#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_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_Chromosome_hg18	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_End_position_hg18	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_ORegAnno_bin	i_Start_position_hg18	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
ABCF1	23	hgsc.bcm.edu	37	6	30553726	30553726	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr6:30553726G>C	ENST00000326195.8	+	17	1783	c.1671G>C	c.(1669-1671)aaG>aaC	p.K557N	ABCF1_ENST00000376545.3_Missense_Mutation_p.K519N|ABCF1_ENST00000396515.4_Intron|MIR877_ENST00000401282.1_RNA	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	557					inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)	p.K557N(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						AAGAGAAAAAGCTGAAGGAGC	0.552																																																1	Substitution - Missense(1)	ovary(1)	6											26.0	22.0	23.0					6																	30553726		1511	2709	4220	30661705	SO:0001583	missense	23			AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"""ATP binding cassette transporters / subfamily F"""	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.1671G>C	6.37:g.30553726G>C	ENSP00000313603:p.Lys557Asn		30661705	A2BF75|O14897|Q69YP6	Missense_Mutation	SNP	ENST00000326195.8	37	CCDS34380.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.906686	0.52333	.	.	ENSG00000204574	ENST00000326195;ENST00000376545	T;T	0.56444	0.46;0.92	4.79	3.9	0.45041	.	0.269175	0.40469	N	0.001094	T	0.34308	0.0893	L	0.56769	1.78	0.80722	D	1	B;B;B	0.30236	0.274;0.274;0.274	B;B;B	0.34301	0.179;0.115;0.115	T	0.38866	-0.9641	10	0.59425	D	0.04	-22.084	8.9325	0.35680	0.1764:0.0:0.8236:0.0	.	519;557;557	Q2L6I2;Q8NE71;A2BF75	.;ABCF1_HUMAN;.	N	557;519	ENSP00000313603:K557N;ENSP00000365728:K519N	ENSP00000313603:K557N	K	+	3	2	ABCF1	30661705	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	1.705000	0.37867	1.207000	0.43291	0.484000	0.47621	AAG		0.552	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3		
ADAM8	101	hgsc.bcm.edu	37	10	135076677	135076678	+	Frame_Shift_Ins	INS	-	-	T	rs58683011|rs146838825|rs397733581|rs561363568		TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr10:135076677_135076678insT	ENST00000445355.3	-	23	2507_2508	c.2457_2458insA	c.(2455-2460)ggagctfs	p.A820fs	ADAM8_ENST00000415217.3_3'UTR|ADAM8_ENST00000485491.2_Frame_Shift_Ins_p.A729fs	NM_001109.4	NP_001100.3	P78325	ADAM8_HUMAN	ADAM metallopeptidase domain 8	820					activation of MAPK activity involved in innate immune response (GO:0035419)|angiogenesis (GO:0001525)|cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration involved in inflammatory response (GO:0002523)|lymphocyte chemotaxis (GO:0048247)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell adhesion (GO:0045785)|positive regulation of eosinophil migration (GO:2000418)|positive regulation of fibronectin-dependent thymocyte migration (GO:2000415)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of neutrophil extravasation (GO:2000391)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein processing (GO:0010954)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000309)|regulation of cell-cell adhesion (GO:0022407)|single organismal cell-cell adhesion (GO:0016337)	alpha9-beta1 integrin-ADAM8 complex (GO:0071133)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dense core granule membrane (GO:0032127)|integral component of plasma membrane (GO:0005887)|phagolysosome (GO:0032010)|plasma membrane (GO:0005886)|podosome (GO:0002102)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein self-association (GO:0043621)|zinc ion binding (GO:0008270)	p.L820fs*6(1)		central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		GCTGTGGGAGCTCCGGCTCCTT	0.569																																																1	Insertion - Frameshift(1)	ovary(1)	10																																								134926669	SO:0001589	frameshift_variant	101			D26579	CCDS31319.2, CCDS58102.1, CCDS58103.1	10q26.3	2014-03-20	2005-08-18		ENSG00000151651	ENSG00000151651		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	215	protein-coding gene	gene with protein product		602267	"""a disintegrin and metalloproteinase domain 8"""			9126482	Standard	NM_001109		Approved	CD156, MS2, CD156a	uc021qbe.1	P78325	OTTHUMG00000019309	ENST00000445355.3:c.2458dupA	10.37:g.135076678_135076678dupT	ENSP00000453302:p.Ala820fs		134926668	B4DVM6|H0YL36|H0YLR0|H0YN39	Frame_Shift_Ins	INS	ENST00000445355.3	37	CCDS31319.2																																																																																				0.569	ADAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051118.4	NM_001109	
ARID1B	57492	hgsc.bcm.edu	37	6	157527996	157527997	+	Frame_Shift_Ins	INS	-	-	T			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr6:157527996_157527997insT	ENST00000350026.5	+	19	5683_5684	c.5682_5683insT	c.(5683-5685)cagfs	p.Q1895fs	ARID1B_ENST00000346085.5_Frame_Shift_Ins_p.Q1908fs|ARID1B_ENST00000275248.4_Frame_Shift_Ins_p.Q1890fs|ARID1B_ENST00000367148.1_Frame_Shift_Ins_p.Q1948fs	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1895					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.Q1890fs*36(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CCTTTGGTATCCAGCAAGCCAA	0.584																																																1	Insertion - Frameshift(1)	ovary(1)	6																																								157569689	SO:0001589	frameshift_variant	57492			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	Exception_encountered	6.37:g.157527996_157527997insT	ENSP00000055163:p.Gln1895fs		157569688	Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Frame_Shift_Ins	INS	ENST00000350026.5	37	CCDS5251.2																																																																																				0.584	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732	
ARID1B	57492	hgsc.bcm.edu	37	6	157528001	157528001	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr6:157528001A>C	ENST00000350026.5	+	19	5688	c.5687A>C	c.(5686-5688)cAa>cCa	p.Q1896P	ARID1B_ENST00000346085.5_Missense_Mutation_p.Q1909P|ARID1B_ENST00000275248.4_Missense_Mutation_p.Q1891P|ARID1B_ENST00000367148.1_Missense_Mutation_p.Q1949P	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1896					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.Q1891P(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GGTATCCAGCAAGCCAAAAGT	0.592																																																1	Substitution - Missense(1)	ovary(1)	6											96.0	93.0	94.0					6																	157528001		2203	4296	6499	157569693	SO:0001583	missense	57492			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.5687A>C	6.37:g.157528001A>C	ENSP00000055163:p.Gln1896Pro		157569693	Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	A	7.886	0.731295	0.15507	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.02032	4.8;4.8;4.8;4.8;4.49	5.08	5.08	0.68730	.	0.305820	0.35677	N	0.003047	T	0.00580	0.0019	N	0.16098	0.37	0.42671	D	0.993519	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.04013	0.0;0.001;0.001	T	0.37731	-0.9693	10	0.05436	T	0.98	.	14.858	0.70355	1.0:0.0:0.0:0.0	.	1896;1909;1891	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	P	1909;1896;1949;1891;1418	ENSP00000344546:Q1909P;ENSP00000055163:Q1896P;ENSP00000356116:Q1949P;ENSP00000275248:Q1891P;ENSP00000412835:Q1418P	ENSP00000275248:Q1891P	Q	+	2	0	ARID1B	157569693	1.000000	0.71417	0.485000	0.27403	0.810000	0.45777	5.916000	0.69981	1.903000	0.55091	0.460000	0.39030	CAA		0.592	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732	
ASTE1	28990	hgsc.bcm.edu	37	3	130733047	130733047	+	Frame_Shift_Del	DEL	T	T	-			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr3:130733047delT	ENST00000264992.3	-	6	2335	c.1894delA	c.(1894-1896)aggfs	p.R632fs	ATP2C1_ENST00000533801.2_Intron|ATP2C1_ENST00000359644.3_Intron|ASTE1_ENST00000514044.1_Frame_Shift_Del_p.R657fs|ATP2C1_ENST00000513801.1_Intron|ATP2C1_ENST00000504381.1_Intron|ATP2C1_ENST00000393221.4_Intron|ATP2C1_ENST00000328560.8_Intron|ATP2C1_ENST00000422190.2_Intron|ATP2C1_ENST00000507488.2_Intron	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	632					DNA repair (GO:0006281)		nuclease activity (GO:0004518)	p.R632fs*33(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						TTCTTCTGCCTTTTTTTTTTT	0.403																																																2	Deletion - Frameshift(2)	ovary(2)	3											57.0	55.0	56.0					3																	130733047		2203	4300	6503	132215737	SO:0001589	frameshift_variant	28990			AF113539	CCDS3068.1, CCDS75007.1	3q21.3	2005-11-17			ENSG00000034533	ENSG00000034533			25021	protein-coding gene	gene with protein product							Standard	NM_014065		Approved	HT001	uc003env.1	Q2TB18	OTTHUMG00000159644	ENST00000264992.3:c.1894delA	3.37:g.130733047delT	ENSP00000264992:p.Arg632fs		132215737	B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Frame_Shift_Del	DEL	ENST00000264992.3	37	CCDS3068.1																																																																																				0.403	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356659.1	NM_014065	
CCNA1	8900	hgsc.bcm.edu	37	13	37015329	37015329	+	Silent	SNP	T	T	A			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr13:37015329T>A	ENST00000255465.4	+	7	1437	c.1173T>A	c.(1171-1173)gcT>gcA	p.A391A	CCNA1_ENST00000449823.1_Silent_p.A347A|CCNA1_ENST00000418263.1_Silent_p.A390A|CCNA1_ENST00000440264.1_Silent_p.A347A			P78396	CCNA1_HUMAN	cyclin A1	391	Poly-Ala.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)		p.A391A(2)		breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		CTGCAGCAGCTTTTTGCCTGG	0.398																																																2	Substitution - coding silent(2)	ovary(2)	13											151.0	132.0	139.0					13																	37015329		2203	4300	6503	35913329	SO:0001819	synonymous_variant	8900			U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.1173T>A	13.37:g.37015329T>A			35913329	B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Silent	SNP	ENST00000255465.4	37	CCDS9357.1																																																																																				0.398	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	NM_003914	
CNTN6	27255	hgsc.bcm.edu	37	3	1424790	1424790	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr3:1424790A>T	ENST00000446702.2	+	18	2958	c.2331A>T	c.(2329-2331)aaA>aaT	p.K777N	CNTN6_ENST00000350110.2_Missense_Mutation_p.K777N|CNTN6_ENST00000539053.1_Missense_Mutation_p.K705N			Q9UQ52	CNTN6_HUMAN	contactin 6	777	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.K777N(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TTGAAGTCAAAGTGGGTGTGT	0.443																																																1	Substitution - Missense(1)	ovary(1)	3											142.0	130.0	134.0					3																	1424790		2203	4300	6503	1399790	SO:0001583	missense	27255			AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2331A>T	3.37:g.1424790A>T	ENSP00000407822:p.Lys777Asn		1399790	Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.982972	0.74474	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.55052	0.54;0.54;0.54	6.08	2.14	0.27477	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000007	T	0.76772	0.4034	H	0.95187	3.635	0.53005	D	0.999963	D	0.76494	0.999	D	0.78314	0.991	T	0.76854	-0.2805	10	0.87932	D	0	.	8.6282	0.33904	0.6816:0.0:0.3184:0.0	.	777	Q9UQ52	CNTN6_HUMAN	N	777;705;777	ENSP00000407822:K777N;ENSP00000442791:K705N;ENSP00000341882:K777N	ENSP00000341882:K777N	K	+	3	2	CNTN6	1399790	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.080000	0.41586	0.113000	0.18004	0.533000	0.62120	AAA		0.443	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461	
EGFR	1956	hgsc.bcm.edu	37	7	55259458	55259458	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr7:55259458C>T	ENST00000275493.2	+	21	2693	c.2516C>T	c.(2515-2517)gCa>gTa	p.A839V	EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.A794V|EGFR_ENST00000454757.2_Missense_Mutation_p.A786V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	839	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.A839V(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CGCGACCTGGCAGCCAGGAAC	0.532		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""		"""E, O"""	1	Substitution - Missense(1)	ovary(1)	7											117.0	102.0	107.0					7																	55259458		2203	4300	6503	55226952	SO:0001583	missense	1956	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2516C>T	7.37:g.55259458C>T	ENSP00000275493:p.Ala839Val		55226952	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	36	5.708595	0.96821	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.63580	-0.05;-0.05;-0.05	5.82	5.82	0.92795	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87692	0.6241	H	0.98256	4.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.972;0.999	D	0.91724	0.5391	10	0.87932	D	0	.	18.6604	0.91470	0.0:1.0:0.0:0.0	.	794;839	Q504U8;P00533	.;EGFR_HUMAN	V	794;709;839;786	ENSP00000415559:A794V;ENSP00000275493:A839V;ENSP00000395243:A786V	ENSP00000275493:A839V	A	+	2	0	EGFR	55226952	1.000000	0.71417	0.972000	0.41901	0.998000	0.95712	7.692000	0.84203	2.751000	0.94390	0.650000	0.86243	GCA		0.532	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
EP400	57634	hgsc.bcm.edu	37	12	132502845	132502845	+	Missense_Mutation	SNP	C	C	T	rs201961439		TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr12:132502845C>T	ENST00000333577.4	+	22	4418	c.4309C>T	c.(4309-4311)Cgg>Tgg	p.R1437W	EP400_ENST00000330386.6_Missense_Mutation_p.R1401W|EP400_ENST00000389562.2_Missense_Mutation_p.R1400W|EP400_ENST00000389561.2_Missense_Mutation_p.R1401W|EP400_ENST00000332482.4_Missense_Mutation_p.R1364W			Q96L91	EP400_HUMAN	E1A binding protein p400	1437					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.R1400W(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AAAGATACCGCGGAAACTCAT	0.517																																																1	Substitution - Missense(1)	ovary(1)	12						C	TRP/ARG	0,4406		0,0,2203	56.0	57.0	57.0		4201	5.4	0.5	12		57	3,8597	3.0+/-9.4	0,3,4297	yes	missense	EP400	NM_015409.4	101	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	1401/3124	132502845	3,13003	2203	4300	6503	131068798	SO:0001583	missense	57634			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.4309C>T	12.37:g.132502845C>T	ENSP00000333602:p.Arg1437Trp		131068798	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37		.	.	.	.	.	.	.	.	.	.	C	8.092	0.774832	0.16051	0.0	3.49E-4	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296;ENST00000542457	D;D;D;D;D	0.91740	-2.9;-2.89;-2.89;-2.88;-2.78	5.43	5.43	0.79202	.	0.119075	0.56097	D	0.000024	D	0.92941	0.7754	M	0.68952	2.095	0.34631	D	0.719658	D;D;D	0.61697	0.99;0.99;0.99	P;P;P	0.51833	0.681;0.681;0.681	D	0.95971	0.8970	10	0.87932	D	0	.	12.3901	0.55355	0.2838:0.7162:0.0:0.0	.	1401;1401;1400	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	W	1437;1401;1400;1364;1401;1401;1401	ENSP00000333602:R1437W;ENSP00000374212:R1401W;ENSP00000374213:R1400W;ENSP00000331737:R1364W;ENSP00000330620:R1401W	ENSP00000330620:R1401W	R	+	1	2	EP400	131068798	1.000000	0.71417	0.541000	0.28102	0.007000	0.05969	4.908000	0.63307	2.545000	0.85829	0.655000	0.94253	CGG		0.517	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409	
KLF15	28999	hgsc.bcm.edu	37	3	126071521	126071521	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr3:126071521G>C	ENST00000296233.3	-	2	475	c.245C>G	c.(244-246)tCc>tGc	p.S82C	KLF15_ENST00000509675.1_5'UTR	NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	82					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to peptide (GO:1901653)|glial cell differentiation (GO:0010001)|glomerular visceral epithelial cell differentiation (GO:0072112)|glucose transport (GO:0015758)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)	p.S82C(1)		endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		CGTGGCCTGGGACAATAGGAA	0.687																																																1	Substitution - Missense(1)	ovary(1)	3											10.0	10.0	10.0					3																	126071521		2192	4286	6478	127554211	SO:0001583	missense	28999			AB029254	CCDS3036.1	3q21.3	2013-01-08			ENSG00000163884	ENSG00000163884		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	14536	protein-coding gene	gene with protein product	"""kidney-enriched Kruppel-like factor"""	606465				10982849	Standard	NM_014079		Approved	KKLF	uc011bkk.1	Q9UIH9	OTTHUMG00000162689	ENST00000296233.3:c.245C>G	3.37:g.126071521G>C	ENSP00000296233:p.Ser82Cys		127554211		Missense_Mutation	SNP	ENST00000296233.3	37	CCDS3036.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.895995	0.52121	.	.	ENSG00000163884	ENST00000296233	T	0.25749	1.78	4.3	3.42	0.39159	.	0.050406	0.85682	D	0.000000	T	0.44767	0.1309	M	0.61703	1.905	0.58432	D	0.999997	D	0.76494	0.999	D	0.80764	0.994	T	0.40683	-0.9550	10	0.87932	D	0	.	10.3835	0.44125	0.1011:0.0:0.8989:0.0	.	82	Q9UIH9	KLF15_HUMAN	C	82	ENSP00000296233:S82C	ENSP00000296233:S82C	S	-	2	0	KLF15	127554211	1.000000	0.71417	1.000000	0.80357	0.537000	0.34900	9.807000	0.99171	1.099000	0.41499	0.591000	0.81541	TCC		0.687	KLF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370096.1	NM_014079	
NOS3	4846	hgsc.bcm.edu	37	7	150699340	150699340	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr7:150699340T>C	ENST00000484524.1	+	13	1700	c.1700T>C	c.(1699-1701)gTg>gCg	p.V567A	NOS3_ENST00000297494.3_Missense_Mutation_p.V567A|NOS3_ENST00000461406.1_Missense_Mutation_p.V361A|NOS3_ENST00000467517.1_Missense_Mutation_p.V567A	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.V567A(1)		NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAGACGCTGGTGCTGGTGGTA	0.587																																																1	Substitution - Missense(1)	ovary(1)	7											56.0	46.0	50.0					7																	150699340		2202	4295	6497	150330273	SO:0001583	missense	4846				CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.1700T>C	7.37:g.150699340T>C	ENSP00000420215:p.Val567Ala		150330273	Q495E5	Missense_Mutation	SNP	ENST00000484524.1	37	CCDS55182.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.481722	0.84747	.	.	ENSG00000164867	ENST00000297494;ENST00000461406;ENST00000484524;ENST00000467517	T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85	4.5	4.5	0.54988	Flavodoxin/nitric oxide synthase (2);	0.000000	0.53938	D	0.000049	T	0.80670	0.4667	L	0.51914	1.62	0.50039	D	0.999842	D;D;D;D;D	0.69078	0.977;0.987;0.993;0.993;0.997	D;D;D;D;D	0.76575	0.929;0.963;0.973;0.963;0.988	T	0.78645	-0.2123	10	0.33141	T	0.24	-16.7725	12.0839	0.53686	0.0:0.0:0.0:1.0	.	567;567;567;361;567	A0S0A6;E9PFR2;A0S0A8;E7ESA7;P29474	.;.;.;.;NOS3_HUMAN	A	567;361;567;567	ENSP00000297494:V567A;ENSP00000417143:V361A;ENSP00000420215:V567A;ENSP00000420551:V567A	ENSP00000297494:V567A	V	+	2	0	NOS3	150330273	1.000000	0.71417	0.991000	0.47740	0.968000	0.65278	7.825000	0.86693	2.014000	0.59158	0.459000	0.35465	GTG		0.587	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	NM_000603	
OR52N5	390075	hgsc.bcm.edu	37	11	5799652	5799652	+	Frame_Shift_Del	DEL	A	A	-			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr11:5799652delA	ENST00000317093.2	-	1	245	c.213delT	c.(211-213)tttfs	p.F71fs	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	71						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F71fs*59(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GAGCATGGCCAAAAAAAAAAT	0.428																																																1	Deletion - Frameshift(1)	ovary(1)	11								21,37,4048		0,0,21,1,35,1996	123.0	117.0	119.0			2.7	0.6	11		123	37,129,7678		1,0,35,6,117,3763	no	codingComplex	OR52N5	NM_001001922.2		1,0,56,7,152,5759	A1A1,A1A2,A1R,A2A2,A2R,RR		2.1163,1.4126,1.8745			5799652	58,166,11726	2125	4088	6213	5756228	SO:0001589	frameshift_variant	390075			AB065535	CCDS31397.1	11p15.4	2012-08-09			ENSG00000181009	ENSG00000181009		"""GPCR / Class A : Olfactory receptors"""	15231	protein-coding gene	gene with protein product							Standard	NM_001001922		Approved	OR52N5Q	uc010qzn.2	Q8NH56	OTTHUMG00000168799	ENST00000317093.2:c.213delT	11.37:g.5799652delA	ENSP00000322866:p.Phe71fs		5756228	B9EH12|Q6IFG2	Frame_Shift_Del	DEL	ENST00000317093.2	37	CCDS31397.1																																																																																				0.428	OR52N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401141.1	NM_001001922	
PI4K2A	55361	hgsc.bcm.edu	37	10	99416699	99416699	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr10:99416699T>C	ENST00000370631.3	+	4	947	c.890T>C	c.(889-891)tTg>tCg	p.L297S	PI4K2A_ENST00000555577.1_Missense_Mutation_p.L267S|PI4K2A_ENST00000370649.3_Missense_Mutation_p.L267S	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	297	PI3K/PI4K.				basophil degranulation (GO:0002561)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endosome (GO:0005768)|exocytic vesicle (GO:0070382)|Golgi apparatus (GO:0005794)|growing cell tip (GO:0035838)|host cell presynaptic membrane (GO:0044231)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|presynaptic membrane (GO:0042734)|protein complex (GO:0043234)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|AP-3 adaptor complex binding (GO:0035651)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)	p.L297S(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		TTTGAGCGGTTGGTGGTGCTG	0.552																																																1	Substitution - Missense(1)	ovary(1)	10											87.0	81.0	83.0					10																	99416699		2203	4300	6503	99406689	SO:0001583	missense	55361			AF070611	CCDS7469.1	10q24	2011-02-09			ENSG00000155252	ENSG00000155252			30031	protein-coding gene	gene with protein product		609763				11244087, 11279162	Standard	NM_018425		Approved	PI4KII, DKFZP761G1923, PIK42A	uc001kog.1	Q9BTU6	OTTHUMG00000018863	ENST00000370631.3:c.890T>C	10.37:g.99416699T>C	ENSP00000359665:p.Leu297Ser		99406689	D3DR59|Q9NSG8	Missense_Mutation	SNP	ENST00000370631.3	37	CCDS7469.1	.	.	.	.	.	.	.	.	.	.	T	18.20	3.572110	0.65765	.	.	ENSG00000155252;ENSG00000155252;ENSG00000249967	ENST00000555577;ENST00000370631;ENST00000370649	T;T;T	0.78816	-1.21;-1.21;-1.21	5.35	5.35	0.76521	Phosphatidylinositol 3-/4-kinase, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.91761	0.7394	H	0.96489	3.83	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.987	D	0.94304	0.7539	10	0.87932	D	0	-10.2998	15.372	0.74573	0.0:0.0:0.0:1.0	.	267;297	E9PAM4;Q9BTU6	.;P4K2A_HUMAN	S	267;297;267	ENSP00000452243:L267S;ENSP00000359665:L297S;ENSP00000359683:L267S	ENSP00000359665:L297S	L	+	2	0	PI4K2A;RP11-548K23.11	99406689	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	8.040000	0.89188	2.044000	0.60594	0.477000	0.44152	TTG		0.552	PI4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049735.1	NM_018425	
PILRB	29990	hgsc.bcm.edu	37	7	99957129	99957131	+	In_Frame_Del	DEL	CCT	CCT	-	rs397890520|rs5886120|rs62640024	byFrequency	TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	CCT	CCT	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr7:99957129_99957131delCCT	ENST00000452089.1	+	8	1683_1685	c.624_626delCCT	c.(622-627)tgcctc>tgc	p.L212del	STAG3L5P-PVRIG2P-PILRB_ENST00000310771.4_RNA|PILRB_ENST00000609309.1_In_Frame_Del_p.L212del|PILRB_ENST00000444073.1_In_Frame_Del_p.L212del|PILRB_ENST00000610247.1_In_Frame_Del_p.L212del|PILRB_ENST00000448382.1_In_Frame_Del_p.P264del			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	212				Missing (in Ref. 2; CAC19193). {ECO:0000305}.	activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)		p.L212delL(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GACTGCTGTGCCTCCTCCTCCTG	0.552														525	0.104832	0.1074	0.1023	5008	,	,		20509	0.0278		0.1759	False		,,,				2504	0.1094															1	Deletion - In frame(1)	ovary(1)	7								558,3692		34,490,1601						1.1	0.0		dbSNP_126	89	1608,6644		150,1308,2668	no	coding	PILRB	NM_178238.2		184,1798,4269	A1A1,A1R,RR		19.4862,13.1294,17.3252				2166,10336				99795067	SO:0001651	inframe_deletion	29990			AF161081, AJ400845	CCDS43622.1	7q22.1	2014-05-16			ENSG00000121716	ENSG00000121716		"""Immunoglobulin superfamily / V-set domain containing"""	18297	protein-coding gene	gene with protein product		605342				10660620	Standard	NM_178238		Approved	FDFACT1, FDFACT2	uc022ail.1	Q9UKJ0	OTTHUMG00000155363	ENST00000452089.1:c.624_626delCCT	7.37:g.99957138_99957140delCCT	ENSP00000391748:p.Leu212del		99795065	Q69YF9|Q9HBS0	In_Frame_Del	DEL	ENST00000452089.1	37	CCDS43622.1																																																																																				0.552	PILRB-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339923.2	NM_178238	
PRSS35	167681	hgsc.bcm.edu	37	6	84234349	84234349	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr6:84234349G>A	ENST00000369700.3	+	2	1366	c.1189G>A	c.(1189-1191)Gcc>Acc	p.A397T	PRSS35_ENST00000536636.1_Missense_Mutation_p.A397T	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	397	Peptidase S1.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)	p.A397T(1)		breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		CCTAAAATACGCCCAGATTTG	0.507																																																1	Substitution - Missense(1)	ovary(1)	6											63.0	46.0	52.0					6																	84234349		2203	4300	6503	84291068	SO:0001583	missense	167681			BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"""Serine peptidases / Serine peptidases"""	21387	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 158"""	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.1189G>A	6.37:g.84234349G>A	ENSP00000358714:p.Ala397Thr		84291068	A8K7B3|Q9BQP6	Missense_Mutation	SNP	ENST00000369700.3	37	CCDS4999.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852822	0.91355	.	.	ENSG00000146250	ENST00000536636;ENST00000369700	T;T	0.50548	0.74;0.74	5.91	5.91	0.95273	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.000000	0.85682	D	0.000000	T	0.67896	0.2942	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.69840	-0.5036	10	0.87932	D	0	-26.7098	20.2946	0.98546	0.0:0.0:1.0:0.0	.	397	Q8N3Z0	PRS35_HUMAN	T	397	ENSP00000440870:A397T;ENSP00000358714:A397T	ENSP00000358714:A397T	A	+	1	0	PRSS35	84291068	1.000000	0.71417	0.986000	0.45419	0.953000	0.61014	7.636000	0.83301	2.804000	0.96469	0.462000	0.41574	GCC		0.507	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041352.1	NM_153362	
PTCH1	5727	hgsc.bcm.edu	37	9	98239936	98239936	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr9:98239936G>C	ENST00000331920.6	-	10	1695	c.1396C>G	c.(1396-1398)Cag>Gag	p.Q466E	PTCH1_ENST00000375274.2_Missense_Mutation_p.Q465E|PTCH1_ENST00000548379.1_5'Flank|PTCH1_ENST00000430669.2_Missense_Mutation_p.Q400E|PTCH1_ENST00000429896.2_Missense_Mutation_p.Q315E|PTCH1_ENST00000418258.1_Missense_Mutation_p.Q315E|PTCH1_ENST00000421141.1_Missense_Mutation_p.Q315E|PTCH1_ENST00000437951.1_Missense_Mutation_p.Q400E	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	466	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.Q466E(2)|p.Q465E(1)|p.Q466*(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				ACGGCACCCTGGGACTTGGAG	0.567																																																4	Substitution - Missense(3)|Substitution - Nonsense(1)	ovary(3)|skin(1)	9											42.0	42.0	42.0					9																	98239936		2203	4300	6503	97279757	SO:0001583	missense	5727			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.1396C>G	9.37:g.98239936G>C	ENSP00000332353:p.Gln466Glu		97279757	A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.036451	0.93630	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.95656	-3.77;-3.77;-3.77;-3.77;-3.77;-3.77;-3.77	5.06	5.06	0.68205	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.97751	0.9262	M	0.82323	2.585	0.80722	D	1	D;D;D	0.71674	0.998;0.986;0.997	D;P;D	0.71414	0.954;0.878;0.973	D	0.98333	1.0534	10	0.72032	D	0.01	-21.6948	18.6256	0.91336	0.0:0.0:1.0:0.0	.	400;465;466	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	E	466;400;315;315;400;315;465	ENSP00000332353:Q466E;ENSP00000389744:Q400E;ENSP00000399981:Q315E;ENSP00000396135:Q315E;ENSP00000410287:Q400E;ENSP00000414823:Q315E;ENSP00000364423:Q465E	ENSP00000332353:Q466E	Q	-	1	0	PTCH1	97279757	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.263000	0.95617	2.619000	0.88677	0.655000	0.94253	CAG		0.567	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264	
SLC8A1	6546	hgsc.bcm.edu	37	2	40392065	40392065	+	Frame_Shift_Del	DEL	C	C	-			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr2:40392065delC	ENST00000403092.1	-	8	2131	c.2098delG	c.(2098-2100)gaafs	p.E700fs	SLC8A1_ENST00000332839.4_Frame_Shift_Del_p.E700fs|SLC8A1_ENST00000402441.1_Frame_Shift_Del_p.E664fs|SLC8A1_ENST00000406391.2_Frame_Shift_Del_p.E664fs|SLC8A1_ENST00000406785.2_Frame_Shift_Del_p.E664fs|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000542024.1_Frame_Shift_Del_p.E664fs|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1_ENST00000405901.3_Frame_Shift_Del_p.E695fs|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000405269.1_Frame_Shift_Del_p.E664fs|SLC8A1_ENST00000408028.2_Frame_Shift_Del_p.E692fs|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000542756.1_Frame_Shift_Del_p.E695fs|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	700					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.E700fs*15(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CGCCCCATTTCTGCAATGCGC	0.502																																																1	Deletion - Frameshift(1)	ovary(1)	2											187.0	179.0	181.0					2																	40392065		2203	4300	6503	40245569	SO:0001589	frameshift_variant	6546				CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.2098delG	2.37:g.40392065delC	ENSP00000384763:p.Glu700fs		40245569	A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Frame_Shift_Del	DEL	ENST00000403092.1	37	CCDS1806.1																																																																																				0.502	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097	
SPEG	10290	hgsc.bcm.edu	37	2	220315873	220315873	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr2:220315873C>A	ENST00000312358.7	+	5	2261	c.2129C>A	c.(2128-2130)tCc>tAc	p.S710Y	SPEG_ENST00000396698.1_Missense_Mutation_p.S606Y|SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396695.2_5'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	710					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S710Y(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TCGGATGACTCCTACGTGTCC	0.602																																																1	Substitution - Missense(1)	ovary(1)	2											112.0	113.0	113.0					2																	220315873		1970	4146	6116	220024117	SO:0001583	missense	10290			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.2129C>A	2.37:g.220315873C>A	ENSP00000311684:p.Ser710Tyr		220024117	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.580912	0.86748	.	.	ENSG00000072195	ENST00000312358;ENST00000265327;ENST00000396698	T;T	0.67865	-0.29;-0.01	5.43	5.43	0.79202	.	0.000000	0.41194	D	0.000935	T	0.73418	0.3584	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.76594	-0.2902	10	0.62326	D	0.03	.	18.835	0.92159	0.0:1.0:0.0:0.0	.	710	Q15772	SPEG_HUMAN	Y	710;710;606	ENSP00000311684:S710Y;ENSP00000379926:S606Y	ENSP00000265327:S710Y	S	+	2	0	SPEG	220024117	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	7.453000	0.80700	2.556000	0.86216	0.655000	0.94253	TCC		0.602	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876	
TBX1	6899	hgsc.bcm.edu	37	22	19752518	19752518	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr22:19752518T>C	ENST00000329705.7	+	6	851	c.722T>C	c.(721-723)tTc>tCc	p.F241S	TBX1_ENST00000332710.4_Missense_Mutation_p.F241S|TBX1_ENST00000359500.3_Missense_Mutation_p.F241S	NM_080646.1	NP_542377.1	O43435	TBX1_HUMAN	T-box 1	241					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|aorta morphogenesis (GO:0035909)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|blood vessel morphogenesis (GO:0048514)|blood vessel remodeling (GO:0001974)|cell fate specification (GO:0001708)|cell proliferation (GO:0008283)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|coronary artery morphogenesis (GO:0060982)|determination of left/right symmetry (GO:0007368)|ear morphogenesis (GO:0042471)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic viscerocranium morphogenesis (GO:0048703)|enamel mineralization (GO:0070166)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|lymph vessel development (GO:0001945)|mesenchymal cell apoptotic process (GO:0097152)|mesoderm development (GO:0007498)|middle ear morphogenesis (GO:0042474)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle organ morphogenesis (GO:0048644)|muscle tissue morphogenesis (GO:0060415)|negative regulation of cell differentiation (GO:0045596)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|parathyroid gland development (GO:0060017)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of tongue muscle cell differentiation (GO:2001037)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of organ morphogenesis (GO:2000027)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retinoic acid receptor signaling pathway (GO:0048384)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|social behavior (GO:0035176)|soft palate development (GO:0060023)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tongue morphogenesis (GO:0043587)|transcription, DNA-templated (GO:0006351)|vagus nerve morphogenesis (GO:0021644)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)	p.F241S(1)		breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				CAGCCCCGCTTCCACGTGGTC	0.542																																																1	Substitution - Missense(1)	ovary(1)	22											97.0	94.0	95.0					22																	19752518		2203	4300	6503	18132518	SO:0001583	missense	6899			AF012131	CCDS13765.1, CCDS13766.1, CCDS13767.1	22q11.21	2014-09-17			ENSG00000184058	ENSG00000184058		"""T-boxes"""	11592	protein-coding gene	gene with protein product		602054	"""velocardiofacial syndrome"""	VCF		9268629, 23000736	Standard	NM_080646		Approved	CATCH22	uc002zqa.1	O43435	OTTHUMG00000150421	ENST00000329705.7:c.722T>C	22.37:g.19752518T>C	ENSP00000331176:p.Phe241Ser		18132518	C6G493|C6G494|O43436|Q96RJ2	Missense_Mutation	SNP	ENST00000329705.7	37	CCDS13766.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.615311	0.87359	.	.	ENSG00000184058	ENST00000332710;ENST00000329705;ENST00000359500	D;D;D	0.90069	-2.61;-2.61;-2.61	4.18	4.18	0.49190	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.95271	0.8466	M	0.92219	3.285	0.80722	D	1	D;D;P	0.89917	1.0;0.992;0.922	D;D;P	0.76071	0.987;0.939;0.761	D	0.96116	0.9081	10	0.87932	D	0	.	13.0464	0.58928	0.0:0.0:0.0:1.0	.	241;241;241	Q152R5;O43435;D9ZGG0	.;TBX1_HUMAN;.	S	241	ENSP00000331791:F241S;ENSP00000331176:F241S;ENSP00000352483:F241S	ENSP00000331176:F241S	F	+	2	0	TBX1	18132518	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.754000	0.85163	1.765000	0.52091	0.402000	0.26972	TTC		0.542	TBX1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318033.1	NM_080647	
NME8	51314	hgsc.bcm.edu	37	7	37907457	37907457	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr7:37907457G>A	ENST00000199447.4	+	11	1147	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.E259K	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	259					cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)	p.E259K(1)									ACCTGAGGTCGAAGCCCAGGT	0.448																																																1	Substitution - Missense(1)	ovary(1)	7											98.0	81.0	87.0					7																	37907457		2203	4300	6503	37873982	SO:0001583	missense	51314			AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.775G>A	7.37:g.37907457G>A	ENSP00000199447:p.Glu259Lys		37873982	Q9NZH1	Missense_Mutation	SNP	ENST00000199447.4	37	CCDS5452.1	.	.	.	.	.	.	.	.	.	.	G	8.443	0.851308	0.17034	.	.	ENSG00000086288	ENST00000199447;ENST00000440017	T;T	0.36157	1.27;1.27	3.73	-1.99	0.07457	.	1.254880	0.05903	N	0.630249	T	0.14442	0.0349	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.22103	-1.0226	10	0.06365	T	0.9	0.2498	4.7353	0.12984	0.289:0.3117:0.3994:0.0	.	259	Q8N427	TXND3_HUMAN	K	259	ENSP00000199447:E259K;ENSP00000397063:E259K	ENSP00000199447:E259K	E	+	1	0	TXNDC3	37873982	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.237000	0.08990	-0.633000	0.05545	-1.565000	0.00878	GAA		0.448	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616	
ULK4	54986	hgsc.bcm.edu	37	3	41860985	41860985	+	Frame_Shift_Del	DEL	T	T	-	rs76318575		TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr3:41860985delT	ENST00000301831.4	-	19	2240	c.1778delA	c.(1777-1779)aagfs	p.K593fs		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	593					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.K593fs*17(1)		breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TCTAGGGTTCTTTTTTTTTTC	0.448																																																1	Deletion - Frameshift(1)	ovary(1)	3											62.0	63.0	63.0					3																	41860985		1844	4089	5933	41835989	SO:0001589	frameshift_variant	54986			AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.1778delA	3.37:g.41860985delT	ENSP00000301831:p.Lys593fs		41835989	A6NF15|Q8IW79|Q9NWV6|Q9UF96	Frame_Shift_Del	DEL	ENST00000301831.4	37	CCDS43071.1																																																																																				0.448	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989	
ZRANB1	54764	hgsc.bcm.edu	37	10	126673561	126673561	+	Stop_Codon_Del	DEL	A	A	-	rs74898717		TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr10:126673561delA	ENST00000359653.4	+	0	2498					NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1						cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|positive regulation of Wnt signaling pathway (GO:0030177)|protein deubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0071947)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell morphogenesis (GO:0022604)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.*709fs?(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		AAGATGAATGAAAAAAAAAAT	0.448																																																1	Deletion - Frameshift(1)	ovary(1)	10								287,34,3943		12,0,263,0,34,1823	26.0	25.0	26.0			4.2	1.0	10	dbSNP_132	26	912,64,7278		43,0,826,0,64,3194	no	codingComplex	ZRANB1	NM_017580.2		55,0,1089,0,98,5017	A1A1,A1A2,A1R,A2A2,A2R,RR		11.8246,7.5281,10.3611			126673561	1199,98,11221	2203	4300	6503	126663551	SO:0001567	stop_retained_variant	54764			AJ252060	CCDS7642.1	10q26.12	2014-02-24			ENSG00000019995	ENSG00000019995		"""Zinc fingers, RAN-binding domain containing"", ""OTU domain containing"""	18224	protein-coding gene	gene with protein product		611749				11463333	Standard	NM_017580		Approved	TRABID	uc001lic.3	Q9UGI0	OTTHUMG00000019223	Exception_encountered	10.37:g.126673561delA			126663551	B4DZ98|D3DRF4|Q5SQP6|Q69YK3	Frame_Shift_Del	DEL	ENST00000359653.4	37	CCDS7642.1																																																																																				0.448	ZRANB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050898.1	NM_017580	
PRRC2B	84726	hgsc.bcm.edu	37	9	134358766	134358766	+	Silent	SNP	A	A	T			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr9:134358766A>T	ENST00000357304.4	+	22	5449	c.5394A>T	c.(5392-5394)ccA>ccT	p.P1798P	SNORD62A_ENST00000428514.1_RNA|PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000405995.1_Silent_p.P1104P|PRRC2B_ENST00000458550.1_Silent_p.P1104P	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1798							poly(A) RNA binding (GO:0044822)	p.P1798P(1)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						TCAGCTTGCCACCTGGTTCTG	0.498																																																1	Substitution - coding silent(1)	ovary(1)	9											136.0	128.0	131.0					9																	134358766		1943	4171	6114	133348587	SO:0001819	synonymous_variant	84726			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.5394A>T	9.37:g.134358766A>T			133348587	O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Silent	SNP	ENST00000357304.4	37	CCDS48044.1	.	.	.	.	.	.	.	.	.	.	A	1.777	-0.482985	0.04383	.	.	ENSG00000130723	ENST00000451855	.	.	.	5.51	-11.0	0.00169	.	.	.	.	.	T	0.46560	0.1399	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59558	-0.7432	4	.	.	.	-16.9936	9.5875	0.39526	0.6874:0.059:0.1608:0.0929	.	.	.	.	S	531	.	.	T	+	1	0	PRRC2B	133348587	0.000000	0.05858	0.215000	0.23724	0.198000	0.23893	-2.435000	0.01020	-2.526000	0.00494	-1.044000	0.02363	ACC		0.498	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
DCHS2	54798	hgsc.bcm.edu	37	4	155155778	155155778	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr4:155155778C>G	ENST00000357232.4	-	25	8660	c.8661G>C	c.(8659-8661)ttG>ttC	p.L2887F		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2887					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L2887F(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ACAGTGGAGACAAGGCAGGAG	0.463																																																1	Substitution - Missense(1)	ovary(1)	4											139.0	126.0	130.0					4																	155155778		2203	4300	6503	155375228	SO:0001583	missense	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.8661G>C	4.37:g.155155778C>G	ENSP00000349768:p.Leu2887Phe		155375228	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	8.179	0.793336	0.16327	.	.	ENSG00000197410	ENST00000357232	T	0.55234	0.53	5.93	2.34	0.29019	.	0.913541	0.09478	N	0.796781	T	0.34483	0.0899	L	0.36672	1.1	0.45452	D	0.998429	B	0.31519	0.327	B	0.21360	0.034	T	0.20638	-1.0269	10	0.33141	T	0.24	.	2.335	0.04245	0.127:0.487:0.1115:0.2745	.	2887	Q6V1P9	PCD23_HUMAN	F	2887	ENSP00000349768:L2887F	ENSP00000349768:L2887F	L	-	3	2	DCHS2	155375228	0.128000	0.22383	0.006000	0.13384	0.203000	0.24098	0.678000	0.25277	0.415000	0.25817	0.655000	0.94253	TTG		0.463	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	
MROH5	389690	hgsc.bcm.edu	37	8	142476593	142476593	+	RNA	SNP	G	G	T			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr8:142476593G>T	ENST00000430863.1	-	0	2473					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5									p.T798N(1)									GGCGTGCAGGGTCTTTTCCTT	0.637																																																1	Substitution - Missense(1)	ovary(1)	8											76.0	88.0	84.0					8																	142476593		2144	4234	6378	142545775			389690					8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"""maestro heat-like repeat containing"""	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142476593G>T			142545775		Missense_Mutation	SNP	ENST00000430863.1	37																																																																																					0.637	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4	NM_207414	
HPS3	84343	hgsc.bcm.edu	37	3	148868392	148868392	+	Silent	SNP	C	C	T			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr3:148868392C>T	ENST00000296051.2	+	6	1310	c.1170C>T	c.(1168-1170)aaC>aaT	p.N390N	HPS3_ENST00000460120.1_Silent_p.N225N	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	390					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)		p.N390N(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TCAGTAACAACCTGCAGTGTT	0.552									Hermansky-Pudlak syndrome																																							1	Substitution - coding silent(1)	ovary(1)	3											111.0	98.0	103.0					3																	148868392		2203	4300	6503	150351082	SO:0001819	synonymous_variant	84343	Familial Cancer Database	HPS, HPS1-8	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.1170C>T	3.37:g.148868392C>T			150351082	A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Silent	SNP	ENST00000296051.2	37	CCDS3140.1																																																																																				0.552	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383	
IL20RA	53832	hgsc.bcm.edu	37	6	137323042	137323042	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr6:137323042C>T	ENST00000316649.5	-	7	1550	c.1315G>A	c.(1315-1317)Gca>Aca	p.A439T	RP11-204P2.3_ENST00000458017.1_RNA|IL20RA_ENST00000367748.1_Missense_Mutation_p.A328T|IL20RA_ENST00000541547.1_Missense_Mutation_p.A390T|IL20RA_ENST00000468393.1_5'Flank	NM_001278722.1|NM_014432.2	NP_001265651.1|NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	439					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of bone resorption (GO:0045124)	integral component of membrane (GO:0016021)		p.A439T(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		CCCAAGACTGCCAACGCTGCC	0.582																																																1	Substitution - Missense(1)	ovary(1)	6											75.0	64.0	68.0					6																	137323042		2203	4300	6503	137364735	SO:0001583	missense	53832			AF184971	CCDS5181.1, CCDS64535.1, CCDS64536.1	6q23.3	2008-02-05			ENSG00000016402	ENSG00000016402		"""Interleukins and interleukin receptors"""	6003	protein-coding gene	gene with protein product		605620				10875937, 11163236	Standard	NM_001278724		Approved	ZCYTOR7, IL-20R1	uc003qhj.3	Q9UHF4	OTTHUMG00000015654	ENST00000316649.5:c.1315G>A	6.37:g.137323042C>T	ENSP00000314976:p.Ala439Thr		137364735	B4DLR5|F5H675|Q14CW2|Q6UWA9|Q96SH8	Missense_Mutation	SNP	ENST00000316649.5	37	CCDS5181.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.251222	0.39797	.	.	ENSG00000016402	ENST00000316649;ENST00000367748;ENST00000541547	T;T;T	0.62788	0.27;1.73;0.0	5.76	3.05	0.35203	.	2.391960	0.01134	N	0.006042	T	0.30854	0.0778	L	0.31926	0.97	0.09310	N	1	B;B	0.25563	0.129;0.051	B;B	0.23419	0.046;0.02	T	0.10382	-1.0632	10	0.33940	T	0.23	-3.5837	7.5199	0.27622	0.0:0.6655:0.0:0.3345	.	328;439	Q9UHF4-2;Q9UHF4	.;I20RA_HUMAN	T	439;328;390	ENSP00000314976:A439T;ENSP00000356722:A328T;ENSP00000437843:A390T	ENSP00000314976:A439T	A	-	1	0	IL20RA	137364735	0.001000	0.12720	0.001000	0.08648	0.006000	0.05464	0.248000	0.18198	0.371000	0.24564	0.655000	0.94253	GCA		0.582	IL20RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042393.1	NM_014432	
NMUR2	56923	hgsc.bcm.edu	37	5	151784061	151784061	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr5:151784061G>A	ENST00000255262.3	-	1	779	c.614C>T	c.(613-615)aCg>aTg	p.T205M	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	205					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)	p.T205M(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			CTTGATGACCGTACAGGTGGC	0.542																																																2	Substitution - Missense(2)	ovary(1)|kidney(1)	5											173.0	166.0	169.0					5																	151784061		2203	4300	6503	151764254	SO:0001583	missense	56923			AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"""GPCR / Class A : Neuromedin U receptors"""	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.614C>T	5.37:g.151784061G>A	ENSP00000255262:p.Thr205Met		151764254	Q7LC54|Q96AM5|Q9NRA6	Missense_Mutation	SNP	ENST00000255262.3	37	CCDS4321.1	.	.	.	.	.	.	.	.	.	.	G	4.452	0.083741	0.08533	.	.	ENSG00000132911	ENST00000255262	T	0.38077	1.16	5.44	3.61	0.41365	GPCR, rhodopsin-like superfamily (1);	0.370788	0.28198	N	0.016226	T	0.28134	0.0694	L	0.45698	1.435	0.09310	N	1	P	0.40398	0.716	B	0.35655	0.207	T	0.10337	-1.0634	10	0.45353	T	0.12	0.2937	9.1507	0.36962	0.0759:0.0:0.767:0.1571	.	205	Q9GZQ4	NMUR2_HUMAN	M	205	ENSP00000255262:T205M	ENSP00000255262:T205M	T	-	2	0	NMUR2	151764254	0.998000	0.40836	0.001000	0.08648	0.057000	0.15508	4.073000	0.57570	0.622000	0.30249	-0.237000	0.12165	ACG		0.542	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1	NM_020167	
OR9G4	283189	hgsc.bcm.edu	37	11	56510545	56510545	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr11:56510545C>T	ENST00000302957.3	-	1	742	c.743G>A	c.(742-744)gGa>gAa	p.G248E		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	248						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G248E(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CTTGTGTCTTCCTGAAGCTGA	0.473																																																1	Substitution - Missense(1)	ovary(1)	11											152.0	126.0	135.0					11																	56510545		2201	4296	6497	56267121	SO:0001583	missense	283189			BK004400	CCDS31537.1	11q11	2012-08-09			ENSG00000172457	ENSG00000172457		"""GPCR / Class A : Olfactory receptors"""	15322	protein-coding gene	gene with protein product							Standard	NM_001005284		Approved		uc010rjo.2	Q8NGQ1	OTTHUMG00000166932	ENST00000302957.3:c.743G>A	11.37:g.56510545C>T	ENSP00000307515:p.Gly248Glu		56267121	Q6IF62|Q96RA9	Missense_Mutation	SNP	ENST00000302957.3	37	CCDS31537.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.236955	0.58886	.	.	ENSG00000172457	ENST00000302957	T	0.00287	8.29	5.07	5.07	0.68467	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38720	N	0.001588	T	0.00998	0.0033	M	0.91510	3.215	0.43841	D	0.996421	D	0.89917	1.0	D	0.97110	1.0	T	0.61831	-0.6982	10	0.87932	D	0	-14.5238	17.2062	0.86918	0.0:1.0:0.0:0.0	.	248	Q8NGQ1	OR9G4_HUMAN	E	248	ENSP00000307515:G248E	ENSP00000307515:G248E	G	-	2	0	OR9G4	56267121	0.185000	0.23213	1.000000	0.80357	0.717000	0.41224	2.268000	0.43338	2.636000	0.89361	0.643000	0.83706	GGA		0.473	OR9G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391945.1	NM_001005284	
SHISA3	152573	hgsc.bcm.edu	37	4	42403147	42403147	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr4:42403147G>C	ENST00000319234.4	+	2	614	c.396G>C	c.(394-396)caG>caC	p.Q132H		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	132					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.Q132H(1)		endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						CCTCGCAGCAGCCAATCCGCT	0.577																																																1	Substitution - Missense(1)	ovary(1)	4											189.0	202.0	197.0					4																	42403147		2203	4300	6503	42097904	SO:0001583	missense	152573			BC012029	CCDS33979.1	4p13	2013-07-31	2013-07-31		ENSG00000178343	ENSG00000178343		"""Shisa homologs"""	25159	protein-coding gene	gene with protein product			"""shisa homolog 3 (Xenopus laevis)"""				Standard	NM_001080505		Approved	hShisa3	uc003gwp.3	A0PJX4	OTTHUMG00000161043	ENST00000319234.4:c.396G>C	4.37:g.42403147G>C	ENSP00000326445:p.Gln132His		42097904	A0PJX3|Q96EQ5	Missense_Mutation	SNP	ENST00000319234.4	37	CCDS33979.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.364826	0.61513	.	.	ENSG00000178343	ENST00000319234	T	0.45668	0.89	4.94	2.24	0.28232	.	0.000000	0.85682	D	0.000000	T	0.55289	0.1911	M	0.61703	1.905	0.54753	D	0.99998	D	0.65815	0.995	D	0.68353	0.957	T	0.52457	-0.8573	10	0.62326	D	0.03	-11.5341	8.5436	0.33408	0.309:0.0:0.691:0.0	.	132	A0PJX4	SHSA3_HUMAN	H	132	ENSP00000326445:Q132H	ENSP00000326445:Q132H	Q	+	3	2	SHISA3	42097904	1.000000	0.71417	0.996000	0.52242	0.857000	0.48899	1.805000	0.38883	0.267000	0.21916	0.655000	0.94253	CAG		0.577	SHISA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363539.1	NM_001080505	
SLC26A5	375611	hgsc.bcm.edu	37	7	103018944	103018944	+	Silent	SNP	G	G	A	rs577037869		TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr7:103018944G>A	ENST00000306312.3	-	17	1995	c.1734C>T	c.(1732-1734)taC>taT	p.Y578Y	SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000393727.1_Silent_p.Y578Y|SLC26A5_ENST00000393730.1_Silent_p.Y546Y|SLC26A5_ENST00000354356.4_Silent_p.Y11Y|SLC26A5_ENST00000393729.1_Silent_p.Y541Y|SLC26A5_ENST00000432958.2_Silent_p.Y546Y|SLC26A5_ENST00000393723.1_Silent_p.Y546Y|SLC26A5_ENST00000339444.6_Silent_p.Y578Y	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	578	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)	p.Y578Y(1)		endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						CTTCCTTAGCGTACTTCCGCA	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		19434	0.001		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	ovary(1)	7											275.0	217.0	236.0					7																	103018944		2203	4300	6503	102806180	SO:0001819	synonymous_variant	375611			AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"""Solute carriers"""	9359	protein-coding gene	gene with protein product	"""deafness, neurosensory, autosomal recessive, 61"""	604943	"""prestin (motor protein)"""	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.1734C>T	7.37:g.103018944G>A			102806180	Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Silent	SNP	ENST00000306312.3	37	CCDS5733.1																																																																																				0.453	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1	NM_198999	
ST6GAL2	84620	hgsc.bcm.edu	37	2	107460328	107460328	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr2:107460328C>T	ENST00000409382.3	-	2	716	c.106G>A	c.(106-108)Gct>Act	p.A36T	AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.A36T|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.A36T	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	36					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)	p.A36T(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						ACAGGCTCAGCGGGGTTGCTG	0.577																																																1	Substitution - Missense(1)	ovary(1)	2											30.0	36.0	34.0					2																	107460328		2203	4300	6503	106826760	SO:0001583	missense	84620			AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.106G>A	2.37:g.107460328C>T	ENSP00000386942:p.Ala36Thr		106826760	D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	C	3.157	-0.173044	0.06421	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.31769	2.49;2.49;1.48	5.74	2.92	0.33932	.	0.571582	0.20534	N	0.090458	T	0.19208	0.0461	L	0.38838	1.175	0.09310	N	1	B;B	0.32203	0.36;0.07	B;B	0.20184	0.028;0.006	T	0.11227	-1.0596	10	0.29301	T	0.29	-16.6718	8.8195	0.35016	0.2694:0.6604:0.0:0.0703	.	36;36	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	T	36	ENSP00000355273:A36T;ENSP00000386942:A36T;ENSP00000387332:A36T	ENSP00000355273:A36T	A	-	1	0	ST6GAL2	106826760	0.943000	0.32029	0.006000	0.13384	0.136000	0.21042	1.717000	0.37991	0.738000	0.32606	-0.182000	0.12963	GCT		0.577	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528	
ASCC3	10973	hgsc.bcm.edu	37	6	100965891	100965891	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr6:100965891T>C	ENST00000369162.2	-	38	6247	c.5903A>G	c.(5902-5904)gAa>gGa	p.E1968G		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1968	SEC63 2.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)	p.E1968G(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		ATGATGGTTTTCTATGTTTGG	0.348																																																1	Substitution - Missense(1)	ovary(1)	6											83.0	84.0	84.0					6																	100965891		2203	4300	6503	101072612	SO:0001583	missense	10973			AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.5903A>G	6.37:g.100965891T>C	ENSP00000358159:p.Glu1968Gly		101072612	E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.320908	0.81469	.	.	ENSG00000112249	ENST00000369162	T	0.58358	0.34	4.83	4.83	0.62350	Sec63 domain (3);	0.000000	0.85682	D	0.000000	T	0.47451	0.1446	L	0.53249	1.67	0.80722	D	1	P	0.42296	0.775	P	0.51297	0.665	T	0.40961	-0.9535	10	0.23891	T	0.37	.	14.6995	0.69147	0.0:0.0:0.0:1.0	.	1968	Q8N3C0	HELC1_HUMAN	G	1968	ENSP00000358159:E1968G	ENSP00000358159:E1968G	E	-	2	0	ASCC3	101072612	1.000000	0.71417	0.938000	0.37757	0.940000	0.58332	7.905000	0.87416	1.947000	0.56498	0.377000	0.23210	GAA		0.348	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828	
CHD4	1108	hgsc.bcm.edu	37	12	6710554	6710554	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr12:6710554C>A	ENST00000357008.2	-	6	863	c.700G>T	c.(700-702)Gta>Tta	p.V234L	CHD4_ENST00000544040.1_Missense_Mutation_p.V227L|CHD4_ENST00000544484.1_Missense_Mutation_p.V231L|CHD4_ENST00000309577.6_Missense_Mutation_p.V234L	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	234	Poly-Ala.				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)	p.V234L(1)		central_nervous_system(2)	2						ACCACAGCTACCGCTGCTGCT	0.582																																					Colon(32;586 792 4568 16848 45314)											1	Substitution - Missense(1)	ovary(1)	12											85.0	92.0	90.0					12																	6710554		2203	4300	6503	6580815	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.700G>T	12.37:g.6710554C>A	ENSP00000349508:p.Val234Leu		6580815	Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.013513	0.54468	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464;ENST00000545942	D;D;D;D;T	0.90004	-2.59;-2.6;-2.6;-2.6;0.85	5.87	5.87	0.94306	.	0.225066	0.37809	N	0.001925	D	0.87609	0.6220	L	0.53249	1.67	0.50813	D	0.999898	B;B;B	0.32101	0.341;0.349;0.356	B;B;B	0.33454	0.085;0.079;0.164	D	0.83927	0.0304	10	0.23302	T	0.38	-0.6394	20.2084	0.98285	0.0:1.0:0.0:0.0	.	234;234;227	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	L	231;227;234;234;208;234	ENSP00000440392:V231L;ENSP00000440542:V227L;ENSP00000312419:V234L;ENSP00000349508:V234L;ENSP00000437506:V234L	ENSP00000312419:V234L	V	-	1	0	CHD4	6580815	.	.	0.981000	0.43875	0.826000	0.46750	.	.	2.774000	0.95407	0.650000	0.86243	GTA		0.582	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273	
DIP2B	57609	hgsc.bcm.edu	37	12	51097921	51097921	+	Splice_Site	SNP	A	A	T			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr12:51097921A>T	ENST00000301180.5	+	20	2359		c.e20-1			NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TTTGTCTCTTAGGTAATTCCA	0.363																																																1	Unknown(1)	ovary(1)	12											125.0	119.0	121.0					12																	51097921		2203	4300	6503	49384188	SO:0001630	splice_region_variant	57609			AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.2326-1A>T	12.37:g.51097921A>T			49384188	Q6B011|Q8N1L5|Q8NB38	Splice_Site	SNP	ENST00000301180.5	37	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	A	16.02	3.004284	0.54254	.	.	ENSG00000066084	ENST00000301180	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0991	0.72258	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DIP2B	49384188	1.000000	0.71417	0.886000	0.34754	0.489000	0.33432	8.991000	0.93514	2.216000	0.71823	0.533000	0.62120	.		0.363	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602	Intron
SIPA1L2	57568	hgsc.bcm.edu	37	1	232581296	232581296	+	Missense_Mutation	SNP	C	C	T	rs557448632		TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr1:232581296C>T	ENST00000366630.1	-	10	3690	c.3332G>A	c.(3331-3333)cGg>cAg	p.R1111Q	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R1111Q|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.R185Q			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1111					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)	p.R1111Q(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GGGCAGCTTCCGGTCGAAGGA	0.612																																																1	Substitution - Missense(1)	ovary(1)	1											35.0	40.0	38.0					1																	232581296		2014	4173	6187	230647919	SO:0001583	missense	57568			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.3332G>A	1.37:g.232581296C>T	ENSP00000355589:p.Arg1111Gln		230647919	Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.861376	0.51482	.	.	ENSG00000116991	ENST00000366630;ENST00000262861;ENST00000308942	T;T;T	0.60548	0.18;0.18;0.18	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.55289	0.1911	L	0.54323	1.7	0.43936	D	0.996594	P;D	0.54601	0.944;0.967	B;P	0.47044	0.182;0.535	T	0.50617	-0.8807	10	0.15499	T	0.54	-23.0501	12.6564	0.56790	0.0:0.9244:0.0:0.0756	.	1111;185	Q9P2F8;Q9P2F8-2	SI1L2_HUMAN;.	Q	1111;1111;185	ENSP00000355589:R1111Q;ENSP00000262861:R1111Q;ENSP00000309102:R185Q	ENSP00000262861:R1111Q	R	-	2	0	SIPA1L2	230647919	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.593000	0.61034	2.560000	0.86352	0.655000	0.94253	CGG		0.612	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839	
SLC12A6	9990	hgsc.bcm.edu	37	15	34532906	34532906	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr15:34532906C>A	ENST00000354181.3	-	19	2884	c.2392G>T	c.(2392-2394)Ggg>Tgg	p.G798W	SLC12A6_ENST00000458406.2_Missense_Mutation_p.G739W|SLC12A6_ENST00000560611.1_Missense_Mutation_p.G798W|SLC12A6_ENST00000558667.1_Missense_Mutation_p.G798W|SLC12A6_ENST00000397702.2_Missense_Mutation_p.G739W|SLC12A6_ENST00000451844.2_Missense_Mutation_p.G610W|SLC12A6_ENST00000290209.5_Missense_Mutation_p.G747W|SLC12A6_ENST00000397707.2_Missense_Mutation_p.G783W|SLC12A6_ENST00000558589.1_Missense_Mutation_p.G789W|SLC12A6_ENST00000560164.1_Missense_Mutation_p.G610W			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	798					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)	p.G747W(1)		central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	AGGAAGTTCCCCACGATGACA	0.468																																																1	Substitution - Missense(1)	ovary(1)	15											125.0	110.0	115.0					15																	34532906		2201	4298	6499	32320198	SO:0001583	missense	9990			AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.2392G>T	15.37:g.34532906C>A	ENSP00000346112:p.Gly798Trp		32320198	A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	ENST00000354181.3	37	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.714426	0.89112	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	D;D;D;D;D	0.96104	-3.91;-3.91;-3.91;-3.91;-3.91	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.98448	0.9483	H	0.95574	3.69	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;0.999;0.997	D	0.99560	1.0968	10	0.87932	D	0	.	17.1908	0.86879	0.0:1.0:0.0:0.0	.	783;798;747;610	Q9UHW9-3;Q9UHW9;A0AV76;B3KXX3	.;S12A6_HUMAN;.;.	W	747;783;789;739;739;610	ENSP00000290209:G747W;ENSP00000380819:G783W;ENSP00000380814:G739W;ENSP00000387725:G739W;ENSP00000390199:G610W	ENSP00000290209:G747W	G	-	1	0	SLC12A6	32320198	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.651000	0.83577	2.580000	0.87095	0.591000	0.81541	GGG		0.468	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135	
UBR4	23352	hgsc.bcm.edu	37	1	19518749	19518749	+	Nonsense_Mutation	SNP	G	G	A			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr1:19518749G>A	ENST00000375254.3	-	11	1354	c.1327C>T	c.(1327-1329)Cga>Tga	p.R443*	UBR4_ENST00000375217.2_Nonsense_Mutation_p.R443*|UBR4_ENST00000375226.2_Nonsense_Mutation_p.R443*|UBR4_ENST00000375267.2_Nonsense_Mutation_p.R443*	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	443					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R443*(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCTCTGACTCGGAGGGCAGCC	0.488																																																1	Substitution - Nonsense(1)	ovary(1)	1											68.0	70.0	69.0					1																	19518749		2203	4300	6503	19391336	SO:0001587	stop_gained	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.1327C>T	1.37:g.19518749G>A	ENSP00000364403:p.Arg443*		19391336	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Nonsense_Mutation	SNP	ENST00000375254.3	37	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	38	6.837197	0.97873	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	.	.	.	5.6	4.61	0.57282	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	.	14.3038	0.66373	0.0:0.0:0.7732:0.2268	.	.	.	.	X	443	.	ENSP00000364365:R443X	R	-	1	2	UBR4	19391336	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	6.148000	0.71788	2.630000	0.89119	0.591000	0.81541	CGA		0.488	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765	
ARHGAP32	9743	hgsc.bcm.edu	37	11	128855902	128855902	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr11:128855902A>C	ENST00000310343.9	-	14	1479	c.1480T>G	c.(1480-1482)Tac>Gac	p.Y494D	ARHGAP32_ENST00000524655.1_Missense_Mutation_p.Y420D|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.Y145D|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.Y145D	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	494	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)	p.Y145D(1)|p.Y494D(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GCTGACCTGTAGTGTGGTGGG	0.443																																																2	Substitution - Missense(2)	ovary(2)	11											85.0	76.0	79.0					11																	128855902		2201	4297	6498	128361112	SO:0001583	missense	9743			AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.1480T>G	11.37:g.128855902A>C	ENSP00000310561:p.Tyr494Asp		128361112	I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.784349	0.90282	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000524655;ENST00000457677;ENST00000527272;ENST00000356092	T;T;T;T	0.20200	2.09;2.09;2.09;2.09	5.85	5.85	0.93711	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.66056	0.2751	H	0.98849	4.35	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.81309	-0.0991	10	0.87932	D	0	.	16.2271	0.82306	1.0:0.0:0.0:0.0	.	428;494;312	Q86T64;A7KAX9;Q86UT2	.;RHG32_HUMAN;.	D	494;145;420;428;145;204	ENSP00000310561:Y494D;ENSP00000376425:Y145D;ENSP00000432468:Y420D;ENSP00000432862:Y145D	ENSP00000310561:Y494D	Y	-	1	0	ARHGAP32	128361112	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	8.962000	0.93254	2.234000	0.73211	0.460000	0.39030	TAC		0.443	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715	
TTN	7273	hgsc.bcm.edu	37	2	179469858	179469858	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0717-01A-01W-0370-10	TCGA-13-0717-10B-01W-0370-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	043708a3-ae61-4c62-b619-74715f26a2b6	0115b2b1-7489-4b65-8db7-47f8e6b313e2	g.chr2:179469858T>C	ENST00000591111.1	-	230	49347	c.49123A>G	c.(49123-49125)Ata>Gta	p.I16375V	TTN_ENST00000342992.6_Missense_Mutation_p.I15448V|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I9143V|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I9076V|TTN_ENST00000460472.2_Missense_Mutation_p.I8951V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I18016V			Q8WZ42	TITIN_HUMAN	titin	16375	Ig-like 100.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.I15448V(1)|p.I8951V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTTGGTTATCTGAAGTGCA	0.468																																																2	Substitution - Missense(2)	ovary(2)	2											150.0	138.0	142.0					2																	179469858		1879	4102	5981	179178103	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.49123A>G	2.37:g.179469858T>C	ENSP00000465570:p.Ile16375Val		179178103	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	10.55	1.381863	0.24944	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	5.78	5.78	0.91487	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.49864	0.1582	N	0.16862	0.45	0.33978	D	0.647679	P;P;P;P	0.35551	0.509;0.509;0.509;0.509	B;B;B;B	0.35470	0.203;0.203;0.203;0.203	T	0.66060	-0.6017	9	0.87932	D	0	.	16.1099	0.81255	0.0:0.0:0.0:1.0	.	8951;9076;9143;16375	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	15448;8951;9143;9076;8951	ENSP00000343764:I15448V;ENSP00000434586:I8951V;ENSP00000340554:I9143V;ENSP00000352154:I9076V	ENSP00000340554:I9143V	I	-	1	0	TTN	179178103	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	2.005000	0.40864	2.215000	0.71742	0.460000	0.39030	ATA		0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
