#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
PLCH2	9651	broad.mit.edu	37	1	2426375	2426375	+	Silent	SNP	C	C	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr1:2426375C>T	ENST00000419816.2	+	12	2014	c.1740C>T	c.(1738-1740)ttC>ttT	p.F580F	PLCH2_ENST00000378486.3_Silent_p.F580F|PLCH2_ENST00000449969.1_Silent_p.F553F|PLCH2_ENST00000288766.5_Intron|RP3-395M20.2_ENST00000424657.1_RNA|RP3-395M20.3_ENST00000442305.1_RNA|PLCH2_ENST00000378488.3_Silent_p.F580F			O75038	PLCH2_HUMAN	phospholipase C, eta 2	580					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		TGGGAAGCTTCTCCAGGCGCA	0.687																																					p.F580F													.	PLCH2-229	0			c.C1740T						.						23.0	34.0	31.0					1																	2426375		2069	4185	6254	SO:0001819	synonymous_variant	9651	exon12			AAGCTTCTCCAGG	AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"""EF-hand domain containing"""	29037	protein-coding gene	gene with protein product		612836	"""phospholipase C-like 4"""	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.1740C>T	1.37:g.2426375C>T		Somatic	22	0		WXS	Illumina HiSeq	Phase_I	22	3	NM_014638	0	0	0	0	0	A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Silent	SNP	ENST00000419816.2	37																																																																																				.		0.687	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467514.1	NM_014638	
NPHP4	261734	broad.mit.edu	37	1	5927943	5927943	+	Missense_Mutation	SNP	G	G	C	rs139767853	byFrequency	TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr1:5927943G>C	ENST00000378156.4	-	24	3594	c.3329C>G	c.(3328-3330)gCg>gGg	p.A1110G	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	1110					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GCCACCACTCGCTCGGAACAA	0.607																																					p.A1110G													.	NPHP4-515	0			c.C3329G						.						47.0	56.0	53.0					1																	5927943		2159	4255	6414	SO:0001583	missense	261734	exon24			CCACTCGCTCGGA	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.3329C>G	1.37:g.5927943G>C	ENSP00000367398:p.Ala1110Gly	Somatic	134	8		WXS	Illumina HiSeq	Phase_I	178	19	NM_015102	0	0	6	6	0	Q8IWC0	Missense_Mutation	SNP	ENST00000378156.4	37	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	G	9.250	1.040526	0.19669	.	.	ENSG00000131697	ENST00000378156	T	0.68331	-0.32	5.57	-1.27	0.09347	.	0.553031	0.17272	N	0.180335	T	0.44912	0.1316	L	0.28740	0.885	0.09310	N	1	B;B	0.23058	0.079;0.007	B;B	0.22880	0.042;0.011	T	0.25984	-1.0116	10	0.13853	T	0.58	.	6.6143	0.22769	0.2804:0.3411:0.3785:0.0	.	52;1110	Q6ZSL3;O75161	.;NPHP4_HUMAN	G	1110	ENSP00000367398:A1110G	ENSP00000367398:A1110G	A	-	2	0	NPHP4	5850530	0.000000	0.05858	0.001000	0.08648	0.061000	0.15899	0.028000	0.13644	-0.214000	0.10078	-0.258000	0.10820	GCG	G|0.998;A|0.002		0.607	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2		
H6PD	9563	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	9324818	9324818	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr1:9324818A>G	ENST00000377403.2	+	5	2568	c.2266A>G	c.(2266-2268)Acg>Gcg	p.T756A	H6PD_ENST00000602477.1_Missense_Mutation_p.T767A	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	756	6-phosphogluconolactonase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		TGAGATCACCACGCTGGTGAG	0.637																																					p.T756A		.											.	H6PD-90	0			c.A2266G						.						33.0	30.0	31.0					1																	9324818		2203	4297	6500	SO:0001583	missense	9563	exon5			ATCACCACGCTGG	AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"""glucose dehyrogenase"""	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.2266A>G	1.37:g.9324818A>G	ENSP00000366620:p.Thr756Ala	Somatic	183	0		WXS	Illumina HiSeq	Phase_I	259	61	NM_004285	0	0	5	6	1	Q4TT33|Q66I35|Q68DT3	Missense_Mutation	SNP	ENST00000377403.2	37	CCDS101.1	.	.	.	.	.	.	.	.	.	.	A	0.018	-1.467516	0.01053	.	.	ENSG00000049239	ENST00000377403	T	0.39406	1.08	5.45	-10.9	0.00192	Glucosamine/galactosamine-6-phosphate isomerase (1);6-phosphogluconolactonase, DevB-type (1);	0.671970	0.15660	N	0.250971	T	0.16257	0.0391	N	0.11560	0.145	0.09310	N	1	B	0.28128	0.201	B	0.28385	0.089	T	0.14896	-1.0456	10	0.35671	T	0.21	-7.8807	9.3226	0.37973	0.6541:0.1684:0.1206:0.057	.	756	O95479	G6PE_HUMAN	A	756	ENSP00000366620:T756A	ENSP00000366620:T756A	T	+	1	0	H6PD	9247405	0.002000	0.14202	0.001000	0.08648	0.225000	0.24961	0.628000	0.24522	-3.386000	0.00174	-2.411000	0.00221	ACG	.		0.637	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2	NM_004285	
DHRS3	9249	broad.mit.edu;ucsc.edu	37	1	12628411	12628411	+	Silent	SNP	T	T	C			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr1:12628411T>C	ENST00000376223.2	-	6	1250	c.867A>G	c.(865-867)tcA>tcG	p.S289S	RNU6ATAC18P_ENST00000408413.1_RNA	NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	289					bone morphogenesis (GO:0060349)|cardiac septum morphogenesis (GO:0060411)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|phototransduction, visible light (GO:0007603)|regulation of ossification (GO:0030278)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|photoreceptor outer segment membrane (GO:0042622)	electron carrier activity (GO:0009055)|NADP-retinol dehydrogenase activity (GO:0052650)|nucleotide binding (GO:0000166)|retinol dehydrogenase activity (GO:0004745)			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	TGTAGGTTCCTGAGAATTTGT	0.537																																					p.S289S													.	DHRS3-91	0			c.A867G						.						213.0	187.0	195.0					1																	12628411		2203	4300	6503	SO:0001819	synonymous_variant	9249	exon6			GGTTCCTGAGAAT	AF061741	CCDS146.1	1p36.1	2011-09-20			ENSG00000162496	ENSG00000162496	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	17693	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 16C, member 1"""	612830				9705317, 12226107, 19027726	Standard	XM_005263533		Approved	retSDR1, Rsdr1, SDR1, RDH17, SDR16C1	uc001auc.3	O75911	OTTHUMG00000001885	ENST00000376223.2:c.867A>G	1.37:g.12628411T>C		Somatic	183	0		WXS	Illumina HiSeq	Phase_I	196	5	NM_004753	0	0	157	180	23	B2R7F3|Q5VUY3|Q6UY38|Q9BUC8	Silent	SNP	ENST00000376223.2	37	CCDS146.1																																																																																			.		0.537	DHRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005318.1	NM_004753	
C1orf228	339541	broad.mit.edu	37	1	45189860	45189860	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr1:45189860C>T	ENST00000458657.2	+	8	1098	c.791C>T	c.(790-792)gCg>gTg	p.A264V	C1orf228_ENST00000535358.1_Missense_Mutation_p.A264V|C1orf228_ENST00000444751.1_3'UTR|RNU5F-1_ENST00000362507.1_RNA			Q6PIY5	CA228_HUMAN	chromosome 1 open reading frame 228	264										central_nervous_system(1)	1						GGCCTCGTGGCGCTGCTGATA	0.627																																					p.A264V													.	.	0			c.C791T						.						100.0	95.0	97.0					1																	45189860		692	1591	2283	SO:0001583	missense	339541	exon7			TCGTGGCGCTGCT	AL122004, AY254217, BC026115	CCDS53311.1	1p34.1	2011-02-22	2009-03-17	2009-03-17	ENSG00000198520	ENSG00000198520			34345	protein-coding gene	gene with protein product			"""non-protein coding RNA 82"""	NCRNA00082		12477932	Standard	NM_001145636		Approved	MGC33556, p40	uc001cmf.2	Q6PIY5	OTTHUMG00000007834	ENST00000458657.2:c.791C>T	1.37:g.45189860C>T	ENSP00000420716:p.Ala264Val	Somatic	164	1		WXS	Illumina HiSeq	Phase_I	249	8	NM_001145636	0	0	0	0	0	A1KXE5	Missense_Mutation	SNP	ENST00000458657.2	37	CCDS53311.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.233518	0.58886	.	.	ENSG00000198520	ENST00000458657;ENST00000535358	T;T	0.48836	0.8;0.8	5.3	-7.86	0.01187	Armadillo-like helical (1);Armadillo-type fold (1);	0.916502	0.09176	N	0.838096	T	0.53286	0.1787	M	0.66939	2.045	0.09310	N	1	D	0.56035	0.974	P	0.49637	0.617	T	0.63765	-0.6563	10	0.54805	T	0.06	-16.156	19.8861	0.96913	0.8275:0.1725:0.0:0.0	.	264	Q6PIY5	CA228_HUMAN	V	264	ENSP00000420716:A264V;ENSP00000440524:A264V	ENSP00000420716:A264V	A	+	2	0	C1orf228	44962447	0.000000	0.05858	0.060000	0.19600	0.520000	0.34377	-2.150000	0.01290	-0.871000	0.04042	-1.166000	0.01754	GCG	.		0.627	C1orf228-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023125.2	NM_001145636	
SCP2	6342	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	53416459	53416459	+	Missense_Mutation	SNP	C	C	T	rs371605573		TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr1:53416459C>T	ENST00000371514.3	+	4	400	c.232C>T	c.(232-234)Cac>Tac	p.H78Y	SCP2_ENST00000371509.4_Intron|SCP2_ENST00000407246.2_Missense_Mutation_p.H54Y|SCP2_ENST00000528311.1_5'UTR|SCP2_ENST00000371513.5_Intron	NM_002979.4	NP_002970.2	Q9BX26	SYCP2_HUMAN	sterol carrier protein 2	0					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						GGCTATCTATCACAGTTTGGG	0.393																																					p.H78Y		.											.	SCP2-153	0			c.C232T						.						164.0	155.0	158.0					1																	53416459		2203	4300	6503	SO:0001583	missense	6342	exon4			ATCTATCACAGTT	M75884	CCDS572.1, CCDS30719.1, CCDS41338.1, CCDS44149.1, CCDS44150.1, CCDS53317.1, CCDS53318.1, CCDS53319.1	1p32	2010-08-20			ENSG00000116171	ENSG00000116171			10606	protein-coding gene	gene with protein product		184755				1703300, 1718316	Standard	NM_001007098		Approved		uc001cur.2	P22307	OTTHUMG00000008936	ENST00000371514.3:c.232C>T	1.37:g.53416459C>T	ENSP00000360569:p.His78Tyr	Somatic	110	0		WXS	Illumina HiSeq	Phase_I	118	25	NM_002979	0	0	9	13	4	A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000371514.3	37	CCDS572.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.184073	0.57800	.	.	ENSG00000116171	ENST00000371514;ENST00000407246	D;D	0.94138	-2.66;-3.36	5.09	5.09	0.68999	Thiolase-like, subgroup (1);Thiolase, N-terminal (1);Thiolase-like (1);	0.095236	0.64402	D	0.000001	D	0.96015	0.8702	M	0.76838	2.35	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.69307	0.96;0.963	D	0.94185	0.7435	10	0.17832	T	0.49	-12.7756	17.4125	0.87489	0.0:1.0:0.0:0.0	.	54;78	C9JC79;P22307	.;NLTP_HUMAN	Y	78;54	ENSP00000360569:H78Y;ENSP00000384569:H54Y	ENSP00000360569:H78Y	H	+	1	0	SCP2	53189047	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.914000	0.75764	2.629000	0.89072	0.563000	0.77884	CAC	.		0.393	SCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024740.2	NM_002979	
PODN	127435	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	53535630	53535630	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr1:53535630G>T	ENST00000312553.5	+	2	254	c.247G>T	c.(247-249)Ggc>Tgc	p.G83C	PODN_ENST00000371500.3_Missense_Mutation_p.G64C|RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000395871.2_Missense_Mutation_p.G83C	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	35	LRRNT.				negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCGAAGTGGCGGCCACAGCCT	0.697																																					p.G83C		.											.	PODN-92	0			c.G247T						.						10.0	14.0	13.0					1																	53535630		2187	4283	6470	SO:0001583	missense	127435	exon2			AGTGGCGGCCACA	AY313607	CCDS573.1, CCDS55601.1, CCDS55602.1	1p32.3	2008-02-05			ENSG00000174348	ENSG00000174348		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	23174	protein-coding gene	gene with protein product	"""podocan proteoglycan"""	608661					Standard	NM_153703		Approved	PCAN, PODOCAN, MGC24995, SLRR5A	uc010onr.2	Q7Z5L7	OTTHUMG00000008934	ENST00000312553.5:c.247G>T	1.37:g.53535630G>T	ENSP00000308315:p.Gly83Cys	Somatic	28	0		WXS	Illumina HiSeq	Phase_I	50	23	NM_153703	0	0	0	0	0	B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	Missense_Mutation	SNP	ENST00000312553.5	37	CCDS573.1	.	.	.	.	.	.	.	.	.	.	G	9.986	1.229555	0.22542	.	.	ENSG00000174348	ENST00000371500;ENST00000395871;ENST00000312553	T;T;T	0.59502	0.91;0.26;1.02	4.19	-3.33	0.04958	.	1.673490	0.03184	N	0.172477	T	0.54532	0.1864	N	0.08118	0	0.09310	N	1	D;P;P	0.65815	0.995;0.545;0.545	D;B;B	0.65010	0.931;0.209;0.306	T	0.53927	-0.8369	10	0.56958	D	0.05	.	10.02	0.42037	0.6741:0.0:0.3259:0.0	.	83;64;83	Q7Z5L7-4;Q7Z5L7-2;Q7Z5L7-3	.;.;.	C	64;83;83	ENSP00000360555:G64C;ENSP00000379212:G83C;ENSP00000308315:G83C	ENSP00000308315:G83C	G	+	1	0	PODN	53308218	0.000000	0.05858	0.001000	0.08648	0.042000	0.13812	-1.213000	0.02991	-0.646000	0.05452	-0.424000	0.05967	GGC	.		0.697	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024735.1	NM_153703	
NEXN	91624	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	78395127	78395127	+	Missense_Mutation	SNP	G	G	C	rs533331740		TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr1:78395127G>C	ENST00000334785.7	+	9	1175	c.991G>C	c.(991-993)Gaa>Caa	p.E331Q	NEXN_ENST00000457030.1_Missense_Mutation_p.E317Q|NEXN_ENST00000330010.8_Missense_Mutation_p.E267Q	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		gaaagcagaagaagaagccag	0.388																																					p.E331Q		.											.	NEXN-92	0			c.G991C						.						91.0	91.0	91.0					1																	78395127		1854	4094	5948	SO:0001583	missense	91624	exon9			GCAGAAGAAGAAG	AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"""Immunoglobulin superfamily / I-set domain containing"""	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.991G>C	1.37:g.78395127G>C	ENSP00000333938:p.Glu331Gln	Somatic	93	0		WXS	Illumina HiSeq	Phase_I	98	28	NM_144573	0	0	0	0	0		Missense_Mutation	SNP	ENST00000334785.7	37	CCDS41351.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.32|13.32	2.200748|2.200748	0.38905|0.38905	.|.	.|.	ENSG00000162614|ENSG00000162614	ENST00000401035;ENST00000457030;ENST00000330010;ENST00000334785;ENST00000440324|ENST00000342754	T;T;T;T;T|.	0.69175|.	-0.38;0.01;0.03;0.1;-0.33|.	4.98|4.98	4.05|4.05	0.47172|0.47172	.|.	0.289025|.	0.24238|.	N|.	0.040288|.	T|T	0.49029|0.49029	0.1533|0.1533	L|L	0.49455|0.49455	1.56|1.56	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.16603|.	0.006;0.018;0.011;0.006|.	B;B;B;B|.	0.18263|.	0.021;0.016;0.016;0.016|.	T|T	0.48375|0.48375	-0.9041|-0.9041	10|5	0.30078|.	T|.	0.28|.	-4.9227|-4.9227	13.6045|13.6045	0.62039|0.62039	0.0:0.156:0.844:0.0|0.0:0.156:0.844:0.0	.|.	267;317;331;267|.	D3DQ79;Q0ZGT2-2;Q0ZGT2;B4DPZ7|.	.;.;NEXN_HUMAN;.|.	Q|N	267;317;267;331;317|230	ENSP00000383814:E267Q;ENSP00000388048:E317Q;ENSP00000327363:E267Q;ENSP00000333938:E331Q;ENSP00000411902:E317Q|.	ENSP00000327363:E267Q|.	E|K	+|+	1|3	0|2	NEXN|NEXN	78167715|78167715	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.850000|0.850000	0.48378|0.48378	4.893000|4.893000	0.63199|0.63199	1.207000|1.207000	0.43291|0.43291	0.591000|0.591000	0.81541|0.81541	GAA|AAG	.		0.388	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097549.1	NM_144573	
SLC6A17	388662	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	110734657	110734657	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr1:110734657G>A	ENST00000331565.4	+	7	1413	c.928G>A	c.(928-930)Ggc>Agc	p.G310S		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	310					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		CTTTGCCTTGGGCCTGGGCTT	0.552																																					p.G310S		.											.	SLC6A17-92	0			c.G928A						.						146.0	144.0	145.0					1																	110734657		2203	4300	6503	SO:0001583	missense	388662	exon7			GCCTTGGGCCTGG		CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"""Solute carriers"""	31399	protein-coding gene	gene with protein product		610299	"""solute carrier family 6 (neurotransmitter transporter), member 17"", ""solute carrier family 6, member 17"""				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.928G>A	1.37:g.110734657G>A	ENSP00000330199:p.Gly310Ser	Somatic	142	0		WXS	Illumina HiSeq	Phase_I	200	46	NM_001010898	0	0	0	0	0	A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Missense_Mutation	SNP	ENST00000331565.4	37	CCDS30799.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.205508	0.79127	.	.	ENSG00000197106	ENST00000331565;ENST00000450985	T	0.71579	-0.58	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.77280	0.4107	L	0.52823	1.66	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75929	-0.3144	10	0.38643	T	0.18	.	18.2409	0.89967	0.0:0.0:1.0:0.0	.	310	Q9H1V8	S6A17_HUMAN	S	310	ENSP00000330199:G310S	ENSP00000330199:G310S	G	+	1	0	SLC6A17	110536180	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	9.414000	0.97362	2.298000	0.77334	0.650000	0.86243	GGC	.		0.552	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	XM_371280	
SLC16A4	9122	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	110921516	110921516	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr1:110921516C>A	ENST00000369779.4	-	6	1238	c.989G>T	c.(988-990)gGg>gTg	p.G330V	SLC16A4_ENST00000437429.2_Missense_Mutation_p.G220V|SLC16A4_ENST00000541986.1_Missense_Mutation_p.G268V|SLC16A4_ENST00000369781.4_Intron|SLC16A4_ENST00000497687.1_5'Flank|SLC16A4_ENST00000472422.2_Missense_Mutation_p.G282V	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	330					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	GATGTCAATCCCCAGTGTTTT	0.418																																					p.G330V		.											.	SLC16A4-93	0			c.G989T						.						108.0	105.0	106.0					1																	110921516		2203	4300	6503	SO:0001583	missense	9122	exon6			TCAATCCCCAGTG	U59185	CCDS823.1, CCDS55621.1, CCDS55622.1, CCDS55623.1, CCDS55624.1	1p13.3	2013-07-18	2013-07-18		ENSG00000168679	ENSG00000168679		"""Solute carriers"""	10925	protein-coding gene	gene with protein product		603878	"""solute carrier family 16 (monocarboxylic acid transporters), member 4"", ""solute carrier family 16, member 4 (monocarboxylic acid transporter 5)"""			9425115	Standard	NM_004696		Approved	MCT4, MCT5	uc001dzo.2	O15374	OTTHUMG00000011285	ENST00000369779.4:c.989G>T	1.37:g.110921516C>A	ENSP00000358794:p.Gly330Val	Somatic	163	0		WXS	Illumina HiSeq	Phase_I	157	47	NM_004696	0	0	37	65	28	A8K3V5|B2R9C9|B4DJ67|B4DPX7|E7EPY8|G3V175|Q5T612|Q8WU09	Missense_Mutation	SNP	ENST00000369779.4	37	CCDS823.1	.	.	.	.	.	.	.	.	.	.	c	19.00	3.741081	0.69304	.	.	ENSG00000168679	ENST00000369779;ENST00000472422;ENST00000437429;ENST00000541986;ENST00000467986	D;D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22;-2.22	6.08	3.23	0.37069	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.367376	0.34156	N	0.004216	D	0.91005	0.7171	M	0.85197	2.74	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.997;0.999	D;D;D;D	0.79784	0.993;0.986;0.982;0.986	D	0.91070	0.4892	10	0.87932	D	0	.	10.0556	0.42244	0.0:0.7928:0.0:0.2072	.	220;268;282;330	E7EPY8;B4DJ67;G3V175;O15374	.;.;.;MOT5_HUMAN	V	330;282;220;268;97	ENSP00000358794:G330V;ENSP00000432495:G282V;ENSP00000394790:G220V;ENSP00000446087:G268V;ENSP00000435768:G97V	ENSP00000358794:G330V	G	-	2	0	SLC16A4	110723039	0.996000	0.38824	0.271000	0.24616	0.894000	0.52154	3.296000	0.51802	0.463000	0.27118	-0.156000	0.13503	GGG	.		0.418	SLC16A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000031115.3	NM_004696	
ZNF687	57592	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	151261140	151261140	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr1:151261140T>G	ENST00000368879.2	+	3	2350	c.2252T>G	c.(2251-2253)cTc>cGc	p.L751R		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	751					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAGACCCATCTCCGGGAGGCC	0.582																																					p.L751R		.											.	ZNF687-92	0			c.T2252G						.						124.0	110.0	115.0					1																	151261140		2203	4300	6503	SO:0001583	missense	57592	exon3			CCCATCTCCGGGA		CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373			29277	protein-coding gene	gene with protein product		610568				10718198	Standard	NM_020832		Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	ENST00000368879.2:c.2252T>G	1.37:g.151261140T>G	ENSP00000357874:p.Leu751Arg	Somatic	130	0		WXS	Illumina HiSeq	Phase_I	146	36	NM_020832	0	0	6	9	3	D3DV17|Q68DQ8|Q9H937|Q9P2A7	Missense_Mutation	SNP	ENST00000368879.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.3|25.3	4.623891|4.623891	0.87460|0.87460	.|.	.|.	ENSG00000143373|ENSG00000143373	ENST00000336715;ENST00000324048;ENST00000368879|ENST00000426871	T;T;T|.	0.02032|.	4.49;4.49;4.49|.	4.98|4.98	4.98|4.98	0.66077|0.66077	Zinc finger, C2H2-like (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	0.000000|.	0.32068|.	N|.	0.006627|.	T|T	0.51126|0.51126	0.1656|0.1656	L|L	0.48986|0.48986	1.54|1.54	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.991|.	T|T	0.51084|0.51084	-0.8750|-0.8750	10|5	0.66056|.	D|.	0.02|.	.|.	13.7947|13.7947	0.63164|0.63164	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	751;751|.	Q8N1G0-2;Q8N1G0|.	.;ZN687_HUMAN|.	R|A	751|354	ENSP00000336620:L751R;ENSP00000319829:L751R;ENSP00000357874:L751R|.	ENSP00000319829:L751R|.	L|S	+|+	2|1	0|0	ZNF687|ZNF687	149527764|149527764	0.994000|0.994000	0.37717|0.37717	0.765000|0.765000	0.31456|0.31456	0.997000|0.997000	0.91878|0.91878	7.803000|7.803000	0.85983|0.85983	2.098000|2.098000	0.63641|0.63641	0.459000|0.459000	0.35465|0.35465	CTC|TCC	.		0.582	ZNF687-201	KNOWN	basic	protein_coding	protein_coding		NM_020832	
ADAR	103	broad.mit.edu	37	1	154574370	154574370	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr1:154574370C>A	ENST00000368474.4	-	2	947	c.748G>T	c.(748-750)Gct>Tct	p.A250S	ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000471068.1_5'Flank|ADAR_ENST00000292205.5_Missense_Mutation_p.A293S	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	250					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CAAGCCTGAGCTGAGACTGCA	0.512																																					p.A250S													.	ADAR-157	0			c.G748T						.						120.0	124.0	122.0					1																	154574370		2203	4300	6503	SO:0001583	missense	103	exon2			CCTGAGCTGAGAC	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.748G>T	1.37:g.154574370C>A	ENSP00000357459:p.Ala250Ser	Somatic	203	0		WXS	Illumina HiSeq	Phase_I	244	6	NM_001111	0	0	12	12	0	B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	37	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	C	10.19	1.281003	0.23392	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000529168	T;T;T	0.11712	2.75;2.76;2.79	2.09	-0.586	0.11694	.	1.204520	0.07030	U	0.828319	T	0.01222	0.0040	N	0.14661	0.345	0.09310	N	1	B;B;B	0.17667	0.023;0.023;0.013	B;B;B	0.14023	0.01;0.01;0.005	T	0.44590	-0.9318	10	0.06236	T	0.91	.	5.6522	0.17622	0.5699:0.4301:0.0:0.0	.	250;250;250	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	S	293;250;245	ENSP00000292205:A293S;ENSP00000357459:A250S;ENSP00000431794:A245S	ENSP00000292205:A293S	A	-	1	0	ADAR	152840994	0.635000	0.27199	0.134000	0.22075	0.149000	0.21700	0.000000	0.12993	0.145000	0.18977	0.491000	0.48974	GCT	.		0.512	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111	
DCST1	149095	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	155015935	155015935	+	Silent	SNP	G	G	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr1:155015935G>T	ENST00000295542.1	+	10	1218	c.1122G>T	c.(1120-1122)ctG>ctT	p.L374L	DCST1_ENST00000423025.2_Silent_p.L349L|DCST1_ENST00000392480.1_Silent_p.L374L|DCST1_ENST00000368419.2_Silent_p.L374L|RP11-307C12.11_ENST00000452962.1_RNA	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	374						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			AGTGGGCCCTGGGGCTGCTGC	0.687																																					p.L374L		.											.	DCST1-92	0			c.G1122T						.						51.0	52.0	52.0					1																	155015935		2203	4299	6502	SO:0001819	synonymous_variant	149095	exon10			GGCCCTGGGGCTG	AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.1122G>T	1.37:g.155015935G>T		Somatic	64	0		WXS	Illumina HiSeq	Phase_I	70	21	NM_152494	0	0	0	0	0	B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Silent	SNP	ENST00000295542.1	37	CCDS1083.1																																																																																			.		0.687	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099006.1	NM_152494	
ADCY10	55811	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	167825476	167825476	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr1:167825476C>T	ENST00000367851.4	-	17	2282	c.2098G>A	c.(2098-2100)Gta>Ata	p.V700I	ADCY10_ENST00000545172.1_Missense_Mutation_p.V547I|ADCY10_ENST00000367848.1_Missense_Mutation_p.V608I	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	700					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TTAGGCTGTACTGCACCAATG	0.458																																					p.V700I		.											.	ADCY10-493	0			c.G2098A						.						315.0	265.0	282.0					1																	167825476		2203	4300	6503	SO:0001583	missense	55811	exon17			GCTGTACTGCACC	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.2098G>A	1.37:g.167825476C>T	ENSP00000356825:p.Val700Ile	Somatic	240	0		WXS	Illumina HiSeq	Phase_I	284	89	NM_018417	0	0	0	0	0	B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	C	4.303	0.055518	0.08291	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.26223	1.76;1.75;1.76	5.16	-9.58	0.00559	.	0.951722	0.08707	N	0.905544	T	0.03695	0.0105	N	0.13043	0.29	0.21527	N	0.999654	B;B;B	0.19583	0.037;0.018;0.006	B;B;B	0.16289	0.015;0.007;0.003	T	0.43032	-0.9416	9	0.54805	T	0.06	-0.402	8.8296	0.35076	0.0:0.1525:0.2062:0.6412	.	547;608;700	F5GWS5;Q96PN6-2;Q96PN6	.;.;ADCYA_HUMAN	I	547;700;608	ENSP00000441992:V547I;ENSP00000356825:V700I;ENSP00000356822:V608I	ENSP00000356822:V608I	V	-	1	0	ADCY10	166092100	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.529000	0.00945	-1.853000	0.01165	-0.440000	0.05779	GTA	.		0.458	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417	
KCNT2	343450	broad.mit.edu;bcgsc.ca	37	1	196227503	196227503	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr1:196227503C>T	ENST00000294725.9	-	26	3947	c.3032G>A	c.(3031-3033)cGg>cAg	p.R1011Q	KCNT2_ENST00000609185.1_Missense_Mutation_p.R944Q|KCNT2_ENST00000367431.4_Missense_Mutation_p.R945Q|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367433.5_Missense_Mutation_p.R987Q|KCNT2_ENST00000451324.2_3'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1011					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GCTTTTTCTCCGCAGCAAGGG	0.517																																					p.R1011Q													.	KCNT2-159	0			c.G3032A						.						169.0	140.0	150.0					1																	196227503		2203	4300	6503	SO:0001583	missense	343450	exon26			TTTCTCCGCAGCA	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.3032G>A	1.37:g.196227503C>T	ENSP00000294725:p.Arg1011Gln	Somatic	168	0		WXS	Illumina HiSeq	Phase_I	165	8	NM_198503	0	0	0	0	0	Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.507711	0.64410	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.36699	1.37;1.24;1.88	5.74	4.83	0.62350	.	0.000000	0.53938	D	0.000058	T	0.61999	0.2392	M	0.80616	2.505	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.987;0.995;0.987;0.988	T	0.67799	-0.5577	10	0.66056	D	0.02	-9.2458	14.7148	0.69259	0.0:0.9307:0.0:0.0693	.	976;987;944;1011	Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	Q	987;945;1011	ENSP00000356403:R987Q;ENSP00000356401:R945Q;ENSP00000294725:R1011Q	ENSP00000294725:R1011Q	R	-	2	0	KCNT2	194494126	1.000000	0.71417	0.995000	0.50966	0.305000	0.27757	7.487000	0.81328	1.437000	0.47472	-0.148000	0.13756	CGG	.		0.517	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503	
ASPM	259266	ucsc.edu;bcgsc.ca	37	1	197069639	197069639	+	Silent	SNP	G	G	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr1:197069639G>A	ENST00000367409.4	-	18	8998	c.8742C>T	c.(8740-8742)atC>atT	p.I2914I	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2914	IQ 33. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.I2914I(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTTGAATAATGATAACACTGC	0.294																																					p.I2914I													.	ASPM-615	1	Substitution - coding silent(1)	lung(1)	c.C8742T						.						59.0	61.0	60.0					1																	197069639		2203	4296	6499	SO:0001819	synonymous_variant	259266	exon18			AATAATGATAACA	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.8742C>T	1.37:g.197069639G>A		Somatic	38	0		WXS	Illumina HiSeq		42	4	NM_018136	0	0	0	0	0	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	CCDS1389.1																																																																																			.		0.294	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136	
CHI3L1	1116	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	203151959	203151959	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr1:203151959T>C	ENST00000255409.3	-	6	612	c.487A>G	c.(487-489)Aag>Gag	p.K163E		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	163					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to tumor necrosis factor (GO:0071356)|chitin catabolic process (GO:0006032)|inflammatory response (GO:0006954)|interleukin-8 secretion (GO:0072606)|lung development (GO:0030324)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase B signaling (GO:0051897)|response to interleukin-1 (GO:0070555)|response to interleukin-6 (GO:0070741)|response to mechanical stimulus (GO:0009612)|response to tumor necrosis factor (GO:0034612)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|extracellular matrix structural constituent (GO:0005201)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						TGGGCTTCCTTTATAAATTCG	0.537																																					p.K163E		.											.	CHI3L1-515	0			c.A487G						.						67.0	62.0	64.0					1																	203151959		2203	4300	6503	SO:0001583	missense	1116	exon6			CTTCCTTTATAAA	BC008568	CCDS1435.1	1q32.1	2008-02-05			ENSG00000133048	ENSG00000133048			1932	protein-coding gene	gene with protein product		601525				8245017, 9244440	Standard	NM_001276		Approved	GP39, YKL40	uc001gzi.2	P36222	OTTHUMG00000042122	ENST00000255409.3:c.487A>G	1.37:g.203151959T>C	ENSP00000255409:p.Lys163Glu	Somatic	82	0		WXS	Illumina HiSeq	Phase_I	108	29	NM_001276	0	0	33	34	1	B2R7B0|P30923|Q8IVA4|Q96HI7	Missense_Mutation	SNP	ENST00000255409.3	37	CCDS1435.1	.	.	.	.	.	.	.	.	.	.	T	4.508	0.094296	0.08632	.	.	ENSG00000133048	ENST00000255409	T	0.05996	3.36	5.51	-0.134	0.13481	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.813254	0.10863	N	0.625821	T	0.03959	0.0111	N	0.17723	0.515	0.09310	N	1	B	0.16802	0.019	B	0.19391	0.025	T	0.48547	-0.9026	10	0.12430	T	0.62	-9.5251	8.5461	0.33421	0.0:0.0823:0.5959:0.3217	.	163	P36222	CH3L1_HUMAN	E	163	ENSP00000255409:K163E	ENSP00000255409:K163E	K	-	1	0	CHI3L1	201418582	0.000000	0.05858	0.037000	0.18230	0.460000	0.32559	-0.071000	0.11505	0.013000	0.14918	0.459000	0.35465	AAG	.		0.537	CHI3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100265.1	NM_001276	
CENPF	1063	broad.mit.edu	37	1	214820384	214820384	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr1:214820384G>A	ENST00000366955.3	+	13	7639	c.7471G>A	c.(7471-7473)Gag>Aag	p.E2491K		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2587	2 X 177 AA tandem repeats.|Sufficient for centromere localization.|Sufficient for self-association.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGGCCTTGATGAGGCCAAAAA	0.403																																					p.E2491K	Colon(80;575 1284 11000 14801 43496)												.	CENPF-567	0			c.G7471A						.						63.0	72.0	69.0					1																	214820384		2202	4300	6502	SO:0001583	missense	1063	exon13			CTTGATGAGGCCA	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.7471G>A	1.37:g.214820384G>A	ENSP00000355922:p.Glu2491Lys	Somatic	108	0		WXS	Illumina HiSeq	Phase_I	103	5	NM_016343	0	0	1	1	0	Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	G	10.71	1.427652	0.25726	.	.	ENSG00000117724	ENST00000366955	T	0.03831	3.79	4.74	2.83	0.33086	.	0.195147	0.25205	N	0.032342	T	0.07234	0.0183	M	0.63843	1.955	0.09310	N	1	B	0.24533	0.105	B	0.26614	0.071	T	0.18587	-1.0332	10	0.48119	T	0.1	.	10.4803	0.44689	0.0743:0.1349:0.7907:0.0	.	2587	P49454	CENPF_HUMAN	K	2491	ENSP00000355922:E2491K	ENSP00000355922:E2491K	E	+	1	0	CENPF	212887007	1.000000	0.71417	0.009000	0.14445	0.023000	0.10783	2.868000	0.48436	0.666000	0.31087	-0.235000	0.12190	GAG	.		0.403	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343	
ANK3	288	broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	61829526	61829526	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr10:61829526A>C	ENST00000280772.2	-	37	11304	c.11113T>G	c.(11113-11115)Tca>Gca	p.S3705A	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3705					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GCTGCTGCTGATTTCTCCAGG	0.512																																					p.S3705A													.	ANK3-107	0			c.T11113G						.						83.0	98.0	92.0					10																	61829526		2203	4300	6503	SO:0001583	missense	288	exon37			CTGCTGATTTCTC	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.11113T>G	10.37:g.61829526A>C	ENSP00000280772:p.Ser3705Ala	Somatic	136	1		WXS	Illumina HiSeq	Phase_I	136	28	NM_020987	0	0	0	0	0	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	A	4.423	0.078237	0.08485	.	.	ENSG00000151150	ENST00000280772	T	0.16324	2.35	5.52	-11.0	0.00169	.	0.998150	0.08104	N	0.997186	T	0.07052	0.0179	N	0.08118	0	0.31643	N	0.647774	B	0.02656	0.0	B	0.01281	0.0	T	0.37150	-0.9718	10	0.34782	T	0.22	.	12.7032	0.57045	0.258:0.6191:0.0549:0.0681	.	3705	Q12955	ANK3_HUMAN	A	3705	ENSP00000280772:S3705A	ENSP00000280772:S3705A	S	-	1	0	ANK3	61499532	0.247000	0.23920	0.021000	0.16686	0.899000	0.52679	-0.268000	0.08607	-2.908000	0.00309	-1.389000	0.01157	TCA	.		0.512	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987	
NUDT13	25961	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	74884990	74884990	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr10:74884990T>G	ENST00000357321.4	+	6	698	c.580T>G	c.(580-582)Tat>Gat	p.Y194D	NUDT13_ENST00000544879.1_Missense_Mutation_p.Y68D|NUDT13_ENST00000537969.1_5'UTR|NUDT13_ENST00000488223.1_3'UTR|RP11-152N13.16_ENST00000608444.1_RNA|NUDT13_ENST00000372997.3_Missense_Mutation_p.Y194D|SNORA11_ENST00000408237.1_RNA|NUDT13_ENST00000349051.5_Missense_Mutation_p.Y194D	NM_001283016.1|NM_015901.4	NP_001269945.1|NP_056985.3			nudix (nucleoside diphosphate linked moiety X)-type motif 13											large_intestine(2)|lung(5)	7	Prostate(51;0.0119)					TAATATAATCTATTATCCACA	0.478																																					p.Y194D		.											.	NUDT13-90	0			c.T580G						.						68.0	70.0	69.0					10																	74884990		2203	4300	6503	SO:0001583	missense	25961	exon6			ATAATCTATTATC	AL050114	CCDS31220.1, CCDS60551.1, CCDS60552.1, CCDS60553.1, CCDS73148.1	10q22.3	2014-04-24			ENSG00000166321	ENSG00000166321		"""Nudix motif containing"""	18827	protein-coding gene	gene with protein product		609233				15164054	Standard	NM_001283019		Approved	DKFZp586P2219	uc001jtj.3	Q86X67	OTTHUMG00000018453	ENST00000357321.4:c.580T>G	10.37:g.74884990T>G	ENSP00000349874:p.Tyr194Asp	Somatic	115	0		WXS	Illumina HiSeq	Phase_I	101	25	NM_015901	0	0	0	0	0		Missense_Mutation	SNP	ENST00000357321.4	37	CCDS31220.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.580430	0.86645	.	.	ENSG00000166321	ENST00000357321;ENST00000349051;ENST00000544879;ENST00000372997	T;T;T;T	0.44083	0.93;1.36;0.93;1.43	5.97	5.97	0.96955	NUDIX hydrolase domain (1);Zinc ribbon, NADH pyrophosphatase (1);NUDIX hydrolase domain-like (1);	0.108901	0.64402	D	0.000004	T	0.57902	0.2085	L	0.42245	1.32	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.979	D;D;P	0.79108	0.992;0.984;0.821	T	0.57556	-0.7791	10	0.52906	T	0.07	.	16.43	0.83839	0.0:0.0:0.0:1.0	.	194;194;194	Q86X67-2;Q5SQM6;Q86X67	.;.;NUD13_HUMAN	D	194;194;68;194	ENSP00000349874:Y194D;ENSP00000335326:Y194D;ENSP00000440760:Y68D;ENSP00000362088:Y194D	ENSP00000335326:Y194D	Y	+	1	0	NUDT13	74554996	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.758000	0.68776	2.283000	0.76528	0.533000	0.62120	TAT	.		0.478	NUDT13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048614.1	NM_015901	
MAT1A	4143	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	10	82039973	82039973	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr10:82039973G>T	ENST00000372213.3	-	5	765	c.505C>A	c.(505-507)Cgc>Agc	p.R169S		NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	169					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	AGGCCGGAGCGCCTGAGGTCT	0.582																																					p.R169S		.											.	MAT1A-90	0			c.C505A						.						71.0	79.0	76.0					10																	82039973		2203	4300	6503	SO:0001583	missense	4143	exon5			CGGAGCGCCTGAG		CCDS7365.1	10q22	2008-08-01			ENSG00000151224	ENSG00000151224			6903	protein-coding gene	gene with protein product	"""S-adenosylmethionine synthetase"""	610550				8393662	Standard	XM_005269842		Approved	MAT, SAMS, MATA1, SAMS1	uc001kbw.3	Q00266	OTTHUMG00000018613	ENST00000372213.3:c.505C>A	10.37:g.82039973G>T	ENSP00000361287:p.Arg169Ser	Somatic	76	0		WXS	Illumina HiSeq	Phase_I	86	7	NM_000429	0	0	0	0	0	D3DWD5|Q5QP09	Missense_Mutation	SNP	ENST00000372213.3	37	CCDS7365.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.441355	0.43326	.	.	ENSG00000151224	ENST00000372213;ENST00000372206;ENST00000455001	D;D	0.82619	-1.63;-1.63	4.91	4.01	0.46588	S-adenosylmethionine synthetase, central domain (1);S-adenosylmethionine synthetase superfamily (1);	0.097389	0.64402	N	0.000001	D	0.91835	0.7416	M	0.93854	3.465	0.80722	D	1	D	0.60160	0.987	D	0.62955	0.909	D	0.93004	0.6426	10	0.87932	D	0	-22.5394	11.6157	0.51088	0.0885:0.0:0.9115:0.0	.	169	Q00266	METK1_HUMAN	S	169;169;106	ENSP00000361287:R169S;ENSP00000414961:R106S	ENSP00000361280:R169S	R	-	1	0	MAT1A	82029953	1.000000	0.71417	0.858000	0.33744	0.028000	0.11728	6.335000	0.72949	1.217000	0.43442	-0.123000	0.14984	CGC	.		0.582	MAT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049070.1	NM_000429	
NRG3	10718	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	83635455	83635455	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr10:83635455C>G	ENST00000404547.1	+	1	359	c.359C>G	c.(358-360)tCt>tGt	p.S120C	NRG3_ENST00000556918.1_5'Flank|NRG3_ENST00000372141.2_Missense_Mutation_p.S120C|NRG3_ENST00000372142.2_5'Flank|NRG3_ENST00000404576.2_5'Flank			P56975	NRG3_HUMAN	neuregulin 3	120	Ser/Thr-rich.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		AAGCCCAGCTCTTTCCCCAAG	0.662																																					p.S120C		.											.	NRG3-522	0			c.C359G						.						71.0	78.0	75.0					10																	83635455		2203	4300	6503	SO:0001583	missense	10718	exon1			CCAGCTCTTTCCC	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.359C>G	10.37:g.83635455C>G	ENSP00000384796:p.Ser120Cys	Somatic	95	0		WXS	Illumina HiSeq	Phase_I	113	29	NM_001165972	0	0	0	0	0	A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	37	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	c	19.30	3.801788	0.70682	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287	T;T	0.35973	1.28;1.29	2.97	2.97	0.34412	.	.	.	.	.	T	0.41119	0.1145	N	0.19112	0.55	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.66847	0.947;0.947	T	0.42361	-0.9456	9	0.72032	D	0.01	-10.7268	11.8419	0.52359	0.0:1.0:0.0:0.0	.	120;120	B9EGV5;P56975-4	.;.	C	120	ENSP00000361214:S120C;ENSP00000384796:S120C	ENSP00000361214:S120C	S	+	2	0	NRG3	83625435	0.970000	0.33590	1.000000	0.80357	0.995000	0.86356	2.334000	0.43920	1.680000	0.50976	0.459000	0.35465	TCT	.		0.662	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086	
LRIT2	340745	ucsc.edu;bcgsc.ca	37	10	85984556	85984556	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr10:85984556A>T	ENST00000372113.4	-	2	430	c.425T>A	c.(424-426)cTc>cAc	p.L142H	LRIT2_ENST00000538192.1_Missense_Mutation_p.L142H	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	142						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						CAGCTCAGGGAGTGCATCAAT	0.522																																					p.L142H													.	LRIT2-92	0			c.T425A						.						129.0	124.0	126.0					10																	85984556		2203	4300	6503	SO:0001583	missense	340745	exon2			TCAGGGAGTGCAT		CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"""Immunoglobulin superfamily / I-set domain containing"""	23443	protein-coding gene	gene with protein product			"""leucine rich repeat containing 22"""	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.425T>A	10.37:g.85984556A>T	ENSP00000361185:p.Leu142His	Somatic	183	2		WXS	Illumina HiSeq		195	54	NM_001017924	0	0	0	0	0	B7ZME6	Missense_Mutation	SNP	ENST00000372113.4	37	CCDS31234.1	.	.	.	.	.	.	.	.	.	.	A	16.26	3.073041	0.55646	.	.	ENSG00000204033	ENST00000372113;ENST00000538192	T;T	0.20069	2.1;2.1	5.91	4.76	0.60689	.	0.127000	0.53938	N	0.000047	T	0.56978	0.2022	H	0.95679	3.705	0.52501	D	0.999952	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.99	T	0.67898	-0.5551	10	0.87932	D	0	.	11.5781	0.50875	0.8661:0.0:0.0:0.1339	.	142;142	B7ZME6;A6NDA9	.;LRIT2_HUMAN	H	142	ENSP00000361185:L142H;ENSP00000438264:L142H	ENSP00000361185:L142H	L	-	2	0	LRIT2	85974536	1.000000	0.71417	0.014000	0.15608	0.456000	0.32438	7.105000	0.77031	1.025000	0.39708	0.533000	0.62120	CTC	.		0.522	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049110.4	XM_291697	
BMPR1A	657	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	88681453	88681453	+	Splice_Site	SNP	G	G	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr10:88681453G>A	ENST00000372037.3	+	11	1879		c.e11+1			NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA						BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|developmental growth (GO:0048589)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic digit morphogenesis (GO:0042733)|embryonic organ development (GO:0048568)|endocardial cushion formation (GO:0003272)|heart formation (GO:0060914)|hindlimb morphogenesis (GO:0035137)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lateral mesoderm development (GO:0048368)|lung development (GO:0030324)|mesendoderm development (GO:0048382)|mesoderm formation (GO:0001707)|Mullerian duct regression (GO:0001880)|negative regulation of neurogenesis (GO:0050768)|neural crest cell development (GO:0014032)|neural plate mediolateral regionalization (GO:0021998)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|paraxial mesoderm structural organization (GO:0048352)|pituitary gland development (GO:0021983)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of lateral mesodermal cell fate specification (GO:0048378)|somitogenesis (GO:0001756)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway (GO:0007179)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						ATCACAGGAGGTGGGAGTTTG	0.388			"""Mis, N, F"""			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2																												.	Ovarian(190;603 2086 22044 30335 47971)	.	yes	Rec		Juvenile polyposis	10	10q22.3	657	"""bone morphogenetic protein receptor, type IA"""		E	.	BMPR1A-1619	0			c.1342+1G>A						.						112.0	108.0	110.0					10																	88681453		2203	4300	6503	SO:0001630	splice_region_variant	657	exon11	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HMPS2	CAGGAGGTGGGAG	BC028383	CCDS7378.1	10q22.3	2014-09-17			ENSG00000107779	ENSG00000107779		"""CD molecules"""	1076	protein-coding gene	gene with protein product		601299		ACVRLK3		8397373, 9730621	Standard	NM_004329		Approved	ALK3, CD292	uc001kdy.3	P36894	OTTHUMG00000018657	ENST00000372037.3:c.1342+1G>A	10.37:g.88681453G>A		Somatic	163	0		WXS	Illumina HiSeq	Phase_I	155	44	NM_004329	0	0	0	9	9	A8K6U9|Q8NEN8	Splice_Site	SNP	ENST00000372037.3	37	CCDS7378.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039456	0.75617	.	.	ENSG00000107779	ENST00000224764;ENST00000372037	.	.	.	5.63	4.72	0.59763	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3472	0.83146	0.0:0.0:0.867:0.133	.	.	.	.	.	-1	.	.	.	+	.	.	BMPR1A	88671433	1.000000	0.71417	0.989000	0.46669	0.789000	0.44602	9.738000	0.98835	1.511000	0.48818	0.655000	0.94253	.	.		0.388	BMPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049170.3	NM_004329	Intron
PIPSL	266971	ucsc.edu	37	10	95719222	95719222	+	RNA	SNP	C	C	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr10:95719222C>T	ENST00000480546.1	-	0	2075					NR_002319.2		A2A3N6	PIPSL_HUMAN	PIP5K1A and PSMD4-like, pseudogene							cytoplasm (GO:0005737)	phosphatidylinositol phosphate kinase activity (GO:0016307)										TGCCATTCAACGTGTTTACAA	0.458																																					.													.	.	0			.						.																																					266971	.			ATTCAACGTGTTT	BC068549		10q23.33	2010-10-27	2010-10-27	2007-07-06	ENSG00000180764	ENSG00000180764		"""Proteasome (prosome, macropain) subunits"""	23733	pseudogene	pseudogene			"""proteasome (prosome, macropain) 26S subunit, non-ATPase, 4, pseudogene 2"", ""phosphatidylinositol-4-phosphate 5-kinase, type I-like 1"", ""PIP5K1A and PSMD4-like"""	PSMD4P2, PIP5K1L1		16344562	Standard	NR_002319		Approved	PIP5K1A-PSMD4, PIP5K1P3	uc009xuj.2	A2A3N6	OTTHUMG00000137480		10.37:g.95719222C>T		Somatic	346	2		WXS	Illumina HiSeq		412	5	.	0	0	68	124	56	Q6NUK8	RNA	SNP	ENST00000480546.1	37																																																																																				.		0.458	PIPSL-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000351483.1	NR_002319	
CDHR5	53841	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	621148	621148	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr11:621148T>C	ENST00000358353.3	-	8	1043	c.721A>G	c.(721-723)Acc>Gcc	p.T241A	CDHR5_ENST00000349570.7_Missense_Mutation_p.T241A|CDHR5_ENST00000397542.2_Missense_Mutation_p.T241A			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	241					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						TCTGAGAAGGTGCAGGGCAGG	0.652																																					p.T241A		.											.	CDHR5-90	0			c.A721G						.						68.0	64.0	66.0					11																	621148		2203	4300	6503	SO:0001583	missense	53841	exon7			AGAAGGTGCAGGG	AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"""Cadherins / Cadherin-related"""	7521	protein-coding gene	gene with protein product		606839	"""mucin and cadherin-like"", ""mucin-like protocadherin"""	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.721A>G	11.37:g.621148T>C	ENSP00000351118:p.Thr241Ala	Somatic	112	0		WXS	Illumina HiSeq	Phase_I	154	34	NM_031264	0	2	87	126	37	C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Missense_Mutation	SNP	ENST00000358353.3	37	CCDS7707.1	.	.	.	.	.	.	.	.	.	.	T	3.798	-0.042254	0.07452	.	.	ENSG00000099834	ENST00000397542;ENST00000358353;ENST00000326366;ENST00000349570	T;T;T	0.45668	0.89;0.89;0.89	4.08	-8.15	0.01065	.	2.323100	0.02445	N	0.084999	T	0.12092	0.0294	N	0.02357	-0.585	0.09310	N	1	B;B;B;B;B	0.13594	0.0;0.005;0.002;0.002;0.008	B;B;B;B;B	0.09377	0.003;0.004;0.004;0.004;0.004	T	0.22977	-1.0201	10	0.10377	T	0.69	-2.285	0.0745	0.00025	0.3221:0.1617:0.2125:0.3037	.	241;241;234;241;241	Q58EZ6;Q9HBB8-4;B4DV98;Q9HBB8-2;Q9HBB8	.;.;.;.;CDHR5_HUMAN	A	241	ENSP00000380676:T241A;ENSP00000351118:T241A;ENSP00000345726:T241A	ENSP00000326527:T241A	T	-	1	0	CDHR5	611148	0.000000	0.05858	0.000000	0.03702	0.184000	0.23303	-1.800000	0.01744	-2.416000	0.00567	-0.496000	0.04628	ACC	.		0.652	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924	
MUC2	4583	broad.mit.edu	37	11	1093271	1093271	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr11:1093271C>G	ENST00000441003.2	+	30	5117	c.5090C>G	c.(5089-5091)aCa>aGa	p.T1697R	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Missense_Mutation_p.T1664R|MUC2_ENST00000333592.6_5'Flank	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)		p.T1697R(2)|p.T1664R(2)		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)	cagaccccaacatcgacaccc	0.637																																					p.T1697R													.	MUC2-90	4	Substitution - Missense(4)	kidney(2)|skin(2)	c.C5090G						.						126.0	165.0	151.0					11																	1093271		1844	3338	5182	SO:0001583	missense	4583	exon30			CCCCAACATCGAC	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.5090C>G	11.37:g.1093271C>G	ENSP00000415183:p.Thr1697Arg	Somatic	54	0		WXS	Illumina HiSeq	Phase_I	70	4	NM_002457	0	0	0	0	0	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	5.778	0.327961	0.10956	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.13538	2.93;2.58	1.43	1.43	0.22495	.	27.718000	0.04275	U	0.342784	T	0.27027	0.0662	.	.	.	0.20307	N	0.999915	D	0.64830	0.994	D	0.67725	0.953	T	0.19647	-1.0299	9	0.30078	T	0.28	.	6.2291	0.20724	0.0:1.0:0.0:0.0	.	1697	E7EUV1	.	R	1697;1664	ENSP00000415183:T1697R;ENSP00000351956:T1664R	ENSP00000351956:T1664R	T	+	2	0	MUC2	1083271	0.001000	0.12720	0.002000	0.10522	0.003000	0.03518	0.752000	0.26362	0.796000	0.33947	0.184000	0.17185	ACA	.		0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457	
MUC5B	727897	broad.mit.edu	37	11	1268538	1268538	+	Silent	SNP	G	G	A	rs367868062		TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr11:1268538G>A	ENST00000529681.1	+	31	10486	c.10428G>A	c.(10426-10428)tcG>tcA	p.S3476S	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.S3479S	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3476	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)				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)		CGGCCACCTCGGGCATCTTGG	0.667																																					p.S3476S													.	.	0			c.G10428A						.	G		6,4250		0,6,2122	61.0	87.0	78.0		10428	-2.2	0.0	11		78	0,8416		0,0,4208	no	coding-synonymous	MUC5B	NM_002458.2		0,6,6330	AA,AG,GG		0.0,0.141,0.0473		3476/5763	1268538	6,12666	2128	4208	6336	SO:0001819	synonymous_variant	727897	exon31			CACCTCGGGCATC	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.10428G>A	11.37:g.1268538G>A		Somatic	181	1		WXS	Illumina HiSeq	Phase_I	243	7	NM_002458	0	0	0	0	0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	CCDS44515.2																																																																																			.		0.667	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
OR52D1	390066	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	5510196	5510196	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr11:5510196T>C	ENST00000322641.5	+	1	282	c.260T>C	c.(259-261)aTt>aCt	p.I87T	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	87					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGCTGGCCATTTTGTGGCTC	0.498																																					p.I87T		.											.	OR52D1-68	0			c.T260C						.						164.0	135.0	144.0					11																	5510196		2201	4297	6498	SO:0001583	missense	390066	exon1			TGGCCATTTTGTG	BK004276	CCDS31384.1	11p15.4	2012-08-09			ENSG00000181609	ENSG00000181609		"""GPCR / Class A : Olfactory receptors"""	15212	protein-coding gene	gene with protein product							Standard	NM_001005163		Approved		uc010qzg.2	Q9H346	OTTHUMG00000066895	ENST00000322641.5:c.260T>C	11.37:g.5510196T>C	ENSP00000326232:p.Ile87Thr	Somatic	413	1		WXS	Illumina HiSeq	Phase_I	419	115	NM_001005163	0	0	0	0	0	B9EGY9|Q6IFI6	Missense_Mutation	SNP	ENST00000322641.5	37	CCDS31384.1	.	.	.	.	.	.	.	.	.	.	T	18.56	3.650929	0.67472	.	.	ENSG00000181609	ENST00000322641	T	0.00384	7.6	5.57	5.57	0.84162	GPCR, rhodopsin-like superfamily (1);	0.088930	0.48767	D	0.000161	T	0.00936	0.0031	M	0.73372	2.23	0.41835	D	0.990092	D	0.89917	1.0	D	0.85130	0.997	T	0.73582	-0.3937	10	0.87932	D	0	.	14.7065	0.69194	0.0:0.0:0.0:1.0	.	87	Q9H346	O52D1_HUMAN	T	87	ENSP00000326232:I87T	ENSP00000326232:I87T	I	+	2	0	OR52D1	5466772	0.008000	0.16893	1.000000	0.80357	0.593000	0.36681	1.557000	0.36299	2.340000	0.79590	0.528000	0.53228	ATT	.		0.498	OR52D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143372.1	NM_001005163	
SUV420H1	51111	broad.mit.edu	37	11	67925405	67925405	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr11:67925405C>A	ENST00000304363.4	-	11	2761	c.2408G>T	c.(2407-2409)aGt>aTt	p.S803I		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	803					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						AAGAGGATCACTGCAGCACAC	0.438																																					p.S803I													.	SUV420H1-228	0			c.G2408T						.						191.0	206.0	201.0					11																	67925405		2200	4294	6494	SO:0001583	missense	51111	exon11			GGATCACTGCAGC	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.2408G>T	11.37:g.67925405C>A	ENSP00000305899:p.Ser803Ile	Somatic	138	0		WXS	Illumina HiSeq	Phase_I	123	4	NM_017635	0	0	3	3	0	B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.714362	0.30413	.	.	ENSG00000110066	ENST00000304363	T	0.47528	0.84	5.71	3.59	0.41128	.	0.364252	0.30869	N	0.008709	T	0.32912	0.0845	N	0.24115	0.695	0.09310	N	1	P	0.43169	0.8	B	0.41088	0.347	T	0.29427	-1.0012	10	0.87932	D	0	-9.2091	9.1236	0.36801	0.0:0.7325:0.1423:0.1252	.	803	Q4FZB7	SV421_HUMAN	I	803	ENSP00000305899:S803I	ENSP00000305899:S803I	S	-	2	0	SUV420H1	67681981	0.002000	0.14202	0.014000	0.15608	0.954000	0.61252	1.668000	0.37481	2.710000	0.92621	0.491000	0.48974	AGT	.		0.438	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635	
PRSS23	11098	broad.mit.edu	37	11	86519059	86519059	+	Missense_Mutation	SNP	G	G	A	rs368713993		TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr11:86519059G>A	ENST00000280258.5	+	2	799	c.374G>A	c.(373-375)cGa>cAa	p.R125Q	PRSS23_ENST00000533902.2_Intron|PRSS23_ENST00000441050.1_Missense_Mutation_p.R93Q	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23	125						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GGAAAGTCTCGAAGGAAGCGG	0.527																																					p.R125Q													.	PRSS23-515	0			c.G374A						.	G	GLN/ARG	0,4402		0,0,2201	81.0	76.0	77.0		374	5.8	1.0	11		77	1,8597	1.2+/-3.3	0,1,4298	no	missense	PRSS23	NM_007173.4	43	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	125/384	86519059	1,12999	2201	4299	6500	SO:0001583	missense	11098	exon2			AGTCTCGAAGGAA	AF015287	CCDS8278.1	11q14.2	2010-05-12			ENSG00000150687	ENSG00000150687		"""Serine peptidases / Serine peptidases"""	14370	protein-coding gene	gene with protein product							Standard	XM_005273727		Approved	SPUVE, SIG13	uc001pcb.3	O95084		ENST00000280258.5:c.374G>A	11.37:g.86519059G>A	ENSP00000280258:p.Arg125Gln	Somatic	157	0		WXS	Illumina HiSeq	Phase_I	180	5	NM_007173	0	0	5	5	0	B2RDJ1|B4E2J3|Q6IBI0	Missense_Mutation	SNP	ENST00000280258.5	37	CCDS8278.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.733287	0.89482	0.0	1.16E-4	ENSG00000150687	ENST00000527521;ENST00000280258;ENST00000441050	.	.	.	5.8	5.8	0.92144	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.000000	0.85682	D	0.000000	D	0.82930	0.5144	M	0.77486	2.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.80764	0.994;0.86	T	0.82047	-0.0651	8	.	.	.	-23.2305	20.0545	0.97645	0.0:0.0:1.0:0.0	.	93;125	B4E2J3;O95084	.;PRS23_HUMAN	Q	125;125;93	.	.	R	+	2	0	PRSS23	86196707	1.000000	0.71417	0.995000	0.50966	0.768000	0.43524	4.754000	0.62191	2.748000	0.94277	0.655000	0.94253	CGA	.		0.527	PRSS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393805.2	NM_007173	
SIK3	23387	broad.mit.edu	37	11	116729111	116729111	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr11:116729111G>A	ENST00000292055.4	-	20	2787	c.2752C>T	c.(2752-2754)Cgg>Tgg	p.R918W	SIK3_ENST00000542607.1_Missense_Mutation_p.R858W|AP006216.12_ENST00000444200.1_RNA|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000375288.1_Missense_Mutation_p.R253W|SIK3_ENST00000375300.1_Missense_Mutation_p.R976W|SIK3_ENST00000446921.2_Missense_Mutation_p.R916W|SIK3_ENST00000434315.2_Missense_Mutation_p.R757W	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	918	Gln-rich.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						AGCGAATGCCGGGGAGAAAGC	0.592																																					p.R918W													.	SIK3-919	0			c.C2752T						.						105.0	96.0	99.0					11																	116729111		2201	4296	6497	SO:0001583	missense	23387	exon20			AATGCCGGGGAGA	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.2752C>T	11.37:g.116729111G>A	ENSP00000292055:p.Arg918Trp	Somatic	281	1		WXS	Illumina HiSeq	Phase_I	385	6	NM_025164	0	0	12	12	0	A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	ENST00000292055.4	37	CCDS8379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.9|26.9	4.785267|4.785267	0.90282|0.90282	.|.	.|.	ENSG00000160584|ENSG00000160584	ENST00000445177;ENST00000446921|ENST00000375300;ENST00000292055;ENST00000375288;ENST00000542607;ENST00000434315	T;T|T;T;T;T;T	0.70869|0.34072	1.2;-0.52|1.38;1.38;1.38;1.38;1.38	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	.|0.000000	.|0.38326	.|U	.|0.001724	T|T	0.52789|0.52789	0.1756|0.1756	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.97110	.|1.0;0.999;0.999;0.999;0.999	T|T	0.54153|0.54153	-0.8336|-0.8336	7|10	0.87932|0.87932	D|D	0|0	.|.	19.7711|19.7711	0.96366|0.96366	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|918;858;757;918;253	.|Q9Y2K2-3;A1A5A8;A1A5A9;Q9Y2K2;Q9Y2K2-2	.|.;.;.;SIK3_HUMAN;.	L|W	1017;880|976;918;253;858;757	ENSP00000391295:P1017L;ENSP00000390442:P880L|ENSP00000364449:R976W;ENSP00000292055:R918W;ENSP00000364437:R253W;ENSP00000438108:R858W;ENSP00000415873:R757W	ENSP00000391295:P1017L|ENSP00000292055:R918W	P|R	-|-	2|1	0|2	SIK3|SIK3	116234321|116234321	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.949000|0.949000	0.60115|0.60115	8.979000|8.979000	0.93455|0.93455	2.654000|2.654000	0.90174|0.90174	0.655000|0.655000	0.94253|0.94253	CCG|CGG	.		0.592	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164	
SIK3	23387	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	116741113	116741113	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr11:116741113A>G	ENST00000292055.4	-	14	1603	c.1568T>C	c.(1567-1569)gTg>gCg	p.V523A	SIK3_ENST00000542607.1_Missense_Mutation_p.V475A|SIK3_ENST00000488337.1_5'Flank|SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000375300.1_Missense_Mutation_p.V581A|SIK3_ENST00000446921.2_Missense_Mutation_p.V533A|SIK3_ENST00000434315.2_Missense_Mutation_p.V422A	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	523					protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						AACTGCTGGCACTGCCTGAAG	0.542											OREG0003489	type=REGULATORY REGION|Gene=BC063887|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.V523A		.											.	SIK3-919	0			c.T1568C						.						76.0	67.0	70.0					11																	116741113		2201	4296	6497	SO:0001583	missense	23387	exon14			GCTGGCACTGCCT	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.1568T>C	11.37:g.116741113A>G	ENSP00000292055:p.Val523Ala	Somatic	88	0	1475	WXS	Illumina HiSeq	Phase_I	114	25	NM_025164	0	0	0	0	0	A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	ENST00000292055.4	37	CCDS8379.1	.	.	.	.	.	.	.	.	.	.	A	17.96	3.516700	0.64634	.	.	ENSG00000160584	ENST00000375300;ENST00000292055;ENST00000542607;ENST00000434315	T;T;T;T	0.72615	-0.62;-0.65;-0.67;-0.23	5.79	4.66	0.58398	Protein kinase-like domain (1);	0.000000	0.36134	U	0.002766	T	0.66499	0.2795	L	0.29908	0.895	0.80722	D	1	D;P;P	0.53312	0.959;0.929;0.857	P;P;B	0.50192	0.634;0.48;0.396	T	0.68401	-0.5418	10	0.62326	D	0.03	.	11.844	0.52374	0.9311:0.0:0.0689:0.0	.	475;422;523	A1A5A8;A1A5A9;Q9Y2K2	.;.;SIK3_HUMAN	A	581;523;475;422	ENSP00000364449:V581A;ENSP00000292055:V523A;ENSP00000438108:V475A;ENSP00000415873:V422A	ENSP00000292055:V523A	V	-	2	0	SIK3	116246323	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.658000	0.68003	1.011000	0.39340	0.482000	0.46254	GTG	.		0.542	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164	
ATF7IP	55729	broad.mit.edu;bcgsc.ca	37	12	14577475	14577475	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr12:14577475C>G	ENST00000540793.1	+	1	781	c.626C>G	c.(625-627)cCc>cGc	p.P209R	ATF7IP_ENST00000261168.4_Missense_Mutation_p.P209R|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000544627.1_Missense_Mutation_p.P217R|ATF7IP_ENST00000543189.1_Missense_Mutation_p.P209R|ATF7IP_ENST00000536444.1_Missense_Mutation_p.P209R			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	209					DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TCTAGTGATCCCATCCCAGGT	0.522																																					p.P209R													.	ATF7IP-252	0			c.C626G						.						146.0	120.0	129.0					12																	14577475		2203	4300	6503	SO:0001583	missense	55729	exon2			GTGATCCCATCCC	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.626C>G	12.37:g.14577475C>G	ENSP00000444589:p.Pro209Arg	Somatic	360	0		WXS	Illumina HiSeq	Phase_I	411	14	NM_018179	0	0	6	6	0	F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	37	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.501942	0.44455	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000396279;ENST00000540793	T;T;T;T;T;T	0.22945	2.25;2.26;2.26;2.25;1.93;2.25	5.85	-1.72	0.08107	.	1.330470	0.05048	N	0.477590	T	0.16896	0.0406	L	0.36672	1.1	0.09310	N	1	P;P;B;B;B	0.45078	0.85;0.85;0.432;0.432;0.432	B;B;B;B;B	0.40285	0.325;0.325;0.165;0.165;0.246	T	0.10590	-1.0623	10	0.35671	T	0.21	6.3808	0.7923	0.01059	0.2337:0.3111:0.1143:0.3409	.	217;209;209;209;209	B4E2A2;B4DRL6;G3V1U0;Q6VMQ6;Q6VMQ6-2	.;.;.;MCAF1_HUMAN;.	R	209;209;209;217;209;209	ENSP00000261168:P209R;ENSP00000443179:P209R;ENSP00000445955:P209R;ENSP00000440440:P217R;ENSP00000379575:P209R;ENSP00000444589:P209R	ENSP00000261168:P209R	P	+	2	0	ATF7IP	14468742	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.082000	0.11304	-0.541000	0.06257	-0.150000	0.13652	CCC	.		0.522	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179	
LRRK2	120892	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	40713882	40713882	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr12:40713882A>T	ENST00000298910.7	+	34	4978	c.4920A>T	c.(4918-4920)aaA>aaT	p.K1640N		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1640					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AAAAAAGGAAATTTCCAAAGA	0.358											OREG0003827	type=REGULATORY REGION|Gene=LOC486608|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.K1640N		.											.	LRRK2-533	0			c.A4920T						.						52.0	62.0	59.0					12																	40713882		2199	4296	6495	SO:0001583	missense	120892	exon34			AAGGAAATTTCCA	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.4920A>T	12.37:g.40713882A>T	ENSP00000298910:p.Lys1640Asn	Somatic	52	0	895	WXS	Illumina HiSeq	Phase_I	54	13	NM_198578	0	0	0	0	0	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	A	13.43	2.234808	0.39498	.	.	ENSG00000188906	ENST00000298910	T	0.71698	-0.59	5.55	4.4	0.53042	.	0.305891	0.37393	N	0.002104	T	0.52451	0.1735	L	0.27053	0.805	0.36820	D	0.886366	B;B	0.24823	0.112;0.005	B;B	0.15484	0.013;0.004	T	0.50233	-0.8852	10	0.17832	T	0.49	.	9.2446	0.37518	0.842:0.0:0.158:0.0	.	1640;1640	Q17RV3;Q5S007	.;LRRK2_HUMAN	N	1640	ENSP00000298910:K1640N	ENSP00000298910:K1640N	K	+	3	2	LRRK2	39000149	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	3.468000	0.53086	0.932000	0.37266	0.482000	0.46254	AAA	.		0.358	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513	
LRRK2	120892	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	40745358	40745358	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr12:40745358T>A	ENST00000298910.7	+	44	6457	c.6399T>A	c.(6397-6399)aaT>aaA	p.N2133K		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2133	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ACATTTTGAATTCAGCTGAAT	0.343																																					p.N2133K		.											.	LRRK2-533	0			c.T6399A						.						48.0	48.0	48.0					12																	40745358		2203	4300	6503	SO:0001583	missense	120892	exon44			TTTGAATTCAGCT	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.6399T>A	12.37:g.40745358T>A	ENSP00000298910:p.Asn2133Lys	Somatic	74	0		WXS	Illumina HiSeq	Phase_I	56	6	NM_198578	0	0	18	24	6	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	T	17.95	3.514495	0.64522	.	.	ENSG00000188906	ENST00000298910	T	0.71817	-0.6	6.02	1.09	0.20402	Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.53658	0.1810	N	0.21583	0.68	0.44492	D	0.997434	P;P	0.42692	0.476;0.787	B;B	0.40982	0.246;0.345	T	0.47947	-0.9077	10	0.41790	T	0.15	.	9.6792	0.40059	0.0:0.4062:0.0:0.5938	.	2133;2133	Q17RV3;Q5S007	.;LRRK2_HUMAN	K	2133	ENSP00000298910:N2133K	ENSP00000298910:N2133K	N	+	3	2	LRRK2	39031625	0.999000	0.42202	1.000000	0.80357	0.991000	0.79684	0.493000	0.22451	0.196000	0.20367	0.529000	0.55759	AAT	.		0.343	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513	
KRT79	338785	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	53225246	53225246	+	Silent	SNP	C	C	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr12:53225246C>A	ENST00000330553.5	-	2	676	c.642G>T	c.(640-642)ggG>ggT	p.G214G		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	214	Coil 1B.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGTCCAGCCTCCCCCGCTCGC	0.617																																					p.G214G		.											.	KRT79-72	0			c.G642T						.						114.0	114.0	114.0					12																	53225246		2203	4300	6503	SO:0001819	synonymous_variant	338785	exon2			CAGCCTCCCCCGC	AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28930	protein-coding gene	gene with protein product	"""keratin 6-like"""	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.642G>T	12.37:g.53225246C>A		Somatic	101	0		WXS	Illumina HiSeq	Phase_I	111	27	NM_175834	0	0	0	0	0	Q6P465|Q7Z793	Silent	SNP	ENST00000330553.5	37	CCDS8839.1																																																																																			.		0.617	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1	NM_175834	
GPR182	11318	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	57389791	57389791	+	Silent	SNP	C	C	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr12:57389791C>G	ENST00000300098.1	+	2	1017	c.798C>G	c.(796-798)gtC>gtG	p.V266V	RP11-474N8.5_ENST00000556850.1_RNA|HBCBP_ENST00000600202.1_5'Flank	NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	266					cell surface receptor signaling pathway (GO:0007166)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						ACGTGGCCGTCTTTGTCATGT	0.617																																					p.V266V		.											.	GPR182-500	0			c.C798G						.						168.0	145.0	153.0					12																	57389791		2203	4300	6503	SO:0001819	synonymous_variant	11318	exon2			GGCCGTCTTTGTC	Y13583	CCDS8927.1	12q13.3	2012-08-21	2007-09-24	2007-09-24		ENSG00000166856		"""GPCR / Class A : Orphans"""	13708	protein-coding gene	gene with protein product		605307	"""adrenomedullin receptor"""	ADMR		9367907, 9535752	Standard	NM_007264		Approved	hrhAMR, G10D, AM-R	uc001smk.3	O15218		ENST00000300098.1:c.798C>G	12.37:g.57389791C>G		Somatic	46	0		WXS	Illumina HiSeq	Phase_I	67	18	NM_007264	0	0	0	0	0		Silent	SNP	ENST00000300098.1	37	CCDS8927.1																																																																																			.		0.617	GPR182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411212.1	NM_007264	
KIF5A	3798	broad.mit.edu	37	12	57965901	57965901	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr12:57965901C>T	ENST00000455537.2	+	14	1694	c.1420C>T	c.(1420-1422)Caa>Taa	p.Q474*	KIF5A_ENST00000286452.5_Nonsense_Mutation_p.Q385*	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	474					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GAGCCACCTGCAATCAGAGAA	0.582																																					p.Q474X													.	KIF5A-517	0			c.C1420T						.						81.0	73.0	76.0					12																	57965901		2202	4300	6502	SO:0001587	stop_gained	3798	exon14			CACCTGCAATCAG	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.1420C>T	12.37:g.57965901C>T	ENSP00000408979:p.Gln474*	Somatic	101	0		WXS	Illumina HiSeq	Phase_I	112	5	NM_004984	0	0	0	0	0	A6H8M5|Q4LE26	Nonsense_Mutation	SNP	ENST00000455537.2	37	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	C	40	8.293642	0.98747	.	.	ENSG00000155980	ENST00000455537;ENST00000286452	.	.	.	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	17.4472	0.87581	0.0:1.0:0.0:0.0	.	.	.	.	X	474;385	.	ENSP00000286452:Q385X	Q	+	1	0	KIF5A	56252168	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.651000	0.83577	2.749000	0.94314	0.655000	0.94253	CAA	.		0.582	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984	
IFT88	8100	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	13	21163994	21163994	+	Silent	SNP	T	T	C			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr13:21163994T>C	ENST00000319980.6	+	6	552	c.225T>C	c.(223-225)gcT>gcC	p.A75A	IFT88_ENST00000351808.5_Silent_p.A66A|IFT88_ENST00000382778.4_Silent_p.A75A|IFT88_ENST00000537103.1_Intron	NM_175605.3	NP_783195.2	Q13099	IFT88_HUMAN	intraflagellar transport 88	75					anterior/posterior pattern specification (GO:0009952)|cardiac muscle cell differentiation (GO:0055007)|cardiac septum morphogenesis (GO:0060411)|cilium morphogenesis (GO:0060271)|cochlea development (GO:0090102)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|embryonic digit morphogenesis (GO:0042733)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|epithelial cell morphogenesis (GO:0003382)|eye development (GO:0001654)|forebrain morphogenesis (GO:0048853)|heart formation (GO:0060914)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|liver development (GO:0001889)|lung vasculature development (GO:0060426)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|protein localization (GO:0008104)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of cilium assembly (GO:1902017)|regulation of fat cell differentiation (GO:0045598)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of protein processing (GO:0070613)|regulation of smoothened signaling pathway (GO:0008589)|response to fluid shear stress (GO:0034405)|smoothened signaling pathway (GO:0007224)|sperm axoneme assembly (GO:0007288)|spermatid nucleus elongation (GO:0007290)|spinal cord dorsal/ventral patterning (GO:0021513)|telencephalon development (GO:0021537)	acrosomal membrane (GO:0002080)|apical part of cell (GO:0045177)|axonemal basal plate (GO:0097541)|centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|kinocilium (GO:0060091)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		GACCTATAGCTACTGGATATG	0.328																																					p.A75A		.											.	IFT88-91	0			c.T225C						.						81.0	82.0	82.0					13																	21163994		2203	4299	6502	SO:0001819	synonymous_variant	8100	exon6			TATAGCTACTGGA	AK058172	CCDS31944.1, CCDS31945.1	13q12.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000032742	ENSG00000032742		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	20606	protein-coding gene	gene with protein product	"""polaris homolog"""	600595	"""tetratricopeptide repeat domain 10"", ""intraflagellar transport 88 homolog (Chlamydomonas)"""	TTC10		7633404	Standard	XM_005266546		Approved	hTg737, Tg737, D13S1056E, MGC26259	uc001uni.3	Q13099	OTTHUMG00000016517	ENST00000319980.6:c.225T>C	13.37:g.21163994T>C		Somatic	61	0		WXS	Illumina HiSeq	Phase_I	56	6	NM_175605	0	0	0	0	0	A2A491|B4DUS2|Q5SZJ6|Q8N719	Silent	SNP	ENST00000319980.6	37	CCDS31944.1																																																																																			.		0.328	IFT88-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044075.3	NM_006531	
USP12	219333	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	13	27664060	27664060	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr13:27664060A>T	ENST00000282344.6	-	6	950	c.694T>A	c.(694-696)Tac>Aac	p.Y232N		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	232	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		TCTTCACAGTAATACTTGTAT	0.338																																					p.Y232N	Ovarian(37;808 911 7590 44442 44991)	.											.	USP12-522	0			c.T694A						.						63.0	62.0	62.0					13																	27664060		2203	4300	6503	SO:0001583	missense	219333	exon6			CACAGTAATACTT	AL049221	CCDS31952.1	13q12.13	2010-05-12	2005-08-08	2003-10-08	ENSG00000152484	ENSG00000152484		"""Ubiquitin-specific peptidases"""	20485	protein-coding gene	gene with protein product			"""ubiquitin specific protease 12 like 1"", ""ubiquitin specific protease 12"""	USP12L1		12838346	Standard	NM_182488		Approved		uc001uqy.3	O75317	OTTHUMG00000016626	ENST00000282344.6:c.694T>A	13.37:g.27664060A>T	ENSP00000282344:p.Tyr232Asn	Somatic	110	0		WXS	Illumina HiSeq	Phase_I	115	39	NM_182488	0	0	1	2	1	A8K0X0|Q5VZV3|Q8TC49	Missense_Mutation	SNP	ENST00000282344.6	37	CCDS31952.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.459009	0.84317	.	.	ENSG00000152484	ENST00000282344	T	0.05649	3.41	5.22	5.22	0.72569	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.16085	0.0387	L	0.42686	1.345	0.80722	D	1	D	0.57571	0.98	P	0.60541	0.876	T	0.00575	-1.1663	10	0.49607	T	0.09	-15.958	15.4004	0.74834	1.0:0.0:0.0:0.0	.	232	O75317	UBP12_HUMAN	N	232	ENSP00000282344:Y232N	ENSP00000282344:Y232N	Y	-	1	0	USP12	26562060	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.803000	0.91915	2.113000	0.64589	0.482000	0.46254	TAC	.		0.338	USP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044264.1	NM_182488	
DIAPH3	81624	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	13	60686191	60686191	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr13:60686191T>C	ENST00000400324.4	-	3	563	c.343A>G	c.(343-345)Aag>Gag	p.K115E	DIAPH3_ENST00000377908.2_Missense_Mutation_p.K104E|DIAPH3_ENST00000267215.4_Missense_Mutation_p.K115E|DIAPH3_ENST00000400319.1_Intron|DIAPH3_ENST00000400330.1_Missense_Mutation_p.K115E|DIAPH3_ENST00000400320.1_Missense_Mutation_p.K104E	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	115	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		GACAGTGGCTTTGGAAAGTTC	0.403																																					p.K115E		.											.	DIAPH3-516	0			c.A343G						.						162.0	151.0	154.0					13																	60686191		1840	4095	5935	SO:0001583	missense	81624	exon3			GTGGCTTTGGAAA	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.343A>G	13.37:g.60686191T>C	ENSP00000383178:p.Lys115Glu	Somatic	136	0		WXS	Illumina HiSeq	Phase_I	88	21	NM_001042517	0	0	0	0	0	A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	ENST00000400324.4	37	CCDS41898.1	.	.	.	.	.	.	.	.	.	.	T	6.162	0.398114	0.11696	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000377908;ENST00000400320;ENST00000267215;ENST00000453990	D;D;D;D;D	0.89485	-2.52;-2.52;-2.52;-1.93;-2.52	5.82	5.82	0.92795	GTPase-binding/formin homology 3 (1);Diaphanous GTPase-binding (1);	0.059630	0.64402	D	0.000004	D	0.82467	0.5043	N	0.25647	0.755	0.33949	D	0.644161	P;P;P	0.50819	0.704;0.485;0.939	B;B;P	0.45753	0.084;0.266;0.492	T	0.82212	-0.0569	10	0.02654	T	1	.	15.1658	0.72825	0.0:0.0:0.0:1.0	.	104;104;115	C9JL55;C9JDG1;Q9NSV4	.;.;DIAP3_HUMAN	E	115;115;104;104;104;104;115;115	ENSP00000383178:K115E;ENSP00000383184:K115E;ENSP00000367141:K104E;ENSP00000383174:K104E;ENSP00000267215:K115E	ENSP00000267215:K115E	K	-	1	0	DIAPH3	59584192	1.000000	0.71417	0.998000	0.56505	0.220000	0.24768	4.210000	0.58500	2.228000	0.72767	0.533000	0.62120	AAG	.		0.403	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517	
AJUBA	84962	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	23444254	23444254	+	Silent	SNP	G	G	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr14:23444254G>A	ENST00000262713.2	-	5	1674	c.1299C>T	c.(1297-1299)aaC>aaT	p.N433N	AJUBA_ENST00000397388.3_Silent_p.N16N|AJUBA_ENST00000361265.4_Silent_p.N433N|RP11-298I3.5_ENST00000555074.1_Intron	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	433	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										CCAGGCACTTGTTGCAAACAA	0.522																																					p.N433N		.											.	.	0			c.C1299T						.						149.0	136.0	141.0					14																	23444254		2203	4300	6503	SO:0001819	synonymous_variant	84962	exon5			GCACTTGTTGCAA	AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"""jub, ajuba homolog (Xenopus laevis)"""	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.1299C>T	14.37:g.23444254G>A		Somatic	58	0		WXS	Illumina HiSeq	Phase_I	75	23	NM_032876	0	0	2	7	5	A8MX18|D3DS37	Silent	SNP	ENST00000262713.2	37	CCDS9581.1																																																																																			.		0.522	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2		
SAV1	60485	broad.mit.edu	37	14	51132275	51132275	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr14:51132275G>A	ENST00000324679.4	-	2	520	c.157C>T	c.(157-159)Cca>Tca	p.P53S	RP11-248J18.2_ENST00000602954.1_RNA	NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN	salvador family WW domain containing protein 1	53					hair follicle development (GO:0001942)|hippo signaling (GO:0035329)|intestinal epithelial cell differentiation (GO:0060575)|keratinocyte differentiation (GO:0030216)|lung epithelial cell differentiation (GO:0060487)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of epithelial cell proliferation (GO:0050680)|positive regulation of apoptotic process (GO:0043065)|regulation of stem cell maintenance (GO:2000036)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)				breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					CTTGAATCTGGAAGACAGATA	0.368																																					p.P53S													.	SAV1-658	0			c.C157T						.						40.0	40.0	40.0					14																	51132275		2203	4299	6502	SO:0001583	missense	60485	exon2			AATCTGGAAGACA	AK023071	CCDS9701.1	14q13-q23	2014-04-14	2014-04-14		ENSG00000151748	ENSG00000151748			17795	protein-coding gene	gene with protein product	"""WW domain-containing adaptor 45"""	607203	"""salvador homolog 1 (Drosophila)"""			12202036, 11027580	Standard	NM_021818		Approved	WW45, WWP4, salvador	uc001wyh.2	Q9H4B6	OTTHUMG00000140293	ENST00000324679.4:c.157C>T	14.37:g.51132275G>A	ENSP00000324729:p.Pro53Ser	Somatic	171	0		WXS	Illumina HiSeq	Phase_I	164	4	NM_021818	0	0	6	6	0	A8K4B8|D3DSB6|Q6IA58|Q9H949|Q9HAK9	Missense_Mutation	SNP	ENST00000324679.4	37	CCDS9701.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.315813	0.60524	.	.	ENSG00000151748	ENST00000324679;ENST00000535862	T	0.40756	1.02	5.14	5.14	0.70334	.	0.052841	0.85682	D	0.000000	T	0.31575	0.0801	L	0.34521	1.04	0.80722	D	1	P	0.37781	0.608	B	0.30401	0.115	T	0.08554	-1.0716	10	0.28530	T	0.3	-3.0154	17.5884	0.87989	0.0:0.0:1.0:0.0	.	53	Q9H4B6	SAV1_HUMAN	S	53;20	ENSP00000324729:P53S	ENSP00000324729:P53S	P	-	1	0	SAV1	50202025	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.405000	0.97313	2.397000	0.81536	0.563000	0.77884	CCA	.		0.368	SAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276879.1		
NRDE2	55051	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	90769186	90769186	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr14:90769186C>T	ENST00000354366.3	-	6	1521	c.1289G>A	c.(1288-1290)aGt>aAt	p.S430N	NRDE2_ENST00000357904.3_Missense_Mutation_p.S199N	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	430																	CGAAAAGGTACTAAACTGGCT	0.423																																					p.S430N		.											.	.	0			c.G1289A						.						69.0	72.0	71.0					14																	90769186		2203	4300	6503	SO:0001583	missense	55051	exon6			AAGGTACTAAACT	AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 102"""	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.1289G>A	14.37:g.90769186C>T	ENSP00000346335:p.Ser430Asn	Somatic	87	0		WXS	Illumina HiSeq	Phase_I	97	16	NM_017970	0	0	2	3	1	B4DH71|Q4G0A7|Q9NWH6	Missense_Mutation	SNP	ENST00000354366.3	37	CCDS9890.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364312	0.82463	.	.	ENSG00000119720	ENST00000354366;ENST00000357904	T;T	0.35973	1.69;1.28	5.51	5.51	0.81932	Domain of unknown function DUF1740 (1);	0.041947	0.85682	D	0.000000	T	0.55986	0.1955	M	0.69185	2.1	0.53005	D	0.999965	D	0.61697	0.99	D	0.63381	0.914	T	0.52124	-0.8617	10	0.38643	T	0.18	-16.8351	16.4406	0.83900	0.0:0.8691:0.1309:0.0	.	430	Q9H7Z3	CN102_HUMAN	N	430;199	ENSP00000346335:S430N;ENSP00000350579:S199N	ENSP00000346335:S430N	S	-	2	0	C14orf102	89838939	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.785000	0.68998	2.586000	0.87340	0.650000	0.86243	AGT	.		0.423	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411264.1	NM_017970	
THBS1	7057	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	39886356	39886356	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr15:39886356C>A	ENST00000260356.5	+	20	3489	c.3324C>A	c.(3322-3324)taC>taA	p.Y1108*	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1108	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		TCACCGCCTACAGATGGCGTC	0.478																																					p.Y1108X		.											.	THBS1-653	0			c.C3324A						.						63.0	61.0	62.0					15																	39886356		2200	4297	6497	SO:0001587	stop_gained	7057	exon20			CGCCTACAGATGG		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.3324C>A	15.37:g.39886356C>A	ENSP00000260356:p.Tyr1108*	Somatic	192	0		WXS	Illumina HiSeq	Phase_I	194	47	NM_003246	0	0	2	2	0	A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Nonsense_Mutation	SNP	ENST00000260356.5	37	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	C	44	10.984739	0.99499	.	.	ENSG00000137801	ENST00000260356	.	.	.	5.83	4.92	0.64577	.	0.000000	0.32852	N	0.005571	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-38.5548	14.6654	0.68904	0.0:0.9305:0.0:0.0695	.	.	.	.	X	1108	.	ENSP00000260356:Y1108X	Y	+	3	2	THBS1	37673648	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.078000	0.57606	1.468000	0.48064	0.655000	0.94253	TAC	.		0.478	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246	
MYO9A	4649	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	72190908	72190908	+	Silent	SNP	A	A	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr15:72190908A>G	ENST00000356056.5	-	25	4408	c.3936T>C	c.(3934-3936)ccT>ccC	p.P1312P	MYO9A_ENST00000444904.1_Silent_p.P1293P|MYO9A_ENST00000564571.1_Silent_p.P1312P|MYO9A_ENST00000566885.1_Silent_p.P932P|MYO9A_ENST00000424560.1_Silent_p.P1312P|MYO9A_ENST00000563542.1_5'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1312	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GAAGGCCTTCAGGCACCAATT	0.453																																					p.P1312P		.											.	MYO9A-93	0			c.T3936C						.						113.0	113.0	113.0					15																	72190908		2199	4297	6496	SO:0001819	synonymous_variant	4649	exon25			GCCTTCAGGCACC	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.3936T>C	15.37:g.72190908A>G		Somatic	133	0		WXS	Illumina HiSeq	Phase_I	120	41	NM_006901	0	0	0	0	0	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Silent	SNP	ENST00000356056.5	37	CCDS10239.1																																																																																			.		0.453	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901	
IGFALS	3483	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	1837701	1837701	+	IGR	SNP	G	G	T	rs533118487		TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr16:1837701G>T	ENST00000215539.3	-	0	2116				NUBP2_ENST00000565987.1_Missense_Mutation_p.D60Y|NUBP2_ENST00000262302.9_Missense_Mutation_p.D120Y|NUBP2_ENST00000565134.1_Missense_Mutation_p.D120Y|NUBP2_ENST00000543305.1_5'UTR|NUBP2_ENST00000568706.1_5'UTR			P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit						cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						GTTTGTGTCCGACGTGGCCTG	0.662																																					p.D120Y		.											.	NUBP2-90	0			c.G358T						.						80.0	83.0	82.0					16																	1837701		2199	4300	6499	SO:0001628	intergenic_variant	10101	exon4			GTGTCCGACGTGG	M86826	CCDS10446.1, CCDS53982.1	16p13.3	2008-07-28			ENSG00000099769	ENSG00000099769			5468	protein-coding gene	gene with protein product		601489				1379671, 16114275	Standard	NM_004970		Approved	ALS	uc010uvn.2	P35858	OTTHUMG00000128638		16.37:g.1837701G>T		Somatic	42	0		WXS	Illumina HiSeq	Phase_I	105	33	NM_012225	0	1	47	80	32	B4DZY8|E9PGU3	Missense_Mutation	SNP	ENST00000215539.3	37	CCDS10446.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468399	0.84533	.	.	ENSG00000095906	ENST00000262302	T	0.42131	0.98	4.16	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.70885	0.3275	M	0.91818	3.245	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79500	-0.1778	10	0.87932	D	0	-5.4419	15.1837	0.72982	0.0:0.0:1.0:0.0	.	120	Q9Y5Y2	NUBP2_HUMAN	Y	120	ENSP00000262302:D120Y	ENSP00000262302:D120Y	D	+	1	0	NUBP2	1777702	1.000000	0.71417	0.736000	0.30914	0.976000	0.68499	6.078000	0.71282	2.167000	0.68274	0.561000	0.74099	GAC	.		0.662	IGFALS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250509.2		
OR1F1	4992	broad.mit.edu	37	16	3254884	3254884	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr16:3254884G>T	ENST00000304646.2	+	1	638	c.638G>T	c.(637-639)tGc>tTc	p.C213F	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	213					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						CCATTTCTTTGCATCCTGGCT	0.512																																					p.C213F													.	OR1F1-68	0			c.G638T						.						184.0	157.0	166.0					16																	3254884		2197	4300	6497	SO:0001583	missense	4992	exon1			TTCTTTGCATCCT	Y14442	CCDS10496.1	16p13.3	2012-08-09			ENSG00000168124	ENSG00000168124		"""GPCR / Class A : Olfactory receptors"""	8194	protein-coding gene	gene with protein product		603232		OR1F4, OR1F6, OR1F7, OR1F8, OR1F9, OR1F5, OR1F10, OR1F13P		9288094, 9500546	Standard	NM_012360		Approved	Olfmf, OR16-36, OR16-37, OR16-88, OR16-89, OR16-90, OLFMF, OR3-145	uc010uwu.2	O43749	OTTHUMG00000133153	ENST00000304646.2:c.638G>T	16.37:g.3254884G>T	ENSP00000305424:p.Cys213Phe	Somatic	202	0		WXS	Illumina HiSeq	Phase_I	321	8	NM_012360	0	0	1	1	0	O15246|Q6IFL5	Missense_Mutation	SNP	ENST00000304646.2	37	CCDS10496.1	.	.	.	.	.	.	.	.	.	.	G	8.341	0.828811	0.16749	.	.	ENSG00000168124	ENST00000304646	T	0.36157	1.27	5.06	4.11	0.48088	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000007	T	0.25901	0.0631	N	0.20530	0.585	0.34276	D	0.681611	B	0.21905	0.062	B	0.34418	0.182	T	0.29579	-1.0007	10	0.54805	T	0.06	.	6.4906	0.22113	0.094:0.0:0.727:0.179	.	213	O43749	OR1F1_HUMAN	F	213	ENSP00000305424:C213F	ENSP00000305424:C213F	C	+	2	0	OR1F1	3194885	0.028000	0.19301	0.901000	0.35422	0.473000	0.32948	2.234000	0.43035	1.119000	0.41883	0.393000	0.25936	TGC	.		0.512	OR1F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206985.1		
HMOX2	3163	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	4557884	4557884	+	Silent	SNP	G	G	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr16:4557884G>T	ENST00000570646.1	+	4	980	c.375G>T	c.(373-375)gtG>gtT	p.V125V	HMOX2_ENST00000575120.1_Silent_p.V96V|HMOX2_ENST00000458134.3_Silent_p.V125V|HMOX2_ENST00000219700.6_Silent_p.V125V|HMOX2_ENST00000414777.1_Silent_p.V125V|HMOX2_ENST00000406590.2_Silent_p.V125V|HMOX2_ENST00000398595.3_Silent_p.V125V	NM_002134.3	NP_002125.3	P30519	HMOX2_HUMAN	heme oxygenase (decycling) 2	125					cellular iron ion homeostasis (GO:0006879)|heme catabolic process (GO:0042167)|heme oxidation (GO:0006788)|porphyrin-containing compound metabolic process (GO:0006778)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heme oxygenase (decyclizing) activity (GO:0004392)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8						AGGAGCAGGTGCAGTGCCCCA	0.582																																					p.V125V		.											.	HMOX2-90	0			c.G375T						.						59.0	55.0	57.0					16																	4557884		2197	4300	6497	SO:0001819	synonymous_variant	3163	exon4			GCAGGTGCAGTGC		CCDS10517.1, CCDS66931.1, CCDS73818.1	16p13.3	2008-02-05			ENSG00000103415	ENSG00000103415	1.14.99.3		5014	protein-coding gene	gene with protein product		141251				1575508	Standard	NM_002134		Approved	HO-2	uc002cwq.4	P30519	OTTHUMG00000129473	ENST00000570646.1:c.375G>T	16.37:g.4557884G>T		Somatic	126	0		WXS	Illumina HiSeq	Phase_I	254	39	NM_001127205	0	0	89	112	23	A8MT35|D3DUD5|I3L430|O60605	Silent	SNP	ENST00000570646.1	37	CCDS10517.1																																																																																			.		0.582	HMOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251636.2		
RRN3	54700	broad.mit.edu	37	16	15188060	15188060	+	Missense_Mutation	SNP	G	G	A	rs201504364		TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr16:15188060G>A	ENST00000198767.6	-	1	114	c.31C>T	c.(31-33)Ccg>Tcg	p.P11S	RRN3_ENST00000327307.7_5'Flank|RRN3_ENST00000563559.1_Missense_Mutation_p.P11S|RRN3_ENST00000564131.1_Missense_Mutation_p.P11S|RRN3_ENST00000429751.2_Missense_Mutation_p.P11S|PDXDC1_ENST00000535621.2_Intron|RP11-72I8.1_ENST00000569858.1_RNA	NM_018427.3	NP_060897.3	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)	11					cell proliferation (GO:0008283)|cytoplasm organization (GO:0007028)|gene expression (GO:0010467)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)|nucleolus organization (GO:0007000)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, initiation (GO:2000142)|ribosome biogenesis (GO:0042254)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.P11S(3)		NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						GCATCTCCCGGCAAACGCGTG	0.637																																					p.P11S													.	RRN3-91	3	Substitution - Missense(3)	lung(1)|prostate(1)|central_nervous_system(1)	c.C31T						.						15.0	14.0	14.0					16																	15188060		2193	4294	6487	SO:0001583	missense	54700	exon1			CTCCCGGCAAACG	AF227156	CCDS10559.1, CCDS73833.1	16p13.11	2009-10-26	2006-04-04		ENSG00000085721	ENSG00000085721			30346	protein-coding gene	gene with protein product		605121	"""RRN3 RNA polymerase I transcription factor homolog (yeast)"""			10758157, 11250903	Standard	XM_005255375		Approved	DKFZp566E104	uc002dde.3	Q9NYV6	OTTHUMG00000129847	ENST00000198767.6:c.31C>T	16.37:g.15188060G>A	ENSP00000198767:p.Pro11Ser	Somatic	79	0		WXS	Illumina HiSeq	Phase_I	168	5	NM_018427	0	0	15	15	0	A2RTY9|B4E0J7|B4E3T2|Q3MHU9|Q6IPL4|Q9H4F0	Missense_Mutation	SNP	ENST00000198767.6	37	CCDS10559.1	.	.	.	.	.	.	.	.	.	.	.	10.34	1.323150	0.24080	.	.	ENSG00000085721	ENST00000198767;ENST00000429751	T;T	0.46819	1.02;0.86	3.13	0.948	0.19561	.	.	.	.	.	T	0.19485	0.0468	N	0.08118	0	0.09310	N	0.999994	B;B;B	0.10296	0.0;0.003;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.26538	-1.0100	9	0.06494	T	0.89	.	3.8332	0.08883	0.1556:0.2546:0.5898:0.0	.	11;11;11	F5H148;Q3MHU9;Q9NYV6	.;.;RRN3_HUMAN	S	11	ENSP00000198767:P11S;ENSP00000402027:P11S	ENSP00000198767:P11S	P	-	1	0	RRN3	15095561	0.001000	0.12720	0.003000	0.11579	0.038000	0.13279	0.733000	0.26087	0.121000	0.18284	0.305000	0.20034	CCG	G|0.997;A|0.003		0.637	RRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252087.2	NM_018427	
RRN3	54700	broad.mit.edu	37	16	15188066	15188066	+	Missense_Mutation	SNP	G	G	A	rs200006712		TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr16:15188066G>A	ENST00000198767.6	-	1	108	c.25C>T	c.(25-27)Cgt>Tgt	p.R9C	RRN3_ENST00000327307.7_5'Flank|RRN3_ENST00000563559.1_Missense_Mutation_p.R9C|RRN3_ENST00000564131.1_Missense_Mutation_p.R9C|RRN3_ENST00000429751.2_Missense_Mutation_p.R9C|PDXDC1_ENST00000535621.2_Intron|RP11-72I8.1_ENST00000569858.1_RNA	NM_018427.3	NP_060897.3	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)	9					cell proliferation (GO:0008283)|cytoplasm organization (GO:0007028)|gene expression (GO:0010467)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)|nucleolus organization (GO:0007000)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, initiation (GO:2000142)|ribosome biogenesis (GO:0042254)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.R9C(3)		NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						CCCGGCAAACGCGTGTGAAGC	0.642																																					p.R9C													.	RRN3-91	3	Substitution - Missense(3)	lung(1)|prostate(1)|central_nervous_system(1)	c.C25T						.						15.0	13.0	14.0					16																	15188066		2194	4290	6484	SO:0001583	missense	54700	exon1			GCAAACGCGTGTG	AF227156	CCDS10559.1, CCDS73833.1	16p13.11	2009-10-26	2006-04-04		ENSG00000085721	ENSG00000085721			30346	protein-coding gene	gene with protein product		605121	"""RRN3 RNA polymerase I transcription factor homolog (yeast)"""			10758157, 11250903	Standard	XM_005255375		Approved	DKFZp566E104	uc002dde.3	Q9NYV6	OTTHUMG00000129847	ENST00000198767.6:c.25C>T	16.37:g.15188066G>A	ENSP00000198767:p.Arg9Cys	Somatic	74	0		WXS	Illumina HiSeq	Phase_I	153	5	NM_018427	0	0	13	13	0	A2RTY9|B4E0J7|B4E3T2|Q3MHU9|Q6IPL4|Q9H4F0	Missense_Mutation	SNP	ENST00000198767.6	37	CCDS10559.1	.	.	.	.	.	.	.	.	.	.	.	18.86	3.712820	0.68730	.	.	ENSG00000085721	ENST00000198767;ENST00000429751	T;T	0.59906	0.68;0.23	3.13	3.13	0.36017	.	.	.	.	.	T	0.59032	0.2164	N	0.19112	0.55	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.77557	0.988;0.99;0.982	T	0.62627	-0.6814	9	0.87932	D	0	.	9.8894	0.41281	0.0:0.0:1.0:0.0	.	9;9;9	F5H148;Q3MHU9;Q9NYV6	.;.;RRN3_HUMAN	C	9	ENSP00000198767:R9C;ENSP00000402027:R9C	ENSP00000198767:R9C	R	-	1	0	RRN3	15095567	1.000000	0.71417	0.965000	0.40720	0.035000	0.12851	2.717000	0.47227	1.752000	0.51891	0.305000	0.20034	CGT	G|0.997;A|0.003		0.642	RRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252087.2	NM_018427	
SMG1	23049	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	18861438	18861438	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr16:18861438T>C	ENST00000446231.2	-	35	5706	c.5294A>G	c.(5293-5295)gAt>gGt	p.D1765G	SMG1_ENST00000389467.3_Missense_Mutation_p.D1765G			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1765	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						GTCATCCTCATCTAAAGGAAT	0.388																																					p.D1765G		.											.	SMG1-1160	0			c.A5294G						.						64.0	62.0	63.0					16																	18861438		1955	4154	6109	SO:0001583	missense	23049	exon35			TCCTCATCTAAAG	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.5294A>G	16.37:g.18861438T>C	ENSP00000402515:p.Asp1765Gly	Somatic	218	0		WXS	Illumina HiSeq	Phase_I	298	99	NM_015092	0	0	0	0	0	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	T	17.47	3.398251	0.62177	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.68479	-0.33;-0.33	5.83	5.83	0.93111	PIK-related kinase (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000002	T	0.68265	0.2982	N	0.14661	0.345	0.50313	D	0.999861	D;D	0.67145	0.996;0.993	D;D	0.74674	0.981;0.984	T	0.68187	-0.5475	10	0.27785	T	0.31	.	16.1982	0.82046	0.0:0.0:0.0:1.0	.	1625;1765	Q96Q15-2;Q96Q15	.;SMG1_HUMAN	G	1765	ENSP00000402515:D1765G;ENSP00000374118:D1765G	ENSP00000374118:D1765G	D	-	2	0	SMG1	18768939	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	5.891000	0.69782	2.226000	0.72624	0.533000	0.62120	GAT	.		0.388	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092	
ACSM2B	348158	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	20559488	20559488	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr16:20559488G>A	ENST00000329697.6	-	8	1162	c.994C>T	c.(994-996)Cag>Tag	p.Q332*	ACSM2B_ENST00000567001.1_Nonsense_Mutation_p.Q332*|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565232.1_Nonsense_Mutation_p.Q332*|ACSM2B_ENST00000565322.1_Nonsense_Mutation_p.Q253*	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	332					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						AGGCAGTTCTGTAGATGGGGG	0.522																																					p.Q332X		.											.	ACSM2B-94	0			c.C994T						.						118.0	124.0	122.0					16																	20559488		2201	4300	6501	SO:0001587	stop_gained	348158	exon9			AGTTCTGTAGATG	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.994C>T	16.37:g.20559488G>A	ENSP00000327453:p.Gln332*	Somatic	109	0		WXS	Illumina HiSeq	Phase_I	146	39	NM_182617	1	0	181	196	14	Q86YT1	Nonsense_Mutation	SNP	ENST00000329697.6	37	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	G	31	5.065183	0.93898	.	.	ENSG00000066813	ENST00000329697	.	.	.	3.37	-1.99	0.07457	.	1.249910	0.05709	N	0.595506	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-0.7319	14.1154	0.65149	0.0:0.0:0.2719:0.7281	.	.	.	.	X	332	.	ENSP00000327453:Q332X	Q	-	1	0	ACSM2B	20466989	0.000000	0.05858	0.015000	0.15790	0.297000	0.27493	-0.804000	0.04535	-0.475000	0.06852	-0.407000	0.06327	CAG	.		0.522	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617	
SLC7A6OS	84138	broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	68338097	68338097	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr16:68338097C>G	ENST00000263997.6	-	3	528	c.510G>C	c.(508-510)gaG>gaC	p.E170D		NM_032178.2	NP_115554.2	Q96CW6	S7A6O_HUMAN	solute carrier family 7, member 6 opposite strand	170					hematopoietic progenitor cell differentiation (GO:0002244)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)		CACGGATCAACTCTACAGAAT	0.458																																					p.E170D													.	SLC7A6OS-91	0			c.G510C						.						160.0	150.0	153.0					16																	68338097		2198	4300	6498	SO:0001583	missense	84138	exon3			GATCAACTCTACA		CCDS10865.1	16q22.1	2010-03-11			ENSG00000103061	ENSG00000103061			25807	protein-coding gene	gene with protein product							Standard	NM_032178		Approved	FLJ13291	uc002evw.2	Q96CW6	OTTHUMG00000137558	ENST00000263997.6:c.510G>C	16.37:g.68338097C>G	ENSP00000263997:p.Glu170Asp	Somatic	208	1		WXS	Illumina HiSeq	Phase_I	300	101	NM_032178	0	0	4	7	3	Q8TCZ3|Q9H8R8	Missense_Mutation	SNP	ENST00000263997.6	37	CCDS10865.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156070	0.78114	.	.	ENSG00000103061	ENST00000263997	T	0.19105	2.17	5.72	3.74	0.42951	.	0.190127	0.53938	D	0.000045	T	0.22244	0.0536	M	0.64997	1.995	0.35818	D	0.824418	P	0.35272	0.493	B	0.36845	0.234	T	0.18116	-1.0347	10	0.49607	T	0.09	-16.8805	8.1366	0.31058	0.0:0.7519:0.0:0.2481	.	170	Q96CW6	S7A6O_HUMAN	D	170	ENSP00000263997:E170D	ENSP00000263997:E170D	E	-	3	2	SLC7A6OS	66895598	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	2.762000	0.47597	0.754000	0.32968	0.505000	0.49811	GAG	.		0.458	SLC7A6OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268894.3	NM_032178	
KLHDC4	54758	broad.mit.edu	37	16	87764193	87764193	+	Silent	SNP	T	T	C	rs191241806		TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr16:87764193T>C	ENST00000270583.5	-	6	622	c.564A>G	c.(562-564)caA>caG	p.Q188Q	KLHDC4_ENST00000353170.5_Silent_p.Q131Q|KLHDC4_ENST00000347925.5_Intron|KLHDC4_ENST00000566349.1_5'UTR	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	188										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		ACAGGATCAATTGTCTCTTCC	0.428													T|||	1	0.000199681	0.0008	0.0	5008	,	,		18118	0.0		0.0	False		,,,				2504	0.0				p.Q188Q													.	KLHDC4-182	0			c.A564G						.	T	,,	1,4395	2.1+/-5.4	0,1,2197	148.0	128.0	134.0		393,,564	-5.0	0.0	16		134	0,8600		0,0,4300	no	coding-synonymous,intron,coding-synonymous	KLHDC4	NM_001184854.1,NM_001184856.1,NM_017566.3	,,	0,1,6497	CC,CT,TT		0.0,0.0227,0.0077	,,	131/464,,188/521	87764193	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	54758	exon6			GATCAATTGTCTC	AK001742	CCDS10963.1, CCDS54050.1, CCDS54051.1	16q24	2008-02-05			ENSG00000104731	ENSG00000104731			25272	protein-coding gene	gene with protein product							Standard	NM_001184854		Approved	DKFZp434G0522	uc002fki.3	Q8TBB5	OTTHUMG00000137657	ENST00000270583.5:c.564A>G	16.37:g.87764193T>C		Somatic	95	0		WXS	Illumina HiSeq	Phase_I	159	3	NM_017566	0	0	29	29	0	D3DUN3|D3DUN4|D3DUN5|Q96F29|Q9BVN3	Silent	SNP	ENST00000270583.5	37	CCDS10963.1																																																																																			T|0.999;C|0.000		0.428	KLHDC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269109.2	NM_017566	
BANP	54971	hgsc.bcm.edu	37	16	88105728	88105728	+	Silent	SNP	G	G	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr16:88105728G>A	ENST00000393207.1	+	13	1619	c.1398G>A	c.(1396-1398)gcG>gcA	p.A466A	BANP_ENST00000481948.1_3'UTR|BANP_ENST00000355022.4_Silent_p.A416A|BANP_ENST00000355163.5_Silent_p.A444A|BANP_ENST00000393208.2_Silent_p.A438A|BANP_ENST00000479780.2_Silent_p.A413A|BANP_ENST00000538234.1_Silent_p.A455A|BANP_ENST00000286122.7_Silent_p.A466A	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	466					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of protein catabolic process (GO:0042177)|protein localization to nucleus (GO:0034504)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		CCGCGGCGGCGGGCGTGGATG	0.711																																					p.A466A		.											.	BANP-226	0			c.G1398A						.						13.0	15.0	14.0					16																	88105728		2187	4283	6470	SO:0001819	synonymous_variant	54971	exon13			GGCGGCGGGCGTG	AK094158	CCDS10966.2, CCDS42215.1, CCDS54052.1, CCDS54053.1, CCDS54054.1	16q24	2012-11-22			ENSG00000172530	ENSG00000172530		"""BEN domain containing"""	13450	protein-coding gene	gene with protein product	"""BEN domain containing 1"""	611564				10940556, 10950932	Standard	NM_017869		Approved	SMARBP1, SMAR1, FLJ20538, DKFZp761H172, FLJ10177, BEND1	uc010vow.2	Q8N9N5	OTTHUMG00000137678	ENST00000393207.1:c.1398G>A	16.37:g.88105728G>A		Somatic	1	0		WXS	Illumina HiSeq	Phase_I	7	6	NM_001173543	0	0	5	7	2	A8MU25|A8MX25|B2RCF7|B4DNJ9|F5GZM0|Q96GJ7|Q9NWY1	Silent	SNP	ENST00000393207.1	37	CCDS54054.1																																																																																			.		0.711	BANP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269166.1	NM_017869	
SMCR8	140775	broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	18226353	18226353	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr17:18226353A>T	ENST00000406438.3	+	2	3263	c.2783A>T	c.(2782-2784)gAc>gTc	p.D928V	RP1-178F10.3_ENST00000577764.1_lincRNA	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	928						nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						CTCAGGTTTGACTATGTCCCC	0.547																																					p.D928V													.	SMCR8-91	0			c.A2783T						.						62.0	61.0	61.0					17																	18226353		1930	4148	6078	SO:0001583	missense	140775	exon2			GGTTTGACTATGT	AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.2783A>T	17.37:g.18226353A>T	ENSP00000385025:p.Asp928Val	Somatic	178	0		WXS	Illumina HiSeq	Phase_I	200	43	NM_144775	0	0	1	2	1	A5PKZ5|Q3ZCN0|Q6PJL3	Missense_Mutation	SNP	ENST00000406438.3	37	CCDS11195.2	.	.	.	.	.	.	.	.	.	.	A	19.81	3.896068	0.72639	.	.	ENSG00000176994	ENST00000406438	T	0.27890	1.64	5.37	5.37	0.77165	.	0.152719	0.41823	U	0.000810	T	0.46054	0.1373	L	0.47716	1.5	0.80722	D	1	D	0.71674	0.998	P	0.60682	0.878	T	0.44682	-0.9312	10	0.87932	D	0	-21.3723	15.3395	0.74284	1.0:0.0:0.0:0.0	.	928	Q8TEV9	SMCR8_HUMAN	V	928	ENSP00000385025:D928V	ENSP00000385025:D928V	D	+	2	0	SMCR8	18167078	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.156000	0.50708	2.171000	0.68590	0.460000	0.39030	GAC	.		0.547	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	NM_144775	
MIEN1	84299	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	37886504	37886504	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr17:37886504T>C	ENST00000394231.3	-	2	421	c.130A>G	c.(130-132)Agt>Ggt	p.S44G	MIEN1_ENST00000577810.1_Missense_Mutation_p.S44G|MIEN1_ENST00000474210.1_Intron|ERBB2_ENST00000584888.1_3'UTR			Q9BRT3	MIEN1_HUMAN	migration and invasion enhancer 1	44					apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell migration (GO:0030335)|positive regulation of filopodium assembly (GO:0051491)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	selenium binding (GO:0008430)										TTCACAGCACTGGCCAGCTCC	0.657											OREG0024383	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S44G		.											.	.	0			c.A130G						.						28.0	31.0	30.0					17																	37886504		2202	4300	6502	SO:0001583	missense	84299	exon2			CAGCACTGGCCAG	AJ308025	CCDS11344.1	17q12	2011-09-21	2011-09-21	2011-09-21	ENSG00000141741	ENSG00000141741			28230	protein-coding gene	gene with protein product		611802	"""chromosome 17 open reading frame 37"""	C17orf37		17121940, 12739007, 17503775, 21628459	Standard	NM_032339		Approved	MGC14832, ORB3, XTP4, C35, Rdx12	uc002hsq.3	Q9BRT3	OTTHUMG00000133252	ENST00000394231.3:c.130A>G	17.37:g.37886504T>C	ENSP00000377778:p.Ser44Gly	Somatic	59	0	874	WXS	Illumina HiSeq	Phase_I	64	18	NM_032339	0	1	39	61	21		Missense_Mutation	SNP	ENST00000394231.3	37	CCDS11344.1	.	.	.	.	.	.	.	.	.	.	T	17.92	3.505978	0.64410	.	.	ENSG00000141741	ENST00000394231	T	0.43688	0.94	4.91	4.91	0.64330	.	0.105490	0.64402	D	0.000008	T	0.34948	0.0915	L	0.39898	1.24	0.38895	D	0.957206	B	0.26935	0.164	B	0.22880	0.042	T	0.27773	-1.0064	10	0.48119	T	0.1	-18.1594	13.6518	0.62314	0.0:0.0:0.0:1.0	.	44	Q9BRT3	MIEN1_HUMAN	G	44	ENSP00000377778:S44G	ENSP00000377778:S44G	S	-	1	0	C17orf37	35140030	1.000000	0.71417	0.993000	0.49108	0.973000	0.67179	5.252000	0.65445	2.069000	0.61940	0.402000	0.26972	AGT	.		0.657	MIEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257020.3	NM_032339	
AKAP1	8165	broad.mit.edu	37	17	55183277	55183277	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr17:55183277C>T	ENST00000337714.3	+	2	685	c.452C>T	c.(451-453)tCc>tTc	p.S151F	AKAP1_ENST00000572557.1_Missense_Mutation_p.S151F|AKAP1_ENST00000539273.1_Missense_Mutation_p.S151F|AKAP1_ENST00000314126.3_Missense_Mutation_p.S151F|AKAP1_ENST00000571629.1_Missense_Mutation_p.S151F	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	151					blood coagulation (GO:0007596)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					CCCCTTTCATCCCCAAAGGGT	0.537																																					p.S151F													.	AKAP1-227	0			c.C452T						.						87.0	89.0	89.0					17																	55183277		2203	4300	6503	SO:0001583	missense	8165	exon3			TTTCATCCCCAAA	X97335	CCDS11594.1	17q22	2013-01-23			ENSG00000121057	ENSG00000121057		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Tudor domain containing"""	367	protein-coding gene	gene with protein product	"""protein kinase anchoring protein 1"", ""dual specificity A-kinase-anchoring protein 1"", ""protein phosphatase 1, regulatory subunit 43"", ""tudor domain containing 17"""	602449		PRKA1		8769136, 7499250	Standard	NM_003488		Approved	AKAP121, AKAP149, SAKAP84, S-AKAP84, AKAP84, D-AKAP1, PPP1R43, TDRD17	uc002iux.3	Q92667	OTTHUMG00000140369	ENST00000337714.3:c.452C>T	17.37:g.55183277C>T	ENSP00000337736:p.Ser151Phe	Somatic	135	0		WXS	Illumina HiSeq	Phase_I	135	3	NM_001242902	0	0	8	8	0	A8K8Q1|D3DTZ0|Q13320|Q9BW14	Missense_Mutation	SNP	ENST00000337714.3	37	CCDS11594.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.767508	0.49574	.	.	ENSG00000121057	ENST00000337714;ENST00000314126;ENST00000427138;ENST00000539273	T;T;T	0.17370	2.28;2.28;2.28	5.91	2.77	0.32553	.	1.150570	0.06086	N	0.662796	T	0.15696	0.0378	L	0.44542	1.39	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.33266	-0.9875	10	0.54805	T	0.06	-0.4379	3.9811	0.09495	0.1674:0.5686:0.0:0.264	.	151	Q92667	AKAP1_HUMAN	F	151;151;193;151	ENSP00000337736:S151F;ENSP00000314075:S151F;ENSP00000443139:S151F	ENSP00000314075:S151F	S	+	2	0	AKAP1	52538276	0.000000	0.05858	0.000000	0.03702	0.053000	0.15095	0.616000	0.24344	0.357000	0.24183	0.655000	0.94253	TCC	.		0.537	AKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277069.1		
SMCHD1	23347	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	18	2703754	2703754	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr18:2703754A>C	ENST00000320876.6	+	13	2050	c.1712A>C	c.(1711-1713)gAt>gCt	p.D571A	SMCHD1_ENST00000261598.8_Missense_Mutation_p.D571A|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	571					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GAGAAGTATGATAAACAAATA	0.343																																					p.D571A		.											.	SMCHD1-46	0			c.A1712C						.						74.0	75.0	75.0					18																	2703754		1821	4085	5906	SO:0001583	missense	23347	exon13			AGTATGATAAACA	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.1712A>C	18.37:g.2703754A>C	ENSP00000326603:p.Asp571Ala	Somatic	152	0		WXS	Illumina HiSeq	Phase_I	123	28	NM_015295	0	0	0	0	0	O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	A	14.58	2.577974	0.45902	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.64260	-0.09;-0.06	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.76385	0.3980	L	0.59436	1.845	0.48288	D	0.999625	D	0.89917	1.0	D	0.83275	0.996	T	0.78949	-0.2002	10	0.87932	D	0	-11.3702	15.6552	0.77129	1.0:0.0:0.0:0.0	.	571	A6NHR9	SMHD1_HUMAN	A	571	ENSP00000326603:D571A;ENSP00000261598:D571A	ENSP00000261598:D571A	D	+	2	0	SMCHD1	2693754	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.503000	0.90509	2.088000	0.63022	0.460000	0.39030	GAT	.		0.343	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2		
PIK3C3	5289	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	18	39542509	39542509	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr18:39542509C>A	ENST00000262039.4	+	3	399	c.313C>A	c.(313-315)Caa>Aaa	p.Q105K	PIK3C3_ENST00000398870.3_Missense_Mutation_p.Q42K|PIK3C3_ENST00000586545.1_Missense_Mutation_p.Q105K	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	105	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						CAGGAATGCCCAAGTGGCCCT	0.433										TSP Lung(28;0.18)																											p.Q105K	NSCLC(37;552 1060 2683 16430 37914)	.											.	PIK3C3-1312	0			c.C313A						.						101.0	91.0	94.0					18																	39542509		2203	4300	6503	SO:0001583	missense	5289	exon3			AATGCCCAAGTGG	Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"""phosphoinositide-3-kinase, class 3"""			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.313C>A	18.37:g.39542509C>A	ENSP00000262039:p.Gln105Lys	Somatic	129	0		WXS	Illumina HiSeq	Phase_I	139	7	NM_002647	0	0	3	3	0	Q15134	Missense_Mutation	SNP	ENST00000262039.4	37	CCDS11920.1	.	.	.	.	.	.	.	.	.	.	C	31	5.104641	0.94245	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	T;T	0.76709	-1.04;-1.04	5.88	5.88	0.94601	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (2);	0.000000	0.85682	D	0.000000	T	0.81079	0.4748	M	0.78285	2.405	0.58432	D	0.999994	B;B	0.29341	0.073;0.242	B;B	0.33196	0.067;0.159	T	0.76887	-0.2793	9	.	.	.	.	20.2314	0.98350	0.0:1.0:0.0:0.0	.	42;105	A8MYT4;Q8NEB9	.;PK3C3_HUMAN	K	105;42	ENSP00000262039:Q105K;ENSP00000381845:Q42K	.	Q	+	1	0	PIK3C3	37796507	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.805000	0.69143	2.789000	0.95967	0.591000	0.81541	CAA	.		0.433	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1	NM_002647	
MYO1F	4542	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	8642191	8642191	+	Splice_Site	SNP	C	C	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr19:8642191C>G	ENST00000338257.8	-	1	270	c.3G>C	c.(1-3)atG>atC	p.M1I	MYO1F_ENST00000595046.1_5'UTR	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	1					defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						AAGGACTTACCATGGTGGGGG	0.587																																					p.M1I		.											.	MYO1F-93	0			c.G3C						.						44.0	45.0	44.0					19																	8642191		1908	4116	6024	SO:0001630	splice_region_variant	4542	exon1			ACTTACCATGGTG	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.3+1G>C	19.37:g.8642191C>G		Somatic	70	0		WXS	Illumina HiSeq	Phase_I	80	24	NM_012335	0	0	0	0	0	Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	37	CCDS42494.1	.	.	.	.	.	.	.	.	.	.	C	10.02	1.237181	0.22711	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	D	0.86164	-2.08	3.64	3.64	0.41730	.	0.629994	0.14357	N	0.324717	T	0.78597	0.4308	.	.	.	0.80722	D	1	B;B;B	0.20261	0.0;0.009;0.043	B;B;B	0.14023	0.001;0.003;0.01	T	0.71590	-0.4547	8	.	.	.	.	11.03	0.47767	0.0:1.0:0.0:0.0	.	1;1;1	B4DVP3;B0I1T1;O00160	.;.;MYO1F_HUMAN	I	46;1	ENSP00000344871:M1I	.	M	-	3	0	MYO1F	8548191	1.000000	0.71417	1.000000	0.80357	0.169000	0.22640	3.368000	0.52357	2.028000	0.59812	0.462000	0.41574	ATG	.		0.587	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2		Missense_Mutation
GAPDHS	26330	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	36029207	36029207	+	Splice_Site	SNP	A	A	C	rs111871741		TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr19:36029207A>C	ENST00000222286.4	+	3	361		c.e3-1		AD000090.2_ENST00000590125.1_RNA|AD000090.2_ENST00000590717.1_RNA|AD000090.2_ENST00000589137.1_RNA	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic						carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of glycolytic process (GO:0045821)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	cytosol (GO:0005829)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|NAD binding (GO:0051287)|NADP binding (GO:0050661)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GTCCCTGGCCAGATTTGGACG	0.567																																					.		.											.	GAPDHS-226	0			c.246-2A>C						.						59.0	40.0	46.0					19																	36029207		2203	4300	6503	SO:0001630	splice_region_variant	26330	exon3			CTGGCCAGATTTG	AJ005371	CCDS12465.1	19q13.1	2008-02-05		2005-05-06		ENSG00000105679			24864	protein-coding gene	gene with protein product		609169		GAPDS		10714828	Standard	NM_014364		Approved	GAPDH-2, GAPD2	uc002oaf.1	O14556		ENST00000222286.4:c.246-1A>C	19.37:g.36029207A>C		Somatic	129	0		WXS	Illumina HiSeq	Phase_I	147	34	NM_014364	0	0	0	0	0	B2RC82|O60823|Q6JTT9|Q9HCU6	Splice_Site	SNP	ENST00000222286.4	37	CCDS12465.1	.	.	.	.	.	.	.	.	.	.	A	19.98	3.927280	0.73327	.	.	ENSG00000105679	ENST00000222286	.	.	.	5.3	4.29	0.51040	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.0531	0.36389	0.9122:0.0:0.0878:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GAPDHS	40721047	1.000000	0.71417	0.998000	0.56505	0.963000	0.63663	8.908000	0.92640	0.848000	0.35191	0.533000	0.62120	.	.		0.567	GAPDHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460423.1	NM_014364	Intron
WDR87	83889	hgsc.bcm.edu	37	19	38377329	38377329	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr19:38377329T>C	ENST00000303868.5	-	6	7089	c.6865A>G	c.(6865-6867)Aag>Gag	p.K2289E	WDR87_ENST00000447313.2_Missense_Mutation_p.K2328E	NM_031951.3	NP_114157.3	Q6ZQQ6	WDR87_HUMAN	WD repeat domain 87	2289	Glu-rich.									NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|prostate(1)|skin(3)|stomach(1)	36						tttttcttcttcttcttctcc	0.473																																					p.K2289E		.											.	.	0			c.A6865G						.						171.0	140.0	149.0					19																	38377329		692	1591	2283	SO:0001583	missense	83889	exon6			TCTTCTTCTTCTT	AK128826	CCDS46063.1, CCDS74356.1	19q13.13	2013-01-09			ENSG00000171804	ENSG00000171804		"""WD repeat domain containing"""	29934	protein-coding gene	gene with protein product							Standard	XM_005259304		Approved	NYD-SP11	uc010efu.2	Q6ZQQ6	OTTHUMG00000048187	ENST00000303868.5:c.6865A>G	19.37:g.38377329T>C	ENSP00000368025:p.Lys2289Glu	Somatic	78	0		WXS	Illumina HiSeq	Phase_I	88	20	NM_031951	0	0	0	0	0	Q9BWV9	Missense_Mutation	SNP	ENST00000303868.5	37	CCDS46063.1	.	.	.	.	.	.	.	.	.	.	T	8.320	0.824051	0.16678	.	.	ENSG00000171804	ENST00000447313;ENST00000303868	T;T	0.66460	-0.21;-0.21	4.59	-2.88	0.05682	.	.	.	.	.	T	0.37999	0.1024	N	0.11560	0.145	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.36480	-0.9746	9	0.02654	T	1	.	10.2821	0.43545	0.0:0.5699:0.0:0.4301	.	2289;2328	Q6ZQQ6;E7ESW6	WDR87_HUMAN;.	E	2328;2289	ENSP00000405012:K2328E;ENSP00000368025:K2289E	ENSP00000368025:K2289E	K	-	1	0	WDR87	43069169	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.401000	0.01048	-0.502000	0.06596	-0.584000	0.04131	AAG	.		0.473	WDR87-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314628.2	XM_940478	
LRRC4B	94030	bcgsc.ca	37	19	51022541	51022541	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr19:51022541G>T	ENST00000599957.1	-	3	626	c.429C>A	c.(427-429)gaC>gaA	p.D143E	LRRC4B_ENST00000389201.3_Missense_Mutation_p.D143E			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	143					positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		TCAGCCGGTTGTCAAAAAGCT	0.627																																					p.D143E													.	LRRC4B-205	0			c.C429A						.						52.0	56.0	55.0					19																	51022541		2200	4298	6498	SO:0001583	missense	94030	exon3			CCGGTTGTCAAAA	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.429C>A	19.37:g.51022541G>T	ENSP00000471502:p.Asp143Glu	Somatic	78	0		WXS	Illumina HiSeq	Phase_1	123	6	NM_001080457	0	0	0	0	0	Q3ZCQ4|Q58F20	Missense_Mutation	SNP	ENST00000599957.1	37	CCDS42595.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.028580	0.75390	.	.	ENSG00000131409	ENST00000389201;ENST00000535879	D	0.90955	-2.76	3.96	3.96	0.45880	.	0.000000	0.64402	U	0.000004	D	0.84437	0.5472	L	0.38649	1.16	0.58432	D	0.999995	P	0.44659	0.84	B	0.38296	0.27	D	0.83865	0.0270	10	0.30078	T	0.28	.	13.9104	0.63864	0.0:0.0:1.0:0.0	.	143	Q9NT99	LRC4B_HUMAN	E	143	ENSP00000373853:D143E	ENSP00000373853:D143E	D	-	3	2	LRRC4B	55714353	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.637000	0.67854	2.235000	0.73313	0.491000	0.48974	GAC	.		0.627	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457	
APOB	338	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	21227463	21227463	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr2:21227463T>C	ENST00000233242.1	-	27	12000	c.11873A>G	c.(11872-11874)tAt>tGt	p.Y3958C		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3958					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCTTCTTCATATTCTGCACT	0.363																																					p.Y3958C		.											.	APOB-175	0			c.A11873G						.						155.0	147.0	150.0					2																	21227463		2203	4300	6503	SO:0001583	missense	338	exon27			TCTTCATATTCTG	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.11873A>G	2.37:g.21227463T>C	ENSP00000233242:p.Tyr3958Cys	Somatic	138	0		WXS	Illumina HiSeq	Phase_I	159	39	NM_000384	0	0	0	0	0	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	T	13.44	2.236382	0.39498	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.20200	2.09	5.99	5.99	0.97316	.	0.000000	0.56097	D	0.000034	T	0.44623	0.1302	M	0.75447	2.3	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.45086	-0.9285	10	0.87932	D	0	.	10.0499	0.42210	0.0:0.0741:0.0:0.9259	.	3958	P04114	APOB_HUMAN	C	3958	ENSP00000233242:Y3958C	ENSP00000233242:Y3958C	Y	-	2	0	APOB	21080968	0.999000	0.42202	0.067000	0.19924	0.123000	0.20343	3.693000	0.54735	2.291000	0.77112	0.533000	0.62120	TAT	.		0.363	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
C2orf71	388939	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	29295663	29295663	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr2:29295663G>A	ENST00000331664.5	-	1	1464	c.1465C>T	c.(1465-1467)Cca>Tca	p.P489S		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	489					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TCCTCCTCTGGGCTGCTGTCC	0.527																																					p.P489S		.											.	C2orf71-91	0			c.C1465T						.						83.0	86.0	85.0					2																	29295663		2105	4227	6332	SO:0001583	missense	388939	exon1			CCTCTGGGCTGCT		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.1465C>T	2.37:g.29295663G>A	ENSP00000332809:p.Pro489Ser	Somatic	208	0		WXS	Illumina HiSeq	Phase_I	254	80	NM_001029883	0	0	0	0	0		Missense_Mutation	SNP	ENST00000331664.5	37	CCDS42669.1	.	.	.	.	.	.	.	.	.	.	G	1.537	-0.542885	0.04053	.	.	ENSG00000179270	ENST00000331664	T	0.18016	2.24	5.3	-0.867	0.10655	.	0.860292	0.10501	N	0.667309	T	0.05227	0.0139	N	0.05199	-0.095	0.09310	N	1	B	0.10296	0.003	B	0.12156	0.007	T	0.40117	-0.9580	10	0.05525	T	0.97	-0.0051	2.483	0.04592	0.3929:0.1103:0.3836:0.1132	.	489	A6NGG8	CB071_HUMAN	S	489	ENSP00000332809:P489S	ENSP00000332809:P489S	P	-	1	0	C2orf71	29149167	0.015000	0.18098	0.442000	0.26870	0.446000	0.32137	0.072000	0.14617	-0.228000	0.09869	-1.036000	0.02392	CCA	.		0.527	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883	
AMER3	205147	broad.mit.edu	37	2	131521382	131521382	+	Silent	SNP	C	C	A	rs200984217	byFrequency	TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr2:131521382C>A	ENST00000423981.1	+	2	1847	c.1737C>A	c.(1735-1737)gcC>gcA	p.A579A	AMER3_ENST00000321420.4_Silent_p.A579A	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	579					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.A579A(1)									GCCTGCTCGCCGGAGAGAGCA	0.662													C|||	3	0.000599042	0.0	0.0	5008	,	,		14229	0.003		0.0	False		,,,				2504	0.0				p.A579A													.	.	1	Substitution - coding silent(1)	lung(1)	c.C1737A						.	C	,,,	0,4406		0,0,2203	30.0	36.0	34.0		1737,1737,1737,1737	-8.8	0.0	2		34	2,8594	1.2+/-3.3	0,2,4296	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FAM123C	NM_001105193.1,NM_001105194.1,NM_001105195.1,NM_152698.2	,,,	0,2,6499	AA,AC,CC		0.0233,0.0,0.0154	,,,	579/862,579/862,579/862,579/862	131521382	2,13000	2203	4298	6501	SO:0001819	synonymous_variant	205147	exon2			GCTCGCCGGAGAG	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1737C>A	2.37:g.131521382C>A		Somatic	59	0		WXS	Illumina HiSeq	Phase_I	56	8	NM_152698	0	0	0	0	0	B7ZLH6	Silent	SNP	ENST00000423981.1	37	CCDS2164.1																																																																																			C|0.999;A|0.001		0.662	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698	
ANKRD30BL	554226	broad.mit.edu	37	2	132919099	132919099	+	Silent	SNP	C	C	T	rs199974298		TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr2:132919099C>T	ENST00000409867.1	-	1	429	c.180G>A	c.(178-180)aaG>aaA	p.K60K	ANKRD30BL_ENST00000470729.1_Intron			A7E2S9	A30BL_HUMAN	ankyrin repeat domain 30B-like	60										endometrium(1)|kidney(3)	4						CCATTGTCGTCTTCTTCATCA	0.582																																					.													.	.	0			.						.																																			SO:0001819	synonymous_variant	554226	.			TGTCGTCTTCTTC			2q21.2	2013-01-22	2010-06-14	2010-06-14	ENSG00000163046	ENSG00000163046		"""Ankyrin repeat domain containing"""	35167	protein-coding gene	gene with protein product			"""non-protein coding RNA 164"", ""ankyrin repeat domain 30B pseudogene 3"""	NCRNA00164, ANKRD30BP3		17114284	Standard	NR_027019		Approved		uc002tti.3	A7E2S9	OTTHUMG00000153491	ENST00000409867.1:c.180G>A	2.37:g.132919099C>T		Somatic	88	1		WXS	Illumina HiSeq	Phase_I	112	12	.	0	0	0	0	0	B8ZZL7	RNA	SNP	ENST00000409867.1	37																																																																																				C|0.991;T|0.009		0.582	ANKRD30BL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331353.2	NR_027019	
ANKRD30BL	554226	bcgsc.ca	37	2	132919192	132919192	+	Silent	SNP	G	G	A	rs111295191		TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr2:132919192G>A	ENST00000409867.1	-	1	336	c.87C>T	c.(85-87)aaC>aaT	p.N29N	ANKRD30BL_ENST00000470729.1_Intron			A7E2S9	A30BL_HUMAN	ankyrin repeat domain 30B-like	29										endometrium(1)|kidney(3)	4						CGTAAGAGTCGTTGTTGGTGT	0.602																																					.													.	.	0			.						.																																			SO:0001819	synonymous_variant	554226	.			AGAGTCGTTGTTG			2q21.2	2013-01-22	2010-06-14	2010-06-14	ENSG00000163046	ENSG00000163046		"""Ankyrin repeat domain containing"""	35167	protein-coding gene	gene with protein product			"""non-protein coding RNA 164"", ""ankyrin repeat domain 30B pseudogene 3"""	NCRNA00164, ANKRD30BP3		17114284	Standard	NR_027019		Approved		uc002tti.3	A7E2S9	OTTHUMG00000153491	ENST00000409867.1:c.87C>T	2.37:g.132919192G>A		Somatic	217	3		WXS	Illumina HiSeq	Phase_1	305	20	.	0	0	0	0	0	B8ZZL7	RNA	SNP	ENST00000409867.1	37																																																																																				.		0.602	ANKRD30BL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331353.2	NR_027019	
BAZ2B	29994	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	160206728	160206728	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr2:160206728C>T	ENST00000392783.2	-	28	4849	c.4354G>A	c.(4354-4356)Gaa>Aaa	p.E1452K	BAZ2B_ENST00000355831.2_Missense_Mutation_p.E1418K|BAZ2B_ENST00000343439.5_Missense_Mutation_p.E1352K|BAZ2B_ENST00000392782.1_Missense_Mutation_p.E1416K	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1452					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TTATCTTTTTCTTTAAGATCT	0.368																																					p.E1452K													.	BAZ2B-94	0			c.G4354A						.						66.0	58.0	60.0					2																	160206728		1809	4073	5882	SO:0001583	missense	29994	exon28			CTTTTTCTTTAAG	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.4354G>A	2.37:g.160206728C>T	ENSP00000376534:p.Glu1452Lys	Somatic	73	1		WXS	Illumina HiSeq	Phase_I	70	15	NM_013450	0	0	1	1	0	D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	C	14.62	2.590148	0.46214	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	T;T;T;T	0.06768	3.26;3.26;3.26;3.26	5.76	5.76	0.90799	.	0.000000	0.37577	U	0.002035	T	0.23451	0.0567	L	0.54323	1.7	0.51482	D	0.999923	D;P	0.71674	0.998;0.533	D;B	0.63488	0.915;0.076	T	0.00048	-1.2206	10	0.32370	T	0.25	-21.567	18.5021	0.90886	0.0:1.0:0.0:0.0	.	1416;1452	Q9UIF8-5;Q9UIF8	.;BAZ2B_HUMAN	K	1416;1452;1418;1352	ENSP00000376533:E1416K;ENSP00000376534:E1452K;ENSP00000348087:E1418K;ENSP00000339670:E1352K	ENSP00000339670:E1352K	E	-	1	0	BAZ2B	159914974	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.954000	0.63631	2.876000	0.98609	0.643000	0.83706	GAA	.		0.368	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2		
LRP2	4036	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	170012842	170012842	+	Silent	SNP	G	G	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr2:170012842G>T	ENST00000263816.3	-	65	12378	c.12093C>A	c.(12091-12093)gtC>gtA	p.V4031V		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4031	EGF-like 15; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CATCAGCACAGACACACTCAT	0.438																																					p.V4031V		.											.	LRP2-175	0			c.C12093A						.						199.0	183.0	188.0					2																	170012842		2203	4300	6503	SO:0001819	synonymous_variant	4036	exon65			AGCACAGACACAC		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.12093C>A	2.37:g.170012842G>T		Somatic	191	0		WXS	Illumina HiSeq	Phase_I	174	40	NM_004525	0	0	38	80	42	O00711|Q16215	Silent	SNP	ENST00000263816.3	37	CCDS2232.1																																																																																			.		0.438	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
USP37	57695	broad.mit.edu;bcgsc.ca	37	2	219330816	219330816	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr2:219330816C>T	ENST00000258399.3	-	21	2795	c.2383G>A	c.(2383-2385)Gat>Aat	p.D795N	USP37_ENST00000454775.1_Missense_Mutation_p.D795N|USP37_ENST00000418019.1_Missense_Mutation_p.D795N|USP37_ENST00000415516.1_Missense_Mutation_p.D701N	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	795	USP.				G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		TGGAGCCAATCAACTTCTCCC	0.428																																					p.D795N													.	USP37-661	0			c.G2383A						.						180.0	172.0	175.0					2																	219330816		2203	4300	6503	SO:0001583	missense	57695	exon21			GCCAATCAACTTC	AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"""Ubiquitin-specific peptidases"""	20063	protein-coding gene	gene with protein product			"""ubiquitin specific protease 37"""			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.2383G>A	2.37:g.219330816C>T	ENSP00000258399:p.Asp795Asn	Somatic	144	0		WXS	Illumina HiSeq	Phase_I	95	6	NM_020935	0	0	0	0	0	A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Missense_Mutation	SNP	ENST00000258399.3	37	CCDS2418.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.660499	0.88154	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019	T;T;T;T	0.50277	0.81;0.81;0.75;0.81	5.46	5.46	0.80206	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.047245	0.85682	D	0.000000	T	0.59542	0.2201	L	0.44542	1.39	0.80722	D	1	D;D	0.56746	0.971;0.977	P;P	0.59703	0.783;0.862	T	0.54879	-0.8227	10	0.42905	T	0.14	-17.9037	19.5125	0.95148	0.0:1.0:0.0:0.0	.	701;795	Q86T82-2;Q86T82	.;UBP37_HUMAN	N	795;795;701;795	ENSP00000258399:D795N;ENSP00000393662:D795N;ENSP00000400902:D701N;ENSP00000396585:D795N	ENSP00000258399:D795N	D	-	1	0	USP37	219039060	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.192000	0.77771	2.840000	0.97914	0.655000	0.94253	GAT	.		0.428	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	NM_020935	
TMEM74B	55321	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	1161648	1161648	+	Silent	SNP	G	G	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr20:1161648G>A	ENST00000381894.3	-	2	1286	c.615C>T	c.(613-615)taC>taT	p.Y205Y	TMEM74B_ENST00000481747.1_5'Flank	NM_018354.1	NP_060824.1	Q9NUR3	TM74B_HUMAN	transmembrane protein 74B	205						integral component of membrane (GO:0016021)											TCCTCCGGCGGTACAGCTCGC	0.652																																					p.Y205Y		.											.	.	0			c.C615T						.						56.0	50.0	52.0					20																	1161648		2203	4300	6503	SO:0001819	synonymous_variant	55321	exon2			CCGGCGGTACAGC	AK002052	CCDS13011.1	20p13	2011-11-23	2011-11-23	2011-11-23	ENSG00000125895	ENSG00000125895			15893	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 46"""	C20orf46			Standard	XM_005260748		Approved	FLJ11190	uc002weq.1	Q9NUR3	OTTHUMG00000031655	ENST00000381894.3:c.615C>T	20.37:g.1161648G>A		Somatic	78	0		WXS	Illumina HiSeq	Phase_I	86	18	NM_018354	0	0	0	0	0	D3DVW5	Silent	SNP	ENST00000381894.3	37	CCDS13011.1																																																																																			.		0.652	TMEM74B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077496.2	NM_018354	
SRC	6714	broad.mit.edu	37	20	36026154	36026154	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr20:36026154G>T	ENST00000373578.2	+	9	1105	c.756G>T	c.(754-756)aaG>aaT	p.K252N	SRC_ENST00000358208.4_Missense_Mutation_p.K252N|SRC_ENST00000360723.4_Missense_Mutation_p.K258N|SRC_ENST00000373558.2_Missense_Mutation_p.K258N|SRC_ENST00000477066.1_3'UTR|SRC_ENST00000373567.2_Missense_Mutation_p.K252N|SRC_ENST00000445403.1_Missense_Mutation_p.K252N	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	SRC proto-oncogene, non-receptor tyrosine kinase	252					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cellular response to progesterone stimulus (GO:0071393)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|membrane organization (GO:0061024)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of mitochondrial depolarization (GO:0051902)|negative regulation of protein homooligomerization (GO:0032463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oogenesis (GO:0048477)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of integrin activation (GO:0033625)|positive regulation of podosome assembly (GO:0071803)|positive regulation of protein kinase B signaling (GO:0051897)|progesterone receptor signaling pathway (GO:0050847)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of bone resorption (GO:0045124)|regulation of caveolin-mediated endocytosis (GO:2001286)|regulation of cell-cell adhesion (GO:0022407)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of epithelial cell migration (GO:0010632)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of protein binding (GO:0043393)|regulation of vascular permeability (GO:0043114)|response to interleukin-1 (GO:0070555)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|T cell costimulation (GO:0031295)|transforming growth factor beta receptor signaling pathway (GO:0007179)|uterus development (GO:0060065)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|growth factor receptor binding (GO:0070851)|heme binding (GO:0020037)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Bosutinib(DB06616)|Dasatinib(DB01254)|Ponatinib(DB08901)	CCACGTCCAAGCCGCAGACTC	0.677																																					p.K252N													.	SRC-2731	0			c.G756T						.						44.0	42.0	43.0					20																	36026154		2203	4300	6503	SO:0001583	missense	6714	exon9			GTCCAAGCCGCAG	AF077754	CCDS13294.1	20q12-q13	2014-06-25	2014-06-25		ENSG00000197122	ENSG00000197122		"""SH2 domain containing"""	11283	protein-coding gene	gene with protein product		190090	"""v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog"""	SRC1		2582238	Standard	NM_005417		Approved	ASV, c-src	uc002xgy.3	P12931	OTTHUMG00000032417	ENST00000373578.2:c.756G>T	20.37:g.36026154G>T	ENSP00000362680:p.Lys252Asn	Somatic	69	0		WXS	Illumina HiSeq	Phase_I	56	4	NM_005417	0	0	15	15	0	E1P5V4|Q76P87|Q86VB9|Q9H5A8	Missense_Mutation	SNP	ENST00000373578.2	37	CCDS13294.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.508256	0.27036	.	.	ENSG00000197122	ENST00000445403;ENST00000373578;ENST00000360723;ENST00000358208;ENST00000373567;ENST00000373558	T;T;T;T;T;T	0.75260	-0.9;-0.9;-0.92;-0.9;-0.9;-0.92	4.53	3.58	0.41010	SH2 motif (1);	0.000000	0.85682	D	0.000000	T	0.71169	0.3308	M	0.70275	2.135	0.80722	D	1	P	0.37276	0.589	B	0.36922	0.236	T	0.71879	-0.4459	10	0.51188	T	0.08	.	10.2811	0.43541	0.0976:0.0:0.9024:0.0	.	252	P12931	SRC_HUMAN	N	252;252;258;252;252;258	ENSP00000408503:K252N;ENSP00000362680:K252N;ENSP00000353950:K258N;ENSP00000350941:K252N;ENSP00000362668:K252N;ENSP00000362659:K258N	ENSP00000350941:K252N	K	+	3	2	SRC	35459568	1.000000	0.71417	0.998000	0.56505	0.116000	0.19942	3.875000	0.56108	1.125000	0.41998	0.462000	0.41574	AAG	.		0.677	SRC-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268142.1	NM_005417	
MYBL2	4605	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	42310472	42310472	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr20:42310472A>G	ENST00000217026.4	+	3	290	c.163A>G	c.(163-165)Aag>Gag	p.K55E	MYBL2_ENST00000396863.4_Intron	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	55	HTH myb-type 1. {ECO:0000255|PROSITE- ProRule:PRU00625}.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GCAGGACTGGAAGTTCCTGGC	0.602																																					p.K55E		.											.	MYBL2-415	0			c.A163G						.						64.0	52.0	56.0					20																	42310472		2203	4300	6503	SO:0001583	missense	4605	exon3			GACTGGAAGTTCC		CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.163A>G	20.37:g.42310472A>G	ENSP00000217026:p.Lys55Glu	Somatic	95	0		WXS	Illumina HiSeq	Phase_I	144	41	NM_002466	0	0	1	1	0	B2RBS5|B7Z8D9|F8W6N6|Q53F07	Missense_Mutation	SNP	ENST00000217026.4	37	CCDS13322.1	.	.	.	.	.	.	.	.	.	.	A	32	5.164691	0.94727	.	.	ENSG00000101057	ENST00000217026	T	0.15718	2.4	5.61	5.61	0.85477	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.33089	0.0851	L	0.46567	1.45	0.80722	D	1	D	0.60160	0.987	D	0.62955	0.909	T	0.01613	-1.1312	10	0.54805	T	0.06	-37.5596	15.101	0.72276	1.0:0.0:0.0:0.0	.	55	P10244	MYBB_HUMAN	E	55	ENSP00000217026:K55E	ENSP00000217026:K55E	K	+	1	0	MYBL2	41743886	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.926000	0.92839	2.281000	0.76405	0.533000	0.62120	AAG	.		0.602	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	NM_002466	
SGSM3	27352	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	40800334	40800334	+	Silent	SNP	C	C	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr22:40800334C>T	ENST00000248929.9	+	5	430	c.241C>T	c.(241-243)Ctg>Ttg	p.L81L	SGSM3_ENST00000454798.2_Silent_p.L14L	NM_015705.4	NP_056520.2			small G protein signaling modulator 3											cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						GCAGGCCCACCTGGAGTTCAC	0.627																																					p.L81L		.											.	SGSM3-494	0			c.C241T						.						53.0	49.0	51.0					22																	40800334		2203	4300	6503	SO:0001819	synonymous_variant	27352	exon5			GCCCACCTGGAGT	AL022238	CCDS14002.1	22q13.1-q13.2	2013-07-09	2007-08-14	2007-08-14	ENSG00000100359	ENSG00000100359		"""Small G protein signaling modulators"""	25228	protein-coding gene	gene with protein product	"""RUN and SH3 containing 3"""	610440	"""RUN and TBC1 domain containing 3"""	RUTBC3		11214971, 17509819	Standard	XM_005261572		Approved	DJ1042K10.2, RUSC3, RabGAP-5, RABGAP5	uc003ayu.1	Q96HU1	OTTHUMG00000151141	ENST00000248929.9:c.241C>T	22.37:g.40800334C>T		Somatic	83	0		WXS	Illumina HiSeq	Phase_I	90	24	NM_015705	0	0	0	3	3		Silent	SNP	ENST00000248929.9	37	CCDS14002.1																																																																																			.		0.627	SGSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321504.2	NM_015705	
SGSM3	27352	broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	40802147	40802147	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr22:40802147C>T	ENST00000248929.9	+	9	1069	c.880C>T	c.(880-882)Ctc>Ttc	p.L294F	SGSM3_ENST00000454798.2_Missense_Mutation_p.L227F	NM_015705.4	NP_056520.2			small G protein signaling modulator 3											cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						CATCAAGCTGCTCCTGCGCAT	0.617																																					p.L294F													.	SGSM3-494	0			c.C880T						.						106.0	89.0	95.0					22																	40802147		2203	4300	6503	SO:0001583	missense	27352	exon9			AAGCTGCTCCTGC	AL022238	CCDS14002.1	22q13.1-q13.2	2013-07-09	2007-08-14	2007-08-14	ENSG00000100359	ENSG00000100359		"""Small G protein signaling modulators"""	25228	protein-coding gene	gene with protein product	"""RUN and SH3 containing 3"""	610440	"""RUN and TBC1 domain containing 3"""	RUTBC3		11214971, 17509819	Standard	XM_005261572		Approved	DJ1042K10.2, RUSC3, RabGAP-5, RABGAP5	uc003ayu.1	Q96HU1	OTTHUMG00000151141	ENST00000248929.9:c.880C>T	22.37:g.40802147C>T	ENSP00000248929:p.Leu294Phe	Somatic	158	0		WXS	Illumina HiSeq	Phase_I	234	9	NM_015705	0	0	13	17	4		Missense_Mutation	SNP	ENST00000248929.9	37	CCDS14002.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.305342	0.60305	.	.	ENSG00000100359	ENST00000457767;ENST00000248929;ENST00000545416;ENST00000454798	T;T;T	0.25085	1.82;1.82;1.82	5.25	4.22	0.49857	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.54886	0.1886	M	0.88979	2.995	0.80722	D	1	D;D;D;D;D	0.71674	0.998;0.998;0.995;0.996;0.996	D;D;D;D;D	0.79108	0.989;0.992;0.947;0.979;0.979	T	0.62483	-0.6845	10	0.87932	D	0	.	12.4289	0.55563	0.0:0.8653:0.0:0.1347	.	231;227;294;294;294	B4DVE3;B4DMS2;Q96HU1-2;B9A6J5;Q96HU1	.;.;.;.;SGSM3_HUMAN	F	227;294;237;227	ENSP00000399249:L227F;ENSP00000248929:L294F;ENSP00000390998:L227F	ENSP00000248929:L294F	L	+	1	0	SGSM3	39132093	1.000000	0.71417	1.000000	0.80357	0.325000	0.28411	3.568000	0.53820	2.636000	0.89361	0.313000	0.20887	CTC	.		0.617	SGSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321504.2	NM_015705	
ITPR1	3708	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	4878618	4878618	+	Splice_Site	SNP	A	A	C			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr3:4878618A>C	ENST00000443694.2	+	58	8144	c.8144A>C	c.(8143-8145)cAg>cCg	p.Q2715P	AC018816.3_ENST00000441894.1_Intron|ITPR1_ENST00000354582.6_Splice_Site_p.Q2715P|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000302640.8_Splice_Site_p.Q2715P|ITPR1_ENST00000544951.1_Splice_Site_p.Q693P|AC018816.3_ENST00000449914.1_Intron|ITPR1_ENST00000357086.4_Splice_Site_p.Q2682P|ITPR1_ENST00000423119.2_Splice_Site_p.Q2682P|ITPR1_ENST00000456211.2_Splice_Site_p.Q2667P			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2730					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	TTAAAGGATCAGGTAAAGAAA	0.488																																					p.Q2715P		.											.	ITPR1-710	0			c.A8144C						.						43.0	42.0	42.0					3																	4878618		1916	4131	6047	SO:0001630	splice_region_variant	3708	exon60			AGGATCAGGTAAA	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.8145+1A>C	3.37:g.4878618A>C		Somatic	39	0		WXS	Illumina HiSeq	Phase_I	59	13	NM_001168272	0	0	0	0	0	E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.802091	0.90538	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	D;D;D;D;D;D;D	0.91996	-2.94;-2.95;-2.95;-2.95;-2.95;-1.79;-2.94	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.95928	0.8674	M	0.77486	2.375	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.999	D;P;D	0.78314	0.979;0.893;0.991	D	0.95864	0.8885	10	0.54805	T	0.06	.	16.6093	0.84858	1.0:0.0:0.0:0.0	.	693;2730;2682	B7ZMI3;Q14643;G5E9P1	.;ITPR1_HUMAN;.	P	2730;2715;2715;2682;1176;2682;2667;693;2715	ENSP00000306253:Q2715P;ENSP00000346595:Q2715P;ENSP00000405934:Q2682P;ENSP00000349597:Q2682P;ENSP00000397885:Q2667P;ENSP00000440564:Q693P;ENSP00000401671:Q2715P	ENSP00000306253:Q2715P	Q	+	2	0	ITPR1	4853618	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	9.243000	0.95416	2.324000	0.78689	0.533000	0.62120	CAG	.		0.488	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222	Missense_Mutation
NUP210	23225	broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	13399893	13399893	+	Silent	SNP	G	G	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr3:13399893G>A	ENST00000254508.5	-	16	2239	c.2157C>T	c.(2155-2157)gtC>gtT	p.V719V		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	719					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)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					ACAGGGCGATGACCTGGTAGG	0.612																																					p.V719V													.	NUP210-256	0			c.C2157T						.						49.0	50.0	49.0					3																	13399893		2203	4300	6503	SO:0001819	synonymous_variant	23225	exon16			GGCGATGACCTGG	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.2157C>T	3.37:g.13399893G>A		Somatic	162	0		WXS	Illumina HiSeq	Phase_I	206	25	NM_024923	0	0	0	0	0	A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Silent	SNP	ENST00000254508.5	37	CCDS33704.1																																																																																			.		0.612	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923	
SH3BP5	9467	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	15298471	15298471	+	Silent	SNP	G	G	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr3:15298471G>A	ENST00000383791.3	-	8	1259	c.1039C>T	c.(1039-1041)Ctg>Ttg	p.L347L	SH3BP5-AS1_ENST00000413977.1_RNA|SH3BP5-AS1_ENST00000420195.1_RNA|SH3BP5-AS1_ENST00000436602.1_RNA|SH3BP5_ENST00000408919.3_Silent_p.L190L|SH3BP5_ENST00000426925.1_Silent_p.L190L|SH3BP5_ENST00000253688.5_Silent_p.L190L	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)	347	Ser-rich.				intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	protein kinase inhibitor activity (GO:0004860)			NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						GGCAGATCCAGGCTGCCAGGC	0.587																																					p.L347L		.											.	SH3BP5-90	0			c.C1039T						.						73.0	63.0	67.0					3																	15298471		2203	4300	6503	SO:0001819	synonymous_variant	9467	exon8			GATCCAGGCTGCC	AB005047	CCDS2625.2, CCDS43055.1	3p24.3	2008-07-10			ENSG00000131370	ENSG00000131370			10827	protein-coding gene	gene with protein product	"""SH3 binding protein"""	605612				9571151, 10339589	Standard	NM_004844		Approved	Sab	uc003bzp.2	O60239	OTTHUMG00000129859	ENST00000383791.3:c.1039C>T	3.37:g.15298471G>A		Somatic	150	0		WXS	Illumina HiSeq	Phase_I	221	46	NM_004844	0	0	26	26	0	B3KQW6|Q5JWV9	Silent	SNP	ENST00000383791.3	37	CCDS2625.2																																																																																			.		0.587	SH3BP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340740.2	NM_004844	
ANKRD28	23243	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	15765925	15765925	+	Silent	SNP	G	G	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr3:15765925G>A	ENST00000399451.2	-	7	1024	c.657C>T	c.(655-657)atC>atT	p.I219I	ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Silent_p.I252I	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	219						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						TGACTACGCTGATCATTCCAC	0.363																																					p.I219I		.											.	ANKRD28-135	0			c.C657T						.						56.0	53.0	54.0					3																	15765925		1940	4139	6079	SO:0001819	synonymous_variant	23243	exon7			TACGCTGATCATT	AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	29024	protein-coding gene	gene with protein product	"""phosphatase interactor targeting K protein"", ""protein phosphatase 6 ankyrin repeat subunit A"", ""protein phosphatase 1, regulatory subunit 65"""	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.657C>T	3.37:g.15765925G>A		Somatic	91	0		WXS	Illumina HiSeq	Phase_I	134	18	NM_015199	0	0	2	3	1	B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Silent	SNP	ENST00000399451.2	37	CCDS46769.1																																																																																			.		0.363	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	NM_015199	
SLC22A13	9390	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	38316203	38316203	+	Silent	SNP	T	T	C			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr3:38316203T>C	ENST00000311856.4	+	3	640	c.591T>C	c.(589-591)gcT>gcC	p.A197A	SLC22A13_ENST00000450935.2_Intron	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	197					nicotinate transport (GO:2001142)|organic cation transport (GO:0015695)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	nicotinate transporter activity (GO:0090416)|organic cation transmembrane transporter activity (GO:0015101)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		TGCGCTTTGCTGTGGCTACTG	0.617																																					p.A197A		.											.	SLC22A13-91	0			c.T591C						.						72.0	68.0	69.0					3																	38316203		2203	4300	6503	SO:0001819	synonymous_variant	9390	exon3			CTTTGCTGTGGCT	AB010438	CCDS2676.1	3p22.2	2013-07-18	2013-07-18	2003-10-15	ENSG00000172940	ENSG00000172940		"""Solute carriers"""	8494	protein-coding gene	gene with protein product		604047	"""organic cationic transporter-like 3"", ""solute carrier family 22 (organic anion transporter), member 13"""	ORCTL3		10072596, 18411268	Standard	NM_004256		Approved	OCTL1, OCTL3, OAT10	uc003chz.3	Q9Y226	OTTHUMG00000131086	ENST00000311856.4:c.591T>C	3.37:g.38316203T>C		Somatic	115	0		WXS	Illumina HiSeq	Phase_I	189	71	NM_004256	0	0	0	2	2	B2RCV9|Q8IYG1	Silent	SNP	ENST00000311856.4	37	CCDS2676.1																																																																																			.		0.617	SLC22A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253746.2	NM_004256	
SCN10A	6336	broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	38755540	38755540	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr3:38755540A>C	ENST00000449082.2	-	21	3712	c.3713T>G	c.(3712-3714)cTg>cGg	p.L1238R		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1238					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	AGAATATTCCAGAATCTTCGC	0.527																																					p.L1238R													.	SCN10A-99	0			c.T3713G						.						119.0	116.0	117.0					3																	38755540		2203	4300	6503	SO:0001583	missense	6336	exon21			TATTCCAGAATCT	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.3713T>G	3.37:g.38755540A>C	ENSP00000390600:p.Leu1238Arg	Somatic	48	1		WXS	Illumina HiSeq	Phase_I	80	27	NM_006514	0	0	0	0	0	A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	A	15.70	2.911020	0.52439	.	.	ENSG00000185313	ENST00000449082	D	0.98701	-5.08	4.23	4.23	0.50019	Ion transport (1);	0.545385	0.16081	N	0.230526	D	0.98369	0.9458	M	0.92122	3.275	0.39492	D	0.968069	P	0.35714	0.517	B	0.37989	0.262	D	0.99961	1.1734	10	0.87932	D	0	.	10.3535	0.43950	0.8353:0.1647:0.0:0.0	.	1238	Q9Y5Y9	SCNAA_HUMAN	R	1238	ENSP00000390600:L1238R	ENSP00000390600:L1238R	L	-	2	0	SCN10A	38730544	0.994000	0.37717	0.640000	0.29408	0.574000	0.36063	7.332000	0.79203	1.770000	0.52166	0.338000	0.21704	CTG	.		0.527	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514	
VIPR1	7433	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	3	42577629	42577629	+	Silent	SNP	C	C	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr3:42577629C>T	ENST00000325123.4	+	13	1343	c.1230C>T	c.(1228-1230)ggC>ggT	p.G410G	VIPR1_ENST00000543411.1_Silent_p.G362G|VIPR1-AS1_ENST00000610022.1_RNA|VIPR1-AS1_ENST00000452639.3_RNA|VIPR1_ENST00000438259.2_Silent_p.G200G|VIPR1_ENST00000433647.1_Silent_p.G369G|VIPR1-AS1_ENST00000608869.1_RNA	NM_001251885.1|NM_004624.3	NP_001238814.1|NP_004615.2	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	410					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|muscle contraction (GO:0006936)|positive regulation of cell proliferation (GO:0008284)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		ACCTGCAGGGCGTCCTGGGCT	0.682																																					p.G410G		.											.	VIPR1-91	0			c.C1230T						.						14.0	17.0	16.0					3																	42577629		2190	4293	6483	SO:0001819	synonymous_variant	7433	exon13			GCAGGGCGTCCTG	AH005329	CCDS2698.1, CCDS58827.1, CCDS58828.1, CCDS58829.1	3p22	2012-08-10			ENSG00000114812	ENSG00000114812		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	12694	protein-coding gene	gene with protein product	"""VIP and PACAP receptor 1"""	192321				7708752	Standard	NM_004624		Approved	VPAC1, RDC1, HVR1, VPAC1R	uc003clf.2	P32241	OTTHUMG00000131792	ENST00000325123.4:c.1230C>T	3.37:g.42577629C>T		Somatic	65	0		WXS	Illumina HiSeq	Phase_I	121	51	NM_004624	0	0	2	2	0	A5JUT9|B3KPV1|B4DEB5|B4DGI4|F5H1F5|G3V0I1|Q15871|Q6P2M6	Silent	SNP	ENST00000325123.4	37	CCDS2698.1																																																																																			.		0.682	VIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254728.4	NM_004624	
FLNB	2317	broad.mit.edu;bcgsc.ca	37	3	58154281	58154281	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr3:58154281A>G	ENST00000295956.4	+	44	7478	c.7313A>G	c.(7312-7314)tAc>tGc	p.Y2438C	FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000348383.5_Missense_Mutation_p.Y2397C|FLNB-AS1_ENST00000488720.1_RNA|FLNB_ENST00000484981.1_3'UTR|FLNB_ENST00000429972.2_Missense_Mutation_p.Y2427C|FLNB_ENST00000419752.2_Missense_Mutation_p.Y2258C|FLNB_ENST00000358537.3_Missense_Mutation_p.Y2414C|FLNB_ENST00000490882.1_Missense_Mutation_p.Y2469C|FLNB_ENST00000493452.1_Missense_Mutation_p.Y2245C	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2438	Interaction with INPPL1.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCTGAAGGGTACAAAGTCATG	0.522																																					p.Y2469C													.	FLNB-593	0			c.A7406G						.						107.0	89.0	95.0					3																	58154281		2203	4300	6503	SO:0001583	missense	2317	exon45			AAGGGTACAAAGT	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.7313A>G	3.37:g.58154281A>G	ENSP00000295956:p.Tyr2438Cys	Somatic	126	0		WXS	Illumina HiSeq	Phase_I	208	7	NM_001164317	0	0	57	61	4	B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.304102	0.81136	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D	0.90261	-2.64;-2.64;-2.64;-2.64;-2.64;-2.64;-2.64	4.67	4.67	0.58626	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.062472	0.64402	D	0.000003	D	0.93334	0.7875	L	0.52266	1.64	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.988;1.0;0.991;0.999;0.999	D	0.93660	0.6981	10	0.56958	D	0.05	.	14.3123	0.66424	1.0:0.0:0.0:0.0	.	2414;2469;2245;2258;2427;2438	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	C	2438;2469;2414;2427;2397;2245;2258	ENSP00000295956:Y2438C;ENSP00000420213:Y2469C;ENSP00000351339:Y2414C;ENSP00000415599:Y2427C;ENSP00000232447:Y2397C;ENSP00000418510:Y2245C;ENSP00000414532:Y2258C	ENSP00000295956:Y2438C	Y	+	2	0	FLNB	58129321	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.139000	0.94554	1.966000	0.57179	0.460000	0.39030	TAC	.		0.522	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457	
ROPN1	54763	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	123695737	123695737	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr3:123695737C>G	ENST00000184183.4	-	4	548	c.208G>C	c.(208-210)Gag>Cag	p.E70Q	ROPN1_ENST00000405845.3_Missense_Mutation_p.E70Q	NM_017578.2	NP_060048.2	Q9HAT0	ROP1A_HUMAN	rhophilin associated tail protein 1	70						cytoplasm (GO:0005737)|nucleus (GO:0005634)				lung(2)|ovary(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.148)		TTTAACAGCTCAGGTGTTAGC	0.542																																					p.E70Q		.											.	ROPN1-92	0			c.G208C						.						97.0	86.0	90.0					3																	123695737		2203	4300	6503	SO:0001583	missense	54763	exon4			ACAGCTCAGGTGT	AF231410	CCDS3026.1	3q21.1	2011-01-20	2011-01-20			ENSG00000065371			17692	protein-coding gene	gene with protein product	"""cancer/testis antigen 91"""	611757	"""ropporin, rhophilin associated protein 1"""			10591629	Standard	NM_017578		Approved	ODF6, ropporin, ROPN1A, CT91	uc003eha.3	Q9HAT0		ENST00000184183.4:c.208G>C	3.37:g.123695737C>G	ENSP00000184183:p.Glu70Gln	Somatic	187	0		WXS	Illumina HiSeq	Phase_I	235	40	NM_017578	0	0	0	0	0	D3DN99|Q9UF38	Missense_Mutation	SNP	ENST00000184183.4	37	CCDS3026.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.599790	0.46318	.	.	ENSG00000065371	ENST00000184183;ENST00000405845;ENST00000467907;ENST00000460743;ENST00000495336;ENST00000496145	T;T;T;T	0.31247	1.99;1.99;1.99;1.5	4.37	4.37	0.52481	.	0.000000	0.56097	D	0.000025	T	0.22282	0.0537	N	0.22421	0.69	0.80722	D	1	P	0.41313	0.745	B	0.38803	0.282	T	0.04870	-1.0921	10	0.46703	T	0.11	-26.3117	14.1277	0.65233	0.0:1.0:0.0:0.0	.	70	Q9HAT0	ROP1A_HUMAN	Q	70	ENSP00000184183:E70Q;ENSP00000385919:E70Q;ENSP00000417067:E70Q;ENSP00000420310:E70Q	ENSP00000184183:E70Q	E	-	1	0	ROPN1	125178427	1.000000	0.71417	1.000000	0.80357	0.042000	0.13812	4.230000	0.58632	2.304000	0.77564	0.551000	0.68910	GAG	.		0.542	ROPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356188.2	NM_017578	
MME	4311	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	154855893	154855893	+	Silent	SNP	T	T	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr3:154855893T>A	ENST00000460393.1	+	9	843	c.723T>A	c.(721-723)gcT>gcA	p.A241A	MME_ENST00000462745.1_Silent_p.A241A|MME_ENST00000360490.2_Silent_p.A241A|MME_ENST00000493237.1_Silent_p.A241A|MME_ENST00000492661.1_Silent_p.A241A	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	241					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	TCTTGCAGGCTTGTACAGCAT	0.323																																					p.A241A		.											.	MME-516	0			c.T723A						.						153.0	163.0	160.0					3																	154855893		2203	4300	6503	SO:0001819	synonymous_variant	4311	exon9			GCAGGCTTGTACA		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.723T>A	3.37:g.154855893T>A		Somatic	128	0		WXS	Illumina HiSeq	Phase_I	161	70	NM_007287	0	0	0	0	0	A8K6U6|D3DNJ9|Q3MIX4	Silent	SNP	ENST00000460393.1	37	CCDS3172.1																																																																																			.		0.323	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902	
MUC4	4585	bcgsc.ca	37	3	195510995	195510995	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr3:195510995C>T	ENST00000463781.3	-	2	7915	c.7456G>A	c.(7456-7458)Gct>Act	p.A2486T	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.A2486T|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACTGACGAAGCGTCGGTGACA	0.582																																					p.A2486T													.	MUC4-90	0			c.G7456A						.						55.0	48.0	50.0					3																	195510995		651	1590	2241	SO:0001583	missense	4585	exon2			ACGAAGCGTCGGT	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.7456G>A	3.37:g.195510995C>T	ENSP00000417498:p.Ala2486Thr	Somatic	789	10		WXS	Illumina HiSeq	Phase_1	1110	35	NM_018406	0	0	0	0	0	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.245192	0.22796	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.32023	1.47;1.47	.	.	.	.	.	.	.	.	T	0.12008	0.0292	N	0.08118	0	0.09310	N	1	B	0.14805	0.011	B	0.01281	0.0	T	0.31420	-0.9944	7	.	.	.	.	4.4198	0.11474	0.0:0.2603:0.0:0.7397	.	2486	E7ESK3	.	T	2486	ENSP00000417498:A2486T;ENSP00000420243:A2486T	.	A	-	1	0	MUC4	196995390	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-2.372000	0.01073	-0.437000	0.07243	0.000000	0.15137	GCT	.		0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC4	4585	bcgsc.ca	37	3	195515374	195515374	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr3:195515374G>T	ENST00000463781.3	-	2	3536	c.3077C>A	c.(3076-3078)cCt>cAt	p.P1026H	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P1026H|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	459	Repeat.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.S1013_T1028delSPSSVSTGHTTPLPVT(4)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTCGGTGACAGGAAGAGGGGT	0.567																																					p.P1026H													.	MUC4-90	4	Deletion - In frame(4)	stomach(4)	c.C3077A						.						48.0	25.0	32.0					3																	195515374		692	1590	2282	SO:0001583	missense	4585	exon2			GTGACAGGAAGAG	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.3077C>A	3.37:g.195515374G>T	ENSP00000417498:p.Pro1026His	Somatic	257	2		WXS	Illumina HiSeq	Phase_1	407	15	NM_018406	0	0	0	0	0	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	6.272	0.418315	0.11870	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.55588	0.51;0.53	1.0	1.0	0.19881	.	.	.	.	.	T	0.50939	0.1645	N	0.19112	0.55	0.09310	N	1	D	0.71674	0.998	D	0.67725	0.953	T	0.38714	-0.9648	8	.	.	.	.	8.0051	0.30321	0.0:0.0:1.0:0.0	.	1026	E7ESK3	.	H	1026	ENSP00000417498:P1026H;ENSP00000420243:P1026H	.	P	-	2	0	MUC4	196999769	0.017000	0.18338	0.002000	0.10522	0.078000	0.17371	1.245000	0.32790	0.883000	0.36040	0.064000	0.15345	CCT	.		0.567	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
GPR125	166647	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	22436990	22436990	+	Missense_Mutation	SNP	C	C	G	rs146147575		TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr4:22436990C>G	ENST00000334304.5	-	10	1656	c.1387G>C	c.(1387-1389)Gtg>Ctg	p.V463L	GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000508133.1_Missense_Mutation_p.V237L|GPR125_ENST00000502482.1_Missense_Mutation_p.V463L	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	463					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				ATTTCTGCCACAAATATAACA	0.388																																					p.V463L		.											.	GPR125-91	0			c.G1387C						.	C	LEU/VAL	1,4405	2.1+/-5.4	0,1,2202	81.0	80.0	80.0		1387	5.4	1.0	4	dbSNP_134	80	0,8600		0,0,4300	no	missense	GPR125	NM_145290.2	32	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	possibly-damaging	463/1322	22436990	1,13005	2203	4300	6503	SO:0001583	missense	166647	exon10			CTGCCACAAATAT	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.1387G>C	4.37:g.22436990C>G	ENSP00000334952:p.Val463Leu	Somatic	148	0		WXS	Illumina HiSeq	Phase_I	203	47	NM_145290	0	0	0	1	1	Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434578	0.62955	2.27E-4	0.0	ENSG00000152990	ENST00000334304;ENST00000508133;ENST00000502482	T;T;T	0.41400	1.0;1.0;1.0	5.42	5.42	0.78866	.	0.063133	0.64402	D	0.000006	T	0.45955	0.1368	L	0.38175	1.15	0.58432	D	0.999998	D;B;P;D	0.53312	0.957;0.448;0.851;0.959	P;B;P;P	0.49561	0.615;0.283;0.546;0.556	T	0.38243	-0.9670	10	0.48119	T	0.1	-35.6945	19.2098	0.93749	0.0:1.0:0.0:0.0	.	338;463;237;463	Q8IWK6-3;Q8IWK6-2;Q8IWK6-4;Q8IWK6	.;.;.;GP125_HUMAN	L	463;237;463	ENSP00000334952:V463L;ENSP00000422606:V237L;ENSP00000421006:V463L	ENSP00000334952:V463L	V	-	1	0	GPR125	22046088	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.377000	0.59562	2.528000	0.85240	0.563000	0.77884	GTG	C|1.000;G|0.000		0.388	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3		
TMEM156	80008	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	38988027	38988027	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr4:38988027T>A	ENST00000381938.3	-	5	859	c.752A>T	c.(751-753)aAa>aTa	p.K251I		NM_024943.1	NP_079219.1	Q8N614	TM156_HUMAN	transmembrane protein 156	251						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						AGATGTAGGTTTGTCTCTATG	0.373																																					p.K251I		.											.	TMEM156-91	0			c.A752T						.						97.0	87.0	90.0					4																	38988027		2203	4300	6503	SO:0001583	missense	80008	exon5			GTAGGTTTGTCTC	AK026888	CCDS3448.1	4p14	2008-02-05			ENSG00000121895	ENSG00000121895			26260	protein-coding gene	gene with protein product						12477932	Standard	NM_024943		Approved	FLJ23235	uc003gto.3	Q8N614	OTTHUMG00000128582	ENST00000381938.3:c.752A>T	4.37:g.38988027T>A	ENSP00000371364:p.Lys251Ile	Somatic	71	0		WXS	Illumina HiSeq	Phase_I	53	10	NM_024943	0	0	0	0	0	Q9H5N9	Missense_Mutation	SNP	ENST00000381938.3	37	CCDS3448.1	.	.	.	.	.	.	.	.	.	.	T	9.849	1.193176	0.22037	.	.	ENSG00000121895	ENST00000381938	T	0.26660	1.72	5.08	-0.654	0.11443	.	0.927636	0.09222	N	0.831791	T	0.25457	0.0619	L	0.48642	1.525	0.09310	N	1	P	0.43701	0.815	P	0.46389	0.515	T	0.20874	-1.0262	10	0.54805	T	0.06	-3.0832	4.5798	0.12253	0.0:0.1723:0.3153:0.5124	.	251	Q8N614	TM156_HUMAN	I	251	ENSP00000371364:K251I	ENSP00000371364:K251I	K	-	2	0	TMEM156	38664422	0.000000	0.05858	0.001000	0.08648	0.027000	0.11550	0.171000	0.16685	-0.126000	0.11682	0.379000	0.24179	AAA	.		0.373	TMEM156-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250435.3	NM_024943	
CLOCK	9575	broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	56301748	56301748	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr4:56301748A>G	ENST00000309964.4	-	22	2625	c.2375T>C	c.(2374-2376)cTc>cCc	p.L792P	CLOCK_ENST00000513440.1_Missense_Mutation_p.L792P|CLOCK_ENST00000381322.1_Missense_Mutation_p.L792P	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	792	Interaction with NR3C1. {ECO:0000250|UniProtKB:O08785}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|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)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			ATTCCCATGGAGCAACCTAGA	0.453																																					p.L792P													.	CLOCK-515	0			c.T2375C						.						191.0	178.0	183.0					4																	56301748		2203	4300	6503	SO:0001583	missense	9575	exon23			CCATGGAGCAACC	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	2082	protein-coding gene	gene with protein product		601851	"""clock (mouse) homolog"", ""clock homolog (mouse)"""			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.2375T>C	4.37:g.56301748A>G	ENSP00000308741:p.Leu792Pro	Somatic	192	2		WXS	Illumina HiSeq	Phase_I	193	53	NM_004898	0	0	0	2	2	A0AV01|A2I2N9|O14516|Q9UIT8	Missense_Mutation	SNP	ENST00000309964.4	37	CCDS3500.1	.	.	.	.	.	.	.	.	.	.	A	17.50	3.404140	0.62288	.	.	ENSG00000134852	ENST00000309964;ENST00000381322;ENST00000513440	T;T;T	0.10763	2.84;2.84;2.84	5.83	5.83	0.93111	.	1.213080	0.05401	N	0.540818	T	0.32102	0.0818	M	0.71206	2.165	0.80722	D	1	D	0.58970	0.984	P	0.55161	0.77	T	0.00292	-1.1842	10	0.42905	T	0.14	.	16.2025	0.82095	1.0:0.0:0.0:0.0	.	792	O15516	CLOCK_HUMAN	P	792	ENSP00000308741:L792P;ENSP00000370723:L792P;ENSP00000426983:L792P	ENSP00000308741:L792P	L	-	2	0	CLOCK	55996505	1.000000	0.71417	0.996000	0.52242	0.942000	0.58702	8.096000	0.89537	2.231000	0.72958	0.459000	0.35465	CTC	.		0.453	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898	
TBC1D9	23158	broad.mit.edu;bcgsc.ca	37	4	141590874	141590874	+	Silent	SNP	G	G	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr4:141590874G>A	ENST00000442267.2	-	8	1425	c.1351C>T	c.(1351-1353)Cta>Tta	p.L451L		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	451							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TTGCCATTTAGGTTAAACTGG	0.577																																					p.L451L													.	TBC1D9-23	0			c.C1351T						.						63.0	70.0	68.0					4																	141590874		2094	4216	6310	SO:0001819	synonymous_variant	23158	exon8			CATTTAGGTTAAA	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.1351C>T	4.37:g.141590874G>A		Somatic	205	0		WXS	Illumina HiSeq	Phase_I	243	9	NM_015130	0	0	2	2	0	A6H8U8|D3DNZ1|O94958	Silent	SNP	ENST00000442267.2	37	CCDS47136.1																																																																																			.		0.577	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130	
TIGD4	201798	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	153691183	153691183	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr4:153691183C>T	ENST00000304337.2	-	2	1794	c.974G>A	c.(973-975)aGc>aAc	p.S325N		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	325	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					GATTTTAAGGCTTTTAATAAC	0.323																																					p.S325N		.											.	TIGD4-91	0			c.G974A						.						75.0	78.0	77.0					4																	153691183		2203	4300	6503	SO:0001583	missense	201798	exon2			TTAAGGCTTTTAA	AK058054	CCDS34079.1	4q31.23	2008-02-05							18335	protein-coding gene	gene with protein product							Standard	NM_145720		Approved		uc003imy.3	Q8IY51		ENST00000304337.2:c.974G>A	4.37:g.153691183C>T	ENSP00000355162:p.Ser325Asn	Somatic	130	0		WXS	Illumina HiSeq	Phase_I	140	32	NM_145720	0	0	0	0	0	Q96LP5	Missense_Mutation	SNP	ENST00000304337.2	37	CCDS34079.1	.	.	.	.	.	.	.	.	.	.	C	1.757	-0.487660	0.04352	.	.	ENSG00000169989	ENST00000304337	T	0.45276	0.9	6.03	4.22	0.49857	.	0.326215	0.26620	N	0.023365	T	0.25938	0.0632	N	0.21448	0.665	0.27351	N	0.956258	B	0.17268	0.021	B	0.16289	0.015	T	0.12863	-1.0531	10	0.21540	T	0.41	-2.7406	8.7415	0.34560	0.0:0.7308:0.1218:0.1475	.	325	Q8IY51	TIGD4_HUMAN	N	325	ENSP00000355162:S325N	ENSP00000355162:S325N	S	-	2	0	TIGD4	153910633	1.000000	0.71417	1.000000	0.80357	0.643000	0.38383	1.186000	0.32078	1.465000	0.48006	-0.345000	0.07892	AGC	.		0.323	TIGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365028.1	NM_145720	
FASTKD3	79072	broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	7867846	7867846	+	Silent	SNP	A	A	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr5:7867846A>G	ENST00000264669.5	-	2	487	c.351T>C	c.(349-351)agT>agC	p.S117S	MTRR_ENST00000264668.2_5'Flank|FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000341013.6_5'Flank|MTRR_ENST00000440940.2_5'Flank|MTRR_ENST00000502509.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	117					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGCTTATAAAACTTAGCACTT	0.423																																					p.S117S													.	FASTKD3-156	0			c.T351C						.						55.0	53.0	54.0					5																	7867846		2203	4300	6503	SO:0001819	synonymous_variant	79072	exon2			TATAAAACTTAGC	AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.351T>C	5.37:g.7867846A>G		Somatic	116	1		WXS	Illumina HiSeq	Phase_I	126	55	NM_024091	0	0	1	1	0	Q9BVD3	Silent	SNP	ENST00000264669.5	37	CCDS3873.1																																																																																			.		0.423	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	NM_024091	
CDH9	1007	broad.mit.edu	37	5	26988231	26988231	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr5:26988231G>T	ENST00000231021.4	-	2	382	c.210C>A	c.(208-210)gaC>gaA	p.D70E		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	70	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CATATTGTGTGTCAGTACCTG	0.393																																					p.D70E	Melanoma(8;187 585 15745 40864 52829)												.	CDH9-99	0			c.C210A						.																																			SO:0001583	missense	1007	exon2			TTGTGTGTCAGTA	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.210C>A	5.37:g.26988231G>T	ENSP00000231021:p.Asp70Glu	Somatic	81	0		WXS	Illumina HiSeq	Phase_I	102	5	NM_016279	0	0	0	0	0	Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.355301	0.41700	.	.	ENSG00000113100	ENST00000231021;ENST00000513289;ENST00000511822	T;T;T	0.00584	6.4;6.4;6.4	5.64	3.87	0.44632	Cadherin (1);Cadherin-like (1);	0.049238	0.85682	D	0.000000	T	0.00552	0.0018	N	0.05306	-0.075	0.41042	D	0.98523	D;B	0.54207	0.965;0.04	P;B	0.53760	0.734;0.059	D	0.85933	0.1453	9	.	.	.	.	7.5213	0.27629	0.3198:0.0:0.6802:0.0	.	70;70	E7EPN0;Q9ULB4	.;CADH9_HUMAN	E	70	ENSP00000231021:D70E;ENSP00000426239:D70E;ENSP00000422538:D70E	.	D	-	3	2	CDH9	27023988	0.999000	0.42202	1.000000	0.80357	0.985000	0.73830	0.662000	0.25038	0.745000	0.32763	0.591000	0.81541	GAC	.		0.393	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279	
GPR98	84059	broad.mit.edu	37	5	89971181	89971181	+	Silent	SNP	C	C	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr5:89971181C>T	ENST00000405460.2	+	24	5328	c.5232C>T	c.(5230-5232)atC>atT	p.I1744I	GPR98_ENST00000450321.2_3'UTR	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1744	Calx-beta 12. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TATTGGTCATCCGTGCACAGG	0.507																																					p.I1744I													.	GPR98-103	0			c.C5232T						.						90.0	95.0	94.0					5																	89971181		2027	4195	6222	SO:0001819	synonymous_variant	84059	exon24			GGTCATCCGTGCA	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.5232C>T	5.37:g.89971181C>T		Somatic	254	0		WXS	Illumina HiSeq	Phase_I	350	6	NM_032119	0	0	0	0	0	O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	CCDS47246.1																																																																																			.		0.507	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
GIN1	54826	broad.mit.edu	37	5	102432357	102432357	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr5:102432357G>C	ENST00000399004.2	-	7	1276	c.1182C>G	c.(1180-1182)gaC>gaG	p.D394E	GIN1_ENST00000508629.1_Intron	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	394					DNA integration (GO:0015074)		nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		CTGTAATATAGTCTATGACAC	0.398																																					p.D394E													.	GIN1-92	0			c.C1182G						.						246.0	232.0	236.0					5																	102432357		1869	4105	5974	SO:0001583	missense	54826	exon7			AATATAGTCTATG	BC015325	CCDS43349.1	5q21.1	2008-02-11	2007-06-13	2007-06-13		ENSG00000145723			25959	protein-coding gene	gene with protein product	"""gypsy integrase 1"", ""Ty3/Gypsy integrase 1"""		"""zinc finger, H2C2 domain containing"""	ZH2C2		11470852	Standard	NM_017676		Approved	FLJ20125, GIN-1, TGIN1	uc003koa.1	Q9NXP7		ENST00000399004.2:c.1182C>G	5.37:g.102432357G>C	ENSP00000381970:p.Asp394Glu	Somatic	112	0		WXS	Illumina HiSeq	Phase_I	162	4	NM_017676	0	0	2	2	0	B2RXF7|B4DIV4|Q6AI03|Q96BR2	Missense_Mutation	SNP	ENST00000399004.2	37	CCDS43349.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659656	0.67586	.	.	ENSG00000145723	ENST00000399004	T	0.17054	2.3	5.68	3.91	0.45181	.	0.000000	0.43110	U	0.000610	T	0.24699	0.0599	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.02208	-1.1195	10	0.25751	T	0.34	-17.0316	8.8545	0.35221	0.2495:0.0:0.7505:0.0	.	394	Q9NXP7	GIN1_HUMAN	E	394	ENSP00000381970:D394E	ENSP00000381970:D394E	D	-	3	2	GIN1	102460256	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	1.738000	0.38207	0.754000	0.32968	0.655000	0.94253	GAC	.		0.398	GIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370478.3	NM_017676	
WNT8A	7478	broad.mit.edu	37	5	137426733	137426733	+	Missense_Mutation	SNP	G	G	T	rs568267809		TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr5:137426733G>T	ENST00000398754.1	+	6	1032	c.1027G>T	c.(1027-1029)Gcc>Tcc	p.A343S	WNT8A_ENST00000506684.1_Missense_Mutation_p.A361S	NM_058244.2	NP_490645.1	Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A	343					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|endoderm development (GO:0007492)|establishment of organ orientation (GO:0048561)|neural crest cell fate commitment (GO:0014034)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|polarity specification of anterior/posterior axis (GO:0009949)|polarity specification of proximal/distal axis (GO:0010085)|regulation of protein localization (GO:0032880)|regulation of transcription involved in anterior/posterior axis specification (GO:0044324)|response to retinoic acid (GO:0032526)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)	p.A343S(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CCCAGGCAGTGCCCAGTCCCT	0.507																																					p.A343S													.	WNT8A-524	2	Substitution - Missense(2)	endometrium(1)|skin(1)	c.G1027T						.						93.0	88.0	90.0					5																	137426733		2003	4184	6187	SO:0001583	missense	7478	exon6			GGCAGTGCCCAGT	AB057725	CCDS43368.1, CCDS75311.1	5q31	2008-07-18			ENSG00000061492	ENSG00000061492		"""Wingless-type MMTV integration sites"""	12788	protein-coding gene	gene with protein product		606360				11408932	Standard	XM_005272076		Approved	WNT8D	uc003lcd.1	Q9H1J5	OTTHUMG00000129196	ENST00000398754.1:c.1027G>T	5.37:g.137426733G>T	ENSP00000381739:p.Ala343Ser	Somatic	58	0		WXS	Illumina HiSeq	Phase_I	105	9	NM_058244	0	0	0	0	0	Q96S51	Missense_Mutation	SNP	ENST00000398754.1	37	CCDS43368.1	.	.	.	.	.	.	.	.	.	.	G	9.870	1.198599	0.22121	.	.	ENSG00000061492	ENST00000506684;ENST00000398754	T;T	0.75477	-0.84;-0.94	4.58	0.217	0.15264	.	1.018450	0.07797	N	0.955811	T	0.55909	0.1950	N	0.19112	0.55	0.09310	N	1	B;B	0.13145	0.007;0.001	B;B	0.14023	0.01;0.003	T	0.40001	-0.9586	10	0.33141	T	0.24	.	4.8751	0.13653	0.1839:0.0:0.5089:0.3072	.	361;343	D6RF47;Q9H1J5	.;WNT8A_HUMAN	S	361;343	ENSP00000426653:A361S;ENSP00000381739:A343S	ENSP00000354726:A343S	A	+	1	0	WNT8A	137454632	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.381000	0.20619	0.172000	0.19760	0.557000	0.71058	GCC	.		0.507	WNT8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280395.1	NM_058244	
NMUR2	56923	broad.mit.edu;bcgsc.ca	37	5	151784506	151784506	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr5:151784506C>A	ENST00000255262.3	-	1	334	c.169G>T	c.(169-171)Gtg>Ttg	p.V57L	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	57					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			ACCCCCACCACAAAAATTGGC	0.572																																					p.V57L													.	NMUR2-526	0			c.G169T						.						103.0	95.0	98.0					5																	151784506		2203	4300	6503	SO:0001583	missense	56923	exon1			CCACCACAAAAAT	AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"""GPCR / Class A : Neuromedin U receptors"""	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.169G>T	5.37:g.151784506C>A	ENSP00000255262:p.Val57Leu	Somatic	176	0		WXS	Illumina HiSeq	Phase_I	238	9	NM_020167	0	0	0	0	0	Q7LC54|Q96AM5|Q9NRA6	Missense_Mutation	SNP	ENST00000255262.3	37	CCDS4321.1	.	.	.	.	.	.	.	.	.	.	C	4.823	0.153028	0.09185	.	.	ENSG00000132911	ENST00000255262	T	0.34667	1.35	5.54	2.68	0.31781	.	0.692044	0.13884	N	0.356069	T	0.22205	0.0535	N	0.17631	0.505	0.33114	D	0.540968	B	0.06786	0.001	B	0.04013	0.001	T	0.23940	-1.0174	10	0.22109	T	0.4	-3.2666	10.015	0.42010	0.0:0.5382:0.3902:0.0716	.	57	Q9GZQ4	NMUR2_HUMAN	L	57	ENSP00000255262:V57L	ENSP00000255262:V57L	V	-	1	0	NMUR2	151764699	0.604000	0.26932	0.985000	0.45067	0.114000	0.19823	-0.013000	0.12678	0.691000	0.31592	0.655000	0.94253	GTG	.		0.572	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1	NM_020167	
HUS1B	135458	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	656335	656335	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr6:656335A>T	ENST00000380907.2	-	1	628	c.610T>A	c.(610-612)Ttt>Att	p.F204I	EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	204					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)	checkpoint clamp complex (GO:0030896)|nucleolus (GO:0005730)				endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		AGATTTTTAAAATAACTTTGA	0.532																																					p.F204I		.											.	HUS1B-227	0			c.T610A						.						96.0	107.0	103.0					6																	656335		2203	4300	6503	SO:0001583	missense	135458	exon1			TTTTAAAATAACT	AF508547	CCDS4470.1	6p25.3	2008-08-08	2001-11-28		ENSG00000188996	ENSG00000188996			16485	protein-coding gene	gene with protein product		609713	"""HUS1 (S. pombe) checkpoint homolog b"""			11944979	Standard	NM_148959		Approved		uc003mtg.3	Q8NHY5	OTTHUMG00000090059	ENST00000380907.2:c.610T>A	6.37:g.656335A>T	ENSP00000370293:p.Phe204Ile	Somatic	101	0		WXS	Illumina HiSeq	Phase_I	103	27	NM_148959	0	0	0	0	0	Q5T4Z2	Missense_Mutation	SNP	ENST00000380907.2	37	CCDS4470.1	.	.	.	.	.	.	.	.	.	.	A	17.01	3.279334	0.59758	.	.	ENSG00000188996	ENST00000380907	T	0.17854	2.25	3.61	2.42	0.29668	.	0.143577	0.46442	U	0.000298	T	0.21801	0.0525	M	0.79011	2.435	0.58432	D	0.999996	D	0.69078	0.997	D	0.63381	0.914	T	0.02104	-1.1213	10	0.59425	D	0.04	.	5.756	0.18172	0.871:0.0:0.129:0.0	.	204	Q8NHY5	HUS1B_HUMAN	I	204	ENSP00000370293:F204I	ENSP00000370293:F204I	F	-	1	0	HUS1B	601335	0.999000	0.42202	0.011000	0.14972	0.048000	0.14542	1.596000	0.36718	0.560000	0.29169	0.533000	0.62120	TTT	.		0.532	HUS1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205617.2	NM_148959	
SERPINB6	5269	broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	2948772	2948772	+	Silent	SNP	C	C	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr6:2948772C>A	ENST00000380520.1	-	6	2885	c.891G>T	c.(889-891)ctG>ctT	p.L297L	SERPINB6_ENST00000380529.1_Silent_p.L297L|SERPINB6_ENST00000335686.5_Silent_p.L297L|SERPINB6_ENST00000380546.3_Silent_p.L297L|SERPINB6_ENST00000380539.1_Silent_p.L297L|SERPINB6_ENST00000380524.1_Silent_p.L297L			P35237	SPB6_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 6	297					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	CTGCCTTGCCCAGCTCGAAGG	0.552																																					p.L316L													.	SERPINB6-226	0			c.G948T						.						127.0	118.0	121.0					6																	2948772		2203	4300	6503	SO:0001819	synonymous_variant	5269	exon7			CTTGCCCAGCTCG	Z22658	CCDS4479.1, CCDS75386.1, CCDS75387.1	6p25.2	2014-02-18	2005-08-18		ENSG00000124570	ENSG00000124570		"""Serine (or cysteine) peptidase inhibitors"""	8950	protein-coding gene	gene with protein product	"""cytoplasmic antiproteinase"""	173321	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 6"", ""deafness, autosomal recessive 91"""	PI6, DFNB91		8415716, 9858835, 20451170, 24172014	Standard	NM_004568		Approved	PTI, CAP	uc031smo.1	P35237	OTTHUMG00000016170	ENST00000380520.1:c.891G>T	6.37:g.2948772C>A		Somatic	158	1		WXS	Illumina HiSeq	Phase_I	201	48	NM_001271823	0	0	52	73	21	B2RBA8|Q59F97|Q5TD06|Q7Z2Y7|Q96J44|Q9UDI7	Silent	SNP	ENST00000380520.1	37	CCDS4479.1	.	.	.	.	.	.	.	.	.	.	C	3.561	-0.089585	0.07053	.	.	ENSG00000124570	ENST00000380500	.	.	.	5.17	0.173	0.15036	.	.	.	.	.	T	0.10380	0.0254	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.34329	-0.9833	4	.	.	.	.	5.7342	0.18057	0.0:0.4744:0.2553:0.2702	.	.	.	.	L	102	.	.	W	-	2	0	SERPINB6	2893771	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-3.049000	0.00629	0.100000	0.17581	0.558000	0.71614	TGG	.		0.552	SERPINB6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043422.1		
VWA7	80737	broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	31735431	31735431	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr6:31735431T>C	ENST00000375688.4	-	11	1804	c.1604A>G	c.(1603-1605)gAc>gGc	p.D535G	VWA7_ENST00000447450.1_Missense_Mutation_p.D535G|VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000375686.3_Missense_Mutation_p.D535G|SAPCD1-AS1_ENST00000419679.1_RNA			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	535						extracellular region (GO:0005576)											GCTGCTGATGTCTCCGTGGAT	0.572																																					p.D535G													.	.	0			c.A1604G						.						161.0	162.0	162.0					6																	31735431		2203	4300	6503	SO:0001583	missense	80737	exon11			CTGATGTCTCCGT		CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"""chromosome 6 open reading frame 27"""	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.1604A>G	6.37:g.31735431T>C	ENSP00000364840:p.Asp535Gly	Somatic	130	1		WXS	Illumina HiSeq	Phase_I	133	40	NM_025258	0	0	6	10	4	A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Missense_Mutation	SNP	ENST00000375688.4	37	CCDS4721.2	.	.	.	.	.	.	.	.	.	.	T	10.52	1.374412	0.24857	.	.	ENSG00000204396	ENST00000375688;ENST00000375686;ENST00000447450	T;T;T	0.31769	2.69;2.47;1.48	4.95	4.95	0.65309	.	0.672013	0.15404	N	0.264144	T	0.12944	0.0314	L	0.40543	1.245	0.32873	D	0.50954	B	0.22146	0.065	B	0.21546	0.035	T	0.08027	-1.0742	10	0.29301	T	0.29	-3.0526	12.6028	0.56506	0.0:0.0:0.0:1.0	.	535	Q9Y334	G7C_HUMAN	G	535	ENSP00000364840:D535G;ENSP00000364838:D535G;ENSP00000390554:D535G	ENSP00000364838:D535G	D	-	2	0	C6orf27	31843410	0.997000	0.39634	0.399000	0.26333	0.155000	0.21991	4.327000	0.59247	2.070000	0.61991	0.459000	0.35465	GAC	.		0.572	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076233.2	NM_025258	
RHAG	6005	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	49586991	49586991	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr6:49586991C>T	ENST00000371175.4	-	2	268	c.242G>A	c.(241-243)gGt>gAt	p.G81D	RHAG_ENST00000229810.7_Missense_Mutation_p.G81D	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	81					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|carbon dioxide transport (GO:0015670)|cellular ion homeostasis (GO:0006873)|erythrocyte development (GO:0048821)|multicellular organismal iron ion homeostasis (GO:0060586)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					TAGGTTGATACCCACACTGCT	0.443																																					p.G81D	Ovarian(176;476 2003 7720 43408 44749)	.											.	RHAG-154	0			c.G242A						.						112.0	95.0	101.0					6																	49586991		2203	4300	6503	SO:0001583	missense	6005	exon2			TTGATACCCACAC		CCDS4927.1	6p12.3	2014-07-19	2006-02-23		ENSG00000112077	ENSG00000112077		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	10006	protein-coding gene	gene with protein product		180297	"""Rhesus blood group-associated glycoprotein"""			9479501	Standard	NM_000324		Approved	RH50A, CD241, SLC42A1	uc003ozk.4	Q02094	OTTHUMG00000016377	ENST00000371175.4:c.242G>A	6.37:g.49586991C>T	ENSP00000360217:p.Gly81Asp	Somatic	98	0		WXS	Illumina HiSeq	Phase_I	130	30	NM_000324	0	0	0	0	0	B2R8T8|O43514|O43515|Q7L8L3|Q9H454	Missense_Mutation	SNP	ENST00000371175.4	37	CCDS4927.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972877	0.74246	.	.	ENSG00000112077	ENST00000371175;ENST00000229810;ENST00000418071;ENST00000539403	T;T	0.24538	1.85;1.85	5.62	5.62	0.85841	Ammonium transporter AmtB-like (3);	0.043100	0.85682	D	0.000000	T	0.59211	0.2177	H	0.94658	3.565	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.76071	0.987;0.987;0.983	T	0.71497	-0.4575	10	0.87932	D	0	-11.5221	18.6546	0.91448	0.0:1.0:0.0:0.0	.	81;81;81	O43515;Q9UHG9;Q02094	.;.;RHAG_HUMAN	D	81	ENSP00000360217:G81D;ENSP00000229810:G81D	ENSP00000229810:G81D	G	-	2	0	RHAG	49694950	1.000000	0.71417	0.938000	0.37757	0.238000	0.25445	7.792000	0.85828	2.640000	0.89533	0.591000	0.81541	GGT	.		0.443	RHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043806.1		
CD164	8763	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	109690201	109690201	+	Silent	SNP	C	C	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr6:109690201C>T	ENST00000310786.4	-	6	512	c.447G>A	c.(445-447)gtG>gtA	p.V149V	CD164_ENST00000506649.1_5'UTR|CD164_ENST00000413644.2_Silent_p.V149V|CD164_ENST00000275080.7_Silent_p.V136V|CD164_ENST00000512821.1_Intron|CD164_ENST00000324953.5_Silent_p.V130V|CD164_ENST00000368961.5_Silent_p.V117V|CD164_ENST00000504373.1_Silent_p.V115V	NM_001142404.1|NM_006016.4	NP_001135876.1|NP_006007.2	Q04900	MUC24_HUMAN	CD164 molecule, sialomucin	149	Thr-rich.				cell adhesion (GO:0007155)|hemopoiesis (GO:0030097)|heterophilic cell-cell adhesion (GO:0007157)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|muscle organ development (GO:0007517)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(1)|lung(2)	3		all_cancers(87;4.65e-22)|all_epithelial(87;2.54e-20)|all_lung(197;1.6e-05)|Lung NSC(302;2.92e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.0175)		Epithelial(106;7.83e-46)|all cancers(137;1.15e-45)|OV - Ovarian serous cystadenocarcinoma(136;2.89e-26)|BRCA - Breast invasive adenocarcinoma(108;0.00128)|GBM - Glioblastoma multiforme(226;0.16)		AGGTTGGAGTCACAGTGTTAT	0.408																																					p.V149V		.											.	CD164-90	0			c.G447A						.						114.0	96.0	102.0					6																	109690201		2203	4300	6503	SO:0001819	synonymous_variant	8763	exon6			TGGAGTCACAGTG	AF106518	CCDS5073.1, CCDS47462.1, CCDS47463.1, CCDS47464.1, CCDS47465.1	6q21	2014-09-05	2006-03-28		ENSG00000135535	ENSG00000135535		"""CD molecules"""	1632	protein-coding gene	gene with protein product		603356	"""CD164 antigen, sialomucin"""			9680353, 9763543	Standard	NM_006016		Approved	MUC-24, MGC-24	uc003pte.3	Q04900	OTTHUMG00000015339	ENST00000310786.4:c.447G>A	6.37:g.109690201C>T		Somatic	194	0		WXS	Illumina HiSeq	Phase_I	177	39	NM_006016	0	0	78	136	58	B4DQ85|E1P5E7|E1P5E8|E1P5E9|O95413|Q5JSU6|Q9BPV0|Q9NR26	Silent	SNP	ENST00000310786.4	37	CCDS5073.1																																																																																			.		0.408	CD164-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041742.1	NM_006016	
SNX9	51429	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	158330822	158330822	+	Splice_Site	SNP	T	T	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr6:158330822T>G	ENST00000392185.3	+	8	1002	c.831T>G	c.(829-831)acT>acG	p.T277T		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	277	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|lipid tube assembly (GO:0060988)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein oligomerization (GO:0032461)|receptor-mediated endocytosis (GO:0006898)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	1-phosphatidylinositol binding (GO:0005545)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		TAACACCTACTGTAAGTATCC	0.393																																					p.T277T		.											.	SNX9-226	0			c.T831G						.						172.0	168.0	169.0					6																	158330822		2203	4300	6503	SO:0001630	splice_region_variant	51429	exon8			ACCTACTGTAAGT	AF121859	CCDS5253.1	6q25.1-q26	2008-05-22			ENSG00000130340	ENSG00000130340		"""Sorting nexins"""	14973	protein-coding gene	gene with protein product		605952				10531379, 17609109	Standard	NM_016224		Approved	SH3PX1, SDP1, SH3PXD3A	uc003qqv.1	Q9Y5X1	OTTHUMG00000015903	ENST00000392185.3:c.831+1T>G	6.37:g.158330822T>G		Somatic	85	0		WXS	Illumina HiSeq	Phase_I	104	26	NM_016224	0	0	0	0	0	Q9BSI7|Q9BVM1|Q9UJH6|Q9UP20	Silent	SNP	ENST00000392185.3	37	CCDS5253.1																																																																																			.		0.393	SNX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042856.1		Silent
MICALL2	79778	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	1478499	1478499	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr7:1478499T>G	ENST00000297508.7	-	10	2274	c.2099A>C	c.(2098-2100)aAa>aCa	p.K700T	MICALL2_ENST00000471899.1_5'UTR|MICALL2_ENST00000405088.4_Missense_Mutation_p.K488T	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	700	Forms an intramolecular interaction with the N-terminal CH and LIM zinc-binding domains-containing region keeping the protein in a closed conformation. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		AAGGTGAGGTTTCTTCTCCTC	0.632																																					p.K700T		.											.	MICALL2-90	0			c.A2099C						.						80.0	79.0	79.0					7																	1478499		2203	4300	6503	SO:0001583	missense	79778	exon10			TGAGGTTTCTTCT	BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"""junctional Rab13-binding protein"""					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.2099A>C	7.37:g.1478499T>G	ENSP00000297508:p.Lys700Thr	Somatic	33	0		WXS	Illumina HiSeq	Phase_I	43	13	NM_182924	0	0	2	3	1	D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Missense_Mutation	SNP	ENST00000297508.7	37	CCDS5324.1	.	.	.	.	.	.	.	.	.	.	T	7.035	0.561374	0.13498	.	.	ENSG00000164877	ENST00000405088;ENST00000297508	T;T	0.71698	2.33;-0.59	1.61	-2.18	0.07037	.	0.219361	0.22804	N	0.055427	T	0.42449	0.1203	N	0.24115	0.695	0.09310	N	1	B;P	0.42908	0.267;0.793	B;B	0.37601	0.039;0.254	T	0.41822	-0.9487	10	0.24483	T	0.36	.	1.4582	0.02390	0.3162:0.2383:0.0:0.4454	.	700;488	Q8IY33;D3YTD2	MILK2_HUMAN;.	T	488;700	ENSP00000385928:K488T;ENSP00000297508:K700T	ENSP00000297508:K700T	K	-	2	0	MICALL2	1445025	0.000000	0.05858	0.003000	0.11579	0.171000	0.22731	-0.124000	0.10595	-0.123000	0.11745	0.260000	0.18958	AAA	.		0.632	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239223.2	NM_182924	
HIBADH	11112	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	27582616	27582616	+	Silent	SNP	C	C	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr7:27582616C>G	ENST00000265395.2	-	5	794	c.588G>C	c.(586-588)gtG>gtC	p.V196V		NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase	196					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	mitochondrial matrix (GO:0005759)	3-hydroxyisobutyrate dehydrogenase activity (GO:0008442)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)			CACAGTACACCACGTTGGAGC	0.468																																					p.V196V		.											.	HIBADH-92	0			c.G588C						.						97.0	87.0	91.0					7																	27582616		2203	4300	6503	SO:0001819	synonymous_variant	11112	exon5			GTACACCACGTTG	AF529362	CCDS5414.1	7p15	2009-06-12			ENSG00000106049	ENSG00000106049	1.1.1.31		4907	protein-coding gene	gene with protein product		608475					Standard	NM_152740		Approved	NS5ATP1	uc003szf.3	P31937	OTTHUMG00000097035	ENST00000265395.2:c.588G>C	7.37:g.27582616C>G		Somatic	118	0		WXS	Illumina HiSeq	Phase_I	142	34	NM_152740	0	0	58	122	64	Q546Z2|Q9UDN3	Silent	SNP	ENST00000265395.2	37	CCDS5414.1	.	.	.	.	.	.	.	.	.	.	C	7.289	0.610641	0.14066	.	.	ENSG00000106049	ENST00000425715	.	.	.	6.02	4.21	0.49690	.	.	.	.	.	T	0.58104	0.2099	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53760	-0.8393	4	.	.	.	-2.1097	7.8405	0.29395	0.1159:0.6925:0.0:0.1916	.	.	.	.	S	139	.	.	W	-	2	0	HIBADH	27549141	0.993000	0.37304	0.856000	0.33681	0.715000	0.41141	0.664000	0.25068	0.865000	0.35603	0.655000	0.94253	TGG	.		0.468	HIBADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214132.1	NM_152740	
ZAN	7455	broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	100344177	100344177	+	RNA	SNP	C	C	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr7:100344177C>T	ENST00000348028.3	+	0	948				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000542585.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCTACATGCTCCTGGACCCCA	0.577																																					.													.	ZAN-142	0			.						.						51.0	58.0	56.0					7																	100344177		2028	4180	6208			7455	.			CATGCTCCTGGAC	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100344177C>T		Somatic	101	0		WXS	Illumina HiSeq	Phase_I	113	30	.	0	0	0	0	0	A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Silent	SNP	ENST00000348028.3	37																																																																																				.		0.577	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386	
PPP1R3A	5506	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	113519562	113519562	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr7:113519562T>C	ENST00000284601.3	-	4	1653	c.1585A>G	c.(1585-1587)Aaa>Gaa	p.K529E		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	529					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTTCTTTGTTTTTCATTAACA	0.343																																					p.K529E		.											.	PPP1R3A-832	0			c.A1585G						.						77.0	71.0	73.0					7																	113519562		2203	4300	6503	SO:0001583	missense	5506	exon4			TTTGTTTTTCATT	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1585A>G	7.37:g.113519562T>C	ENSP00000284601:p.Lys529Glu	Somatic	96	0		WXS	Illumina HiSeq	Phase_I	90	11	NM_002711	0	0	0	0	0	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	T	10.63	1.404017	0.25291	.	.	ENSG00000154415	ENST00000284601	T	0.17054	2.3	6.02	4.81	0.61882	.	0.792728	0.11805	N	0.527776	T	0.14830	0.0358	M	0.63428	1.95	0.09310	N	1	P	0.44734	0.842	B	0.31442	0.13	T	0.30179	-0.9987	10	0.52906	T	0.07	-0.2155	6.933	0.24451	0.1335:0.0719:0.0:0.7946	.	529	Q16821	PPR3A_HUMAN	E	529	ENSP00000284601:K529E	ENSP00000284601:K529E	K	-	1	0	PPP1R3A	113306798	0.941000	0.31946	0.713000	0.30519	0.230000	0.25150	1.271000	0.33098	2.311000	0.77944	0.533000	0.62120	AAA	.		0.343	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711	
CTTNBP2	83992	bcgsc.ca	37	7	117375372	117375372	+	Silent	SNP	C	C	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr7:117375372C>T	ENST00000160373.3	-	15	3730	c.3639G>A	c.(3637-3639)ttG>ttA	p.L1213L		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1213			L -> V (in dbSNP:rs62617115). {ECO:0000269|PubMed:11707066}.		brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CAAGAGGTGCCAAAAAGTCCC	0.393																																					p.L1213L													.	CTTNBP2-94	0			c.G3639A						.						65.0	70.0	68.0					7																	117375372		2203	4300	6503	SO:0001819	synonymous_variant	83992	exon15			AGGTGCCAAAAAG		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.3639G>A	7.37:g.117375372C>T		Somatic	44	0		WXS	Illumina HiSeq	Phase_1	39	4	NM_033427	0	0	0	0	0	O43389|Q7LG11|Q9C0A5	Silent	SNP	ENST00000160373.3	37	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	C	9.301	1.053182	0.19907	.	.	ENSG00000077063	ENST00000446636	.	.	.	5.52	4.63	0.57726	.	.	.	.	.	T	0.57932	0.2087	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53872	-0.8377	4	.	.	.	-2.1882	8.2124	0.31492	0.1376:0.7331:0.0:0.1293	.	.	.	.	S	701	.	.	G	-	1	0	CTTNBP2	117162608	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	1.035000	0.30216	2.745000	0.94114	0.655000	0.94253	GGC	.		0.393	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427	
PAXIP1	22976	broad.mit.edu	37	7	154754041	154754041	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr7:154754041C>T	ENST00000404141.1	-	10	2271	c.2117G>A	c.(2116-2118)tGt>tAt	p.C706Y	PAXIP1_ENST00000397192.1_Missense_Mutation_p.C706Y|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	706	BRCT 4. {ECO:0000255|PROSITE- ProRule:PRU00033}.|Interaction with TP53BP1.				adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		ATGCTGTGAACATGGCTTTCC	0.493																																					p.C706Y													.	PAXIP1-228	0			c.G2117A						.						184.0	186.0	185.0					7																	154754041		1973	4143	6116	SO:0001583	missense	22976	exon10			TGTGAACATGGCT	U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"""PAX transcription activation domain interacting protein 1 like"""	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.2117G>A	7.37:g.154754041C>T	ENSP00000384048:p.Cys706Tyr	Somatic	158	0		WXS	Illumina HiSeq	Phase_I	188	5	NM_007349	0	0	0	0	0	O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Missense_Mutation	SNP	ENST00000404141.1	37	CCDS47753.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.992709	0.54041	.	.	ENSG00000157212	ENST00000404141;ENST00000397192;ENST00000357094;ENST00000323199	T;T	0.40756	1.02;1.02	4.91	4.91	0.64330	BRCT (2);	0.000000	0.64402	U	0.000009	T	0.64702	0.2622	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.99;0.985;0.999	T	0.68648	-0.5353	10	0.87932	D	0	-19.2775	18.4584	0.90729	0.0:1.0:0.0:0.0	.	659;672;706	B4DEQ6;Q6ZW49-1;Q6ZW49	.;.;PAXI1_HUMAN	Y	706;706;530;659	ENSP00000384048:C706Y;ENSP00000380376:C706Y	ENSP00000319149:C659Y	C	-	2	0	PAXIP1	154384974	1.000000	0.71417	0.075000	0.20258	0.673000	0.39480	7.158000	0.77470	2.426000	0.82243	0.467000	0.42956	TGT	.		0.493	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322223.1	NM_007349	
PTPRN2	5799	broad.mit.edu;bcgsc.ca	37	7	157369349	157369349	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr7:157369349G>C	ENST00000389418.4	-	19	2748	c.2739C>G	c.(2737-2739)gaC>gaG	p.D913E	PTPRN2_ENST00000389416.4_Missense_Mutation_p.D896E|PTPRN2_ENST00000389413.3_Missense_Mutation_p.D884E|PTPRN2_ENST00000404321.2_Missense_Mutation_p.D936E|MIR153-2_ENST00000385225.1_RNA|PTPRN2_ENST00000409483.1_Missense_Mutation_p.D875E	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	913	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GGACTCCTCGGTCATACCAAC	0.632																																					p.D913E													.	PTPRN2-295	0			c.C2739G						.						84.0	66.0	72.0					7																	157369349		2203	4300	6503	SO:0001583	missense	5799	exon19			TCCTCGGTCATAC	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.2739C>G	7.37:g.157369349G>C	ENSP00000374069:p.Asp913Glu	Somatic	95	1		WXS	Illumina HiSeq	Phase_I	92	7	NM_002847	0	0	0	0	0	E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	ENST00000389418.4	37	CCDS5947.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.577030	0.65878	.	.	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92	5.44	5.44	0.79542	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.85682	D	0.000000	T	0.24661	0.0598	L	0.38838	1.175	0.47065	D	0.999308	B;B;B;P;B	0.45078	0.027;0.034;0.027;0.85;0.034	B;B;B;P;B	0.49276	0.038;0.093;0.056;0.605;0.064	T	0.02326	-1.1176	10	0.02654	T	1	.	13.0262	0.58817	0.0829:0.0:0.9171:0.0	.	936;875;884;896;913	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	E	875;884;896;913;936	ENSP00000387114:D875E;ENSP00000374064:D884E;ENSP00000374067:D896E;ENSP00000374069:D913E;ENSP00000385464:D936E	ENSP00000374064:D884E	D	-	3	2	PTPRN2	157062110	1.000000	0.71417	1.000000	0.80357	0.698000	0.40448	4.368000	0.59505	2.546000	0.85860	0.650000	0.86243	GAC	.		0.632	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1		
MTMR9	66036	broad.mit.edu	37	8	11180146	11180146	+	Missense_Mutation	SNP	G	G	A	rs375789918		TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr8:11180146G>A	ENST00000221086.3	+	10	1972	c.1499G>A	c.(1498-1500)cGt>cAt	p.R500H	AF131216.6_ENST00000498997.2_RNA|MTMR9_ENST00000526292.1_Missense_Mutation_p.R415H	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	500						cytoplasm (GO:0005737)	enzyme regulator activity (GO:0030234)|phosphatase activity (GO:0016791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		ATTTTCCTACGTTGGAATAGA	0.294																																					p.R500H													.	MTMR9-226	0			c.G1499A						.	G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	55.0	60.0	59.0		1499	5.5	1.0	8		59	1,8599	1.2+/-3.3	0,1,4299	no	missense	MTMR9	NM_015458.3	29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	500/550	11180146	2,13004	2203	4300	6503	SO:0001583	missense	66036	exon10			TCCTACGTTGGAA	AJ297823	CCDS5979.1	8p23-p22	2011-06-09	2002-09-05	2002-09-06	ENSG00000104643	ENSG00000104643		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	14596	protein-coding gene	gene with protein product		606260	"""myotubularin related protein 8"""	C8orf9, MTMR8		11472061, 11896452, 12890864	Standard	NM_015458		Approved	DKFZp434K171, LIP-STYX	uc003wtm.3	Q96QG7	OTTHUMG00000090647	ENST00000221086.3:c.1499G>A	8.37:g.11180146G>A	ENSP00000221086:p.Arg500His	Somatic	183	1		WXS	Illumina HiSeq	Phase_I	165	4	NM_015458	0	0	0	0	0	B7Z291|Q52LU3|Q8WW11|Q96QG6|Q9NX50	Missense_Mutation	SNP	ENST00000221086.3	37	CCDS5979.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.478961	0.63849	2.27E-4	1.16E-4	ENSG00000104643	ENST00000221086;ENST00000526292	D;D	0.91843	-2.92;-2.92	5.46	5.46	0.80206	.	0.050859	0.85682	D	0.000000	D	0.93242	0.7847	M	0.81942	2.565	0.80722	D	1	D	0.60575	0.988	P	0.45232	0.474	D	0.94240	0.7484	10	0.72032	D	0.01	.	18.2845	0.90110	0.0:0.0:1.0:0.0	.	500	Q96QG7	MTMR9_HUMAN	H	500;415	ENSP00000221086:R500H;ENSP00000433239:R415H	ENSP00000221086:R500H	R	+	2	0	MTMR9	11217556	1.000000	0.71417	0.983000	0.44433	0.602000	0.36980	9.247000	0.95444	2.562000	0.86427	0.655000	0.94253	CGT	.		0.294	MTMR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207307.2	NM_015458	
DEFB136	613210	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	11831570	11831570	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr8:11831570G>A	ENST00000382209.2	-	2	112	c.113C>T	c.(112-114)gCc>gTc	p.A38V		NM_001033018.2	NP_001028190.2	Q30KP8	DB136_HUMAN	defensin, beta 136	38					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				endometrium(2)|large_intestine(1)|lung(4)	7			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.163)		GAAACATACGGCTTTCTGGCT	0.453																																					p.A38V		.											.	DEFB136-90	0			c.C113T						.						162.0	168.0	166.0					8																	11831570		2014	4183	6197	SO:0001583	missense	613210	exon2			CATACGGCTTTCT	DQ012026	CCDS43709.1	8p23.1	2011-07-19			ENSG00000205884	ENSG00000205884		"""Defensins, beta"""	34433	protein-coding gene	gene with protein product						16033865	Standard	NM_001033018		Approved	DEFB137	uc011kxm.2	Q30KP8	OTTHUMG00000158720	ENST00000382209.2:c.113C>T	8.37:g.11831570G>A	ENSP00000371644:p.Ala38Val	Somatic	172	0		WXS	Illumina HiSeq	Phase_I	182	50	NM_001033018	0	0	0	0	0	Q4QY36	Missense_Mutation	SNP	ENST00000382209.2	37	CCDS43709.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.863779	0.51482	.	.	ENSG00000205884	ENST00000382209	T	0.18960	2.18	4.06	3.18	0.36537	.	0.135690	0.34435	N	0.003978	T	0.17066	0.0410	.	.	.	0.09310	N	1	P	0.35982	0.531	B	0.35353	0.201	T	0.14282	-1.0478	9	0.66056	D	0.02	-1.9327	9.761	0.40532	0.0:0.7758:0.2242:0.0	.	38	Q30KP8	DB136_HUMAN	V	38	ENSP00000371644:A38V	ENSP00000371644:A38V	A	-	2	0	DEFB136	11868979	0.022000	0.18835	0.045000	0.18777	0.001000	0.01503	1.228000	0.32588	1.290000	0.44636	-0.321000	0.08615	GCC	.		0.453	DEFB136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351889.1	NM_001033018	
SCARA3	51435	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	8	27516084	27516084	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr8:27516084C>T	ENST00000301904.3	+	5	417	c.397C>T	c.(397-399)Cag>Tag	p.Q133*	SCARA3_ENST00000337221.4_Nonsense_Mutation_p.Q133*	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	133					receptor-mediated endocytosis (GO:0006898)|response to oxidative stress (GO:0006979)|UV protection (GO:0009650)	collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		CCGAAAACTGCAGGAGGAGCT	0.562																																					p.Q133X		.											.	SCARA3-228	0			c.C397T						.						96.0	103.0	101.0					8																	27516084		2203	4300	6503	SO:0001587	stop_gained	51435	exon5			AAACTGCAGGAGG	AB007829	CCDS34870.1, CCDS34871.1	8p21	2010-03-24			ENSG00000168077	ENSG00000168077			19000	protein-coding gene	gene with protein product	"""macrophage scavenger receptor-like 1"""	602728				9747040, 9580669	Standard	NM_182826		Approved	CSR1, CSR, MSLR1, APC7, MSRL1	uc003xga.1	Q6AZY7	OTTHUMG00000163898	ENST00000301904.3:c.397C>T	8.37:g.27516084C>T	ENSP00000301904:p.Gln133*	Somatic	78	0		WXS	Illumina HiSeq	Phase_I	93	7	NM_182826	0	0	9	9	0	Q9UM15|Q9UM16	Nonsense_Mutation	SNP	ENST00000301904.3	37	CCDS34871.1	.	.	.	.	.	.	.	.	.	.	C	38	7.138755	0.98088	.	.	ENSG00000168077	ENST00000337221;ENST00000301904	.	.	.	6.04	6.04	0.98038	.	0.106561	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-19.8686	18.073	0.89417	0.0:1.0:0.0:0.0	.	.	.	.	X	133	.	ENSP00000301904:Q133X	Q	+	1	0	SCARA3	27572003	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.363000	0.66104	2.873000	0.98535	0.561000	0.74099	CAG	.		0.562	SCARA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376258.2	NM_016240	
KCNU1	157855	broad.mit.edu	37	8	36703123	36703123	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr8:36703123C>A	ENST00000399881.3	+	17	1766	c.1729C>A	c.(1729-1731)Caa>Aaa	p.Q577K		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	577					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TCCACCTCCACAAGTGAGGAT	0.383																																					p.Q577K													.	KCNU1-23	0			c.C1729A						.						120.0	113.0	115.0					8																	36703123		1854	4107	5961	SO:0001583	missense	157855	exon17			CCTCCACAAGTGA	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.1729C>A	8.37:g.36703123C>A	ENSP00000382770:p.Gln577Lys	Somatic	82	1		WXS	Illumina HiSeq	Phase_I	104	3	NM_001031836	0	0	0	0	0		Missense_Mutation	SNP	ENST00000399881.3	37	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	C	5.188	0.220288	0.09863	.	.	ENSG00000215262	ENST00000399881	T	0.29142	1.58	5.53	2.5	0.30297	.	0.000000	0.36519	U	0.002552	T	0.21145	0.0509	L	0.47716	1.5	0.80722	D	1	B	0.21381	0.055	B	0.18561	0.022	T	0.05666	-1.0871	10	0.22109	T	0.4	-5.5205	4.9734	0.14127	0.2651:0.5326:0.1288:0.0736	.	577	A8MYU2	KCNU1_HUMAN	K	577	ENSP00000382770:Q577K	ENSP00000382770:Q577K	Q	+	1	0	KCNU1	36822281	0.196000	0.23350	0.914000	0.36105	0.096000	0.18686	0.582000	0.23834	0.760000	0.33108	0.655000	0.94253	CAA	.		0.383	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836	
HNF4G	3174	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	76463728	76463728	+	Splice_Site	SNP	A	A	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr8:76463728A>G	ENST00000354370.1	+	5	617	c.347A>G	c.(346-348)cAg>cGg	p.Q116R	HNF4G_ENST00000396423.2_Splice_Site_p.Q153R			Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	116					endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			CGGTCTCGCCAGGTACCTGTG	0.423																																					p.Q153R		.											.	HNF4G-187	0			c.A458G						.						114.0	86.0	96.0					8																	76463728		2203	4300	6503	SO:0001630	splice_region_variant	3174	exon4			CTCGCCAGGTACC		CCDS6220.2	8q21-q22	2013-01-16			ENSG00000164749	ENSG00000164749		"""Nuclear hormone receptors"""	5026	protein-coding gene	gene with protein product		605966				8622695, 12220494	Standard	NM_004133		Approved	NR2A2	uc003yar.3	Q14541	OTTHUMG00000149920	ENST00000354370.1:c.348+1A>G	8.37:g.76463728A>G		Somatic	65	0		WXS	Illumina HiSeq	Phase_I	67	10	NM_004133	0	0	0	0	0	Q7Z2V9|Q9UH81|Q9UIS6	Missense_Mutation	SNP	ENST00000354370.1	37		.	.	.	.	.	.	.	.	.	.	A	19.16	3.774742	0.70107	.	.	ENSG00000164749	ENST00000354370;ENST00000396423	D;D	0.94687	-3.49;-3.49	5.07	5.07	0.68467	Nuclear hormone receptor, ligand-binding (2);	0.485181	0.25587	N	0.029651	D	0.94853	0.8337	M	0.79258	2.445	0.80722	D	1	B;B	0.29571	0.249;0.249	B;B	0.38106	0.191;0.265	D	0.93931	0.7214	10	0.41790	T	0.15	.	15.1246	0.72472	1.0:0.0:0.0:0.0	.	153;116	F1D8Q4;Q14541	.;HNF4G_HUMAN	R	116;153	ENSP00000346339:Q116R;ENSP00000379701:Q153R	ENSP00000346339:Q116R	Q	+	2	0	HNF4G	76626283	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.152000	0.94680	2.026000	0.59711	0.528000	0.53228	CAG	.		0.423	HNF4G-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000313914.2	NM_004133	Missense_Mutation
CA1	759	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	8	86250502	86250502	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr8:86250502C>T	ENST00000523953.1	-	4	1260	c.214G>A	c.(214-216)Gag>Aag	p.E72K	CA1_ENST00000256119.5_Missense_Mutation_p.E72K|CA1_ENST00000431316.1_Missense_Mutation_p.E72K|CA1_ENST00000518341.1_5'UTR|CA1_ENST00000522389.1_Intron|CA1_ENST00000542576.1_Missense_Mutation_p.E72K|CA1_ENST00000432364.2_Missense_Mutation_p.E72K|CA1_ENST00000523022.1_Missense_Mutation_p.E72K			P00915	CAH1_HUMAN	carbonic anhydrase I	72					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methocarbamol(DB00423)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	TCGTTGTCCTCAAAATTTACA	0.388																																					p.E72K		.											.	CA1-91	0			c.G214A						.						222.0	221.0	222.0					8																	86250502		2203	4300	6503	SO:0001583	missense	759	exon2			TGTCCTCAAAATT	M33987	CCDS6237.1	8q21.2	2006-03-10				ENSG00000133742	4.2.1.1	"""Carbonic anhydrases"""	1368	protein-coding gene	gene with protein product		114800				1916821	Standard	NM_001164830		Approved	Car1	uc003ydi.3	P00915		ENST00000523953.1:c.214G>A	8.37:g.86250502C>T	ENSP00000430656:p.Glu72Lys	Somatic	120	0		WXS	Illumina HiSeq	Phase_I	100	8	NM_001164830	0	0	0	0	0		Missense_Mutation	SNP	ENST00000523953.1	37	CCDS6237.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.641247	0.47153	.	.	ENSG00000133742	ENST00000523953;ENST00000256119;ENST00000431316;ENST00000542576;ENST00000432364;ENST00000523022;ENST00000517618;ENST00000517590;ENST00000521846;ENST00000522579;ENST00000522814;ENST00000522662;ENST00000523858	T;T;T;T;T;T;T;T;T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3	5.53	3.74	0.42951	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.620194	0.17999	N	0.154974	T	0.60011	0.2236	L	0.42632	1.34	0.37858	D	0.929602	P	0.45715	0.865	B	0.42692	0.395	T	0.63323	-0.6663	10	0.59425	D	0.04	-2.5698	10.6538	0.45663	0.0:0.8437:0.0:0.1563	.	72	P00915	CAH1_HUMAN	K	72	ENSP00000430656:E72K;ENSP00000256119:E72K;ENSP00000392338:E72K;ENSP00000443517:E72K;ENSP00000401551:E72K;ENSP00000429798:E72K;ENSP00000430861:E72K;ENSP00000429843:E72K;ENSP00000430471:E72K;ENSP00000427852:E72K;ENSP00000430737:E72K;ENSP00000430372:E72K;ENSP00000430975:E72K	ENSP00000256119:E72K	E	-	1	0	CA1	86437754	0.998000	0.40836	0.108000	0.21378	0.434000	0.31775	2.575000	0.46025	0.706000	0.31912	0.591000	0.81541	GAG	.		0.388	CA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381067.1	NM_001738	
RGS22	26166	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	101076121	101076121	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr8:101076121C>G	ENST00000360863.6	-	8	1069	c.875G>C	c.(874-876)aGa>aCa	p.R292T	RGS22_ENST00000523437.1_Missense_Mutation_p.R280T|RGS22_ENST00000523287.1_Missense_Mutation_p.R111T	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	292					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AAGGTATACTCTCAGAAGAGC	0.343																																					p.R292T		.											.	RGS22-140	0			c.G875C						.						79.0	79.0	79.0					8																	101076121		1823	4073	5896	SO:0001583	missense	26166	exon8			TATACTCTCAGAA	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.875G>C	8.37:g.101076121C>G	ENSP00000354109:p.Arg292Thr	Somatic	64	0		WXS	Illumina HiSeq	Phase_I	62	7	NM_015668	0	0	0	0	0	A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	ENST00000360863.6	37	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.240381	0.58995	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437	T;T;T	0.32988	1.44;1.43;1.44	5.86	4.98	0.66077	.	0.202669	0.37809	N	0.001934	T	0.25531	0.0621	M	0.64997	1.995	0.25094	N	0.990833	P;P;P	0.38597	0.506;0.506;0.639	B;B;B	0.30029	0.051;0.051;0.11	T	0.41215	-0.9521	10	0.66056	D	0.02	.	7.6392	0.28284	0.1248:0.6867:0.1208:0.0677	.	280;292;111	A8K944;Q8NE09;G3V112	.;RGS22_HUMAN;.	T	292;280;111;280	ENSP00000354109:R292T;ENSP00000429382:R111T;ENSP00000428212:R280T	ENSP00000354109:R292T	R	-	2	0	RGS22	101145297	0.590000	0.26815	0.978000	0.43139	0.698000	0.40448	1.435000	0.34969	2.937000	0.99478	0.650000	0.86243	AGA	.		0.343	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668	
ZNF572	137209	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	125988719	125988719	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr8:125988719A>C	ENST00000319286.5	+	3	363	c.209A>C	c.(208-210)gAa>gCa	p.E70A		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	70					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)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			GATGCAAAAGAAATGCCACTG	0.378										HNSCC(60;0.17)																											p.E70A		.											.	ZNF572-154	0			c.A209C						.						91.0	89.0	90.0					8																	125988719		2203	4300	6503	SO:0001583	missense	137209	exon3			CAAAAGAAATGCC	BX537876	CCDS6354.1	8q24.13	2013-09-20			ENSG00000180938	ENSG00000180938		"""Zinc fingers, C2H2-type"""	26758	protein-coding gene	gene with protein product							Standard	NM_152412		Approved	FLJ38002	uc003yrr.3	Q7Z3I7	OTTHUMG00000164988	ENST00000319286.5:c.209A>C	8.37:g.125988719A>C	ENSP00000319305:p.Glu70Ala	Somatic	68	0		WXS	Illumina HiSeq	Phase_I	54	13	NM_152412	0	0	0	0	0	A1L4F1|Q8N1Q0	Missense_Mutation	SNP	ENST00000319286.5	37	CCDS6354.1	.	.	.	.	.	.	.	.	.	.	A	9.984	1.229005	0.22542	.	.	ENSG00000180938	ENST00000319286	T	0.08634	3.07	4.06	2.92	0.33932	.	0.160607	0.29293	N	0.012574	T	0.05273	0.0140	N	0.24115	0.695	0.09310	N	0.999998	B	0.27823	0.19	B	0.27608	0.081	T	0.36456	-0.9747	10	0.27082	T	0.32	-9.0575	7.4137	0.27032	0.8925:0.0:0.1075:0.0	.	70	Q7Z3I7	ZN572_HUMAN	A	70	ENSP00000319305:E70A	ENSP00000319305:E70A	E	+	2	0	ZNF572	126057900	0.024000	0.19004	0.541000	0.28102	0.914000	0.54420	0.846000	0.27682	1.841000	0.53522	0.459000	0.35465	GAA	.		0.378	ZNF572-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381359.1	NM_152412	
ZNF251	90987	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	8	145947050	145947050	+	Silent	SNP	A	A	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr8:145947050A>T	ENST00000292562.7	-	5	2270	c.1995T>A	c.(1993-1995)atT>atA	p.I665I	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	665					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		TTTCTTGGAAAATCTTCTTGA	0.358																																					p.I665I		.											.	ZNF251-68	0			c.T1995A						.						44.0	44.0	44.0					8																	145947050		1901	4119	6020	SO:0001819	synonymous_variant	90987	exon5			TTGGAAAATCTTC	AK000435	CCDS47944.1	8q24.3	2013-01-08			ENSG00000198169	ENSG00000198169		"""Zinc fingers, C2H2-type"", ""-"""	13045	protein-coding gene	gene with protein product							Standard	NM_138367		Approved		uc003zdv.4	Q9BRH9	OTTHUMG00000165189	ENST00000292562.7:c.1995T>A	8.37:g.145947050A>T		Somatic	96	0		WXS	Illumina HiSeq	Phase_I	90	28	NM_138367	0	0	1	1	0	Q2M219	Silent	SNP	ENST00000292562.7	37	CCDS47944.1																																																																																			.		0.358	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382541.1	NM_138367	
TLN1	7094	broad.mit.edu	37	9	35704480	35704480	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr9:35704480C>T	ENST00000314888.9	-	45	6249	c.5896G>A	c.(5896-5898)Gct>Act	p.A1966T	TLN1_ENST00000540444.1_Missense_Mutation_p.A1860T|TLN1_ENST00000464379.1_5'UTR	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1966				A -> R (in Ref. 1; AAD13152). {ECO:0000305}.	activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGGAGCGCAGCCAGGACGTGG	0.582																																					p.A1966T													.	TLN1-609	0			c.G5896A						.						59.0	54.0	56.0					9																	35704480		2203	4300	6503	SO:0001583	missense	7094	exon45			GCGCAGCCAGGAC	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.5896G>A	9.37:g.35704480C>T	ENSP00000316029:p.Ala1966Thr	Somatic	120	1		WXS	Illumina HiSeq	Phase_I	145	5	NM_006289	0	0	103	112	9	A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196475	0.79015	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.36520	1.25;1.25	4.87	4.87	0.63330	Vinculin-binding site-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.57621	0.2066	M	0.76170	2.325	0.80722	D	1	D	0.63046	0.992	D	0.67900	0.954	T	0.61559	-0.7038	10	0.62326	D	0.03	-7.2257	13.0408	0.58897	0.161:0.839:0.0:0.0	.	1966	Q9Y490	TLN1_HUMAN	T	1966;1860	ENSP00000316029:A1966T;ENSP00000442981:A1860T	ENSP00000316029:A1966T	A	-	1	0	TLN1	35694480	1.000000	0.71417	0.996000	0.52242	0.874000	0.50279	2.532000	0.45659	2.250000	0.74265	0.462000	0.41574	GCT	.		0.582	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289	
BAAT	570	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	104125253	104125253	+	Silent	SNP	T	T	C			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr9:104125253T>C	ENST00000395051.3	-	3	784	c.714A>G	c.(712-714)gtA>gtG	p.V238V	BAAT_ENST00000259407.2_Silent_p.V238V			Q14032	BAAT_HUMAN	bile acid CoA:amino acid N-acyltransferase	238					acyl-CoA metabolic process (GO:0006637)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid conjugation (GO:0002152)|bile acid metabolic process (GO:0008206)|fatty acid metabolic process (GO:0006631)|glycine metabolic process (GO:0006544)|liver development (GO:0001889)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|taurine metabolic process (GO:0019530)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carboxylic ester hydrolase activity (GO:0052689)|glycine N-choloyltransferase activity (GO:0047963)|long-chain acyl-CoA hydrolase activity (GO:0052816)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|N-acyltransferase activity (GO:0016410)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|very long chain acyl-CoA hydrolase activity (GO:0052817)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	GTCCAATCTGTACTCCTTGAC	0.393																																					p.V238V		.											.	BAAT-228	0			c.A714G						.						90.0	91.0	91.0					9																	104125253		2202	4300	6502	SO:0001819	synonymous_variant	570	exon4			AATCTGTACTCCT	L34081	CCDS6752.1	9q22.3	2014-06-24	2014-06-24		ENSG00000136881	ENSG00000136881	2.3.1.65		932	protein-coding gene	gene with protein product	"""glycine N-choloyltransferase"""	602938	"""bile acid Coenzyme A:amino acid N-acyltransferase (glycine N-choloyltransferase)"", ""bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)"""				Standard	NM_001701		Approved	BAT	uc010mtd.3	Q14032	OTTHUMG00000020377	ENST00000395051.3:c.714A>G	9.37:g.104125253T>C		Somatic	62	0		WXS	Illumina HiSeq	Phase_I	59	16	NM_001127610	0	0	0	0	0	Q3B7W9|Q96L31	Silent	SNP	ENST00000395051.3	37	CCDS6752.1																																																																																			.		0.393	BAAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053433.1		
GPR107	57720	broad.mit.edu;bcgsc.ca	37	9	132845879	132845879	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr9:132845879A>G	ENST00000372406.1	+	6	1069	c.562A>G	c.(562-564)Aag>Gag	p.K188E	GPR107_ENST00000372410.3_Missense_Mutation_p.K188E|GPR107_ENST00000347136.6_Missense_Mutation_p.K188E	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	188						integral component of membrane (GO:0016021)				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				AGTGGATTCAAAGGTAAGAAC	0.348																																					p.K188E													.	GPR107-91	0			c.A562G						.						196.0	174.0	181.0					9																	132845879		2203	4300	6503	SO:0001583	missense	57720	exon6			GATTCAAAGGTAA	AF376725	CCDS35162.1, CCDS48041.1, CCDS48042.1	9q34.2	2014-01-30			ENSG00000148358	ENSG00000148358		"""GPCR / Unclassified : 7TM orphan receptors"""	17830	protein-coding gene	gene with protein product							Standard	NM_020960		Approved	KIAA1624, RP11-88G17, FLJ20998, LUSTR1	uc004bzd.2	Q5VW38	OTTHUMG00000020804	ENST00000372406.1:c.562A>G	9.37:g.132845879A>G	ENSP00000361483:p.Lys188Glu	Somatic	243	0		WXS	Illumina HiSeq	Phase_I	223	11	NM_001136557	0	0	0	0	0	A6NJ53|Q2TB81|Q5JPA3|Q5VW39|Q96T26|Q9H658|Q9HCE8	Missense_Mutation	SNP	ENST00000372406.1	37	CCDS48041.1	.	.	.	.	.	.	.	.	.	.	A	15.42	2.828233	0.50845	.	.	ENSG00000148358	ENST00000372406;ENST00000347136;ENST00000372410;ENST00000455412	T;T;T	0.22336	1.96;1.97;1.96	5.63	4.42	0.53409	.	0.148254	0.46758	D	0.000276	T	0.14874	0.0359	L	0.42245	1.32	0.32954	D	0.520166	P;P;P	0.40083	0.702;0.696;0.57	B;B;B	0.37650	0.255;0.214;0.255	T	0.05533	-1.0879	10	0.08837	T	0.75	-12.6956	9.084	0.36570	0.8151:0.1849:0.0:0.0	.	188;188;188	G5E994;Q5VW38;Q5VW38-2	.;GP107_HUMAN;.	E	188	ENSP00000361483:K188E;ENSP00000336988:K188E;ENSP00000361487:K188E	ENSP00000336988:K188E	K	+	1	0	GPR107	131885700	0.952000	0.32445	1.000000	0.80357	0.980000	0.70556	0.795000	0.26972	2.145000	0.66743	0.533000	0.62120	AAG	.		0.348	GPR107-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054643.2		
ARR3	407	bcgsc.ca	37	X	69502407	69502407	+	IGR	SNP	G	G	T	rs375268434		TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chrX:69502407G>T	ENST00000307959.8	+	0	1292				RAB41_ENST00000276066.4_Missense_Mutation_p.R49L|RAB41_ENST00000374473.2_Missense_Mutation_p.R50L	NM_004312.2	NP_004303.2	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)						endocytosis (GO:0006897)|regulation of protein phosphorylation (GO:0001932)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						ATCATCAGCCGCTTCATGTAC	0.537																																					p.R49L													.	RAB41-229	0			c.G146T						.						100.0	71.0	81.0					X																	69502407		2203	4300	6503	SO:0001628	intergenic_variant	347517	exon2			TCAGCCGCTTCAT		CCDS14399.1	Xq13.1	2013-10-11			ENSG00000120500	ENSG00000120500			710	protein-coding gene	gene with protein product	"""arrestin 4"""	301770				8224247	Standard	NM_004312		Approved	ARRX	uc004dyb.2	P36575	OTTHUMG00000021768		X.37:g.69502407G>T		Somatic	196	3		WXS	Illumina HiSeq	Phase_1	186	94	NM_001032726	0	0	0	0	0	B5B0B9|Q5JT23|Q5JT24|Q6IBF5|Q96EN2	Missense_Mutation	SNP	ENST00000307959.8	37	CCDS14399.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.328288	0.60743	.	.	ENSG00000147127	ENST00000374473;ENST00000276066	D;D	0.82081	-1.57;-1.57	4.51	-5.54	0.02544	Small GTP-binding protein domain (1);	0.000000	0.49916	U	0.000122	D	0.89928	0.6857	H	0.94542	3.55	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	T	0.82297	-0.0527	10	0.87932	D	0	.	5.8878	0.18892	0.4471:0.2274:0.3255:0.0	.	49;50	Q5JT25-2;Q5JT25	.;RAB41_HUMAN	L	50;49	ENSP00000363597:R50L;ENSP00000276066:R49L	ENSP00000276066:R49L	R	+	2	0	RAB41	69419132	0.608000	0.26966	0.000000	0.03702	0.006000	0.05464	0.836000	0.27545	-1.214000	0.02614	-0.380000	0.06706	CGC	.		0.537	ARR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057055.2	NM_004312	
IRS4	8471	ucsc.edu	37	X	107977151	107977151	+	Silent	SNP	G	G	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chrX:107977151G>A	ENST00000372129.2	-	1	2500	c.2424C>T	c.(2422-2424)taC>taT	p.Y808Y	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000436013.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	808					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GTAGAGAGAAGTAGGAGCTCC	0.502																																					p.Y808Y													.	IRS4-623	0			c.C2424T						.						136.0	144.0	141.0					X																	107977151		2203	4300	6503	SO:0001819	synonymous_variant	8471	exon1			AGAGAAGTAGGAG	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.2424C>T	X.37:g.107977151G>A		Somatic	48	0		WXS	Illumina HiSeq		33	4	NM_003604	0	0	0	0	0		Silent	SNP	ENST00000372129.2	37	CCDS14544.1																																																																																			.		0.502	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604	
WLS	79971	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	68697907	68697910	+	Frame_Shift_Del	DEL	TTTG	TTTG	-			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	TTTG	TTTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr1:68697907_68697910delTTTG	ENST00000262348.4	-	1	326_329	c.73_76delCAAA	c.(73-78)caaatcfs	p.QI25fs	WLS_ENST00000540432.1_Frame_Shift_Del_p.QI25fs|WLS_ENST00000354777.2_Frame_Shift_Del_p.QI25fs|WLS_ENST00000370971.1_Frame_Shift_Del_p.QI25fs|WLS_ENST00000370976.3_Frame_Shift_Del_p.QI25fs	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	25					anterior/posterior axis specification (GO:0009948)|mesoderm formation (GO:0001707)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						AAGGCGATGATTTGGAACACGAGC	0.505																																					p.25_26del		.											.	WLS-90	0			c.73_76del						.																																			SO:0001589	frameshift_variant	79971	exon1			.	BX538320	CCDS642.1, CCDS30750.1, CCDS53331.1	1p31.2	2013-10-03	2013-10-03	2010-03-02	ENSG00000116729	ENSG00000116729			30238	protein-coding gene	gene with protein product	"""wntless homolog"""	611514	"""chromosome 1 open reading frame 139"", ""G protein-coupled receptor 177"", ""wntless homolog (Drosophila)"""	C1orf139, GPR177		12761501	Standard	NM_024911		Approved	FLJ23091, MRP, wls, EVI, mig-14	uc001dee.3	Q5T9L3	OTTHUMG00000009153	ENST00000262348.4:c.73_76delCAAA	1.37:g.68697907_68697910delTTTG	ENSP00000262348:p.Gln25fs	Somatic	135	0		WXS	Illumina HiSeq	Phase_I	131	34	NM_001002292	0	0	0	0	0	B2RNT2|Q5JRS7|Q7Z2Z9|Q8NC43	Frame_Shift_Del	DEL	ENST00000262348.4	37	CCDS642.1																																																																																			.		0.505	WLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025368.1	NM_024911	
MKI67	4288	broad.mit.edu	37	10	129902204	129902205	+	Frame_Shift_Del	DEL	TG	TG	-	rs143354291		TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr10:129902204_129902205delTG	ENST00000368654.3	-	13	8274_8275	c.7899_7900delCA	c.(7897-7902)cacaaafs	p.HK2633fs	MKI67_ENST00000368653.3_Frame_Shift_Del_p.HK2273fs	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2633	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GCTGGTTCTTTGTGTGTGTGTG	0.5																																					p.2633_2634del													.	MKI67-519	0			c.7899_7900del						.																																			SO:0001589	frameshift_variant	4288	exon13			GTTCTTTGTGTGT	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.7899_7900delCA	10.37:g.129902214_129902215delTG	ENSP00000357643:p.His2633fs	Somatic	121	0		WXS	Illumina HiSeq	Phase_I	183	7	NM_002417	0	0	0	0	0	Q5VWH2	Frame_Shift_Del	DEL	ENST00000368654.3	37	CCDS7659.1																																																																																			.		0.500	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417	
EXPH5	23086	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	11	108381937	108381941	+	Frame_Shift_Del	DEL	CTTCT	CTTCT	-			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	CTTCT	CTTCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr11:108381937_108381941delCTTCT	ENST00000265843.4	-	6	4403_4407	c.4293_4297delAGAAG	c.(4291-4299)tcagaagttfs	p.EV1432fs	EXPH5_ENST00000525344.1_Frame_Shift_Del_p.EV1425fs|EXPH5_ENST00000443411.1_Frame_Shift_Del_p.EV1244fs|EXPH5_ENST00000428840.1_Frame_Shift_Del_p.EV1356fs|EXPH5_ENST00000524840.1_5'Flank	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1432					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CCAATATTAACTTCTGAAAGAGCTG	0.395																																					p.1431_1433del		.											.	EXPH5-95	0			c.4293_4297del						.																																			SO:0001589	frameshift_variant	23086	exon6			.		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.4293_4297delAGAAG	11.37:g.108381937_108381941delCTTCT	ENSP00000265843:p.Glu1432fs	Somatic	146	0		WXS	Illumina HiSeq	Phase_I	123	26	NM_015065	0	0	0	0	0	Q2KHM1|Q9Y4D6	Frame_Shift_Del	DEL	ENST00000265843.4	37	CCDS8341.1																																																																																			.		0.395	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065	
USP5	8078	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	12	6974373	6974374	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr12:6974373_6974374delTG	ENST00000229268.8	+	19	2496_2497	c.2444_2445delTG	c.(2443-2445)atgfs	p.M815fs	USP5_ENST00000389231.5_Frame_Shift_Del_p.M792fs|TPI1_ENST00000488464.2_5'Flank|TPI1_ENST00000396705.5_5'Flank|TPI1_ENST00000535434.1_5'Flank|TPI1_ENST00000229270.4_5'Flank	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	815	USP.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin thiolesterase activity (GO:0004221)|zinc ion binding (GO:0008270)			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						ACCTCTACCATGTGTGGTCACT	0.5																																					p.815_815del		.											.	USP5-659	0			c.2444_2445del						.																																			SO:0001589	frameshift_variant	8078	exon19			.	U35116	CCDS31733.1, CCDS41743.1	12p13	2007-03-02	2005-08-08		ENSG00000111667	ENSG00000111667		"""Ubiquitin-specific peptidases"""	12628	protein-coding gene	gene with protein product		601447	"""ubiquitin specific protease 5 (isopeptidase T)"""			12838346, 8723724	Standard	NM_003481		Approved	IsoT	uc001qri.4	P45974	OTTHUMG00000169233	ENST00000229268.8:c.2444_2445delTG	12.37:g.6974377_6974378delTG	ENSP00000229268:p.Met815fs	Somatic	171	0		WXS	Illumina HiSeq	Phase_I	182	32	NM_001098536	0	0	0	0	0	D3DUS7|D3DUS8|Q96J22	Frame_Shift_Del	DEL	ENST00000229268.8	37	CCDS41743.1																																																																																			.		0.500	USP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402982.1		
CLK3	1198	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	15	74912367	74912371	+	Frame_Shift_Del	DEL	ACCAG	ACCAG	-	rs373663118|rs371419854		TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	ACCAG	ACCAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr15:74912367_74912371delACCAG	ENST00000395066.3	+	3	1075_1079	c.614_618delACCAG	c.(613-618)taccagfs	p.YQ205fs	CLK3_ENST00000348245.3_Frame_Shift_Del_p.YQ57fs|CLK3_ENST00000345005.4_Frame_Shift_Del_p.YQ57fs|CLK3_ENST00000352989.5_Frame_Shift_Del_p.YQ57fs	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	205	Arg-rich.				protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	cytoplasmic vesicle (GO:0031410)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						CGCCTGCCCTACCAGAGGAGGTACC	0.58																																					p.205_206del	Ovarian(133;694 1754 28950 29027 31859)	.											.	CLK3-358	0			c.614_618del						.																																			SO:0001589	frameshift_variant	1198	exon3			.	L29220	CCDS10265.1, CCDS45304.1	15q24	2008-05-02			ENSG00000179335	ENSG00000179335		"""CDC-like kinases"""	2071	protein-coding gene	gene with protein product		602990				7990150, 9856501	Standard	NM_003992		Approved	clk3	uc010uln.2	P49761	OTTHUMG00000141320	ENST00000395066.3:c.614_618delACCAG	15.37:g.74912367_74912371delACCAG	ENSP00000378505:p.Tyr205fs	Somatic	155	0		WXS	Illumina HiSeq	Phase_I	176	41	NM_001130028	0	0	0	0	0	D3DW59|Q53Y48|Q9BRS3|Q9BUJ7	Frame_Shift_Del	DEL	ENST00000395066.3	37	CCDS45304.1																																																																																			.		0.580	CLK3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390442.3		
NPIPB5	100132247	broad.mit.edu	37	16	22545744	22545755	+	In_Frame_Del	DEL	TCCACCCTCAGC	TCCACCCTCAGC	-	rs373344256		TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	TCCACCCTCAGC	TCCACCCTCAGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr16:22545744_22545755delTCCACCCTCAGC	ENST00000517539.1	+	8	1515_1526	c.1440_1451delTCCACCCTCAGC	c.(1438-1452)cttccaccctcagct>ctt	p.PPSA485del	NPIPB5_ENST00000424340.1_In_Frame_Del_p.PPSA485del|NPIPB5_ENST00000415654.1_3'UTR			A8MRT5	NPIB5_HUMAN	nuclear pore complex interacting protein family, member B5	485	Pro-rich.					integral component of membrane (GO:0016021)											TCACTCCCCTTCCACCCTCAGCTCCACCCTCA	0.571																																					p.480_484del													.	.	0			c.1440_1451del						.			15,1619		1,13,803							0.0			1	14,2538		3,8,1265	no	coding	LOC100132247	NM_001135865.1		4,21,2068	A1A1,A1R,RR		0.5486,0.918,0.6928				29,4157				SO:0001651	inframe_deletion	0	exon7			TCCCCTTCCACCC		CCDS45443.1	16p12.2	2013-06-11			ENSG00000243716	ENSG00000243716			37233	protein-coding gene	gene with protein product							Standard	NM_001135865		Approved			A8MRT5	OTTHUMG00000163573	ENST00000517539.1:c.1440_1451delTCCACCCTCAGC	16.37:g.22545744_22545755delTCCACCCTCAGC	ENSP00000430633:p.Pro485_Ala488del	Somatic	39	0		WXS	Illumina HiSeq	Phase_I	74	20	NM_001135865	0	0	0	0	0	B4DK13	In_Frame_Del	DEL	ENST00000517539.1	37	CCDS45443.1																																																																																			.		0.571	NPIPB5-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374343.2	NM_001135865	
ZNF101	94039	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	19790040	19790040	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr19:19790040delA	ENST00000592502.1	+	4	352	c.242delA	c.(241-243)gaafs	p.E81fs	ZNF101_ENST00000444249.2_3'UTR|ZNF101_ENST00000415784.2_5'UTR			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	81	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						GAACACAGAGAAACTTTCAGC	0.413																																					p.E81fs		.											.	ZNF101-92	0			c.242delA						.						88.0	82.0	84.0					19																	19790040		2203	4300	6503	SO:0001589	frameshift_variant	94039	exon4			.	AK097169	CCDS32971.1	19p13.11	2013-01-08	2004-02-10		ENSG00000181896	ENSG00000181896		"""Zinc fingers, C2H2-type"", ""-"""	12881	protein-coding gene	gene with protein product		603983	"""zinc finger protein 101 (Y2)"""			11441184	Standard	XM_005260165		Approved	HZF12, DKFZp570I0164	uc002nni.2	Q8IZC7	OTTHUMG00000167736	ENST00000592502.1:c.242delA	19.37:g.19790040delA	ENSP00000468049:p.Glu81fs	Somatic	136	0		WXS	Illumina HiSeq	Phase_I	150	39	NM_033204	0	0	0	0	0	C9JU83|Q0VDG9	Frame_Shift_Del	DEL	ENST00000592502.1	37	CCDS32971.1																																																																																			.		0.413	ZNF101-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460559.1	NM_033204	
GIGYF2	26058	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	233676027	233676029	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	CTT	CTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr2:233676027_233676029delCTT	ENST00000409547.1	+	19	2283_2285	c.1972_1974delCTT	c.(1972-1974)cttdel	p.L660del	GIGYF2_ENST00000452341.2_In_Frame_Del_p.L491del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.L682del|GIGYF2_ENST00000373566.3_In_Frame_Del_p.L682del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.L660del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.L654del|GIGYF2_ENST00000409451.3_In_Frame_Del_p.L681del	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	660	Gln-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GCAGTTGGCACTTCTTCTTCAAC	0.414																																					p.679_679del		.											.	GIGYF2-28	0			c.2035_2037del						.																																			SO:0001651	inframe_deletion	26058	exon19			.	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.1972_1974delCTT	2.37:g.233676033_233676035delCTT	ENSP00000386537:p.Leu660del	Somatic	156	0		WXS	Illumina HiSeq	Phase_I	167	47	NM_001103147	0	0	0	0	0	A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	In_Frame_Del	DEL	ENST00000409547.1	37	CCDS33401.1																																																																																			.		0.414	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146	
PPP3CA	5530	broad.mit.edu;bcgsc.ca	37	4	102030234	102030236	+	Splice_Site	DEL	AAC	AAC	-			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	AAC	AAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr4:102030234_102030236delAAC	ENST00000394854.3	-	3	943_944	c.260_261delGTT	c.(259-261)ggt>g	p.G87del	PPP3CA_ENST00000507176.1_5'UTR|PPP3CA_ENST00000394853.4_Splice_Site_p.G87del|PPP3CA_ENST00000323055.6_Splice_Site_p.G87del|PPP3CA_ENST00000512215.1_Intron|PPP3CA_ENST00000510292.1_5'UTR|PPP3CA_ENST00000523694.2_Splice_Site_p.G20del	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	87	Catalytic.				calcineurin-NFAT signaling cascade (GO:0033173)|calcium ion transport (GO:0006816)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|multicellular organismal response to stress (GO:0033555)|negative regulation of insulin secretion (GO:0046676)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|protein import into nucleus (GO:0006606)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic transmission (GO:0050804)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|skeletal muscle fiber development (GO:0048741)|T cell activation (GO:0042110)|transition between fast and slow fiber (GO:0014883)	calcineurin complex (GO:0005955)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		TGTCCCCACAAACTGAAAGAAAC	0.33																																					p.87_87del													.	PPP3CA-227	0			c.260_261del						.																																			SO:0001630	splice_region_variant	5530	exon3			CCCACAAACTGAA		CCDS34037.1, CCDS47113.1, CCDS47114.1	4q24	2010-03-17	2010-03-05		ENSG00000138814	ENSG00000138814	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9314	protein-coding gene	gene with protein product	"""calcineurin A alpha"", ""protein phosphatase 2B, catalytic subunit, alpha isoform"""	114105	"""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform (calcineurin A alpha)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform"""	CALN, CALNA		2848250, 1659808	Standard	NM_000944		Approved	CNA1, PPP2B	uc011cen.1	Q08209	OTTHUMG00000133839	ENST00000394854.3:c.260-1GTT>-	4.37:g.102030234_102030236delAAC		Somatic	57	0		WXS	Illumina HiSeq	Phase_I	52	9	NM_000944	0	0	0	0	0	A1A441|A8K3B7|A8W6Z7|A8W6Z8|B5BUA2|Q8TAW9	Frame_Shift_Del	DEL	ENST00000394854.3	37	CCDS34037.1																																																																																			.		0.330	PPP3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258379.2	NM_000944	In_Frame_Del
HSPA4L	22824	broad.mit.edu;bcgsc.ca	37	4	128726257	128726266	+	Frame_Shift_Del	DEL	GAAATTGTAG	GAAATTGTAG	-			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	GAAATTGTAG	GAAATTGTAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr4:128726257_128726266delGAAATTGTAG	ENST00000296464.4	+	9	1426_1435	c.1015_1024delGAAATTGTAG	c.(1015-1026)gaaattgtaggafs	p.EIVG339fs	HSPA4L_ENST00000505726.1_Frame_Shift_Del_p.EIVG313fs|HSPA4L_ENST00000439123.2_Frame_Shift_Del_p.EIVG370fs|HSPA4L_ENST00000508776.1_Frame_Shift_Del_p.EIVG339fs	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	339					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						TAGTAGTATAGAAATTGTAGGAGGAGCAAC	0.333																																					p.339_342del													.	HSPA4L-228	0			c.1015_1024del						.																																			SO:0001589	frameshift_variant	22824	exon9			AGTATAGAAATTG	AB023421	CCDS3734.1	4q28	2011-09-07			ENSG00000164070	ENSG00000164070		"""Heat shock proteins / HSP70"""	17041	protein-coding gene	gene with protein product						10524232	Standard	NM_014278		Approved	APG-1, Osp94, HSPH3	uc003ifm.3	O95757	OTTHUMG00000133302	ENST00000296464.4:c.1015_1024delGAAATTGTAG	4.37:g.128726257_128726266delGAAATTGTAG	ENSP00000296464:p.Glu339fs	Somatic	164	0		WXS	Illumina HiSeq	Phase_I	134	16	NM_014278	0	0	0	0	0	A2ICT2|Q4W5M5|Q8IWA2	Frame_Shift_Del	DEL	ENST00000296464.4	37	CCDS3734.1																																																																																			.		0.333	HSPA4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257096.3	NM_014278	
NIPBL	25836	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	37017244	37017247	+	Frame_Shift_Del	DEL	ATAG	ATAG	-			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	ATAG	ATAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr5:37017244_37017247delATAG	ENST00000282516.8	+	24	5399_5402	c.4900_4903delATAG	c.(4900-4905)atagaafs	p.IE1634fs	NIPBL_ENST00000448238.2_Frame_Shift_Del_p.IE1634fs	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1634					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.E1635K(2)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TCAAGGATCTATAGAACGCATTTT	0.333																																					p.1634_1635del		.											.	NIPBL-293	2	Substitution - Missense(2)	lung(2)	c.4900_4903del						.																																			SO:0001589	frameshift_variant	25836	exon24			.	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.4900_4903delATAG	5.37:g.37017244_37017247delATAG	ENSP00000282516:p.Ile1634fs	Somatic	141	0		WXS	Illumina HiSeq	Phase_I	173	76	NM_015384	0	0	0	0	0	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Frame_Shift_Del	DEL	ENST00000282516.8	37	CCDS3920.1																																																																																			.		0.333	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384	
TXNDC15	79770	broad.mit.edu;bcgsc.ca	37	5	134223683	134223688	+	In_Frame_Del	DEL	TGGCGC	TGGCGC	-	rs144331590		TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	TGGCGC	TGGCGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr5:134223683_134223688delTGGCGC	ENST00000358387.4	+	2	1027_1032	c.402_407delTGGCGC	c.(400-408)gatggcgct>gat	p.GA137del	TXNDC15_ENST00000546290.1_In_Frame_Del_p.GA114del	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	137					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)		p.G135G(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCTCTCTGGATGGCGCTGGAGCACAC	0.558																																					p.134_136del													.	TXNDC15-154	1	Substitution - coding silent(1)	endometrium(1)	c.402_407del						.																																			SO:0001651	inframe_deletion	79770	exon2			TCTGGATGGCGCT	AK026278	CCDS4180.1	5q31.1	2008-02-05	2007-08-16	2007-08-16	ENSG00000113621	ENSG00000113621			20652	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 14"""	C5orf14			Standard	NM_024715		Approved	2310047H23Rik, FLJ22625	uc003lac.1	Q96J42	OTTHUMG00000129115	ENST00000358387.4:c.402_407delTGGCGC	5.37:g.134223683_134223688delTGGCGC	ENSP00000351157:p.Gly137_Ala138del	Somatic	114	0		WXS	Illumina HiSeq	Phase_I	186	27	NM_024715	0	0	0	0	0	D3DQA9|Q96MT2|Q9H639	In_Frame_Del	DEL	ENST00000358387.4	37	CCDS4180.1																																																																																			.		0.558	TXNDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251160.1	NM_024715	
BRD8	10902	broad.mit.edu;bcgsc.ca	37	5	137506838	137506838	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr5:137506838delC	ENST00000254900.5	-	5	619	c.248delG	c.(247-249)ggtfs	p.G83fs	BRD8_ENST00000455658.2_Frame_Shift_Del_p.G42fs|BRD8_ENST00000230901.5_Frame_Shift_Del_p.G83fs|BRD8_ENST00000411594.2_Frame_Shift_Del_p.G83fs|BRD8_ENST00000402931.1_Frame_Shift_Del_p.G83fs	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	83					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TCCCTTTTCACCTCGTTTCCG	0.353																																					p.G83fs													.	BRD8-91	0			c.248delG						.						98.0	99.0	99.0					5																	137506838		2203	4300	6503	SO:0001589	frameshift_variant	10902	exon5			TTTTCACCTCGTT	AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.248delG	5.37:g.137506838delC	ENSP00000254900:p.Gly83fs	Somatic	115	0		WXS	Illumina HiSeq	Phase_I	136	19	NM_001164326	0	0	0	0	0	O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Frame_Shift_Del	DEL	ENST00000254900.5	37	CCDS4198.1																																																																																			.		0.353	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3	NM_006696	
HECW1	23072	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	7	43508701	43508701	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr7:43508701delA	ENST00000395891.2	+	16	3701	c.3096delA	c.(3094-3096)ggafs	p.G1032fs	HECW1_ENST00000453890.1_Frame_Shift_Del_p.G998fs	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1032	WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ACCAGCAGGGAAAGGTGAGTG	0.577																																					p.G1032fs		.											.	HECW1-669	0			c.3096delA						.						61.0	61.0	61.0					7																	43508701		1982	4167	6149	SO:0001589	frameshift_variant	23072	exon16			.	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.3096delA	7.37:g.43508701delA	ENSP00000379228:p.Gly1032fs	Somatic	77	0		WXS	Illumina HiSeq	Phase_I	110	36	NM_015052	0	0	0	0	0	A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Frame_Shift_Del	DEL	ENST00000395891.2	37	CCDS5469.2																																																																																			.		0.577	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052	
CYP3A43	64816	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	7	99434139	99434139	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr7:99434139delT	ENST00000354829.2	+	2	238	c.135delT	c.(133-135)cctfs	p.P45fs	CYP3A43_ENST00000421837.2_Frame_Shift_Del_p.P45fs|CYP3A43_ENST00000477658.1_Intron|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000415413.1_Frame_Shift_Del_p.P45fs|CYP3A43_ENST00000222382.5_Frame_Shift_Del_p.P45fs|CYP3A43_ENST00000312017.5_Frame_Shift_Del_p.P45fs|CYP3A43_ENST00000417625.1_Frame_Shift_Del_p.P45fs|CYP3A43_ENST00000342499.4_Intron	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	45			YGTHSHKLFKKLGIPGPTPLPFLGTILFYLRGLWNFDRECN EKYGEMWGLYEGQQPMLVIMDPD -> LGPIHINFLRSWEF LGQPLCLFWELFCSTLGVFGILTENVMKNTEKCGGCMRGNS PCWSSWIPT (in allele CYP3A43*2).		small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Dexamethasone(DB01234)|Dolutegravir(DB08930)|Ethosuximide(DB00593)|Oxazepam(DB00842)|Phenelzine(DB00780)|Praziquantel(DB01058)|Rifampicin(DB01045)|Rifapentine(DB01201)|Testosterone(DB00624)|Troleandomycin(DB01361)|Zalcitabine(DB00943)	CCCCTCTGCCTTTTCTGGGAA	0.393																																					p.P45fs		.											.	CYP3A43-92	0			c.135delT						.						95.0	93.0	94.0					7																	99434139		2203	4300	6503	SO:0001589	frameshift_variant	64816	exon2			.	AF319634	CCDS5675.1, CCDS5676.1, CCDS5677.1, CCDS64723.1	7q21.1	2007-12-14	2003-01-14		ENSG00000021461	ENSG00000021461		"""Cytochrome P450s"""	17450	protein-coding gene	gene with protein product		606534	"""cytochrome P450, subfamily IIIA, polypeptide 43"""			11160876, 11266076	Standard	NM_022820		Approved		uc003ury.1	Q9HB55	OTTHUMG00000156498	ENST00000354829.2:c.135delT	7.37:g.99434139delT	ENSP00000346887:p.Pro45fs	Somatic	103	0		WXS	Illumina HiSeq	Phase_I	88	21	NM_057096	0	0	0	0	0	Q495Y1|Q75MK2|Q75MK3|Q9HB52|Q9HB53|Q9HB54|Q9HB57	Frame_Shift_Del	DEL	ENST00000354829.2	37	CCDS5676.1																																																																																			.		0.393	CYP3A43-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000344379.1		
KCNK9	51305	broad.mit.edu;bcgsc.ca	37	8	140631226	140631231	+	In_Frame_Del	DEL	TGTTCA	TGTTCA	-			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	TGTTCA	TGTTCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr8:140631226_140631231delTGTTCA	ENST00000520439.1	-	2	458_463	c.395_400delTGAACA	c.(394-402)atgaacacc>acc	p.MN132del	KCNK9_ENST00000303015.1_In_Frame_Del_p.MN132del|KCNK9_ENST00000523477.1_5'Flank	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	132					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	CGCACGAAGGTGTTCATGCGCTCGCC	0.587																																					p.132_134del													.	KCNK9-93	0			c.395_400del						.																																			SO:0001651	inframe_deletion	51305	exon2			CGAAGGTGTTCAT	AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.395_400delTGAACA	8.37:g.140631226_140631231delTGTTCA	ENSP00000430676:p.Met132_Asn133del	Somatic	191	0		WXS	Illumina HiSeq	Phase_I	213	0	NM_016601	0	0	0	0	0	Q2M290|Q540F2	In_Frame_Del	DEL	ENST00000520439.1	37	CCDS6377.1																																																																																			.		0.587	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378473.1	NM_016601	
MRPL21	219927	broad.mit.edu	37	11	68660882	68660883	+	Frame_Shift_Ins	INS	-	-	T	rs368654836		TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr11:68660882_68660883insT	ENST00000362034.2	-	5	446_447	c.437_438insA	c.(436-438)aagfs	p.K146fs	MRPL21_ENST00000450904.2_Frame_Shift_Ins_p.K61fs|MRPL21_ENST00000567045.1_Frame_Shift_Ins_p.K61fs	NM_181514.1|NM_181515.1	NP_852615.1|NP_852616.1	Q7Z2W9	RM21_HUMAN	mitochondrial ribosomal protein L21	146					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(1)|lung(6)|prostate(1)	8			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CGAGGAGTGGCTTGCCAAGCAG	0.54																																					p.K146fs													.	MRPL21-90	0			c.438_439insA						.																																			SO:0001589	frameshift_variant	219927	exon5			GAGTGGCTTGCCA	AK096756	CCDS8186.1, CCDS44662.1	11q13.3	2012-09-13			ENSG00000197345	ENSG00000197345		"""Mitochondrial ribosomal proteins / large subunits"""	14479	protein-coding gene	gene with protein product		611834				11551941	Standard	NM_181514		Approved		uc001ooi.3	Q7Z2W9	OTTHUMG00000167893	ENST00000362034.2:c.438dupA	11.37:g.68660884_68660884dupT	ENSP00000354580:p.Lys146fs	Somatic	107	0		WXS	Illumina HiSeq	Phase_I	141	7	NM_181514	0	0	0	0	0	A6NKU0|C9JPR2	Frame_Shift_Ins	INS	ENST00000362034.2	37	CCDS8186.1																																																																																			.		0.540	MRPL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396856.1	NM_181512	
TIMELESS	8914	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	12	56827702	56827703	+	Frame_Shift_Ins	INS	-	-	CACG			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr12:56827702_56827703insCACG	ENST00000553532.1	-	3	255_256	c.105_106insCGTG	c.(103-108)gtgaagfs	p.K36fs	TIMELESS_ENST00000554616.1_Frame_Shift_Ins_p.K36fs|TIMELESS_ENST00000229201.4_Frame_Shift_Ins_p.K36fs					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						ATCAGATCCTTCACGCTCTCTT	0.52																																					p.K36fs		.											.	TIMELESS-159	0			c.106_107insCGTG						.																																			SO:0001589	frameshift_variant	8914	exon3			.	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.102_105dupCGTG	12.37:g.56827703_56827706dupCACG	ENSP00000450607:p.Lys36fs	Somatic	152	0		WXS	Illumina HiSeq	Phase_I	156	30	NM_003920	0	0	0	0	0		Frame_Shift_Ins	INS	ENST00000553532.1	37	CCDS8918.1																																																																																			.		0.520	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920	
TMEM132B	114795	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	12	126138829	126138830	+	In_Frame_Ins	INS	-	-	CAA			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr12:126138829_126138830insCAA	ENST00000299308.3	+	9	2818_2819	c.2810_2811insCAA	c.(2809-2814)ggcaac>ggCAAcaac	p.938_939insN	TMEM132B_ENST00000535886.1_In_Frame_Ins_p.450_451insN	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	938						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGTGAGCAGGGCAACATCCCCC	0.51																																					p.G937delinsGN		.											.	TMEM132B-185	0			c.2810_2811insCAA						.																																			SO:0001652	inframe_insertion	114795	exon9			.	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2811_2813dupCAA	12.37:g.126138830_126138832dupCAA	ENSP00000299308:p.Asn938_Asn938dup	Somatic	139	0		WXS	Illumina HiSeq	Phase_I	171	27	NM_052907	0	0	0	0	0	A2RRG8|Q8NA73|Q96JN9|Q96PY1	In_Frame_Ins	INS	ENST00000299308.3	37	CCDS41859.1																																																																																			.		0.510	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907	
RAB11FIP1	80223	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	8	37730035	37730036	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr8:37730035_37730036insT	ENST00000330843.4	-	4	2296_2297	c.2284_2285insA	c.(2284-2286)agcfs	p.S762fs	RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000522727.1_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	762					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CCTGGCTTTGCTCTCCACAAGA	0.569																																					p.S762fs		.											.	RAB11FIP1-92	0			c.2285_2286insA						.																																			SO:0001589	frameshift_variant	80223	exon4			.	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.2285dupA	8.37:g.37730036_37730036dupT	ENSP00000331342:p.Ser762fs	Somatic	91	0		WXS	Illumina HiSeq	Phase_I	128	27	NM_001002814	0	0	0	0	0	J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Frame_Shift_Ins	INS	ENST00000330843.4	37	CCDS34882.1																																																																																			.		0.569	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151	
DECR1	1666	hgsc.bcm.edu;bcgsc.ca	37	8	91029497	91029498	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr8:91029497_91029498insA	ENST00000220764.2	+	2	303_304	c.215_216insA	c.(214-219)ggtaaafs	p.K73fs	DECR1_ENST00000522161.1_Frame_Shift_Ins_p.K64fs|DECR1_ENST00000519007.1_3'UTR	NM_001359.1	NP_001350.1	Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial	73					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670)|NADPH binding (GO:0070402)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			ACTGGCCTTGGTAAAGGAATGA	0.45																																					p.G72fs		.											.	DECR1-90	0			c.215_216insA						.																																			SO:0001589	frameshift_variant	1666	exon2			.	L26050	CCDS6250.1	8q21.3	2011-09-14			ENSG00000104325	ENSG00000104325		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	2753	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 18C, member 1"""	222745		DECR		7818482, 19027726	Standard	NM_001359		Approved	SDR18C1	uc003yek.1	Q16698	OTTHUMG00000163829	Exception_encountered	8.37:g.91029497_91029498insA	ENSP00000220764:p.Lys73fs	Somatic	102	0		WXS	Illumina HiSeq	Phase_I	127	44	NM_001359	0	0	0	0	0	B7Z6B8|Q2M304|Q93085	Frame_Shift_Ins	INS	ENST00000220764.2	37	CCDS6250.1																																																																																			.		0.450	DECR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375822.1		
MAST4	375449	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	66449317	66449318	+	Missense_Mutation	DNP	CA	CA	AT			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	CA	CA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr5:66449317_66449318CA>AT	ENST00000403625.2	+	26	3852_3853	c.3557_3558CA>AT	c.(3556-3558)gCA>gAT	p.A1186D	MAST4_ENST00000405643.1_Missense_Mutation_p.A1007D|MAST4_ENST00000404260.3_Missense_Mutation_p.A1189D|MAST4_ENST00000261569.7_Missense_Mutation_p.A992D|MAST4_ENST00000403666.1_Missense_Mutation_p.A997D	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1189	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GCATGCCAGGCAGGACTGAAGG	0.441																																					p.A1189D		.											.	MAST4-647	0			c.A2991T						.																																			SO:0001583	missense	375449	exon25			CCAGGCAGGACTG	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	Exception_encountered	5.37:g.66449317_66449318delinsAT	ENSP00000385727:p.Ala1186Asp	Somatic	56.0	0.0		WXS	Illumina HiSeq	Phase_I	73.0	14.0	NM_015183	0	0	0	0	0	A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	DNP	ENST00000403625.2	37	CCDS54861.1																																																																																			.		0.441	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2		
VCAN	1462	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	82808190	82808191	+	Missense_Mutation	DNP	CA	CA	GC	rs558902507		TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	CA	CA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr5:82808190_82808191CA>GC	ENST00000265077.3	+	6	1582_1583	c.1017_1018CA>GC	c.(1015-1020)agCAga>agGCga	p.S339R	VCAN_ENST00000342785.4_Missense_Mutation_p.S339R|VCAN_ENST00000512590.2_Missense_Mutation_p.S291R|VCAN_ENST00000513984.1_Missense_Mutation_p.S339R|VCAN_ENST00000343200.5_Missense_Mutation_p.S339R|VCAN_ENST00000502527.2_Missense_Mutation_p.S339R	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	339	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	CCCCTGATAGCAGATTTGATGC	0.446																																					p.S339R		.											.	VCAN-238	0			c.A1018C						.																																			SO:0001583	missense	1462	exon6			GATAGCAGATTTG	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	Exception_encountered	5.37:g.82808190_82808191delinsGC	ENSP00000265077:p.Ser339Arg	Somatic	114.0	0.0		WXS	Illumina HiSeq	Phase_I	109.0	34.0	NM_001126336	0	0	0	0	0	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	DNP	ENST00000265077.3	37	CCDS4060.1																																																																																			.		0.446	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385	
KDM6A	7403	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	44922715	44922716	+	Nonsense_Mutation	DNP	GG	GG	TA			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	GG	GG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chrX:44922715_44922716GG>TA	ENST00000377967.4	+	16	1617_1618	c.1576_1577GG>TA	c.(1576-1578)GGg>TAg	p.G526*	KDM6A_ENST00000536777.1_Nonsense_Mutation_p.G481*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.G533*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.G447*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	526	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AATTCCTAATGGGCCAACAGCT	0.485			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																p.G533*	Colon(129;1273 1667 15230 27352 52914)	.		Rec	yes		X	Xp11.2	7403	"""lysine (K)-specific demethylase 6A, UTX"""		"""E, L"""	.	KDM6A-2748	8	Whole gene deletion(6)|No detectable mRNA/protein(2)	haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|breast(2)|pancreas(2)	c.G1577A						.																																			SO:0001587	stop_gained	7403	exon16			CTAATGGGCCAAC	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	Exception_encountered	X.37:g.44922715_44922716delinsTA	ENSP00000367203:p.Gly526*	Somatic	20.0	0.0		WXS	Illumina HiSeq	Phase_I	28.0	18.0	NM_021140	0	0	0	0	0	Q52LL9|Q5JVQ7	Nonsense_Mutation	DNP	ENST00000377967.4	37	CCDS14265.1																																																																																			.		0.485	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140	
MKL1	57591	broad.mit.edu;bcgsc.ca	37	22	40825749	40825750	+	Missense_Mutation	DNP	GA	GA	AG			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	GA	GA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr22:40825749_40825750GA>AG	ENST00000355630.3	-	7	751_752	c.161_162TC>CT	c.(160-162)cTC>cCT	p.L54P	MKL1_ENST00000396617.3_Missense_Mutation_p.L54P|MKL1_ENST00000402630.1_Missense_Mutation_p.L54P|MKL1_ENST00000402042.1_Missense_Mutation_p.L54P|MKL1_ENST00000407029.1_Missense_Mutation_p.L54P	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	54	Mediates interaction with SCAI and ACTB. {ECO:0000250}.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.L54L(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GCTTGGCCTGGAGGGATGGCTC	0.579			T	RBM15	acute megakaryocytic leukemia																																p.L54P				Dom	yes		22	22q13	57591	megakaryoblastic leukemia (translocation) 1		L	.	MKL1-948	1	Substitution - coding silent(1)	central_nervous_system(1)	c.T161C						.																																			SO:0001583	missense	57591	exon7			GCCTGGAGGGATG	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.161_162delinsAG	22.37:g.40825749_40825750delinsAG	ENSP00000347847:p.Leu54Pro	Somatic	99	2		WXS	Illumina HiSeq	Phase_I	124	35	NM_020831	0	0	0	0	0	Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	DNP	ENST00000355630.3	37	CCDS14003.1																																																																																			.		0.579	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831	
