#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
MUC2	4583	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	11	1075670	1075670	+	Silent	SNP	C	C	T			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr11:1075670C>T	ENST00000441003.2	+	2	123	c.96C>T	c.(94-96)caC>caT	p.H32H	MUC2_ENST00000359061.5_Silent_p.H32H	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	32					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCCGAAACCACGGCCACAACG	0.652																																						.											0													30.0	35.0	33.0					11																	1075670		2136	4231	6367	SO:0001819	synonymous_variant	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.96C>T	11.37:g.1075670C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q14878	Silent	SNP	ENST00000441003.2	37																																																																																					0.652	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457	
SIRT3	23410	broad.mit.edu;hgsc.bcm.edu	37	11	216703	216706	+	Frame_Shift_Del	DEL	TGTC	TGTC	-			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	TGTC	TGTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr11:216703_216706delTGTC	ENST00000382743.4	-	7	1294_1297	c.1192_1195delGACA	c.(1192-1197)gacaaafs	p.DK398fs	SIRT3_ENST00000524564.1_Frame_Shift_Del_p.DK352fs|SIRT3_ENST00000532956.1_Frame_Shift_Del_p.DK344fs|SIRT3_ENST00000529382.1_Frame_Shift_Del_p.DK256fs|SIRT3_ENST00000525319.1_Frame_Shift_Del_p.DK317fs	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIR3_HUMAN	sirtuin 3	398					aerobic respiration (GO:0009060)|peptidyl-lysine deacetylation (GO:0034983)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)	membrane (GO:0016020)|mitochondrion (GO:0005739)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|zinc ion binding (GO:0008270)			endometrium(1)|lung(5)|urinary_tract(1)	7		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		TCATCCTATTTGTCTGGTCCATCA	0.49																																						.											0																																										SO:0001589	frameshift_variant	23410			AF083108	CCDS7691.1, CCDS53590.1	11p15.5	2010-06-25	2010-06-25		ENSG00000142082	ENSG00000142082			14931	protein-coding gene	gene with protein product		604481	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 3"", ""sirtuin (silent mating type information regulation 2 homolog) 3 (S. cerevisiae)"""			10381378, 18215119	Standard	NM_012239		Approved	SIR2L3	uc001lok.4	Q9NTG7	OTTHUMG00000119074	ENST00000382743.4:c.1192_1195delGACA	11.37:g.216703_216706delTGTC	ENSP00000372191:p.Asp398fs	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z5U6|Q9Y6E8	Frame_Shift_Del	DEL	ENST00000382743.4	37	CCDS7691.1																																																																																				0.490	SIRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239288.3		
DSCAML1	57453	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	11	117307845	117307845	+	Silent	SNP	G	G	A			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr11:117307845G>A	ENST00000321322.6	-	26	4894	c.4893C>T	c.(4891-4893)taC>taT	p.Y1631Y	DSCAML1_ENST00000527706.1_Silent_p.Y1361Y	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1571					axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CACTGCCATCGTAGTCCAGGG	0.592																																						.											0													69.0	64.0	66.0					11																	117307845		2201	4296	6497	SO:0001819	synonymous_variant	57453				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.4893C>T	11.37:g.117307845G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	ENST00000321322.6	37	CCDS8384.1																																																																																				0.592	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693	
GPATCH4	54865	hgsc.bcm.edu	37	1	156565504	156565504	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr1:156565504delT	ENST00000438976.2	-	8	659	c.629delA	c.(628-630)aagfs	p.K213fs	GPATCH4_ENST00000497287.1_5'UTR|GPATCH4_ENST00000368232.4_Frame_Shift_Del_p.K208fs			Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	208							poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTTCTTTTTCTTTTTTTTGGG	0.537																																						.											0													90.0	89.0	90.0					1																	156565504		2203	4300	6503	SO:0001589	frameshift_variant	54865			BC056904	CCDS1146.1, CCDS44245.1	1q22	2013-01-28		2006-12-13	ENSG00000160818	ENSG00000160818		"""G patch domain containing"""	25982	protein-coding gene	gene with protein product				GPATC4		12477932	Standard	NM_015590		Approved	FLJ20249, DKFZP434F1735	uc001fpl.3	Q5T3I0	OTTHUMG00000033203	ENST00000438976.2:c.629delA	1.37:g.156565504delT	ENSP00000396441:p.Lys213fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q5T3I1|Q6ZUE7|Q8IWG8|Q9NXH4	Frame_Shift_Del	DEL	ENST00000438976.2	37	CCDS44245.1																																																																																				0.537	GPATCH4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386947.1	NM_017725	
SIX4	51804	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	14	61186805	61186805	+	Missense_Mutation	SNP	T	T	A			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr14:61186805T>A	ENST00000216513.4	-	2	1281	c.1222A>T	c.(1222-1224)Act>Tct	p.T408S		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	408					anatomical structure morphogenesis (GO:0009653)|embryonic cranial skeleton morphogenesis (GO:0048701)|generation of neurons (GO:0048699)|inner ear morphogenesis (GO:0042472)|metanephric mesenchyme development (GO:0072075)|myoblast migration (GO:0051451)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		AGTATGTCAGTCATGGATATA	0.463																																						.											0													133.0	108.0	116.0					14																	61186805		2203	4300	6503	SO:0001583	missense	51804			AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625		"""Homeoboxes / SINE class"""	10890	protein-coding gene	gene with protein product		606342	"""sine oculis homeobox (Drosophila) homolog 4"", ""sine oculis homeobox homolog 4 (Drosophila)"""			10512683, 10640827	Standard	NM_017420		Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.1222A>T	14.37:g.61186805T>A	ENSP00000216513:p.Thr408Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q4QQH5|Q4V764	Missense_Mutation	SNP	ENST00000216513.4	37	CCDS9749.2	.	.	.	.	.	.	.	.	.	.	T	15.65	2.897604	0.52121	.	.	ENSG00000100625	ENST00000216513;ENST00000554079;ENST00000556952	D;T	0.90620	-2.7;0.82	5.72	4.59	0.56863	.	0.202408	0.42053	N	0.000764	T	0.80969	0.4726	N	0.19112	0.55	0.20975	N	0.999816	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.65076	-0.6256	10	0.23302	T	0.38	.	8.4514	0.32873	0.0:0.1448:0.0:0.8552	.	400;408	G3V2N2;Q9UIU6	.;SIX4_HUMAN	S	408;81;400	ENSP00000216513:T408S;ENSP00000451537:T81S	ENSP00000216513:T408S	T	-	1	0	SIX4	60256558	0.985000	0.35326	1.000000	0.80357	0.997000	0.91878	1.638000	0.37165	2.194000	0.70268	0.533000	0.62120	ACT		0.463	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072397.2		
MTFMT	123263	hgsc.bcm.edu	37	15	65321780	65321780	+	Missense_Mutation	SNP	A	A	T	rs188718836	byFrequency	TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr15:65321780A>T	ENST00000220058.4	-	1	185	c.172T>A	c.(172-174)Ttc>Atc	p.F58I	MTFMT_ENST00000561025.1_5'Flank	NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	58						mitochondrion (GO:0005739)	methionyl-tRNA formyltransferase activity (GO:0004479)			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	TCGCGGGCGAACTGGTCCGTG	0.761													A|||	27	0.00539137	0.0008	0.0058	5008	,	,		9222	0.0		0.0119	False		,,,				2504	0.0102					.											0								A	ILE/PHE	5,2325		0,5,1160	2.0	3.0	2.0		172	3.6	0.5	15		2	49,5611		0,49,2781	yes	missense	MTFMT	NM_139242.3	21	0,54,3941	TT,TA,AA		0.8657,0.2146,0.6758	probably-damaging	58/390	65321780	54,7936	1165	2830	3995	SO:0001583	missense	123263			AK055688	CCDS45280.1	15q22.31	2006-11-29		2005-08-09		ENSG00000103707			29666	protein-coding gene	gene with protein product		611766				9614118	Standard	NM_139242		Approved	FMT1	uc002aof.4	Q96DP5		ENST00000220058.4:c.172T>A	15.37:g.65321780A>T	ENSP00000220058:p.Phe58Ile	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z734	Missense_Mutation	SNP	ENST00000220058.4	37	CCDS45280.1	10	0.004578754578754579	0	0.0	2	0.0055248618784530384	0	0.0	8	0.010554089709762533	A	20.5	3.997572	0.74818	0.002146	0.008657	ENSG00000103707	ENST00000220058;ENST00000543678	T;T	0.77877	-1.13;-1.13	4.83	3.62	0.41486	Formyl transferase, N-terminal (2);	0.049940	0.85682	D	0.000000	T	0.78629	0.4313	M	0.66378	2.025	0.42564	D	0.993154	D	0.57899	0.981	D	0.63033	0.91	T	0.82299	-0.0526	10	0.87932	D	0	-19.2998	8.2755	0.31871	0.8231:0.0:0.0:0.1769	.	58	Q96DP5	FMT_HUMAN	I	58	ENSP00000220058:F58I;ENSP00000443754:F58I	ENSP00000220058:F58I	F	-	1	0	MTFMT	63108833	0.988000	0.35896	0.512000	0.27736	0.150000	0.21749	3.146000	0.50631	1.802000	0.52723	0.528000	0.53228	TTC		0.761	MTFMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418155.1	NM_139242	
TP53	7157	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	17	7577139	7577139	+	Missense_Mutation	SNP	G	G	A	rs55832599		TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr17:7577139G>A	ENST00000269305.4	-	8	988	c.799C>T	c.(799-801)Cgg>Tgg	p.R267W	TP53_ENST00000445888.2_Missense_Mutation_p.R267W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R267W|TP53_ENST00000420246.2_Missense_Mutation_p.R267W|TP53_ENST00000455263.2_Missense_Mutation_p.R267W	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	267	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation; dbSNP:rs55832599). {ECO:0000269|PubMed:16959974}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R267W(25)|p.0?(8)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.R267G(1)|p.R267R(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AAGCTGTTCCGTCCCAGTAGA	0.522		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	50	Substitution - Missense(26)|Deletion - In frame(9)|Whole gene deletion(8)|Unknown(3)|Deletion - Frameshift(3)|Substitution - coding silent(1)	large_intestine(9)|central_nervous_system(9)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|stomach(3)|liver(3)|upper_aerodigestive_tract(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thymus(1)|breast(1)|skin(1)|eye(1)|prostate(1)											51.0	45.0	47.0					17																	7577139		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.799C>T	17.37:g.7577139G>A	ENSP00000269305:p.Arg267Trp	Somatic		WXS	Illumina HiSeq	Phase_I	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307537	0.81247	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	5.13	4.15	0.48705	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.058834	0.64402	D	0.000001	D	0.99862	0.9935	M	0.90759	3.145	0.58432	D	0.999999	D;D;D;P	0.89917	0.974;1.0;0.979;0.876	P;D;P;P	0.91635	0.703;0.999;0.868;0.728	D	0.96589	0.9436	10	0.87932	D	0	-8.7531	12.741	0.57253	0.0:0.0:0.8346:0.1654	rs55832599	267;267;267;267	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	267;267;267;267;267;256;135	ENSP00000352610:R267W;ENSP00000269305:R267W;ENSP00000398846:R267W;ENSP00000391127:R267W;ENSP00000391478:R267W;ENSP00000425104:R135W	ENSP00000269305:R267W	R	-	1	2	TP53	7517864	0.998000	0.40836	0.876000	0.34364	0.812000	0.45895	2.565000	0.45939	1.360000	0.45960	0.462000	0.41574	CGG		0.522	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
ZNF419	79744	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	19	58004570	58004570	+	Missense_Mutation	SNP	A	A	C			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr19:58004570A>C	ENST00000221735.7	+	5	831	c.645A>C	c.(643-645)aaA>aaC	p.K215N	ZNF419_ENST00000442920.2_Missense_Mutation_p.K202N|ZNF419_ENST00000347466.6_Missense_Mutation_p.K183N|ZNF419_ENST00000415379.2_Missense_Mutation_p.K169N|ZNF419_ENST00000426954.2_Missense_Mutation_p.K203N|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000354197.4_Missense_Mutation_p.K203N|ZNF419_ENST00000424930.2_Missense_Mutation_p.K216N			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	215					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		TTGGTCAGAAATATTTACTTG	0.413																																						.											0													64.0	67.0	66.0					19																	58004570		2201	4300	6501	SO:0001583	missense	79744			AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136		"""Zinc fingers, C2H2-type"", ""-"""	20648	protein-coding gene	gene with protein product			"""zinc finger protein 419A"""	ZNF419A			Standard	NM_001098492		Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000221735.7:c.645A>C	19.37:g.58004570A>C	ENSP00000221735:p.Lys215Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0	Missense_Mutation	SNP	ENST00000221735.7	37	CCDS54326.1	.	.	.	.	.	.	.	.	.	.	A	7.539	0.660263	0.14645	.	.	ENSG00000105136	ENST00000284020;ENST00000424930;ENST00000426954;ENST00000354197;ENST00000442920;ENST00000517598;ENST00000347466;ENST00000415379;ENST00000221735	T;T;T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59;0.59;0.59	2.36	0.144	0.14824	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27967	0.0689	N	0.20328	0.56	0.09310	N	1	B;B;B;B;B;B;B	0.15930	0.001;0.006;0.015;0.006;0.002;0.012;0.002	B;B;B;B;B;B;B	0.15484	0.003;0.009;0.013;0.009;0.002;0.013;0.002	T	0.24977	-1.0145	9	0.06757	T	0.87	.	4.4449	0.11593	0.5962:0.1799:0.2239:0.0	.	169;169;202;203;216;183;215	E9PFX9;B4DXU7;E9PCP4;E9PET3;E9PED0;Q96HQ0-2;Q96HQ0	.;.;.;.;.;.;ZN419_HUMAN	N	218;216;203;203;202;216;183;169;215	ENSP00000388864:K216N;ENSP00000390916:K203N;ENSP00000346136:K203N;ENSP00000414709:K202N;ENSP00000299860:K183N;ENSP00000392129:K169N;ENSP00000221735:K215N	ENSP00000221735:K215N	K	+	3	2	ZNF419	62696382	0.000000	0.05858	0.000000	0.03702	0.182000	0.23217	-4.071000	0.00301	-0.233000	0.09797	-1.203000	0.01651	AAA		0.413	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378506.1	NM_024691	
ZNF846	162993	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	19	9869291	9869291	+	Missense_Mutation	SNP	G	G	C			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr19:9869291G>C	ENST00000397902.2	-	6	875	c.462C>G	c.(460-462)aaC>aaG	p.N154K	ZNF846_ENST00000588267.1_Missense_Mutation_p.N25K|ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000592859.1_Missense_Mutation_p.N25K	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	154					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						TATGAGGAAAGTTCTTTCTTA	0.368																																						.											0													114.0	108.0	110.0					19																	9869291		1817	4087	5904	SO:0001583	missense	162993			AK097652	CCDS42496.1	19p13.2	2013-01-08			ENSG00000196605	ENSG00000196605		"""Zinc fingers, C2H2-type"", ""-"""	27260	protein-coding gene	gene with protein product							Standard	NM_001077624		Approved		uc002mmb.1	Q147U1		ENST00000397902.2:c.462C>G	19.37:g.9869291G>C	ENSP00000380999:p.Asn154Lys	Somatic		WXS	Illumina HiSeq	Phase_I	A8K0H1|B3KUP1	Missense_Mutation	SNP	ENST00000397902.2	37	CCDS42496.1	.	.	.	.	.	.	.	.	.	.	.	0.854	-0.737634	0.03111	.	.	ENSG00000196605	ENST00000397902	T	0.05447	3.44	1.78	-0.534	0.11883	.	.	.	.	.	T	0.02494	0.0076	N	0.05177	-0.1	0.09310	N	1	B	0.18310	0.027	B	0.09377	0.004	T	0.47861	-0.9084	8	.	.	.	.	3.8225	0.08841	0.1567:0.0:0.6063:0.237	.	154	Q147U1	ZN846_HUMAN	K	154	ENSP00000380999:N154K	.	N	-	3	2	ZNF846	9730291	0.000000	0.05858	0.012000	0.15200	0.126000	0.20510	-3.089000	0.00610	-0.052000	0.13311	0.558000	0.71614	AAC		0.368	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450253.1	NM_001077624	
ZNF497	162968	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	58868487	58868487	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr19:58868487C>T	ENST00000311044.3	-	3	703	c.515G>A	c.(514-516)cGc>cAc	p.R172H	A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|ZNF497_ENST00000425453.3_Missense_Mutation_p.R172H|A1BG-AS1_ENST00000593374.1_RNA|CTD-2619J13.9_ENST00000599952.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000593960.1_RNA	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	172					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		CGAGTGCGCGCGGAAGGCCTT	0.677																																						.											0													31.0	26.0	28.0					19																	58868487		2203	4299	6502	SO:0001583	missense	162968			AK126727	CCDS12977.1	19q13.43	2013-01-08			ENSG00000174586	ENSG00000174586		"""Zinc fingers, C2H2-type"""	23714	protein-coding gene	gene with protein product							Standard	NM_198458		Approved	FLJ44773	uc002qsi.2	Q6ZNH5		ENST00000311044.3:c.515G>A	19.37:g.58868487C>T	ENSP00000311183:p.Arg172His	Somatic		WXS	Illumina HiSeq	Phase_I	Q05AG8|Q0VF48|Q6ZTD2|Q9UIA8	Missense_Mutation	SNP	ENST00000311044.3	37	CCDS12977.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.600356	0.46423	.	.	ENSG00000174586	ENST00000311044;ENST00000425453;ENST00000391697	T;T	0.36157	1.27;1.27	0.813	0.813	0.18749	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29524	0.0736	L	0.58925	1.835	0.23120	N	0.998262	B	0.30482	0.281	B	0.30179	0.112	T	0.31943	-0.9925	9	0.52906	T	0.07	.	3.0719	0.06234	0.0:0.6841:0.0:0.3159	.	172	Q6ZNH5	ZN497_HUMAN	H	172;172;17	ENSP00000311183:R172H;ENSP00000402815:R172H	ENSP00000311183:R172H	R	-	2	0	ZNF497	63560299	0.000000	0.05858	0.066000	0.19879	0.379000	0.30106	-3.047000	0.00630	0.715000	0.32103	0.205000	0.17691	CGC		0.677	ZNF497-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466942.2	NM_198458	
SCN1A	6323	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	166900204	166900204	+	Missense_Mutation	SNP	A	A	T			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr2:166900204A>T	ENST00000303395.4	-	11	2017	c.2018T>A	c.(2017-2019)aTa>aAa	p.I673K	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Intron|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Intron|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.I673K			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	673					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGGCTTATCTATTATCACCTC	0.473																																						.											0													72.0	67.0	69.0					2																	166900204		2203	4300	6503	SO:0001583	missense	6323			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.2018T>A	2.37:g.166900204A>T	ENSP00000303540:p.Ile673Lys	Somatic		WXS	Illumina HiSeq	Phase_I	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	A	14.10	2.434635	0.43224	.	.	ENSG00000144285	ENST00000423058;ENST00000303395	D;D	0.90620	-2.7;-2.7	4.9	4.9	0.64082	Domain of unknown function DUF3451 (1);	0.000000	0.64402	D	0.000010	D	0.85191	0.5640	L	0.34521	1.04	0.45066	D	0.998084	P	0.42357	0.777	B	0.43052	0.406	T	0.83092	-0.0132	10	0.06365	T	0.9	.	14.8259	0.70113	1.0:0.0:0.0:0.0	.	673	P35498	SCN1A_HUMAN	K	673	ENSP00000407030:I673K;ENSP00000303540:I673K	ENSP00000303540:I673K	I	-	2	0	SCN1A	166608450	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.285000	0.78660	1.962000	0.57031	0.459000	0.35465	ATA		0.473	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920	
YDJC	150223	hgsc.bcm.edu	37	22	21982830	21982830	+	Silent	SNP	C	C	T			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr22:21982830C>T	ENST00000292778.6	-	5	898	c.849G>A	c.(847-849)cgG>cgA	p.R283R	YDJC_ENST00000398873.3_3'UTR	NM_001017964.1	NP_001017964.1	A8MPS7	YDJC_HUMAN	YdjC homolog (bacterial)	283					carbohydrate metabolic process (GO:0005975)		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)					Colorectal(54;0.105)					CAAGCTGGGCCCGCAGCGTGG	0.692																																						.											0													35.0	35.0	35.0					22																	21982830		2203	4300	6503	SO:0001819	synonymous_variant	150223				CCDS33613.1	22q11.21	2008-02-26			ENSG00000161179	ENSG00000161179			27158	protein-coding gene	gene with protein product						18177738	Standard	XM_005261347		Approved		uc002zvb.2	A8MPS7	OTTHUMG00000150822	ENST00000292778.6:c.849G>A	22.37:g.21982830C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q2YDT4|Q4V9R7	Silent	SNP	ENST00000292778.6	37	CCDS33613.1																																																																																				0.692	YDJC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320213.1		
RTCB	51493	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	22	32797733	32797733	+	Splice_Site	SNP	C	C	A			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr22:32797733C>A	ENST00000216038.5	-	5	596		c.e5+1		RTCB_ENST00000451746.2_Intron|RTCB_ENST00000476619.1_Splice_Site	NM_014306.4	NP_055121.1			RNA 2',3'-cyclic phosphate and 5'-OH ligase																		TGTGCTCTTACTTGGCATTCA	0.473																																						.											0													196.0	146.0	163.0					22																	32797733		2203	4300	6503	SO:0001630	splice_region_variant	51493			BC016707	CCDS13905.1	22q12.3	2013-05-22	2013-05-22	2013-05-22	ENSG00000100220	ENSG00000100220	6.5.1.3		26935	protein-coding gene	gene with protein product	"""focal adhesion-associated protein"""	613901	"""chromosome 22 open reading frame 28"""	C22orf28		11042152, 21209330, 21311021	Standard	NM_014306		Approved	HSPC117, FAAP		Q9Y3I0	OTTHUMG00000030300	ENST00000216038.5:c.497+1G>T	22.37:g.32797733C>A		Somatic		WXS	Illumina HiSeq	Phase_I		Splice_Site	SNP	ENST00000216038.5	37	CCDS13905.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676466	0.88445	.	.	ENSG00000100220	ENST00000216038	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0344	0.97551	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C22orf28	31127733	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.763000	0.85283	2.803000	0.96430	0.650000	0.86243	.		0.473	RTCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075188.3	NM_014306	Intron
ISCA1	81689	hgsc.bcm.edu;ucsc.edu	37	9	88897335	88897335	+	Silent	SNP	C	C	A			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr9:88897335C>A	ENST00000375991.4	-	1	109	c.39G>T	c.(37-39)gtG>gtT	p.V13V	ISCA1_ENST00000311534.6_5'Flank|ISCA1_ENST00000452279.2_Silent_p.V60V|ISCA1_ENST00000326094.4_Silent_p.V13V	NM_030940.3	NP_112202.2	Q9BUE6	ISCA1_HUMAN	iron-sulfur cluster assembly 1	13					iron-sulfur cluster assembly (GO:0016226)	mitochondrion (GO:0005739)	iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)	8				OV - Ovarian serous cystadenocarcinoma(323;5.4e-34)|Lung(182;0.0375)		TCCTCTTGCTCACAGCCCGGA	0.706																																						.											0													7.0	7.0	7.0					9																	88897335		2128	4176	6304	SO:0001819	synonymous_variant	81689			AF038186	CCDS35056.1	9q22.1	2013-08-06	2013-08-06	2007-01-18	ENSG00000135070	ENSG00000135070			28660	protein-coding gene	gene with protein product		611006	"""HESB like domain containing 2"", ""iron-sulfur cluster assembly 1 homolog (S. cerevisiae)"""	HBLD2		15262227, 22323289	Standard	NM_030940		Approved	MGC4276, ISA1, hIscA	uc004aop.3	Q9BUE6	OTTHUMG00000020135	ENST00000375991.4:c.39G>T	9.37:g.88897335C>A		Somatic		WXS	Illumina HiSeq	Phase_I	B3KP34|B4DJI5|Q8ND75|Q9BZR2	Silent	SNP	ENST00000375991.4	37	CCDS35056.1																																																																																				0.706	ISCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052914.1	NM_030940	
IL4R	3566	hgsc.bcm.edu	37	16	27374117	27374117	+	Silent	SNP	C	C	T			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr16:27374117C>T	ENST00000395762.2	+	11	1703	c.1444C>T	c.(1444-1446)Ctg>Ttg	p.L482L	IL4R_ENST00000543915.2_Silent_p.L482L|IL4R_ENST00000170630.2_Silent_p.L482L|IL4R_ENST00000380922.3_Silent_p.L467L	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	482	Required for IRS1 activation and IL4- induced cell growth.				defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						TCCAGACAACCTGACTTGCAC	0.647																																						.											0													85.0	88.0	87.0					16																	27374117		2197	4300	6497	SO:0001819	synonymous_variant	3566			X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"""Interleukins and interleukin receptors"", ""CD molecules"""	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.1444C>T	16.37:g.27374117C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Silent	SNP	ENST00000395762.2	37	CCDS10629.1																																																																																				0.647	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4		
HRC	3270	broad.mit.edu;hgsc.bcm.edu	37	19	49656872	49656872	+	Silent	SNP	C	C	T			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr19:49656872C>T	ENST00000252825.4	-	1	1809	c.1623G>A	c.(1621-1623)gaG>gaA	p.E541E	HRC_ENST00000595625.1_Silent_p.E541E	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	541					cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		cctcctcctcctccttgtctt	0.612																																					Melanoma(37;75 1097 24567 25669 30645)	.											0													57.0	31.0	40.0					19																	49656872		2203	4300	6503	SO:0001819	synonymous_variant	3270				CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.1623G>A	19.37:g.49656872C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q504Y6	Silent	SNP	ENST00000252825.4	37	CCDS12759.1																																																																																				0.612	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152	
PRDM2	7799	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	14105033	14105033	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr1:14105033C>T	ENST00000235372.7	+	8	1599	c.743C>T	c.(742-744)cCa>cTa	p.P248L	PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.P248L|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.P47L|PRDM2_ENST00000343137.4_Missense_Mutation_p.P47L	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	248					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GCCTGGGAGCCACAGCCAGAA	0.592																																						.											0													53.0	58.0	56.0					1																	14105033		2202	4300	6502	SO:0001583	missense	7799			U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.743C>T	1.37:g.14105033C>T	ENSP00000235372:p.Pro248Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	CCDS150.1	.	.	.	.	.	.	.	.	.	.	C	7.476	0.647689	0.14516	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137;ENST00000407521	T;T;T;T	0.01572	4.88;4.77;4.76;4.76	5.66	2.67	0.31697	.	0.702533	0.14676	N	0.305019	T	0.02156	0.0067	L	0.40543	1.245	0.25767	N	0.984882	B;B;B	0.19817	0.0;0.023;0.039	B;B;B	0.23716	0.002;0.021;0.048	T	0.41070	-0.9529	10	0.59425	D	0.04	.	7.4233	0.27083	0.0:0.6362:0.0:0.3638	.	106;248;248	Q5THJ0;Q13029;Q13029-2	.;PRDM2_HUMAN;.	L	248;248;248;47;47;47	ENSP00000235372:P248L;ENSP00000312352:P248L;ENSP00000411103:P47L;ENSP00000341621:P47L	ENSP00000235372:P248L	P	+	2	0	PRDM2	13977620	0.058000	0.20735	0.043000	0.18650	0.063000	0.16089	0.460000	0.21924	0.283000	0.22279	-0.378000	0.06908	CCA		0.592	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231	
CSMD2	114784	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	34043016	34043016	+	Missense_Mutation	SNP	C	C	T	rs374084658		TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr1:34043016C>T	ENST00000373381.4	-	49	7632	c.7456G>A	c.(7456-7458)Ggg>Agg	p.G2486R		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2488	Sushi 14. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ATGGAGCCCCCGGGCTGGGTG	0.642													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15976	0.0		0.0	False		,,,				2504	0.0					.											0								C	ARG/GLY	0,4406		0,0,2203	49.0	53.0	51.0		7462	5.4	1.0	1		51	1,8599	1.2+/-3.3	0,1,4299	no	missense	CSMD2	NM_052896.3	125	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	2488/3488	34043016	1,13005	2203	4300	6503	SO:0001583	missense	114784			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.7456G>A	1.37:g.34043016C>T	ENSP00000362479:p.Gly2486Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37		.	.	.	.	.	.	.	.	.	.	C	33	5.242722	0.95272	0.0	1.16E-4	ENSG00000121904	ENST00000373381	T	0.71698	-0.59	5.45	5.45	0.79879	Complement control module (2);Sushi/SCR/CCP (3);	0.123617	0.53938	D	0.000044	D	0.86167	0.5868	M	0.84511	2.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87679	0.2546	10	0.62326	D	0.03	.	18.2782	0.90089	0.0:1.0:0.0:0.0	.	2488;2486	Q7Z408;E7EUA6	CSMD2_HUMAN;.	R	2486	ENSP00000362479:G2486R	ENSP00000241312:G2488R	G	-	1	0	CSMD2	33815603	1.000000	0.71417	0.989000	0.46669	0.989000	0.77384	7.757000	0.85209	2.569000	0.86673	0.563000	0.77884	GGG		0.642	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896	
PRRC2C	23215	broad.mit.edu	37	1	171560737	171560737	+	Silent	SNP	A	A	G			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr1:171560737A>G	ENST00000338920.4	+	34	8442	c.8205A>G	c.(8203-8205)agA>agG	p.R2735R	PRRC2C_ENST00000367742.3_Silent_p.R2737R|PRRC2C_ENST00000392078.3_Silent_p.R2816R|PRRC2C_ENST00000426496.2_Silent_p.R2670R	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2814					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										CAAAGCAGAGAGCAGAGGTTC	0.418																																						.											0													81.0	76.0	78.0					1																	171560737		1919	4135	6054	SO:0001819	synonymous_variant	23215			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.8205A>G	1.37:g.171560737A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Silent	SNP	ENST00000338920.4	37	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	A	5.980	0.364720	0.11296	.	.	ENSG00000117523	ENST00000495585	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	T	0.66317	0.2777	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66180	-0.5988	4	.	.	.	.	16.3871	0.83514	1.0:0.0:0.0:0.0	.	.	.	.	G	1218	.	.	E	+	2	0	PRRC2C	169827360	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.978000	0.56881	2.270000	0.75569	0.482000	0.46254	GAG		0.418	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172	
ZDHHC13	54503	broad.mit.edu	37	11	19170858	19170858	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr11:19170858T>C	ENST00000446113.2	+	5	620	c.499T>C	c.(499-501)Tat>Cat	p.Y167H	ZDHHC13_ENST00000532812.1_3'UTR|ZDHHC13_ENST00000399351.3_Missense_Mutation_p.Y37H	NM_019028.2	NP_061901.2	Q8IUH4	ZDH13_HUMAN	zinc finger, DHHC-type containing 13	167					metabolic process (GO:0008152)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						TATTATAGCATATCTCATCTC	0.408																																						.											0													77.0	67.0	70.0					11																	19170858		1880	4111	5991	SO:0001583	missense	54503			AB024495	CCDS44550.1, CCDS44551.1	11p15.1	2013-01-10			ENSG00000177054	ENSG00000177054		"""Zinc fingers, DHHC-type"", ""Ankyrin repeat domain containing"""	18413	protein-coding gene	gene with protein product		612815				18794299	Standard	NM_001001483		Approved	FLJ10852, FLJ10941, HIP14L	uc001mpi.3	Q8IUH4	OTTHUMG00000166099	ENST00000446113.2:c.499T>C	11.37:g.19170858T>C	ENSP00000400113:p.Tyr167His	Somatic		WXS	Illumina HiSeq	Phase_I	Q7Z2D3|Q86VK2|Q9NV30|Q9NV99	Missense_Mutation	SNP	ENST00000446113.2	37	CCDS44550.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.582144	0.86748	.	.	ENSG00000177054	ENST00000446113;ENST00000399351	T;T	0.66460	-0.21;-0.18	5.79	5.79	0.91817	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.79673	0.4486	M	0.64260	1.97	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79356	-0.1837	9	.	.	.	-11.0759	15.7882	0.78326	0.0:0.0:0.0:1.0	.	167	Q8IUH4	ZDH13_HUMAN	H	167;37	ENSP00000400113:Y167H;ENSP00000382288:Y37H	.	Y	+	1	0	ZDHHC13	19127434	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.698000	0.84413	2.205000	0.71048	0.455000	0.32223	TAT		0.408	ZDHHC13-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387821.1	NM_019028	
CHD4	1108	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	6702730	6702730	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr12:6702730T>C	ENST00000357008.2	-	16	2529	c.2366A>G	c.(2365-2367)aAc>aGc	p.N789S	CHD4_ENST00000544040.1_Missense_Mutation_p.N782S|CHD4_ENST00000544484.1_Missense_Mutation_p.N786S|CHD4_ENST00000309577.6_Missense_Mutation_p.N789S	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	789	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						CCGCTCCCAGTTGATGATGGT	0.532																																					Colon(32;586 792 4568 16848 45314)	.											0													98.0	95.0	96.0					12																	6702730		2203	4300	6503	SO:0001583	missense	1108			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.2366A>G	12.37:g.6702730T>C	ENSP00000349508:p.Asn789Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.374532	0.82573	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.93953	-3.32;-3.32;-3.32;-3.32	4.8	4.8	0.61643	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.97173	0.9076	M	0.91196	3.185	0.80722	D	1	D;D;D	0.76494	0.999;0.974;0.996	D;P;D	0.77557	0.99;0.897;0.98	D	0.98107	1.0418	10	0.87932	D	0	-0.1448	14.5214	0.67853	0.0:0.0:0.0:1.0	.	789;789;782	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	S	786;782;789;789;763	ENSP00000440392:N786S;ENSP00000440542:N782S;ENSP00000312419:N789S;ENSP00000349508:N789S	ENSP00000312419:N789S	N	-	2	0	CHD4	6572991	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.841000	0.86834	2.017000	0.59298	0.482000	0.46254	AAC		0.532	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273	
DPPA3	359787	broad.mit.edu	37	12	7868798	7868798	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr12:7868798A>G	ENST00000345088.2	+	3	449	c.332A>G	c.(331-333)gAa>gGa	p.E111G		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	111					chromatin modification (GO:0016568)|embryonic cleavage (GO:0040016)|negative regulation of DNA demethylation (GO:1901536)|protection of DNA demethylation of female pronucleus (GO:0044726)|regulation of genetic imprinting (GO:2000653)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		ATGAAGCATGAAAGAAGACCA	0.294																																						.											0													47.0	53.0	51.0					12																	7868798		2203	4300	6503	SO:0001583	missense	359787			AY317075	CCDS8582.1	12p13.31	2012-10-02			ENSG00000187569	ENSG00000187569			19199	protein-coding gene	gene with protein product		608408					Standard	NM_199286		Approved	Stella	uc001qtf.3	Q6W0C5	OTTHUMG00000168434	ENST00000345088.2:c.332A>G	12.37:g.7868798A>G	ENSP00000339250:p.Glu111Gly	Somatic		WXS	Illumina HiSeq	Phase_I	Q0P5U3|Q6JZS6	Missense_Mutation	SNP	ENST00000345088.2	37	CCDS8582.1	.	.	.	.	.	.	.	.	.	.	A	5.779	0.327999	0.10956	.	.	ENSG00000187569	ENST00000345088	T	0.47177	0.85	2.12	-0.41	0.12374	.	.	.	.	.	T	0.22551	0.0544	N	0.08118	0	0.09310	N	1	B	0.30889	0.299	B	0.30029	0.11	T	0.18241	-1.0343	9	0.72032	D	0.01	-3.4822	2.5685	0.04789	0.5393:0.2872:0.1735:0.0	.	111	Q6W0C5	DPPA3_HUMAN	G	111	ENSP00000339250:E111G	ENSP00000339250:E111G	E	+	2	0	DPPA3	7760065	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	0.090000	0.15025	-0.092000	0.12417	-0.782000	0.03352	GAA		0.294	DPPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399718.1	NM_199286	
HNF1A	6927	broad.mit.edu	37	12	121426736	121426736	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr12:121426736C>T	ENST00000257555.6	+	2	653	c.427C>T	c.(427-429)Cac>Tac	p.H143Y	HNF1A_ENST00000543427.1_Missense_Mutation_p.H26Y|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000544413.1_Missense_Mutation_p.H143Y|HNF1A_ENST00000541395.1_Missense_Mutation_p.H143Y|HNF1A_ENST00000402929.1_Missense_Mutation_p.H143Y|HNF1A_ENST00000400024.2_Missense_Mutation_p.H143Y			P20823	HNF1A_HUMAN	HNF1 homeobox A	143	Interaction with DNA.		H -> Y (in MODY3; expected to interfere with DNA binding). {ECO:0000269|PubMed:10102714, ECO:0000269|PubMed:9075819}.		glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAACCAGTCCCACCTGTCCCA	0.632									Hepatic Adenoma, Familial Clustering of																													.											0			GRCh37	CD083323|CM971449	HNF1A	D|M							167.0	124.0	139.0					12																	121426736		2203	4300	6503	SO:0001583	missense	6927	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"""Homeoboxes / HNF class"""	11621	protein-coding gene	gene with protein product		142410	"""transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"""	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000257555.6:c.427C>T	12.37:g.121426736C>T	ENSP00000257555:p.His143Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Missense_Mutation	SNP	ENST00000257555.6	37	CCDS9209.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.597685	0.87055	.	.	ENSG00000135100	ENST00000257555;ENST00000535125;ENST00000543536;ENST00000544680;ENST00000537424;ENST00000543027;ENST00000543427;ENST00000545458;ENST00000541395;ENST00000340577;ENST00000344370;ENST00000544413	D;D;D;D	0.99369	-5.78;-5.78;-5.78;-5.78	5.08	5.08	0.68730	Hepatocyte nuclear factor 1, N-terminal (1);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	D	0.99137	0.9702	L	0.51422	1.61	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;1.0;1.0	D;D;D;D	0.97110	1.0;0.987;0.999;0.999	D	0.99892	1.1137	10	0.87932	D	0	-14.2594	17.4482	0.87584	0.0:1.0:0.0:0.0	.	143;143;143;143	F5H0K0;P20823;E7EUQ4;E7EMR0	.;HNF1A_HUMAN;.;.	Y	143;143;143;143;143;143;26;143;143;143;143;143	ENSP00000257555:H143Y;ENSP00000439721:H26Y;ENSP00000443112:H143Y;ENSP00000438804:H143Y	ENSP00000257555:H143Y	H	+	1	0	HNF1A	119911119	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.429000	0.80309	2.348000	0.79779	0.530000	0.56133	CAC		0.632	HNF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320957.5	NM_000545	
KNTC1	9735	broad.mit.edu	37	12	123075242	123075242	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr12:123075242A>G	ENST00000333479.7	+	41	4265	c.4088A>G	c.(4087-4089)aAg>aGg	p.K1363R	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1363					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		AATCTCTGGAAGCTCATAGAT	0.403																																						.											0													163.0	152.0	156.0					12																	123075242		1859	4090	5949	SO:0001583	missense	9735				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.4088A>G	12.37:g.123075242A>G	ENSP00000328236:p.Lys1363Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	37	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	A	16.77	3.216136	0.58452	.	.	ENSG00000184445	ENST00000333479	T	0.13778	2.56	5.6	5.6	0.85130	.	0.437138	0.28577	N	0.014851	T	0.14227	0.0344	L	0.56769	1.78	0.80722	D	1	B	0.33583	0.418	B	0.29942	0.109	T	0.05131	-1.0904	10	0.26408	T	0.33	-12.7695	11.7177	0.51663	0.9289:0.0:0.0711:0.0	.	1363	P50748	KNTC1_HUMAN	R	1363	ENSP00000328236:K1363R	ENSP00000328236:K1363R	K	+	2	0	KNTC1	121641195	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.660000	0.68018	2.140000	0.66376	0.477000	0.44152	AAG		0.403	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2		
POTEM	641455	broad.mit.edu	37	14	20019957	20019957	+	Silent	SNP	G	G	A	rs28578761		TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr14:20019957G>A	ENST00000551509.1	-	1	315	c.264C>T	c.(262-264)gaC>gaT	p.D88D		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	88								p.D88D(2)		endometrium(4)|kidney(1)|lung(4)	9						TCATAGCAGAGTCGTCGTGGT	0.627																																						.											2	Substitution - coding silent(2)	kidney(2)											8.0	15.0	13.0					14																	20019957		319	1136	1455	SO:0001819	synonymous_variant	641455				CCDS73609.1	14q11.2	2013-01-10			ENSG00000187537	ENSG00000187537		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37096	protein-coding gene	gene with protein product	"""prostate-specific P704P"""					16364570	Standard	NM_001145442		Approved	POTE14beta, P704P, ACT	uc001vwc.3	A6NI47		ENST00000551509.1:c.264C>T	14.37:g.20019957G>A		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000551509.1	37	CCDS45076.1																																																																																				0.627	POTEM-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409490.3	NM_001145442	
FAM98B	283742	broad.mit.edu	37	15	38776624	38776626	+	IGR	DEL	AGA	AGA	-			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	AGA	AGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr15:38776624_38776626delAGA	ENST00000491535.1	+	0	3111				FAM98B_ENST00000397609.2_In_Frame_Del_p.R356del	NM_001042429.1	NP_001035894.1	Q52LJ0	FA98B_HUMAN	family with sequence similarity 98, member B							cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-splicing ligase complex (GO:0072669)	poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)		tgggggtgggagaggtggctggg	0.68																																						.											0																																										SO:0001628	intergenic_variant	283742				CCDS10047.2	15q14	2006-11-29		2005-11-20	ENSG00000171262	ENSG00000171262			26773	protein-coding gene	gene with protein product						12477932	Standard	NM_173611		Approved	FLJ38426	uc001zkc.3	Q52LJ0	OTTHUMG00000129831		15.37:g.38776624_38776626delAGA		Somatic		WXS	Illumina HiSeq	Phase_I	A8MUW5|Q8N935	In_Frame_Del	DEL	ENST00000491535.1	37	CCDS42015.1																																																																																				0.680	FAM98B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252071.2	NM_173611	
TP53	7157	broad.mit.edu	37	17	7577532	7577532	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr17:7577532G>A	ENST00000269305.4	-	7	938	c.749C>T	c.(748-750)cCc>cTc	p.P250L	TP53_ENST00000445888.2_Missense_Mutation_p.P250L|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.P250L|TP53_ENST00000359597.4_Missense_Mutation_p.P250L|TP53_ENST00000420246.2_Missense_Mutation_p.P250L|TP53_ENST00000455263.2_Missense_Mutation_p.P250L	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	250	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P250L(45)|p.0?(8)|p.?(5)|p.P250H(4)|p.P250F(3)|p.P250N(2)|p.M246_P250delMNRRP(2)|p.P250_L252delPIL(2)|p.P250Q(2)|p.R248_P250delRRP(1)|p.P250_T253delPILT(1)|p.N247_P250delNRRP(1)|p.R249_P250delRP(1)|p.R249_T256delRPILTIIT(1)|p.I251fs*94(1)|p.R249_I251delRPI(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGTGAGGATGGGCCTCCGGTT	0.577		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	80	Substitution - Missense(56)|Deletion - In frame(10)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(1)	large_intestine(14)|lung(10)|breast(10)|upper_aerodigestive_tract(5)|biliary_tract(5)|skin(5)|ovary(5)|stomach(4)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|oesophagus(3)|liver(2)|urinary_tract(1)|eye(1)|peritoneum(1)|pancreas(1)|thyroid(1)	GRCh37	CM973401	TP53	M							154.0	112.0	126.0					17																	7577532		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.749C>T	17.37:g.7577532G>A	ENSP00000269305:p.Pro250Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504438	0.85176	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99885	-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99898	0.9951	M	0.91406	3.205	0.80722	D	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	0.997;0.996;0.998;0.998;1.0	D	0.96045	0.9027	10	0.87932	D	0	-1.5308	15.3618	0.74483	0.0:0.0:1.0:0.0	.	250;250;250;250;250	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	L	250;250;250;250;250;250;239;118	ENSP00000410739:P250L;ENSP00000352610:P250L;ENSP00000269305:P250L;ENSP00000398846:P250L;ENSP00000391127:P250L;ENSP00000391478:P250L;ENSP00000425104:P118L	ENSP00000269305:P250L	P	-	2	0	TP53	7518257	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	9.601000	0.98297	2.564000	0.86499	0.462000	0.41574	CCC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
TCEB3B	51224	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	18	44561017	44561017	+	Missense_Mutation	SNP	G	G	T			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr18:44561017G>T	ENST00000332567.4	-	1	971	c.619C>A	c.(619-621)Ctg>Atg	p.L207M	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	207					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCTGGACACAGCAGAGGCCCG	0.687																																						.											0													25.0	28.0	27.0					18																	44561017		2203	4298	6501	SO:0001583	missense	51224			BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.619C>A	18.37:g.44561017G>T	ENSP00000331302:p.Leu207Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	G	9.489	1.100122	0.20552	.	.	ENSG00000206181	ENST00000332567	T	0.07908	3.15	2.09	-2.03	0.07365	.	2.719630	0.01724	N	0.028476	T	0.17195	0.0413	L	0.47716	1.5	0.09310	N	1	D	0.67145	0.996	D	0.64877	0.93	T	0.18999	-1.0319	10	0.36615	T	0.2	6.0E-4	3.4497	0.07494	0.1594:0.0:0.286:0.5546	.	207	Q8IYF1	ELOA2_HUMAN	M	207	ENSP00000331302:L207M	ENSP00000331302:L207M	L	-	1	2	TCEB3B	42815015	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	1.247000	0.32815	-0.515000	0.06479	-0.521000	0.04368	CTG		0.687	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427	
PTOV1	53635	broad.mit.edu	37	19	50360994	50360996	+	In_Frame_Del	DEL	CAA	CAA	-			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	CAA	CAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr19:50360994_50360996delCAA	ENST00000601675.1	+	7	863_865	c.759_761delCAA	c.(757-762)gtcaac>gtc	p.N255del	AC018766.5_ENST00000601893.1_RNA|PTOV1_ENST00000391842.1_In_Frame_Del_p.N255del|PTOV1_ENST00000221557.9_In_Frame_Del_p.N223del|PTOV1_ENST00000598325.1_3'UTR|PTOV1_ENST00000600603.1_In_Frame_Del_p.N223del|PTOV1_ENST00000601638.1_In_Frame_Del_p.N223del|PTOV1_ENST00000599732.1_In_Frame_Del_p.N255del|AC018766.5_ENST00000593654.1_RNA|AC018766.6_ENST00000601211.1_RNA|AC018766.5_ENST00000599259.1_RNA|AC018766.4_ENST00000596624.1_RNA			Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	255	Interaction with FLOT1.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		TCCAGATCGTCAACAACAAGTTT	0.616																																						.											0										2,4262		1,0,2131						4.0	1.0			92	2,8252		0,2,4125	no	coding	PTOV1	NM_017432.3		1,2,6256	A1A1,A1R,RR		0.0242,0.0469,0.032				4,12514				SO:0001651	inframe_deletion	53635			AF238381	CCDS12782.1	19q13.33	2014-08-28	2008-09-12		ENSG00000104960	ENSG00000104960			9632	protein-coding gene	gene with protein product		610195				12598323, 15713644	Standard	XM_005258998		Approved		uc002pqf.1	Q86YD1	OTTHUMG00000183162	ENST00000601675.1:c.759_761delCAA	19.37:g.50361000_50361002delCAA	ENSP00000472816:p.Asn255del	Somatic		WXS	Illumina HiSeq	Phase_I	Q6UXX7|Q96BU3|Q9HBN4|Q9NYL1	In_Frame_Del	DEL	ENST00000601675.1	37	CCDS12782.1																																																																																				0.616	PTOV1-007	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465347.1	NM_017432	
SIRPB1	10326	broad.mit.edu	37	20	1558987	1558987	+	Missense_Mutation	SNP	G	G	A	rs368470461		TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr20:1558987G>A	ENST00000381605.4	-	2	494	c.430C>T	c.(430-432)Cgc>Tgc	p.R144C	SIRPB1_ENST00000262929.5_Missense_Mutation_p.R143C|RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.R144C|SIRPB1_ENST00000381603.3_Missense_Mutation_p.R144C	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	144					cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TACTCACCGCGCACAGACAGC	0.552																																						.											0								G	CYS/ARG,CYS/ARG	0,4392		0,0,2196	122.0	108.0	113.0		430,430	-0.3	0.0	20		113	1,8469		0,1,4234	no	missense,missense	SIRPB1	NM_001083910.2,NM_006065.3	180,180	0,1,6430	AA,AG,GG		0.0118,0.0,0.0078	possibly-damaging,possibly-damaging	144/182,144/399	1558987	1,12861	2196	4235	6431	SO:0001583	missense	10326			Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.430C>T	20.37:g.1558987G>A	ENSP00000371018:p.Arg144Cys	Somatic		WXS	Illumina HiSeq	Phase_I	A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	CCDS13019.1	.	.	.	.	.	.	.	.	.	.	.	11.45	1.642351	0.29246	0.0	1.18E-4	ENSG00000101307	ENST00000381605;ENST00000381603;ENST00000262929	T;T;T	0.02323	4.34;4.34;4.34	2.36	-0.31	0.12765	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.021760	0.07769	N	0.951360	T	0.06872	0.0175	L	0.49350	1.555	0.09310	N	1	D;D	0.71674	0.998;0.991	P;P	0.56960	0.624;0.81	T	0.40117	-0.9580	10	0.35671	T	0.21	.	6.6051	0.22721	0.0:0.0:0.5263:0.4737	.	144;144	O00241;O00241-2	SIRB1_HUMAN;.	C	144;144;143	ENSP00000371018:R144C;ENSP00000371016:R144C;ENSP00000262929:R143C	ENSP00000262929:R143C	R	-	1	0	SIRPB1	1506987	0.079000	0.21365	0.031000	0.17742	0.058000	0.15608	-0.025000	0.12413	-0.218000	0.10018	-0.521000	0.04368	CGC		0.552	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065	
ATG7	10533	broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	11340174	11340174	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr3:11340174C>T	ENST00000354449.3	+	2	30	c.5C>T	c.(4-6)gCg>gTg	p.A2V	ATG7_ENST00000446450.2_Missense_Mutation_p.A2V|ATG7_ENST00000354956.5_Missense_Mutation_p.A2V|ATG7_ENST00000469654.2_3'UTR	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	2					adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						GAAATAATGGCGGCAGCTACG	0.408																																						.											0													105.0	115.0	111.0					3																	11340174		2203	4300	6503	SO:0001583	missense	10533			AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"""Ubiquitin-like modifier activating enzymes"""	16935	protein-coding gene	gene with protein product	"""ubiquitin-activating enzyme E1-like protein"""	608760	"""APG7 autophagy 7-like (S. cerevisiae)"", ""ATG7 autophagy related 7 homolog (S. cerevisiae)"""	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740	ENST00000354449.3:c.5C>T	3.37:g.11340174C>T	ENSP00000346437:p.Ala2Val	Somatic		WXS	Illumina HiSeq	Phase_I	B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Missense_Mutation	SNP	ENST00000354449.3	37	CCDS2605.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.672825	0.67928	.	.	ENSG00000197548	ENST00000451513;ENST00000435760;ENST00000451830;ENST00000444619;ENST00000446450;ENST00000354956;ENST00000354449;ENST00000419112;ENST00000423116	T;T;T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89	6.17	5.3	0.74995	.	0.370287	0.27109	N	0.020900	T	0.24774	0.0601	N	0.14661	0.345	0.33124	D	0.54224	B;P;P	0.43352	0.396;0.804;0.704	B;B;B	0.34242	0.086;0.178;0.086	T	0.42949	-0.9421	10	0.72032	D	0.01	-4.5055	12.4727	0.55795	0.0:0.9231:0.0:0.0769	.	2;2;2	E9PB95;O95352-2;O95352	.;.;ATG7_HUMAN	V	2	ENSP00000415223:A2V;ENSP00000390547:A2V;ENSP00000411880:A2V;ENSP00000389996:A2V;ENSP00000412580:A2V;ENSP00000347042:A2V;ENSP00000346437:A2V;ENSP00000408303:A2V;ENSP00000416644:A2V	ENSP00000346437:A2V	A	+	2	0	ATG7	11315174	0.990000	0.36364	0.964000	0.40570	0.065000	0.16274	2.914000	0.48797	1.627000	0.50400	0.655000	0.94253	GCG		0.408	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251951.3	NM_006395	
NDUFAF3	25915	broad.mit.edu	37	3	49059954	49059954	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr3:49059954T>C	ENST00000326925.6	+	2	1387	c.253T>C	c.(253-255)Tcg>Ccg	p.S85P	NDUFAF3_ENST00000451378.2_Missense_Mutation_p.S28P|NDUFAF3_ENST00000395458.2_Missense_Mutation_p.S28P|MIR425_ENST00000362162.1_RNA|DALRD3_ENST00000440857.1_5'Flank|DALRD3_ENST00000313778.5_5'Flank|DALRD3_ENST00000496568.1_5'Flank|MIR191_ENST00000384873.1_RNA|NDUFAF3_ENST00000326912.4_Missense_Mutation_p.S28P	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3	85					mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						GCTCCCGCACTCGGTGGTGCA	0.622																																						.											0													24.0	23.0	24.0					3																	49059954		2203	4300	6503	SO:0001583	missense	25915				CCDS2784.1, CCDS2785.1	3p21.31	2012-10-12	2012-05-08	2009-03-18	ENSG00000178057	ENSG00000178057		"""Mitochondrial respiratory chain complex assembly factors"""	29918	protein-coding gene	gene with protein product		612911	"""chromosome 3 open reading frame 60"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3"""	C3orf60		12653254, 9349717	Standard	NM_199069		Approved	MGC10527, DKFZP564J0123, E3-3, 2P1	uc003cvq.3	Q9BU61	OTTHUMG00000156773	ENST00000326925.6:c.253T>C	3.37:g.49059954T>C	ENSP00000323076:p.Ser85Pro	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000326925.6	37	CCDS2784.1	.	.	.	.	.	.	.	.	.	.	T	15.91	2.971238	0.53614	.	.	ENSG00000178057	ENST00000326912;ENST00000326925;ENST00000395458;ENST00000451378	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	5.37	2.83	0.33086	.	0.113452	0.64402	D	0.000016	T	0.81564	0.4849	M	0.78049	2.395	0.35697	D	0.815333	P	0.45240	0.854	P	0.54026	0.74	T	0.81280	-0.1004	10	0.46703	T	0.11	-13.547	5.6228	0.17467	0.3845:0.0:0.2401:0.3755	.	85	Q9BU61	NDUF3_HUMAN	P	28;85;28;28	ENSP00000323003:S28P;ENSP00000323076:S85P;ENSP00000378843:S28P;ENSP00000402465:S28P	ENSP00000323003:S28P	S	+	1	0	NDUFAF3	49034958	0.993000	0.37304	0.465000	0.27155	0.082000	0.17680	2.759000	0.47573	0.282000	0.22254	0.482000	0.46254	TCG		0.622	NDUFAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345683.2	NM_199069	
DNAH12	201625	broad.mit.edu	37	3	57431084	57431084	+	Silent	SNP	G	G	T			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr3:57431084G>T	ENST00000351747.2	-	28	4353	c.4173C>A	c.(4171-4173)ctC>ctA	p.L1391L		NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	1391	AAA 1. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						CGTAAGAGTAGAGGGAGATTT	0.363																																						.											0													55.0	50.0	51.0					3																	57431084		692	1591	2283	SO:0001819	synonymous_variant	201625			U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"""Axonemal dyneins"""	2943	protein-coding gene	gene with protein product		603340	"""dynein, axonemal, heavy polypeptide 12"", ""dynein heavy chain domain 2"", ""dynein heavy domain 2"", ""dynein, axonemal, heavy chain 12-like"", ""dynein, axonemal, heavy chain 7-like"""	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.4173C>A	3.37:g.57431084G>T		Somatic		WXS	Illumina HiSeq	Phase_I	A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Silent	SNP	ENST00000351747.2	37																																																																																					0.363	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178504	
FAM13A	10144	broad.mit.edu;mdanderson.org;bcgsc.ca	37	4	89668864	89668864	+	Missense_Mutation	SNP	G	G	T			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr4:89668864G>T	ENST00000264344.5	-	18	2507	c.2300C>A	c.(2299-2301)cCc>cAc	p.P767H	FAM13A_ENST00000511976.1_Missense_Mutation_p.P353H|FAM13A_ENST00000508369.1_Missense_Mutation_p.P441H|FAM13A_ENST00000503556.1_Missense_Mutation_p.P427H|FAM13A_ENST00000395002.2_Missense_Mutation_p.P441H|FAM13A_ENST00000513837.1_Missense_Mutation_p.P413H	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	767					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						TTCAACACTGGGCTTTATTGC	0.493																																						.											0													156.0	177.0	170.0					4																	89668864		2203	4300	6503	SO:0001583	missense	10144			AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.2300C>A	4.37:g.89668864G>T	ENSP00000264344:p.Pro767His	Somatic		WXS	Illumina HiSeq	Phase_I	B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Missense_Mutation	SNP	ENST00000264344.5	37	CCDS34029.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.553406	0.45487	.	.	ENSG00000138640	ENST00000395002;ENST00000264344;ENST00000503556;ENST00000511976;ENST00000508369;ENST00000513837	T;T;T;T;T;T	0.57107	0.42;1.73;1.04;1.1;1.04;1.05	5.26	4.43	0.53597	.	0.055321	0.64402	D	0.000001	T	0.70605	0.3243	M	0.71581	2.175	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.997;0.999;0.998;0.999;0.996;0.997	T	0.74858	-0.3521	10	0.87932	D	0	.	13.9499	0.64111	0.0724:0.0:0.9276:0.0	.	413;353;767;441;427;441	O94988-6;E9PGM7;O94988;O94988-3;O94988-5;O94988-1	.;.;FA13A_HUMAN;.;.;.	H	441;767;427;353;441;413	ENSP00000378450:P441H;ENSP00000264344:P767H;ENSP00000427189:P427H;ENSP00000421914:P353H;ENSP00000421562:P441H;ENSP00000423252:P413H	ENSP00000264344:P767H	P	-	2	0	FAM13A	89887887	1.000000	0.71417	0.212000	0.23672	0.022000	0.10575	7.660000	0.83776	1.457000	0.47850	0.655000	0.94253	CCC		0.493	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1		
PCDHB3	56132	broad.mit.edu	37	5	140480872	140480872	+	Silent	SNP	C	C	T	rs148121148		TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr5:140480872C>T	ENST00000231130.2	+	1	639	c.639C>T	c.(637-639)acC>acT	p.T213T	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	213	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAACGCTCACCGCGCTGGACG	0.562																																						.											0								C		1,4405	2.1+/-5.4	0,1,2202	51.0	51.0	51.0		639	-10.2	0.0	5	dbSNP_134	51	0,8600		0,0,4300	no	coding-synonymous	PCDHB3	NM_018937.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		213/797	140480872	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	56132			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.639C>T	5.37:g.140480872C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2R8P2	Silent	SNP	ENST00000231130.2	37	CCDS4245.1																																																																																				0.562	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937	
BTNL8	79908	broad.mit.edu;bcgsc.ca	37	5	180377222	180377222	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr5:180377222G>A	ENST00000340184.4	+	8	1387	c.1181G>A	c.(1180-1182)cGt>cAt	p.R394H	BTNL8_ENST00000505126.1_Missense_Mutation_p.R187H|BTNL8_ENST00000511704.1_Missense_Mutation_p.R278H|BTNL8_ENST00000508408.1_3'UTR|BTNL8_ENST00000400707.3_Missense_Mutation_p.R269H|BTNL8_ENST00000533815.2_Missense_Mutation_p.R210H|BTNL8_ENST00000231229.4_3'UTR	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	394	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTAAATCCCCGTTTTATCAGC	0.478																																						.											0													136.0	120.0	125.0					5																	180377222		1976	3815	5791	SO:0001583	missense	79908			AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.1181G>A	5.37:g.180377222G>A	ENSP00000342197:p.Arg394His	Somatic		WXS	Illumina HiSeq	Phase_I	A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Missense_Mutation	SNP	ENST00000340184.4	37	CCDS43413.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.862774	0.00552	.	.	ENSG00000113303	ENST00000340184;ENST00000400707;ENST00000511704;ENST00000505126;ENST00000533815	T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43	1.85	0.484	0.16825	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.50103	0.1596	L	0.46741	1.465	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.32534	-0.9903	9	0.09084	T	0.74	.	4.9321	0.13923	0.8194:0.0:0.1806:0.0	.	269;278;394	E9PG07;E9PEF6;Q6UX41	.;.;BTNL8_HUMAN	H	394;269;278;187;210	ENSP00000342197:R394H;ENSP00000383543:R269H;ENSP00000425207:R278H;ENSP00000427441:R187H;ENSP00000435098:R210H	ENSP00000342197:R394H	R	+	2	0	BTNL8	180309828	0.000000	0.05858	0.003000	0.11579	0.007000	0.05969	-0.081000	0.11321	0.020000	0.15106	-0.634000	0.03986	CGT		0.478	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850	
SERINC1	57515	broad.mit.edu	37	6	122768108	122768108	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr6:122768108A>G	ENST00000339697.4	-	9	1121	c.1037T>C	c.(1036-1038)cTa>cCa	p.L346P		NM_020755.2	NP_065806.1	Q9NRX5	SERC1_HUMAN	serine incorporator 1	346					L-serine transport (GO:0015825)|phosphatidylserine metabolic process (GO:0006658)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		ATCACTTGTTAGAGTCAGTTT	0.368																																						.											0													104.0	97.0	99.0					6																	122768108		2203	4300	6503	SO:0001583	missense	57515			AF087902	CCDS5125.1	6q22.32	2006-02-09	2005-10-14	2005-10-14	ENSG00000111897	ENSG00000111897			13464	protein-coding gene	gene with protein product		614548	"""tumor differentially expressed 2"""	TDE2		10637174	Standard	NM_020755		Approved	TMS-2, TDE1L, KIAA1253	uc003pyy.1	Q9NRX5	OTTHUMG00000015487	ENST00000339697.4:c.1037T>C	6.37:g.122768108A>G	ENSP00000342962:p.Leu346Pro	Somatic		WXS	Illumina HiSeq	Phase_I	B3KY69|E1P565|O75655|Q7Z2F5|Q8TAG1|Q9NTH8|Q9ULG7	Missense_Mutation	SNP	ENST00000339697.4	37	CCDS5125.1	.	.	.	.	.	.	.	.	.	.	A	16.45	3.126057	0.56721	.	.	ENSG00000111897	ENST00000339697;ENST00000368454	T;T	0.19250	2.16;2.16	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.35941	0.0949	M	0.81802	2.56	0.80722	D	1	D	0.60575	0.988	D	0.68943	0.961	T	0.17077	-1.0381	10	0.24483	T	0.36	-9.7399	15.4194	0.75000	1.0:0.0:0.0:0.0	.	346	Q9NRX5	SERC1_HUMAN	P	346	ENSP00000342962:L346P;ENSP00000357439:L346P	ENSP00000342962:L346P	L	-	2	0	SERINC1	122809807	1.000000	0.71417	0.962000	0.40283	0.891000	0.51852	7.436000	0.80404	2.048000	0.60808	0.528000	0.53228	CTA		0.368	SERINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042031.2	NM_020755	
WIPF3	644150	broad.mit.edu	37	7	29924145	29924146	+	Frame_Shift_Ins	INS	-	-	C	rs572323909		TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr7:29924145_29924146insC	ENST00000409290.1	+	4	1035_1036	c.1035_1036insC	c.(1036-1038)cccfs	p.P346fs	WIPF3_ENST00000242140.5_Frame_Shift_Ins_p.P346fs|WIPF3_ENST00000409123.1_Frame_Shift_Ins_p.P346fs	NM_001080529.2	NP_001073998.2	A6NGB9	WIPF3_HUMAN	WAS/WASL interacting protein family, member 3	346					cell differentiation (GO:0030154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)				breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						CGCAGGCCTTGCCCGCCCCGCC	0.673																																						.											0																																										SO:0001589	frameshift_variant	644150			AK094250	CCDS56472.1	7p15.1	2006-10-12			ENSG00000122574	ENSG00000122574			22004	protein-coding gene	gene with protein product		612432					Standard	NM_001080529		Approved	CR16, FLJ36931	uc022aaz.1	A6NGB9	OTTHUMG00000152761	ENST00000409290.1:c.1038dupC	7.37:g.29924148_29924148dupC	ENSP00000386878:p.Pro346fs	Somatic		WXS	Illumina HiSeq	Phase_I	B8ZZV2	Frame_Shift_Ins	INS	ENST00000409290.1	37	CCDS56472.1																																																																																				0.673	WIPF3-002	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327705.1		
GLP1R	2740	ucsc.edu	37	6	39033549	39033549	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr6:39033549T>C	ENST00000373256.4	+	4	389	c.346T>C	c.(346-348)Tcc>Ccc	p.S116P		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	116					activation of adenylate cyclase activity (GO:0007190)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|learning or memory (GO:0007611)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucagon receptor activity (GO:0004967)|transmembrane signaling receptor activity (GO:0004888)			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)|Liraglutide(DB06655)	GAAGGACAACTCCAGCCTGCC	0.652																																						.											0													44.0	40.0	41.0					6																	39033549		2201	4299	6500	SO:0001583	missense	2740				CCDS4839.1	6p21	2012-08-10			ENSG00000112164	ENSG00000112164		"""GPCR / Class B : Glucagon receptors"""	4324	protein-coding gene	gene with protein product		138032					Standard	NM_002062		Approved		uc003ooj.4	P43220	OTTHUMG00000014638	ENST00000373256.4:c.346T>C	6.37:g.39033549T>C	ENSP00000362353:p.Ser116Pro	Somatic		WXS	Illumina HiSeq	Phase_I	Q2M229|Q99669	Missense_Mutation	SNP	ENST00000373256.4	37	CCDS4839.1	.	.	.	.	.	.	.	.	.	.	T	16.24	3.067526	0.55539	.	.	ENSG00000112164	ENST00000373256	T	0.53423	0.62	4.86	3.62	0.41486	GPCR, family 2, extracellular hormone receptor domain (3);	0.212975	0.33534	N	0.004804	T	0.34629	0.0904	L	0.57536	1.79	0.40686	D	0.982358	P	0.44344	0.833	P	0.46144	0.505	T	0.18903	-1.0322	10	0.40728	T	0.16	.	9.333	0.38034	0.0:0.0:0.1803:0.8197	.	116	P43220	GLP1R_HUMAN	P	116	ENSP00000362353:S116P	ENSP00000362353:S116P	S	+	1	0	GLP1R	39141527	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.890000	0.48609	1.841000	0.53522	0.374000	0.22700	TCC		0.652	GLP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040443.1		
GPR155	151556	ucsc.edu	37	2	175346286	175346286	+	Silent	SNP	T	T	C			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr2:175346286T>C	ENST00000392552.2	-	2	637	c.399A>G	c.(397-399)aaA>aaG	p.K133K	GPR155_ENST00000392551.2_Silent_p.K133K|GPR155_ENST00000295500.4_Silent_p.K133K	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	133					cognition (GO:0050890)|intracellular signal transduction (GO:0035556)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						ATAGTCCAGCTTTGCTAAATC	0.323																																						.											0													151.0	163.0	159.0					2																	175346286		2203	4299	6502	SO:0001819	synonymous_variant	151556			AY255528	CCDS2259.1, CCDS74605.1	2q31.1	2012-04-10			ENSG00000163328	ENSG00000163328			22951	protein-coding gene	gene with protein product						12679517	Standard	NM_001033045		Approved	DEPDC3, DEP.7, FLJ31819, PGR22	uc002uiu.4	Q7Z3F1	OTTHUMG00000132336	ENST00000392552.2:c.399A>G	2.37:g.175346286T>C		Somatic		WXS	Illumina HiSeq	Phase_I	B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6	Silent	SNP	ENST00000392552.2	37	CCDS2259.1																																																																																				0.323	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255455.1	NM_152529	
KIF17	57576	ucsc.edu	37	1	20998493	20998493	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr1:20998493T>C	ENST00000247986.2	-	12	2970	c.2660A>G	c.(2659-2661)gAc>gGc	p.D887G	KIF17_ENST00000375044.1_Missense_Mutation_p.D787G|KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000400463.3_Missense_Mutation_p.D887G			Q9P2E2	KIF17_HUMAN	kinesin family member 17	887					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GTTATCTTCGTCCCAGCAGGA	0.582																																						.											0													123.0	112.0	116.0					1																	20998493		2203	4300	6503	SO:0001583	missense	57576			AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.2660A>G	1.37:g.20998493T>C	ENSP00000247986:p.Asp887Gly	Somatic		WXS	Illumina HiSeq	Phase_I	A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Missense_Mutation	SNP	ENST00000247986.2	37	CCDS213.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.863900	0.91511	.	.	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986;ENST00000321188	T;T;T	0.75821	-0.97;-0.78;-0.79	5.64	5.64	0.86602	.	0.000000	0.33515	U	0.004839	D	0.85261	0.5656	M	0.70595	2.14	0.45883	D	0.998733	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.996	D	0.86601	0.1866	10	0.66056	D	0.02	.	15.3326	0.74226	0.0:0.0:0.0:1.0	.	887;887;887	B0I1R5;Q9P2E2-3;Q9P2E2	.;.;KIF17_HUMAN	G	787;887;887;268	ENSP00000364184:D787G;ENSP00000383311:D887G;ENSP00000247986:D887G	ENSP00000247986:D887G	D	-	2	0	KIF17	20871080	1.000000	0.71417	0.996000	0.52242	0.973000	0.67179	7.278000	0.78587	2.279000	0.76181	0.459000	0.35465	GAC		0.582	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816	
ZNF468	90333	ucsc.edu	37	19	53352380	53352380	+	Silent	SNP	C	C	T	rs568961044	byFrequency	TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr19:53352380C>T	ENST00000595646.1	-	3	222	c.102G>A	c.(100-102)agG>agA	p.R34R	ZNF468_ENST00000243639.4_Silent_p.R34R|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000390651.4_5'UTR|ZNF468_ENST00000396409.4_5'UTR			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	34	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(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		GCATCACGTCCCTGTATAAAG	0.473													-|||	6	0.00119808	0.0008	0.0	5008	,	,		18410	0.001		0.004	False		,,,				2504	0.0					.											0													147.0	149.0	148.0					19																	53352380		2203	4300	6503	SO:0001819	synonymous_variant	90333			AK023558	CCDS33094.1, CCDS62781.1	19q13.41	2013-01-08				ENSG00000204604		"""Zinc fingers, C2H2-type"", ""-"""	33105	protein-coding gene	gene with protein product						16144304	Standard	NM_001277120		Approved		uc002qaf.3	Q5VIY5		ENST00000595646.1:c.102G>A	19.37:g.53352380C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Silent	SNP	ENST00000595646.1	37	CCDS33094.1																																																																																				0.473	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463098.1	NM_001008801	
ADAMTS7	11173	mdanderson.org	37	15	79058090	79058090	+	Missense_Mutation	SNP	A	A	G	rs2929158	byFrequency	TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr15:79058090A>G	ENST00000388820.4	-	19	4373	c.4163T>C	c.(4162-4164)gTc>gCc	p.V1388A	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1388					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GGTCTCAGGGACTCTGTGGCT	0.687																																						.											0													22.0	29.0	26.0					15																	79058090		2166	4248	6414	SO:0001583	missense	11173			AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.4163T>C	15.37:g.79058090A>G	ENSP00000373472:p.Val1388Ala	Somatic		WXS	Illumina HiSeq	Phase_I	Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	CCDS32303.1	249	0.11401098901098901	2	0.0040650406504065045	43	0.11878453038674033	198	0.34615384615384615	6	0.0079155672823219	a	0.637	-0.814774	0.02776	.	.	ENSG00000136378	ENST00000388820	T	0.58506	0.33	3.65	-3.31	0.04988	.	0.591257	0.16562	N	0.209003	T	0.00012	0.0000	N	0.02916	-0.46	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.35724	-0.9777	9	0.15066	T	0.55	.	0.8256	0.01120	0.1904:0.2419:0.3106:0.2571	rs2929158	1388	Q9UKP4	ATS7_HUMAN	A	1388	ENSP00000373472:V1388A	ENSP00000373472:V1388A	V	-	2	0	ADAMTS7	76845145	0.000000	0.05858	0.052000	0.19188	0.008000	0.06430	-1.706000	0.01895	-0.534000	0.06315	-2.103000	0.00360	GTC		0.687	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272	
ARL16	339231	mdanderson.org	37	17	79650828	79650828	+	Missense_Mutation	SNP	T	T	G	rs8066889	byFrequency	TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr17:79650828T>G	ENST00000397498.4	-	1	126	c.28A>C	c.(28-30)Agc>Cgc	p.S10R	ARL16_ENST00000574938.1_5'Flank|HGS_ENST00000329138.4_5'Flank|ARL16_ENST00000573392.1_5'Flank|ARL16_ENST00000570561.1_5'Flank|ARL16_ENST00000576135.1_5'Flank	NM_001040025.1	NP_001035114.1	Q0P5N6	ARL16_HUMAN	ADP-ribosylation factor-like 16	10			S -> R (in dbSNP:rs8066889).		small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			central_nervous_system(1)|endometrium(1)|lung(4)|skin(1)	7	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GCGCCGCGGCTCAAGGCCCGC	0.632													G|||	1243	0.248203	0.3578	0.1556	5008	,	,		12437	0.2292		0.2604	False		,,,				2504	0.1728					.											0								G	ARG/SER	1280,2528		237,806,861	14.0	17.0	16.0		28	0.8	0.0	17	dbSNP_116	16	1807,6371		212,1383,2494	yes	missense	ARL16	NM_001040025.1	110	449,2189,3355	GG,GT,TT		22.0959,33.6134,25.755	benign	10/198	79650828	3087,8899	1904	4089	5993	SO:0001583	missense	339231				CCDS45813.1	17q25.3	2014-05-09				ENSG00000214087		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	27902	protein-coding gene	gene with protein product						12477932	Standard	NM_001040025		Approved		uc002kbf.3	Q0P5N6		ENST00000397498.4:c.28A>C	17.37:g.79650828T>G	ENSP00000380635:p.Ser10Arg	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000397498.4	37	CCDS45813.1	573	0.2623626373626374	193	0.39227642276422764	62	0.1712707182320442	135	0.23601398601398602	183	0.24142480211081793	G	10.73	1.431804	0.25813	0.336134	0.220959	ENSG00000214087	ENST00000397498	T	0.70749	-0.51	4.35	0.805	0.18703	.	0.727362	0.09205	U	0.834153	T	0.00012	0.0000	L	0.34521	1.04	0.51012	P	9.199999999998099E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.26224	-1.0109	9	0.72032	D	0.01	.	8.4458	0.32841	0.0:0.133:0.4606:0.4064	rs8066889;rs59418595;rs8066889	10	Q0P5N6	ARL16_HUMAN	R	10	ENSP00000380635:S10R	ENSP00000380635:S10R	S	-	1	0	ARL16	77261233	0.004000	0.15560	0.003000	0.11579	0.002000	0.02628	0.878000	0.28126	0.263000	0.21812	-0.121000	0.15023	AGC		0.632	ARL16-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440514.1	XM_290777	
CLEC18B	497190	mdanderson.org	37	16	74452114	74452114	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr16:74452114A>G	ENST00000339953.5	-	3	420	c.299T>C	c.(298-300)cTg>cCg	p.L100P		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	100	SCP.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GGTGCGCCACAGGCCGGACGC	0.657																																						.											0													17.0	19.0	18.0					16																	74452114		2004	4114	6118	SO:0001583	missense	497190			AY358373	CCDS32484.1	16q22.3	2010-04-27	2009-03-10	2009-03-10		ENSG00000140839		"""C-type lectin domain containing"""	33849	protein-coding gene	gene with protein product							Standard	NM_001011880		Approved		uc002fct.3	Q6UXF7		ENST00000339953.5:c.299T>C	16.37:g.74452114A>G	ENSP00000341051:p.Leu100Pro	Somatic		WXS	Illumina HiSeq	Phase_I	B4DF90	Missense_Mutation	SNP	ENST00000339953.5	37	CCDS32484.1	.	.	.	.	.	.	.	.	.	.	N	3.509	-0.100105	0.07010	.	.	ENSG00000140839	ENST00000429489;ENST00000339953;ENST00000268492	T	0.07444	3.19	3.27	-0.271	0.12922	CAP domain (3);	0.580703	0.17352	N	0.177375	T	0.02418	0.0074	N	0.04090	-0.28	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.42120	-0.9470	10	0.14252	T	0.57	.	0.6793	0.00872	0.2475:0.184:0.3812:0.1874	.	100;100	C9JSV1;Q6UXF7	.;CL18B_HUMAN	P	100	ENSP00000341051:L100P	ENSP00000268492:L100P	L	-	2	0	CLEC18B	73009615	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.068000	0.11561	0.104000	0.17725	-1.160000	0.01791	CTG		0.657	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434697.1	NM_001011880	
MANEA	79694	mdanderson.org	37	6	96054262	96054262	+	Missense_Mutation	SNP	G	G	A	rs75510775	byFrequency	TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr6:96054262G>A	ENST00000358812.4	+	5	1504	c.1370G>A	c.(1369-1371)cGc>cAc	p.R457H		NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	457	Catalytic. {ECO:0000305}.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		GCATTAGATCGCCAGCTGCCT	0.348													A|||	171	0.0341454	0.0643	0.0375	5008	,	,		14821	0.0		0.0517	False		,,,				2504	0.0082					.											0								A	HIS/ARG	282,4124	791.0+/-415.1	8,266,1929	44.0	45.0	44.0		1370	4.2	0.1	6	dbSNP_131	44	410,8188	797.4+/-407.4	8,394,3897	yes	missense	MANEA	NM_024641.3	29	16,660,5826	AA,AG,GG		4.7686,6.4004,5.3214	benign	457/463	96054262	692,12312	2203	4299	6502	SO:0001583	missense	79694			AK022900	CCDS5032.1	6q16.2	2008-02-05			ENSG00000172469	ENSG00000172469			21072	protein-coding gene	gene with protein product		612327					Standard	NM_024641		Approved	FLJ12838, mandaselin	uc003poo.2	Q5SRI9	OTTHUMG00000016296	ENST00000358812.4:c.1370G>A	6.37:g.96054262G>A	ENSP00000351669:p.Arg457His	Somatic		WXS	Illumina HiSeq	Phase_I	A6H8M6|Q5SRJ0|Q6MZV0|Q70JE9|Q7Z3V7|Q8WWX5|Q9H9D2	Missense_Mutation	SNP	ENST00000358812.4	37	CCDS5032.1	81	0.03708791208791209	31	0.06300813008130081	16	0.04419889502762431	0	0.0	34	0.044854881266490766	A	0.124	-1.122266	0.01785	0.064004	0.047686	ENSG00000172469	ENST00000358812	.	.	.	5.36	4.19	0.49359	.	0.587085	0.16595	N	0.207606	T	0.05868	0.0153	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35748	-0.9776	9	0.30854	T	0.27	-1.1404	5.6151	0.17426	0.7418:0.1717:0.0866:0.0	.	457	Q5SRI9	MANEA_HUMAN	H	457	.	ENSP00000351669:R457H	R	+	2	0	MANEA	96160983	0.001000	0.12720	0.092000	0.20876	0.063000	0.16089	1.056000	0.30480	0.475000	0.27415	-0.254000	0.11334	CGC		0.348	MANEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043644.1	NM_024641	
MUC16	94025	mdanderson.org	37	19	9012840	9012840	+	Silent	SNP	G	G	A	rs4992692		TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr19:9012840G>A	ENST00000397910.4	-	34	38807	c.38604C>T	c.(38602-38604)taC>taT	p.Y12868Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12870	SEA 6. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTCCTCCTCGTACTGCAGGT	0.582																																						.											0													248.0	208.0	221.0					19																	9012840		2025	4191	6216	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.38604C>T	19.37:g.9012840G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.582	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC4	4585	mdanderson.org	37	3	195507817	195507817	+	Missense_Mutation	SNP	A	A	G	rs200993341		TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr3:195507817A>G	ENST00000463781.3	-	2	11093	c.10634T>C	c.(10633-10635)gTa>gCa	p.V3545A	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.V3545A|MUC4_ENST00000349607.4_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)		ACCTGTGGATACTGAGGAAAG	0.602																																						.											0													23.0	22.0	23.0					3																	195507817		682	1577	2259	SO:0001583	missense	4585			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.10634T>C	3.37:g.195507817A>G	ENSP00000417498:p.Val3545Ala	Somatic		WXS	Illumina HiSeq	Phase_I	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	.	.	.	.	.	.	.	.	.	.	a	1.383	-0.582833	0.03827	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.49432	0.98;0.78	0.743	-1.49	0.08718	.	0.435754	0.11199	U	0.589055	T	0.16041	0.0386	N	0.02539	-0.55	0.09310	N	1	B	0.26512	0.151	B	0.14023	0.01	T	0.11867	-1.0570	9	.	.	.	.	4.1685	0.10318	0.735:0.0:0.265:0.0	.	3417	E7ESK3	.	A	3545	ENSP00000417498:V3545A;ENSP00000420243:V3545A	.	V	-	2	0	MUC4	196992596	0.000000	0.05858	0.007000	0.13788	0.007000	0.05969	-2.247000	0.01190	-1.995000	0.00971	-2.001000	0.00444	GTA		0.602	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC6	4588	mdanderson.org	37	11	1018459	1018459	+	Missense_Mutation	SNP	G	G	T	rs199760270		TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr11:1018459G>T	ENST00000421673.2	-	31	4392	c.4342C>A	c.(4342-4344)Cca>Aca	p.P1448T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1448	Pro-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GAGAAAGGTGGAACGTGAGTG	0.562																																						.											0													301.0	305.0	304.0					11																	1018459		2193	4286	6479	SO:0001583	missense	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.4342C>A	11.37:g.1018459G>T	ENSP00000406861:p.Pro1448Thr	Somatic		WXS	Illumina HiSeq	Phase_I	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	6.967	0.548385	0.13312	.	.	ENSG00000184956	ENST00000421673	T	0.28069	1.63	2.52	0.443	0.16587	.	.	.	.	.	T	0.26376	0.0644	M	0.64404	1.975	0.09310	N	1	P	0.37330	0.59	B	0.34138	0.176	T	0.15037	-1.0451	9	0.56958	D	0.05	.	5.5406	0.17036	0.132:0.2038:0.6642:0.0	.	1448	Q6W4X9	MUC6_HUMAN	T	1448	ENSP00000406861:P1448T	ENSP00000406861:P1448T	P	-	1	0	MUC6	1008459	0.009000	0.17119	0.001000	0.08648	0.009000	0.06853	0.061000	0.14366	-0.023000	0.13963	0.306000	0.20318	CCA		0.562	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540	
MUC6	4588	mdanderson.org	37	11	1018473	1018473	+	Missense_Mutation	SNP	A	A	T	rs112923701		TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr11:1018473A>T	ENST00000421673.2	-	31	4378	c.4328T>A	c.(4327-4329)cTt>cAt	p.L1443H		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1443	Pro-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTGAGTGGGAAGTGTGGTCTC	0.572																																						.											0													284.0	287.0	286.0					11																	1018473		2187	4280	6467	SO:0001583	missense	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.4328T>A	11.37:g.1018473A>T	ENSP00000406861:p.Leu1443His	Somatic		WXS	Illumina HiSeq	Phase_I	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	A	2.872	-0.233789	0.05983	.	.	ENSG00000184956	ENST00000421673	T	0.25414	1.8	1.86	-0.708	0.11241	.	.	.	.	.	T	0.30603	0.0770	L	0.61218	1.895	0.09310	N	1	D	0.63880	0.993	P	0.52881	0.712	T	0.15752	-1.0426	9	0.56958	D	0.05	.	2.8343	0.05509	0.4089:0.2608:0.3303:0.0	.	1443	Q6W4X9	MUC6_HUMAN	H	1443	ENSP00000406861:L1443H	ENSP00000406861:L1443H	L	-	2	0	MUC6	1008473	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-1.485000	0.02314	-0.173000	0.10761	0.254000	0.18369	CTT		0.572	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540	
MXD3	83463	mdanderson.org	37	5	176734855	176734855	+	Silent	SNP	G	G	C	rs4568379	byFrequency	TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr5:176734855G>C	ENST00000439742.2	-	5	910	c.432C>G	c.(430-432)gcC>gcG	p.A144A	MXD3_ENST00000423571.2_Silent_p.A144A|MXD3_ENST00000427908.2_Silent_p.A144A|MXD3_ENST00000513063.1_Silent_p.A144A	NM_031300.3	NP_112590.1	Q9BW11	MAD3_HUMAN	MAX dimerization protein 3	144					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)					all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTCCCGCTCGGCCGCCCCTG	0.697													G|||	1039	0.207468	0.3555	0.1686	5008	,	,		11663	0.0258		0.2276	False		,,,				2504	0.2014					.											0								G	,	1112,2786		174,764,1011	8.0	10.0	10.0		432,432	-8.5	0.0	5	dbSNP_111	10	1622,6156		180,1262,2447	no	coding-synonymous,coding-synonymous	MXD3	NM_001142935.1,NM_031300.3	,	354,2026,3458	CC,CG,GG		20.8537,28.5274,23.4156	,	144/194,144/207	176734855	2734,8942	1949	3889	5838	SO:0001819	synonymous_variant	83463			BC000745	CCDS4416.1, CCDS47347.1	5q35.3	2013-03-20			ENSG00000213347	ENSG00000213347		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	14008	protein-coding gene	gene with protein product		609450					Standard	NM_031300		Approved	MAD3, bHLHc13	uc003mgb.2	Q9BW11	OTTHUMG00000130854	ENST00000439742.2:c.432C>G	5.37:g.176734855G>C		Somatic		WXS	Illumina HiSeq	Phase_I	B4E0J1|Q53HK1|Q7Z4Y0|Q8NDJ7|Q96ME3	Silent	SNP	ENST00000439742.2	37	CCDS4416.1																																																																																				0.697	MXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253427.1		
OR2L2	26246	mdanderson.org	37	1	248202412	248202412	+	Silent	SNP	C	C	T			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr1:248202412C>T	ENST00000366479.2	+	1	939	c.843C>T	c.(841-843)acC>acT	p.T281T	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	281						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CCATCCTCACCCCAATGCTCA	0.468																																						.											0													98.0	93.0	95.0					1																	248202412		2203	4300	6503	SO:0001819	synonymous_variant	26246			X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.843C>T	1.37:g.248202412C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q2M3T5	Silent	SNP	ENST00000366479.2	37	CCDS31103.1																																																																																				0.468	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686	
SIGLEC10	89790	mdanderson.org	37	19	51919235	51919235	+	Missense_Mutation	SNP	T	T	C	rs201089294	byFrequency	TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr19:51919235T>C	ENST00000339313.5	-	5	1057	c.941A>G	c.(940-942)aAg>aGg	p.K314R	SIGLEC10_ENST00000356298.5_Missense_Mutation_p.K314R|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.K231R|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.K256R|SIGLEC10_ENST00000525998.1_Intron|SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.K266R|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.K256R|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000353836.5_Missense_Mutation_p.K314R			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	314	Ig-like C2-type 2.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		ATCCCCAGCCTTCACCCCGGG	0.672													t|||	19	0.00379393	0.0015	0.0058	5008	,	,		16797	0.0		0.0089	False		,,,				2504	0.0041					.											0													39.0	44.0	42.0					19																	51919235		2203	4300	6503	SO:0001583	missense	89790			AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15620	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 10 Ig-like lectin 7"", ""siglec-like gene 2"""	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.941A>G	19.37:g.51919235T>C	ENSP00000345243:p.Lys314Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Missense_Mutation	SNP	ENST00000339313.5	37	CCDS12832.1	.	.	.	.	.	.	.	.	.	.	.	9.301	1.052988	0.19907	.	.	ENSG00000142512	ENST00000353836;ENST00000432469;ENST00000356298;ENST00000441969;ENST00000439889;ENST00000436984;ENST00000339313;ENST00000529627	T;T;T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32	4.37	-1.6	0.08426	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.681650	0.03351	N	0.196151	T	0.58337	0.2115	L	0.37507	1.11	0.09310	N	1	B;P;P;B;B;B	0.36125	0.213;0.538;0.482;0.178;0.218;0.395	B;P;B;B;B;B	0.44921	0.346;0.464;0.333;0.234;0.25;0.208	T	0.39418	-0.9615	10	0.27082	T	0.32	.	0.8962	0.01264	0.1846:0.1837:0.3756:0.2561	.	266;314;314;256;256;314	C9JM10;B7ZL04;Q96LC7-2;Q96LC7-6;Q96LC7-3;Q96LC7	.;.;.;.;.;SIG10_HUMAN	R	314;231;314;256;256;266;314;128	ENSP00000342389:K314R;ENSP00000396742:K231R;ENSP00000348646:K314R;ENSP00000408387:K256R;ENSP00000389132:K256R;ENSP00000414324:K266R;ENSP00000345243:K314R;ENSP00000435281:K128R	ENSP00000345243:K314R	K	-	2	0	SIGLEC10	56611047	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	-0.007000	0.12810	-0.440000	0.07211	0.260000	0.18958	AAG		0.672	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130	
SIGLEC10	89790	mdanderson.org	37	19	51919243	51919243	+	Silent	SNP	G	G	A	rs199660336	byFrequency	TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr19:51919243G>A	ENST00000339313.5	-	5	1049	c.933C>T	c.(931-933)ccC>ccT	p.P311P	SIGLEC10_ENST00000356298.5_Silent_p.P311P|SIGLEC10_ENST00000432469.2_Silent_p.P228P|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000441969.3_Silent_p.P253P|SIGLEC10_ENST00000525998.1_Intron|SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000436984.2_Silent_p.P263P|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000439889.2_Silent_p.P253P|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000353836.5_Silent_p.P311P			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	311	Ig-like C2-type 2.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CCTTCACCCCGGGCAGCTCCA	0.667																																						.											0													34.0	39.0	37.0					19																	51919243		2203	4300	6503	SO:0001819	synonymous_variant	89790			AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15620	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 10 Ig-like lectin 7"", ""siglec-like gene 2"""	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.933C>T	19.37:g.51919243G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Silent	SNP	ENST00000339313.5	37	CCDS12832.1																																																																																				0.667	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130	
SLC39A4	55630	mdanderson.org	37	8	145641564	145641564	+	Missense_Mutation	SNP	T	T	G	rs2280839	byFrequency	TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr8:145641564T>G	ENST00000276833.5	-	1	332	c.29A>C	c.(28-30)gAa>gCa	p.E10A	SLC39A4_ENST00000301305.3_Intron|SLC39A4_ENST00000531013.1_5'Flank	NM_001280557.1|NM_017767.2	NP_001267486.1|NP_060237	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	0					cellular response to zinc ion starvation (GO:0034224)|cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			AGGGCCTGTTTCCCTTTCAAG	0.662													T|||	2174	0.434105	0.4561	0.4135	5008	,	,		15139	0.38		0.5268	False		,,,				2504	0.3793					.											0								T	ALA/GLU,	1914,2120		462,990,565	27.0	34.0	32.0		29,	-3.1	0.0	8	dbSNP_100	32	4429,3911		1205,2019,946	yes	missense,intron	SLC39A4	NM_017767.2,NM_130849.2	107,	1667,3009,1511	GG,GT,TT		46.8945,47.4467,48.7393	,	10/623,	145641564	6343,6031	2017	4170	6187	SO:0001583	missense	55630			AK025537	CCDS6424.1, CCDS43782.1	8q24.3	2013-05-22			ENSG00000147804	ENSG00000147804		"""Solute carriers"""	17129	protein-coding gene	gene with protein product		607059	"""acrodermatitis enteropathica, zinc-deficiency type"""	AEZ		12801924, 12659941, 14709598	Standard	NM_017767		Approved	ZIP4, AWMS2	uc003zcq.3	Q6P5W5		ENST00000276833.5:c.29A>C	8.37:g.145641564T>G	ENSP00000276833:p.Glu10Ala	Somatic		WXS	Illumina HiSeq	Phase_I	Q7L5S5|Q9H6T8|Q9NXC4	Missense_Mutation	SNP	ENST00000276833.5	37	CCDS43782.1	1061	0.4858058608058608	242	0.491869918699187	166	0.4585635359116022	238	0.4160839160839161	415	0.5474934036939314	T	13.03	2.114534	0.37339	0.474467	0.531055	ENSG00000147804	ENST00000276833	T	0.61627	0.09	3.0	-3.1	0.05315	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.45396	-0.9264	8	0.87932	D	0	.	5.3	0.15773	0.0:0.5884:0.1949:0.2167	rs2280839;rs61327800;rs2280839	10	A6NDY5	.	A	10	ENSP00000276833:E10A	ENSP00000276833:E10A	E	-	2	0	SLC39A4	145612372	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-0.695000	0.05109	-0.557000	0.06126	0.254000	0.18369	GAA		0.662	SLC39A4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000382687.2		
SPTBN5	51332	mdanderson.org	37	15	42159290	42159290	+	Missense_Mutation	SNP	C	C	T	rs2290553	byFrequency	TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr15:42159290C>T	ENST00000320955.6	-	36	6574	c.6347G>A	c.(6346-6348)cGg>cAg	p.R2116Q	MIR4310_ENST00000582950.1_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2116					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CCGGGGGCGCCGGAGCGTCTT	0.736													c|||	711	0.141973	0.034	0.1671	5008	,	,		14161	0.0446		0.2833	False		,,,				2504	0.2249					.											0								C	GLN/ARG	191,3125		13,165,1480	3.0	4.0	4.0		6242	-4.3	0.0	15	dbSNP_100	4	1708,5692		230,1248,2222	no	missense	SPTBN5	NM_016642.2	43	243,1413,3702	TT,TC,CC		23.0811,5.76,17.7212	possibly-damaging	2081/3640	42159290	1899,8817	1658	3700	5358	SO:0001583	missense	51332			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.6347G>A	15.37:g.42159290C>T	ENSP00000317790:p.Arg2116Gln	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000320955.6	37		308	0.14102564102564102	20	0.04065040650406504	61	0.1685082872928177	19	0.033216783216783216	208	0.27440633245382584	.	9.097	1.003238	0.19121	0.0576	0.230811	ENSG00000137877	ENST00000320955	T	0.47177	0.85	4.61	-4.26	0.03755	.	1.848070	0.02996	N	0.147432	T	0.00012	0.0000	N	0.25647	0.755	0.80722	P	0.0	B	0.25743	0.133	B	0.17098	0.017	T	0.09292	-1.0681	9	0.14252	T	0.57	.	6.4787	0.22051	0.0:0.4092:0.1605:0.4303	rs2290553;rs17736981	2116	Q9NRC6	SPTN5_HUMAN	Q	2116	ENSP00000317790:R2116Q	ENSP00000317790:R2116Q	R	-	2	0	SPTBN5	39946582	0.000000	0.05858	0.000000	0.03702	0.114000	0.19823	-0.487000	0.06505	-0.666000	0.05310	-0.389000	0.06534	CGG		0.736	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642	
TRIOBP	11078	mdanderson.org	37	22	38120429	38120429	+	Silent	SNP	T	T	C	rs6000868	byFrequency	TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr22:38120429T>C	ENST00000406386.3	+	7	2121	c.1866T>C	c.(1864-1866)gaT>gaC	p.D622D		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	622					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCACACGAGATAACCCCAGAA	0.587																																						.											0													124.0	138.0	134.0					22																	38120429		1941	4148	6089	SO:0001819	synonymous_variant	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1866T>C	22.37:g.38120429T>C		Somatic		WXS	Illumina HiSeq	Phase_I	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	CCDS43015.1																																																																																				0.587	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2		
TRPC3	7222	mdanderson.org	37	4	122872719	122872719	+	Silent	SNP	G	G	A	rs1396082	byFrequency	TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr4:122872719G>A	ENST00000379645.3	-	1	190	c.117C>T	c.(115-117)ggC>ggT	p.G39G		NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	0					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CGCCCCTCCAGCCCCGGCGGC	0.751													G|||	1898	0.378994	0.093	0.4193	5008	,	,		7272	0.5179		0.5318	False		,,,				2504	0.4366					.											0													3.0	4.0	4.0					4																	122872719		586	1410	1996	SO:0001819	synonymous_variant	7222			Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.117C>T	4.37:g.122872719G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Silent	SNP	ENST00000379645.3	37	CCDS47130.1																																																																																				0.751	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1	NM_003305	
SIRT3	23410	bcgsc.ca	37	11	216704	216707	+	Frame_Shift_Del	DEL	TGTC	TGTC	-			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	TGTC	TGTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr11:216704_216707delTGTC	ENST00000382743.4	-	7	1293_1296	c.1191_1194delGACA	c.(1189-1194)ccgacafs	p.PT397fs	SIRT3_ENST00000524564.1_Frame_Shift_Del_p.PT351fs|SIRT3_ENST00000532956.1_Frame_Shift_Del_p.PT343fs|SIRT3_ENST00000529382.1_Frame_Shift_Del_p.PT255fs|SIRT3_ENST00000525319.1_Frame_Shift_Del_p.PT316fs	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIR3_HUMAN	sirtuin 3	397					aerobic respiration (GO:0009060)|peptidyl-lysine deacetylation (GO:0034983)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)	membrane (GO:0016020)|mitochondrion (GO:0005739)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|zinc ion binding (GO:0008270)			endometrium(1)|lung(5)|urinary_tract(1)	7		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		CATCCTATTTGTCTGGTCCATCAA	0.49																																						.											0																																										SO:0001589	frameshift_variant	23410			AF083108	CCDS7691.1, CCDS53590.1	11p15.5	2010-06-25	2010-06-25		ENSG00000142082	ENSG00000142082			14931	protein-coding gene	gene with protein product		604481	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 3"", ""sirtuin (silent mating type information regulation 2 homolog) 3 (S. cerevisiae)"""			10381378, 18215119	Standard	NM_012239		Approved	SIR2L3	uc001lok.4	Q9NTG7	OTTHUMG00000119074	ENST00000382743.4:c.1191_1194delGACA	11.37:g.216704_216707delTGTC	ENSP00000372191:p.Pro397fs	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z5U6|Q9Y6E8	Frame_Shift_Del	DEL	ENST00000382743.4	37	CCDS7691.1																																																																																				0.490	SIRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239288.3		
SYCP2	10388	bcgsc.ca	37	20	58461850	58461850	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr20:58461850C>T	ENST00000357552.3	-	25	2629	c.2404G>A	c.(2404-2406)Gaa>Aaa	p.E802K	SYCP2_ENST00000371001.2_Missense_Mutation_p.E802K			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	802					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)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ATCAAGGATTCTGCTACATTG	0.279																																						.											0													101.0	94.0	96.0					20																	58461850		2200	4292	6492	SO:0001583	missense	10388			Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.2404G>A	20.37:g.58461850C>T	ENSP00000350162:p.Glu802Lys	Somatic		WXS	Illumina HiSeq	Phase_I	A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.431596	0.25813	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834	T;T;T	0.19394	2.42;2.42;2.15	5.53	4.56	0.56223	.	0.467879	0.21706	N	0.070351	T	0.25680	0.0625	L	0.52364	1.645	0.28960	N	0.889902	P	0.44139	0.827	B	0.44044	0.439	T	0.09228	-1.0684	10	0.72032	D	0.01	-13.1563	13.4061	0.60913	0.0:0.8418:0.1581:0.0	.	802	Q9BX26	SYCP2_HUMAN	K	802	ENSP00000360040:E802K;ENSP00000350162:E802K;ENSP00000402456:E802K	ENSP00000350162:E802K	E	-	1	0	SYCP2	57895245	1.000000	0.71417	1.000000	0.80357	0.173000	0.22820	1.924000	0.40065	1.292000	0.44672	0.591000	0.81541	GAA		0.279	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258	
SIAH2	6478	bcgsc.ca	37	3	150460253	150460253	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr3:150460253T>C	ENST00000312960.3	-	2	1177	c.650A>G	c.(649-651)gAc>gGc	p.D217G		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	217	SBD.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|cellular protein catabolic process (GO:0044257)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|regulation of protein ubiquitination (GO:0031396)|regulation of RNA biosynthetic process (GO:2001141)|small GTPase mediated signal transduction (GO:0007264)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D217G(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CATCACCCAGTCGACAGCCCC	0.507																																						.											1	Substitution - Missense(1)	lung(1)											113.0	104.0	107.0					3																	150460253		2203	4300	6503	SO:0001583	missense	6478			U76248	CCDS3152.1	3q25	2012-02-23	2012-02-23		ENSG00000181788	ENSG00000181788	6.3.2.1		10858	protein-coding gene	gene with protein product		602213	"""seven in absentia (Drosophila) homolog 2"", ""seven in absentia homolog 2 (Drosophila)"""			9334332	Standard	NM_005067		Approved		uc003eyi.3	O43255	OTTHUMG00000159847	ENST00000312960.3:c.650A>G	3.37:g.150460253T>C	ENSP00000322457:p.Asp217Gly	Somatic		WXS	Illumina HiSeq	Phase_I	O43270	Missense_Mutation	SNP	ENST00000312960.3	37	CCDS3152.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.947371	0.92593	.	.	ENSG00000181788	ENST00000312960	T	0.25912	1.77	5.67	5.67	0.87782	TRAF-type (1);Seven-in-absentia protein, TRAF-like domain (1);TRAF-like (1);	0.000000	0.85682	D	0.000000	T	0.55657	0.1934	M	0.90759	3.145	0.80722	D	1	P	0.43287	0.802	P	0.57846	0.828	T	0.59150	-0.7508	10	0.36615	T	0.2	.	15.9206	0.79562	0.0:0.0:0.0:1.0	.	217	O43255	SIAH2_HUMAN	G	217	ENSP00000322457:D217G	ENSP00000322457:D217G	D	-	2	0	SIAH2	151942943	1.000000	0.71417	0.994000	0.49952	0.922000	0.55478	8.024000	0.88770	2.148000	0.66965	0.482000	0.46254	GAC		0.507	SIAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357697.1	NM_005067	
DIAPH1	1729	bcgsc.ca	37	5	140953097	140953097	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chr5:140953097T>C	ENST00000398557.4	-	16	2460	c.2320A>G	c.(2320-2322)Aag>Gag	p.K774E	DIAPH1_ENST00000253811.6_Missense_Mutation_p.K774E|DIAPH1_ENST00000389054.3_Missense_Mutation_p.K774E|DIAPH1_ENST00000518047.1_Missense_Mutation_p.K765E|DIAPH1_ENST00000398566.3_Missense_Mutation_p.K765E|DIAPH1_ENST00000398562.2_Missense_Mutation_p.K753E|DIAPH1_ENST00000520569.1_Missense_Mutation_p.K720E|DIAPH1_ENST00000389057.5_Missense_Mutation_p.K765E	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	774	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTCTGGCTTATAAAGCTTT	0.458																																						.											0													62.0	68.0	66.0					5																	140953097		1831	4085	5916	SO:0001583	missense	1729			BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"""diaphanous (Drosophila, homolog) 1"", ""diaphanous homolog 1 (Drosophila)"""	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.2320A>G	5.37:g.140953097T>C	ENSP00000381565:p.Lys774Glu	Somatic		WXS	Illumina HiSeq	Phase_I	A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Missense_Mutation	SNP	ENST00000398557.4	37	CCDS43374.1	.	.	.	.	.	.	.	.	.	.	T	16.83	3.231990	0.58777	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047;ENST00000546094	T;T;T;T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25;2.25;2.25;2.25	5.18	3.94	0.45596	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.408429	0.22997	N	0.053126	T	0.29256	0.0728	M	0.64170	1.965	0.46437	D	0.999046	D;D;D	0.56968	0.965;0.978;0.978	P;P;P	0.55615	0.711;0.78;0.78	T	0.01661	-1.1301	10	0.40728	T	0.16	.	10.8348	0.46681	0.0:0.0:0.1582:0.8418	.	720;765;774	E7ERW8;E9PEZ2;O60610	.;.;DIAP1_HUMAN	E	774;720;753;765;765;774;774;765;213	ENSP00000373706:K774E;ENSP00000429282:K720E;ENSP00000381570:K753E;ENSP00000373709:K765E;ENSP00000381572:K765E;ENSP00000381565:K774E;ENSP00000253811:K774E;ENSP00000428268:K765E	ENSP00000253811:K774E	K	-	1	0	DIAPH1	140933281	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.680000	0.68168	1.958000	0.56883	0.482000	0.46254	AAG		0.458	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219	
MT-CO1	4512	bcgsc.ca	37	M	5917	5917	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8403-01A-11D-2310-10	TCGA-KO-8403-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	1072ce9e-3d2b-46e5-bd68-8029383f351b	3fe26d59-6847-4eed-a8d0-6bd2c5ea355b	g.chrM:5917G>A	ENST00000361624.2	+	1	14	c.14G>A	c.(13-15)cGt>cAt	p.R5H	MT-TC_ENST00000387405.1_RNA|MT-TI_ENST00000387365.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-CO2_ENST00000361739.1_5'Flank|MT-ATP8_ENST00000361851.1_5'Flank|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	5					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						GTTCGCCGACCGTTGACTATT	0.478																																						.											0																																										SO:0001583	missense	5742					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.14G>A	M.37:g.5917G>A	ENSP00000354499:p.Arg5His	Somatic		WXS	Illumina HiSeq	Phase_I	Q34770	Missense_Mutation	SNP	ENST00000361624.2	37																																																																																					0.478	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024028	
