#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	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
PUM1	9698	broad.mit.edu	37	1	31409615	31409615	+	Missense_Mutation	SNP	A	A	C			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr1:31409615A>C	ENST00000257075.5	-	21	3397	c.3304T>G	c.(3304-3306)Tgc>Ggc	p.C1102G	PUM1_ENST00000373742.2_Missense_Mutation_p.C1043G|PUM1_ENST00000426105.2_Missense_Mutation_p.C1104G|PUM1_ENST00000440538.2_Missense_Mutation_p.C1078G|SNORD103A_ENST00000363284.1_RNA|PUM1_ENST00000373741.4_Missense_Mutation_p.C1140G|PUM1_ENST00000373747.3_Missense_Mutation_p.C1105G|PUM1_ENST00000423018.2_Missense_Mutation_p.C960G|PUM1_ENST00000424085.2_Missense_Mutation_p.C860G	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	1102	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.				membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TTCATGGTGCACACCTCATCG	0.522																																						uc001bsi.1																			0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(3304-3306)TGC>GGC		pumilio 1 isoform 2							168.0	125.0	140.0					1																	31409615		2203	4300	6503	SO:0001583	missense	9698				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	g.chr1:31409615A>C	AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"""pumilio (Drosophila) homolog 1"", ""pumilio homolog 1 (Drosophila)"""				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.3304T>G	1.37:g.31409615A>C	ENSP00000257075:p.Cys1102Gly					PUM1_uc001bsf.1_Missense_Mutation_p.C770G|PUM1_uc001bsg.1_Missense_Mutation_p.C836G|PUM1_uc001bsh.1_Missense_Mutation_p.C1104G|PUM1_uc001bsj.1_Missense_Mutation_p.C1078G|PUM1_uc010oga.1_Missense_Mutation_p.C960G|PUM1_uc001bsk.1_Missense_Mutation_p.C1140G|PUM1_uc010ogb.1_Missense_Mutation_p.C1043G|SNORD103A_uc009vts.1_Intron	p.C1102G	NM_014676	NP_055491	Q14671	PUM1_HUMAN		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)	21	3417	-		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	1102			PUM-HD.		A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	ENST00000257075.5	37	c.3304T>G	CCDS338.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	29.7|29.7|29.7	5.030927|5.030927|5.030927	0.93575|0.93575|0.93575	.|.|.	.|.|.	ENSG00000134644|ENSG00000134644|ENSG00000134644	ENST00000424085;ENST00000257075;ENST00000373747;ENST00000373749;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742;ENST00000529846|ENST00000525997|ENST00000525843;ENST00000498419	T;T;T;T;T;T;T;T;T|.|T;T	0.13778|.|0.14766	2.56;2.56;2.56;2.56;2.56;2.56;2.56;2.56;2.56|.|2.48;2.48	5.78|5.78|5.78	5.78|5.78|5.78	0.91487|0.91487|0.91487	Armadillo-like helical (1);Armadillo-type fold (1);|.|.	0.000000|0.000000|.	0.85682|0.85682|.	D|D|.	0.000000|0.000000|.	T|T|T	0.38054|0.38054|0.38054	0.1026|0.1026|0.1026	M|M|M	0.82923|0.82923|0.82923	2.615|2.615|2.615	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;P;D;D;P;D;D|.|.	0.63880|.|.	0.977;0.964;0.925;0.991;0.977;0.925;0.977;0.993|.|.	P;P;P;P;P;P;P;D|.|.	0.65323|.|.	0.896;0.69;0.768;0.883;0.896;0.624;0.896;0.934|.|.	T|T|T	0.18903|0.18903|0.18903	-1.0322|-1.0322|-1.0322	10|6|6	0.87932|.|.	D|.|.	0|.|.	-7.478|-7.478|-7.478	16.1115|16.1115|16.1115	0.81266|0.81266|0.81266	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	1043;960;1140;1078;1102;1104;1105;1104|.|.	B4DG92;E7EWT3;Q5T1Z8;Q14671-2;Q14671;E9PCJ0;Q5T1Z4;Q53HH5|.|.	.;.;.;.;PUM1_HUMAN;.;.;.|.|.	G|W|G	860;1102;1105;842;1104;1078;1140;960;1043;213|202|1040;815	ENSP00000400141:C860G;ENSP00000257075:C1102G;ENSP00000362852:C1105G;ENSP00000391723:C1104G;ENSP00000401777:C1078G;ENSP00000362846:C1140G;ENSP00000399440:C960G;ENSP00000362847:C1043G;ENSP00000431213:C213G|.|ENSP00000435825:V1040G;ENSP00000433850:V815G	ENSP00000257075:C1102G|.|.	C|C|V	-|-|-	1|3|2	0|2|0	PUM1|PUM1|PUM1	31182202|31182202|31182202	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.998000|0.998000|0.998000	0.56505|0.56505|0.56505	0.980000|0.980000|0.980000	0.70556|0.70556|0.70556	9.339000|9.339000|9.339000	0.96797|0.96797|0.96797	2.207000|2.207000|2.207000	0.71202|0.71202|0.71202	0.460000|0.460000|0.460000	0.39030|0.39030|0.39030	TGC|TGT|GTG		0.522	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1		
SOAT1	6646	broad.mit.edu	37	1	179304764	179304764	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr1:179304764G>A	ENST00000367619.3	+	4	444	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K	SOAT1_ENST00000540564.1_Missense_Mutation_p.E43K|SOAT1_ENST00000535686.1_5'UTR|SOAT1_ENST00000539888.1_Missense_Mutation_p.E36K	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	101					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol storage (GO:0010878)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|sterol O-acyltransferase activity (GO:0004772)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	TTCTGTTCTTGAAGGAGAGAA	0.393																																						uc001gml.2																			0				central_nervous_system(1)|skin(1)	2						c.(301-303)GAA>AAA		sterol O-acyltransferase 1	Ezetimibe(DB00973)|Hesperetin(DB01094)						124.0	121.0	122.0					1																	179304764		2203	4300	6503	SO:0001583	missense	6646				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr1:179304764G>A	L21934	CCDS1330.1, CCDS58047.1, CCDS58048.1	1q25	2008-08-26	2008-08-26		ENSG00000057252	ENSG00000057252	2.3.1.26		11177	protein-coding gene	gene with protein product	"""acyl-Coenzyme A: cholesterol acyltransferase"""	102642	"""sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1"""	SOAT, STAT		8407899	Standard	NM_003101		Approved	ACAT	uc001gml.3	P35610	OTTHUMG00000035253	ENST00000367619.3:c.301G>A	1.37:g.179304764G>A	ENSP00000356591:p.Glu101Lys					SOAT1_uc010pni.1_Missense_Mutation_p.E36K|SOAT1_uc001gmm.2_Missense_Mutation_p.E43K|SOAT1_uc010pnj.1_5'UTR|SOAT1_uc010pnk.1_Missense_Mutation_p.E36K	p.E101K	NM_003101	NP_003092	P35610	SOAT1_HUMAN			4	364	+			101					A6NC40|A8K3P4|A9Z1V7|B4DU95|Q5T0X4|Q8N1E4	Missense_Mutation	SNP	ENST00000367619.3	37	c.301G>A	CCDS1330.1	.	.	.	.	.	.	.	.	.	.	G	8.512	0.866777	0.17250	.	.	ENSG00000057252	ENST00000539888;ENST00000540564;ENST00000367619;ENST00000426956	T;T;T;T	0.19938	2.11;2.11;2.11;2.11	5.13	-1.58	0.08479	.	0.564437	0.18593	N	0.136678	T	0.07908	0.0198	N	0.16478	0.41	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.36311	-0.9753	10	0.06099	T	0.92	-31.1438	5.1765	0.15137	0.5018:0.2321:0.2661:0.0	.	43;101	A8K3P4;P35610	.;SOAT1_HUMAN	K	36;43;101;101	ENSP00000441356:E36K;ENSP00000445315:E43K;ENSP00000356591:E101K;ENSP00000411309:E101K	ENSP00000356591:E101K	E	+	1	0	SOAT1	177571387	0.996000	0.38824	0.993000	0.49108	0.978000	0.69477	0.623000	0.24447	0.157000	0.19338	0.655000	0.94253	GAA		0.393	SOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085286.2	NM_003101	
SOAT1	6646	broad.mit.edu	37	1	179304793	179304793	+	Splice_Site	SNP	G	G	C			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr1:179304793G>C	ENST00000367619.3	+	4	472		c.e4+1		SOAT1_ENST00000540564.1_Splice_Site|SOAT1_ENST00000535686.1_Splice_Site|SOAT1_ENST00000539888.1_Splice_Site	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1						cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol storage (GO:0010878)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|sterol O-acyltransferase activity (GO:0004772)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	ATAGAGCGAAGTAAGTATGTG	0.398																																						uc001gml.2																			0				central_nervous_system(1)|skin(1)	2						c.e4+1		sterol O-acyltransferase 1	Ezetimibe(DB00973)|Hesperetin(DB01094)						107.0	105.0	106.0					1																	179304793		2203	4300	6503	SO:0001630	splice_region_variant	6646				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr1:179304793G>C	L21934	CCDS1330.1, CCDS58047.1, CCDS58048.1	1q25	2008-08-26	2008-08-26		ENSG00000057252	ENSG00000057252	2.3.1.26		11177	protein-coding gene	gene with protein product	"""acyl-Coenzyme A: cholesterol acyltransferase"""	102642	"""sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1"""	SOAT, STAT		8407899	Standard	NM_003101		Approved	ACAT	uc001gml.3	P35610	OTTHUMG00000035253	ENST00000367619.3:c.329+1G>C	1.37:g.179304793G>C						SOAT1_uc010pni.1_Splice_Site_p.K45_splice|SOAT1_uc001gmm.2_Splice_Site_p.K52_splice|SOAT1_uc010pnj.1_Splice_Site|SOAT1_uc010pnk.1_Splice_Site_p.K45_splice	p.K110_splice	NM_003101	NP_003092	P35610	SOAT1_HUMAN			4	392	+								A6NC40|A8K3P4|A9Z1V7|B4DU95|Q5T0X4|Q8N1E4	Splice_Site	SNP	ENST00000367619.3	37	c.329_splice	CCDS1330.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.094465	0.36952	.	.	ENSG00000057252	ENST00000539888;ENST00000540564;ENST00000367619;ENST00000426956	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3443	0.83117	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SOAT1	177571416	1.000000	0.71417	1.000000	0.80357	0.241000	0.25554	6.078000	0.71282	2.440000	0.82611	0.655000	0.94253	.		0.398	SOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085286.2	NM_003101	Intron
KCNT2	343450	broad.mit.edu	37	1	196398829	196398829	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr1:196398829G>T	ENST00000294725.9	-	9	1612	c.697C>A	c.(697-699)Ctt>Att	p.L233I	KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000609185.1_Missense_Mutation_p.L233I|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367433.5_Missense_Mutation_p.L233I|KCNT2_ENST00000367431.4_Missense_Mutation_p.L233I			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	233					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CAGAAATAAAGGGAGTCAAAG	0.393																																						uc001gtd.1																			0				ovary(5)|breast(1)|skin(1)	7						c.(697-699)CTT>ATT		potassium channel, subfamily T, member 2							99.0	88.0	92.0					1																	196398829		2203	4300	6503	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196398829G>T	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.697C>A	1.37:g.196398829G>T	ENSP00000294725:p.Leu233Ile					KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.L233I|KCNT2_uc001gtf.1_Missense_Mutation_p.L233I|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.2_Missense_Mutation_p.L233I|KCNT2_uc009wyv.1_Missense_Mutation_p.L208I	p.L233I	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN			9	757	-			233					Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.697C>A	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.371277	0.42003	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000535608;ENST00000294725	T;T;T	0.32988	1.43;1.43;1.43	5.31	5.31	0.75309	Ion transport 2 (1);	0.000000	0.48767	D	0.000169	T	0.28863	0.0716	L	0.42245	1.32	0.80722	D	1	B;B;B;B	0.33288	0.406;0.11;0.027;0.406	B;B;B;B	0.34385	0.181;0.114;0.028;0.181	T	0.04946	-1.0916	10	0.11794	T	0.64	-18.9755	18.9677	0.92702	0.0:0.0:1.0:0.0	.	233;233;233;233	A9LNM6;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	I	233;233;54;233	ENSP00000356403:L233I;ENSP00000356401:L233I;ENSP00000294725:L233I	ENSP00000294725:L233I	L	-	1	0	KCNT2	194665452	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	5.415000	0.66411	2.487000	0.83934	0.655000	0.94253	CTT		0.393	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503	
MICU1	10367	broad.mit.edu	37	10	74234889	74234889	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr10:74234889C>T	ENST00000361114.5	-	8	998	c.902G>A	c.(901-903)cGt>cAt	p.R301H	MICU1_ENST00000398763.4_Missense_Mutation_p.R103H|MICU1_ENST00000401998.3_Missense_Mutation_p.R301H|MICU1_ENST00000418483.2_Missense_Mutation_p.R103H|MICU1_ENST00000398761.4_Missense_Mutation_p.R303H	NM_001195518.1|NM_006077.3	NP_001182447.1|NP_006068.2	Q9BPX6	MICU1_HUMAN	mitochondrial calcium uptake 1	301					calcium ion import (GO:0070509)|calcium ion transmembrane import into mitochondrion (GO:0036444)|defense response (GO:0006952)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein homooligomerization (GO:0051260)	calcium channel complex (GO:0034704)|integral component of mitochondrial membrane (GO:0032592)|intracellular (GO:0005622)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)										CTGCAGTTTACGCTGAAATTC	0.463																																						uc001jtb.1																			0				ovary(1)	1						c.(907-909)CGT>CAT		calcium binding atopy-related autoantigen 1							80.0	79.0	79.0					10																	74234889		2026	4199	6225	SO:0001583	missense	10367				calcium ion import|defense response|elevation of mitochondrial calcium ion concentration	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr10:74234889C>T	Y17711	CCDS55714.1, CCDS55715.1	10q22.1	2013-01-10	2011-06-23	2011-06-23	ENSG00000107745	ENSG00000107745		"""EF-hand domain containing"""	1530	protein-coding gene	gene with protein product		605084	"""calcium binding atopy-related autoantigen 1"""	CBARA1		9806765, 20693986	Standard	NM_006077		Approved	CALC, EFHA3, FLJ12684	uc001jtb.2	Q9BPX6	OTTHUMG00000018437	ENST00000361114.5:c.902G>A	10.37:g.74234889C>T	ENSP00000354415:p.Arg301His					CBARA1_uc010qjw.1_Missense_Mutation_p.R103H|CBARA1_uc010qjx.1_Missense_Mutation_p.R103H|CBARA1_uc009xqo.1_RNA	p.R303H	NM_006077	NP_006068	Q9BPX6	MICU1_HUMAN			9	1041	-			301					A8MV96|B3KN20|B4DJH9|B4DPI1|B5MBY3|D3YTJ3|O75785|Q9H9N6|Q9UFX0	Missense_Mutation	SNP	ENST00000361114.5	37	c.908G>A	CCDS55715.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.792021	0.50102	.	.	ENSG00000107745	ENST00000361114;ENST00000398761;ENST00000401998;ENST00000418483;ENST00000398763	T;T;T;T;T	0.80480	2.0;-1.38;2.0;0.99;0.51	5.23	4.32	0.51571	EF-hand-like domain (1);	0.055984	0.64402	D	0.000002	T	0.69726	0.3143	L	0.27053	0.805	0.80722	D	1	B;B;B	0.10296	0.003;0.003;0.002	B;B;B	0.08055	0.003;0.003;0.001	T	0.65886	-0.6059	10	0.37606	T	0.19	.	14.0729	0.64870	0.0:0.926:0.0:0.074	.	103;103;301	Q9BPX6-4;Q9BPX6-5;Q9BPX6	.;.;MICU1_HUMAN	H	301;303;301;103;103	ENSP00000354415:R301H;ENSP00000381745:R303H;ENSP00000384068:R301H;ENSP00000402470:R103H;ENSP00000381747:R103H	ENSP00000354415:R301H	R	-	2	0	MICU1	73904895	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.952000	0.63618	2.445000	0.82738	0.650000	0.86243	CGT		0.463	MICU1-002	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048586.1	NM_006077	
PTEN	5728	broad.mit.edu	37	10	89720799	89720802	+	Frame_Shift_Del	DEL	TACT	TACT	-	rs146650273		TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr10:89720799_89720802delTACT	ENST00000371953.3	+	8	2307_2310	c.950_953delTACT	c.(949-954)gtacttfs	p.VL317fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	317	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.L318fs*2(19)|p.T319fs*1(12)|p.R55fs*1(5)|p.V317fs*3(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.V317fs*6(2)|p.G165_*404del(1)|p.L316fs*1(1)|p.W274_F341del(1)|p.V317_K322del(1)|p.L318F(1)|p.T318fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GAATATCTAGTACTTACTTTAACA	0.333	V317fs*3(EVSAT_BREAST)|V317fs*3(IGROV1_OVARY)|V317fs*3(ISHIKAWAHERAKLIO02ER_ENDOMETRIUM)|V317fs*3(SKUT1_SOFT_TISSUE)	31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2	V317fs*3(SKUT1_SOFT_TISSUE)|V317fs*3(EVSAT_BREAST)|V317fs*3(IGROV1_OVARY)|V317fs*3(ISHIKAWAHERAKLIO02ER_ENDOMETRIUM)	31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		91	Deletion - Frameshift(48)|Whole gene deletion(37)|Deletion - In frame(3)|Unknown(2)|Substitution - Missense(1)	p.L318fs*2(17)|p.V317fs*3(16)|p.R55fs*1(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.V317fs*6(2)|p.G165_*404del(1)|p.G165_K342del(1)|p.L316fs*1(1)|p.W274_F341del(1)|p.V317_K322del(1)|p.L318F(1)|p.T318fs*2(1)	endometrium(23)|central_nervous_system(18)|prostate(17)|breast(8)|skin(7)|ovary(5)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|soft_tissue(2)|urinary_tract(2)|thyroid(1)|large_intestine(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334						c.(949-954)GTACTTfs		phosphatase and tensin homolog																																				SO:0001589	frameshift_variant	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720799_89720802delTACT	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.950_953delTACT	10.37:g.89720803_89720806delTACT	ENSP00000361021:p.Val317fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.V317fs	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	9	1981_1984	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	317_318			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	c.950_953delTACT	CCDS31238.1																																																																																				0.333	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
MEN1	4221	broad.mit.edu	37	11	64575552	64575552	+	Silent	SNP	G	G	A			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr11:64575552G>A	ENST00000337652.1	-	3	983	c.480C>T	c.(478-480)tcC>tcT	p.S160S	MEN1_ENST00000377313.1_Silent_p.S160S|MEN1_ENST00000394374.2_Silent_p.S160S|MEN1_ENST00000478548.1_5'Flank|MEN1_ENST00000377326.3_Silent_p.S155S|MEN1_ENST00000443283.1_Silent_p.S160S|MEN1_ENST00000377316.2_Silent_p.S155S|MEN1_ENST00000315422.4_Silent_p.S155S|MEN1_ENST00000377321.1_Silent_p.S155S|MEN1_ENST00000394376.1_Silent_p.S160S|MEN1_ENST00000312049.6_Silent_p.S155S	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	160			S -> F (in MEN1). {ECO:0000269|PubMed:10534569}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						AGGCCACACCGGAGCTGTCCA	0.602			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	uc001obj.2			yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	D|Mis|N|F|S	multiple endocrine neoplasia type 1 gene			E		parathyroid adenoma|pituitary adenoma|pancreatic islet cell|carcinoid	parathyroid tumors|Pancreatic neuroendocrine tumors		0				parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(9)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1)	238						c.(478-480)TCC>TCT		menin isoform 1							28.0	31.0	30.0					11																	64575552		2201	4297	6498	SO:0001819	synonymous_variant	4221	Hyperparathyroidism_Familial_Isolated|Multiple_Endocrine_Neoplasia_type_1	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	g.chr11:64575552G>A	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"""menin"""	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.480C>T	11.37:g.64575552G>A						MEN1_uc001obk.2_Silent_p.S160S|MEN1_uc001obl.2_Silent_p.S155S|MEN1_uc001obm.2_Silent_p.S155S|MEN1_uc001obn.2_Silent_p.S160S|MEN1_uc001obo.2_Silent_p.S160S|MEN1_uc001obp.2_Silent_p.S155S|MEN1_uc001obq.2_Silent_p.S160S|MEN1_uc001obr.2_Silent_p.S160S	p.S160S	NM_130800	NP_570712	O00255	MEN1_HUMAN			3	553	-			160		S -> F (in MEN1).			A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Silent	SNP	ENST00000337652.1	37	c.480C>T	CCDS8083.1																																																																																				0.602	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1		
MTNR1B	4544	broad.mit.edu	37	11	92715286	92715286	+	Silent	SNP	C	C	T			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr11:92715286C>T	ENST00000257068.2	+	2	903	c.897C>T	c.(895-897)ttC>ttT	p.F299F		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	299					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	TGGCTTATTTCAACAGCTGCC	0.522																																						uc001pdk.1																			0				ovary(1)|central_nervous_system(1)	2						c.(895-897)TTC>TTT		melatonin receptor 1B	Ramelteon(DB00980)						190.0	197.0	195.0					11																	92715286		2201	4298	6499	SO:0001819	synonymous_variant	4544				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	g.chr11:92715286C>T	AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"""GPCR / Class A : Melatonin receptors"""	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.897C>T	11.37:g.92715286C>T							p.F299F	NM_005959	NP_005950	P49286	MTR1B_HUMAN			2	1000	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	299			Helical; Name=7; (Potential).			Silent	SNP	ENST00000257068.2	37	c.897C>T	CCDS8290.1																																																																																				0.522	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1		
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	uc001rgp.1	G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			pancreatic|colorectal|lung|thyroid|AML|others		15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052						c.(34-36)GGT>GAT		c-K-ras2 protein isoform a precursor							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Cardiofaciocutaneous_syndrome|Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_RNA	p.G12D	NM_033360	NP_203524	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	216	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).	GTP.		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360	
ADCY6	112	broad.mit.edu	37	12	49169145	49169145	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr12:49169145G>A	ENST00000307885.4	-	10	2615	c.1921C>T	c.(1921-1923)Cgg>Tgg	p.R641W	ADCY6_ENST00000550422.1_Missense_Mutation_p.R641W|ADCY6_ENST00000357869.3_Missense_Mutation_p.R641W|ADCY6_ENST00000552090.1_5'UTR	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	641					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						TGGTCCTTCCGCAGCTGATCA	0.597																																						uc001rsh.3																			0					0						c.(1921-1923)CGG>TGG		adenylate cyclase 6 isoform a							81.0	70.0	74.0					12																	49169145		2203	4300	6503	SO:0001583	missense	112				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	g.chr12:49169145G>A		CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"""Adenylate cyclases"""	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.1921C>T	12.37:g.49169145G>A	ENSP00000311405:p.Arg641Trp					ADCY6_uc001rsj.3_Missense_Mutation_p.R641W|ADCY6_uc001rsi.3_Missense_Mutation_p.R641W|ADCY6_uc010slw.1_5'Flank	p.R641W	NM_015270	NP_056085	O43306	ADCY6_HUMAN			10	2581	-			641			Cytoplasmic (Potential).		Q9NR75|Q9UDB0	Missense_Mutation	SNP	ENST00000307885.4	37	c.1921C>T	CCDS8767.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443122	0.83993	.	.	ENSG00000174233	ENST00000357869;ENST00000550422;ENST00000307885	T;T;T	0.80738	-1.41;-1.41;-1.41	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.89832	0.6829	M	0.78456	2.415	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.91031	0.4864	10	0.87932	D	0	.	17.614	0.88063	0.0:0.0:1.0:0.0	.	641;641	O43306-2;O43306	.;ADCY6_HUMAN	W	641	ENSP00000350536:R641W;ENSP00000446730:R641W;ENSP00000311405:R641W	ENSP00000311405:R641W	R	-	1	2	ADCY6	47455412	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.148000	0.64857	2.533000	0.85409	0.557000	0.71058	CGG		0.597	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	NM_020983	
SLC5A8	160728	broad.mit.edu	37	12	101555815	101555815	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr12:101555815A>G	ENST00000536262.2	-	13	2125	c.1567T>C	c.(1567-1569)Tac>Cac	p.Y523H		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GTGCTGAAGTACAGATATGAT	0.358																																					GBM(60;420 1056 13605 22380 47675)	uc001thz.3																			0					0						c.(1567-1569)TAC>CAC		solute carrier family 5 (iodide transporter),							187.0	189.0	188.0					12																	101555815		2203	4300	6503	SO:0001583	missense	160728				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	g.chr12:101555815A>G	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.1567T>C	12.37:g.101555815A>G	ENSP00000445340:p.Tyr523His						p.Y523H	NM_145913	NP_666018	Q8N695	SC5A8_HUMAN			13	1957	-			523			Helical; (Potential).			Missense_Mutation	SNP	ENST00000536262.2	37	c.1567T>C	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	A	19.74	3.883634	0.72410	.	.	ENSG00000256870	ENST00000536262	T	0.72725	-0.68	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.73806	0.3634	M	0.76328	2.33	0.80722	D	1	P	0.46621	0.881	P	0.44518	0.452	T	0.77360	-0.2617	10	0.52906	T	0.07	.	14.5812	0.68292	1.0:0.0:0.0:0.0	.	523	Q8N695	SC5A8_HUMAN	H	523	ENSP00000445340:Y523H	ENSP00000445340:Y523H	Y	-	1	0	SLC5A8	100079946	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	5.782000	0.68973	2.098000	0.63641	0.477000	0.44152	TAC		0.358	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913	
DYX1C1	161582	broad.mit.edu	37	15	55790519	55790520	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr15:55790519_55790520delAA	ENST00000321149.3	-	2	375_376	c.8_9delTT	c.(7-9)cttfs	p.L3fs	DYX1C1_ENST00000457155.2_Frame_Shift_Del_p.L3fs|DYX1C1_ENST00000348518.3_Frame_Shift_Del_p.L3fs|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000448430.2_Frame_Shift_Del_p.L3fs|DYX1C1_ENST00000380679.1_Frame_Shift_Del_p.L3fs	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	3	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.				cilium movement (GO:0003341)|determination of left/right symmetry (GO:0007368)|inner dynein arm assembly (GO:0036159)|neuron migration (GO:0001764)|outer dynein arm assembly (GO:0036158)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of proteasomal protein catabolic process (GO:0061136)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		CGCTAACCTGAAGAGGCATTCC	0.599																																						uc002adc.2																			0				skin(1)	1						c.(7-9)CTTfs		dyslexia susceptibility 1 candidate 1 isoform a																																				SO:0001589	frameshift_variant	161582				neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding	g.chr15:55790519_55790520delAA		CCDS10154.1, CCDS32243.1, CCDS32244.1	15q21.3	2014-09-11			ENSG00000256061	ENSG00000256061		"""Tetratricopeptide (TTC) repeat domain containing"""	21493	protein-coding gene	gene with protein product		608706				12954984	Standard	NM_130810		Approved	EKN1, FLJ37882, CILD25	uc002adc.3	Q8WXU2	OTTHUMG00000132008	ENST00000321149.3:c.8_9delTT	15.37:g.55790519_55790520delAA	ENSP00000323275:p.Leu3fs					CCPG1_uc002acy.2_5'UTR|DYX1C1_uc010ugh.1_RNA|DYX1C1_uc010ugi.1_RNA|DYX1C1_uc002adb.2_Frame_Shift_Del_p.L3fs|DYX1C1_uc002add.2_Frame_Shift_Del_p.L3fs	p.L3fs	NM_130810	NP_570722	Q8WXU2	DYXC1_HUMAN		all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)	2	376_377	-			3			CS.		Q6P5Y9|Q8N1S6	Frame_Shift_Del	DEL	ENST00000321149.3	37	c.8_9delTT	CCDS10154.1																																																																																				0.599	DYX1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254976.1	NM_130810	
GOLGA6A	342096	broad.mit.edu	37	15	74365151	74365151	+	Missense_Mutation	SNP	A	A	C			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr15:74365151A>C	ENST00000290438.3	-	13	1473	c.1433T>G	c.(1432-1434)cTa>cGa	p.L478R	RN7SL429P_ENST00000479090.2_RNA	NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN	golgin A6 family, member A	478						Golgi apparatus (GO:0005794)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						GGCAGCTTCTAGGTGCTCCTA	0.612																																						uc002axa.1																			0					0						c.(1432-1434)CTA>CGA		golgi autoantigen, golgin subfamily a, 6							87.0	109.0	101.0					15																	74365151		2167	4297	6464	SO:0001583	missense	342096							g.chr15:74365151A>C	AF263742	CCDS32290.1	15q24.1	2013-05-10	2010-02-12	2009-09-28	ENSG00000159289	ENSG00000159289			13567	protein-coding gene	gene with protein product		610288	"""golgi autoantigen, golgin subfamily a, member 6"", ""golgi autoantigen, golgin subfamily a, 6"", ""golgi autoantigen, golgin subfamily a, 6A"""	GOLGA6		11161787	Standard	NM_001038640		Approved	GLP	uc002axa.1	Q9NYA3	OTTHUMG00000173035	ENST00000290438.3:c.1433T>G	15.37:g.74365151A>C	ENSP00000290438:p.Leu478Arg						p.L478R	NM_001038640	NP_001033729	Q9NYA3	GOG6A_HUMAN			13	1474	-			478			Potential.		A8K959|Q9NYA7	Missense_Mutation	SNP	ENST00000290438.3	37	c.1433T>G	CCDS32290.1	.	.	.	.	.	.	.	.	.	.	a	13.66	2.302386	0.40694	.	.	ENSG00000159289	ENST00000290438	T	0.39997	1.05	1.52	1.52	0.23074	.	.	.	.	.	T	0.48822	0.1521	M	0.75085	2.285	0.28724	N	0.902869	P	0.45044	0.849	P	0.50791	0.65	T	0.42965	-0.9420	9	0.46703	T	0.11	.	5.2399	0.15465	1.0:0.0:0.0:0.0	.	478	Q9NYA3	GOG6A_HUMAN	R	478	ENSP00000290438:L478R	ENSP00000290438:L478R	L	-	2	0	GOLGA6A	72152204	1.000000	0.71417	0.221000	0.23827	0.039000	0.13416	5.284000	0.65627	0.972000	0.38314	0.128000	0.15822	CTA		0.612	GOLGA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421835.1	XM_292357	
GOLGA6D	653643	broad.mit.edu	37	15	75580652	75580652	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr15:75580652G>A	ENST00000434739.3	+	7	552	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K		NM_001145224.1	NP_001138696.1	P0CG33	GOG6D_HUMAN	golgin A6 family, member D	171						Golgi apparatus (GO:0005794)				kidney(1)|lung(1)	2						GCATATTCAAGAATTGGAGCG	0.557																																						uc010uma.1																			0					0						c.(511-513)GAA>AAA		golgi autoantigen, golgin subfamily a, 6D							23.0	22.0	23.0					15																	75580652		683	1581	2264	SO:0001583	missense	653643							g.chr15:75580652G>A		CCDS45308.1	15q24.2	2013-05-10	2010-02-12	2009-09-04	ENSG00000140478	ENSG00000140478			32204	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6D"""				Standard	NM_001145224		Approved		uc010uma.2	P0CG33	OTTHUMG00000172672	ENST00000434739.3:c.511G>A	15.37:g.75580652G>A	ENSP00000391085:p.Glu171Lys					uc010umb.1_5'Flank	p.E171K	NM_001145224	NP_001138696	P0CG33	GOG6D_HUMAN			7	546	+			171			Potential.			Missense_Mutation	SNP	ENST00000434739.3	37	c.511G>A	CCDS45308.1	.	.	.	.	.	.	.	.	.	.	-	17.48	3.399152	0.62177	.	.	ENSG00000140478	ENST00000434739	T	0.44482	0.92	1.57	1.57	0.23409	.	.	.	.	.	T	0.62208	0.2409	M	0.83603	2.65	0.45261	D	0.998265	D	0.60575	0.988	D	0.75484	0.986	T	0.65894	-0.6057	9	0.72032	D	0.01	.	9.1585	0.37007	0.0:0.0:1.0:0.0	.	171	P0CG33	GOG6D_HUMAN	K	171	ENSP00000391085:E171K	ENSP00000391085:E171K	E	+	1	0	GOLGA6D	73367705	1.000000	0.71417	0.179000	0.23059	0.170000	0.22686	5.501000	0.66950	1.194000	0.43101	0.186000	0.17326	GAA		0.557	GOLGA6D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419798.1	NM_001145224	
TTLL13	440307	broad.mit.edu	37	15	90802040	90802040	+	Silent	SNP	C	C	T			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr15:90802040C>T	ENST00000339615.5	+	10	1523	c.1233C>T	c.(1231-1233)ctC>ctT	p.L411L	TTLL13_ENST00000438251.1_Silent_p.L411L|RP11-697E2.6_ENST00000561573.1_3'UTR	NM_001029964.2	NP_001025135.2			tubulin tyrosine ligase-like family, member 13											NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			ATGCACTTCTCTGTGATGCTA	0.512																																						uc002bpd.1																			0					0						c.(1231-1233)CTC>CTT		tubulin tyrosine ligase-like family, member 13							160.0	126.0	138.0					15																	90802040		2199	4298	6497	SO:0001819	synonymous_variant	440307				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr15:90802040C>T	BC036668		15q26.1	2013-02-14				ENSG00000213471		"""Tubulin tyrosine ligase-like family"""	32484	protein-coding gene	gene with protein product						15890843	Standard	NR_104604		Approved	FLJ46079, MGC33417	uc002bpd.1	A6NNM8		ENST00000339615.5:c.1233C>T	15.37:g.90802040C>T						TTLL13_uc002bpe.1_RNA	p.L411L	NM_001029964	NP_001025135	A6NNM8	TTL13_HUMAN	KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)		10	1521	+	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		411			TTL.			Silent	SNP	ENST00000339615.5	37	c.1233C>T	CCDS32328.1																																																																																				0.512	TTLL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435854.1	NM_001029964	
DNAH3	55567	broad.mit.edu	37	16	21145587	21145587	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr16:21145587A>G	ENST00000261383.3	-	7	1074	c.1075T>C	c.(1075-1077)Ttt>Ctt	p.F359L	DNAH3_ENST00000415178.1_Missense_Mutation_p.F359L	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	359	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TACTCTGCAAACCACAGTTCT	0.527																																						uc010vbe.1																			0				ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(1075-1077)TTT>CTT		dynein, axonemal, heavy chain 3							96.0	89.0	92.0					16																	21145587		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21145587A>G	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.1075T>C	16.37:g.21145587A>G	ENSP00000261383:p.Phe359Leu					DNAH3_uc002die.2_Missense_Mutation_p.F330L	p.F359L	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	7	1075	-			359			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.1075T>C	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	A	10.10	1.257620	0.22965	.	.	ENSG00000158486	ENST00000261383;ENST00000415178;ENST00000396036	T;T	0.21543	2.0;2.16	5.96	5.96	0.96718	.	0.261961	0.33772	N	0.004576	T	0.19046	0.0457	L	0.49126	1.545	0.31586	N	0.654505	B;B	0.22346	0.0;0.068	B;B	0.18561	0.001;0.022	T	0.14337	-1.0476	10	0.20046	T	0.44	.	10.6413	0.45594	0.8568:0.0:0.0:0.1432	.	359;330	Q8TD57;Q8TD57-2	DYH3_HUMAN;.	L	359;359;330	ENSP00000261383:F359L;ENSP00000394245:F359L	ENSP00000261383:F359L	F	-	1	0	DNAH3	21053088	1.000000	0.71417	0.997000	0.53966	0.674000	0.39518	3.093000	0.50217	2.285000	0.76669	0.533000	0.62120	TTT		0.527	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539	
SPAG5	10615	broad.mit.edu	37	17	26911445	26911445	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr17:26911445G>C	ENST00000321765.5	-	12	2547	c.2215C>G	c.(2215-2217)Cta>Gta	p.L739V		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	739	Gln-rich.|Interaction with KNSTRN.				chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TGACTCTGTAGCTCTTTTAGC	0.512																																						uc002hbq.2																			0				central_nervous_system(1)	1						c.(2215-2217)CTA>GTA		sperm associated antigen 5							197.0	183.0	188.0					17																	26911445		2203	4300	6503	SO:0001583	missense	10615				cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding	g.chr17:26911445G>C	AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"""mitotic spindle coiled-coil related protein"", ""astrin"", ""mitotic spindle associated protein p126"""	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.2215C>G	17.37:g.26911445G>C	ENSP00000323300:p.Leu739Val					SGK494_uc010waq.1_Intron	p.L739V	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN			12	2307	-	Lung NSC(42;0.00431)		739			Gln-rich.		O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	ENST00000321765.5	37	c.2215C>G	CCDS32594.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.011321	0.75046	.	.	ENSG00000076382	ENST00000321765;ENST00000536674	T	0.21191	2.02	6.02	4.02	0.46733	.	0.137552	0.33346	N	0.005003	T	0.11922	0.0290	N	0.24115	0.695	0.24229	N	0.995401	P	0.35628	0.513	B	0.29524	0.103	T	0.15263	-1.0443	10	0.42905	T	0.14	-2.2004	8.521	0.33275	0.0813:0.1533:0.7654:0.0	.	739	Q96R06	SPAG5_HUMAN	V	739;236	ENSP00000444223:L236V	ENSP00000323300:L739V	L	-	1	2	SPAG5	23935572	0.975000	0.34042	0.999000	0.59377	0.995000	0.86356	1.316000	0.33620	0.864000	0.35578	0.650000	0.86243	CTA		0.512	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461	
HNF1B	6928	broad.mit.edu	37	17	36065013	36065013	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr17:36065013G>A	ENST00000225893.4	-	6	1611	c.1250C>T	c.(1249-1251)aCg>aTg	p.T417M	HNF1B_ENST00000561193.1_Missense_Mutation_p.T391M|HNF1B_ENST00000427275.2_Missense_Mutation_p.T391M|HNF1B_ENST00000560016.1_Missense_Mutation_p.T417M	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	417					anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GTGGATATTCGTCAAGGTGCT	0.478																																					Colon(71;102 1179 9001 27917 43397)	uc002hok.3																			0				ovary(3)	3						c.(1249-1251)ACG>ATG		hepatocyte nuclear factor 1-beta isoform 1							167.0	157.0	161.0					17																	36065013		2203	4300	6503	SO:0001583	missense	6928	Hereditary_Prostate_Cancer			endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:36065013G>A	BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"""Homeoboxes / HNF class"""	11630	protein-coding gene	gene with protein product		189907	"""transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"""	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.1250C>T	17.37:g.36065013G>A	ENSP00000225893:p.Thr417Met					HNF1B_uc010wdi.1_Missense_Mutation_p.T391M	p.T417M	NM_000458	NP_000449	P35680	HNF1B_HUMAN	STAD - Stomach adenocarcinoma(1;0.0142)		6	1471	-		Breast(25;0.00765)|Ovarian(249;0.15)	417					B4DKM3|E0YMJ9	Missense_Mutation	SNP	ENST00000225893.4	37	c.1250C>T	CCDS11324.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.329005	0.81690	.	.	ENSG00000108753	ENST00000225893;ENST00000427275;ENST00000539087	D;D	0.98807	-5.15;-5.15	5.6	4.6	0.57074	Hepatocyte nuclear factor 1, beta isoform, C-terminal (1);	0.098510	0.64402	D	0.000001	D	0.99026	0.9667	M	0.80746	2.51	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99624	1.0984	10	0.87932	D	0	-28.7033	14.5755	0.68243	0.0:0.0:0.8528:0.1472	.	391;417	E0YMJ6;P35680	.;HNF1B_HUMAN	M	417;391;305	ENSP00000225893:T417M;ENSP00000412212:T391M	ENSP00000225893:T417M	T	-	2	0	HNF1B	33139126	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	1.296000	0.44742	0.655000	0.94253	ACG		0.478	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256807.3	NM_000458	
FBXL20	84961	broad.mit.edu	37	17	37431297	37431297	+	Silent	SNP	G	G	T			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr17:37431297G>T	ENST00000264658.6	-	10	1013	c.753C>A	c.(751-753)tcC>tcA	p.S251S	FBXL20_ENST00000577399.1_Silent_p.S253S|FBXL20_ENST00000394294.3_Silent_p.S219S|FBXL20_ENST00000583610.1_Silent_p.S251S	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	251					behavioral fear response (GO:0001662)	cytoplasm (GO:0005737)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			AGGCACAAAGGGATTGTAACT	0.403																																						uc010wed.1																			0				ovary(1)	1						c.(751-753)TCC>TCA		F-box and leucine-rich repeat protein 20							127.0	116.0	120.0					17																	37431297		2203	4300	6503	SO:0001819	synonymous_variant	84961					cytoplasm		g.chr17:37431297G>T	BC007557	CCDS32640.1, CCDS54116.1	17q21.2	2011-06-09				ENSG00000108306		"""F-boxes / Leucine-rich repeats"""	24679	protein-coding gene	gene with protein product		609086				12477932	Standard	NM_032875		Approved	MGC15482, Fbl2, Fbl20	uc002hrt.3	Q96IG2		ENST00000264658.6:c.753C>A	17.37:g.37431297G>T						FBXL20_uc002hrt.2_Silent_p.S251S|FBXL20_uc010cvu.2_Silent_p.S219S	p.S251S	NM_032875	NP_116264	Q96IG2	FXL20_HUMAN	LUAD - Lung adenocarcinoma(14;0.146)		10	974	-			251			LRR 7.		A8K729|Q38J52	Silent	SNP	ENST00000264658.6	37	c.753C>A	CCDS32640.1																																																																																				0.403	FBXL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444315.2	NM_032875	
POTEC	388468	broad.mit.edu	37	18	14542851	14542851	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr18:14542851C>T	ENST00000358970.5	-	1	294	c.295G>A	c.(295-297)Ggc>Agc	p.G99S	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	99										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CACCACTTGCCCATCTTGCTC	0.622																																						uc010dln.2																			0				skin(3)	3						c.(295-297)GGC>AGC		ANKRD26-like family B, member 2							39.0	45.0	43.0					18																	14542851		692	1591	2283	SO:0001583	missense	388468							g.chr18:14542851C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.295G>A	18.37:g.14542851C>T	ENSP00000351856:p.Gly99Ser					POTEC_uc010xaj.1_RNA	p.G99S	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN			1	749	-			99						Missense_Mutation	SNP	ENST00000358970.5	37	c.295G>A	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	C	8.612	0.889322	0.17540	.	.	ENSG00000183206	ENST00000358970;ENST00000389891	T	0.36157	1.27	0.399	0.399	0.16325	.	.	.	.	.	T	0.26919	0.0659	L	0.39898	1.24	0.09310	N	1	B	0.16166	0.016	B	0.12837	0.008	T	0.28235	-1.0050	8	0.62326	D	0.03	.	.	.	.	.	99	B2RU33	POTEC_HUMAN	S	99	ENSP00000351856:G99S	ENSP00000351856:G99S	G	-	1	0	POTEC	14532851	0.000000	0.05858	0.010000	0.14722	0.029000	0.11900	-0.174000	0.09839	0.448000	0.26722	0.175000	0.17021	GGC		0.622	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269	
KCNG2	26251	broad.mit.edu	37	18	77659449	77659449	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr18:77659449G>A	ENST00000316249.3	+	2	1034	c.1034G>A	c.(1033-1035)cGc>cAc	p.R345H	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	345					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CTGGCCGAGCGCGAGCTGGGC	0.716																																						uc010xfl.1																			0					0						c.(1033-1035)CGC>CAC		potassium voltage-gated channel, subfamily G,							12.0	13.0	13.0					18																	77659449		2183	4267	6450	SO:0001583	missense	26251				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr18:77659449G>A	AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.1034G>A	18.37:g.77659449G>A	ENSP00000315654:p.Arg345His						p.R345H	NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)	2	1034	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	345						Missense_Mutation	SNP	ENST00000316249.3	37	c.1034G>A	CCDS12019.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.091040	0.36855	.	.	ENSG00000178342	ENST00000316249	D	0.97665	-4.48	3.35	2.47	0.30058	Ion transport (1);	0.119987	0.53938	U	0.000042	D	0.93651	0.7972	N	0.12746	0.255	0.26813	N	0.968951	D	0.59357	0.985	P	0.53760	0.734	D	0.88412	0.3022	10	0.72032	D	0.01	.	7.2274	0.26022	0.2079:0.0:0.792:0.0	.	345	Q9UJ96	KCNG2_HUMAN	H	345	ENSP00000315654:R345H	ENSP00000315654:R345H	R	+	2	0	KCNG2	75760437	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	6.676000	0.74498	0.614000	0.30107	0.411000	0.27672	CGC		0.716	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	NM_012283	
NMRK2	27231	broad.mit.edu	37	19	3942189	3942189	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr19:3942189G>A	ENST00000168977.2	+	8	901	c.611G>A	c.(610-612)cGc>cAc	p.R204H	NMRK2_ENST00000593949.1_Missense_Mutation_p.R209H|NMRK2_ENST00000599576.1_3'UTR	NM_170678.2	NP_733778.1	Q9NPI5	NRK2_HUMAN	nicotinamide riboside kinase 2	204					NAD biosynthetic process (GO:0009435)|negative regulation of myoblast differentiation (GO:0045662)	intracellular (GO:0005622)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|ribosylnicotinamide kinase activity (GO:0050262)										TCCCCGGCTCGCCCAGCCAGG	0.647																																						uc002lyz.3																			0				skin(2)	2						c.(610-612)CGC>CAC		integrin beta 1 binding protein 3							26.0	26.0	26.0					19																	3942189		2202	4299	6501	SO:0001583	missense	27231				pyridine nucleotide biosynthetic process		ATP binding|metal ion binding|protein binding|ribosylnicotinamide kinase activity	g.chr19:3942189G>A	AF190819	CCDS12115.1, CCDS74259.1	19p13.3	2013-10-28	2012-05-31	2012-05-31	ENSG00000077009	ENSG00000077009			17871	protein-coding gene	gene with protein product	"""muscle-specific beta 1 integrin binding protein"", ""nicotinamide riboside kinase 2"""	608705	"""integrin beta 1 binding protein 3"""	ITGB1BP3		10613898, 15137942	Standard	NM_170678		Approved	MIBP, NRK2	uc002lyz.4	Q9NPI5	OTTHUMG00000181758	ENST00000168977.2:c.611G>A	19.37:g.3942189G>A	ENSP00000168977:p.Arg204His					ITGB1BP3_uc010xia.1_Missense_Mutation_p.R209H	p.R204H	NM_170678	NP_733778	Q9NPI5	NRK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00463)|STAD - Stomach adenocarcinoma(1328;0.18)	8	901	+		Hepatocellular(1079;0.137)	204					B7ZKR3|Q52M81|Q9NZK3	Missense_Mutation	SNP	ENST00000168977.2	37	c.611G>A	CCDS12115.1	.	.	.	.	.	.	.	.	.	.	G	6.395	0.441046	0.12164	.	.	ENSG00000077009	ENST00000168977;ENST00000395034	T	0.46451	0.87	1.08	-0.00705	0.14011	.	.	.	.	.	T	0.19167	0.0460	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.16988	-1.0384	9	0.51188	T	0.08	.	3.1538	0.06497	0.3154:0.0:0.6846:0.0	.	209;204	B7ZKR3;Q9NPI5	.;NRK2_HUMAN	H	204;160	ENSP00000168977:R204H	ENSP00000168977:R204H	R	+	2	0	ITGB1BP3	3893189	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.024000	0.12435	0.046000	0.15833	0.485000	0.47835	CGC		0.647	NMRK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457492.1	NM_014446, NM_170678	
CCDC105	126402	broad.mit.edu	37	19	15132177	15132177	+	Missense_Mutation	SNP	C	C	T	rs375778626		TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr19:15132177C>T	ENST00000292574.3	+	4	969	c.887C>T	c.(886-888)gCg>gTg	p.A296V		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	296						extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						TGCGCCTTGGCGCTAAACGAA	0.597																																						uc002nae.2																			0				ovary(1)	1						c.(886-888)GCG>GTG		coiled-coil domain containing 105							58.0	44.0	49.0					19																	15132177		2203	4300	6503	SO:0001583	missense	126402				microtubule cytoskeleton organization	microtubule		g.chr19:15132177C>T	AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.887C>T	19.37:g.15132177C>T	ENSP00000292574:p.Ala296Val						p.A296V	NM_173482	NP_775753	Q8IYK2	CC105_HUMAN			4	986	+			296					Q8N7T5|Q8NDL5	Missense_Mutation	SNP	ENST00000292574.3	37	c.887C>T	CCDS12322.1	.	.	.	.	.	.	.	.	.	.	c	12.30	1.897302	0.33535	.	.	ENSG00000160994	ENST00000292574	T	0.02395	4.31	3.71	3.71	0.42584	.	0.097833	0.38605	N	0.001622	T	0.11750	0.0286	M	0.69823	2.125	0.09310	N	0.999997	D	0.89917	1.0	D	0.87578	0.998	T	0.02546	-1.1143	10	0.37606	T	0.19	-19.9905	11.2687	0.49124	0.0:1.0:0.0:0.0	.	296	Q8IYK2	CC105_HUMAN	V	296	ENSP00000292574:A296V	ENSP00000292574:A296V	A	+	2	0	CCDC105	14993177	0.014000	0.17966	0.128000	0.21923	0.037000	0.13140	0.592000	0.23984	2.091000	0.63221	0.639000	0.83563	GCG		0.597	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466293.1	NM_173482	
ZNF208	7757	broad.mit.edu	37	19	22155492	22155492	+	Missense_Mutation	SNP	A	A	C			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr19:22155492A>C	ENST00000397126.4	-	4	2492	c.2344T>G	c.(2344-2346)Tgt>Ggt	p.C782G	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	782					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GCTTTGCCACATTCTTCACAT	0.358																																						uc002nqp.2																			0				ovary(5)|skin(2)	7						c.(2044-2046)TGT>GGT		zinc finger protein 208							43.0	49.0	47.0					19																	22155492		2088	4234	6322	SO:0001583	missense	7757							g.chr19:22155492A>C	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2344T>G	19.37:g.22155492A>C	ENSP00000380315:p.Cys782Gly					ZNF208_uc002nqo.1_Intron	p.C682G	NM_007153	NP_009084					5	2193	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.2044T>G	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	A	10.33	1.321198	0.23994	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	D	0.85861	-2.04	2.28	2.28	0.28536	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.90885	0.7136	.	.	.	0.36991	D	0.894764	D	0.76494	0.999	D	0.91635	0.999	D	0.91291	0.5059	8	0.87932	D	0	.	8.9508	0.35788	1.0:0.0:0.0:0.0	.	682	O43345	ZN208_HUMAN	G	782;682	ENSP00000380315:C782G	ENSP00000380315:C782G	C	-	1	0	ZNF208	21947332	1.000000	0.71417	0.527000	0.27925	0.230000	0.25150	6.399000	0.73248	0.705000	0.31890	0.232000	0.17820	TGT		0.358	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153	
BCL11A	53335	broad.mit.edu	37	2	60679781	60679781	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr2:60679781G>A	ENST00000356842.4	-	5	2479	c.2251C>T	c.(2251-2253)Cgg>Tgg	p.R751W	BCL11A_ENST00000359629.5_Silent_p.F217F|BCL11A_ENST00000538214.1_Silent_p.F767F|BCL11A_ENST00000537768.1_Missense_Mutation_p.R420W	NM_018014.3	NP_060484.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	0					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GTACTACGCCGAATGGGGGTG	0.498			T	IGH@	B-CLL																																	uc002sab.2				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13						c.(2251-2253)CGG>TGG		B-cell CLL/lymphoma 11A isoform 2							74.0	81.0	79.0					2																	60679781		2203	4300	6503	SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60679781G>A	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000356842.4:c.2251C>T	2.37:g.60679781G>A	ENSP00000349300:p.Arg751Trp					BCL11A_uc002sac.2_Silent_p.F217F|BCL11A_uc010ypi.1_Missense_Mutation_p.R420W|BCL11A_uc010ypj.1_Silent_p.F767F	p.R751W	NM_018014	NP_060484	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		5	2479	-			Error:Variant_position_missing_in_Q9H165_after_alignment					D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000356842.4	37	c.2251C>T	CCDS1861.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.285940	0.40394	.	.	ENSG00000119866	ENST00000356842;ENST00000378117;ENST00000537768	T;T	0.08896	3.04;3.18	5.92	5.92	0.95590	.	.	.	.	.	T	0.08044	0.0201	.	.	.	0.30820	N	0.737934	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.02437	-1.1159	8	0.87932	D	0	.	9.2097	0.37311	0.1204:0.0:0.8796:0.0	.	420;751	B4DT16;D9YZV9	.;.	W	751;776;420	ENSP00000349300:R751W;ENSP00000443712:R420W	ENSP00000349300:R751W	R	-	1	2	BCL11A	60533285	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.271000	0.58902	2.810000	0.96702	0.650000	0.86243	CGG		0.498	BCL11A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251578.3	NM_022893	
ALMS1	7840	broad.mit.edu	37	2	73717955	73717955	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr2:73717955G>C	ENST00000264448.6	+	10	8977	c.8866G>C	c.(8866-8868)Gct>Cct	p.A2956P	ALMS1_ENST00000409009.1_Missense_Mutation_p.A2914P|AC096546.1_ENST00000408160.1_RNA	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2956					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GGATTCTATAGCTTCAGACCT	0.438																																						uc002sje.1																			0				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(8872-8874)GCT>CCT		Alstrom syndrome 1							153.0	143.0	146.0					2																	73717955		1882	4111	5993	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73717955G>C	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.8866G>C	2.37:g.73717955G>C	ENSP00000264448:p.Ala2956Pro					ALMS1_uc002sjf.1_Missense_Mutation_p.A2914P|ALMS1_uc002sjg.2_Missense_Mutation_p.A2344P|ALMS1_uc002sjh.1_Missense_Mutation_p.A2344P	p.A2958P	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			12	8983	+			2956					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.8872G>C	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	g	9.891	1.204128	0.22205	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.08546	3.08;3.08	4.78	1.99	0.26369	.	0.536306	0.17260	N	0.180817	T	0.17023	0.0409	L	0.46157	1.445	0.09310	N	0.999999	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.72075	0.976;0.976;0.976	T	0.04509	-1.0946	10	0.72032	D	0.01	.	5.5969	0.17331	0.0907:0.0:0.5562:0.3531	.	2956;2914;2956	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	P	2914;2956	ENSP00000386627:A2914P;ENSP00000264448:A2956P	ENSP00000264448:A2956P	A	+	1	0	ALMS1	73571463	0.519000	0.26242	0.055000	0.19348	0.111000	0.19643	0.037000	0.13840	0.472000	0.27344	-0.127000	0.14921	GCT		0.438	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120	
ALMS1	7840	broad.mit.edu	37	2	73717985	73717985	+	Missense_Mutation	SNP	G	G	C	rs561233377		TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr2:73717985G>C	ENST00000264448.6	+	10	9007	c.8896G>C	c.(8896-8898)Gaa>Caa	p.E2966Q	ALMS1_ENST00000409009.1_Missense_Mutation_p.E2924Q|AC096546.1_ENST00000408160.1_RNA	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2966					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CATTTCTCTTGAACAATGCCA	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		22171	0.0		0.0	False		,,,				2504	0.001					uc002sje.1																			0				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(8902-8904)GAA>CAA		Alstrom syndrome 1							137.0	129.0	132.0					2																	73717985		1881	4113	5994	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73717985G>C	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.8896G>C	2.37:g.73717985G>C	ENSP00000264448:p.Glu2966Gln					ALMS1_uc002sjf.1_Missense_Mutation_p.E2924Q|ALMS1_uc002sjg.2_Missense_Mutation_p.E2354Q|ALMS1_uc002sjh.1_Missense_Mutation_p.E2354Q	p.E2968Q	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			12	9013	+			2966					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.8902G>C	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	g	9.353	1.066086	0.20067	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.08458	3.09;3.09	4.78	3.0	0.34707	.	0.447160	0.20381	N	0.093441	T	0.13114	0.0318	L	0.43152	1.355	0.58432	D	0.999997	D;D;D	0.57571	0.98;0.98;0.98	P;P;P	0.54856	0.762;0.762;0.762	T	0.02294	-1.1181	10	0.62326	D	0.03	.	7.1221	0.25450	0.1954:0.0:0.8046:0.0	.	2966;2924;2966	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	Q	2924;2966	ENSP00000386627:E2924Q;ENSP00000264448:E2966Q	ENSP00000264448:E2966Q	E	+	1	0	ALMS1	73571493	1.000000	0.71417	0.671000	0.29857	0.099000	0.18886	1.621000	0.36986	0.949000	0.37715	0.650000	0.86243	GAA		0.428	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120	
TTN	7273	broad.mit.edu	37	2	179623871	179623871	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr2:179623871G>T	ENST00000591111.1	-	44	10367	c.10143C>A	c.(10141-10143)gaC>gaA	p.D3381E	TTN_ENST00000360870.5_Missense_Mutation_p.D3381E|TTN_ENST00000460472.2_Missense_Mutation_p.D3335E|TTN_ENST00000359218.5_Missense_Mutation_p.D3335E|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D3335E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D3381E|TTN_ENST00000342992.6_Missense_Mutation_p.D3381E|TTN-AS1_ENST00000578746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13697	Ig-like 20.				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)			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)			TGATTTTCTTGTCTTTGCTGT	0.368																																						uc010zfg.1																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(10141-10143)GAC>GAA		titin isoform N2-A							125.0	110.0	115.0					2																	179623871		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179623871G>T	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.10143C>A	2.37:g.179623871G>T	ENSP00000465570:p.Asp3381Glu					TTN_uc010zfh.1_Missense_Mutation_p.D3335E|TTN_uc010zfi.1_Missense_Mutation_p.D3335E|TTN_uc010zfj.1_Missense_Mutation_p.D3335E|TTN_uc002umz.1_Missense_Mutation_p.D42E|TTN_uc002unb.2_Missense_Mutation_p.D3381E	p.D3381E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		44	10367	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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	c.10143C>A		.	.	.	.	.	.	.	.	.	.	G	12.40	1.925651	0.34002	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46	5.92	3.18	0.36537	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.49881	0.1583	N	0.25485	0.75	0.22601	N	0.998946	B;B;B;B;B	0.31193	0.003;0.003;0.003;0.003;0.312	B;B;B;B;B	0.25884	0.009;0.009;0.009;0.011;0.064	T	0.45249	-0.9274	9	0.87932	D	0	.	7.6281	0.28224	0.1988:0.1196:0.6815:0.0	.	3335;3335;3335;3381;3381	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	E	3381;3335;3335;3335;3335;3381	ENSP00000343764:D3381E;ENSP00000434586:D3335E;ENSP00000340554:D3335E;ENSP00000352154:D3335E;ENSP00000354117:D3381E	ENSP00000340554:D3335E	D	-	3	2	TTN	179332116	0.968000	0.33430	1.000000	0.80357	0.992000	0.81027	-0.019000	0.12546	0.856000	0.35383	-0.136000	0.14681	GAC		0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
AOX1	316	broad.mit.edu	37	2	201527627	201527627	+	Missense_Mutation	SNP	G	G	A	rs142723794	byFrequency	TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr2:201527627G>A	ENST00000374700.2	+	31	3719	c.3478G>A	c.(3478-3480)Gaa>Aaa	p.E1160K	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	1160					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CCAGCCCTTCGAATACTTTGT	0.483																																						uc002uvx.2																			0				ovary(4)|pancreas(1)|skin(1)	6						c.(3478-3480)GAA>AAA		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	G	LYS/GLU	0,4406		0,0,2203	170.0	160.0	163.0		3478	2.8	0.9	2	dbSNP_134	163	10,8590	7.1+/-27.0	0,10,4290	yes	missense	AOX1	NM_001159.3	56	0,10,6493	AA,AG,GG		0.1163,0.0,0.0769	benign	1160/1339	201527627	10,12996	2203	4300	6503	SO:0001583	missense	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201527627G>A	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.3478G>A	2.37:g.201527627G>A	ENSP00000363832:p.Glu1160Lys					AOX1_uc010zhf.1_Missense_Mutation_p.E716K|AOX1_uc010fsu.2_Missense_Mutation_p.E526K	p.E1160K	NM_001159	NP_001150	Q06278	ADO_HUMAN			31	3579	+			1160					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	c.3478G>A	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	G	8.730	0.916405	0.17907	0.0	0.001163	ENSG00000138356	ENST00000374700;ENST00000260930	T;T	0.37915	1.17;1.17	5.91	2.81	0.32909	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.224065	0.46758	N	0.000273	T	0.16471	0.0396	N	0.10837	0.055	0.09310	N	1	B	0.10296	0.003	B	0.13407	0.009	T	0.18618	-1.0331	10	0.16896	T	0.51	-25.9697	7.6204	0.28181	0.1621:0.3185:0.5194:0.0	.	1160	Q06278	ADO_HUMAN	K	1160;46	ENSP00000363832:E1160K;ENSP00000260930:E46K	ENSP00000260930:E46K	E	+	1	0	AOX1	201235872	0.000000	0.05858	0.918000	0.36340	0.954000	0.61252	-0.087000	0.11215	1.447000	0.47661	0.555000	0.69702	GAA		0.483	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159	
CREB1	1385	broad.mit.edu	37	2	208434967	208434971	+	Frame_Shift_Del	DEL	GAAGA	GAAGA	-			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr2:208434967_208434971delGAAGA	ENST00000432329.2	+	6	720_724	c.469_473delGAAGA	c.(469-474)gaagagfs	p.EE157fs	CREB1_ENST00000353267.3_Frame_Shift_Del_p.EE143fs|CREB1_ENST00000374397.4_Frame_Shift_Del_p.EE157fs|CREB1_ENST00000539789.1_Frame_Shift_Del_p.EE117fs|CREB1_ENST00000536726.1_Frame_Shift_Del_p.EE143fs|CREB1_ENST00000430624.1_Frame_Shift_Del_p.EE143fs	NM_134442.3	NP_604391.1	P16220	CREB1_HUMAN	cAMP responsive element binding protein 1	157	KID. {ECO:0000255|PROSITE- ProRule:PRU00312}.				activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|cellular response to zinc ion (GO:0071294)|circadian rhythm (GO:0007623)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|lactation (GO:0007595)|lung saccule development (GO:0060430)|memory (GO:0007613)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription by competitive promoter binding (GO:0010944)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|pituitary gland development (GO:0021983)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of cell size (GO:0008361)|response to drug (GO:0042493)|response to glucagon (GO:0033762)|response to organic substance (GO:0010033)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|Type I pneumocyte differentiation (GO:0060509)|viral process (GO:0016032)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	cAMP response element binding (GO:0035497)|enzyme binding (GO:0019899)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)		EWSR1/CREB1(44)	NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|upper_aerodigestive_tract(1)	5				LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	Adenosine monophosphate(DB00131)|Naloxone(DB01183)	AGAGAAGTCTGAAGAGGAGACTTCA	0.371			T	EWSR1	"""clear cell sarcoma, angiomatoid fibrous histiocytoma"""																																	uc002vcc.2				Dom	yes		2	2q34	1385	T	cAMP responsive element binding protein 1			M	EWSR1		clear cell sarcoma|angiomatoid fibrous histiocytoma	EWSR1/CREB1(42)	0				soft_tissue(42)|breast(1)|central_nervous_system(1)	44						c.(469-474)GAAGAGfs		cAMP responsive element binding protein 1	Adenosine monophosphate(DB00131)|Bromocriptine(DB01200)|Naloxone(DB01183)																																			SO:0001589	frameshift_variant	1385				activation of phospholipase C activity|axon guidance|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein dimerization activity|transcription cofactor activity	g.chr2:208434967_208434971delGAAGA	M27691	CCDS2374.1, CCDS2375.1	2q34	2013-01-10			ENSG00000118260	ENSG00000118260		"""basic leucine zipper proteins"""	2345	protein-coding gene	gene with protein product		123810					Standard	NM_134442		Approved		uc002vcc.3	P16220	OTTHUMG00000132936	ENST00000432329.2:c.469_473delGAAGA	2.37:g.208434967_208434971delGAAGA	ENSP00000387699:p.Glu157fs					CREB1_uc010ziz.1_Frame_Shift_Del_p.E141fs|CREB1_uc002vcd.2_Frame_Shift_Del_p.E143fs|CREB1_uc010zja.1_RNA	p.E157fs	NM_134442	NP_604391	P16220	CREB1_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	6	720_724	+			157_158			KID.		P21934|Q6V963|Q9UMA7	Frame_Shift_Del	DEL	ENST00000432329.2	37	c.469_473delGAAGA	CCDS2375.1																																																																																				0.371	CREB1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256467.3	NM_134442	
XRCC5	7520	broad.mit.edu	37	2	216995664	216995664	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr2:216995664C>T	ENST00000392133.3	+	11	1465	c.1004C>T	c.(1003-1005)tCg>tTg	p.S335L	XRCC5_ENST00000471649.1_3'UTR|XRCC5_ENST00000392132.2_Missense_Mutation_p.S335L			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	335	Ku.				brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to fatty acid (GO:0071398)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|hematopoietic stem cell differentiation (GO:0060218)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of type I interferon production (GO:0032481)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		AAATATAAATCGGAGGGGAAG	0.368								Non-homologous end-joining																														uc002vfy.2																			0				lung(1)|kidney(1)	2						c.(1003-1005)TCG>TTG	Direct_reversal_of_damage|NHEJ	ATP-dependent DNA helicase II							151.0	154.0	153.0					2																	216995664		2203	4300	6503	SO:0001583	missense	7520				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding	g.chr2:216995664C>T	AF039597	CCDS2402.1	2q35	2008-07-31	2008-07-31		ENSG00000079246	ENSG00000079246			12833	protein-coding gene	gene with protein product	"""Ku autoantigen, 80kDa"""	194364	"""X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD)"""			9636207, 9214634	Standard	NM_021141		Approved	KU80, KARP-1, Ku86, KUB2	uc002vfy.3	P13010	OTTHUMG00000133059	ENST00000392133.3:c.1004C>T	2.37:g.216995664C>T	ENSP00000375978:p.Ser335Leu					XRCC5_uc002vfz.2_Missense_Mutation_p.S221L	p.S335L	NM_021141	NP_066964	P13010	XRCC5_HUMAN		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)	9	1144	+		Renal(323;0.0328)	335			Ku.		A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	Missense_Mutation	SNP	ENST00000392133.3	37	c.1004C>T	CCDS2402.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.385970	0.42308	.	.	ENSG00000079246	ENST00000392133;ENST00000392132	T;T	0.32988	1.43;1.43	5.55	3.78	0.43462	Spen Paralogue and Orthologue SPOC, C-terminal-like (2);DNA helicase, ATP-dependent, Ku type (2);	0.269304	0.37178	N	0.002201	T	0.25791	0.0628	L	0.49350	1.555	0.35790	D	0.822307	B	0.24258	0.1	B	0.19391	0.025	T	0.20009	-1.0288	10	0.17832	T	0.49	.	11.4777	0.50308	0.0:0.8559:0.0:0.1441	.	335	P13010	XRCC5_HUMAN	L	335	ENSP00000375978:S335L;ENSP00000375977:S335L	ENSP00000375977:S335L	S	+	2	0	XRCC5	216703909	0.972000	0.33761	0.936000	0.37596	0.991000	0.79684	2.341000	0.43983	0.913000	0.36797	0.591000	0.81541	TCG		0.368	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256675.3	NM_021141	
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	byFrequency	TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	41								p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358																																						uc010ztl.1																			2	Substitution - Missense(2)		urinary_tract(2)		0						c.(31-33)GCC>ACC		Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA.																																				SO:0001583	missense	284802							g.chr20:29625877G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.121G>A	20.37:g.29625877G>A	ENSP00000278882:p.Ala41Thr					FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Intron	p.A11T							2	63	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.31G>A		.	.	.	.	.	.	.	.	.	.	g	8.740	0.918766	0.17982	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62498	0.02	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	.	.	.	0.52099	D	0.999942	B	0.24186	0.099	B	0.27715	0.082	T	0.43956	-0.9359	9	0.33940	T	0.23	.	9.3557	0.38164	0.0:0.0:1.0:0.0	rs7266938;rs7266938	46	F5H5R5	.	T	41;46;41	ENSP00000408863:A46T	ENSP00000278882:A41T	A	+	1	0	FRG1B	28239538	1.000000	0.71417	0.993000	0.49108	0.033000	0.12548	5.232000	0.65332	1.250000	0.43966	0.184000	0.17185	GCC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	
LIPI	149998	broad.mit.edu	37	21	15561699	15561699	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr21:15561699T>C	ENST00000536861.1	-	2	87	c.88A>G	c.(88-90)Aag>Gag	p.K30E	LIPI_ENST00000344577.2_Missense_Mutation_p.K51E			Q6XZB0	LIPI_HUMAN	lipase, member I	30					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		AAGGAATCCTTTACACTTAGC	0.358																																						uc002yjm.2																			0				ovary(2)	2						c.(151-153)AAG>GAG		lipase, member I							84.0	88.0	87.0					21																	15561699		2203	4299	6502	SO:0001583	missense	149998				lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	g.chr21:15561699T>C	BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"""membrane-associated phospholipase A1 beta"", ""cancer/testis antigen 17"""	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.88A>G	21.37:g.15561699T>C	ENSP00000440381:p.Lys30Glu					LIPI_uc010gkw.1_5'UTR	p.K51E	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)	2	161	-			30					G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Missense_Mutation	SNP	ENST00000536861.1	37	c.151A>G		.	.	.	.	.	.	.	.	.	.	T	13.52	2.263067	0.39995	.	.	ENSG00000188992	ENST00000344577;ENST00000536861	D;D	0.90620	-2.7;-2.7	5.3	2.83	0.33086	.	2.277640	0.01626	N	0.023285	D	0.83797	0.5332	L	0.43152	1.355	0.09310	N	1	P	0.35944	0.529	B	0.36922	0.236	T	0.73235	-0.4047	10	0.02654	T	1	.	0.4267	0.00464	0.2911:0.1407:0.1616:0.4066	.	51	Q6XZB0-2	.	E	51;30	ENSP00000343331:K51E;ENSP00000440381:K30E	ENSP00000343331:K51E	K	-	1	0	LIPI	14483570	0.010000	0.17322	0.987000	0.45799	0.692000	0.40212	-0.001000	0.12947	2.139000	0.66308	0.533000	0.62120	AAG		0.358	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_198996	
SRGAP3	9901	broad.mit.edu	37	3	9055068	9055068	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr3:9055068C>A	ENST00000383836.3	-	17	2498	c.2071G>T	c.(2071-2073)Gaa>Taa	p.E691*	SRGAP3_ENST00000433332.3_5'Flank|SRGAP3-AS1_ENST00000414633.1_RNA|SRGAP3_ENST00000360413.3_Nonsense_Mutation_p.E667*	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	691					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		AAGATGGCTTCATGATGGATG	0.512			T	RAF1	pilocytic astrocytoma																																	uc003brf.1				Dom	yes		3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3			M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(4)	0				central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1)	9						c.(2071-2073)GAA>TAA		SLIT-ROBO Rho GTPase activating protein 3							109.0	88.0	95.0					3																	9055068		2203	4300	6503	SO:0001587	stop_gained	9901				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr3:9055068C>A	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.2071G>T	3.37:g.9055068C>A	ENSP00000373347:p.Glu691*					SRGAP3_uc003brg.1_Nonsense_Mutation_p.E667*	p.E691*	NM_014850	NP_055665	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	17	2747	-			691					Q8IX13|Q8IZV8	Nonsense_Mutation	SNP	ENST00000383836.3	37	c.2071G>T	CCDS2572.1	.	.	.	.	.	.	.	.	.	.	C	42	9.360245	0.99148	.	.	ENSG00000196220	ENST00000383836;ENST00000360413	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	19.4422	0.94825	0.0:1.0:0.0:0.0	.	.	.	.	X	691;667	.	ENSP00000353587:E667X	E	-	1	0	SRGAP3	9030068	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.770000	0.85390	2.688000	0.91661	0.655000	0.94253	GAA		0.512	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3		
FANCD2	2177	broad.mit.edu	37	3	10107617	10107617	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr3:10107617C>T	ENST00000419585.1	+	25	2500	c.2339C>T	c.(2338-2340)tCa>tTa	p.S780L	FANCD2_ENST00000383806.1_Missense_Mutation_p.S780L|FANCD2_ENST00000383807.1_Missense_Mutation_p.S780L|FANCD2_ENST00000287647.3_Missense_Mutation_p.S780L			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	780					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AAAGAGCGTTCATTCATGTGT	0.403			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc003buw.2			yes	Rec		Fanconi anaemia D2	3	3p26	2177	D|Mis|N|F	"""Fanconi anemia, complementation group D2"""			L		AML|leukemia			0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(2338-2340)TCA>TTA	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia complementation group D2 isoform							155.0	127.0	136.0					3																	10107617		2203	4300	6503	SO:0001583	missense	2177	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding	g.chr3:10107617C>T	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.2339C>T	3.37:g.10107617C>T	ENSP00000398754:p.Ser780Leu					FANCD2_uc003bux.1_Missense_Mutation_p.S780L|FANCD2_uc003buy.1_Missense_Mutation_p.S780L|FANCD2_uc010hcw.1_RNA	p.S780L	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	25	2417	+			780					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	c.2339C>T	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.892100	0.52014	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.78	4.9	0.64082	.	0.226739	0.43416	D	0.000561	T	0.55737	0.1939	M	0.63428	1.95	0.18873	N	0.999989	D;D	0.57899	0.981;0.981	P;P	0.57324	0.818;0.818	T	0.51332	-0.8719	10	0.42905	T	0.14	.	8.1299	0.31020	0.1553:0.7631:0.0:0.0816	.	780;780	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	L	780	ENSP00000287647:S780L;ENSP00000373318:S780L;ENSP00000373317:S780L;ENSP00000398754:S780L	ENSP00000287647:S780L	S	+	2	0	FANCD2	10082617	0.983000	0.35010	0.031000	0.17742	0.086000	0.17979	2.948000	0.49066	2.758000	0.94735	0.460000	0.39030	TCA		0.403	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1		
LINC00969	440993	broad.mit.edu	37	3	195400795	195400795	+	lincRNA	SNP	C	C	T	rs7615357	byFrequency	TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr3:195400795C>T	ENST00000445430.1	+	0	1391									long intergenic non-protein coding RNA 969																		GGGGCAAACTCGCTGTTGGAC	0.592																																						uc003fuw.2																			0					0						c.(91-93)CGC>TGC		SubName: Full=cDNA FLJ16373 fis, clone THYMU3000269, highly similar to Succinate dehydrogenase (ubiquinone) flavoprotein subunit, mitochondrial (EC 1.3.5.1);																																						727956							g.chr3:195400795C>T	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400795C>T						SDHAP2_uc011btb.1_Missense_Mutation_p.S178L|SDHAP2_uc011btc.1_RNA|SDHAP2_uc003fuv.2_RNA	p.R31C							9	1285	+									Missense_Mutation	SNP	ENST00000445430.1	37	c.91C>T																																																																																					0.592	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1		
LINC00969	440993	broad.mit.edu	37	3	195400799	195400799	+	lincRNA	SNP	G	G	A	rs7635172		TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr3:195400799G>A	ENST00000445430.1	+	0	1395									long intergenic non-protein coding RNA 969																		CAAACTCGCTGTTGGACCTGG	0.597																																						uc003fuw.2																			0					0						c.(94-96)TGT>TAT		SubName: Full=cDNA FLJ16373 fis, clone THYMU3000269, highly similar to Succinate dehydrogenase (ubiquinone) flavoprotein subunit, mitochondrial (EC 1.3.5.1);																																						727956							g.chr3:195400799G>A	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400799G>A						SDHAP2_uc011btb.1_Silent_p.L179L|SDHAP2_uc011btc.1_RNA|SDHAP2_uc003fuv.2_RNA	p.C32Y							9	1289	+									Missense_Mutation	SNP	ENST00000445430.1	37	c.95G>A																																																																																					0.597	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1		
KIAA1211	57482	broad.mit.edu	37	4	57189557	57189557	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr4:57189557C>T	ENST00000504228.1	+	7	3307	c.3202C>T	c.(3202-3204)Cag>Tag	p.Q1068*	KIAA1211_ENST00000264229.6_Nonsense_Mutation_p.Q1068*|KIAA1211_ENST00000541073.1_Nonsense_Mutation_p.Q1061*			Q6ZU35	K1211_HUMAN	KIAA1211	1068										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GCCGATGCTTCAGAGCAGACA	0.468																																						uc003hbk.2																			0				ovary(1)|skin(1)	2						c.(3202-3204)CAG>TAG		hypothetical protein LOC57482							71.0	72.0	72.0					4																	57189557		1921	4135	6056	SO:0001587	stop_gained	57482							g.chr4:57189557C>T	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.3202C>T	4.37:g.57189557C>T	ENSP00000423366:p.Gln1068*					KIAA1211_uc010iha.2_Nonsense_Mutation_p.Q1061*	p.Q1068*	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN			9	3593	+	Glioma(25;0.08)|all_neural(26;0.101)		1068					Q9NTE2|Q9NTP8|Q9ULK9	Nonsense_Mutation	SNP	ENST00000504228.1	37	c.3202C>T	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	C	39	7.637345	0.98403	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073	.	.	.	5.71	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-42.3771	16.6361	0.85060	0.0:0.87:0.13:0.0	.	.	.	.	X	1068;1068;1061	.	ENSP00000264229:Q1068X	Q	+	1	0	KIAA1211	56884314	1.000000	0.71417	1.000000	0.80357	0.209000	0.24338	5.548000	0.67255	1.371000	0.46172	0.563000	0.77884	CAG		0.468	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722	
ALB	213	broad.mit.edu	37	4	74283255	74283255	+	Missense_Mutation	SNP	G	G	T	rs141626688		TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr4:74283255G>T	ENST00000503124.1	+	9	1054	c.847G>T	c.(847-849)Gtt>Ttt	p.V283F	ALB_ENST00000505649.1_Intron|ALB_ENST00000509063.1_Missense_Mutation_p.V433F|ALB_ENST00000295897.4_Missense_Mutation_p.V433F|ALB_ENST00000415165.2_Missense_Mutation_p.V241F|ALB_ENST00000401494.3_Missense_Mutation_p.V318F			Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CAGGCTATTAGTTCGTTACAC	0.398																																						uc003hgs.3																			0				ovary(3)|skin(3)	6						c.(1297-1299)GTT>TTT		albumin preproprotein	Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)						86.0	88.0	87.0					4																	74283255		2203	4300	6503	SO:0001583	missense	213				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	g.chr4:74283255G>T	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000503124.1:c.847G>T	4.37:g.74283255G>T	ENSP00000421027:p.Val283Phe					ALB_uc003hgw.3_Missense_Mutation_p.V241F|ALB_uc011cbe.1_Missense_Mutation_p.V112F|ALB_uc003hgt.3_Missense_Mutation_p.V433F|ALB_uc010iii.2_Missense_Mutation_p.V318F|ALB_uc003hgu.3_Missense_Mutation_p.V283F|ALB_uc003hgv.3_Missense_Mutation_p.V112F|ALB_uc011cbf.1_Missense_Mutation_p.V323F|ALB_uc010iij.2_Intron|ALB_uc003hgx.3_Missense_Mutation_p.V112F	p.V433F	NM_000477	NP_000468	P02768	ALBU_HUMAN	Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		11	1370	+	Breast(15;0.00102)		433			Albumin 3.		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000503124.1	37	c.1297G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.79|12.79	2.043330|2.043330	0.36085|0.36085	.|.	.|.	ENSG00000163631|ENSG00000163631	ENST00000511370|ENST00000295897;ENST00000415165;ENST00000329326;ENST00000503124;ENST00000509063;ENST00000401494;ENST00000430202	.|T;T;T;T;T	.|0.75589	.|-0.95;-0.95;-0.95;-0.95;-0.95	5.5|5.5	0.636|0.636	0.17729|0.17729	.|Serum albumin-like (1);Serum albumin, N-terminal (3);	.|0.504996	.|0.19415	.|N	.|0.114858	D|D	0.83403|0.83403	0.5247|0.5247	M|M	0.77616|0.77616	2.38|2.38	0.22127|0.22127	N|N	0.999347|0.999347	.|D;P;D;P;P	.|0.89917	.|1.0;0.877;0.997;0.877;0.877	.|D;P;D;P;P	.|0.97110	.|1.0;0.536;0.973;0.832;0.604	T|T	0.74447|0.74447	-0.3662|-0.3662	5|10	.|0.87932	.|D	.|0	-18.3895|-18.3895	9.6895|9.6895	0.40120|0.40120	0.5873:0.0:0.4127:0.0|0.5873:0.0:0.4127:0.0	.|.	.|318;241;283;433;433	.|B7WNR0;C9JKR2;D6RHD5;A6NBZ8;P02768	.|.;.;.;.;ALBU_HUMAN	I|F	277|433;241;220;283;433;318;442	.|ENSP00000295897:V433F;ENSP00000401820:V241F;ENSP00000421027:V283F;ENSP00000422784:V433F;ENSP00000384695:V318F	.|ENSP00000295897:V433F	S|V	+|+	2|1	0|0	ALB|ALB	74502119|74502119	0.008000|0.008000	0.16893|0.16893	0.033000|0.033000	0.17914|0.17914	0.565000|0.565000	0.35776|0.35776	-0.054000|-0.054000	0.11826|0.11826	-0.216000|-0.216000	0.10048|0.10048	0.650000|0.650000	0.86243|0.86243	AGT|GTT		0.398	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365419.1	NM_000477	
ATP10B	23120	broad.mit.edu	37	5	160063304	160063304	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr5:160063304C>T	ENST00000327245.5	-	11	1859	c.1013G>A	c.(1012-1014)tGg>tAg	p.W338*	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	338					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGTCCCATTCCAGATGCTGTG	0.498																																						uc003lym.1																			0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(1012-1014)TGG>TAG		ATPase, class V, type 10B							91.0	89.0	90.0					5																	160063304		1951	4153	6104	SO:0001587	stop_gained	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160063304C>T	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.1013G>A	5.37:g.160063304C>T	ENSP00000313600:p.Trp338*					ATP10B_uc003lyp.2_Nonsense_Mutation_p.W338*|ATP10B_uc011deg.1_Nonsense_Mutation_p.W382*|ATP10B_uc003lyn.2_5'Flank|ATP10B_uc003lyo.2_Nonsense_Mutation_p.W310*	p.W338*	NM_025153	NP_079429	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		11	1860	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	338			Helical; (Potential).		Q9H725	Nonsense_Mutation	SNP	ENST00000327245.5	37	c.1013G>A	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	C	45	12.020944	0.99627	.	.	ENSG00000118322	ENST00000327245	.	.	.	5.18	5.18	0.71444	.	0.139342	0.49916	D	0.000127	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0809	0.89441	0.0:1.0:0.0:0.0	.	.	.	.	X	338	.	.	W	-	2	0	ATP10B	159995882	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	4.727000	0.61993	2.579000	0.87056	0.555000	0.69702	TGG		0.498	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153	
CLIC5	53405	broad.mit.edu	37	6	45882089	45882089	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr6:45882089G>C	ENST00000185206.6	-	5	1093	c.941C>G	c.(940-942)cCt>cGt	p.P314R	CLIC5_ENST00000339561.6_Missense_Mutation_p.P155R|CLIC5_ENST00000486570.1_5'UTR|CLIC5_ENST00000544153.1_Missense_Mutation_p.P155R	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	314	GST C-terminal.				auditory receptor cell stereocilium organization (GO:0060088)|chloride transport (GO:0006821)|diet induced thermogenesis (GO:0002024)|female pregnancy (GO:0007565)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|sensory perception of sound (GO:0007605)|transport (GO:0006810)	actin cytoskeleton (GO:0015629)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|stereocilium (GO:0032420)	voltage-gated chloride channel activity (GO:0005247)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						CTCTGGTAGAGGGGTGTTCAG	0.512																																						uc003oxv.3																			0				ovary(1)|skin(1)	2						c.(940-942)CCT>CGT		chloride intracellular channel 5 isoform a							131.0	130.0	130.0					6																	45882089		2203	4300	6503	SO:0001583	missense	53405				female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity	g.chr6:45882089G>C	AF216941	CCDS4914.1, CCDS47438.1, CCDS59022.1	6p12.3	2014-03-14			ENSG00000112782	ENSG00000112782		"""Ion channels / Chloride channels : Intracellular"""	13517	protein-coding gene	gene with protein product		607293				10793131	Standard	NM_001114086		Approved		uc003oxv.3	Q9NZA1	OTTHUMG00000014775	ENST00000185206.6:c.941C>G	6.37:g.45882089G>C	ENSP00000185206:p.Pro314Arg					CLIC5_uc003oxu.3_Missense_Mutation_p.P155R|CLIC5_uc003oxw.2_RNA|CLIC5_uc003oxx.2_Missense_Mutation_p.P155R	p.P314R	NM_001114086	NP_001107558	Q9NZA1	CLIC5_HUMAN			5	1047	-			314			GST C-terminal.		B3KUF1|Q5T4Z0|Q8NBY3|Q96JT5|Q9BWZ0	Missense_Mutation	SNP	ENST00000185206.6	37	c.941C>G	CCDS47438.1	.	.	.	.	.	.	.	.	.	.	G	31	5.098536	0.94197	.	.	ENSG00000112782	ENST00000185206;ENST00000339561;ENST00000544153	D;D;D	0.93906	-3.31;-3.31;-3.31	5.84	5.84	0.93424	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.094831	0.85682	D	0.000000	D	0.96390	0.8822	M	0.89214	3.015	0.80722	D	1	P;D;D	0.55605	0.922;0.972;0.962	P;P;P	0.55713	0.573;0.632;0.782	D	0.95565	0.8633	10	0.52906	T	0.07	-13.9578	20.5276	0.99231	0.0:0.0:1.0:0.0	.	155;314;155	Q8NBY3;Q9NZA1;Q53G01	.;CLIC5_HUMAN;.	R	314;155;155	ENSP00000185206:P314R;ENSP00000344165:P155R;ENSP00000439195:P155R	ENSP00000185206:P314R	P	-	2	0	CLIC5	45990067	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	CCT		0.512	CLIC5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040761.1		
SNAP91	9892	broad.mit.edu	37	6	84284736	84284736	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr6:84284736G>A	ENST00000439399.2	-	26	2751	c.2435C>T	c.(2434-2436)gCa>gTa	p.A812V	SNAP91_ENST00000520302.1_Missense_Mutation_p.A782V|SNAP91_ENST00000520213.1_Missense_Mutation_p.A505V|SNAP91_ENST00000521485.1_Missense_Mutation_p.A807V|SNAP91_ENST00000519133.1_5'Flank|SNAP91_ENST00000437520.1_Missense_Mutation_p.A505V|SNAP91_ENST00000428679.2_Missense_Mutation_p.A812V|SNAP91_ENST00000369694.2_Missense_Mutation_p.A812V|SNAP91_ENST00000521743.1_Missense_Mutation_p.A812V|SNAP91_ENST00000195649.6_Missense_Mutation_p.A807V	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	812	Pro-rich.				clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TACCAAAGGTGCACTTGGTGG	0.522																																						uc011dze.1																			0				ovary(1)	1						c.(2434-2436)GCA>GTA		synaptosomal-associated protein, 91kDa homolog							46.0	47.0	47.0					6																	84284736		2011	4172	6183	SO:0001583	missense	9892				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	g.chr6:84284736G>A	AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"""synaptosomal-associated protein, 91 kDa (mouse) homolog"", ""synaptosomal-associated protein, 91kDa homolog (mouse)"""			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.2435C>T	6.37:g.84284736G>A	ENSP00000400459:p.Ala812Val					SNAP91_uc011dzd.1_Missense_Mutation_p.A310V|SNAP91_uc003pkb.2_Missense_Mutation_p.A721V|SNAP91_uc003pkc.2_Missense_Mutation_p.A782V|SNAP91_uc003pkd.2_Missense_Mutation_p.A505V|SNAP91_uc003pka.2_Missense_Mutation_p.A810V	p.A812V	NM_014841	NP_055656	O60641	AP180_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0967)	25	2752	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)	812			Pro-rich.		A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	ENST00000439399.2	37	c.2435C>T	CCDS47455.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.147339	0.57151	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000437520;ENST00000520302;ENST00000521743;ENST00000520213;ENST00000523448	T;T;T;T;T;T;T;T;T;T	0.27256	2.24;2.22;2.22;2.24;2.25;2.26;2.25;2.22;2.26;1.68	5.15	4.26	0.50523	.	0.406919	0.24405	N	0.038818	T	0.14227	0.0344	N	0.24115	0.695	0.26925	N	0.966594	B;D;P;P;P	0.56968	0.18;0.978;0.791;0.828;0.593	B;P;B;B;B	0.50659	0.047;0.647;0.196;0.254;0.187	T	0.02683	-1.1124	10	0.51188	T	0.08	-10.6549	13.442	0.61119	0.0:0.2347:0.7653:0.0	.	688;505;782;812;810	B7Z2N2;O60641-3;E5RI02;O60641;E1P549	.;.;.;AP180_HUMAN;.	V	807;812;812;807;812;505;782;812;505;153	ENSP00000429776:A807V;ENSP00000358708:A812V;ENSP00000400459:A812V;ENSP00000195649:A807V;ENSP00000412492:A812V;ENSP00000413277:A505V;ENSP00000428511:A782V;ENSP00000428215:A812V;ENSP00000428026:A505V;ENSP00000430255:A153V	ENSP00000195649:A807V	A	-	2	0	SNAP91	84341455	1.000000	0.71417	0.998000	0.56505	0.457000	0.32468	2.951000	0.49089	2.408000	0.81797	0.591000	0.81541	GCA		0.522	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1		
EGFR	1956	broad.mit.edu	37	7	55214319	55214319	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr7:55214319C>T	ENST00000275493.2	+	4	622	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W	EGFR_ENST00000344576.2_Missense_Mutation_p.R149W|EGFR_ENST00000455089.1_Intron|EGFR_ENST00000420316.2_Missense_Mutation_p.R149W|EGFR_ENST00000454757.2_Missense_Mutation_p.R96W|EGFR_ENST00000442591.1_Missense_Mutation_p.R149W|EGFR_ENST00000342916.3_Missense_Mutation_p.R149W	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	149			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		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)			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)	TGGCGCCGTGCGGTTCAGCAA	0.532		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		0		p.V30_R297>G(5)		lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(445-447)CGG>TGG		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						106.0	91.0	96.0					7																	55214319		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55214319C>T		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.445C>T	7.37:g.55214319C>T	ENSP00000275493:p.Arg149Trp	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.2_Missense_Mutation_p.R149W|EGFR_uc003tqi.2_Missense_Mutation_p.R149W|EGFR_uc003tqj.2_Missense_Mutation_p.R149W|EGFR_uc010kzg.1_Intron|EGFR_uc011kco.1_Missense_Mutation_p.R96W	p.R149W	NM_005228	NP_005219	P00533	EGFR_HUMAN	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)		4	691	+	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)		149			Approximate.|Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.445C>T	CCDS5514.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.30|11.30	1.598200|1.598200	0.28445|0.28445	.|.	.|.	ENSG00000146648|ENSG00000146648	ENST00000395504|ENST00000342916;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000450046;ENST00000454757	.|T;T;T;T;T;T;T	.|0.80214	.|-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35	5.6|5.6	3.68|3.68	0.42216|0.42216	.|EGF receptor, L domain (1);	.|0.278660	.|0.33591	.|N	.|0.004753	D|D	0.89312|0.89312	0.6679|0.6679	M|M	0.88906|0.88906	2.99|2.99	0.24795|0.24795	N|N	0.992738|0.992738	.|B;D;B;B	.|0.89917	.|0.169;1.0;0.262;0.329	.|B;D;B;B	.|0.74348	.|0.029;0.983;0.025;0.051	T|T	0.81402|0.81402	-0.0949|-0.0949	6|10	0.02654|0.45353	T|T	1|0.12	.|.	9.8111|9.8111	0.40824|0.40824	0.3142:0.5698:0.1161:0.0|0.3142:0.5698:0.1161:0.0	.|.	.|149;149;149;149	.|P00533;P00533-3;P00533-4;P00533-2	.|EGFR_HUMAN;.;.;.	V|W	20|149;149;149;149;149;96;96	.|ENSP00000342376:R149W;ENSP00000345973:R149W;ENSP00000413843:R149W;ENSP00000275493:R149W;ENSP00000410031:R149W;ENSP00000413354:R96W;ENSP00000395243:R96W	ENSP00000378880:A20V|ENSP00000275493:R149W	A|R	+|+	2|1	0|2	EGFR|EGFR	55181813|55181813	1.000000|1.000000	0.71417|0.71417	0.977000|0.977000	0.42913|0.42913	0.399000|0.399000	0.30720|0.30720	1.571000|1.571000	0.36450|0.36450	0.646000|0.646000	0.30693|0.30693	-0.176000|-0.176000	0.13171|0.13171	GCG|CGG		0.532	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
PIK3CG	5294	broad.mit.edu	37	7	106508473	106508473	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr7:106508473C>T	ENST00000359195.3	+	2	777	c.467C>T	c.(466-468)gCg>gTg	p.A156V	PIK3CG_ENST00000496166.1_Missense_Mutation_p.A156V|PIK3CG_ENST00000440650.2_Missense_Mutation_p.A156V	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	156					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CAGCTCACGGCGCTGATTGGC	0.682																																						uc003vdv.3																			0				lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						c.(466-468)GCG>GTG		phosphoinositide-3-kinase, catalytic, gamma							16.0	19.0	18.0					7																	106508473		2201	4294	6495	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106508473C>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.467C>T	7.37:g.106508473C>T	ENSP00000352121:p.Ala156Val					PIK3CG_uc003vdu.2_Missense_Mutation_p.A156V|PIK3CG_uc003vdw.2_Missense_Mutation_p.A156V	p.A156V	NM_002649	NP_002640	P48736	PK3CG_HUMAN			2	552	+			156					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.467C>T	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	C	4.123	0.021022	0.08006	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.69040	-0.37;-0.37;-0.37	5.33	4.32	0.51571	.	0.543240	0.21716	N	0.070186	T	0.45498	0.1345	N	0.14661	0.345	0.19575	N	0.999963	B	0.18310	0.027	B	0.12156	0.007	T	0.14531	-1.0469	10	0.15952	T	0.53	-13.9997	11.092	0.48121	0.3972:0.6028:0.0:0.0	.	156	P48736	PK3CG_HUMAN	V	156	ENSP00000392258:A156V;ENSP00000419260:A156V;ENSP00000352121:A156V	ENSP00000352121:A156V	A	+	2	0	PIK3CG	106295709	0.035000	0.19736	0.036000	0.18154	0.401000	0.30781	2.562000	0.45914	2.647000	0.89833	0.460000	0.39030	GCG		0.682	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1		
POLR3D	661	broad.mit.edu	37	8	22106786	22106786	+	Silent	SNP	C	C	T	rs139222181		TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr8:22106786C>T	ENST00000397802.4	+	6	1100	c.885C>T	c.(883-885)gaC>gaT	p.D295D	POLR3D_ENST00000306433.4_Silent_p.D295D			P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide D, 44kDa	295					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		AGGGCGAGGACGGACAGGTGG	0.597													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19352	0.0		0.0	False		,,,				2504	0.0					uc003xbl.2																			0					0						c.(883-885)GAC>GAT		polymerase (RNA) III (DNA directed) polypeptide		C		6,4400	9.9+/-24.2	0,6,2197	77.0	67.0	71.0		885	0.5	1.0	8	dbSNP_134	71	0,8600		0,0,4300	no	coding-synonymous	POLR3D	NM_001722.2		0,6,6497	TT,TC,CC		0.0,0.1362,0.0461		295/399	22106786	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	661				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	g.chr8:22106786C>T	M17754	CCDS34858.1	8q21	2013-01-21	2003-04-01	2003-04-04	ENSG00000168495	ENSG00000168495		"""RNA polymerase subunits"""	1080	protein-coding gene	gene with protein product		187280	"""BN51 (BHK21) temperature sensitivity complementing"""	BN51T		12391170, 11279001	Standard	NM_001722		Approved	TSBN51, RPC4	uc003xbl.3	P05423	OTTHUMG00000163778	ENST00000397802.4:c.885C>T	8.37:g.22106786C>T						POLR3D_uc003xbm.2_Silent_p.D295D|POLR3D_uc011kze.1_Intron	p.D295D	NM_001722	NP_001713	P05423	RPC4_HUMAN		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)	7	968	+			295					Q6FI28|Q9BPV7|Q9BPZ1|Q9BXB3	Silent	SNP	ENST00000397802.4	37	c.885C>T	CCDS34858.1																																																																																				0.597	POLR3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375434.2	NM_001722	
MLLT3	4300	broad.mit.edu	37	9	20448206	20448206	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr9:20448206delG	ENST00000380338.4	-	4	621	c.335delC	c.(334-336)ccafs	p.P113fs	MLLT3_ENST00000475957.1_Intron|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Frame_Shift_Del_p.P110fs	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	113					anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		ATTCACTGGTGGATGGCCTTC	0.448			T	MLL	ALL																																	uc003zoe.2				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		0				lung(2)|ovary(1)	3						c.(334-336)CCAfs		myeloid/lymphoid or mixed-lineage leukemia							144.0	145.0	145.0					9																	20448206		2203	4300	6503	SO:0001589	frameshift_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20448206delG	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.335delC	9.37:g.20448206delG	ENSP00000369695:p.Pro113fs					MLLT3_uc011lne.1_Frame_Shift_Del_p.P80fs|MLLT3_uc011lnf.1_Frame_Shift_Del_p.P109fs|MLLT3_uc003zof.2_Intron|MLLT3_uc011lng.1_Frame_Shift_Del_p.P80fs	p.P112fs	NM_004529	NP_004520	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	4	594	-			112			YEATS.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Frame_Shift_Del	DEL	ENST00000380338.4	37	c.335delC	CCDS6494.1																																																																																				0.448	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529	
OR1B1	347169	broad.mit.edu	37	9	125391091	125391091	+	Nonsense_Mutation	SNP	G	G	A	rs556567774		TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr9:125391091G>A	ENST00000304833.3	-	1	761	c.724C>T	c.(724-726)Cga>Tga	p.R242*	RP11-64P14.7_ENST00000431442.1_RNA|RP11-64P14.7_ENST00000419604.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						GAGACTGCTCGGCGGCGACCA	0.557																																						uc011lyz.1																			0					0						c.(724-726)CGA>TGA		olfactory receptor, family 1, subfamily B,							78.0	73.0	75.0					9																	125391091		2203	4300	6503	SO:0001587	stop_gained	347169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125391091G>A	AC006313	CCDS35126.1	9q33.2	2012-08-09			ENSG00000171484	ENSG00000171484		"""GPCR / Class A : Olfactory receptors"""	8181	protein-coding gene	gene with protein product							Standard	NM_001004450		Approved	OR9-B	uc011lyz.2	Q8NGR6	OTTHUMG00000020616	ENST00000304833.3:c.724C>T	9.37:g.125391091G>A	ENSP00000303151:p.Arg242*						p.R242*	NM_001004450	NP_001004450	Q8NGR6	OR1B1_HUMAN			1	724	-			242			Cytoplasmic (Potential).		Q6IFN3	Nonsense_Mutation	SNP	ENST00000304833.3	37	c.724C>T	CCDS35126.1	.	.	.	.	.	.	.	.	.	.	g	10.65	1.409166	0.25378	.	.	ENSG00000171484	ENST00000304833	.	.	.	4.72	-0.892	0.10570	.	0.498113	0.15228	N	0.273587	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-1.995	5.757	0.18178	0.1691:0.0:0.2627:0.5682	.	.	.	.	X	242	.	ENSP00000303151:R242X	R	-	1	2	OR1B1	124430912	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	0.437000	0.21543	0.011000	0.14865	-0.148000	0.13756	CGA		0.557	OR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053947.2	NM_001004450	
NUDT11	55190	broad.mit.edu	37	X	51239120	51239120	+	Silent	SNP	G	G	A			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chrX:51239120G>A	ENST00000375992.3	-	1	328	c.177C>T	c.(175-177)ggC>ggT	p.G59G		NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11	59	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					CCGCCGCACCGCCCGGCTCCT	0.662										HNSCC(48;0.14)																											GBM(38;198 791 1498 11752 13599)	uc010njt.2																			0					0						c.(175-177)GGC>GGT		nudix-type motif 11							26.0	34.0	31.0					X																	51239120		2191	4284	6475	SO:0001819	synonymous_variant	55190					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239120G>A	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"""Nudix motif containing"""	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531	ENST00000375992.3:c.177C>T	X.37:g.51239120G>A		HNSCC(48;0.14)					p.G59G	NM_018159	NP_060629	Q96G61	NUD11_HUMAN			1	340	-	Ovarian(276;0.236)		59			Nudix box.|Nudix hydrolase.		Q9NVN0	Silent	SNP	ENST00000375992.3	37	c.177C>T	CCDS43952.1																																																																																				0.662	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1		
STAG2	10735	broad.mit.edu	37	X	123197901	123197901	+	Splice_Site	SNP	G	G	C			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chrX:123197901G>C	ENST00000371160.1	+	20	2315	c.2025G>C	c.(2023-2025)gaG>gaC	p.E675D	STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Splice_Site_p.E675D|STAG2_ENST00000371157.3_Splice_Site_p.E675D|STAG2_ENST00000371144.3_Splice_Site_p.E675D|STAG2_ENST00000371145.3_Splice_Site_p.E675D|STAG2_ENST00000354548.5_Splice_Site_p.E606D	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	675					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TTCTGCAAGAGGTATATATTA	0.358																																						uc004etz.3																			0				ovary(4)|skin(1)	5						c.(2023-2025)GAG>GAC		stromal antigen 2 isoform b							21.0	19.0	20.0					X																	123197901		2192	4288	6480	SO:0001630	splice_region_variant	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123197901G>C	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.2025+1G>C	X.37:g.123197901G>C						STAG2_uc004eua.2_Missense_Mutation_p.E675D|STAG2_uc004eub.2_Missense_Mutation_p.E675D|STAG2_uc004euc.2_Missense_Mutation_p.E675D|STAG2_uc004eud.2_Missense_Mutation_p.E675D|STAG2_uc004eue.2_Missense_Mutation_p.E675D	p.E675D	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN			19	2364	+			675					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	c.2025G>C	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709047	0.68615	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T	0.34275	1.76;1.38;1.37;1.37;1.76;1.37	5.5	5.5	0.81552	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.58264	0.2110	M	0.73598	2.24	0.80722	D	1	D;B	0.62365	0.991;0.321	D;B	0.65323	0.934;0.241	T	0.54255	-0.8321	10	0.19147	T	0.46	-9.5903	18.4448	0.90680	0.0:0.0:1.0:0.0	.	675;675	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	D	675;606;675;675;675;675	ENSP00000218089:E675D;ENSP00000346555:E606D;ENSP00000360202:E675D;ENSP00000360199:E675D;ENSP00000360187:E675D;ENSP00000360186:E675D	ENSP00000218089:E675D	E	+	3	2	STAG2	123025582	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.978000	0.88095	2.296000	0.77279	0.600000	0.82982	GAG		0.358	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603	Missense_Mutation
DDX26B	203522	broad.mit.edu	37	X	134679466	134679466	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chrX:134679466G>A	ENST00000370752.4	+	3	642	c.308G>A	c.(307-309)aGa>aAa	p.R103K	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	103	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.									large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					AATCTCAATAGATTAATATCT	0.353																																						uc004eyw.3																			0					0						c.(307-309)AGA>AAA		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide							64.0	68.0	67.0					X																	134679466		2203	4300	6503	SO:0001583	missense	203522							g.chrX:134679466G>A	AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"""DEAD-boxes"""	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.308G>A	X.37:g.134679466G>A	ENSP00000359788:p.Arg103Lys						p.R103K	NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN			3	671	+	Acute lymphoblastic leukemia(192;6.56e-05)		103			VWFA.		Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Missense_Mutation	SNP	ENST00000370752.4	37	c.308G>A	CCDS35401.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668698	0.88348	.	.	ENSG00000165359	ENST00000370752	T	0.12569	2.67	5.62	5.62	0.85841	von Willebrand factor, type A (2);	0.000000	0.85682	D	0.000000	T	0.46092	0.1375	M	0.92649	3.33	0.80722	D	1	D	0.59767	0.986	P	0.61592	0.891	T	0.59648	-0.7415	10	0.87932	D	0	-17.7431	17.523	0.87792	0.0:0.0:1.0:0.0	.	103	Q5JSJ4	DX26B_HUMAN	K	103	ENSP00000359788:R103K	ENSP00000359788:R103K	R	+	2	0	DDX26B	134507132	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.353000	0.79882	0.600000	0.82982	AGA		0.353	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058420.1	NM_182540	
SAGE1	55511	broad.mit.edu	37	X	134993470	134993470	+	Missense_Mutation	SNP	T	T	A			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chrX:134993470T>A	ENST00000370709.3	+	16	2125	c.2125T>A	c.(2125-2127)Tgc>Agc	p.C709S	SAGE1_ENST00000537770.1_Missense_Mutation_p.C333S|SAGE1_ENST00000324447.3_Missense_Mutation_p.C709S|SAGE1_ENST00000535938.1_Missense_Mutation_p.C709S			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	709						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					TGGTATTTCATGCAGAAGTAC	0.453																																						uc004ezh.2																			0				ovary(2)|skin(1)	3						c.(2125-2127)TGC>AGC		sarcoma antigen 1							182.0	134.0	150.0					X																	134993470		2203	4300	6503	SO:0001583	missense	55511							g.chrX:134993470T>A	AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.2125T>A	X.37:g.134993470T>A	ENSP00000359743:p.Cys709Ser					SAGE1_uc010nry.1_Missense_Mutation_p.C678S|SAGE1_uc011mvv.1_Missense_Mutation_p.C333S	p.C709S	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN			17	2292	+	Acute lymphoblastic leukemia(192;0.000127)		709					Q5JNW0	Missense_Mutation	SNP	ENST00000370709.3	37	c.2125T>A	CCDS14652.1	.	.	.	.	.	.	.	.	.	.	T	0.011	-1.706235	0.00719	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000537770;ENST00000370709	T;T;T;T	0.31510	1.49;1.49;1.58;1.49	1.4	-1.94	0.07571	.	22.188100	0.01775	N	0.031417	T	0.10723	0.0262	N	0.02539	-0.55	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.21245	-1.0251	10	0.06494	T	0.89	.	4.6818	0.12738	0.0:0.4255:0.0:0.5745	.	333;709	F5H2Z8;Q9NXZ1	.;SAGE1_HUMAN	S	709;709;333;709	ENSP00000323191:C709S;ENSP00000445959:C709S;ENSP00000438276:C333S;ENSP00000359743:C709S	ENSP00000323191:C709S	C	+	1	0	SAGE1	134821136	0.001000	0.12720	0.001000	0.08648	0.035000	0.12851	-0.249000	0.08842	-0.709000	0.05008	0.150000	0.16122	TGC		0.453	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666	
