#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
BNC2	54796	broad.mit.edu	37	9	16436472	16436472	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr9:16436472T>C	ENST00000380672.4	-	6	1777	c.1720A>G	c.(1720-1722)Aga>Gga	p.R574G	BNC2_ENST00000545497.1_Missense_Mutation_p.R479G|BNC2_ENST00000380666.2_Missense_Mutation_p.R574G|BNC2_ENST00000380667.2_Missense_Mutation_p.R507G	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		AGTAAACTTCTATAAAATGGA	0.507																																						uc003zml.3																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60						c.(1720-1722)Aga>Gga		Homo sapiens basonuclin 2 (BNC2), mRNA.							48.0	54.0	52.0					9																	16436472		2203	4300	6503	SO:0001583	missense	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16436472T>C	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.1720A>G	9.37:g.16436472T>C	ENSP00000370047:p.Arg574Gly		Somatic				BNC2_uc011lmw.2_Missense_Mutation_p.R479G|BNC2_uc003zmm.3_Missense_Mutation_p.R532G|BNC2_uc003zmq.1_Missense_Mutation_p.R588G|BNC2_uc003zmr.1_Missense_Mutation_p.R611G|BNC2_uc003zmp.1_Missense_Mutation_p.R602G|BNC2_uc010mij.1_Missense_Mutation_p.R496G|BNC2_uc011lmv.2_Missense_Mutation_p.R400G|BNC2_uc003zmo.1_Missense_Mutation_p.R496G|BNC2_uc003zmj.3_Missense_Mutation_p.R339G|BNC2_uc003zmk.3_Non-coding_Transcript|BNC2_uc003zmi.3_Missense_Mutation_p.R339G|BNC2_uc003zmn.1_Missense_Mutation_p.R339G	p.R574G	NM_017637	NP_060107	WXS	Illumina GAIIx	Phase_I	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	5	1860	-			574			Pro-rich.			Missense_Mutation	SNP	ENST00000380672.4	37	c.1720A>G	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	T	13.62	2.290609	0.40494	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T	0.51817	0.69;0.7;0.76;0.72;0.7	6.07	3.56	0.40772	.	0.000000	0.85682	D	0.000000	T	0.64034	0.2562	M	0.67397	2.05	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D	0.76494	0.999;0.998;0.989;0.998;0.999;0.981;0.998;0.998;0.998	D;D;D;D;D;D;D;D;D	0.78314	0.934;0.981;0.985;0.968;0.991;0.95;0.987;0.987;0.981	T	0.65701	-0.6104	10	0.49607	T	0.09	-12.2417	13.0682	0.59046	0.0:0.0:0.2286:0.7714	.	479;507;574;400;574;531;574;479;339	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	G	574;531;507;479;400;574;574	ENSP00000370047:R574G;ENSP00000408370:R531G;ENSP00000370042:R507G;ENSP00000444640:R479G;ENSP00000370041:R574G	ENSP00000370041:R574G	R	-	1	2	BNC2	16426472	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	2.438000	0.44837	2.326000	0.78906	0.533000	0.62120	AGA		0.507	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		30	62	0	0	0	1	0	30	62				
PCDH11X	27328	broad.mit.edu	37	X	91090988	91090988	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chrX:91090988C>T	ENST00000373094.1	+	1	1330	c.485C>T	c.(484-486)gCg>gTg	p.A162V	PCDH11X_ENST00000395337.2_Missense_Mutation_p.A162V|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A162V|PCDH11X_ENST00000504220.2_Missense_Mutation_p.A162V|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A162V|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A162V	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	162	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ACTCTCCCAGCGGCTGTTGAT	0.343																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.2																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(484-486)gCg>gTg		Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.							36.0	37.0	37.0					X																	91090988		2200	4298	6498	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91090988C>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.485C>T	X.37:g.91090988C>T	ENSP00000362186:p.Ala162Val		Somatic				PCDH11X_uc004efl.2_Missense_Mutation_p.A162V|PCDH11X_uc010nmv.2_Missense_Mutation_p.A162V|PCDH11X_uc004efm.2_Missense_Mutation_p.A162V|PCDH11X_uc004efn.2_Missense_Mutation_p.A162V|PCDH11X_uc004efo.2_Missense_Mutation_p.A162V|PCDH11X_uc004efh.2_Missense_Mutation_p.A162V|PCDH11X_uc004efj.1_Missense_Mutation_p.A162V	p.A162V	NM_032968	NP_116750	WXS	Illumina GAIIx	Phase_I	Q9BZA7	PC11X_HUMAN			0	1330	+			162			Cadherin 2.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.485C>T	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.575181	0.28092	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6	4.44	3.54	0.40534	Cadherin (4);Cadherin-like (1);	0.138116	0.49916	D	0.000122	T	0.29190	0.0726	N	0.11651	0.15	0.35926	D	0.832189	B;B;P;P;P;P;B;B	0.37101	0.083;0.191;0.526;0.526;0.526;0.582;0.047;0.047	B;B;B;B;B;B;B;B	0.31442	0.018;0.036;0.08;0.08;0.08;0.13;0.019;0.019	T	0.31503	-0.9941	10	0.25106	T	0.35	.	12.5927	0.56451	0.0:0.836:0.164:0.0	.	162;162;162;162;162;162;162;162	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	V	162	ENSP00000378746:A162V;ENSP00000362186:A162V;ENSP00000362189:A162V;ENSP00000355040:A162V;ENSP00000362180:A162V;ENSP00000423762:A162V;ENSP00000355105:A162V;ENSP00000384758:A162V;ENSP00000298274:A162V	ENSP00000298274:A162V	A	+	2	0	PCDH11X	90977644	0.999000	0.42202	0.953000	0.39169	0.537000	0.34900	4.217000	0.58547	0.938000	0.37419	0.506000	0.49869	GCG		0.343	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		5	52	0	0	0	1	0	5	52				
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	C	rs121913233		TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr11:533874T>C	ENST00000451590.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|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)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|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 JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												uc001lpv.3	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""	"""infrequent sarcomas, rare other types"""		256	Substitution - Missense(256)	p.Q61R(265)|p.Q61L(230)|p.Q61K(59)|p.Q61H(20)|p.Q61P(6)|p.Q61?(1)|p.Q61Q(1)|p.Q61E(1)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cGg		Homo sapiens v-Ha-ras Harvey rat sarcoma viral oncogene homolog (HRAS), transcript variant 1, mRNA.	Sulindac(DB00605)						117.0	102.0	107.0					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|synaptic transmission	Golgi membrane|cytosol|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>C	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>G	11.37:g.533874T>C	ENSP00000407586:p.Gln61Arg	HNSCC(11;0.0054)	Somatic				HRAS_uc010qvw.2_Missense_Mutation_p.Q61R|HRAS_uc010qvx.2_Missense_Mutation_p.Q61R|HRAS_uc010qvy.2_Non-coding_Transcript	p.Q61R	NM_005343	NP_005334	WXS	Illumina GAIIx	Phase_I	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	370	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>G	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546606	0.45383	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.90870	3.155	0.80722	D	1	B;B	0.21071	0.051;0.008	B;B	0.22152	0.022;0.038	D	0.85970	0.1476	10	0.66056	D	0.02	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	R	61	ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R	ENSP00000309845:Q61R	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		80	71	0	0	0	1	0	80	71				
RDH14	57665	broad.mit.edu	37	2	18736681	18736681	+	Missense_Mutation	SNP	A	A	T			TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr2:18736681A>T	ENST00000381249.3	-	2	894	c.787T>A	c.(787-789)Ttg>Atg	p.L263M	RDH14_ENST00000468071.1_5'UTR	NM_020905.3	NP_065956.1	Q9HBH5	RDH14_HUMAN	retinol dehydrogenase 14 (all-trans/9-cis/11-cis)	263					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)				Vitamin A(DB00162)	GGTTTGACCAACAGTGGAATG	0.473																																						uc010exr.3																			0											c.(1729-1731)Ttg>Atg		Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA.							185.0	177.0	180.0					2																	18736681		2203	4300	6503	SO:0001583	missense	100526794				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding	g.chr2:18736681A>T	AF237952	CCDS1693.1	2p24.2	2011-09-14	2006-05-09		ENSG00000240857	ENSG00000240857	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	19979	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 4"""		"""retinol dehydrogenase 14 (all-trans and 9-cis)"""			12226107, 19027726	Standard	NM_020905		Approved	PAN2, SDR7C4		Q9HBH5	OTTHUMG00000090705	ENST00000381249.3:c.787T>A	2.37:g.18736681A>T	ENSP00000370648:p.Leu263Met		Somatic				NT5C1B-RDH14_uc002rcy.3_3'UTR|NT5C1B-RDH14_uc002rcx.4_Missense_Mutation_p.L263M	p.L577M	NM_001199103	NP_001186032	WXS	Illumina GAIIx	Phase_I	Q96P26	5NT1B_HUMAN			8	1841	-			0						Missense_Mutation	SNP	ENST00000381249.3	37	c.1729T>A	CCDS1693.1	.	.	.	.	.	.	.	.	.	.	A	16.84	3.234650	0.58886	.	.	ENSG00000240857	ENST00000381249	D	0.82081	-1.57	5.67	0.0741	0.14393	NAD(P)-binding domain (1);	.	.	.	.	T	0.79845	0.4516	N	0.25426	0.745	0.50467	D	0.999876	D	0.61697	0.99	P	0.56434	0.798	T	0.75852	-0.3171	9	0.45353	T	0.12	.	10.4886	0.44737	0.4383:0.0:0.5617:0.0	.	263	Q9HBH5	RDH14_HUMAN	M	263	ENSP00000370648:L263M	ENSP00000370648:L263M	L	-	1	2	RDH14	18600162	0.998000	0.40836	0.975000	0.42487	0.918000	0.54935	1.962000	0.40442	0.100000	0.17581	0.533000	0.62120	TTG		0.473	RDH14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207394.1			47	133	0	0	0	1	0	47	133				
PPP1R3B	79660	broad.mit.edu	37	8	8998675	8998675	+	Silent	SNP	T	T	G			TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr8:8998675T>G	ENST00000310455.3	-	2	637	c.487A>C	c.(487-489)Agg>Cgg	p.R163R	PPP1R3B_ENST00000519699.1_Silent_p.R163R|RP11-10A14.3_ENST00000522057.1_RNA|RP11-10A14.3_ENST00000520017.1_RNA	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	163	CBM21. {ECO:0000255|PROSITE- ProRule:PRU00491}.				glycogen metabolic process (GO:0005977)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)	glycogen granule (GO:0042587)|intracellular membrane-bounded organelle (GO:0043231)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase regulator activity (GO:0019888)			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		AACGTCATCCTTATTTTCACG	0.512																																						uc003wsn.4																			0				endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12						c.(487-489)Agg>Cgg		Homo sapiens protein phosphatase 1, regulatory subunit 3B (PPP1R3B), transcript variant 2, mRNA.							231.0	196.0	208.0					8																	8998675		2203	4300	6503	SO:0001819	synonymous_variant	79660				glycogen metabolic process			g.chr8:8998675T>G	AK024067	CCDS5973.1	8p23.1	2012-04-17	2011-10-04		ENSG00000173281	ENSG00000173281		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14942	protein-coding gene	gene with protein product	"""PP1 subunit R4"", ""hepatic glycogen-targeting subunit, G(L)"""	610541	"""protein phosphatase 1, regulatory (inhibitor) subunit 3B"""			11948623, 17555403	Standard	NM_024607		Approved	GL, FLJ14005, PPP1R4	uc003wsn.4	Q86XI6	OTTHUMG00000129329	ENST00000310455.3:c.487A>C	8.37:g.8998675T>G			Somatic				PPP1R3B_uc003wso.4_Silent_p.R163R|PPP1R3B_uc022arp.1_Silent_p.R163R	p.R163R	NM_024607	NP_078883	WXS	Illumina GAIIx	Phase_I	Q86XI6	PPR3B_HUMAN		COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)	1	652	-			163			CBM21.		B3KTV3|Q9H812	Silent	SNP	ENST00000310455.3	37	c.487A>C	CCDS5973.1																																																																																				0.512	PPP1R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251472.1	NM_024607		80	84	0	0	0	1	0	80	84				
POMGNT1	55624	broad.mit.edu	37	1	46663383	46663383	+	Silent	SNP	T	T	C			TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr1:46663383T>C	ENST00000371984.3	-	2	268	c.111A>G	c.(109-111)agA>agG	p.R37R	POMGNT1_ENST00000535522.1_5'Flank|POMGNT1_ENST00000371992.1_Silent_p.R37R|POMGNT1_ENST00000371986.3_Silent_p.R37R|POMGNT1_ENST00000396420.3_Silent_p.R37R	NM_017739.3	NP_060209	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	37					protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					CCTGACAGAATCTCCGCAGGG	0.602																																						uc001cpg.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(109-111)agA>agG		Homo sapiens protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase (POMGNT1), transcript variant 2, mRNA.							71.0	76.0	74.0					1																	46663383		2203	4300	6503	SO:0001819	synonymous_variant	55624				protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity	g.chr1:46663383T>C		CCDS531.1, CCDS57995.1	1p34.1	2014-09-17	2013-07-31		ENSG00000085998	ENSG00000085998	2.4.1.-	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	19139	protein-coding gene	gene with protein product	"""protein O-mannose beta-1,2-N-acetylglucosaminyltransferase"""	606822	"""muscle-eye-brain disease"", ""protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase"""	MEB		11742540, 12788071	Standard	NM_017739		Approved	FLJ20277, MGAT1.2, LGMD2O	uc001cpg.3	Q8WZA1	OTTHUMG00000007604	ENST00000371984.3:c.111A>G	1.37:g.46663383T>C			Somatic				POMGNT1_uc010olx.2_5'Flank|POMGNT1_uc010oly.2_5'Flank|POMGNT1_uc010olz.2_5'Flank|POMGNT1_uc001cpe.3_Silent_p.R37R|POMGNT1_uc001cpf.3_5'UTR|POMGNT1_uc001cpj.3_Silent_p.R37R	p.R37R	NM_001243766	NP_001230695	WXS	Illumina GAIIx	Phase_I	Q8WZA1	PMGT1_HUMAN			1	762	-	Acute lymphoblastic leukemia(166;0.155)		37					D3DQ16|Q5VST2|Q5VST3|Q9BV55|Q9H9L8|Q9NXF9|Q9NYF7	Silent	SNP	ENST00000371984.3	37	c.111A>G	CCDS531.1																																																																																				0.602	POMGNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020146.1	NM_017739		31	76	0	0	0	1	0	31	76				
ABO	28	broad.mit.edu	37	9	136131223	136131223	+	RNA	SNP	C	C	T			TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr9:136131223C>T	ENST00000453660.2	-	0	905				RP11-430N14.4_ENST00000606717.1_RNA			P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation (GO:0006486)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosylgalactoside 3-alpha-galactosyltransferase activity (GO:0004381)|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity (GO:0004380)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		TCGTGCCACACGGCCTCGATG	0.662																																						uc004cda.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11						c.(892-894)Gtg>Atg		Homo sapiens ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) (ABO), mRNA.							57.0	66.0	63.0					9																	136131223		2114	4227	6341			28				protein glycosylation	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding	g.chr9:136131223C>T	AF134415		9q34.2	2014-07-19			ENSG00000175164	ENSG00000175164	2.4.1.40, 2.4.1.37	"""Blood group antigens"", ""Glycosyltransferase family 6 domain containing"""	79	protein-coding gene	gene with protein product		110300				184030	Standard	NM_020469		Approved	A3GALNT, A3GALT1	uc004cda.1	P16442	OTTHUMG00000020872		9.37:g.136131223C>T			Somatic				ABO_uc010naf.1_Missense_Mutation_p.V158M|ABO_uc011mcz.1_Missense_Mutation_p.V158M|ABO_uc010nag.1_Missense_Mutation_p.V158M	p.V298M	NM_020469	NP_065202	WXS	Illumina GAIIx	Phase_I	P16442	BGAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)	7	917	-			299					B0JDB9|O14758|Q14490|Q53I57|Q6ISD4|Q6KFZ2|Q70V27|Q99484|Q99485|Q9NY01|Q9UQ68|Q9UQ69	Missense_Mutation	SNP	ENST00000453660.2	37	c.892G>A																																																																																					0.662	ABO-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000054907.4	NM_020469		18	75	0	0	0	1	0	18	75				
KBTBD7	84078	broad.mit.edu	37	13	41768119	41768120	+	Missense_Mutation	DNP	GC	GC	AG			TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr13:41768119_41768120GC>AG	ENST00000379483.3	-	1	582_583	c.274_275GC>CT	c.(274-276)GCg>CTg	p.A92L		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	92	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		GTAGGGACACGCAGCTGCTAGC	0.619																																						uc001uxw.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(274-276)gcg>CTg		Homo sapiens kelch repeat and BTB (POZ) domain containing 7 (KBTBD7), mRNA.																																				SO:0001583	missense	84078						protein binding	g.chr13:41768119_41768120GC>AG	AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"""BTB/POZ domain containing"""	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.274_275delinsAG	13.37:g.41768119_41768120delinsAG	ENSP00000368797:p.Ala92Leu		Somatic				AK056182_uc001uxv.1_Intron	p.A92L	NM_032138	NP_115514	WXS	Illumina GAIIx	Phase_I	Q8WVZ9	KBTB7_HUMAN		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)	0	583_584	-		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)	92			BTB.		B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Missense_Mutation	DNP	ENST00000379483.3	37	c.274_275GC>CT	CCDS9377.1																																																																																				0.619	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1	NM_032138		8	46	0	0	0	1	0	8	46				
MUC5B	727897	broad.mit.edu	37	11	1271213	1271213	+	Missense_Mutation	SNP	C	C	A	rs555257212		TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr11:1271213C>A	ENST00000529681.1	+	31	13161	c.13103C>A	c.(13102-13104)aCg>aAg	p.T4368K	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.T4371K	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4368	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GTGCTGACCACGAAGGCCACC	0.642																																						uc001lta.3																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(13102-13104)aCg>aAg		Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.							91.0	109.0	103.0					11																	1271213		2126	4219	6345	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1271213C>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.13103C>A	11.37:g.1271213C>A	ENSP00000436812:p.Thr4368Lys		Somatic					p.T4368K	NM_002458	NP_002449	WXS	Illumina GAIIx	Phase_I	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	30	13162	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	4368			23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.13103C>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	c	6.387	0.439594	0.12104	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000535652	T;T	0.24908	1.83;2.0	2.88	-3.33	0.04958	.	.	.	.	.	T	0.17704	0.0425	L	0.54323	1.7	0.09310	N	1	B;B	0.25351	0.124;0.124	B;B	0.18871	0.023;0.023	T	0.40289	-0.9571	9	0.87932	D	0	.	0.8629	0.01197	0.4016:0.2808:0.1641:0.1536	.	4841;4371	A7Y9J9;E9PBJ0	.;.	K	4368;4371;4312;4218;147	ENSP00000436812:T4368K;ENSP00000415793:T4371K	ENSP00000343037:T4312K	T	+	2	0	MUC5B	1227789	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.133000	0.10451	-0.130000	0.11599	0.184000	0.17185	ACG		0.642	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		133	91	0	0	0	1	0	133	91				
OR5B17	219965	broad.mit.edu	37	11	58126180	58126180	+	Silent	SNP	G	G	A	rs146597451		TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr11:58126180G>A	ENST00000357377.3	-	1	362	c.363C>T	c.(361-363)taC>taT	p.Y121Y		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ACACTGCTGCGTAGCGGTCAT	0.473																																						uc010rke.2																			0		p.R120C(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(361-363)taC>taT		Homo sapiens olfactory receptor, family 5, subfamily B, member 17 (OR5B17), mRNA.		G		1,4401	2.1+/-5.4	0,1,2200	124.0	111.0	115.0		363	-7.2	0.0	11	dbSNP_134	115	0,8590		0,0,4295	no	coding-synonymous	OR5B17	NM_001005489.1		0,1,6495	AA,AG,GG		0.0,0.0227,0.0077		121/315	58126180	1,12991	2201	4295	6496	SO:0001819	synonymous_variant	219965				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58126180G>A	AB065849	CCDS31548.1	11q12.1	2012-08-09			ENSG00000197786	ENSG00000197786		"""GPCR / Class A : Olfactory receptors"""	15267	protein-coding gene	gene with protein product				OR5B20P			Standard	NM_001005489		Approved		uc010rke.2	Q8NGF7	OTTHUMG00000167465	ENST00000357377.3:c.363C>T	11.37:g.58126180G>A			Somatic					p.Y121Y	NM_001005489	NP_001005489	WXS	Illumina GAIIx	Phase_I	Q8NGF7	OR5BH_HUMAN			0	363	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	121					Q6IEX1	Silent	SNP	ENST00000357377.3	37	c.363C>T	CCDS31548.1																																																																																				0.473	OR5B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394708.2	NM_001005489		19	74	0	0	0	1	0	19	74				
LRP10	26020	broad.mit.edu	37	14	23345001	23345001	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr14:23345001C>T	ENST00000359591.4	+	5	1535	c.844C>T	c.(844-846)Cag>Tag	p.Q282*	LRP10_ENST00000546834.1_Nonsense_Mutation_p.Q282*	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	282	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				endocytosis (GO:0006897)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		ACTGTCTGGCCAGGCTGTTGT	0.582																																						uc001whd.3																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32						c.(844-846)Cag>Tag		Homo sapiens low density lipoprotein receptor-related protein 10 (LRP10), mRNA.							91.0	75.0	80.0					14																	23345001		2203	4300	6503	SO:0001587	stop_gained	26020				endocytosis	coated pit|integral to membrane		g.chr14:23345001C>T	AF131760	CCDS9578.1	14q11.2	2013-05-29			ENSG00000197324	ENSG00000197324		"""Low density lipoprotein receptors"""	14553	protein-coding gene	gene with protein product		609921				11123907	Standard	XM_005267510		Approved	DKFZP564C1940, MGC8675, LRP9, MST087, MSTP087	uc001whd.3	Q7Z4F1	OTTHUMG00000028705	ENST00000359591.4:c.844C>T	14.37:g.23345001C>T	ENSP00000352601:p.Gln282*		Somatic				LRP10_uc001whe.3_Nonsense_Mutation_p.Q158*	p.Q282*	NM_014045	NP_054764	WXS	Illumina GAIIx	Phase_I	Q7Z4F1	LRP10_HUMAN		GBM - Glioblastoma multiforme(265;0.00549)	4	1397	+	all_cancers(95;4.69e-05)		282			CUB 2.		A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	Nonsense_Mutation	SNP	ENST00000359591.4	37	c.844C>T	CCDS9578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.45|17.45	3.392060|3.392060	0.62066|0.62066	.|.	.|.	ENSG00000197324|ENSG00000197324	ENST00000551466|ENST00000359591;ENST00000546834	.|.	.|.	.|.	5.97|5.97	3.92|3.92	0.45320|0.45320	.|.	.|0.282045	.|0.36932	.|N	.|0.002329	T|.	0.66327|.	0.2778|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.74137|.	-0.3762|.	3|.	.|0.42905	.|T	.|0.14	-10.7722|-10.7722	14.5957|14.5957	0.68403|0.68403	0.3457:0.6543:0.0:0.0|0.3457:0.6543:0.0:0.0	.|.	.|.	.|.	.|.	L|X	183|282	.|.	.|ENSP00000352601:Q282X	P|Q	+|+	2|1	0|0	LRP10|LRP10	22414841|22414841	0.981000|0.981000	0.34729|0.34729	1.000000|1.000000	0.80357|0.80357	0.821000|0.821000	0.46438|0.46438	2.506000|2.506000	0.45433|0.45433	1.472000|1.472000	0.48140|0.48140	0.655000|0.655000	0.94253|0.94253	CCA|CAG		0.582	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071663.3			39	83	0	0	0	1	0	39	83				
RFXAP	5994	broad.mit.edu	37	13	37399626	37399626	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr13:37399626C>A	ENST00000255476.2	+	2	796	c.662C>A	c.(661-663)cCt>cAt	p.P221H	RFXAP_ENST00000472888.1_3'UTR	NM_000538.3	NP_000529.1	O00287	RFXAP_HUMAN	regulatory factor X-associated protein	221	C-terminal domain.				positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;3.5e-07)|Epithelial(112;1.27e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.0069)|BRCA - Breast invasive adenocarcinoma(63;0.0116)|GBM - Glioblastoma multiforme(144;0.0405)		GGGGATCGTCCTGCAAGACCT	0.308																																						uc001uvu.1																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(661-663)cCt>cAt		Homo sapiens regulatory factor X-associated protein (RFXAP), mRNA.							110.0	111.0	111.0					13																	37399626		2203	4300	6503	SO:0001583	missense	5994					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr13:37399626C>A	Y12812	CCDS9359.1	13q14	2014-09-17			ENSG00000133111	ENSG00000133111			9988	protein-coding gene	gene with protein product		601861				9118943	Standard	NM_000538		Approved		uc001uvu.1	O00287	OTTHUMG00000016738	ENST00000255476.2:c.662C>A	13.37:g.37399626C>A	ENSP00000255476:p.Pro221His		Somatic					p.P221H	NM_000538	NP_000529	WXS	Illumina GAIIx	Phase_I	O00287	RFXAP_HUMAN		all cancers(112;3.5e-07)|Epithelial(112;1.27e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.0069)|BRCA - Breast invasive adenocarcinoma(63;0.0116)|GBM - Glioblastoma multiforme(144;0.0405)	1	818	+		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	221			C-terminal domain.		B2R9T8|Q5VZM6|Q8TC40	Missense_Mutation	SNP	ENST00000255476.2	37	c.662C>A	CCDS9359.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691762	0.88735	.	.	ENSG00000133111	ENST00000255476	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.78310	0.4263	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78861	-0.2037	9	0.72032	D	0.01	-7.4864	18.649	0.91423	0.0:1.0:0.0:0.0	.	221	O00287	RFXAP_HUMAN	H	221	.	ENSP00000255476:P221H	P	+	2	0	RFXAP	36297626	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.725000	0.74752	2.752000	0.94435	0.655000	0.94253	CCT		0.308	RFXAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044521.1	NM_000538		18	30	0	0	0	1	0	18	30				
MAP3K15	389840	broad.mit.edu	37	X	19389610	19389610	+	Silent	SNP	C	C	T			TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chrX:19389610C>T	ENST00000338883.4	-	23	3146	c.3147G>A	c.(3145-3147)aaG>aaA	p.K1049K	MAP3K15_ENST00000469203.2_Silent_p.K881K|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_Silent_p.K484K	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1049							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CAATGATTTGCTTGATGTGTC	0.478																																						uc022btq.1																			0				NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(3145-3147)aaG>aaA		Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA.							121.0	95.0	104.0					X																	19389610		2203	4300	6503	SO:0001819	synonymous_variant	389840						ATP binding|MAP kinase kinase kinase activity|metal ion binding	g.chrX:19389610C>T	AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.3147G>A	X.37:g.19389610C>T			Somatic				MAP3K15_uc004czj.2_Silent_p.K484K|MAP3K15_uc004czk.2_Silent_p.K524K|MAP3K15_uc004czi.2_5'UTR	p.K1049K	NM_001001671	NP_001001671	WXS	Illumina GAIIx	Phase_I	Q6ZN16	M3K15_HUMAN			22	3147	-	Hepatocellular(33;0.183)		1049					A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Silent	SNP	ENST00000338883.4	37	c.3147G>A																																																																																					0.478	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		42	59	0	0	0	1	0	42	59				
EPC2	26122	broad.mit.edu	37	2	149528907	149528907	+	Silent	SNP	T	T	G			TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr2:149528907T>G	ENST00000258484.6	+	10	1705	c.1671T>G	c.(1669-1671)gtT>gtG	p.V557V		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	557					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		ATAAAAGAGTTTCTGCAGCAT	0.383																																						uc010zbt.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						c.(1669-1671)gtT>gtG		Homo sapiens enhancer of polycomb homolog 2 (Drosophila) (EPC2), mRNA.							133.0	127.0	129.0					2																	149528907		1880	4100	5980	SO:0001819	synonymous_variant	26122				DNA repair|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:149528907T>G	AF286904	CCDS46422.1	2q23	2008-02-05			ENSG00000135999	ENSG00000135999			24543	protein-coding gene	gene with protein product		611000					Standard	NM_015630		Approved	DKFZP566F2124	uc010zbt.2	Q52LR7	OTTHUMG00000153739	ENST00000258484.6:c.1671T>G	2.37:g.149528907T>G			Somatic					p.V557V	NM_015630	NP_056445	WXS	Illumina GAIIx	Phase_I	Q52LR7	EPC2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0516)	9	1698	+			557					B3KWT7|D3DP89|Q7L9J1|Q96RR7|Q9NUT8|Q9NVR1|Q9UFM9	Silent	SNP	ENST00000258484.6	37	c.1671T>G	CCDS46422.1																																																																																				0.383	EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332278.1	NM_015630		19	76	0	0	0	1	0	19	76				
PLCB3	5331	broad.mit.edu	37	11	64028911	64028911	+	Missense_Mutation	SNP	T	T	G			TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr11:64028911T>G	ENST00000540288.1	+	15	1874	c.1771T>G	c.(1771-1773)Tcc>Gcc	p.S591A	PLCB3_ENST00000279230.6_Missense_Mutation_p.S591A|PLCB3_ENST00000325234.5_Missense_Mutation_p.S524A	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	591	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						TGAGGAGATGTCCACGCTTGT	0.607																																						uc009ypi.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						c.(1771-1773)Tcc>Gcc		Homo sapiens phospholipase C, beta 3 (phosphatidylinositol-specific) (PLCB3), transcript variant 1, mRNA.							164.0	127.0	140.0					11																	64028911		2201	4297	6498	SO:0001583	missense	5331				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr11:64028911T>G	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.1771T>G	11.37:g.64028911T>G	ENSP00000443631:p.Ser591Ala		Somatic				PLCB3_uc009ypg.2_Missense_Mutation_p.S591A|PLCB3_uc009yph.2_Missense_Mutation_p.S524A	p.S591A	NM_000932	NP_000923	WXS	Illumina GAIIx	Phase_I	Q01970	PLCB3_HUMAN			14	1898	+			591			PI-PLC Y-box.		A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	ENST00000540288.1	37	c.1771T>G	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.417766	0.83449	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	T;T;T	0.70045	-0.45;-0.45;-0.45	4.75	4.75	0.60458	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.257208	0.39687	N	0.001281	T	0.81945	0.4930	M	0.83312	2.635	0.54753	D	0.999984	D;D	0.71674	0.994;0.998	D;D	0.91635	0.994;0.999	D	0.84226	0.0464	10	0.56958	D	0.05	.	13.2131	0.59836	0.0:0.0:0.0:1.0	.	524;591	G5E960;Q01970	.;PLCB3_HUMAN	A	591;591;524	ENSP00000279230:S591A;ENSP00000443631:S591A;ENSP00000324660:S524A	ENSP00000279230:S591A	S	+	1	0	PLCB3	63785487	1.000000	0.71417	0.989000	0.46669	0.835000	0.47333	7.914000	0.87478	1.778000	0.52293	0.254000	0.18369	TCC		0.607	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1			11	120	0	0	0	1	0	11	120				
NLRP4	147945	broad.mit.edu	37	19	56373475	56373475	+	Silent	SNP	G	G	A			TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr19:56373475G>A	ENST00000301295.6	+	5	2558	c.2136G>A	c.(2134-2136)agG>agA	p.R712R	NLRP4_ENST00000346986.5_Silent_p.R712R|NLRP4_ENST00000587891.1_Silent_p.R637R	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	712					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		ATGACATCAGGTCCCTCTGTG	0.473																																						uc002qmd.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42						c.(2134-2136)agG>agA		Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.							141.0	124.0	130.0					19																	56373475		2203	4300	6503	SO:0001819	synonymous_variant	147945						ATP binding	g.chr19:56373475G>A	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.2136G>A	19.37:g.56373475G>A			Somatic				NLRP4_uc002qmf.3_Silent_p.R637R|NLRP4_uc010etf.3_Silent_p.R543R	p.R712R	NM_134444	NP_604393	WXS	Illumina GAIIx	Phase_I	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	4	2558	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	712					Q86W87|Q96AY6	Silent	SNP	ENST00000301295.6	37	c.2136G>A	CCDS12936.1																																																																																				0.473	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		5	89	0	0	0	1	0	5	89				
RSPH14	27156	broad.mit.edu	37	22	23401754	23401754	+	Silent	SNP	C	C	T	rs533095411		TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr22:23401754C>T	ENST00000216036.4	-	7	1129	c.933G>A	c.(931-933)acG>acA	p.T311T		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		311										breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		TGGGCACGTGCGTCTGCAGGG	0.637													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17703	0.0		0.0	False		,,,				2504	0.0					uc002zwt.3																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18						c.(931-933)acG>acA		Homo sapiens rhabdoid tumor deletion region gene 1 (RTDR1), mRNA.							97.0	94.0	95.0					22																	23401754		2203	4300	6503	SO:0001819	synonymous_variant	27156						binding	g.chr22:23401754C>T																												ENST00000216036.4:c.933G>A	22.37:g.23401754C>T			Somatic					p.T311T	NM_014433	NP_055248	WXS	Illumina GAIIx	Phase_I	Q9UHP6	RTDR1_HUMAN		READ - Rectum adenocarcinoma(21;0.175)	6	1091	-	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		311						Silent	SNP	ENST00000216036.4	37	c.933G>A	CCDS13803.1																																																																																				0.637	RTDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319049.1			40	140	0	0	0	1	0	40	140				
RNY4P30	100862673	broad.mit.edu	37	13	50464763	50464763	+	RNA	SNP	G	G	A			TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr13:50464763G>A	ENST00000410216.1	-	0	0									RNA, Ro-associated Y4 pseudogene 30																		GCCTTACTGGGGGCTGGTCCT	0.612																																						uc001vdk.2																			0											c.(37-39)Ggg>Agg		Homo sapiens CTAGE family, member 10, pseudogene (CTAGE10P), non-coding RNA.																																						220429							g.chr13:50464763G>A			13q14.2	2011-08-03			ENSG00000222148	ENSG00000222148			42498	pseudogene	RNA, pseudogene							Standard	NG_032103		Approved						13.37:g.50464763G>A			Somatic					p.G13R			WXS	Illumina GAIIx	Phase_I					0	219	+									Missense_Mutation	SNP	ENST00000410216.1	37	c.37G>A																																																																																					0.612	RNY4P30-201	KNOWN	basic	misc_RNA	misc_RNA				13	17	0	0	0	1	0	13	17				
SMTNL1	219537	broad.mit.edu	37	11	57310279	57310279	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr11:57310279A>G	ENST00000399154.2	+	1	164	c.164A>G	c.(163-165)aAg>aGg	p.K55R	SMTNL1_ENST00000457912.1_Missense_Mutation_p.K73R|SMTNL1_ENST00000527972.1_Missense_Mutation_p.K55R			A8MU46	SMTL1_HUMAN	smoothelin-like 1	55	Glu-rich.				negative regulation of vasodilation (GO:0045908)|positive regulation of vasoconstriction (GO:0045907)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						AAGCAGGAAAAGGCACCAGCC	0.567																																						uc021qjh.1																			0				endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						c.(163-165)aAg>aGg		Homo sapiens smoothelin-like 1 (SMTNL1), mRNA.							47.0	53.0	51.0					11																	57310279		1998	4176	6174	SO:0001583	missense	219537							g.chr11:57310279A>G	BX116227		11q12.1	2006-02-02				ENSG00000214872			32394	protein-coding gene	gene with protein product	"""calponin homology-associated smooth muscle protein"""	613664				15327999	Standard	NM_001105565		Approved	CHASM	uc021qjh.1	A8MU46		ENST00000399154.2:c.164A>G	11.37:g.57310279A>G	ENSP00000382108:p.Lys55Arg		Somatic					p.K55R	NM_001105565	NP_001099035	WXS	Illumina GAIIx	Phase_I	E9PPJ3	E9PPJ3_HUMAN			0	166	+			55						Missense_Mutation	SNP	ENST00000399154.2	37	c.164A>G		.	.	.	.	.	.	.	.	.	.	A	1.139	-0.650054	0.03506	.	.	ENSG00000214872	ENST00000457912;ENST00000527972;ENST00000399154	D;D;T	0.93712	-3.27;-3.25;4.23	5.05	-0.241	0.13043	.	1.298600	0.06333	N	0.706457	T	0.78155	0.4239	N	0.04203	-0.255	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.69881	-0.5025	10	0.02654	T	1	-2.0282	0.4087	0.00437	0.2972:0.1949:0.1258:0.3822	.	73	C9J621	.	R	73;55;55	ENSP00000406485:K73R;ENSP00000432651:K55R;ENSP00000382108:K55R	ENSP00000382108:K55R	K	+	2	0	SMTNL1	57066855	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	0.129000	0.15830	0.007000	0.14760	0.533000	0.62120	AAG		0.567	SMTNL1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_166203		3	35	0	0	0	1	0	3	35				
