_004551	0	0	71	117	46	B2R9J1|B4DFM8|Q9UNQ8	Silent	SNP	ENST00000263774.4	37	CCDS7941.1																																																																																			.		0.557	NDUFS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391749.1	NM_004551	
CCDC67	159989	hgsc.bcm.edu	37	11	93122277	93122277	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr11:93122277A>G	ENST00000298050.3	+	9	1127	c.1027A>G	c.(1027-1029)Aaa>Gaa	p.K343E	CCDC67_ENST00000525646.1_Missense_Mutation_p.K85E	NM_181645.3	NP_857596.2	Q05D60	DEUP1_HUMAN	coiled-coil domain containing 67	343					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)	cytoplasm (GO:0005737)|deuterosome (GO:0098536)				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				AAATCATGAAAAAGAATTGAA	0.313																																					p.K343E		.											.	CCDC67-91	0			c.A1027G						.						39.0	36.0	37.0					11																	93122277		1813	4080	5893	SO:0001583	missense	159989	exon9			CATGAAAAAGAAT	AK058122	CCDS44707.1	11q21	2014-02-20				ENSG00000165325			26344	protein-coding gene	gene with protein product						24240477	Standard	NM_181645		Approved	FLJ25393	uc001pdq.3	Q05D60		ENST00000298050.3:c.1027A>G	11.37:g.93122277A>G	ENSP00000298050:p.Lys343Glu	Somatic	20	0		WXS	Illumina HiSeq	Phase_I	20	2	NM_181645	0	0	0	0	0	Q8NEF1|Q96LL7	Missense_Mutation	SNP	ENST00000298050.3	37	CCDS44707.1	.	.	.	.	.	.	.	.	.	.	A	13.37	2.217670	0.39201	.	.	ENSG00000165325	ENST00000534747;ENST00000298050;ENST00000525646	T;T;T	0.22336	1.96;1.96;1.96	5.8	5.8	0.92144	.	0.274240	0.36234	N	0.002711	T	0.14227	0.0344	L	0.48362	1.52	0.29128	N	0.87982	B;B;P	0.39181	0.347;0.183;0.663	B;B;B	0.33196	0.146;0.12;0.159	T	0.10200	-1.0640	10	0.07990	T	0.79	.	8.6983	0.34310	0.9155:0.0:0.0845:0.0	.	343;343;335	Q05D60;E9PJR5;Q6ZRU6	CCD67_HUMAN;.;.	E	343;343;85	ENSP00000432111:K343E;ENSP00000298050:K343E;ENSP00000435079:K85E	ENSP00000298050:K343E	K	+	1	0	CCDC67	92761925	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	2.183000	0.42565	2.219000	0.72066	0.533000	0.62120	AAA	.		0.313	CCDC67-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181645	
CNTN5	53942	hgsc.bcm.edu	37	11	99690467	99690467	+	Missense_Mutation	SNP	A	A	C	rs202073412		TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr11:99690467A>C	ENST00000524871.1	+	4	538	c.248A>C	c.(247-249)tAt>tCt	p.Y83S	CNTN5_ENST00000527185.1_Missense_Mutation_p.Y83S|CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000528682.1_Missense_Mutation_p.Y83S|CNTN5_ENST00000279463.3_Missense_Mutation_p.Y83S	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	83					cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ATCAATCTTTATCATTCCTCA	0.428																																					p.Y83S		.											.	CNTN5-366	0			c.A248C						.						48.0	47.0	47.0					11																	99690467		1873	4084	5957	SO:0001583	missense	53942	exon3			ATCTTTATCATTC	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.248A>C	11.37:g.99690467A>C	ENSP00000435637:p.Tyr83Ser	Somatic	26	0		WXS	Illumina HiSeq	Phase_I	19	5	NM_001243270	0	0	0	0	0	A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	A	15.84	2.952057	0.53293	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000279463	T;T;T;T	0.54675	0.56;0.64;0.64;0.64	5.06	5.06	0.68205	.	0.382752	0.24559	N	0.037483	T	0.58595	0.2133	N	0.19112	0.55	0.44061	D	0.996801	D;D	0.71674	0.998;0.998	D;D	0.76071	0.987;0.987	T	0.64145	-0.6476	10	0.72032	D	0.01	.	14.699	0.69142	1.0:0.0:0.0:0.0	.	83;83	E9PKE8;O94779	.;CNTN5_HUMAN	S	83	ENSP00000433575:Y83S;ENSP00000436185:Y83S;ENSP00000435637:Y83S;ENSP00000279463:Y83S	ENSP00000279463:Y83S	Y	+	2	0	CNTN5	99195677	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	6.120000	0.71596	2.208000	0.71279	0.528000	0.53228	TAT	.		0.428	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361	
ATP5L	10632	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	118272388	118272388	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr11:118272388A>G	ENST00000300688.3	+	1	520	c.8A>G	c.(7-9)cAa>cGa	p.Q3R	RP11-770J1.5_ENST00000531742.1_5'Flank|ATP5L_ENST00000524422.1_Missense_Mutation_p.Q3R|ATP5L_ENST00000529770.1_3'UTR|RP11-770J1.5_ENST00000534438.1_5'UTR	NM_006476.4	NP_006467.4	O75964	ATP5L_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G	3					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)|mitochondrion (GO:0005739)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)		ACCATGGCCCAATTTGTCCGT	0.667																																					p.Q3R		.											.	ATP5L-90	0			c.A8G						.						45.0	40.0	42.0					11																	118272388		2200	4296	6496	SO:0001583	missense	10632	exon1			TGGCCCAATTTGT	AF092124	CCDS8397.1	11q23.3	2012-10-12	2010-06-11		ENSG00000167283	ENSG00000167283		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	14247	protein-coding gene	gene with protein product			"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit g"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G"""			11230166, 11042152	Standard	NR_033759		Approved	ATP5JG	uc001psx.3	O75964		ENST00000300688.3:c.8A>G	11.37:g.118272388A>G	ENSP00000300688:p.Gln3Arg	Somatic	60	0		WXS	Illumina HiSeq	Phase_I	49	20	NM_006476	0	0	264	526	262	A8K0K3|Q96BV6|Q9UBZ7	Missense_Mutation	SNP	ENST00000300688.3	37	CCDS8397.1	.	.	.	.	.	.	.	.	.	.	A	15.60	2.880213	0.51801	.	.	ENSG00000167283	ENST00000300688;ENST00000524422	.	.	.	6.17	5.05	0.67936	.	0.166760	0.56097	D	0.000039	T	0.56804	0.2010	L	0.61387	1.9	0.39789	D	0.972403	B	0.06786	0.001	B	0.09377	0.004	T	0.54403	-0.8299	9	0.36615	T	0.2	-2.3772	9.3868	0.38347	0.9198:0.0:0.0802:0.0	.	3	O75964	ATP5L_HUMAN	R	3	.	ENSP00000300688:Q3R	Q	+	2	0	ATP5L	117777598	1.000000	0.71417	1.000000	0.80357	0.653000	0.38743	3.233000	0.51311	1.142000	0.42291	0.533000	0.62120	CAA	.		0.667	ATP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389220.1	NM_006476	
TMEM45B	120224	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	129724698	129724698	+	Silent	SNP	A	A	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr11:129724698A>G	ENST00000524567.1	+	3	653	c.372A>G	c.(370-372)gcA>gcG	p.A124A	TMEM45B_ENST00000281441.3_Silent_p.A124A			Q96B21	TM45B_HUMAN	transmembrane protein 45B	124						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		TGGCTGTGGCAGTATTCATGG	0.453																																					p.A124A		.											.	TMEM45B-90	0			c.A372G						.						138.0	125.0	129.0					11																	129724698		2201	4297	6498	SO:0001819	synonymous_variant	120224	exon3			TGTGGCAGTATTC	AK098106	CCDS8482.1	11q24.3	2008-02-05				ENSG00000151715			25194	protein-coding gene	gene with protein product						12477932	Standard	NM_138788		Approved	BC016153, FLJ40787	uc001qfe.1	Q96B21		ENST00000524567.1:c.372A>G	11.37:g.129724698A>G		Somatic	151	0		WXS	Illumina HiSeq	Phase_I	103	39	NM_138788	0	0	0	0	0	A8K2L8	Silent	SNP	ENST00000524567.1	37	CCDS8482.1																																																																																			.		0.453	TMEM45B-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386062.1	NM_138788	
IFFO1	25900	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	6649694	6649694	+	Silent	SNP	A	A	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr12:6649694A>G	ENST00000396840.2	-	9	1676	c.1635T>C	c.(1633-1635)gcT>gcC	p.A545A	IFFO1_ENST00000336604.4_Silent_p.A548A|RP5-940J5.8_ENST00000499202.2_RNA|IFFO1_ENST00000356896.4_Silent_p.A549A|IFFO1_ENST00000436152.2_Silent_p.A242A|RP5-940J5.9_ENST00000602946.1_RNA|IFFO1_ENST00000465801.1_Silent_p.A241A			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	545						intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						CGGAGTCCTCAGCCTCGCTTG	0.617																																					p.A557A		.											.	IFFO1-68	0			c.T1671C						.						53.0	54.0	54.0					12																	6649694		2203	4300	6503	SO:0001819	synonymous_variant	25900	exon10			GTCCTCAGCCTCG	AF124432	CCDS8550.1, CCDS41741.1, CCDS8550.2, CCDS73425.1	12p13.31	2013-01-16	2008-09-11	2008-09-11	ENSG00000010295	ENSG00000010295		"""Intermediate filament family orphans"""	24970	protein-coding gene	gene with protein product		610495	"""intermediate filament family orphan"""	IFFO		8771189, 3052284	Standard	NM_001193457		Approved	HOM-TES-103	uc010sfe.2	Q0D2I5	OTTHUMG00000141264	ENST00000396840.2:c.1635T>C	12.37:g.6649694A>G		Somatic	137	0		WXS	Illumina HiSeq	Phase_I	89	83	NM_001193457	0	0	2	8	6	Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	Silent	SNP	ENST00000396840.2	37		.	.	.	.	.	.	.	.	.	.	A	12.53	1.964511	0.34659	.	.	ENSG00000010295	ENST00000416019;ENST00000423501	.	.	.	4.84	1.14	0.20703	.	.	.	.	.	T	0.30727	0.0774	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.07966	-1.0745	6	.	.	.	0.8566	4.8721	0.13639	0.4992:0.2689:0.2318:0.0	.	240	Q6P593	.	P	279;185	.	.	L	-	2	0	IFFO1	6519955	0.938000	0.31826	1.000000	0.80357	0.982000	0.71751	-0.065000	0.11617	0.887000	0.36136	0.459000	0.35465	CTG	.		0.617	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000280428.1	NM_080730	
ARID2	196528	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	46285793	46285793	+	Splice_Site	SNP	G	G	A			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr12:46285793G>A	ENST00000334344.6	+	18	5233		c.e18-1		ARID2_ENST00000422737.1_Splice_Site|ARID2_ENST00000457135.1_Splice_Site|ARID2_ENST00000479608.1_Splice_Site|ARID2_ENST00000444670.1_Splice_Site	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)						chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TCCTCAAAAAGGATAAGCACT	0.388			"""N, S, F"""		hepatocellular carcinoma																																.		.		Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	.	ARID2-100	0			c.5062-1G>A						.						117.0	109.0	112.0					12																	46285793		2203	4300	6503	SO:0001630	splice_region_variant	196528	exon18			CAAAAAGGATAAG		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.5062-1G>A	12.37:g.46285793G>A		Somatic	64	0		WXS	Illumina HiSeq	Phase_I	59	54	NM_152641	0	0	0	0	0	Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Splice_Site	SNP	ENST00000334344.6	37	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.730640	0.48939	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670;ENST00000457135	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6022	0.91253	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARID2	44572060	1.000000	0.71417	1.000000	0.80357	0.654000	0.38779	9.070000	0.93974	2.690000	0.91761	0.655000	0.94253	.	.		0.388	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875	Intron
ESPL1	9700	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	53685605	53685605	+	Silent	SNP	A	A	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr12:53685605A>G	ENST00000257934.4	+	26	5743	c.5652A>G	c.(5650-5652)acA>acG	p.T1884T	ESPL1_ENST00000552462.1_Silent_p.T1884T	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1884					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						AGGGCCTGACAGTACCAAGCA	0.587																																					p.T1884T	Colon(53;1069 1201 2587 5382)	.											.	ESPL1-228	0			c.A5652G						.						130.0	115.0	120.0					12																	53685605		2203	4300	6503	SO:0001819	synonymous_variant	9700	exon26			CCTGACAGTACCA	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.5652A>G	12.37:g.53685605A>G		Somatic	189	0		WXS	Illumina HiSeq	Phase_I	140	126	NM_012291	0	0	0	8	8		Silent	SNP	ENST00000257934.4	37	CCDS8852.1																																																																																			.		0.587	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291	
LHX5	64211	hgsc.bcm.edu	37	12	113909129	113909129	+	Splice_Site	SNP	A	A	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr12:113909129A>G	ENST00000261731.3	-	1	747		c.e1+1		RP11-82C23.2_ENST00000551357.2_RNA|LHX5_ENST00000557836.1_5'Flank	NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN	LIM homeobox 5						cell proliferation in forebrain (GO:0021846)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|forebrain neuron differentiation (GO:0021879)|hippocampus development (GO:0021766)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						GCGGCCTCTTACCTGAAAAAG	0.627																																					.		.											.	LHX5-90	0			c.173+2T>C						.						33.0	32.0	32.0					12																	113909129		2203	4300	6503	SO:0001630	splice_region_variant	64211	exon2			CCTCTTACCTGAA	AF291181	CCDS9171.1	12q24.13	2014-01-15			ENSG00000089116	ENSG00000089116		"""Homeoboxes / LIM class"""	14216	protein-coding gene	gene with protein product		605992					Standard	NM_022363		Approved		uc001tvj.1	Q9H2C1	OTTHUMG00000169552	ENST00000261731.3:c.173+1T>C	12.37:g.113909129A>G		Somatic	67	0		WXS	Illumina HiSeq	Phase_I	26	2	NM_022363	0	0	0	0	0	Q32MA4	Splice_Site	SNP	ENST00000261731.3	37	CCDS9171.1	.	.	.	.	.	.	.	.	.	.	A	16.24	3.067179	0.55539	.	.	ENSG00000089116	ENST00000261731	.	.	.	4.03	2.86	0.33363	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.7917	0.40710	0.846:0.0:0.0:0.154	.	.	.	.	.	-1	.	.	.	-	.	.	LHX5	112393512	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.139000	0.94554	0.585000	0.29608	-0.516000	0.04426	.	.		0.627	LHX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404788.3	NM_022363	Intron
ALG5	29880	broad.mit.edu	37	13	37539814	37539814	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr13:37539814C>T	ENST00000239891.3	-	8	737	c.671G>A	c.(670-672)tGg>tAg	p.W224*	ALG5_ENST00000413537.2_3'UTR|ALG5_ENST00000443765.1_Nonsense_Mutation_p.W194*	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase	224					cellular protein metabolic process (GO:0044267)|determination of left/right symmetry (GO:0007368)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dolichyl-phosphate beta-glucosyltransferase activity (GO:0004581)|oligosaccharyl transferase activity (GO:0004576)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		ACAAAGGAACCACACCAGAAA	0.408																																					p.W224X													.	ALG5-90	0			c.G671A						.						109.0	106.0	107.0					13																	37539814		2203	4300	6503	SO:0001587	stop_gained	29880	exon8			AGGAACCACACCA	AF088028	CCDS9361.1, CCDS45033.1	13q13.1	2013-02-22	2013-02-21		ENSG00000120697	ENSG00000120697	2.4.1.117	"""Glycosyltransferase family 2 domain containing"""	20266	protein-coding gene	gene with protein product		604565	"""asparagine-linked glycosylation 5 homolog (yeast, dolichyl-phosphate beta-glucosyltransferase)"", ""asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog (S. cerevisiae)"""			10359825	Standard	NM_013338		Approved	bA421P11.2	uc001uvy.3	Q9Y673	OTTHUMG00000016741	ENST00000239891.3:c.671G>A	13.37:g.37539814C>T	ENSP00000239891:p.Trp224*	Somatic	111	0		WXS	Illumina HiSeq	Phase_I	83	4	NM_013338	0	0	63	63	0	B4DR37|Q5TBA6	Nonsense_Mutation	SNP	ENST00000239891.3	37	CCDS9361.1	.	.	.	.	.	.	.	.	.	.	C	37	6.551986	0.97658	.	.	ENSG00000120697	ENST00000443765;ENST00000239891	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	20.093	0.97828	0.0:1.0:0.0:0.0	.	.	.	.	X	194;224	.	ENSP00000239891:W224X	W	-	2	0	ALG5	36437814	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.794000	0.85869	2.756000	0.94617	0.561000	0.74099	TGG	.		0.408	ALG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044528.2	NM_013338	
RAB2B	84932	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	21931921	21931921	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr14:21931921A>G	ENST00000397762.1	-	6	468	c.368T>C	c.(367-369)cTa>cCa	p.L123P	RAB2B_ENST00000461909.1_5'UTR	NM_001163380.1|NM_032846.3	NP_001156852.1|NP_116235.2	Q8WUD1	RAB2B_HUMAN	RAB2B, member RAS oncogene family	123					positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6	all_cancers(95;0.000858)		Epithelial(56;1.53e-06)|all cancers(55;1.44e-05)	GBM - Glioblastoma multiforme(265;0.00391)		GCGGGACTCTAGGTCACTGCA	0.408																																					p.L123P	Melanoma(131;1007 1750 28652 34486 42672)	.											.	RAB2B-228	0			c.T368C						.						86.0	80.0	82.0					14																	21931921		2203	4300	6503	SO:0001583	missense	84932	exon6			GACTCTAGGTCAC	AK027730	CCDS9570.1	14q11.1	2006-12-18			ENSG00000129472	ENSG00000129472		"""RAB, member RAS oncogene"""	20246	protein-coding gene	gene with protein product		607466				12376746	Standard	NM_032846		Approved	FLJ14824	uc010tlt.2	Q8WUD1	OTTHUMG00000029693	ENST00000397762.1:c.368T>C	14.37:g.21931921A>G	ENSP00000380869:p.Leu123Pro	Somatic	113	0		WXS	Illumina HiSeq	Phase_I	85	37	NM_032846	0	0	0	0	0	B2RD03|D3DS24|Q6NZ33	Missense_Mutation	SNP	ENST00000397762.1	37	CCDS9570.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.416717	0.83449	.	.	ENSG00000129472	ENST00000397762;ENST00000304034	D	0.85013	-1.93	5.62	5.62	0.85841	Small GTP-binding protein domain (1);	0.000000	0.52532	D	0.000080	D	0.96137	0.8741	H	0.99712	4.72	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.99;0.998	D	0.97978	1.0347	10	0.87932	D	0	.	14.8111	0.69996	1.0:0.0:0.0:0.0	.	123;77;58	Q8WUD1;B4DUD4;Q6NZ33	RAB2B_HUMAN;.;.	P	123	ENSP00000380869:L123P	ENSP00000302005:L123P	L	-	2	0	RAB2B	21001761	1.000000	0.71417	0.984000	0.44739	0.958000	0.62258	6.854000	0.75440	2.145000	0.66743	0.533000	0.62120	CTA	.		0.408	RAB2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074053.4		
PCK2	5106	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	24568928	24568928	+	Splice_Site	SNP	A	A	C			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr14:24568928A>C	ENST00000216780.4	+	6	1282	c.1014A>C	c.(1012-1014)gaA>gaC	p.E338D	PCK2_ENST00000559250.1_Splice_Site_p.E350D|PCK2_ENST00000396973.4_Splice_Site_p.E338D|PCK2_ENST00000545054.2_Splice_Site_p.E204D|NRL_ENST00000561028.1_Intron|PCK2_ENST00000561286.1_Splice_Site_p.E204D|PCK2_ENST00000558096.1_Splice_Site_p.E204D	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	338					carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		TTGACAGTGAAGGTGAGGGAC	0.517																																					p.E338D		.											.	PCK2-227	0			c.A1014C						.						209.0	179.0	189.0					14																	24568928		2203	4300	6503	SO:0001630	splice_region_variant	5106	exon6			CAGTGAAGGTGAG	AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	4.1.1.32		8725	protein-coding gene	gene with protein product		614095				8645161, 9657976	Standard	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000216780.4:c.1015+1A>C	14.37:g.24568928A>C		Somatic	183	0		WXS	Illumina HiSeq	Phase_I	118	29	NM_001018073	0	0	0	1	1	O43253|Q86U01|Q9BV62	Missense_Mutation	SNP	ENST00000216780.4	37	CCDS9609.1	.	.	.	.	.	.	.	.	.	.	A	8.481	0.859731	0.17178	.	.	ENSG00000100889	ENST00000216780;ENST00000396973;ENST00000545054	T;T;T	0.06849	3.25;3.25;3.25	5.5	-8.34	0.00988	Phosphoenolpyruvate carboxykinase, C-terminal (1);	0.280145	0.45606	N	0.000341	T	0.01695	0.0054	N	0.02120	-0.675	0.43088	D	0.99475	B;B;B;B	0.09022	0.001;0.0;0.002;0.0	B;B;B;B	0.15052	0.012;0.012;0.007;0.006	T	0.43245	-0.9403	10	0.02654	T	1	-4.464	9.0824	0.36561	0.2559:0.5071:0.0:0.237	.	204;338;338;338	B4DW73;Q16822;Q16822-2;Q6IB91	.;PCKGM_HUMAN;.;.	D	338;338;204	ENSP00000216780:E338D;ENSP00000380171:E338D;ENSP00000441826:E204D	ENSP00000216780:E338D	E	+	3	2	PCK2	23638768	0.996000	0.38824	0.953000	0.39169	0.948000	0.59901	0.536000	0.23129	-0.926000	0.03770	0.459000	0.35465	GAA	.		0.517	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071900.3	NM_001018073	Missense_Mutation
C14orf183	196913	hgsc.bcm.edu	37	14	50550535	50550535	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr14:50550535C>G	ENST00000305273.1	-	5	808	c.809G>C	c.(808-810)tGg>tCg	p.W270S	RP11-58E21.5_ENST00000603228.1_lincRNA|RP11-58E21.7_ENST00000556019.2_lincRNA	NM_001014830.1	NP_001014830.1	Q8WXQ3	CN183_HUMAN	chromosome 14 open reading frame 183	270										endometrium(2)|large_intestine(2)|lung(3)	7						GGGCGGCACCCACCAGGCATG	0.657																																					p.W270S		.											.	C14orf183-90	0			c.G809C						.						33.0	39.0	37.0					14																	50550535		2019	4173	6192	SO:0001583	missense	196913	exon5			GGCACCCACCAGG	AF390030	CCDS45101.1	14q21.3	2012-09-26			ENSG00000168260	ENSG00000168260			27285	protein-coding gene	gene with protein product							Standard	NM_001014830		Approved		uc010tqk.2	Q8WXQ3	OTTHUMG00000170858	ENST00000305273.1:c.809G>C	14.37:g.50550535C>G	ENSP00000303234:p.Trp270Ser	Somatic	70	0		WXS	Illumina HiSeq	Phase_I	45	3	NM_001014830	0	0	0	0	0		Missense_Mutation	SNP	ENST00000305273.1	37	CCDS45101.1	.	.	.	.	.	.	.	.	.	.	C	8.551	0.875519	0.17395	.	.	ENSG00000168260	ENST00000305273	.	.	.	3.82	1.99	0.26369	.	.	.	.	.	T	0.31544	0.0800	N	0.08118	0	0.09310	N	1	D	0.65815	0.995	P	0.61003	0.882	T	0.10730	-1.0617	8	0.87932	D	0	.	6.3715	0.21483	0.0:0.7729:0.0:0.2271	.	270	Q8WXQ3	CN183_HUMAN	S	270	.	ENSP00000303234:W270S	W	-	2	0	C14orf183	49620285	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.002000	0.03686	0.588000	0.29660	0.460000	0.39030	TGG	.		0.657	C14orf183-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000410705.1	NM_001014830	
NID2	22795	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	52494036	52494036	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr14:52494036C>T	ENST00000216286.5	-	12	2556	c.2557G>A	c.(2557-2559)Gag>Aag	p.E853K	NID2_ENST00000541773.1_Intron	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	853	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CTGCCATCCTCACAGGGGTTG	0.572																																					p.E853K		.											.	NID2-158	0			c.G2557A						.						37.0	36.0	36.0					14																	52494036		2203	4300	6503	SO:0001583	missense	22795	exon12			CATCCTCACAGGG	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.2557G>A	14.37:g.52494036C>T	ENSP00000216286:p.Glu853Lys	Somatic	55	0		WXS	Illumina HiSeq	Phase_I	37	15	NM_007361	0	0	8	12	4	A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.692957	0.48202	.	.	ENSG00000087303	ENST00000216286;ENST00000316204;ENST00000395707	D	0.87334	-2.24	5.76	4.86	0.63082	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.479683	0.23171	N	0.051140	T	0.81894	0.4919	L	0.42008	1.315	0.80722	D	1	B;P;B	0.35411	0.04;0.5;0.417	B;B;B	0.35278	0.017;0.09;0.199	T	0.77705	-0.2488	10	0.11182	T	0.66	.	15.3665	0.74526	0.0:0.8547:0.1453:0.0	.	447;855;853	E7EPP3;Q5CZI2;Q14112	.;.;NID2_HUMAN	K	853;447;855	ENSP00000216286:E853K	ENSP00000216286:E853K	E	-	1	0	NID2	51563786	0.975000	0.34042	0.998000	0.56505	0.694000	0.40290	1.623000	0.37008	1.397000	0.46682	0.563000	0.77884	GAG	.		0.572	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1		
PPM1A	5494	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	60750192	60750192	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr14:60750192A>T	ENST00000395076.4	+	2	1201	c.771A>T	c.(769-771)agA>agT	p.R257S	PPM1A_ENST00000325642.3_Missense_Mutation_p.R330S|PPM1A_ENST00000325658.3_Missense_Mutation_p.R257S|PPM1A_ENST00000529574.1_Missense_Mutation_p.R257S	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1A	257					cell cycle arrest (GO:0007050)|dephosphorylation (GO:0016311)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|N-terminal protein myristoylation (GO:0006499)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|protein dephosphorylation (GO:0006470)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|voltage-gated calcium channel complex (GO:0005891)	calmodulin-dependent protein phosphatase activity (GO:0033192)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)|R-SMAD binding (GO:0070412)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		TAAGATCCAGACTTGAAGTCA	0.348																																					p.R330S		.											.	PPM1A-227	0			c.A990T						.						153.0	150.0	151.0					14																	60750192		2203	4300	6503	SO:0001583	missense	5494	exon2			ATCCAGACTTGAA	S87759	CCDS9744.1, CCDS9745.1, CCDS45120.1	14q23.1	2013-01-24	2010-03-05		ENSG00000100614	ENSG00000100614	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9275	protein-coding gene	gene with protein product	"""phosphatase 2C alpha"", ""protein phosphatase 2C, alpha isoform"""	606108	"""protein phosphatase 1A (formerly 2C), magnesium-dependent, alpha isoform"""			1311954	Standard	NM_177952		Approved	MGC9201, PP2Calpha, PP2CA	uc001xew.4	P35813	OTTHUMG00000140333	ENST00000395076.4:c.771A>T	14.37:g.60750192A>T	ENSP00000378514:p.Arg257Ser	Somatic	329	1		WXS	Illumina HiSeq	Phase_I	232	94	NM_177952	0	1	33	74	40	B5BU11|J3KNM0|O75551	Missense_Mutation	SNP	ENST00000395076.4	37	CCDS9744.1	.	.	.	.	.	.	.	.	.	.	A	17.45	3.391550	0.62066	.	.	ENSG00000100614	ENST00000325642;ENST00000529574;ENST00000395076;ENST00000325658	T;T;T;T	0.17213	2.29;2.29;2.29;2.29	5.69	0.8	0.18672	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.37732	0.1014	M	0.80982	2.52	0.80722	D	1	D;D;D	0.71674	0.985;0.998;0.985	D;D;D	0.70716	0.909;0.97;0.909	T	0.14090	-1.0485	10	0.66056	D	0.02	-4.9401	9.4876	0.38940	0.6003:0.0:0.3997:0.0	.	257;257;257	P35813;P35813-2;B2R8E4	PPM1A_HUMAN;.;.	S	330;257;257;257	ENSP00000327255:R330S;ENSP00000432966:R257S;ENSP00000378514:R257S;ENSP00000314850:R257S	ENSP00000327255:R330S	R	+	3	2	PPM1A	59819945	0.994000	0.37717	1.000000	0.80357	0.997000	0.91878	0.406000	0.21032	0.109000	0.17891	0.477000	0.44152	AGA	.		0.348	PPM1A-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276949.2	NM_021003	
EML5	161436	hgsc.bcm.edu	37	14	89178771	89178771	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr14:89178771T>C	ENST00000380664.5	-	10	1500	c.1501A>G	c.(1501-1503)Aca>Gca	p.T501A	EML5_ENST00000554922.1_Missense_Mutation_p.T501A|EML5_ENST00000352093.5_Missense_Mutation_p.T501A			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	501						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GAAACACATGTCCATGAAGCC	0.323																																					p.T501A		.											.	EML5-93	0			c.A1501G						.						70.0	66.0	67.0					14																	89178771		1828	4088	5916	SO:0001583	missense	161436	exon10			CACATGTCCATGA	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.1501A>G	14.37:g.89178771T>C	ENSP00000370039:p.Thr501Ala	Somatic	64	0		WXS	Illumina HiSeq	Phase_I	37	2	NM_183387	0	0	1	1	0	B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	ENST00000380664.5	37	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.561037	0.86335	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.58506	0.55;0.33;0.59	4.7	4.7	0.59300	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.73418	0.3584	H	0.94264	3.515	0.53005	D	0.999961	P	0.45768	0.866	P	0.46585	0.521	T	0.82368	-0.0492	10	0.72032	D	0.01	-17.053	14.3397	0.66617	0.0:0.0:0.0:1.0	.	501	Q05BV3	EMAL5_HUMAN	A	501	ENSP00000451998:T501A;ENSP00000298315:T501A;ENSP00000370039:T501A	ENSP00000298315:T501A	T	-	1	0	EML5	88248524	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.525000	0.81892	1.954000	0.56735	0.528000	0.53228	ACA	.		0.323	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1		
UBR1	197131	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	43299483	43299483	+	Splice_Site	SNP	C	C	A			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr15:43299483C>A	ENST00000290650.4	-	30	3288		c.e30-1		UBR1_ENST00000568782.1_Splice_Site|UBR1_ENST00000382177.2_Splice_Site	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1						cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TGCTGGGGTGCTACCAAAAGA	0.403																																					.		.											.	UBR1-91	0			c.3210-1G>T						.						48.0	44.0	45.0					15																	43299483		2203	4299	6502	SO:0001630	splice_region_variant	197131	exon31			GGGGTGCTACCAA		CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.3210-1G>T	15.37:g.43299483C>A		Somatic	41	0		WXS	Illumina HiSeq	Phase_I	19	8	NM_174916	0	0	0	0	0	O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Splice_Site	SNP	ENST00000290650.4	37	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550046	0.65311	.	.	ENSG00000159459	ENST00000290650	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1988	0.89831	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	UBR1	41086775	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.935000	0.56560	2.534000	0.85438	0.655000	0.94253	.	.		0.403	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916	Intron
PARP6	56965	broad.mit.edu;bcgsc.ca	37	15	72556908	72556908	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr15:72556908A>G	ENST00000569795.1	-	8	1070	c.383T>C	c.(382-384)cTt>cCt	p.L128P	PARP6_ENST00000287196.9_Missense_Mutation_p.L128P|PARP6_ENST00000260376.7_Missense_Mutation_p.L128P|PARP6_ENST00000413097.2_5'UTR			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	128							NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						TTTCAACTGAAGACCCAGCCC	0.428																																					p.L128P													.	PARP6-522	0			c.T383C						.						122.0	115.0	117.0					15																	72556908		1851	4081	5932	SO:0001583	missense	56965	exon7			AACTGAAGACCCA	AL390093	CCDS10241.2	15q22	2010-02-16			ENSG00000137817	ENSG00000137817		"""Poly (ADP-ribose) polymerases"""	26921	protein-coding gene	gene with protein product						15273990	Standard	XM_005254557		Approved	pART17	uc002auc.3	Q2NL67	OTTHUMG00000133443	ENST00000569795.1:c.383T>C	15.37:g.72556908A>G	ENSP00000456348:p.Leu128Pro	Somatic	119	0		WXS	Illumina HiSeq	Phase_I	109	5	NM_020214	0	0	0	0	0	Q9H7C5|Q9H9X6|Q9HAF3|Q9NPS6|Q9UFG4	Missense_Mutation	SNP	ENST00000569795.1	37	CCDS10241.2	.	.	.	.	.	.	.	.	.	.	A	22.2	4.259245	0.80246	.	.	ENSG00000137817	ENST00000419739;ENST00000287196;ENST00000260376;ENST00000336471	.	.	.	5.5	5.5	0.81552	.	0.061156	0.64402	D	0.000002	T	0.40272	0.1110	N	0.14661	0.345	0.80722	D	1	P;P	0.47409	0.694;0.895	B;B	0.44278	0.346;0.445	T	0.30416	-0.9979	9	0.32370	T	0.25	-0.6581	14.7832	0.69781	1.0:0.0:0.0:0.0	.	128;128	Q0VDG0;Q2NL67	.;PARP6_HUMAN	P	128	.	ENSP00000260376:L128P	L	-	2	0	PARP6	70343962	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.265000	0.95647	2.087000	0.62958	0.460000	0.39030	CTT	.		0.428	PARP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257315.2	NM_020214	
IDH2	3418	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	90634783	90634783	+	Splice_Site	SNP	A	A	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr15:90634783A>G	ENST00000330062.3	-	2	321		c.e2+1		IDH2_ENST00000539790.1_Intron|IDH2_ENST00000540499.2_Splice_Site|IDH2_ENST00000559482.1_Splice_Site	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial						2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			AGGGGGCACTACCTTCTCCTT	0.577			M		GBM																																.		.		Dom	yes		15	15q26.1	3418	"""socitrate dehydrogenase 2 (NADP+), mitochondrial """		M	.	IDH2-15118	0			c.207+2T>C						.						169.0	135.0	146.0					15																	90634783		2200	4298	6498	SO:0001630	splice_region_variant	3418	exon3			GGCACTACCTTCT		CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.207+1T>C	15.37:g.90634783A>G		Somatic	127	0		WXS	Illumina HiSeq	Phase_I	95	12	NM_002168	0	0	0	7	7	B2R6L6|B4DFL2|Q96GT3	Splice_Site	SNP	ENST00000330062.3	37	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	A	16.24	3.066137	0.55539	.	.	ENSG00000182054	ENST00000330062;ENST00000540499	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0239	0.58804	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IDH2	88435787	1.000000	0.71417	0.925000	0.36789	0.501000	0.33797	9.290000	0.96065	1.965000	0.57142	0.459000	0.35465	.	.		0.577	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1		Intron
RAB40C	57799	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	677608	677608	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr16:677608T>C	ENST00000248139.3	+	6	1035	c.832T>C	c.(832-834)Tgc>Cgc	p.C278R	RAB40C_ENST00000539661.1_Missense_Mutation_p.C278R|RAB40C_ENST00000535977.1_Missense_Mutation_p.C278R|RAB40C_ENST00000538492.1_Missense_Mutation_p.C278R	NM_021168.4	NP_066991.3	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	278					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				GCGGAGTAACTGCAAGATCTC	0.697																																					p.C278R	Melanoma(123;1631 1690 28262 44104 44957)	.											.	RAB40C-227	0			c.T832C						.						47.0	51.0	49.0					16																	677608		2201	4300	6501	SO:0001583	missense	57799	exon6			AGTAACTGCAAGA	Z84779	CCDS10413.1	16p13.3	2008-07-28	2003-10-14		ENSG00000197562	ENSG00000197562		"""RAB, member RAS oncogene"""	18285	protein-coding gene	gene with protein product			"""RAS-like, family 8, member C"""	RASL8C		11697911, 18485483	Standard	NM_021168		Approved	RARL	uc021szv.1	Q96S21	OTTHUMG00000047854	ENST00000248139.3:c.832T>C	16.37:g.677608T>C	ENSP00000248139:p.Cys278Arg	Somatic	111	0		WXS	Illumina HiSeq	Phase_I	104	59	NM_021168	0	0	14	35	21	A2IDE2|D3DU54|O60795|Q4TT41|Q5PXE8|Q6PIU5	Missense_Mutation	SNP	ENST00000248139.3	37	CCDS10413.1	.	.	.	.	.	.	.	.	.	.	T	19.77	3.889349	0.72524	.	.	ENSG00000197562	ENST00000535977;ENST00000539661;ENST00000538492;ENST00000248139	T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.81725	0.4883	L	0.47190	1.495	0.80722	D	1	D;D	0.89917	1.0;0.995	D;P	0.87578	0.998;0.814	D	0.83701	0.0182	10	0.87932	D	0	.	13.6194	0.62128	0.0:0.0:0.0:1.0	.	278;259	Q96S21;Q5PXE8	RB40C_HUMAN;.	R	278	ENSP00000438492:C278R;ENSP00000445050:C278R;ENSP00000438382:C278R;ENSP00000248139:C278R	ENSP00000248139:C278R	C	+	1	0	RAB40C	617609	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.918000	0.87506	1.808000	0.52836	0.459000	0.35465	TGC	.		0.697	RAB40C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109079.4	NM_021168	
HS3ST2	9956	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	16	22926750	22926750	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr16:22926750G>A	ENST00000261374.3	+	2	1405	c.971G>A	c.(970-972)cGa>cAa	p.R324Q		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	324					carbohydrate metabolic process (GO:0005975)|circadian rhythm (GO:0007623)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity (GO:0033871)|sulfotransferase activity (GO:0008146)			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		CTCCTGCCTCGATGCTTGGGC	0.403																																					p.R324Q		.											.	HS3ST2-516	0			c.G971A						.						135.0	148.0	143.0					16																	22926750		2197	4300	6497	SO:0001583	missense	9956	exon2			TGCCTCGATGCTT	AF105374	CCDS10606.1	16p12	2008-02-05			ENSG00000122254	ENSG00000122254	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5195	protein-coding gene	gene with protein product		604056				9988767	Standard	NM_006043		Approved	3OST2	uc002dli.3	Q9Y278	OTTHUMG00000094785	ENST00000261374.3:c.971G>A	16.37:g.22926750G>A	ENSP00000261374:p.Arg324Gln	Somatic	264	0		WXS	Illumina HiSeq	Phase_I	328	17	NM_006043	0	0	2	2	0	Q52LZ1	Missense_Mutation	SNP	ENST00000261374.3	37	CCDS10606.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382090	0.82792	.	.	ENSG00000122254	ENST00000261374	D	0.83755	-1.76	5.11	5.11	0.69529	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.89860	0.6837	M	0.79805	2.47	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.89491	0.3757	10	0.44086	T	0.13	.	11.0723	0.48010	0.0843:0.0:0.9157:0.0	.	324	Q9Y278	HS3S2_HUMAN	Q	324	ENSP00000261374:R324Q	ENSP00000261374:R324Q	R	+	2	0	HS3ST2	22834251	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.872000	0.75536	2.375000	0.81037	0.561000	0.74099	CGA	.		0.403	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211598.1	NM_006043	
PRSS8	5652	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	31144179	31144179	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr16:31144179A>G	ENST00000317508.6	-	4	625	c.362T>C	c.(361-363)aTc>aCc	p.I121T	PRSS8_ENST00000568261.1_Missense_Mutation_p.I67T|RP11-388M20.2_ENST00000563605.1_RNA	NM_002773.3	NP_002764.1	Q16651	PRSS8_HUMAN	protease, serine, 8	121	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				positive regulation of sodium ion transport (GO:0010765)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	8						GGGGTGGGGGATGATGTCCTT	0.622																																					p.I121T		.											.	.	0			c.T362C						.						127.0	144.0	138.0					16																	31144179		2166	4255	6421	SO:0001583	missense	5652	exon4			TGGGGGATGATGT	U33446	CCDS45469.1	16p11.2	2010-05-07	2007-02-21			ENSG00000052344		"""Serine peptidases / Serine peptidases"""	9491	protein-coding gene	gene with protein product	"""prostasin"""	600823				8838796, 7768952	Standard	NM_002773		Approved		uc002ebc.4	Q16651		ENST00000317508.6:c.362T>C	16.37:g.31144179A>G	ENSP00000319730:p.Ile121Thr	Somatic	248	1		WXS	Illumina HiSeq	Phase_I	344	94	NM_002773	0	0	10	12	2	B4DWP2|Q9UCA3	Missense_Mutation	SNP	ENST00000317508.6	37	CCDS45469.1	.	.	.	.	.	.	.	.	.	.	A	11.60	1.686219	0.29962	.	.	ENSG00000052344	ENST00000317508	D	0.90069	-2.61	5.45	4.29	0.51040	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.334685	0.25897	N	0.027586	D	0.83473	0.5262	L	0.49350	1.555	0.09310	N	1	B;B	0.27416	0.178;0.178	B;B	0.28638	0.092;0.056	T	0.75127	-0.3427	10	0.56958	D	0.05	.	5.2809	0.15674	0.7586:0.0:0.0836:0.1578	.	67;121	B4DWP2;Q16651	.;PRSS8_HUMAN	T	121	ENSP00000319730:I121T	ENSP00000319730:I121T	I	-	2	0	PRSS8	31051680	0.998000	0.40836	0.255000	0.24374	0.002000	0.02628	2.349000	0.44054	2.066000	0.61787	0.459000	0.35465	ATC	.		0.622	PRSS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433536.1	NM_002773	
ABCC11	85320	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	48249161	48249161	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr16:48249161A>G	ENST00000394747.1	-	7	1395	c.1046T>C	c.(1045-1047)aTt>aCt	p.I349T	ABCC11_ENST00000353782.5_Missense_Mutation_p.I349T|ABCC11_ENST00000356608.2_Missense_Mutation_p.I349T|ABCC11_ENST00000394748.1_Missense_Mutation_p.I349T|ABCC11_ENST00000537808.1_Missense_Mutation_p.I349T	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	349	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	AATCAGCTTAATGCAAGTGAG	0.453																																					p.I349T		.											.	ABCC11-95	0			c.T1046C						.						148.0	144.0	145.0					16																	48249161		2201	4300	6501	SO:0001583	missense	85320	exon7			AGCTTAATGCAAG	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.1046T>C	16.37:g.48249161A>G	ENSP00000378230:p.Ile349Thr	Somatic	136	0		WXS	Illumina HiSeq	Phase_I	139	42	NM_033151	0	0	0	0	0	Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.099866	0.76983	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	D;D;D;D;D	0.92805	-3.11;-3.11;-3.11;-3.11;-3.11	5.23	5.23	0.72850	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.125360	0.53938	D	0.000060	D	0.95642	0.8583	M	0.80982	2.52	0.48632	D	0.999682	D;D	0.62365	0.979;0.991	P;D	0.72625	0.801;0.978	D	0.96028	0.9014	10	0.87932	D	0	-4.6607	12.6309	0.56657	1.0:0.0:0.0:0.0	.	349;349	Q96J66-2;Q96J66	.;ABCCB_HUMAN	T	349	ENSP00000311326:I349T;ENSP00000349017:I349T;ENSP00000378231:I349T;ENSP00000378230:I349T;ENSP00000438530:I349T	ENSP00000311326:I349T	I	-	2	0	ABCC11	46806662	1.000000	0.71417	0.599000	0.28851	0.926000	0.56050	6.131000	0.71670	1.978000	0.57642	0.528000	0.53228	ATT	.		0.453	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583	
INPP5K	51763	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	1400005	1400005	+	Silent	SNP	G	G	C			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr17:1400005G>C	ENST00000421807.2	-	9	1444	c.1056C>G	c.(1054-1056)acC>acG	p.T352T	INPP5K_ENST00000406424.4_Silent_p.T276T|INPP5K_ENST00000320345.6_Silent_p.T276T|INPP5K_ENST00000542125.1_Silent_p.T256T|INPP5K_ENST00000397335.3_Silent_p.T260T	NM_016532.3	NP_057616.2	Q9BT40	INP5K_HUMAN	inositol polyphosphate-5-phosphatase K	352	Required for ruffle localization.				actin cytoskeleton organization (GO:0030036)|cellular response to cAMP (GO:0071320)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hormone stimulus (GO:0032870)|cellular response to insulin stimulus (GO:0032869)|cellular response to tumor necrosis factor (GO:0071356)|dephosphorylation (GO:0016311)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inositol phosphate dephosphorylation (GO:0046855)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of dephosphorylation (GO:0035305)|negative regulation of glucose transport (GO:0010829)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of stress fiber assembly (GO:0051497)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of renal water transport (GO:2001153)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|protein targeting to plasma membrane (GO:0072661)|regulation of glycogen biosynthetic process (GO:0005979)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	inositol bisphosphate phosphatase activity (GO:0016312)|inositol trisphosphate phosphatase activity (GO:0046030)|inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|lipid phosphatase activity (GO:0042577)|phosphatidylinositol phosphate 5-phosphatase activity (GO:0034595)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)|vasopressin receptor activity (GO:0005000)			endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						GGAAGTCCGAGGTTGAAGAGT	0.567																																					p.T352T		.											.	INPP5K-68	0			c.C1056G						.						141.0	113.0	123.0					17																	1400005		2203	4300	6503	SO:0001819	synonymous_variant	51763	exon9			GTCCGAGGTTGAA		CCDS11004.1, CCDS11005.1	17p13.3	2008-09-09			ENSG00000132376	ENSG00000132376			33882	protein-coding gene	gene with protein product	"""skeletal muscle and kidney enriched inositol phosphatase"""	607875				10753883, 12536145	Standard	NM_016532		Approved	SKIP	uc002fsr.3	Q9BT40	OTTHUMG00000150648	ENST00000421807.2:c.1056C>G	17.37:g.1400005G>C		Somatic	135	0		WXS	Illumina HiSeq	Phase_I	124	68	NM_016532	0	0	23	55	32	B2R6I2|B2R750|D3DTH8|Q15733|Q9NPJ5|Q9P2R5	Silent	SNP	ENST00000421807.2	37	CCDS11004.1																																																																																			.		0.567	INPP5K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319381.4		
ACLY	47	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	40048661	40048661	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr17:40048661C>A	ENST00000352035.2	-	16	1771	c.1641G>T	c.(1639-1641)gaG>gaT	p.E547D	ACLY_ENST00000590151.1_Missense_Mutation_p.E547D|ACLY_ENST00000393896.2_Missense_Mutation_p.E537D|ACLY_ENST00000353196.1_Missense_Mutation_p.E537D|ACLY_ENST00000537919.1_Missense_Mutation_p.E276D	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	547					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				GGATCAGGATCTCTTTGTGCC	0.493																																					p.E547D	Colon(64;807 1396 15971 30971)	.											.	ACLY-228	0			c.G1641T						.						128.0	113.0	118.0					17																	40048661		2203	4300	6503	SO:0001583	missense	47	exon16			CAGGATCTCTTTG	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.1641G>T	17.37:g.40048661C>A	ENSP00000253792:p.Glu547Asp	Somatic	112	0		WXS	Illumina HiSeq	Phase_I	180	68	NM_001096	0	0	129	201	72	B4DIM0|B4E3P0|Q13037|Q9BRL0	Missense_Mutation	SNP	ENST00000352035.2	37	CCDS11412.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.447728	0.84101	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000537919;ENST00000393896	D;D;D;D	0.89939	-1.61;-1.62;-2.59;-1.62	5.49	4.52	0.55395	CoA-binding (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.95373	0.8498	H	0.95328	3.655	0.80722	D	1	P;D;D;D;P	0.57899	0.92;0.981;0.981;0.973;0.92	D;P;P;D;D	0.66084	0.922;0.805;0.805;0.941;0.922	D	0.95675	0.8727	10	0.72032	D	0.01	.	10.7053	0.45952	0.0:0.8307:0.0:0.1693	.	276;591;601;537;547	B4E3P0;B4DIM0;E7ENH9;G3XAI4;P53396	.;.;.;.;ACLY_HUMAN	D	547;601;537;276;537	ENSP00000253792:E547D;ENSP00000345398:E537D;ENSP00000445349:E276D;ENSP00000377474:E537D	ENSP00000253792:E547D	E	-	3	2	ACLY	37302187	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	1.474000	0.35398	1.430000	0.47334	0.561000	0.74099	GAG	.		0.493	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096	
HDAC5	10014	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	42158172	42158172	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr17:42158172C>A	ENST00000393622.2	-	21	3017	c.2686G>T	c.(2686-2688)Gac>Tac	p.D896Y	HDAC5_ENST00000225983.6_Missense_Mutation_p.D897Y|HDAC5_ENST00000586802.1_Missense_Mutation_p.D896Y|HDAC5_ENST00000336057.5_Missense_Mutation_p.D811Y	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	896	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		TTCCCGTTGTCATAGCGATGC	0.562																																					p.D897Y		.											.	HDAC5-227	0			c.G2689T						.						117.0	103.0	108.0					17																	42158172		2203	4300	6503	SO:0001583	missense	10014	exon21			CGTTGTCATAGCG	AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					3.5.1.98		14068	protein-coding gene	gene with protein product		605315				10220385, 9610721	Standard	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000393622.2:c.2686G>T	17.37:g.42158172C>A	ENSP00000377244:p.Asp896Tyr	Somatic	98	0		WXS	Illumina HiSeq	Phase_I	119	44	NM_001015053	0	0	63	88	25	C9JFV9|O60340|O60528|Q96DY4	Missense_Mutation	SNP	ENST00000393622.2	37	CCDS45696.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.376869	0.82682	.	.	ENSG00000108840	ENST00000225983;ENST00000393622;ENST00000336057	T;T;T	0.55234	0.53;0.53;0.64	4.63	4.63	0.57726	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	T	0.80138	0.4568	H	0.94886	3.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.989;1.0	D	0.86300	0.1679	10	0.87932	D	0	-22.7715	16.4039	0.83651	0.0:1.0:0.0:0.0	.	811;897;896	Q9UQL6-2;Q9UQL6-3;Q9UQL6	.;.;HDAC5_HUMAN	Y	897;896;811	ENSP00000225983:D897Y;ENSP00000377244:D896Y;ENSP00000337290:D811Y	ENSP00000225983:D897Y	D	-	1	0	HDAC5	39513698	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.630000	0.83225	2.411000	0.81874	0.563000	0.77884	GAC	.		0.562	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1	NM_001015053	
AFG3L2	10939	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	18	12358734	12358734	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr18:12358734T>C	ENST00000269143.3	-	8	1192	c.961A>G	c.(961-963)Atg>Gtg	p.M321V		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	321					axonogenesis (GO:0007409)|cell death (GO:0008219)|cristae formation (GO:0042407)|mitochondrial fusion (GO:0008053)|mitochondrial protein processing (GO:0034982)|muscle fiber development (GO:0048747)|myelination (GO:0042552)|nerve development (GO:0021675)|neuromuscular junction development (GO:0007528)|regulation of multicellular organism growth (GO:0040014)|righting reflex (GO:0060013)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	ACAAATTCCATGATCTCTAGC	0.383																																					p.M321V		.											.	AFG3L2-90	0			c.A961G						.						86.0	78.0	80.0					18																	12358734		2203	4300	6503	SO:0001583	missense	10939	exon8			ATTCCATGATCTC	Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385		"""ATPases / AAA-type"""	315	protein-coding gene	gene with protein product		604581	"""AFG3 (ATPase family gene 3, yeast)-like 2"", ""spinocerebellar ataxia 28"", ""AFG3 ATPase family gene 3-like 2 (yeast)"", ""AFG3 ATPase family gene 3-like 2 (S. cerevisiae)"", ""AFG3 ATPase family member 3-like 2 (S. cerevisiae)"""	SCA28		10395799, 18769991	Standard	NM_006796		Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.961A>G	18.37:g.12358734T>C	ENSP00000269143:p.Met321Val	Somatic	74	0		WXS	Illumina HiSeq	Phase_I	67	27	NM_006796	0	0	99	183	84	Q6P1L0	Missense_Mutation	SNP	ENST00000269143.3	37	CCDS11859.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.163727	0.78226	.	.	ENSG00000141385	ENST00000269143;ENST00000537174	T	0.39787	1.06	5.76	5.76	0.90799	Peptidase M41, FtsH (2);	0.000000	0.85682	D	0.000000	T	0.45796	0.1360	L	0.42744	1.35	0.80722	D	1	P	0.45986	0.87	P	0.47251	0.542	T	0.45469	-0.9259	10	0.66056	D	0.02	.	16.0735	0.80951	0.0:0.0:0.0:1.0	.	321	Q9Y4W6	AFG32_HUMAN	V	321;336	ENSP00000269143:M321V	ENSP00000269143:M321V	M	-	1	0	AFG3L2	12348734	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.912000	0.69948	2.195000	0.70347	0.533000	0.62120	ATG	.		0.383	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254603.2	NM_006796	
APC2	10297	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	1468067	1468067	+	Silent	SNP	C	C	T			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr19:1468067C>T	ENST00000535453.1	+	14	6480	c.4767C>T	c.(4765-4767)ccC>ccT	p.P1589P	APC2_ENST00000238483.4_Silent_p.P1315P|APC2_ENST00000233607.2_Silent_p.P1589P|C19orf25_ENST00000588427.1_Intron			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCAGCGAGCCCGAGCCCTCGG	0.766																																					p.P1589P		.											.	APC2-290	0			c.C4767T						.						4.0	4.0	4.0					19																	1468067		1704	3627	5331	SO:0001819	synonymous_variant	10297	exon15			CGAGCCCGAGCCC		CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"""Armadillo repeat containing"""	24036	protein-coding gene	gene with protein product	"""adenomatous polyposis coli like"""	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.4767C>T	19.37:g.1468067C>T		Somatic	20	0		WXS	Illumina HiSeq	Phase_I	20	9	NM_005883	0	0	0	0	0	C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Silent	SNP	ENST00000535453.1	37	CCDS12068.1																																																																																			.		0.766	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	NM_005883	
NACC1	112939	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	13249116	13249116	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr19:13249116A>G	ENST00000292431.4	+	6	1606	c.1480A>G	c.(1480-1482)Agt>Ggt	p.S494G	CTC-250I14.3_ENST00000591825.1_RNA	NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	494					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear body (GO:0016604)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						CACCTTCATCAGTGAAACGGG	0.642																																					p.S494G		.											.	NACC1-90	0			c.A1480G						.						176.0	135.0	149.0					19																	13249116		2203	4300	6503	SO:0001583	missense	112939	exon6			TTCATCAGTGAAA	AF395817	CCDS12294.1	19p13.13	2013-01-09	2008-10-03	2008-10-03		ENSG00000160877		"""BEN domain containing"", ""BTB/POZ domain containing"""	20967	protein-coding gene	gene with protein product	"""nucleus accumbens associated 1"", ""BEN domain containing 8"""	610672	"""BTB (POZ) domain containing 14B"""	BTBD14B		12477932	Standard	NM_052876		Approved	NAC1, NAC-1, BEND8, BTBD30	uc002mwm.4	Q96RE7		ENST00000292431.4:c.1480A>G	19.37:g.13249116A>G	ENSP00000292431:p.Ser494Gly	Somatic	193	1		WXS	Illumina HiSeq	Phase_I	161	62	NM_052876	0	0	26	54	28		Missense_Mutation	SNP	ENST00000292431.4	37	CCDS12294.1	.	.	.	.	.	.	.	.	.	.	A	6.336	0.430017	0.11987	.	.	ENSG00000160877	ENST00000292431	T	0.55413	0.52	4.94	3.92	0.45320	.	0.229179	0.43919	D	0.000509	T	0.29817	0.0745	N	0.19112	0.55	0.29280	N	0.870099	B	0.02656	0.0	B	0.01281	0.0	T	0.27571	-1.0070	10	0.02654	T	1	.	8.6147	0.33824	0.9068:0.0:0.0932:0.0	.	494	Q96RE7	NACC1_HUMAN	G	494	ENSP00000292431:S494G	ENSP00000292431:S494G	S	+	1	0	NACC1	13110116	0.945000	0.32115	1.000000	0.80357	0.983000	0.72400	0.957000	0.29215	0.755000	0.32990	0.454000	0.30748	AGT	.		0.642	NACC1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452879.1	NM_052876	
SUGP1	57794	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	19420931	19420931	+	Silent	SNP	C	C	T			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr19:19420931C>T	ENST00000247001.5	-	3	632	c.285G>A	c.(283-285)aaG>aaA	p.K95K	SUGP1_ENST00000334782.5_Silent_p.K95K|SUGP1_ENST00000585763.1_5'UTR	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	95					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						CCTTCTGCAACTTCAGAAACT	0.512																																					p.K95K		.											.	SUGP1-91	0			c.G285A						.						149.0	120.0	130.0					19																	19420931		2203	4300	6503	SO:0001819	synonymous_variant	57794	exon3			CTGCAACTTCAGA	AF521128	CCDS12399.1	19p13	2013-01-28	2010-08-10	2010-08-10		ENSG00000105705		"""G patch domain containing"""	18643	protein-coding gene	gene with protein product		607992	"""splicing factor 4"""	SF4		12594045	Standard	NM_172231		Approved	F23858, DKFZp434E2216, RBP	uc002nmh.3	Q8IWZ8		ENST00000247001.5:c.285G>A	19.37:g.19420931C>T		Somatic	103	0		WXS	Illumina HiSeq	Phase_I	84	36	NM_172231	0	0	18	30	12	O60378|Q6P3X9|Q8TCQ4|Q8WWT4|Q8WWT5|Q9NTG3	Silent	SNP	ENST00000247001.5	37	CCDS12399.1																																																																																			.		0.512	SUGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460128.4	NM_021164	
IGFLR1	79713	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	36232080	36232080	+	Start_Codon_SNP	SNP	A	A	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr19:36232080A>G	ENST00000592537.1	-	2	102	c.2T>C	c.(1-3)aTg>aCg	p.M1T	IGFLR1_ENST00000587101.1_5'Flank|KMT2B_ENST00000607650.1_RNA|IGFLR1_ENST00000344990.3_Start_Codon_SNP_p.M1T|IGFLR1_ENST00000246532.1_Start_Codon_SNP_p.M1T|IGFLR1_ENST00000592889.1_Start_Codon_SNP_p.M1T|IGFLR1_ENST00000588992.1_Start_Codon_SNP_p.M1T|AD000671.6_ENST00000589807.1_3'UTR			Q9H665	IGFR1_HUMAN	IGF-like family receptor 1	1						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						TCCAGGCCCCATCTGGGGGGC	0.632																																					p.M1T		.											.	IGFLR1-90	0			c.T2C						.						17.0	21.0	19.0					19																	36232080		2200	4298	6498	SO:0001582	initiator_codon_variant	79713	exon2			GGCCCCATCTGGG	AK026226	CCDS12472.1	19q13.12	2012-10-02	2011-04-04	2011-04-04	ENSG00000126246	ENSG00000126246			23620	protein-coding gene	gene with protein product		614143	"""U2(RNU2) small nuclear RNA auxiliary factor 1-like 4"", ""transmembrane protein 149"""	U2AF1L4, TMEM149		21454693	Standard	NM_024660		Approved	FLJ22573	uc002obd.4	Q9H665		ENST00000592537.1:c.2T>C	19.37:g.36232080A>G	ENSP00000466181:p.Met1Thr	Somatic	41	0		WXS	Illumina HiSeq	Phase_I	16	6	NM_024660	0	0	1	2	1	Q8N5X0	Missense_Mutation	SNP	ENST00000592537.1	37	CCDS12472.1	.	.	.	.	.	.	.	.	.	.	A	14.65	2.598710	0.46318	.	.	ENSG00000126246	ENST00000246532;ENST00000344990	D	0.93906	-3.31	4.06	4.06	0.47325	.	0.060737	0.64402	D	0.000015	D	0.89873	0.6841	.	.	.	0.80722	D	1	P;B	0.36535	0.557;0.275	B;B	0.36186	0.219;0.037	D	0.90070	0.4162	9	0.87932	D	0	-25.0591	9.6863	0.40100	1.0:0.0:0.0:0.0	.	1;1	Q9H665;Q9H665-2	IGFR1_HUMAN;.	T	1	ENSP00000246532:M1T	ENSP00000246532:M1T	M	-	2	0	IGFLR1	40923920	0.996000	0.38824	0.479000	0.27329	0.024000	0.10985	2.184000	0.42575	2.063000	0.61619	0.533000	0.62120	ATG	.		0.632	IGFLR1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459077.1	NM_024660	Missense_Mutation
ADCK4	79934	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	41220537	41220537	+	Start_Codon_SNP	SNP	T	T	C			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr19:41220537T>C	ENST00000324464.3	-	2	302	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	ADCK4_ENST00000450541.1_Start_Codon_SNP_p.M1V|ADCK4_ENST00000243583.6_Start_Codon_SNP_p.M1V|ITPKC_ENST00000263370.2_5'Flank	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	1						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			TTCAGCCACATTGCCTGGAGG	0.647																																					p.M1V		.											.	ADCK4-319	0			c.A1G						.						29.0	33.0	32.0					19																	41220537		2203	4294	6497	SO:0001582	initiator_codon_variant	79934	exon2			GCCACATTGCCTG	AK022291	CCDS12562.1, CCDS46081.1	19q13.2	2008-02-05				ENSG00000123815			19041	protein-coding gene	gene with protein product		615567					Standard	NM_024876		Approved	FLJ12229, COQ8	uc002oor.2	Q96D53		ENST00000324464.3:c.1A>G	19.37:g.41220537T>C	ENSP00000315118:p.Met1Val	Somatic	65	0		WXS	Illumina HiSeq	Phase_I	52	20	NM_001142555	0	0	0	0	0	Q8TAJ1|Q9HA52	Missense_Mutation	SNP	ENST00000324464.3	37	CCDS12562.1	.	.	.	.	.	.	.	.	.	.	T	14.71	2.615206	0.46631	.	.	ENSG00000123815	ENST00000324464;ENST00000450541;ENST00000243583	T;T;T	0.73789	-0.78;-0.51;-0.51	4.55	4.55	0.56014	.	0.247400	0.39615	N	0.001314	D	0.82577	0.5067	.	.	.	0.80722	D	1	P;P	0.43578	0.713;0.811	P;P	0.57846	0.678;0.828	D	0.84357	0.0536	9	0.87932	D	0	-23.741	10.4559	0.44550	0.0:0.0:0.0:1.0	.	1;1	Q96D53;Q96D53-2	ADCK4_HUMAN;.	V	1	ENSP00000315118:M1V;ENSP00000412839:M1V;ENSP00000243583:M1V	ENSP00000243583:M1V	M	-	1	0	ADCK4	45912377	0.995000	0.38212	0.973000	0.42090	0.593000	0.36681	3.641000	0.54360	2.051000	0.60960	0.459000	0.35465	ATG	.		0.647	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462731.1	NM_024876	Missense_Mutation
PRR12	57479	hgsc.bcm.edu	37	19	50119185	50119185	+	Missense_Mutation	SNP	C	C	G	rs200319638	byFrequency	TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr19:50119185C>G	ENST00000418929.2	+	9	5218	c.5206C>G	c.(5206-5208)Cgg>Ggg	p.R1736G		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	915							DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CTCCCTCCTGCGGCCTGTTga	0.652																																					p.R1736G		.											.	PRR12-70	0			c.C5206G						.						18.0	23.0	22.0					19																	50119185		1962	4072	6034	SO:0001583	missense	57479	exon9			CTCCTGCGGCCTG	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.5206C>G	19.37:g.50119185C>G	ENSP00000394510:p.Arg1736Gly	Somatic	4	1		WXS	Illumina HiSeq	Phase_I	7	5	NM_020719	0	0	13	26	13	E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	37	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	C	5.800	0.331856	0.10956	.	.	ENSG00000126464	ENST00000418929;ENST00000246798;ENST00000314734	.	.	.	4.9	2.71	0.32032	.	0.215814	0.23676	N	0.045663	T	0.31071	0.0785	L	0.40543	1.245	0.09310	N	1	B	0.26483	0.15	B	0.25884	0.064	T	0.18461	-1.0336	9	0.46703	T	0.11	-19.9557	9.1228	0.36797	0.2505:0.616:0.1334:0.0	.	1736	Q9ULL5-3	.	G	1736;916;916	.	ENSP00000246798:R916G	R	+	1	2	PRR12	54810997	0.045000	0.20229	0.090000	0.20809	0.041000	0.13682	0.816000	0.27267	2.554000	0.86153	0.561000	0.74099	CGG	C|0.999;G|0.001		0.652	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719	
ZNF347	84671	hgsc.bcm.edu	37	19	53643807	53643807	+	Silent	SNP	A	A	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr19:53643807A>G	ENST00000334197.7	-	5	2342	c.2274T>C	c.(2272-2274)atT>atC	p.I758I	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.I759I|ZNF347_ENST00000452676.2_Silent_p.I759I	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	758					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		CTCCAGTATGAATTCCCCGAT	0.423																																					p.I759I	Melanoma(64;205 1597 17324 45721)	.											.	ZNF347-90	0			c.T2277C						.						157.0	152.0	154.0					19																	53643807		2203	4300	6503	SO:0001819	synonymous_variant	84671	exon5			AGTATGAATTCCC	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.2274T>C	19.37:g.53643807A>G		Somatic	226	0		WXS	Illumina HiSeq	Phase_I	265	24	NM_001172675	0	0	1	1	0	B3KU77|B9EG59|G5E9N4|Q8TCN1	Silent	SNP	ENST00000334197.7	37	CCDS33097.1																																																																																			.		0.423	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584	
ZNF347	84671	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	19	53643811	53643811	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr19:53643811C>G	ENST00000334197.7	-	5	2338	c.2270G>C	c.(2269-2271)gGa>gCa	p.G757A	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.G758A|ZNF347_ENST00000452676.2_Missense_Mutation_p.G758A	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	757					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AGTATGAATTCCCCGATGTCT	0.423																																					p.G758A	Melanoma(64;205 1597 17324 45721)	.											.	ZNF347-90	0			c.G2273C						.						159.0	153.0	155.0					19																	53643811		2203	4300	6503	SO:0001583	missense	84671	exon5			TGAATTCCCCGAT	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.2270G>C	19.37:g.53643811C>G	ENSP00000334146:p.Gly757Ala	Somatic	226	0		WXS	Illumina HiSeq	Phase_I	267	28	NM_001172675	0	0	3	3	0	B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	37	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	C	5.602	0.295791	0.10622	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.16897	2.31;2.31	3.15	2.07	0.26955	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09862	0.0242	N	0.04063	-0.285	0.23739	N	0.996976	B;B	0.27068	0.167;0.0	B;B	0.32864	0.154;0.0	T	0.36138	-0.9760	9	0.72032	D	0.01	.	10.7968	0.46466	0.0:0.6301:0.3699:0.0	.	758;757	G5E9N4;Q96SE7	.;ZN347_HUMAN	A	757;758	ENSP00000334146:G757A;ENSP00000405218:G758A	ENSP00000334146:G757A	G	-	2	0	ZNF347	58335623	0.000000	0.05858	0.005000	0.12908	0.016000	0.09150	-3.284000	0.00527	0.642000	0.30620	0.650000	0.86243	GGA	.		0.423	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584	
ZNF347	84671	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	19	53643814	53643814	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr19:53643814C>T	ENST00000334197.7	-	5	2335	c.2267G>A	c.(2266-2268)cGg>cAg	p.R756Q	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.R757Q|ZNF347_ENST00000452676.2_Missense_Mutation_p.R757Q	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	756					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		ATGAATTCCCCGATGTCTTGC	0.423																																					p.R757Q	Melanoma(64;205 1597 17324 45721)	.											.	ZNF347-90	0			c.G2270A						.						159.0	153.0	156.0					19																	53643814		2203	4300	6503	SO:0001583	missense	84671	exon5			ATTCCCCGATGTC	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.2267G>A	19.37:g.53643814C>T	ENSP00000334146:p.Arg756Gln	Somatic	229	1		WXS	Illumina HiSeq	Phase_I	265	30	NM_001172675	0	0	8	8	0	B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	37	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	C	0.021	-1.421117	0.01126	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.07444	3.19;3.19	3.16	-5.44	0.02624	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03178	0.0093	N	0.26162	0.8	0.09310	N	1	B;B	0.22146	0.065;0.002	B;B	0.12837	0.008;0.001	T	0.46638	-0.9177	9	0.02654	T	1	.	1.0194	0.01514	0.2009:0.2758:0.1158:0.4075	.	757;756	G5E9N4;Q96SE7	.;ZN347_HUMAN	Q	756;757	ENSP00000334146:R756Q;ENSP00000405218:R757Q	ENSP00000334146:R756Q	R	-	2	0	ZNF347	58335626	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.642000	0.02006	-1.289000	0.02375	-2.433000	0.00214	CGG	.		0.423	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584	
ZNF347	84671	hgsc.bcm.edu	37	19	53644104	53644104	+	Silent	SNP	G	G	C			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr19:53644104G>C	ENST00000334197.7	-	5	2045	c.1977C>G	c.(1975-1977)ggC>ggG	p.G659G	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.G660G|ZNF347_ENST00000452676.2_Silent_p.G660G	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	659					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TGAAGACCTTGCCACACTCAT	0.403																																					p.G660G	Melanoma(64;205 1597 17324 45721)	.											.	ZNF347-90	0			c.C1980G						.						175.0	157.0	163.0					19																	53644104		2203	4300	6503	SO:0001819	synonymous_variant	84671	exon5			GACCTTGCCACAC	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1977C>G	19.37:g.53644104G>C		Somatic	195	2		WXS	Illumina HiSeq	Phase_I	174	19	NM_001172675	0	0	6	6	0	B3KU77|B9EG59|G5E9N4|Q8TCN1	Silent	SNP	ENST00000334197.7	37	CCDS33097.1																																																																																			.		0.403	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584	
ZNF347	84671	hgsc.bcm.edu	37	19	53644116	53644116	+	Silent	SNP	A	A	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr19:53644116A>G	ENST00000334197.7	-	5	2033	c.1965T>C	c.(1963-1965)tgT>tgC	p.C655C	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.C656C|ZNF347_ENST00000452676.2_Silent_p.C656C	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	655					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		CACACTCATTACATTTGTAAG	0.403																																					p.C656C	Melanoma(64;205 1597 17324 45721)	.											.	ZNF347-90	0			c.T1968C						.						173.0	157.0	162.0					19																	53644116		2203	4300	6503	SO:0001819	synonymous_variant	84671	exon5			CTCATTACATTTG	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1965T>C	19.37:g.53644116A>G		Somatic	191	2		WXS	Illumina HiSeq	Phase_I	174	13	NM_001172675	0	0	13	13	0	B3KU77|B9EG59|G5E9N4|Q8TCN1	Silent	SNP	ENST00000334197.7	37	CCDS33097.1																																																																																			.		0.403	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584	
RANBP2	5903	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	109383218	109383218	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr2:109383218A>C	ENST00000283195.6	+	20	6349	c.6223A>C	c.(6223-6225)Atg>Ctg	p.M2075L		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2075	RanBD1 2. {ECO:0000255|PROSITE- ProRule:PRU00164}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AAGAATGCTGATGCGAAGAGA	0.408																																					p.M2075L		.											.	RANBP2-675	0			c.A6223C						.						190.0	209.0	202.0					2																	109383218		2202	4285	6487	SO:0001583	missense	5903	exon20			ATGCTGATGCGAA	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.6223A>C	2.37:g.109383218A>C	ENSP00000283195:p.Met2075Leu	Somatic	697	0		WXS	Illumina HiSeq	Phase_I	566	257	NM_006267	0	0	43	61	18	Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.065716	0.76187	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.50548	0.74	5.65	5.65	0.86999	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.69269	0.3092	M	0.73962	2.25	0.42261	D	0.992016	D	0.76494	0.999	D	0.83275	0.996	T	0.73603	-0.3930	9	0.72032	D	0.01	-23.7784	15.8694	0.79101	1.0:0.0:0.0:0.0	.	2075	P49792	RBP2_HUMAN	L	1099;2075	ENSP00000283195:M2075L	ENSP00000283195:M2075L	M	+	1	0	RANBP2	108749650	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.143000	0.66587	0.455000	0.32223	ATG	.		0.408	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267	
RIF1	55183	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	152319615	152319615	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr2:152319615C>A	ENST00000243326.5	+	29	4064	c.3581C>A	c.(3580-3582)tCt>tAt	p.S1194Y	RIF1_ENST00000428287.2_Missense_Mutation_p.S1194Y|RIF1_ENST00000444746.2_Missense_Mutation_p.S1194Y|RIF1_ENST00000453091.2_Missense_Mutation_p.S1194Y|RIF1_ENST00000430328.2_Missense_Mutation_p.S1194Y			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		ACAGAAAATTCTTTCGTTGTC	0.368																																					p.S1194Y		.											.	RIF1-300	0			c.C3581A						.						97.0	95.0	96.0					2																	152319615		2203	4300	6503	SO:0001583	missense	55183	exon30			AAAATTCTTTCGT	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.3581C>A	2.37:g.152319615C>A	ENSP00000243326:p.Ser1194Tyr	Somatic	101	1		WXS	Illumina HiSeq	Phase_I	108	23	NM_018151	0	0	4	4	0	A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	C	5.213	0.224840	0.09916	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.11712	2.76;2.75;2.75;2.76;2.75	5.06	4.17	0.49024	.	0.650132	0.14971	N	0.287787	T	0.10078	0.0247	N	0.19112	0.55	0.43234	D	0.995138	P;P	0.51351	0.94;0.944	B;P	0.44811	0.332;0.461	T	0.16070	-1.0415	10	0.62326	D	0.03	-4.9829	13.5366	0.61650	0.0:0.9222:0.0:0.0778	.	1194;1194	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	Y	1194	ENSP00000390181:S1194Y;ENSP00000414615:S1194Y;ENSP00000415691:S1194Y;ENSP00000243326:S1194Y;ENSP00000416123:S1194Y	ENSP00000243326:S1194Y	S	+	2	0	RIF1	152027861	0.000000	0.05858	0.004000	0.12327	0.013000	0.08279	0.710000	0.25748	2.339000	0.79563	0.563000	0.77884	TCT	.		0.368	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3		
ZNF804A	91752	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	185802128	185802128	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr2:185802128G>C	ENST00000302277.6	+	4	2599	c.2005G>C	c.(2005-2007)Gac>Cac	p.D669H		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	669							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						ATCCTTAAGTGACAATGAAGA	0.323																																					p.D669H		.											.	ZNF804A-163	0			c.G2005C						.						83.0	86.0	85.0					2																	185802128		2203	4297	6500	SO:0001583	missense	91752	exon4			TTAAGTGACAATG	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2005G>C	2.37:g.185802128G>C	ENSP00000303252:p.Asp669His	Somatic	126	0		WXS	Illumina HiSeq	Phase_I	112	44	NM_194250	0	0	0	0	0	A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.829378	0.50845	.	.	ENSG00000170396	ENST00000302277	T	0.05996	3.36	5.54	4.47	0.54385	.	0.381496	0.22235	N	0.062766	T	0.03608	0.0103	N	0.08118	0	0.09310	N	1	B	0.33448	0.412	B	0.31191	0.125	T	0.41680	-0.9495	10	0.46703	T	0.11	-15.3768	10.7923	0.46440	0.0812:0.0:0.7837:0.1351	.	669	Q7Z570	Z804A_HUMAN	H	669	ENSP00000303252:D669H	ENSP00000303252:D669H	D	+	1	0	ZNF804A	185510373	0.943000	0.32029	0.885000	0.34714	0.589000	0.36550	1.746000	0.38288	2.609000	0.88269	0.655000	0.94253	GAC	.		0.323	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250	
ANKRD44	91526	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	198001337	198001337	+	Silent	SNP	C	C	A			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr2:198001337C>A	ENST00000328737.2	-	4	241	c.165G>T	c.(163-165)cgG>cgT	p.R55R	ANKRD44_ENST00000337207.5_Silent_p.R55R|ANKRD44_ENST00000539527.1_Silent_p.R8R|ANKRD44_ENST00000409153.1_Silent_p.R80R|ANKRD44_ENST00000450567.1_Silent_p.R55R|ANKRD44_ENST00000282272.8_Silent_p.R72R|ANKRD44_ENST00000409919.1_Silent_p.R80R			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	80										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AAGCAACAGCCCGGTGCAGTG	0.443																																					p.R80R		.											.	ANKRD44-230	0			c.G240T						.						86.0	86.0	86.0					2																	198001337		2203	4300	6503	SO:0001819	synonymous_variant	91526	exon4			AACAGCCCGGTGC	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.165G>T	2.37:g.198001337C>A		Somatic	86	0		WXS	Illumina HiSeq	Phase_I	67	30	NM_153697	0	0	0	1	1	Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Silent	SNP	ENST00000328737.2	37																																																																																				.		0.443	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697	
RBM44	375316	hgsc.bcm.edu	37	2	238726834	238726834	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr2:238726834A>G	ENST00000409864.1	+	3	1529	c.1275A>G	c.(1273-1275)atA>atG	p.I425M	RBM44_ENST00000316997.4_Missense_Mutation_p.I425M|RBM44_ENST00000444524.2_Intron			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	424						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		ATCAGGCAATAGAAGATAATA	0.388																																					p.I425M		.											.	RBM44-26	0			c.A1275G						.						48.0	45.0	46.0					2																	238726834		1910	4121	6031	SO:0001583	missense	375316	exon3			GGCAATAGAAGAT	AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"""RNA binding motif (RRM) containing"""	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.1275A>G	2.37:g.238726834A>G	ENSP00000386727:p.Ile425Met	Somatic	53	0		WXS	Illumina HiSeq	Phase_I	39	2	NM_001080504	0	0	0	0	0	A0AUW3	Missense_Mutation	SNP	ENST00000409864.1	37	CCDS46554.1	.	.	.	.	.	.	.	.	.	.	A	5.735	0.320040	0.10845	.	.	ENSG00000177483	ENST00000316997;ENST00000409864	T;T	0.23950	1.88;1.88	5.86	-9.86	0.00473	.	2.411480	0.01194	N	0.007402	T	0.14657	0.0354	L	0.29908	0.895	0.09310	N	1	B	0.14438	0.01	B	0.11329	0.006	T	0.17228	-1.0376	10	0.40728	T	0.16	6.4429	4.7765	0.13182	0.1714:0.1865:0.497:0.1451	.	424	Q6ZP01	RBM44_HUMAN	M	425	ENSP00000321179:I425M;ENSP00000386727:I425M	ENSP00000321179:I425M	I	+	3	3	RBM44	238391573	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.866000	0.04245	-1.235000	0.02545	0.482000	0.46254	ATA	.		0.388	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2	NM_001080504	
RBBP9	10741	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	18471080	18471080	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr20:18471080G>A	ENST00000337227.4	-	4	368	c.293C>T	c.(292-294)gCg>gTg	p.A98V	RBBP9_ENST00000493184.1_Intron	NM_006606.2	NP_006597.2	O75884	RBBP9_HUMAN	retinoblastoma binding protein 9	98					regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|prostate(1)	9						TGATGTGTACGCAGACACTAA	0.408																																					p.A98V		.											.	RBBP9-227	0			c.C293T						.						158.0	140.0	146.0					20																	18471080		2203	4300	6503	SO:0001583	missense	10741	exon4			GTGTACGCAGACA	AF039564	CCDS13136.1	20p11.2	2008-08-01	2001-11-28		ENSG00000089050	ENSG00000089050			9892	protein-coding gene	gene with protein product		602908	"""retinoblastoma-binding protein 9"""			9697699, 10449909	Standard	NM_006606		Approved	Bog	uc002wqy.3	O75884	OTTHUMG00000031972	ENST00000337227.4:c.293C>T	20.37:g.18471080G>A	ENSP00000336866:p.Ala98Val	Somatic	135	0		WXS	Illumina HiSeq	Phase_I	111	39	NM_006606	0	0	27	54	27	D3DW31|Q5JPH9|Q9H1D8	Missense_Mutation	SNP	ENST00000337227.4	37	CCDS13136.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.350862	0.82132	.	.	ENSG00000089050	ENST00000337227;ENST00000339848	.	.	.	5.26	4.32	0.51571	.	0.000000	0.64402	D	0.000001	T	0.76615	0.4012	M	0.79614	2.46	0.45676	D	0.998592	D	0.89917	1.0	D	0.72625	0.978	T	0.77032	-0.2738	9	0.41790	T	0.15	-9.6629	11.6719	0.51406	0.0851:0.0:0.9149:0.0	.	98	O75884	RBBP9_HUMAN	V	98	.	ENSP00000336866:A98V	A	-	2	0	RBBP9	18419080	1.000000	0.71417	0.983000	0.44433	0.986000	0.74619	6.413000	0.73308	1.455000	0.47813	0.655000	0.94253	GCG	.		0.408	RBBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078175.1	NM_006606	
ENTPD6	955	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	25201971	25201971	+	Splice_Site	SNP	T	T	A			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr20:25201971T>A	ENST00000376652.4	+	11	1208		c.e11+2		ENTPD6_ENST00000360031.2_Splice_Site|ENTPD6_ENST00000354989.5_Splice_Site|ENTPD6_ENST00000433259.2_Intron			O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)						response to calcium ion (GO:0051592)|response to magnesium ion (GO:0032026)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	guanosine-5'-triphosphate,3'-diphosphate diphosphatase activity (GO:0008894)|nucleoside-triphosphatase activity (GO:0017111)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						AGAAAGCAGGTACGGGGAGGG	0.582																																					.		.											.	ENTPD6-90	0			c.1045+2T>A						.						87.0	75.0	79.0					20																	25201971		2203	4300	6503	SO:0001630	splice_region_variant	955	exon11			AGCAGGTACGGGG	AF039916	CCDS13170.1, CCDS46586.1	20p11.21	2010-06-24	2010-06-24		ENSG00000197586	ENSG00000197586			3368	protein-coding gene	gene with protein product		603160	"""interleukin 6 signal transducer-2"""	CD39L2, IL6ST2		9676430	Standard	NM_001247		Approved	NTPDase-6, dJ738P15.3	uc002wuj.2	O75354	OTTHUMG00000032116	ENST00000376652.4:c.1045+2T>A	20.37:g.25201971T>A		Somatic	52	0		WXS	Illumina HiSeq	Phase_I	41	21	NM_001247	0	0	0	0	0	A6NCX6|D3DW49|Q5QPJ2|Q5QPJ5|Q7Z5B5|Q8N3H3|Q8TAS7|Q9UJD1	Splice_Site	SNP	ENST00000376652.4	37	CCDS13170.1	.	.	.	.	.	.	.	.	.	.	T	11.07	1.531860	0.27387	.	.	ENSG00000197586	ENST00000354989;ENST00000360031;ENST00000525986;ENST00000376641;ENST00000376652;ENST00000433417;ENST00000376666	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8578	0.57894	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ENTPD6	25149971	1.000000	0.71417	0.919000	0.36401	0.014000	0.08584	6.084000	0.71335	2.124000	0.65301	0.459000	0.35465	.	.		0.582	ENTPD6-020	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078414.2		Intron
SGK2	10110	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	42208647	42208647	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr20:42208647A>G	ENST00000341458.4	+	11	1284	c.1065A>G	c.(1063-1065)atA>atG	p.I355M	SGK2_ENST00000373092.3_Missense_Mutation_p.I295M|SGK2_ENST00000373077.1_Missense_Mutation_p.I294M|SGK2_ENST00000426287.1_Missense_Mutation_p.I321M|SGK2_ENST00000423407.3_Missense_Mutation_p.I295M|SGK2_ENST00000373100.1_Missense_Mutation_p.I295M	NM_016276.3	NP_057360.2	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	355	AGC-kinase C-terminal.				intracellular signal transduction (GO:0035556)|ion transmembrane transport (GO:0034220)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TCAGCCCCATAAACTGGGATG	0.502																																					p.I355M		.											.	SGK2-990	0			c.A1065G						.						133.0	118.0	123.0					20																	42208647		2203	4300	6503	SO:0001583	missense	10110	exon11			CCCCATAAACTGG	AF169034	CCDS13320.1, CCDS13321.1	20q13.2	2008-07-04			ENSG00000101049	ENSG00000101049			13900	protein-coding gene	gene with protein product		607589				10548550	Standard	NM_016276		Approved		uc002xkv.3	Q9HBY8	OTTHUMG00000033054	ENST00000341458.4:c.1065A>G	20.37:g.42208647A>G	ENSP00000340608:p.Ile355Met	Somatic	131	0		WXS	Illumina HiSeq	Phase_I	107	51	NM_016276	0	0	22	37	15	Q52PK5|Q5H8Y6|Q5H8Z1|Q5TZR3|Q9UKG6	Missense_Mutation	SNP	ENST00000341458.4	37	CCDS13320.1	.	.	.	.	.	.	.	.	.	.	A	16.64	3.178740	0.57692	.	.	ENSG00000101049	ENST00000373100;ENST00000373092;ENST00000373077;ENST00000423407;ENST00000341458;ENST00000426287	T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55	4.62	2.2	0.27929	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.68751	0.3035	M	0.82823	2.61	0.52501	D	0.999953	D;D;D	0.89917	0.998;0.995;1.0	D;D;D	0.77557	0.986;0.972;0.99	T	0.66524	-0.5902	10	0.87932	D	0	.	6.32	0.21213	0.5364:0.3128:0.0:0.1508	.	321;355;295	Q9HBY8-3;Q9HBY8;Q9HBY8-2	.;SGK2_HUMAN;.	M	295;295;294;295;355;321	ENSP00000362192:I295M;ENSP00000362184:I295M;ENSP00000362168:I294M;ENSP00000392795:I295M;ENSP00000340608:I355M;ENSP00000412214:I321M	ENSP00000340608:I355M	I	+	3	3	SGK2	41642061	0.996000	0.38824	1.000000	0.80357	0.967000	0.64934	0.539000	0.23175	0.183000	0.20059	0.460000	0.39030	ATA	.		0.502	SGK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080383.1		
CDH22	64405	broad.mit.edu	37	20	44806642	44806642	+	Missense_Mutation	SNP	C	C	T	rs144477780		TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr20:44806642C>T	ENST00000372262.3	-	10	2258	c.1858G>A	c.(1858-1860)Gcc>Acc	p.A620T	CDH22_ENST00000537909.1_Missense_Mutation_p.A620T	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	620					brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CTGAGGGAGGCGGCCATGACA	0.652																																					p.A620T													.	CDH22-95	0			c.G1858A						.	C	THR/ALA	2,4404	4.2+/-10.8	0,2,2201	80.0	63.0	69.0		1858	-0.1	0.2	20	dbSNP_134	69	0,8600		0,0,4300	no	missense	CDH22	NM_021248.1	58	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	620/829	44806642	2,13004	2203	4300	6503	SO:0001583	missense	64405	exon11			GGGAGGCGGCCAT	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"""Cadherins / Major cadherins"""	13251	protein-coding gene	gene with protein product		609920	"""cadherin-like 22"""	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.1858G>A	20.37:g.44806642C>T	ENSP00000361336:p.Ala620Thr	Somatic	43	1		WXS	Illumina HiSeq	Phase_I	40	5	NM_021248	0	0	0	0	0	B9EGK7|O43205	Missense_Mutation	SNP	ENST00000372262.3	37	CCDS13395.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.062247	0.36373	4.54E-4	0.0	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.37411	1.2;1.2	4.43	-0.0867	0.13680	.	0.131614	0.50627	N	0.000117	T	0.27169	0.0666	L	0.46157	1.445	0.38025	D	0.934971	B	0.11235	0.004	B	0.06405	0.002	T	0.08146	-1.0736	10	0.45353	T	0.12	.	8.4704	0.32982	0.0:0.6374:0.0:0.3626	.	620	Q9UJ99	CAD22_HUMAN	T	620	ENSP00000361336:A620T;ENSP00000437790:A620T	ENSP00000361336:A620T	A	-	1	0	CDH22	44240049	0.777000	0.28628	0.185000	0.23176	0.990000	0.78478	1.573000	0.36472	-0.138000	0.11434	-0.302000	0.09304	GCC	C|1.000;T|0.000		0.652	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248	
LIMK2	3985	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	31655910	31655910	+	Missense_Mutation	SNP	T	T	C	rs377628882		TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr22:31655910T>C	ENST00000331728.4	+	5	512	c.398T>C	c.(397-399)aTg>aCg	p.M133T	LIMK2_ENST00000406516.1_Missense_Mutation_p.M55T|LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000340552.4_Missense_Mutation_p.M112T|LIMK2_ENST00000333611.4_Missense_Mutation_p.M112T	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	133					phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						CTGGCACCCATGTTTGAGAGA	0.602																																					p.M133T		.											.	LIMK2-548	0			c.T398C						.	T	THR/MET,THR/MET,THR/MET	1,4405	2.1+/-5.4	0,1,2202	55.0	50.0	52.0		335,398,335	5.6	1.0	22		52	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	LIMK2	NM_001031801.1,NM_005569.3,NM_016733.2	81,81,81	0,2,6501	CC,CT,TT		0.0116,0.0227,0.0154	benign,benign,benign	112/687,133/639,112/618	31655910	2,13004	2203	4300	6503	SO:0001583	missense	3985	exon5			CACCCATGTTTGA	D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.398T>C	22.37:g.31655910T>C	ENSP00000332687:p.Met133Thr	Somatic	95	0		WXS	Illumina HiSeq	Phase_I	38	32	NM_005569	0	0	4	5	1	A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Missense_Mutation	SNP	ENST00000331728.4	37	CCDS13891.1	.	.	.	.	.	.	.	.	.	.	T	13.43	2.234384	0.39498	2.27E-4	1.16E-4	ENSG00000182541	ENST00000406516;ENST00000331728;ENST00000436394;ENST00000333611;ENST00000340552	T;T;T;T	0.73575	-0.76;-0.59;-0.64;-0.71	5.63	5.63	0.86233	.	0.039543	0.85682	D	0.000000	T	0.61862	0.2381	L	0.36672	1.1	0.80722	D	1	B;B;B;P	0.35328	0.01;0.017;0.002;0.495	B;B;B;B	0.33750	0.018;0.008;0.004;0.169	T	0.59397	-0.7462	10	0.20519	T	0.43	-31.4981	10.2918	0.43601	0.1471:0.0:0.0:0.8529	.	165;112;133;55	F5GY29;Q7L3H5;P53671;B5MC51	.;.;LIMK2_HUMAN;.	T	55;133;165;112;112	ENSP00000384602:M55T;ENSP00000332687:M133T;ENSP00000330470:M112T;ENSP00000339916:M112T	ENSP00000332687:M133T	M	+	2	0	LIMK2	29985910	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.829000	0.69316	2.144000	0.66660	0.459000	0.35465	ATG	.		0.602	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321911.1	NM_016733	
BAIAP2L2	80115	hgsc.bcm.edu	37	22	38482355	38482355	+	Missense_Mutation	SNP	C	C	G	rs371997714|rs113792005|rs66500630	byFrequency	TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr22:38482355C>G	ENST00000381669.3	-	12	1505	c.1361G>C	c.(1360-1362)cGc>cCc	p.R454P	SLC16A8_ENST00000469516.1_5'Flank	NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	454					filopodium assembly (GO:0046847)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|signal transduction (GO:0007165)	cell-cell contact zone (GO:0044291)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	phospholipid binding (GO:0005543)			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					GCTTGGGGTGCGGGAGCGGGA	0.697																																					p.R454P		.											.	BAIAP2L2-91	0			c.G1361C						.						17.0	19.0	18.0					22																	38482355		2066	3890	5956	SO:0001583	missense	80115	exon12			GGGGTGCGGGAGC	BC015619	CCDS43018.1	22q13.1	2005-02-09			ENSG00000128298	ENSG00000128298			26203	protein-coding gene	gene with protein product							Standard	NM_025045		Approved	FLJ22582	uc003auw.3	Q6UXY1	OTTHUMG00000151197	ENST00000381669.3:c.1361G>C	22.37:g.38482355C>G	ENSP00000371085:p.Arg454Pro	Somatic	0	0		WXS	Illumina HiSeq	Phase_I	2	2	NM_025045	0	0	0	0	0	B0QYE2|Q96BG7	Missense_Mutation	SNP	ENST00000381669.3	37	CCDS43018.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.52|15.52	2.857588|2.857588	0.51376|0.51376	.|.	.|.	ENSG00000128298|ENSG00000128298	ENST00000402500|ENST00000381669;ENST00000428572	.|T	.|0.49139	.|0.79	4.42|4.42	2.26|2.26	0.28386|0.28386	.|.	.|1.035940	.|0.07692	.|U	.|0.938938	.|T	.|0.36026	.|0.0952	L|L	0.38531|0.38531	1.155|1.155	0.19300|0.19300	N|N	0.999976|0.999976	.|P	.|0.43578	.|0.811	.|B	.|0.36719	.|0.231	.|T	.|0.18650	.|-1.0330	.|10	.|0.42905	.|T	.|0.14	.|-8.7443	8.9998|8.9998	0.36074|0.36074	0.0:0.8207:0.0:0.1793|0.0:0.8207:0.0:0.1793	.|.	.|454	.|Q6UXY1	.|BI2L2_HUMAN	.|P	-1|454;145	.|ENSP00000410074:R145P	.|ENSP00000371085:R454P	.|R	-|-	.|2	.|0	BAIAP2L2|BAIAP2L2	36812301|36812301	0.028000|0.028000	0.19301|0.19301	0.834000|0.834000	0.33040|0.33040	0.620000|0.620000	0.37586|0.37586	0.644000|0.644000	0.24766|0.24766	0.846000|0.846000	0.35142|0.35142	0.462000|0.462000	0.41574|0.41574	.|CGC	.		0.697	BAIAP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321727.1	NM_025045	
TBC1D22A	25771	hgsc.bcm.edu	37	22	47507402	47507402	+	Splice_Site	SNP	A	A	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr22:47507402A>G	ENST00000337137.4	+	12	1495		c.e12-1		TBC1D22A_ENST00000355704.3_Splice_Site|TBC1D22A_ENST00000406733.1_Splice_Site|TBC1D22A_ENST00000407381.3_Splice_Site	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A								protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		TTTCTCTTTTAGTCTGAACCG	0.418																																					.		.											.	TBC1D22A-91	0			c.1330-2A>G						.						127.0	122.0	124.0					22																	47507402		2203	4300	6503	SO:0001630	splice_region_variant	25771	exon12			TCTTTTAGTCTGA	AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611			1309	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 4"""	C22orf4			Standard	XM_005261496		Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.1330-1A>G	22.37:g.47507402A>G		Somatic	76	0		WXS	Illumina HiSeq	Phase_I	37	2	NM_014346	0	0	0	0	0	B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Splice_Site	SNP	ENST00000337137.4	37	CCDS14078.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.226570	0.79576	.	.	ENSG00000054611	ENST00000337137;ENST00000407381;ENST00000355704;ENST00000406733	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1925	0.59719	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TBC1D22A	45886066	1.000000	0.71417	0.990000	0.47175	0.829000	0.46940	7.909000	0.87444	1.993000	0.58246	0.533000	0.62120	.	.		0.418	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	NM_014346	Intron
DCP1A	55802	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	53376261	53376261	+	Silent	SNP	G	G	T			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr3:53376261G>T	ENST00000607628.1	-	3	323	c.214C>A	c.(214-216)Cga>Aga	p.R72R	DCP1A_ENST00000480258.1_5'UTR|DCP1A_ENST00000294241.6_Silent_p.R72R|DCP1A_ENST00000606822.1_Silent_p.R72R	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A	72					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		ATATTTAGTCGATTCACAATG	0.318																																					p.R72R		.											.	DCP1A-90	0			c.C214A						.						55.0	54.0	55.0					3																	53376261		1826	4080	5906	SO:0001819	synonymous_variant	55802	exon3			TTAGTCGATTCAC	AJ275986	CCDS74946.1	3p21.1	2013-05-02	2013-05-02		ENSG00000162290	ENSG00000272886			18714	protein-coding gene	gene with protein product		607010	"""DCP1 decapping enzyme homolog A (S. cerevisiae)"""				Standard	XM_005278360		Approved	HSA275986, SMIF, SMAD4IP1	uc021wzi.1	Q9NPI6	OTTHUMG00000158193	ENST00000607628.1:c.214C>A	3.37:g.53376261G>T		Somatic	22	0		WXS	Illumina HiSeq	Phase_I	17	11	NM_018403	0	0	5	9	4	B4DHN9|U3KQM8	Silent	SNP	ENST00000607628.1	37																																																																																				.		0.318	DCP1A-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_018403	
MORC1	27136	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	108703606	108703606	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr3:108703606C>T	ENST00000483760.1	-	22	2261	c.2218G>A	c.(2218-2220)Gtt>Att	p.V740I	MORC1_ENST00000232603.5_Missense_Mutation_p.V761I					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ATTGCTAGAACATCATTGCAC	0.363																																					p.V761I		.											.	MORC1-98	0			c.G2281A						.						105.0	94.0	98.0					3																	108703606		2203	4299	6502	SO:0001583	missense	27136	exon23			CTAGAACATCATT	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.2218G>A	3.37:g.108703606C>T	ENSP00000417282:p.Val740Ile	Somatic	47	0		WXS	Illumina HiSeq	Phase_I	33	12	NM_014429	0	0	0	0	0		Missense_Mutation	SNP	ENST00000483760.1	37		.	.	.	.	.	.	.	.	.	.	C	1.485	-0.556108	0.03967	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.05580	3.44;3.42	5.49	-3.41	0.04839	.	1.888090	0.02334	N	0.074205	T	0.04092	0.0114	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.41378	-0.9512	10	0.25751	T	0.34	3.2721	11.5425	0.50675	0.0:0.5909:0.0:0.4091	.	740;761	E7ERX1;Q86VD1	.;MORC1_HUMAN	I	761;740	ENSP00000232603:V761I;ENSP00000417282:V740I	ENSP00000232603:V761I	V	-	1	0	MORC1	110186296	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	-1.274000	0.02820	-0.729000	0.04875	0.655000	0.94253	GTT	.		0.363	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1		
PLOD2	5352	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	145803003	145803003	+	Silent	SNP	A	A	T			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr3:145803003A>T	ENST00000360060.3	-	11	1362	c.1185T>A	c.(1183-1185)gtT>gtA	p.V395V	PLOD2_ENST00000461497.1_Silent_p.V55V|PLOD2_ENST00000282903.5_Silent_p.V395V|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000494950.1_Silent_p.V340V	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	395					cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TTGTCAAAACAACATCTGCAT	0.284																																					p.V395V		.											.	PLOD2-92	0			c.T1185A						.						70.0	70.0	70.0					3																	145803003		2203	4297	6500	SO:0001819	synonymous_variant	5352	exon11			CAAAACAACATCT	U84573	CCDS3131.1, CCDS3132.1	3q24	2011-08-24	2005-01-04		ENSG00000152952	ENSG00000152952			9082	protein-coding gene	gene with protein product	"""lysyl hydroxlase 2"""	601865	"""procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2"""			9054364	Standard	XM_005247535		Approved	LH2	uc003evr.1	O00469	OTTHUMG00000159417	ENST00000360060.3:c.1185T>A	3.37:g.145803003A>T		Somatic	83	0		WXS	Illumina HiSeq	Phase_I	54	21	NM_182943	0	0	29	48	19	B3KWS3|Q59ED2|Q8N170	Silent	SNP	ENST00000360060.3	37	CCDS3131.1																																																																																			.		0.284	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355185.1	NM_000935	
TBL1XR1	79718	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	176767825	176767825	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr3:176767825T>C	ENST00000430069.1	-	7	921	c.662A>G	c.(661-663)gAt>gGt	p.D221G	TBL1XR1-AS1_ENST00000454723.2_RNA|TBL1XR1_ENST00000457928.2_Missense_Mutation_p.D221G			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	221					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			GCTTGGAACATCTTGCCCTCC	0.413																																					p.D221G		.											.	TBL1XR1-187	0			c.A662G						.						167.0	157.0	160.0					3																	176767825		2000	4151	6151	SO:0001583	missense	79718	exon7			GGAACATCTTGCC	AK022956	CCDS46961.1	3q26.33	2013-01-10	2008-01-17		ENSG00000177565	ENSG00000177565		"""WD repeat domain containing"""	29529	protein-coding gene	gene with protein product		608628	"""transducin (beta)-like 1X-linked receptor 1"""			11063877, 11931768	Standard	NM_024665		Approved	IRA1, FLJ12894, TBLR1, C21, DC42	uc003fix.4	Q9BZK7	OTTHUMG00000157140	ENST00000430069.1:c.662A>G	3.37:g.176767825T>C	ENSP00000405574:p.Asp221Gly	Somatic	54	0		WXS	Illumina HiSeq	Phase_I	50	27	NM_024665	0	0	14	29	15	D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1	Missense_Mutation	SNP	ENST00000430069.1	37	CCDS46961.1	.	.	.	.	.	.	.	.	.	.	T	17.84	3.486855	0.63962	.	.	ENSG00000177565	ENST00000430069;ENST00000457928;ENST00000536758	T;T	0.54279	0.58;0.58	5.23	5.23	0.72850	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.44350	0.1289	L	0.39514	1.22	0.80722	D	1	B	0.28933	0.228	B	0.29077	0.098	T	0.32508	-0.9904	10	0.23302	T	0.38	-8.7332	14.6231	0.68599	0.0:0.0:0.0:1.0	.	221	Q9BZK7	TBL1R_HUMAN	G	221;221;83	ENSP00000405574:D221G;ENSP00000413251:D221G	ENSP00000405574:D221G	D	-	2	0	TBL1XR1	178250519	1.000000	0.71417	0.971000	0.41717	0.936000	0.57629	8.031000	0.88826	2.100000	0.63781	0.533000	0.62120	GAT	.		0.413	TBL1XR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347587.3	NM_024665	
MAP3K13	9175	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	3	185191375	185191375	+	Silent	SNP	G	G	A			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr3:185191375G>A	ENST00000265026.3	+	11	2590	c.2256G>A	c.(2254-2256)ggG>ggA	p.G752G	MAP3K13_ENST00000535426.1_Silent_p.G608G|MAP3K13_ENST00000443863.1_Silent_p.G608G|MAP3K13_ENST00000446828.1_Silent_p.G545G|MAP3K13_ENST00000424227.1_Silent_p.G752G	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AGCCAGTGGGGAGGAGCCCTG	0.542																																					p.G752G		.											.	MAP3K13-548	0			c.G2256A						.						97.0	100.0	99.0					3																	185191375		2203	4300	6503	SO:0001819	synonymous_variant	9175	exon11			AGTGGGGAGGAGC	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.2256G>A	3.37:g.185191375G>A		Somatic	219	0		WXS	Illumina HiSeq	Phase_I	185	10	NM_004721	0	0	8	8	0		Silent	SNP	ENST00000265026.3	37	CCDS3270.1																																																																																			.		0.542	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721	
AHSG	197	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	186335047	186335047	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr3:186335047G>A	ENST00000273784.5	+	4	560	c.484G>A	c.(484-486)Gtg>Atg	p.V162M	AHSG_ENST00000411641.2_Missense_Mutation_p.V161M	NM_001622.2	NP_001613.2	P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	161	Cystatin fetuin-A-type 2. {ECO:0000255|PROSITE-ProRule:PRU00861}.			PLLAPLNDTRVVHAAKAALAAFNAQNNGSNFQL -> MVGW QEGANHKNGAGRSQKQEMAEKMVPEVASG (in Ref. 12; AAF69649). {ECO:0000305}.	acute-phase response (GO:0006953)|negative regulation of bone mineralization (GO:0030502)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|ossification (GO:0001503)|pinocytosis (GO:0006907)|positive regulation of phagocytosis (GO:0050766)|regulation of bone mineralization (GO:0030500)|regulation of inflammatory response (GO:0050727)|skeletal system development (GO:0001501)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|kinase inhibitor activity (GO:0019210)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		CACCAGGGTGGTGCACGCCGC	0.612											OREG0015968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.V161M		.											.	AHSG-90	0			c.G481A						.						71.0	68.0	69.0					3																	186335047		2203	4300	6503	SO:0001583	missense	197	exon4			AGGGTGGTGCACG	D67013, M16961	CCDS3278.1	3q27.3	2006-02-22			ENSG00000145192	ENSG00000145192			349	protein-coding gene	gene with protein product		138680				9322749, 7736783	Standard	NM_001622		Approved	FETUA, A2HS, HSGA	uc003fqk.4	P02765	OTTHUMG00000156605	ENST00000273784.5:c.484G>A	3.37:g.186335047G>A	ENSP00000273784:p.Val162Met	Somatic	164	0	2006	WXS	Illumina HiSeq	Phase_I	120	63	NM_001622	0	0	0	0	0	A8K9N6|B2R7G1|O14961|O14962|Q9P152	Missense_Mutation	SNP	ENST00000273784.5	37		.	.	.	.	.	.	.	.	.	.	g	16.33	3.091941	0.55968	.	.	ENSG00000145192	ENST00000411641;ENST00000541510;ENST00000273784	T;T	0.27720	1.65;1.65	5.61	2.7	0.31948	Proteinase inhibitor I25, cystatin (2);	0.536617	0.18379	N	0.143005	T	0.51398	0.1672	M	0.82323	2.585	0.30380	N	0.782048	D;D;D;D	0.76494	0.999;0.999;0.974;0.997	D;D;P;D	0.79108	0.983;0.992;0.842;0.985	T	0.52653	-0.8547	10	0.87932	D	0	-14.4644	4.9244	0.13885	0.1851:0.1755:0.6394:0.0	.	227;161;162;161	F5H0Q5;P02765;C9JV77;B7Z556	.;FETUA_HUMAN;.;.	M	161;227;162	ENSP00000393887:V161M;ENSP00000273784:V162M	ENSP00000273784:V162M	V	+	1	0	AHSG	187817741	0.998000	0.40836	1.000000	0.80357	0.460000	0.32559	0.737000	0.26144	1.513000	0.48852	0.561000	0.74099	GTG	.		0.612	AHSG-002	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000344762.1	NM_001622	
NELFA	7469	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	1985129	1985129	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr4:1985129C>T	ENST00000411638.2	-	11	1519	c.1504G>A	c.(1504-1506)Gtg>Atg	p.V502M	NELFA_ENST00000542778.1_Missense_Mutation_p.V367M|MIR943_ENST00000401286.1_RNA|NELFA_ENST00000382882.3_Missense_Mutation_p.V513M	NM_005663.4	NP_005654.3	Q9H3P2	NELFA_HUMAN	negative elongation factor complex member A	502					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)										ACTGTGTCCACCAGCATGGTT	0.592																																					p.V513M		.											.	.	0			c.G1537A						.						223.0	192.0	203.0					4																	1985129		2203	4300	6503	SO:0001583	missense	7469	exon11			TGTCCACCAGCAT	AF101434	CCDS3358.2	4p16.3	2013-01-31	2013-01-31	2013-01-31	ENSG00000185049	ENSG00000185049			12768	protein-coding gene	gene with protein product		606026	"""Wolf-Hirschhorn syndrome candidate 2"""	WHSC2		10409432	Standard	NM_005663		Approved	NELF-A	uc003gem.3	Q9H3P2	OTTHUMG00000089967	ENST00000411638.2:c.1504G>A	4.37:g.1985129C>T	ENSP00000399165:p.Val502Met	Somatic	255	0		WXS	Illumina HiSeq	Phase_I	180	81	NM_005663	0	0	17	37	20	A2A2T1|O95392	Missense_Mutation	SNP	ENST00000411638.2	37		.	.	.	.	.	.	.	.	.	.	C	31	5.095651	0.94197	.	.	ENSG00000185049	ENST00000382882;ENST00000416258;ENST00000542778;ENST00000411638	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.74696	0.3750	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78193	-0.2299	10	0.87932	D	0	-33.4962	18.8462	0.92208	0.0:1.0:0.0:0.0	.	502	Q9H3P2	NELFA_HUMAN	M	513;506;367;502	ENSP00000372335:V513M;ENSP00000387647:V506M;ENSP00000445757:V367M;ENSP00000399165:V502M	ENSP00000372335:V513M	V	-	1	0	WHSC2	1954927	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.720000	0.84759	2.466000	0.83321	0.462000	0.41574	GTG	.		0.592	NELFA-015	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473007.1	NM_005663	
COMMD8	54951	hgsc.bcm.edu;bcgsc.ca	37	4	47462163	47462163	+	Missense_Mutation	SNP	C	C	T	rs550666373		TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr4:47462163C>T	ENST00000381571.4	-	2	287	c.220G>A	c.(220-222)Gag>Aag	p.E74K		NM_017845.3	NP_060315.1	Q9NX08	COMD8_HUMAN	COMM domain containing 8	74										large_intestine(2)|lung(5)|prostate(1)	8						GAAGTTACCTCTTCATCAGGT	0.338													C|||	1	0.000199681	0.0	0.0	5008	,	,		16976	0.0		0.0	False		,,,				2504	0.001				p.E74K		.											.	COMMD8-90	0			c.G220A						.						94.0	98.0	97.0					4																	47462163		2203	4300	6503	SO:0001583	missense	54951	exon2			TTACCTCTTCATC	AY542163	CCDS3475.1	4p12	2008-02-05			ENSG00000169019	ENSG00000169019			26036	protein-coding gene	gene with protein product						15799966	Standard	NM_017845		Approved	FLJ20502	uc003gxi.3	Q9NX08	OTTHUMG00000099435	ENST00000381571.4:c.220G>A	4.37:g.47462163C>T	ENSP00000370984:p.Glu74Lys	Somatic	132	0		WXS	Illumina HiSeq	Phase_I	76	36	NM_017845	0	0	0	0	0	Q8WUR4|Q9HC15	Missense_Mutation	SNP	ENST00000381571.4	37	CCDS3475.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.835702	0.50951	.	.	ENSG00000169019	ENST00000381571	T	0.10382	2.88	5.48	4.45	0.53987	.	0.093678	0.64402	D	0.000001	T	0.12475	0.0303	L	0.54908	1.71	0.53688	D	0.999977	B	0.21688	0.059	B	0.21917	0.037	T	0.05305	-1.0893	10	0.26408	T	0.33	-13.9433	14.0881	0.64971	0.0:0.9117:0.0:0.0883	.	74	Q9NX08	COMD8_HUMAN	K	74	ENSP00000370984:E74K	ENSP00000370984:E74K	E	-	1	0	COMMD8	47156920	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	3.167000	0.50793	2.574000	0.86865	0.591000	0.81541	GAG	.		0.338	COMMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216898.2	NM_017845	
AASDH	132949	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	57204741	57204741	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr4:57204741A>G	ENST00000205214.6	-	15	3304	c.3124T>C	c.(3124-3126)Tct>Cct	p.S1042P	AASDH_ENST00000434343.2_Missense_Mutation_p.S557P|AASDH_ENST00000451613.1_3'UTR|AASDH_ENST00000513376.1_Missense_Mutation_p.S942P	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	1042					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				CCATCAGTAGATGCTGCTGCC	0.443																																					p.S1042P		.											.	AASDH-94	0			c.T3124C						.						83.0	78.0	80.0					4																	57204741		2203	4300	6503	SO:0001583	missense	132949	exon15			CAGTAGATGCTGC	AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"""Acyl-CoA synthetase family"""	23993	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 4"""	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.3124T>C	4.37:g.57204741A>G	ENSP00000205214:p.Ser1042Pro	Somatic	95	0		WXS	Illumina HiSeq	Phase_I	66	29	NM_181806	0	0	7	8	1	A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	ENST00000205214.6	37	CCDS3504.1	.	.	.	.	.	.	.	.	.	.	A	31	5.102080	0.94245	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000434343	T;T;T	0.58797	0.31;0.31;0.31	6.04	6.04	0.98038	Quinonprotein alcohol dehydrogenase-like (2);	0.000000	0.85682	D	0.000000	T	0.81592	0.4855	M	0.91196	3.185	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.85713	0.1320	10	0.87932	D	0	-12.0294	16.6275	0.84975	1.0:0.0:0.0:0.0	.	1042	Q4L235	ACSF4_HUMAN	P	1042;942;557	ENSP00000205214:S1042P;ENSP00000423760:S942P;ENSP00000392158:S557P	ENSP00000205214:S1042P	S	-	1	0	AASDH	56899498	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	7.532000	0.81985	2.330000	0.79161	0.529000	0.55759	TCT	.		0.443	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806	
TRMT10A	93587	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	100470297	100470297	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr4:100470297T>C	ENST00000273962.3	-	8	1280	c.968A>G	c.(967-969)aAg>aGg	p.K323R	TRMT10A_ENST00000394877.3_Missense_Mutation_p.K323R|TRMT10A_ENST00000394876.2_Missense_Mutation_p.K323R	NM_152292.4	NP_689505.1	Q8TBZ6	TM10A_HUMAN	tRNA methyltransferase 10 homolog A (S. cerevisiae)	323					magnesium ion homeostasis (GO:0010960)	extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)										CTTATCCTGCTTTTCTTCATG	0.408																																					p.K323R		.											.	.	0			c.A968G						.						229.0	204.0	212.0					4																	100470297		2203	4300	6503	SO:0001583	missense	93587	exon8			TCCTGCTTTTCTT	BC028373	CCDS3650.1	4q23	2012-06-28	2012-06-28	2012-06-28	ENSG00000145331	ENSG00000145331			28403	protein-coding gene	gene with protein product			"""RNA (guanine-9-) methyltransferase domain containing 2"""	RG9MTD2		12477932	Standard	NM_152292		Approved	MGC27034, TRM10	uc003hva.4	Q8TBZ6	OTTHUMG00000131025	ENST00000273962.3:c.968A>G	4.37:g.100470297T>C	ENSP00000273962:p.Lys323Arg	Somatic	171	0		WXS	Illumina HiSeq	Phase_I	154	83	NM_001134666	0	0	1	1	0	B2R8X7|Q9Y2T9	Missense_Mutation	SNP	ENST00000273962.3	37	CCDS3650.1	.	.	.	.	.	.	.	.	.	.	T	11.16	1.557204	0.27827	.	.	ENSG00000145331	ENST00000394877;ENST00000273962;ENST00000394876	T;T;T	0.18338	2.22;2.22;2.22	5.77	3.27	0.37495	.	2.001830	0.01754	N	0.030106	T	0.11024	0.0269	N	0.14661	0.345	0.09310	N	1	B	0.28713	0.22	B	0.21708	0.036	T	0.25779	-1.0122	10	0.16896	T	0.51	-3.9397	7.5405	0.27735	0.0:0.0782:0.1452:0.7766	.	323	Q8TBZ6	RG9D2_HUMAN	R	323	ENSP00000378343:K323R;ENSP00000273962:K323R;ENSP00000378342:K323R	ENSP00000273962:K323R	K	-	2	0	RG9MTD2	100689320	0.014000	0.17966	0.146000	0.22360	0.546000	0.35178	1.895000	0.39778	1.082000	0.41137	0.533000	0.62120	AAG	.		0.408	TRMT10A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253668.1	NM_152292	
TET2	54790	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	106156045	106156045	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr4:106156045T>A	ENST00000540549.1	+	3	1806	c.946T>A	c.(946-948)Ttt>Att	p.F316I	TET2_ENST00000545826.1_Missense_Mutation_p.F316I|TET2_ENST00000305737.2_Missense_Mutation_p.F316I|TET2_ENST00000380013.4_Missense_Mutation_p.F316I|TET2_ENST00000394764.1_Missense_Mutation_p.F316I|TET2_ENST00000413648.2_Missense_Mutation_p.F316I|TET2_ENST00000513237.1_Missense_Mutation_p.F337I			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	316					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TACCTGTTCCTTTCAGAAACC	0.453			"""Mis N, F"""		MDS																																p.F316I		.		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	.	TET2-4618	0			c.T946A						.						85.0	82.0	83.0					4																	106156045		2203	4300	6503	SO:0001583	missense	54790	exon3			TGTTCCTTTCAGA	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.946T>A	4.37:g.106156045T>A	ENSP00000442788:p.Phe316Ile	Somatic	92	0		WXS	Illumina HiSeq	Phase_I	60	36	NM_001127208	0	0	3	4	1	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	ENST00000540549.1	37	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	T	12.75	2.030078	0.35797	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648;ENST00000535110	T;T;T;T;T;T;T	0.04970	3.53;4.27;3.52;4.26;4.27;3.53;3.55	4.98	-0.249	0.13011	.	2.314700	0.02876	U	0.132326	T	0.06005	0.0156	L	0.29908	0.895	0.24527	N	0.994132	B;B;B	0.11235	0.002;0.002;0.004	B;B;B	0.12156	0.002;0.002;0.007	T	0.41538	-0.9503	10	0.66056	D	0.02	.	4.0271	0.09692	0.2106:0.5083:0.0:0.2811	.	337;316;316	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	I	316;316;316;337;316;316;316;316	ENSP00000306705:F316I;ENSP00000442788:F316I;ENSP00000442867:F316I;ENSP00000425443:F337I;ENSP00000369351:F316I;ENSP00000378245:F316I;ENSP00000391448:F316I	ENSP00000265149:F316I	F	+	1	0	TET2	106375494	0.211000	0.23529	0.867000	0.34043	0.171000	0.22731	0.357000	0.20199	-0.016000	0.14127	0.533000	0.62120	TTT	.		0.453	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628	
LARP1B	55132	hgsc.bcm.edu	37	4	128999004	128999004	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr4:128999004A>G	ENST00000326639.6	+	4	315	c.104A>G	c.(103-105)aAg>aGg	p.K35R	LARP1B_ENST00000441387.1_Missense_Mutation_p.K35R|LARP1B_ENST00000264584.5_Missense_Mutation_p.K35R|LARP1B_ENST00000394288.3_Missense_Mutation_p.K35R|LARP1B_ENST00000432347.2_Missense_Mutation_p.K35R|LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000427266.1_Missense_Mutation_p.K35R|LARP1B_ENST00000512292.1_Missense_Mutation_p.K35R	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	35						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						AAAGAAGAGAAGGTTGAAAAG	0.368																																					p.K35R		.											.	LARP1B-68	0			c.A104G						.						69.0	72.0	71.0					4																	128999004		2203	4300	6503	SO:0001583	missense	55132	exon4			AAGAGAAGGTTGA		CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"""La ribonucleoprotein domain containing"""	24704	protein-coding gene	gene with protein product			"""La ribonucleoprotein domain family, member 2"""	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.104A>G	4.37:g.128999004A>G	ENSP00000321997:p.Lys35Arg	Somatic	40	0		WXS	Illumina HiSeq	Phase_I	32	2	NM_032239	0	0	28	28	0	Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Missense_Mutation	SNP	ENST00000326639.6	37	CCDS3738.1	.	.	.	.	.	.	.	.	.	.	A	19.69	3.875510	0.72180	.	.	ENSG00000138709	ENST00000326639;ENST00000512292;ENST00000508819;ENST00000394288;ENST00000432347;ENST00000264584;ENST00000441387;ENST00000427266	T;T;T;T;T;T;T;T	0.49139	1.81;1.38;1.3;0.81;0.79;1.74;1.81;1.37	3.95	3.95	0.45737	.	0.569681	0.18331	N	0.144487	T	0.48484	0.1502	L	0.31752	0.955	0.80722	D	1	D;P;P;P	0.58620	0.983;0.859;0.859;0.859	P;B;B;B	0.55923	0.787;0.274;0.274;0.274	T	0.37753	-0.9692	10	0.32370	T	0.25	.	12.9379	0.58325	1.0:0.0:0.0:0.0	.	35;35;35;35	Q659C4;G3XAJ5;Q659C4-3;G3V0E9	LAR1B_HUMAN;.;.;.	R	35	ENSP00000321997:K35R;ENSP00000422850:K35R;ENSP00000427281:K35R;ENSP00000377829:K35R;ENSP00000390395:K35R;ENSP00000264584:K35R;ENSP00000396521:K35R;ENSP00000403586:K35R	ENSP00000264584:K35R	K	+	2	0	LARP1B	129218454	0.995000	0.38212	0.998000	0.56505	0.979000	0.70002	3.314000	0.51943	1.791000	0.52520	0.386000	0.25728	AAG	.		0.368	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257173.2	NM_018078	
SLC12A7	10723	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	1064225	1064225	+	Silent	SNP	C	C	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr5:1064225C>G	ENST00000264930.5	-	19	2623	c.2580G>C	c.(2578-2580)ctG>ctC	p.L860L	MIR4635_ENST00000583759.1_RNA	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	860					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GGAAGGGCAGCAGCATGAGCA	0.697																																					p.L860L		.											.	SLC12A7-138	0			c.G2580C						.						43.0	38.0	39.0					5																	1064225		2200	4296	6496	SO:0001819	synonymous_variant	10723	exon19			GGGCAGCAGCATG	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.2580G>C	5.37:g.1064225C>G		Somatic	32	0		WXS	Illumina HiSeq	Phase_I	40	19	NM_006598	0	0	72	147	75	A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Silent	SNP	ENST00000264930.5	37	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	C	7.240	0.601120	0.13939	.	.	ENSG00000113504	ENST00000513223	.	.	.	4.26	3.35	0.38373	.	.	.	.	.	T	0.54415	0.1857	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47761	-0.9092	4	.	.	.	.	5.8497	0.18685	0.2009:0.696:0.0:0.1031	.	.	.	.	P	218	.	.	A	-	1	0	SLC12A7	1117225	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	1.547000	0.36190	0.716000	0.32124	0.313000	0.20887	GCT	.		0.697	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598	
TNPO1	3842	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	72192301	72192301	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr5:72192301A>G	ENST00000337273.5	+	19	2586	c.2160A>G	c.(2158-2160)atA>atG	p.I720M	TNPO1_ENST00000523768.1_Missense_Mutation_p.I670M|TNPO1_ENST00000454282.1_Missense_Mutation_p.I670M|TNPO1_ENST00000506351.2_Missense_Mutation_p.I712M	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	720					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		TCATGCCAATATTGGGAACCA	0.338																																					p.I720M		.											.	TNPO1-228	0			c.A2160G						.						62.0	61.0	62.0					5																	72192301		2203	4300	6503	SO:0001583	missense	3842	exon19			GCCAATATTGGGA	U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"""Importins"""	6401	protein-coding gene	gene with protein product	"""importin 2"""	602901	"""karyopherin (importin) beta 2"""	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.2160A>G	5.37:g.72192301A>G	ENSP00000336712:p.Ile720Met	Somatic	99	0		WXS	Illumina HiSeq	Phase_I	60	22	NM_002270	0	0	47	86	39	B4DVC6|Q92957|Q92975	Missense_Mutation	SNP	ENST00000337273.5	37	CCDS43329.1	.	.	.	.	.	.	.	.	.	.	A	12.55	1.971943	0.34754	.	.	ENSG00000083312	ENST00000337273;ENST00000454282;ENST00000523768;ENST00000506351;ENST00000519220	T;T;T;T	0.34859	1.34;1.34;1.34;1.34	5.66	1.57	0.23409	Armadillo-like helical (1);Armadillo-type fold (1);	0.084050	0.85682	D	0.000000	T	0.40145	0.1105	M	0.84773	2.715	0.80722	D	1	B;B	0.21225	0.053;0.011	B;B	0.28232	0.087;0.029	T	0.29058	-1.0024	10	0.52906	T	0.07	-14.1628	6.2257	0.20706	0.3859:0.1164:0.0:0.4977	.	670;720	Q92973-3;Q92973	.;TNPO1_HUMAN	M	720;670;670;712;231	ENSP00000336712:I720M;ENSP00000398524:I670M;ENSP00000428899:I670M;ENSP00000425118:I712M	ENSP00000336712:I720M	I	+	3	3	TNPO1	72228057	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.854000	0.27791	0.371000	0.24564	-0.316000	0.08728	ATA	.		0.338	TNPO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000218577.3	NM_002270	
TCERG1	10915	hgsc.bcm.edu	37	5	145838583	145838583	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr5:145838583A>G	ENST00000296702.5	+	4	613	c.575A>G	c.(574-576)cAg>cGg	p.Q192R	TCERG1_ENST00000394421.2_Missense_Mutation_p.Q192R	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	192	Ala/Gln-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			gcgcaggctcaggcccaggcg	0.657																																					p.Q192R		.											.	TCERG1-92	0			c.A575G						.						39.0	39.0	39.0					5																	145838583		2202	4300	6502	SO:0001583	missense	10915	exon4			AGGCTCAGGCCCA	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.575A>G	5.37:g.145838583A>G	ENSP00000296702:p.Gln192Arg	Somatic	83	0		WXS	Illumina HiSeq	Phase_I	56	3	NM_006706	0	0	9	9	0	Q2NKN2|Q59EA1	Missense_Mutation	SNP	ENST00000296702.5	37	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	A	9.852	1.193875	0.22037	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.35421	1.31;1.31	3.67	3.67	0.42095	.	0.273564	0.34777	N	0.003698	T	0.20659	0.0497	L	0.38175	1.15	0.21897	N	0.999481	P;P;B	0.38110	0.618;0.58;0.444	B;B;B	0.24394	0.043;0.053;0.024	T	0.13176	-1.0519	10	0.28530	T	0.3	-3.8538	8.8675	0.35296	1.0:0.0:0.0:0.0	.	192;192;192	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	R	192	ENSP00000296702:Q192R;ENSP00000377943:Q192R	ENSP00000296702:Q192R	Q	+	2	0	TCERG1	145818776	0.971000	0.33674	0.987000	0.45799	0.570000	0.35934	0.988000	0.29616	1.665000	0.50811	0.260000	0.18958	CAG	.		0.657	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006	
SCGN	10590	hgsc.bcm.edu;broad.mit.edu	37	6	25701512	25701512	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr6:25701512A>T	ENST00000377961.2	+	11	948	c.780A>T	c.(778-780)aaA>aaT	p.K260N	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	260	EF-hand 6. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						AGGATGGAAAAATTCAGAAGT	0.483																																					p.K260N		.											.	SCGN-93	0			c.A780T						.						137.0	122.0	127.0					6																	25701512		2203	4300	6503	SO:0001583	missense	10590	exon11			TGGAAAAATTCAG	BC000336	CCDS4561.1	6p22.3-p22.1	2013-01-10			ENSG00000079689	ENSG00000079689		"""EF-hand domain containing"""	16941	protein-coding gene	gene with protein product	"""calbindin-like"""	609202				10811645	Standard	NM_006998		Approved	SECRET, DJ501N12.8, SEGN, CALBL	uc003nfb.3	O76038	OTTHUMG00000014409	ENST00000377961.2:c.780A>T	6.37:g.25701512A>T	ENSP00000367197:p.Lys260Asn	Somatic	141	0		WXS	Illumina HiSeq	Phase_I	106	9	NM_006998	0	0	11	13	2	A8K0B2|Q5VV44|Q96QV7|Q9UJF6	Missense_Mutation	SNP	ENST00000377961.2	37	CCDS4561.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.222783	0.79464	.	.	ENSG00000079689	ENST00000377961	T	0.56103	0.48	5.43	1.84	0.25277	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.58821	0.2149	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.62248	-0.6894	10	0.87932	D	0	.	7.8814	0.29624	0.7455:0.0:0.2545:0.0	.	260	O76038	SEGN_HUMAN	N	260	ENSP00000367197:K260N	ENSP00000367197:K260N	K	+	3	2	SCGN	25809491	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.257000	0.32932	0.372000	0.24591	0.533000	0.62120	AAA	.		0.483	SCGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040067.1		
TRAF3IP2	10758	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	111912700	111912700	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr6:111912700G>T	ENST00000340026.6	-	3	1211	c.617C>A	c.(616-618)aCg>aAg	p.T206K	TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.T197K|TRAF3IP2_ENST00000392556.4_5'UTR|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000368761.5_Missense_Mutation_p.T197K			O43734	CIKS_HUMAN	TRAF3 interacting protein 2	206	Mediates interaction with TRAF6.				B cell apoptotic process (GO:0001783)|humoral immune response (GO:0006959)|immunoglobulin secretion (GO:0048305)|intracellular signal transduction (GO:0035556)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)					central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		ATCATATCCCGTGTCTATGGT	0.627																																					p.T197K		.											.	TRAF3IP2-228	0			c.C590A						.						61.0	62.0	62.0					6																	111912700		2203	4300	6503	SO:0001583	missense	10758	exon2			TATCCCGTGTCTA	AF136405	CCDS5093.1, CCDS55049.1, CCDS55050.1	6q21	2008-09-05	2002-06-20	2005-04-13	ENSG00000056972	ENSG00000056972			1343	protein-coding gene	gene with protein product		607043	"""chromosome 6 open reading frame 5"", ""chromosome 6 open reading frame 2"""	C6orf4, C6orf5, C6orf6, C6orf2		10962033, 10962024	Standard	NR_028338		Approved	DKFZP586G0522, ACT1, CIKS	uc003pvf.4	O43734	OTTHUMG00000015379	ENST00000340026.6:c.617C>A	6.37:g.111912700G>T	ENSP00000345984:p.Thr206Lys	Somatic	145	0		WXS	Illumina HiSeq	Phase_I	107	12	NM_147686	0	0	15	16	1	B2RAY9|E1P555|Q5R3A3|Q7Z6Q1|Q7Z6Q2|Q7Z6Q3|Q9H5W2|Q9H6Y3|Q9NS14|Q9UG72	Missense_Mutation	SNP	ENST00000340026.6	37		.	.	.	.	.	.	.	.	.	.	G	18.22	3.576782	0.65878	.	.	ENSG00000056972	ENST00000392555;ENST00000368761;ENST00000340026;ENST00000359831	T;T;T	0.37584	1.2;1.2;1.19	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.49201	0.1543	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76071	0.97;0.987;0.97	T	0.52011	-0.8632	10	0.87932	D	0	-10.0022	12.3995	0.55404	0.0771:0.0:0.9229:0.0	.	206;197;197	O43734;O43734-2;Q7Z6Q1	CIKS_HUMAN;.;.	K	206;197;206;197	ENSP00000357750:T197K;ENSP00000345984:T206K;ENSP00000352889:T197K	ENSP00000345984:T206K	T	-	2	0	TRAF3IP2	112019393	1.000000	0.71417	0.988000	0.46212	0.642000	0.38348	3.685000	0.54678	2.702000	0.92279	0.555000	0.69702	ACG	.		0.627	TRAF3IP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000041841.2		
POM121	9883	hgsc.bcm.edu;broad.mit.edu	37	7	72416770	72416770	+	Silent	SNP	G	G	A			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr7:72416770G>A	ENST00000434423.2	+	13	3747	c.3747G>A	c.(3745-3747)aaG>aaA	p.K1249K	NSUN5P2_ENST00000388955.4_RNA|POM121_ENST00000446813.1_Intron|POM121_ENST00000395270.1_Intron|POM121_ENST00000358357.3_Silent_p.K984K|POM121_ENST00000257622.4_Silent_p.K984K			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1249	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CCCGCAAAAAGTAGCCTTTGT	0.592																																					p.K984K		.											.	POM121-226	0			c.G2952A						.						27.0	28.0	28.0					7																	72416770		2203	4295	6498	SO:0001819	synonymous_variant	9883	exon13			CAAAAAGTAGCCT	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.3747G>A	7.37:g.72416770G>A		Somatic	106	1		WXS	Illumina HiSeq	Phase_I	108	26	NM_172020	0	0	117	142	25	A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Silent	SNP	ENST00000434423.2	37																																																																																				.		0.592	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1		
PCLO	27445	bcgsc.ca	37	7	82784463	82784463	+	Silent	SNP	C	C	T			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr7:82784463C>T	ENST00000333891.9	-	2	1831	c.1494G>A	c.(1492-1494)aaG>aaA	p.K498K	PCLO_ENST00000423517.2_Silent_p.K498K	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAGATGGGGGCTTTGCTGAGC	0.607																																					p.K498K													.	PCLO-29	0			c.G1494A						.						97.0	106.0	103.0					7																	82784463		1950	4134	6084	SO:0001819	synonymous_variant	27445	exon2			TGGGGGCTTTGCT	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.1494G>A	7.37:g.82784463C>T		Somatic	290	9		WXS	Illumina HiSeq	Phase_1	357	108	NM_014510	0	0	8	12	4		Silent	SNP	ENST00000333891.9	37	CCDS47630.1																																																																																			.		0.607	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
PDIA4	9601	broad.mit.edu	37	7	148702375	148702375	+	Silent	SNP	C	C	T			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr7:148702375C>T	ENST00000286091.4	-	9	1612	c.1380G>A	c.(1378-1380)ggG>ggA	p.G460G		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	460					cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			CCTTCACCTCCCCAGCATAGT	0.572											OREG0018420	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G460G													.	PDIA4-524	0			c.G1380A						.						196.0	163.0	174.0					7																	148702375		2203	4300	6503	SO:0001819	synonymous_variant	9601	exon9			CACCTCCCCAGCA	BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"""Protein disulfide isomerases"""	30167	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 4"""			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.1380G>A	7.37:g.148702375C>T		Somatic	289	0	1719	WXS	Illumina HiSeq	Phase_I	299	9	NM_004911	0	0	311	322	11	A8K4K6|Q549T6	Silent	SNP	ENST00000286091.4	37	CCDS5893.1																																																																																			.		0.572	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317077.1	NM_004911	
LPL	4023	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	19816813	19816813	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr8:19816813G>C	ENST00000311322.8	+	7	1531	c.1061G>C	c.(1060-1062)aGt>aCt	p.S354T		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	354	Heparin-binding. {ECO:0000250}.|PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	GGGACTGAGAGTGAAACCCAT	0.453																																					p.S354T		.											.	LPL-92	0			c.G1061C						.						111.0	99.0	103.0					8																	19816813		2203	4300	6503	SO:0001583	missense	4023	exon7			CTGAGAGTGAAAC		CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.1061G>C	8.37:g.19816813G>C	ENSP00000309757:p.Ser354Thr	Somatic	62	0		WXS	Illumina HiSeq	Phase_I	61	26	NM_000237	0	0	10	14	4	B2R5T9|Q16282|Q16283|Q96FC4	Missense_Mutation	SNP	ENST00000311322.8	37	CCDS6012.1	.	.	.	.	.	.	.	.	.	.	G	0.380	-0.928995	0.02359	.	.	ENSG00000175445	ENST00000311322;ENST00000535763	T	0.62364	0.03	5.93	0.818	0.18778	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	6.232250	0.00166	N	0.000000	T	0.45776	0.1359	N	0.19112	0.55	0.21675	N	0.999596	B	0.02656	0.0	B	0.08055	0.003	T	0.13980	-1.0489	8	.	.	.	-1.2704	4.6754	0.12710	0.3185:0.2811:0.4004:0.0	.	354	P06858	LIPL_HUMAN	T	354;340	ENSP00000309757:S354T	.	S	+	2	0	LPL	19861093	0.007000	0.16637	0.000000	0.03702	0.149000	0.21700	0.725000	0.25970	-0.125000	0.11703	0.643000	0.83706	AGT	.		0.453	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089113.3		
PLEKHA2	59339	broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	38810172	38810172	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr8:38810172C>A	ENST00000521746.1	+	8	886	c.652C>A	c.(652-654)Cgc>Agc	p.R218S	PLEKHA2_ENST00000420274.1_Missense_Mutation_p.R218S|PLEKHA2_ENST00000388745.4_3'UTR			Q9HB19	PKHA2_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2	218	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of cell-matrix adhesion (GO:0001954)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			CTGGAAACGTCGCTTCTTTGC	0.468																																					p.R218S													.	.	0			c.C652A						.						98.0	88.0	91.0					8																	38810172		1970	4153	6123	SO:0001583	missense	59339	exon8			AAACGTCGCTTCT	AF286164	CCDS75732.1	8p11.21	2013-01-10	2002-01-14			ENSG00000169499		"""Pleckstrin homology (PH) domain containing"""	14336	protein-coding gene	gene with protein product	"""tandem PH Domain containing protein-2"""	607773	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 2"""			11001876	Standard	NM_021623		Approved	TAPP2	uc003xmi.4	Q9HB19		ENST00000521746.1:c.652C>A	8.37:g.38810172C>A	ENSP00000430938:p.Arg218Ser	Somatic	46	0		WXS	Illumina HiSeq	Phase_I	37	8	NM_021623	0	0	23	42	19		Missense_Mutation	SNP	ENST00000521746.1	37		.	.	.	.	.	.	.	.	.	.	C	23.7	4.450211	0.84101	.	.	ENSG00000169499	ENST00000521746;ENST00000420274;ENST00000535929	T;T	0.26067	1.76;1.76	5.94	5.07	0.68467	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.66781	0.2824	H	0.98629	4.285	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.79455	-0.1796	10	0.87932	D	0	.	12.5681	0.56320	0.0:0.9221:0.0:0.0779	.	218;218	Q9HB19;A8K727	PKHA2_HUMAN;.	S	218;218;168	ENSP00000430938:R218S;ENSP00000393860:R218S	ENSP00000393860:R218S	R	+	1	0	PLEKHA2	38929329	0.995000	0.38212	0.997000	0.53966	0.995000	0.86356	3.595000	0.54016	1.522000	0.49001	0.650000	0.86243	CGC	.		0.468	PLEKHA2-002	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000377068.1	NM_021623	
NBN	4683	broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	90960111	90960111	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr8:90960111C>T	ENST00000265433.3	-	12	2009	c.1855G>A	c.(1855-1857)Gaa>Aaa	p.E619K	NBN_ENST00000409330.1_Missense_Mutation_p.E537K	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	619					blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TTCCCAATTTCATTTTCTTGC	0.299								Homologous recombination																													p.E619K													.	NBN-1395	0			c.G1855A						.						63.0	57.0	59.0					8																	90960111		2197	4291	6488	SO:0001583	missense	4683	exon12			CAATTTCATTTTC	AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"""Nijmegen breakage syndrome 1 (nibrin)"""	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.1855G>A	8.37:g.90960111C>T	ENSP00000265433:p.Glu619Lys	Somatic	20	0		WXS	Illumina HiSeq	Phase_I	8	4	NM_002485	0	0	0	0	0	B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Missense_Mutation	SNP	ENST00000265433.3	37	CCDS6249.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.628275	0.46944	.	.	ENSG00000104320	ENST00000265433;ENST00000409330	T;T	0.59906	2.08;0.23	5.12	5.12	0.69794	.	0.604049	0.16593	N	0.207679	T	0.46229	0.1382	L	0.29908	0.895	0.48830	D	0.999714	P;B	0.35208	0.49;0.142	B;B	0.28011	0.085;0.037	T	0.53301	-0.8458	10	0.87932	D	0	-19.514	16.0643	0.80861	0.0:1.0:0.0:0.0	.	619;619	A6H8Y5;O60934	.;NBN_HUMAN	K	619;537	ENSP00000265433:E619K;ENSP00000386924:E537K	ENSP00000265433:E619K	E	-	1	0	NBN	91029287	1.000000	0.71417	0.980000	0.43619	0.504000	0.33889	1.462000	0.35266	2.375000	0.81037	0.591000	0.81541	GAA	.		0.299	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3	NM_001024688	
EMC2	9694	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	109462083	109462083	+	Silent	SNP	A	A	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr8:109462083A>G	ENST00000220853.3	+	2	107	c.72A>G	c.(70-72)gaA>gaG	p.E24E		NM_014673.3	NP_055488.1	Q15006	EMC2_HUMAN	ER membrane protein complex subunit 2	24						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|ER membrane protein complex (GO:0072546)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											AATGGAGAGAAGAAAACTCAA	0.318																																					p.E24E		.											.	.	0			c.A72G						.						97.0	112.0	107.0					8																	109462083		2203	4298	6501	SO:0001819	synonymous_variant	9694	exon2			GAGAGAAGAAAAC	BC021667	CCDS6309.1	8q23.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000104412	ENSG00000104412			28963	protein-coding gene	gene with protein product		607722	"""tetratricopeptide repeat domain 35"""	KIAA0103, TTC35		7788527, 22119785	Standard	NM_014673		Approved		uc003ymw.1	Q15006	OTTHUMG00000164873	ENST00000220853.3:c.72A>G	8.37:g.109462083A>G		Somatic	119	0		WXS	Illumina HiSeq	Phase_I	82	36	NM_014673	0	0	18	31	13	Q8WUE1	Silent	SNP	ENST00000220853.3	37	CCDS6309.1																																																																																			.		0.318	EMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380717.1	NM_014673	
AQP7	364	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	33385805	33385805	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr9:33385805G>T	ENST00000537089.1	-	6	627	c.309C>A	c.(307-309)aaC>aaA	p.N103K	AQP7_ENST00000539936.1_Missense_Mutation_p.N195K|AQP7_ENST00000541274.1_Missense_Mutation_p.P64T|AQP7_ENST00000377425.4_Missense_Mutation_p.N138K			O14520	AQP7_HUMAN	aquaporin 7	195					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		GCAGTGCTGGGTTGTTCTCCT	0.617																																					p.N195K		.											.	AQP7-90	0			c.C585A						.						121.0	106.0	111.0					9																	33385805		2203	4300	6503	SO:0001583	missense	364	exon7			TGCTGGGTTGTTC	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000537089.1:c.309C>A	9.37:g.33385805G>T	ENSP00000441619:p.Asn103Lys	Somatic	198	0		WXS	Illumina HiSeq	Phase_I	130	39	NM_001170	0	0	38	64	26	Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000537089.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	0.022|0.022	-1.416408|-1.416408	0.01136|0.01136	.|.	.|.	ENSG00000165269|ENSG00000165269	ENST00000537089;ENST00000379507;ENST00000447660;ENST00000297988;ENST00000377425;ENST00000439678;ENST00000379506;ENST00000539936;ENST00000379503|ENST00000541274	D;D;D;D;D;D;D;D;D|T	0.84660|0.48836	-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88|0.8	4.77|4.77	0.809|0.809	0.18725|0.18725	Aquaporin-like (2);|.	0.423208|.	0.29383|.	N|.	0.012320|.	T|T	0.37758|0.37758	0.1015|0.1015	L|L	0.48642|0.48642	1.525|1.525	0.09310|0.09310	N|N	1|1	B;B;B;B|B	0.25007|0.27286	0.022;0.049;0.022;0.116|0.174	B;B;B;B|B	0.25987|0.26310	0.038;0.063;0.038;0.065|0.068	T|T	0.24584|0.24584	-1.0156|-1.0156	10|9	0.16896|0.38643	T|T	0.51|0.18	-15.7477|-15.7477	7.845|7.845	0.29421|0.29421	0.3724:0.0:0.6276:0.0|0.3724:0.0:0.6276:0.0	.|.	194;195;138;195|64	Q5T5M0;B7Z4U2;Q6P5T0;O14520|B7Z7F6	.;.;.;AQP7_HUMAN|.	K|T	103;194;63;195;138;103;194;195;131|64	ENSP00000441619:N103K;ENSP00000368821:N194K;ENSP00000412868:N63K;ENSP00000297988:N195K;ENSP00000396111:N138K;ENSP00000410138:N103K;ENSP00000368820:N194K;ENSP00000439534:N195K;ENSP00000368817:N131K|ENSP00000438860:P64T	ENSP00000297988:N195K|ENSP00000438860:P64T	N|P	-|-	3|1	2|0	AQP7|AQP7	33375805|33375805	0.000000|0.000000	0.05858|0.05858	0.060000|0.060000	0.19600|0.19600	0.083000|0.083000	0.17756|0.17756	-0.334000|-0.334000	0.07883|0.07883	-0.018000|-0.018000	0.14079|0.14079	0.454000|0.454000	0.30748|0.30748	AAC|CCC	.		0.617	AQP7-202	KNOWN	basic	protein_coding	protein_coding		NM_001170	
C10orf71	118461	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	10	50530974	50530974	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr10:50530974delG	ENST00000374144.3	+	3	672	c.384delG	c.(382-384)gtgfs	p.V128fs	C10orf71_ENST00000323868.4_Frame_Shift_Del_p.V128fs			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	128										endometrium(1)	1						GACTGGAGGTGCCAGTTTCCG	0.547																																					p.V128fs		.											.	C10orf71-90	0			c.384delG						.						81.0	95.0	91.0					10																	50530974		1948	4145	6093	SO:0001589	frameshift_variant	118461	exon3			.	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.384delG	10.37:g.50530974delG	ENSP00000363259:p.Val128fs	Somatic	165	0		WXS	Illumina HiSeq	Phase_I	122	44	NM_001135196	0	0	0	0	0	A0AVL8	Frame_Shift_Del	DEL	ENST00000374144.3	37	CCDS44387.1																																																																																			.		0.547	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459	
HNRNPC	3183	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	14	21679712	21679713	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	AT	AT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr14:21679712_21679713delAT	ENST00000320084.7	-	7	928_929	c.689_690delAT	c.(688-690)aatfs	p.N230fs	HNRNPC_ENST00000420743.2_Frame_Shift_Del_p.N230fs|HNRNPC_ENST00000336053.6_Frame_Shift_Del_p.N217fs|HNRNPC_ENST00000554455.1_Frame_Shift_Del_p.N230fs|HNRNPC_ENST00000555309.1_Frame_Shift_Del_p.N229fs|HNRNPC_ENST00000556628.1_Frame_Shift_Del_p.N150fs|HNRNPC_ENST00000554969.1_Frame_Shift_Del_p.N217fs|HNRNPC_ENST00000553300.1_Frame_Shift_Del_p.N217fs|HNRNPC_ENST00000449098.1_Frame_Shift_Del_p.N217fs|HNRNPC_ENST00000553753.1_Frame_Shift_Del_p.N217fs|HNRNPC_ENST00000555883.1_Frame_Shift_Del_p.N174fs|HNRNPC_ENST00000430246.2_Frame_Shift_Del_p.N217fs|HNRNPC_ENST00000556513.1_Intron|HNRNPC_ENST00000557201.1_Frame_Shift_Del_p.N230fs|HNRNPC_ENST00000556142.1_Intron|HNRNPC_ENST00000555914.1_Frame_Shift_Del_p.N216fs|HNRNPC_ENST00000556897.1_Frame_Shift_Del_p.N217fs	NM_001077442.1	NP_001070910.1	P07910	HNRPC_HUMAN	heterogeneous nuclear ribonucleoprotein C (C1/C2)	230	Asp/Glu-rich (acidic).				3'-UTR-mediated mRNA stabilization (GO:0070935)|ATP-dependent chromatin remodeling (GO:0043044)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|spliceosomal complex (GO:0005681)	identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleosomal DNA binding (GO:0031492)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		CTGACTTATCATTCTTCATCTC	0.505																																					p.230_230del	NSCLC(108;607 2244 12726 38757)	.											.	HNRNPC-90	0			c.689_690del						.																																			SO:0001589	frameshift_variant	3183	exon8			.		CCDS41915.1, CCDS45079.1	14q11.2	2013-06-12		2007-08-16	ENSG00000092199	ENSG00000092199		"""RNA binding motif (RRM) containing"""	5035	protein-coding gene	gene with protein product		164020		HNRPC		3457372	Standard	NM_031314		Approved	hnRNPC	uc001waa.3	P07910	OTTHUMG00000170757	ENST00000320084.7:c.689_690delAT	14.37:g.21679712_21679713delAT	ENSP00000319690:p.Asn230fs	Somatic	22	0		WXS	Illumina HiSeq	Phase_I	31	16	NM_031314	0	0	0	0	0	D3DS19|D3DS22|P22628|Q53EX2|Q59FD3|Q5FWE8|Q86SF8|Q86U45|Q96HK7|Q96HM4|Q96IY5|Q9BTS3	Frame_Shift_Del	DEL	ENST00000320084.7	37	CCDS41915.1																																																																																			.		0.505	HNRNPC-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410235.1		
SPPL2C	162540	broad.mit.edu;bcgsc.ca	37	17	43922606	43922611	+	In_Frame_Del	DEL	GGCCAA	GGCCAA	-			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	GGCCAA	GGCCAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr17:43922606_43922611delGGCCAA	ENST00000329196.5	+	1	351_356	c.334_339delGGCCAA	c.(334-339)ggccaadel	p.GQ112del	MAPT-AS1_ENST00000581125.1_RNA|MAPT-AS1_ENST00000579244.1_RNA|MAPT-AS1_ENST00000579599.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	SPP2C_HUMAN	signal peptide peptidase like 2C	112	PA.					endoplasmic reticulum membrane (GO:0005789)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)										GCTGGCTCAGGGCCAAGGTGCCCACG	0.68																																					p.112_113del													.	.	0			c.334_339del						.																																			SO:0001651	inframe_deletion	162540	exon1			GCTCAGGGCCAAG		CCDS32673.1	17q21.31	2014-02-12			ENSG00000185294	ENSG00000185294			28902	protein-coding gene	gene with protein product	"""intramembrane protease 5"""	608284				12139484	Standard	NM_175882		Approved	IMP5	uc010wka.2	Q8IUH8		ENST00000329196.5:c.334_339delGGCCAA	17.37:g.43922606_43922611delGGCCAA	ENSP00000332488:p.Gly112_Gln113del	Somatic	99	0		WXS	Illumina HiSeq	Phase_I	94	10	NM_175882	0	0	0	0	0	Q8TC67|Q8WVZ6	In_Frame_Del	DEL	ENST00000329196.5	37	CCDS32673.1																																																																																			.		0.680	SPPL2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441156.1	NM_175882	
PLA2G6	8398	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	22	38536176	38536176	+	Splice_Site	DEL	G	G	-			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr22:38536176delG	ENST00000332509.3	-	5	793	c.610delC	c.(610-612)ctc>tc	p.L205fs	PLA2G6_ENST00000402064.1_Splice_Site_p.L205fs|PLA2G6_ENST00000335539.3_Splice_Site_p.L205fs|PLA2G6_ENST00000436218.1_Splice_Site_p.S143fs	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	205					cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)			breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	CTTCCAAGGAGCTGATGAAAG	0.567																																					p.L204fs		.											.	PLA2G6-91	0			c.610delC						.						45.0	43.0	44.0					22																	38536176		2203	4300	6503	SO:0001630	splice_region_variant	8398	exon5			.	AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	3.1.1.4	"""Patatin-like phospholipase domain containing"", ""Parkinson disease"", ""Ankyrin repeat domain containing"""	9039	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 2"""	603604				9417066, 16799181, 19029121	Standard	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.610-1C>-	22.37:g.38536176delG		Somatic	83	0		WXS	Illumina HiSeq	Phase_I	37	30	NM_003560	0	0	0	0	0	A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Frame_Shift_Del	DEL	ENST00000332509.3	37	CCDS13967.1																																																																																			.		0.567	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1	NM_001004426	Frame_Shift_Del
COMMD8	54951	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	4	47462160	47462160	+	Splice_Site	DEL	C	C	-			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr4:47462160delC	ENST00000381571.4	-	2	290		c.e2+1			NM_017845.3	NP_060315.1	Q9NX08	COMD8_HUMAN	COMM domain containing 8											large_intestine(2)|lung(5)|prostate(1)	8						AGAGAAGTTACCTCTTCATCA	0.338																																					.		.											.	COMMD8-90	0			c.222+1G>-						.						93.0	97.0	96.0					4																	47462160		2203	4300	6503	SO:0001630	splice_region_variant	54951	exon3			.	AY542163	CCDS3475.1	4p12	2008-02-05			ENSG00000169019	ENSG00000169019			26036	protein-coding gene	gene with protein product						15799966	Standard	NM_017845		Approved	FLJ20502	uc003gxi.3	Q9NX08	OTTHUMG00000099435	ENST00000381571.4:c.222+1G>-	4.37:g.47462160delC		Somatic	129	0		WXS	Illumina HiSeq	Phase_I	72	33	NM_017845	0	0	0	0	0	Q8WUR4|Q9HC15	Splice_Site	DEL	ENST00000381571.4	37	CCDS3475.1																																																																																			.		0.338	COMMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216898.2	NM_017845	Intron
COMMD8	54951	hgsc.bcm.edu	37	4	47462161	47462163	+	Splice_Site	DEL	CTC	CTC	-	rs550666373		TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	CTC	CTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr4:47462161_47462163delCTC	ENST00000381571.4	-	2	287_289	c.220_222delGAG	c.(220-222)gagdel	p.E74del		NM_017845.3	NP_060315.1	Q9NX08	COMD8_HUMAN	COMM domain containing 8	74										large_intestine(2)|lung(5)|prostate(1)	8						GAGAAGTTACCTCTTCATCAGGT	0.335																																					p.74_74del		.											.	COMMD8-90	0			c.220_222del						.																																			SO:0001630	splice_region_variant	54951	exon2			.	AY542163	CCDS3475.1	4p12	2008-02-05			ENSG00000169019	ENSG00000169019			26036	protein-coding gene	gene with protein product						15799966	Standard	NM_017845		Approved	FLJ20502	uc003gxi.3	Q9NX08	OTTHUMG00000099435	ENST00000381571.4:c.222+1GAG>-	4.37:g.47462161_47462163delCTC		Somatic	131	0		WXS	Illumina HiSeq	Phase_I	77	21	NM_017845	0	0	0	0	0	Q8WUR4|Q9HC15	In_Frame_Del	DEL	ENST00000381571.4	37	CCDS3475.1																																																																																			.		0.335	COMMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216898.2	NM_017845	In_Frame_Del
CEP135	9662	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	4	56847415	56847423	+	In_Frame_Del	DEL	TAAGAAAGG	TAAGAAAGG	-			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	TAAGAAAGG	TAAGAAAGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr4:56847415_56847423delTAAGAAAGG	ENST00000257287.4	+	13	1773_1781	c.1649_1657delTAAGAAAGG	c.(1648-1659)ctaagaaaggaa>caa	p.550_553LRKE>Q		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	550					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					TTATCTGCCCTAAGAAAGGAATCCACCCA	0.321																																					p.550_553del		.											.	CEP135-94	0			c.1649_1657del						.																																			SO:0001651	inframe_deletion	9662	exon13			.	AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.1649_1657delTAAGAAAGG	4.37:g.56847415_56847423delTAAGAAAGG	ENSP00000257287:p.Leu550_Glu553delinsGln	Somatic	103	0		WXS	Illumina HiSeq	Phase_I	56	19	NM_025009	0	0	0	0	0	B2RMY0|O75130|Q58F25|Q9H8H7	In_Frame_Del	DEL	ENST00000257287.4	37	CCDS33986.1																																																																																			.		0.321	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009	
ZDHHC2	51201	broad.mit.edu	37	8	17043867	17043867	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr8:17043867delT	ENST00000262096.8	+	3	880	c.185delT	c.(184-186)cttfs	p.L62fs		NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2	62					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|recycling endosome membrane (GO:0055038)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		TATCATCTACTTTTTGCAATG	0.284																																					p.L62fs													.	.	0			c.185delT						.						125.0	110.0	114.0					8																	17043867		1830	4082	5912	SO:0001589	frameshift_variant	51201	exon3			ATCTACTTTTTGC	AB023584	CCDS47810.1	8p22	2008-05-15			ENSG00000104219	ENSG00000104219		"""Zinc fingers, DHHC-type"""	18469	protein-coding gene	gene with protein product						10918388	Standard	NM_016353		Approved	ZNF372	uc003wxe.3	Q9UIJ5	OTTHUMG00000163860	ENST00000262096.8:c.185delT	8.37:g.17043867delT	ENSP00000262096:p.Leu62fs	Somatic	16	0		WXS	Illumina HiSeq	Phase_I	17	9	NM_016353	0	0	0	0	0	D3DSP5	Frame_Shift_Del	DEL	ENST00000262096.8	37	CCDS47810.1																																																																																			.		0.284	ZDHHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376014.2	NM_016353	
ATL3	25923	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	11	63403801	63403802	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr11:63403801_63403802insA	ENST00000398868.3	-	9	1131_1132	c.855_856insT	c.(853-858)attgctfs	p.A286fs	ATL3_ENST00000332645.4_Frame_Shift_Ins_p.A313fs|ATL3_ENST00000538786.1_Frame_Shift_Ins_p.A268fs|RP11-697H9.2_ENST00000540307.1_RNA	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN	atlastin GTPase 3	286	GB1/RHD3-type G.				endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						AATTCACCAGCAATATCTGTTC	0.416											OREG0021036	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A286fs		.											.	ATL3-69	0			c.856_857insT						.																																			SO:0001589	frameshift_variant	25923	exon9			.		CCDS41663.1, CCDS73309.1	11q13.1	2008-09-17			ENSG00000184743	ENSG00000184743			24526	protein-coding gene	gene with protein product		609369				18270207	Standard	XM_005273891		Approved	DKFZP564J0863	uc001nxk.1	Q6DD88	OTTHUMG00000167854	ENST00000398868.3:c.856dupT	11.37:g.63403803_63403803dupA	ENSP00000381844:p.Ala286fs	Somatic	135	0	1068	WXS	Illumina HiSeq	Phase_I	110	44	NM_015459	0	0	0	0	0	Q8N7W5|Q9H8Q5|Q9UFL1	Frame_Shift_Ins	INS	ENST00000398868.3	37	CCDS41663.1																																																																																			.		0.416	ATL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396637.1	NM_015459	
RP1	6101	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	8	55540098	55540099	+	Frame_Shift_Ins	INS	-	-	T	rs139588212|rs145115379		TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr8:55540098_55540099insT	ENST00000220676.1	+	4	3804_3805	c.3656_3657insT	c.(3655-3660)agtgttfs	p.V1220fs		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1220					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AACATTCAGAGTGTTCCTAAGT	0.446																																					p.S1219fs	Colon(91;1014 1389 7634 14542 40420)	.											.	RP1-102	0			c.3656_3657insT						.																																			SO:0001589	frameshift_variant	6101	exon4			.	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.3657dupT	8.37:g.55540099_55540099dupT	ENSP00000220676:p.Val1220fs	Somatic	139	0		WXS	Illumina HiSeq	Phase_I	123	58	NM_006269	0	0	0	0	0		Frame_Shift_Ins	INS	ENST00000220676.1	37	CCDS6160.1																																																																																			.		0.446	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269	
