#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
VPS13D	55187	broad.mit.edu	37	1	12418559	12418559	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr1:12418559C>T	ENST00000358136.3	+	50	10173	c.10043C>T	c.(10042-10044)cCg>cTg	p.P3348L	VPS13D_ENST00000356315.4_Missense_Mutation_p.P3323L	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GAAGGCATGCCGGGCTGGTGT	0.512																																						uc001atv.2																			0				ovary(4)|pancreas(1)	5						c.(10042-10044)CCG>CTG		vacuolar protein sorting 13D isoform 1							116.0	114.0	114.0					1																	12418559		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12418559C>T	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.10043C>T	1.37:g.12418559C>T	ENSP00000350854:p.Pro3348Leu					VPS13D_uc001atw.2_Missense_Mutation_p.P3323L|VPS13D_uc001atx.2_Missense_Mutation_p.P2535L	p.P3348L	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	50	10184	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	3347						Missense_Mutation	SNP	ENST00000358136.3	37	c.10043C>T	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.462796|5.462796	0.96257|0.96257	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000356315;ENST00000358136|ENST00000011700	T;T|.	0.55413|.	0.52;0.52|.	6.16|6.16	6.16|6.16	0.99307|0.99307	Vacuolar protein sorting-associated protein (1);|.	0.048798|.	0.85682|.	D|.	0.000000|.	T|T	0.73225|0.73225	0.3560|0.3560	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	D;D|.	0.64830|.	0.984;0.994|.	P;P|.	0.57679|.	0.571;0.825|.	T|T	0.68070|0.68070	-0.5506|-0.5506	10|5	0.20046|.	T|.	0.44|.	.|.	19.0404|19.0404	0.92997|0.92997	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	3323;3347|.	Q5THJ4-2;Q5THJ4|.	.;VP13D_HUMAN|.	L|W	3323;3348|2170	ENSP00000348666:P3323L;ENSP00000350854:P3348L|.	ENSP00000348666:P3323L|.	P|R	+|+	2|1	0|2	VPS13D|VPS13D	12341146|12341146	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.487000|7.487000	0.81328|0.81328	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	CCG|CGG		0.512	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378	
RPL11	6135	broad.mit.edu	37	1	24018320	24018320	+	Splice_Site	SNP	G	G	C			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr1:24018320G>C	ENST00000374550.3	+	1	51		c.e1+1			NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein localization to nucleus (GO:0034504)|protein targeting (GO:0006605)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		CATCATGGCGGTGAGTAGCTG	0.607											OREG0013231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001bhk.2																			0				central_nervous_system(1)	1						c.e1+1		ribosomal protein L11							81.0	89.0	86.0					1																	24018320		2203	4300	6503	SO:0001630	splice_region_variant	6135				endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome	g.chr1:24018320G>C	L05092	CCDS238.1	1p36.1-p35	2011-04-06			ENSG00000142676	ENSG00000142676		"""L ribosomal proteins"""	10301	protein-coding gene	gene with protein product		604175				9582194, 10343117	Standard	NM_000975		Approved	L11	uc001bhk.3	P62913	OTTHUMG00000002926	ENST00000374550.3:c.6+1G>C	1.37:g.24018320G>C			OREG0013231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	768	RPL11_uc001bhl.2_Splice_Site_p.A2_splice|RPL11_uc001bhm.2_5'Flank|RPL11_uc001bhn.1_5'Flank	p.A2_splice	NM_000975	NP_000966	P62913	RL11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)	1	26	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)						P25121|P39026|Q8TDH2|Q9Y674	Splice_Site	SNP	ENST00000374550.3	37	c.6_splice	CCDS238.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676592	0.67928	.	.	ENSG00000142676	ENST00000374550	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8839	0.92367	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RPL11	23890907	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	8.374000	0.90133	2.458000	0.83093	0.563000	0.77884	.		0.607	RPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008168.1	NM_000975	Intron
LEPR	3953	broad.mit.edu	37	1	66083830	66083830	+	Splice_Site	SNP	G	G	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr1:66083830G>T	ENST00000349533.6	+	16	2580		c.e16+1		LEPR_ENST00000371060.3_Splice_Site|LEPR_ENST00000371059.3_Splice_Site|LEPR_ENST00000344610.8_Splice_Site|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Splice_Site	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor						negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TATATCCATGGTAAGTTTACT	0.259																																						uc001dci.2																			0				skin(1)	1						c.e16+1		leptin receptor isoform 1							52.0	58.0	56.0					1																	66083830		2201	4292	6493	SO:0001630	splice_region_variant	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66083830G>T	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.2395+1G>T	1.37:g.66083830G>T						LEPR_uc001dcg.2_Splice_Site_p.D799_splice|LEPR_uc001dch.2_Splice_Site_p.D799_splice|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Splice_Site_p.D799_splice|LEPR_uc001dck.2_Splice_Site_p.D799_splice	p.D799_splice	NM_002303	NP_002294	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	16	2597	+								Q6FHL5	Splice_Site	SNP	ENST00000349533.6	37	c.2395_splice	CCDS631.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.790537	0.70337	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8765	0.96875	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LEPR	65856418	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	7.030000	0.76484	2.695000	0.91970	0.650000	0.86243	.		0.259	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303	Intron
RPL5	6125	broad.mit.edu	37	1	93299218	93299218	+	Splice_Site	SNP	G	G	C			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr1:93299218G>C	ENST00000370321.3	+	3	279		c.e3+1			NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	5S rRNA binding (GO:0008097)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		CATTTGTCAGGTAAGTTGTAT	0.393																																						uc001doz.2																			0					0	GRCh37	CS086169	RPL5	S		c.e3+1		ribosomal protein L5							54.0	60.0	58.0					1																	93299218		2203	4300	6503	SO:0001630	splice_region_variant	6125				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome	g.chr1:93299218G>C	U14966	CCDS741.1	1p22.1	2014-06-13			ENSG00000122406	ENSG00000122406		"""L ribosomal proteins"""	10360	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 135"""	603634				7937132, 7772601	Standard	NM_000969		Approved	L5, PPP1R135	uc001doz.3	P46777	OTTHUMG00000010899	ENST00000370321.3:c.189+1G>C	1.37:g.93299218G>C						FAM69A_uc001dpc.2_Intron|RPL5_uc001dpa.2_Splice_Site|RPL5_uc001dpb.2_Splice_Site_p.Q13_splice|RPL5_uc001dpd.2_5'Flank	p.Q63_splice	NM_000969	NP_000960	P46777	RL5_HUMAN		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)	3	267	+		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)						Q32LZ3|Q53HH6|Q9H3F4	Splice_Site	SNP	ENST00000370321.3	37	c.189_splice	CCDS741.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.292172	0.80914	.	.	ENSG00000122406	ENST00000432788;ENST00000370321;ENST00000315741	.	.	.	4.59	4.59	0.56863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3893	0.87425	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RPL5	93071806	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.755000	0.98912	2.088000	0.63022	0.555000	0.69702	.		0.393	RPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030058.2	NM_000969	Intron
CD101	9398	broad.mit.edu	37	1	117552817	117552817	+	Missense_Mutation	SNP	A	A	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr1:117552817A>T	ENST00000256652.4	+	2	447	c.389A>T	c.(388-390)tAc>tTc	p.Y130F	CD101_ENST00000369470.1_Missense_Mutation_p.Y130F	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	130	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GATGAGAAATACTATGGAAGT	0.463																																						uc010oxb.1																			0				skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(388-390)TAC>TTC		immunoglobulin superfamily, member 2 precursor							88.0	81.0	83.0					1																	117552817		2203	4300	6503	SO:0001583	missense	9398				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr1:117552817A>T	Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5949	protein-coding gene	gene with protein product		604516	"""immunoglobulin superfamily, member 2"""	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.389A>T	1.37:g.117552817A>T	ENSP00000256652:p.Tyr130Phe					CD101_uc009whd.2_Missense_Mutation_p.Y130F|CD101_uc010oxc.1_Missense_Mutation_p.Y130F|CD101_uc010oxd.1_Missense_Mutation_p.Y130F	p.Y130F	NM_004258	NP_004249	Q93033	IGSF2_HUMAN			2	447	+			130			Extracellular (Potential).|Ig-like C2-type 1.		Q15856	Missense_Mutation	SNP	ENST00000256652.4	37	c.389A>T	CCDS891.1	.	.	.	.	.	.	.	.	.	.	A	9.754	1.168332	0.21621	.	.	ENSG00000134256	ENST00000256652;ENST00000369470	T;T	0.66638	-0.22;-0.22	5.79	4.62	0.57501	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.086330	0.49916	D	0.000126	T	0.50034	0.1592	L	0.60012	1.86	0.35781	D	0.821659	P	0.34757	0.467	B	0.36719	0.231	T	0.60110	-0.7327	10	0.51188	T	0.08	-9.8682	10.5753	0.45223	0.8563:0.0:0.0:0.1437	.	130	Q93033	IGSF2_HUMAN	F	130	ENSP00000256652:Y130F;ENSP00000358482:Y130F	ENSP00000256652:Y130F	Y	+	2	0	CD101	117354340	1.000000	0.71417	0.604000	0.28916	0.021000	0.10359	3.018000	0.49625	2.207000	0.71202	0.533000	0.62120	TAC		0.463	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1	NM_004258	
NBPF9	400818	broad.mit.edu	37	1	144816536	144816536	+	Silent	SNP	T	T	G			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr1:144816536T>G	ENST00000440491.2	+	5	669	c.669T>G	c.(667-669)acT>acG	p.T223T	NBPF9_ENST00000281815.8_5'UTR|NBPF9_ENST00000338347.4_Silent_p.T223T|NBPF9_ENST00000468645.1_3'UTR	NM_001037675.2	NP_001032764.2	Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	481	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(2)|prostate(1)	3						GTGCCATCACTTATTCAAATA	0.463																																						uc009wig.1																			0					0						c.(1441-1443)ACT>ACG		hypothetical protein LOC400818							106.0	88.0	93.0					1																	144816536		692	1580	2272	SO:0001819	synonymous_variant	400818					cytoplasm		g.chr1:144816536T>G		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"""neuroblastoma breakpoint family"""	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000440491.2:c.669T>G	1.37:g.144816536T>G						NBPF9_uc010oxn.1_Intron|NBPF9_uc010oxo.1_Silent_p.T481T|NBPF9_uc010oxr.1_Intron|NBPF9_uc010oxt.1_Intron|NBPF9_uc001ekg.1_Intron|NBPF9_uc001ekk.1_Intron|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc001eli.3_RNA|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF9_uc009wii.1_Silent_p.T210T|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|NBPF9_uc001elp.2_Silent_p.T141T	p.T481T	NM_001037675	NP_001032764	Q3BBV1	NBPFK_HUMAN			13	1519	+			481			NBPF 2.			Silent	SNP	ENST00000440491.2	37	c.1443T>G		.	.	.	.	.	.	.	.	.	.	.	0.639	-0.814063	0.02798	.	.	ENSG00000168614	ENST00000375552	.	.	.	0.723	-1.45	0.08828	.	.	.	.	.	T	0.06872	0.0175	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.36529	-0.9744	4	.	.	.	.	2.5814	0.04819	0.251:0.0:0.2552:0.4937	.	.	.	.	R	222	.	.	L	+	2	0	NBPF9	143527893	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.616000	0.05591	-1.468000	0.01892	-1.408000	0.01128	CTT		0.463	NBPF9-203	KNOWN	basic	protein_coding	protein_coding		NM_001037675	
NBPF10	100132406	broad.mit.edu	37	1	145360624	145360624	+	Silent	SNP	G	G	A	rs189250898		TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr1:145360624G>A	ENST00000342960.5	+	74	9284	c.9249G>A	c.(9247-9249)tcG>tcA	p.S3083S	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	641						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.S3083S(2)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GATGTTATTCGACTCCTTCAG	0.478																																						uc001end.3																			2	Substitution - coding silent(2)		endometrium(1)|central_nervous_system(1)		0						c.(9472-9474)TCG>TCA		hypothetical protein LOC100132406																																				SO:0001819	synonymous_variant	100132406							g.chr1:145360624G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.9249G>A	1.37:g.145360624G>A						NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc010oyq.1_Intron|NBPF10_uc010oyr.1_Silent_p.S456S	p.S3158S	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	76	9509	+	all_hematologic(923;0.032)		3083					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.9474G>A	CCDS53355.1																																																																																				0.478	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703	
PTPRC	5788	broad.mit.edu	37	1	198721383	198721383	+	Silent	SNP	C	C	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr1:198721383C>T	ENST00000367376.2	+	30	3378	c.3207C>T	c.(3205-3207)atC>atT	p.I1069I	PTPRC_ENST00000442510.2_Silent_p.I1071I|PTPRC_ENST00000348564.6_Silent_p.I910I|PTPRC_ENST00000352140.3_Silent_p.I1021I|PTPRC_ENST00000594404.1_Silent_p.I908I	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1069	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TCTAGGAAATCTGTGCTCAGT	0.388																																						uc001gur.1																			0				breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						c.(3205-3207)ATC>ATT		protein tyrosine phosphatase, receptor type, C							101.0	101.0	101.0					1																	198721383		2203	4300	6503	SO:0001819	synonymous_variant	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198721383C>T	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.3207C>T	1.37:g.198721383C>T						PTPRC_uc001gus.1_Silent_p.I1021I|PTPRC_uc001gut.1_Silent_p.I908I	p.I1069I	NM_002838	NP_002829	P08575	PTPRC_HUMAN			30	3387	+			1069			Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).		A8K7W6|Q16614|Q9H0Y6	Silent	SNP	ENST00000367376.2	37	c.3207C>T																																																																																					0.388	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding			
NAV1	89796	broad.mit.edu	37	1	201750337	201750337	+	Silent	SNP	C	C	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr1:201750337C>T	ENST00000367296.4	+	5	1983	c.1563C>T	c.(1561-1563)atC>atT	p.I521I	NAV1_ENST00000367297.4_Silent_p.I521I|NAV1_ENST00000295624.6_Silent_p.I521I|NAV1_ENST00000367300.3_Silent_p.I521I|NAV1_ENST00000367295.1_Silent_p.I130I|NAV1_ENST00000367302.1_Silent_p.I534I|IPO9-AS1_ENST00000413035.1_RNA	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	521					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						AAAAGCCCATCAGCCTGGGCC	0.577																																						uc001gwu.2																			0				central_nervous_system(3)|ovary(1)	4						c.(1561-1563)ATC>ATT		neuron navigator 1							71.0	75.0	74.0					1																	201750337		2203	4300	6503	SO:0001819	synonymous_variant	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201750337C>T	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.1563C>T	1.37:g.201750337C>T						NAV1_uc001gwv.1_Silent_p.I29I|NAV1_uc001gww.1_Silent_p.I130I|NAV1_uc001gwx.2_Silent_p.I130I|NAV1_uc001gwy.1_5'Flank	p.I521I	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN			5	1910	+			521					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Silent	SNP	ENST00000367296.4	37	c.1563C>T	CCDS1414.2	.	.	.	.	.	.	.	.	.	.	C	10.98	1.504022	0.26949	.	.	ENSG00000134369	ENST00000430015	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.3	19.619	0.95647	0.0:1.0:0.0:0.0	.	.	.	.	X	79	.	.	Q	+	1	0	NAV1	200016960	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.117000	0.41939	2.717000	0.92951	0.655000	0.94253	CAG		0.577	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443	
PCNXL2	80003	broad.mit.edu	37	1	233395011	233395011	+	Silent	SNP	C	C	T	rs200747953		TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr1:233395011C>T	ENST00000258229.9	-	5	831	c.597G>A	c.(595-597)gcG>gcA	p.A199A	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	199						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GTGCTTGAGACGCAGGTAAGC	0.448																																						uc001hvl.2																			0				central_nervous_system(1)|pancreas(1)	2						c.(595-597)GCG>GCA		pecanex-like 2							111.0	106.0	108.0					1																	233395011		1986	4180	6166	SO:0001819	synonymous_variant	80003					integral to membrane		g.chr1:233395011C>T	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.597G>A	1.37:g.233395011C>T						PCNXL2_uc009xfu.2_RNA|PCNXL2_uc009xfv.1_RNA	p.A199A	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN			5	832	-		all_cancers(173;0.0347)|Prostate(94;0.137)	199					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Silent	SNP	ENST00000258229.9	37	c.597G>A	CCDS44335.1																																																																																				0.448	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801	
RYR2	6262	broad.mit.edu	37	1	237794836	237794836	+	Missense_Mutation	SNP	T	T	C			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr1:237794836T>C	ENST00000366574.2	+	42	6867	c.6550T>C	c.(6550-6552)Tcc>Ccc	p.S2184P	RYR2_ENST00000542537.1_Missense_Mutation_p.S2168P|RYR2_ENST00000360064.6_Missense_Mutation_p.S2182P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2184	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGGTGGAGAGTCCAAGGTAAC	0.393																																						uc001hyl.1																			0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(6550-6552)TCC>CCC		cardiac muscle ryanodine receptor							98.0	104.0	102.0					1																	237794836		2026	4218	6244	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237794836T>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6550T>C	1.37:g.237794836T>C	ENSP00000355533:p.Ser2184Pro						p.S2184P	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		42	6670	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2184			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.6550T>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.166560	0.78339	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.88741	-2.42;-2.42;-2.42	5.09	3.88	0.44766	Intracellular calcium-release channel (1);	0.195064	0.33631	N	0.004705	D	0.90075	0.6900	L	0.47716	1.5	0.80722	D	1	D	0.64830	0.994	P	0.60117	0.869	D	0.89827	0.3993	10	0.52906	T	0.07	-12.0033	11.0356	0.47799	0.1391:0.0:0.0:0.8609	.	2184	Q92736	RYR2_HUMAN	P	2184;2182;2168	ENSP00000355533:S2184P;ENSP00000353174:S2182P;ENSP00000443798:S2168P	ENSP00000353174:S2182P	S	+	1	0	RYR2	235861459	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.149000	0.71795	2.042000	0.60477	0.528000	0.53228	TCC		0.393	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
GPR158	57512	broad.mit.edu	37	10	25886887	25886887	+	Missense_Mutation	SNP	G	G	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr10:25886887G>T	ENST00000376351.3	+	11	2691	c.2332G>T	c.(2332-2334)Gac>Tac	p.D778Y	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	778					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GGAGGGCGCCGACCATGGCAC	0.567																																						uc001isj.2																			0				ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						c.(2332-2334)GAC>TAC		G protein-coupled receptor 158 precursor							76.0	84.0	82.0					10																	25886887		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25886887G>T	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2332G>T	10.37:g.25886887G>T	ENSP00000365529:p.Asp778Tyr					GPR158_uc001isk.2_Missense_Mutation_p.D153Y	p.D778Y	NM_020752	NP_065803	Q5T848	GP158_HUMAN			11	2392	+			778			Cytoplasmic (Potential).		Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.2332G>T	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.650654	0.47362	.	.	ENSG00000151025	ENST00000376351	T	0.61040	0.14	5.78	5.78	0.91487	.	0.244102	0.34725	N	0.003738	T	0.54549	0.1865	L	0.29908	0.895	0.53688	D	0.999978	P	0.39044	0.656	B	0.42062	0.374	T	0.57659	-0.7773	10	0.66056	D	0.02	.	20.0026	0.97425	0.0:0.0:1.0:0.0	.	778	Q5T848	GP158_HUMAN	Y	778	ENSP00000365529:D778Y	ENSP00000365529:D778Y	D	+	1	0	GPR158	25926893	1.000000	0.71417	0.830000	0.32933	0.025000	0.11179	9.476000	0.97823	2.722000	0.93159	0.650000	0.86243	GAC		0.567	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110	
GPR158	57512	broad.mit.edu	37	10	25886905	25886905	+	Missense_Mutation	SNP	G	G	C			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr10:25886905G>C	ENST00000376351.3	+	11	2709	c.2350G>C	c.(2350-2352)Ggc>Cgc	p.G784R	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	784					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CACAGCCAAAGGCACTGCCCT	0.547																																						uc001isj.2																			0				ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						c.(2350-2352)GGC>CGC		G protein-coupled receptor 158 precursor							75.0	84.0	81.0					10																	25886905		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25886905G>C	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2350G>C	10.37:g.25886905G>C	ENSP00000365529:p.Gly784Arg					GPR158_uc001isk.2_Missense_Mutation_p.G159R	p.G784R	NM_020752	NP_065803	Q5T848	GP158_HUMAN			11	2410	+			784			Cytoplasmic (Potential).		Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.2350G>C	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	2.276	-0.365776	0.05069	.	.	ENSG00000151025	ENST00000376351	T	0.59772	0.24	5.78	-0.778	0.10977	.	0.615746	0.15560	N	0.255960	T	0.35158	0.0922	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.25916	-1.0118	10	0.08179	T	0.78	.	10.0841	0.42408	0.6195:0.0:0.3805:0.0	.	784	Q5T848	GP158_HUMAN	R	784	ENSP00000365529:G784R	ENSP00000365529:G784R	G	+	1	0	GPR158	25926911	0.996000	0.38824	0.000000	0.03702	0.030000	0.12068	2.685000	0.46959	-0.387000	0.07809	-0.781000	0.03364	GGC		0.547	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110	
MYO3A	53904	broad.mit.edu	37	10	26446423	26446423	+	Missense_Mutation	SNP	T	T	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr10:26446423T>A	ENST00000265944.5	+	26	3144	c.2978T>A	c.(2977-2979)cTt>cAt	p.L993H	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	993	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CATCGGATACTTTTTGCTAAC	0.333																																						uc001isn.2																			0				ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						c.(2977-2979)CTT>CAT		myosin IIIA							79.0	79.0	79.0					10																	26446423		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26446423T>A	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.2978T>A	10.37:g.26446423T>A	ENSP00000265944:p.Leu993His					MYO3A_uc009xko.1_Missense_Mutation_p.L993H|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron	p.L993H	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			26	3338	+			993			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.2978T>A	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	T	16.24	3.068737	0.55539	.	.	ENSG00000095777	ENST00000265944	T	0.73152	-0.72	5.07	5.07	0.68467	Myosin head, motor domain (2);	0.061224	0.64402	D	0.000003	D	0.83413	0.5249	M	0.78285	2.405	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.84217	0.0459	10	0.44086	T	0.13	.	15.1347	0.72555	0.0:0.0:0.0:1.0	.	993	Q8NEV4	MYO3A_HUMAN	H	993	ENSP00000265944:L993H	ENSP00000265944:L993H	L	+	2	0	MYO3A	26486429	1.000000	0.71417	0.996000	0.52242	0.979000	0.70002	4.119000	0.57891	2.042000	0.60477	0.533000	0.62120	CTT		0.333	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433	
CXCL12	6387	broad.mit.edu	37	10	44876321	44876321	+	Silent	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr10:44876321G>A	ENST00000374429.2	-	2	155	c.69C>T	c.(67-69)ccC>ccT	p.P23P	CXCL12_ENST00000496375.1_5'UTR|CXCL12_ENST00000395795.4_Silent_p.P23P|CXCL12_ENST00000395794.2_Silent_p.P23P|CXCL12_ENST00000343575.6_Silent_p.P23P|AL137026.1_ENST00000593376.1_Intron|CXCL12_ENST00000374426.2_Silent_p.P23P|CXCL12_ENST00000395793.3_Silent_p.P23P	NM_000609.5|NM_001277990.1	NP_000600.1|NP_001264919.1	P48061	SDF1_HUMAN	chemokine (C-X-C motif) ligand 12	23					adult locomotory behavior (GO:0008344)|ameboidal cell migration (GO:0001667)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cellular calcium ion homeostasis (GO:0006874)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|motor neuron axon guidance (GO:0008045)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of leukocyte tethering or rolling (GO:1903237)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|patterning of blood vessels (GO:0001569)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell adhesion (GO:0045785)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of T cell migration (GO:2000406)|regulation of actin polymerization or depolymerization (GO:0008064)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation (GO:0042098)|telencephalon cell migration (GO:0022029)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)|CXCR chemokine receptor binding (GO:0045236)|receptor binding (GO:0005102)	p.P23P(3)		endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Tinzaparin(DB06822)	TCAGGCTGACGGGCTTCCCTA	0.507																																						uc001jbf.2																			3	Substitution - coding silent(3)		lung(3)		0						c.(67-69)CCC>CCT		chemokine (C-X-C motif) ligand 12 (stromal	Dexamethasone(DB01234)						197.0	185.0	189.0					10																	44876321		2203	4300	6503	SO:0001819	synonymous_variant	6387				blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity	g.chr10:44876321G>A	L36033	CCDS7207.1, CCDS31186.1, CCDS44373.1, CCDS53527.1, CCDS60518.1	10q11.1	2013-02-28	2010-05-11	2002-08-23	ENSG00000107562	ENSG00000107562		"""Endogenous ligands"""	10672	protein-coding gene	gene with protein product		600835	"""stromal cell-derived factor 1"""	SDF1A, SDF1B, SDF1		7490086	Standard	NM_001033886		Approved	SCYB12, SDF-1a, SDF-1b, PBSF, TLSF-a, TLSF-b, TPAR1	uc021ppm.1	P48061	OTTHUMG00000018054	ENST00000374429.2:c.69C>T	10.37:g.44876321G>A						CXCL12_uc001jbh.2_Silent_p.P23P|CXCL12_uc001jbi.2_Silent_p.P23P	p.P23P	NM_000609	NP_000600	P48061	SDF1_HUMAN			2	158	-			23					B2R4G0|E7EVL0|H7BYN8|Q2L985|Q2L986|Q2L988|Q5IT36|Q6ICW0|Q9H554	Silent	SNP	ENST00000374429.2	37	c.69C>T	CCDS44373.1																																																																																				0.507	CXCL12-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047738.2	NM_000609	
OR52I2	143502	broad.mit.edu	37	11	4609074	4609074	+	Missense_Mutation	SNP	C	C	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr11:4609074C>A	ENST00000312614.4	+	1	1054	c.1032C>A	c.(1030-1032)gaC>gaA	p.D344E		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	344						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCTCTTTGACCATTCCAACC	0.453																																						uc010qyh.1																			0				pancreas(1)	1						c.(1030-1032)GAC>GAA		olfactory receptor, family 52, subfamily I,							136.0	137.0	137.0					11																	4609074		2201	4298	6499	SO:0001583	missense	143502				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4609074C>A	BK004264	CCDS31355.1	11p15.4	2012-08-09			ENSG00000226288	ENSG00000226288		"""GPCR / Class A : Olfactory receptors"""	15221	protein-coding gene	gene with protein product							Standard	NM_001005170		Approved		uc010qyh.2	Q8NH67	OTTHUMG00000165721	ENST00000312614.4:c.1032C>A	11.37:g.4609074C>A	ENSP00000308764:p.Asp344Glu						p.D344E	NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	1032	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	344			Cytoplasmic (Potential).		B2RNJ5|B9EKV8|Q6IFJ8	Missense_Mutation	SNP	ENST00000312614.4	37	c.1032C>A	CCDS31355.1	.	.	.	.	.	.	.	.	.	.	C	7.512	0.654955	0.14580	.	.	ENSG00000226288	ENST00000312614	T	0.00591	6.35	3.79	-6.36	0.01969	.	2.292210	0.02185	N	0.060840	T	0.00356	0.0011	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.49021	-0.8982	10	0.54805	T	0.06	5.3385	0.1982	0.00142	0.2383:0.1928:0.2352:0.3338	.	344	Q8NH67	O52I2_HUMAN	E	344	ENSP00000308764:D344E	ENSP00000308764:D344E	D	+	3	2	OR52I2	4565650	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.355000	0.01088	-1.499000	0.01821	-0.261000	0.10672	GAC		0.453	OR52I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385946.1	NM_001005170	
TEAD1	7003	broad.mit.edu	37	11	12946585	12946585	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr11:12946585G>A	ENST00000526600.1	+	6	935	c.712G>A	c.(712-714)Gta>Ata	p.V238I	TEAD1_ENST00000361905.4_Missense_Mutation_p.V319I|TEAD1_ENST00000527636.1_Missense_Mutation_p.V334I|RP11-47J17.2_ENST00000454086.2_RNA|TEAD1_ENST00000527575.1_Missense_Mutation_p.V276I|TEAD1_ENST00000334310.6_Missense_Mutation_p.V265I|TEAD1_ENST00000361985.2_Missense_Mutation_p.V334I			P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	334	Transcriptional activation. {ECO:0000255}.				gene expression (GO:0010467)|hippo signaling (GO:0035329)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GAAGCAAGTAGTAGAAAAAGT	0.438																																						uc001mkj.3																			0					0						c.(955-957)GTA>ATA		TEA domain family member 1							102.0	96.0	98.0					11																	12946585		2200	4294	6494	SO:0001583	missense	7003				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr11:12946585G>A	X84839	CCDS7810.1, CCDS7810.2	11p15.4	2008-11-12				ENSG00000187079			11714	protein-coding gene	gene with protein product		189967	"""atrophia areata, peripapillary chorioretinal degeneration"""	TCF13, AA		1851669, 9889009, 15016762	Standard	NM_021961		Approved	TEF-1	uc021qdx.1	P28347		ENST00000526600.1:c.712G>A	11.37:g.12946585G>A	ENSP00000435393:p.Val238Ile					TEAD1_uc001mkk.3_Missense_Mutation_p.V238I|TEAD1_uc009ygl.2_Missense_Mutation_p.V155I	p.V319I	NM_021961	NP_068780	P28347	TEAD1_HUMAN		Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)	11	1620	+			334			Transcriptional activation (Potential).		A4FUP2|E7EV65	Missense_Mutation	SNP	ENST00000526600.1	37	c.955G>A		.	.	.	.	.	.	.	.	.	.	G	22.0	4.236450	0.79800	.	.	ENSG00000187079	ENST00000361905;ENST00000527636;ENST00000527575;ENST00000334310;ENST00000361985;ENST00000526600	T;T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34;1.34	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.66752	0.2821	M	0.85630	2.765	0.51767	D	0.999937	P;D;D	0.63046	0.59;0.992;0.972	P;D;P	0.80764	0.72;0.994;0.852	T	0.69851	-0.5033	10	0.62326	D	0.03	-0.1836	19.5476	0.95305	0.0:0.0:1.0:0.0	.	265;238;334	A4FUP2;E9PKB7;P28347	.;.;TEAD1_HUMAN	I	319;334;276;265;334;238	ENSP00000355332:V319I;ENSP00000435233:V334I;ENSP00000435977:V276I;ENSP00000334754:V265I;ENSP00000354588:V334I;ENSP00000435393:V238I	ENSP00000334754:V265I	V	+	1	0	TEAD1	12903161	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.719000	0.93026	0.655000	0.94253	GTA		0.438	TEAD1-007	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000387220.1	NM_021961	
OR5M3	219482	broad.mit.edu	37	11	56237516	56237516	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr11:56237516G>A	ENST00000312240.2	-	1	498	c.458C>T	c.(457-459)aCg>aTg	p.T153M		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					TGCCAGACTCGTCAGAAAACC	0.413																																						uc010rjk.1																			0				ovary(2)	2						c.(457-459)ACG>ATG		olfactory receptor, family 5, subfamily M,							117.0	107.0	111.0					11																	56237516		2201	4295	6496	SO:0001583	missense	219482				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56237516G>A	AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"""GPCR / Class A : Olfactory receptors"""	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.458C>T	11.37:g.56237516G>A	ENSP00000312208:p.Thr153Met						p.T153M	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN			1	458	-	Esophageal squamous(21;0.00448)		153			Helical; Name=4; (Potential).		B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	SNP	ENST00000312240.2	37	c.458C>T	CCDS31532.1	.	.	.	.	.	.	.	.	.	.	G	9.403	1.078593	0.20227	.	.	ENSG00000174937	ENST00000312240	T	0.36878	1.23	5.13	0.792	0.18625	GPCR, rhodopsin-like superfamily (1);	0.747332	0.11913	N	0.517460	T	0.24198	0.0586	L	0.31157	0.91	0.09310	N	1	B	0.22414	0.069	B	0.26202	0.067	T	0.24261	-1.0165	10	0.45353	T	0.12	-6.7954	5.4691	0.16660	0.2551:0.1444:0.6005:0.0	.	153	Q8NGP4	OR5M3_HUMAN	M	153	ENSP00000312208:T153M	ENSP00000312208:T153M	T	-	2	0	OR5M3	55994092	0.000000	0.05858	0.038000	0.18304	0.908000	0.53690	-2.210000	0.01227	0.556000	0.29098	0.478000	0.44815	ACG		0.413	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742	
SCYL1	57410	broad.mit.edu	37	11	65303487	65303487	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr11:65303487C>T	ENST00000270176.5	+	11	1527	c.1450C>T	c.(1450-1452)Cgg>Tgg	p.R484W	SCYL1_ENST00000524944.1_Missense_Mutation_p.R484W|SCYL1_ENST00000533862.1_Missense_Mutation_p.R484W|SCYL1_ENST00000527009.1_Missense_Mutation_p.R341W|SCYL1_ENST00000420247.2_Missense_Mutation_p.R484W|SCYL1_ENST00000525364.1_Missense_Mutation_p.R484W|SCYL1_ENST00000279270.6_Missense_Mutation_p.R484W	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	484					peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|protein tyrosine kinase activity (GO:0004713)			ovary(1)|skin(1)	2						TGCACCGTCCCGGGTTGCGGG	0.597																																						uc001oea.1																			0				skin(1)	1						c.(1450-1452)CGG>TGG		SCY1-like 1 isoform A							75.0	77.0	77.0					11																	65303487		1916	4110	6026	SO:0001583	missense	57410				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity	g.chr11:65303487C>T	AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186			14372	protein-coding gene	gene with protein product	"""teratoma-associated tyrosine kinase"", ""telomerase transcriptional elements-interacting factor"", ""telomerase regulation-associated protein"""	607982	"""N-terminal kinase-like"""	NTKL		11118629	Standard	NM_020680		Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000270176.5:c.1450C>T	11.37:g.65303487C>T	ENSP00000270176:p.Arg484Trp					SCYL1_uc009yqk.2_Missense_Mutation_p.R484W|SCYL1_uc001oeb.1_Missense_Mutation_p.R484W|SCYL1_uc001oec.1_Missense_Mutation_p.R484W|SCYL1_uc001oed.1_Missense_Mutation_p.R341W|SCYL1_uc001oee.1_Missense_Mutation_p.R128W	p.R484W	NM_020680	NP_065731	Q96KG9	NTKL_HUMAN			11	1527	+			484					A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Missense_Mutation	SNP	ENST00000270176.5	37	c.1450C>T	CCDS41672.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.136600	0.77662	.	.	ENSG00000142186	ENST00000270176;ENST00000525364;ENST00000420247;ENST00000533862;ENST00000527630;ENST00000349495;ENST00000279270;ENST00000524944;ENST00000527009	T;T;T;T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51;0.51;0.51;0.51	5.46	4.46	0.54185	Armadillo-like helical (1);Armadillo-type fold (1);	0.220287	0.39083	N	0.001465	T	0.76637	0.4015	M	0.89904	3.07	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.81861	-0.0738	10	0.87932	D	0	-12.9632	14.5158	0.67818	0.1568:0.8432:0.0:0.0	.	484;484;484;484;484	E9PS17;Q96KG9-4;Q96KG9-6;Q96KG9-2;Q96KG9	.;.;.;.;NTKL_HUMAN	W	484;484;484;484;484;484;484;484;341	ENSP00000270176:R484W;ENSP00000431635:R484W;ENSP00000408192:R484W;ENSP00000437254:R484W;ENSP00000433450:R484W;ENSP00000279270:R484W;ENSP00000432175:R484W;ENSP00000436993:R341W	ENSP00000270176:R484W	R	+	1	2	SCYL1	65060063	0.984000	0.35163	1.000000	0.80357	0.763000	0.43281	2.474000	0.45154	2.577000	0.86979	0.462000	0.41574	CGG		0.597	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389159.2	NM_020680	
FAT3	120114	broad.mit.edu	37	11	92568240	92568240	+	Missense_Mutation	SNP	C	C	T	rs374741231		TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr11:92568240C>T	ENST00000298047.6	+	14	10093	c.10076C>T	c.(10075-10077)tCt>tTt	p.S3359F	FAT3_ENST00000409404.2_Missense_Mutation_p.S3359F|FAT3_ENST00000525166.1_Missense_Mutation_p.S3209F			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3359	Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTGGGAGACTCTGTCATTTTG	0.468										TCGA Ovarian(4;0.039)																												uc001pdj.3																			0				ovary(4)|pancreas(1)	5						c.(10075-10077)TCT>TTT		FAT tumor suppressor homolog 3							40.0	41.0	41.0					11																	92568240		1928	4127	6055	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92568240C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.10076C>T	11.37:g.92568240C>T	ENSP00000298047:p.Ser3359Phe	TCGA Ovarian(4;0.039)					p.S3359F	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			14	10093	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3359			Extracellular (Potential).|Cadherin 31.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.10076C>T		.	.	.	.	.	.	.	.	.	.	C	21.9	4.218795	0.79464	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.02709	4.19;4.19;4.19	5.46	5.46	0.80206	.	.	.	.	.	T	0.09949	0.0244	L	0.48877	1.53	0.80722	D	1	D	0.61697	0.99	P	0.58577	0.841	T	0.03394	-1.1041	9	0.48119	T	0.1	.	19.3231	0.94250	0.0:1.0:0.0:0.0	.	3359	Q8TDW7-3	.	F	3359;3359;3209	ENSP00000298047:S3359F;ENSP00000387040:S3359F;ENSP00000432586:S3209F	ENSP00000298047:S3359F	S	+	2	0	FAT3	92207888	0.914000	0.31030	1.000000	0.80357	0.995000	0.86356	4.656000	0.61483	2.539000	0.85634	0.655000	0.94253	TCT		0.468	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
EXPH5	23086	broad.mit.edu	37	11	108380635	108380635	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr11:108380635G>A	ENST00000265843.4	-	6	5709	c.5599C>T	c.(5599-5601)Cgc>Tgc	p.R1867C	EXPH5_ENST00000443411.1_Missense_Mutation_p.R1679C|EXPH5_ENST00000525344.1_Missense_Mutation_p.R1860C|EXPH5_ENST00000428840.1_Missense_Mutation_p.R1791C	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1867					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GTCCCGCTGCGATAAGCCCAA	0.428																																						uc001pkk.2																			0				skin(3)|ovary(2)	5						c.(5599-5601)CGC>TGC		exophilin 5 isoform a							59.0	58.0	58.0					11																	108380635		2201	4298	6499	SO:0001583	missense	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108380635G>A		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.5599C>T	11.37:g.108380635G>A	ENSP00000265843:p.Arg1867Cys					EXPH5_uc010rvy.1_Missense_Mutation_p.R1679C|EXPH5_uc010rvz.1_Missense_Mutation_p.R1711C|EXPH5_uc010rwa.1_Missense_Mutation_p.R1791C	p.R1867C	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	5710	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	1867					Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	c.5599C>T	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.504744	0.26949	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000439956	T;T;T;T	0.02974	4.32;4.24;4.09;4.32	5.63	0.591	0.17465	.	0.628626	0.16337	N	0.218887	T	0.05181	0.0138	L	0.44542	1.39	0.09310	N	1	D	0.61080	0.989	P	0.57776	0.827	T	0.35724	-0.9777	10	0.56958	D	0.05	-0.0019	2.0777	0.03628	0.1246:0.3501:0.1596:0.3657	.	1867	Q8NEV8	EXPH5_HUMAN	C	1867;1791;1679;1860;697	ENSP00000265843:R1867C;ENSP00000391966:R1791C;ENSP00000411390:R1679C;ENSP00000432546:R1860C	ENSP00000265843:R1867C	R	-	1	0	EXPH5	107885845	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	0.271000	0.18626	-0.147000	0.11254	-0.274000	0.10170	CGC		0.428	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065	
DDX6	1656	broad.mit.edu	37	11	118626197	118626197	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr11:118626197C>T	ENST00000526070.2	-	12	1550	c.1190G>A	c.(1189-1191)gGt>gAt	p.G397D	DDX6_ENST00000534980.1_Missense_Mutation_p.G397D|DDX6_ENST00000264018.4_Missense_Mutation_p.G397D	NM_001257191.1	NP_001244120.1	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	397	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cytoplasmic mRNA processing body assembly (GO:0033962)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.G386V(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		TATATCAATACCTCGGGTAAA	0.323			T	IGH@	B-NHL																																	uc001pub.2				Dom	yes		11	11q23.3	1656	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 6			L	IGH@		B-NHL		1	Substitution - Missense(1)		central_nervous_system(1)	ovary(1)	1						c.(1189-1191)GGT>GAT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 6							77.0	71.0	73.0					11																	118626197		1797	4062	5859	SO:0001583	missense	1656				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity	g.chr11:118626197C>T	D17532	CCDS44751.1	11q23.3	2012-02-23	2012-02-23		ENSG00000110367	ENSG00000110367		"""DEAD-boxes"""	2747	protein-coding gene	gene with protein product		600326	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 6"""	HLR2		1579499, 11839790	Standard	NM_004397		Approved	RCK	uc001pub.2	P26196	OTTHUMG00000166411	ENST00000526070.2:c.1190G>A	11.37:g.118626197C>T	ENSP00000433704:p.Gly397Asp					DDX6_uc001pua.2_Missense_Mutation_p.G97D|DDX6_uc001puc.2_Missense_Mutation_p.G397D	p.G397D	NM_004397	NP_004388	P26196	DDX6_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)	12	1551	-	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)	397			Helicase C-terminal.		Q5D048	Missense_Mutation	SNP	ENST00000526070.2	37	c.1190G>A	CCDS44751.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.966930	0.92855	.	.	ENSG00000110367	ENST00000264018;ENST00000534980;ENST00000526070	T;T;T	0.63255	-0.03;-0.03;-0.03	5.39	5.39	0.77823	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.87285	0.6139	H	0.97240	3.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91486	0.5208	10	0.87932	D	0	.	19.1285	0.93396	0.0:1.0:0.0:0.0	.	397	P26196	DDX6_HUMAN	D	397	ENSP00000264018:G397D;ENSP00000442266:G397D;ENSP00000433704:G397D	ENSP00000264018:G397D	G	-	2	0	DDX6	118131407	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.730000	0.84881	2.687000	0.91594	0.650000	0.86243	GGT		0.323	DDX6-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389647.2	NM_004397	
KDM5A	5927	broad.mit.edu	37	12	416952	416953	+	Frame_Shift_Ins	INS	-	-	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr12:416952_416953insT	ENST00000399788.2	-	23	3959_3960	c.3597_3598insA	c.(3595-3600)aaaggafs	p.G1200fs	KDM5A_ENST00000382815.4_Frame_Shift_Ins_p.G1200fs	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1200					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						CAGCTGGATCCTTTTTTTTGGG	0.475			T	NUP98	AML																																	uc001qif.1				Dom	yes		12	12p11	5927	T 	"""lysine (K)-specific demethylase 5A, JARID1A"""			L	NUP98		AML		0				skin(2)|ovary(1)	3						c.(3595-3600)AAAGGAfs		retinoblastoma binding protein 2 isoform 1																																				SO:0001589	frameshift_variant	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:416952_416953insT		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.3598dupA	12.37:g.416960_416960dupT	ENSP00000382688:p.Gly1200fs					KDM5A_uc001qie.1_Frame_Shift_Ins_p.K1199fs	p.K1199fs	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN			23	3960_3961	-			1199_1200			PHD-type 2.		A8MV76|Q4LE72|Q86XZ1	Frame_Shift_Ins	INS	ENST00000399788.2	37	c.3597_3598insA	CCDS41736.1																																																																																				0.475	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056	
B4GALNT3	283358	broad.mit.edu	37	12	662979	662979	+	Silent	SNP	G	G	A	rs200374878		TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr12:662979G>A	ENST00000266383.5	+	14	1903	c.1890G>A	c.(1888-1890)ccG>ccA	p.P630P		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	630					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TGTTTGACCCGGTAGTAAACT	0.547																																						uc001qii.1																			0				ovary(1)|skin(1)	2						c.(1888-1890)CCG>CCA		beta		G		0,4406		0,0,2203	135.0	105.0	116.0		1890	-10.7	0.1	12		116	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	B4GALNT3	NM_173593.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		630/999	662979	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:662979G>A	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.1890G>A	12.37:g.662979G>A						B4GALNT3_uc001qij.1_Silent_p.P533P|B4GALNT3_uc001qik.1_Silent_p.P179P	p.P630P	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		14	1890	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		630			Lumenal (Potential).		Q6ZNC1|Q8N7T6	Silent	SNP	ENST00000266383.5	37	c.1890G>A	CCDS8504.1																																																																																				0.547	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593	
CLSTN3	9746	broad.mit.edu	37	12	7294683	7294683	+	Splice_Site	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr12:7294683G>A	ENST00000266546.6	+	10	1938	c.1488G>A	c.(1486-1488)gaG>gaA	p.E496E	CLSTN3_ENST00000537408.1_Splice_Site_p.E508E	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	496					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						TATCCCCAGAGGAGAAGAACA	0.453											OREG0021650	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001qsr.2																			0				large_intestine(1)	1						c.(1486-1488)GAG>GAA		calsyntenin 3 precursor							93.0	89.0	90.0					12																	7294683		2201	4299	6500	SO:0001630	splice_region_variant	9746				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr12:7294683G>A	AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.1487-1G>A	12.37:g.7294683G>A			OREG0021650	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	640	CLSTN3_uc001qss.2_Silent_p.E508E	p.E496E	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN			10	1766	+			496			Extracellular (Potential).		D3DUT6|O94831|Q2T9J5|Q5UE57	Silent	SNP	ENST00000266546.6	37	c.1488G>A	CCDS8575.1																																																																																				0.453	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718	Silent
RIMKLB	57494	broad.mit.edu	37	12	8926145	8926162	+	In_Frame_Del	DEL	CTGGCCGGCTCACCCGGC	CTGGCCGGCTCACCCGGC	-	rs201378504|rs34259191		TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr12:8926145_8926162delCTGGCCGGCTCACCCGGC	ENST00000538135.1	+	6	1751_1768	c.926_943delCTGGCCGGCTCACCCGGC	c.(925-945)tctggccggctcacccggcgt>tgt	p.309_315SGRLTRR>C	RIMKLB_ENST00000535829.1_In_Frame_Del_p.309_315SGRLTRR>C|RIMKLB_ENST00000299673.5_Intron|A2ML1-AS1_ENST00000537288.1_RNA|RIMKLB_ENST00000357529.3_In_Frame_Del_p.309_315SGRLTRR>C			Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	309					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|citrate-L-glutamate ligase activity (GO:0072591)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)	p.R314W(1)		central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CTTCTACCCTCTGGCCGGCTCACCCGGCGTATGTCCCT	0.55																																						uc001quu.2																			1	Substitution - Missense(1)		large_intestine(1)		0						c.(925-945)TCTGGCCGGCTCACCCGGCGT>TGT		ribosomal modification protein rimK-like family																																				SO:0001651	inframe_deletion	57494				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding	g.chr12:8926145_8926162delCTGGCCGGCTCACCCGGC	AB033064	CCDS41748.1	12p13.31	2011-09-21	2008-10-13	2008-10-13	ENSG00000166532	ENSG00000166532	6.3.2.N6		29228	protein-coding gene	gene with protein product	"""N-acetylaspartyl-glutamate synthetase"""	614054	"""family with sequence similarity 80, member B"""	FAM80B		10574462, 20643647	Standard	XM_006719116		Approved	KIAA1238, NAAGS, NAAGS-I	uc001qux.2	Q9ULI2		ENST00000538135.1:c.926_943delCTGGCCGGCTCACCCGGC	12.37:g.8926145_8926162delCTGGCCGGCTCACCCGGC	ENSP00000440943:p.Ser309_Arg315delinsCys					RIMKLB_uc009zgf.1_Intron|RIMKLB_uc001qux.2_In_Frame_Del_p.309_315SGRLTRR>C|RIMKLB_uc010sgl.1_In_Frame_Del_p.309_315SGRLTRR>C|RIMKLB_uc001quw.2_Intron	p.309_315SGRLTRR>C	NM_020734	NP_065785	Q9ULI2	RIMKB_HUMAN			6	1177_1194	+			309_315					B7Z834|D3DUV2|Q8N4P4|Q8WTW6	In_Frame_Del	DEL	ENST00000538135.1	37	c.926_943delCTGGCCGGCTCACCCGGC	CCDS41748.1																																																																																				0.550	RIMKLB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398874.1	NM_020734	
BCL2L14	79370	broad.mit.edu	37	12	12247837	12247837	+	Silent	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr12:12247837G>A	ENST00000308721.5	+	5	1124	c.918G>A	c.(916-918)tcG>tcA	p.S306S	BCL2L14_ENST00000589718.1_Silent_p.S306S|BCL2L14_ENST00000396369.1_Intron|BCL2L14_ENST00000396367.1_Silent_p.S306S|BCL2L14_ENST00000586576.1_Silent_p.S339S|BCL2L14_ENST00000266434.4_3'UTR	NM_138723.1	NP_620049.1	Q9BZR8	B2L14_HUMAN	BCL2-like 14 (apoptosis facilitator)	306					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular organelle (GO:0043229)|membrane (GO:0016020)	protein kinase binding (GO:0019901)			large_intestine(1)|lung(2)|skin(3)	6		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		AGAACTTCTCGCCATGGATCC	0.448																																						uc001rac.2																			0				skin(1)	1						c.(916-918)TCG>TCA		BCL2-like 14 isoform 1							52.0	46.0	48.0					12																	12247837		2203	4300	6503	SO:0001819	synonymous_variant	79370				apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding	g.chr12:12247837G>A	AF281254	CCDS8645.1, CCDS8646.1	12p13-p12	2014-03-07			ENSG00000121380	ENSG00000121380			16657	protein-coding gene	gene with protein product		606126				11054413	Standard	NM_030766		Approved	BCLG, BCL-G	uc001rac.3	Q9BZR8	OTTHUMG00000159528	ENST00000308721.5:c.918G>A	12.37:g.12247837G>A						ETV6_uc001raa.1_Intron|BCL2L14_uc001raf.1_Intron|BCL2L14_uc001rad.2_Silent_p.S306S|BCL2L14_uc001rae.2_3'UTR	p.S306S	NM_138723	NP_620049	Q9BZR8	B2L14_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.154)	5	1119	+		Prostate(47;0.0872)	306					A8KAD0|Q96QR5|Q9BZR7	Silent	SNP	ENST00000308721.5	37	c.918G>A	CCDS8645.1																																																																																				0.448	BCL2L14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355994.3	NM_030766	
LRP6	4040	broad.mit.edu	37	12	12274335	12274335	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr12:12274335G>A	ENST00000261349.4	-	23	4643	c.4567C>T	c.(4567-4569)Cgg>Tgg	p.R1523W	BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000543091.1_Missense_Mutation_p.R1478W	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1523					anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GCAAAGTGCCGGTAGCTATAT	0.458																																						uc001rah.3																			0				lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1)	12						c.(4567-4569)CGG>TGG		low density lipoprotein receptor-related protein							93.0	97.0	96.0					12																	12274335		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12274335G>A	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.4567C>T	12.37:g.12274335G>A	ENSP00000261349:p.Arg1523Trp					BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.R1478W	p.R1523W	NM_002336	NP_002327	O75581	LRP6_HUMAN			23	4709	-		Prostate(47;0.0865)	1523			Cytoplasmic (Potential).		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.4567C>T	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397123	0.83120	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.94723	-3.38;-3.5	5.86	5.86	0.93980	.	0.000000	0.56097	D	0.000025	D	0.96870	0.8978	L	0.61218	1.895	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.79784	0.903;0.993	D	0.96671	0.9496	10	0.62326	D	0.03	.	20.1821	0.98206	0.0:0.0:1.0:0.0	.	1478;1523	F5H7J9;O75581	.;LRP6_HUMAN	W	1523;1478	ENSP00000261349:R1523W;ENSP00000442472:R1478W	ENSP00000261349:R1523W	R	-	1	2	LRP6	12165602	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.320000	0.79064	2.780000	0.95670	0.643000	0.83706	CGG		0.458	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1		
TPTE2	93492	broad.mit.edu	37	13	20041405	20041405	+	Missense_Mutation	SNP	A	A	C			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr13:20041405A>C	ENST00000400230.2	-	7	516	c.472T>G	c.(472-474)Tac>Gac	p.Y158D	TPTE2_ENST00000382977.4_Missense_Mutation_p.Y158D|TPTE2_ENST00000382978.1_Intron|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000390680.2_Intron			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	158					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AAAAAAATGTAAATGACATCA	0.294																																						uc001umd.2																			0					0						c.(472-474)TAC>GAC		TPTE and PTEN homologous inositol lipid							49.0	54.0	52.0					13																	20041405		2201	4288	6489	SO:0001583	missense	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20041405A>C	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.472T>G	13.37:g.20041405A>C	ENSP00000383089:p.Tyr158Asp					TPTE2_uc009zzk.2_Intron|TPTE2_uc009zzl.2_Intron|TPTE2_uc001ume.2_Intron|TPTE2_uc009zzm.2_Intron|TPTE2_uc010tcm.1_RNA	p.Y158D	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	8	683	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	158			Helical; (Potential).		A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	c.472T>G	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	a	11.69	1.714479	0.30413	.	.	ENSG00000132958	ENST00000400230;ENST00000382977;ENST00000343548	D;D	0.98493	-4.96;-4.96	2.4	2.4	0.29515	Ion transport (1);	0.000000	0.64402	U	0.000001	D	0.97263	0.9105	M	0.78049	2.395	0.36351	D	0.860109	P	0.41673	0.759	P	0.46339	0.513	D	0.96956	0.9698	9	.	.	.	-9.8702	6.7241	0.23346	1.0:0.0:0.0:0.0	.	158	Q6XPS3	TPTE2_HUMAN	D	158	ENSP00000383089:Y158D;ENSP00000372437:Y158D	.	Y	-	1	0	TPTE2	18939405	0.420000	0.25457	0.003000	0.11579	0.004000	0.04260	3.590000	0.53979	1.337000	0.45525	0.383000	0.25322	TAC		0.294	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254	
PABPC3	5042	broad.mit.edu	37	13	25671552	25671552	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr13:25671552G>A	ENST00000281589.3	+	1	1253	c.1216G>A	c.(1216-1218)Gct>Act	p.A406T		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	406					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CTTCATGACAGCTGTCCCACA	0.532																																						uc001upy.2																			0				ovary(3)|skin(1)	4						c.(1216-1218)GCT>ACT		poly(A) binding protein, cytoplasmic 3							156.0	148.0	151.0					13																	25671552		2203	4300	6503	SO:0001583	missense	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25671552G>A	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1216G>A	13.37:g.25671552G>A	ENSP00000281589:p.Ala406Thr						p.A406T	NM_030979	NP_112241	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	1277	+		Lung SC(185;0.0225)|Breast(139;0.0602)	406					Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	c.1216G>A	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	G	10.08	1.251591	0.22880	.	.	ENSG00000151846	ENST00000281589	T	0.28454	1.61	0.875	0.875	0.19130	.	0.000000	0.46758	U	0.000271	T	0.19005	0.0456	L	0.35414	1.06	0.51233	D	0.999915	B	0.16166	0.016	B	0.15484	0.013	T	0.06075	-1.0847	10	0.30078	T	0.28	.	7.5489	0.27783	0.0:0.0:1.0:0.0	.	406	Q9H361	PABP3_HUMAN	T	406	ENSP00000281589:A406T	ENSP00000281589:A406T	A	+	1	0	PABPC3	24569552	1.000000	0.71417	0.974000	0.42286	0.615000	0.37417	6.589000	0.74080	0.759000	0.33084	0.313000	0.20887	GCT		0.532	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979	
PROSER1	80209	broad.mit.edu	37	13	39586362	39586362	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr13:39586362G>A	ENST00000352251.3	-	12	3403	c.2570C>T	c.(2569-2571)tCt>tTt	p.S857F	PROSER1_ENST00000350125.3_Missense_Mutation_p.S835F|PROSER1_ENST00000484434.3_Intron	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	857																	TTGAAGTCCAGATGATAAACT	0.383																																						uc001uwy.2																			0				ovary(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)	5						c.(2569-2571)TCT>TTT		hypothetical protein LOC80209 isoform 1							106.0	121.0	116.0					13																	39586362		2203	4300	6503	SO:0001583	missense	80209							g.chr13:39586362G>A	AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 23"""	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.2570C>T	13.37:g.39586362G>A	ENSP00000332034:p.Ser857Phe					C13orf23_uc001uwz.2_Missense_Mutation_p.S835F	p.S857F	NM_025138	NP_079414	Q86XN7	CM023_HUMAN		all cancers(112;3.7e-08)|Epithelial(112;4.28e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00114)|BRCA - Breast invasive adenocarcinoma(63;0.00366)|GBM - Glioblastoma multiforme(144;0.0146)	12	3443	-		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)	857					A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Missense_Mutation	SNP	ENST00000352251.3	37	c.2570C>T	CCDS9368.2	.	.	.	.	.	.	.	.	.	.	G	16.40	3.111512	0.56398	.	.	ENSG00000120685	ENST00000352251;ENST00000350125	T;T	0.45668	0.9;0.89	5.96	5.96	0.96718	.	.	.	.	.	T	0.41419	0.1158	N	0.19112	0.55	0.33563	D	0.597594	D;P	0.56968	0.978;0.892	P;P	0.54629	0.757;0.643	T	0.47129	-0.9141	8	.	.	.	-18.9663	13.5193	0.61559	0.0:0.1561:0.8439:0.0	.	835;857	A6NJ97;Q86XN7	.;PRSR1_HUMAN	F	857;835	ENSP00000332034:S857F;ENSP00000339123:S835F	.	S	-	2	0	PROSER1	38484362	1.000000	0.71417	0.868000	0.34077	0.356000	0.29392	5.485000	0.66850	2.821000	0.97095	0.650000	0.86243	TCT		0.383	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044607.5	NM_025138	
DIS3	22894	broad.mit.edu	37	13	73336102	73336102	+	Missense_Mutation	SNP	T	T	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr13:73336102T>A	ENST00000377767.4	-	17	2401	c.2301A>T	c.(2299-2301)ttA>ttT	p.L767F	DIS3_ENST00000377780.4_Missense_Mutation_p.L737F|DIS3_ENST00000545453.1_Missense_Mutation_p.L605F	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	767					CUT catabolic process (GO:0071034)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		TTGGAGACGCTAAGCCATAGT	0.328										Multiple Myeloma(4;0.011)																												uc001vix.3																			0				central_nervous_system(1)	1						c.(2299-2301)TTA>TTT		DIS3 mitotic control isoform a							94.0	90.0	91.0					13																	73336102		2203	4300	6503	SO:0001583	missense	22894				CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding	g.chr13:73336102T>A	AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"""exosome component 11"""	607533	"""KIAA1008"", ""DIS3 mitotic control homolog (S. cerevisiae)"""	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.2301A>T	13.37:g.73336102T>A	ENSP00000366997:p.Leu767Phe	Multiple Myeloma(4;0.011)				DIS3_uc001viy.3_Missense_Mutation_p.L737F|DIS3_uc001viz.2_RNA	p.L767F	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN		GBM - Glioblastoma multiforme(99;0.000181)	17	2675	-		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)	767					A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Missense_Mutation	SNP	ENST00000377767.4	37	c.2301A>T	CCDS9447.1	.	.	.	.	.	.	.	.	.	.	T	17.27	3.347093	0.61183	.	.	ENSG00000083520	ENST00000377767;ENST00000377780;ENST00000545453	T;T;T	0.71341	-0.56;-0.56;-0.56	5.68	3.24	0.37175	Ribonuclease II/R, conserved site (1);Ribonuclease II/R (2);	0.000000	0.85682	D	0.000000	D	0.90246	0.6950	H	0.99770	4.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90372	0.4381	10	0.87932	D	0	.	10.126	0.42649	0.0:0.1357:0.0:0.8643	.	737;767	Q9Y2L1-2;Q9Y2L1	.;RRP44_HUMAN	F	767;737;605	ENSP00000366997:L767F;ENSP00000367011:L737F;ENSP00000440058:L605F	ENSP00000366997:L767F	L	-	3	2	DIS3	72234103	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	1.646000	0.37249	0.428000	0.26173	-0.451000	0.05528	TTA		0.328	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045250.2	NM_014953	
GPR132	29933	broad.mit.edu	37	14	105518226	105518226	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr14:105518226C>T	ENST00000329797.3	-	4	1159	c.248G>A	c.(247-249)tGc>tAc	p.C83Y	GPR132_ENST00000539291.2_Missense_Mutation_p.C83Y|GPR132_ENST00000392585.2_Missense_Mutation_p.C74Y|GPR132_ENST00000546679.1_5'UTR	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	83					G1/S transition of mitotic cell cycle (GO:0000082)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		GAGTGCCAGGCAGAGCAGGTA	0.662																																						uc001yqd.2																			0				ovary(2)|central_nervous_system(1)	3						c.(247-249)TGC>TAC		G protein-coupled receptor 132							89.0	85.0	86.0					14																	105518226		2203	4300	6503	SO:0001583	missense	29933				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr14:105518226C>T	AF083955	CCDS9997.1, CCDS61567.1	14q32.3	2012-08-21			ENSG00000183484	ENSG00000183484		"""GPCR / Class A : Orphans"""	17482	protein-coding gene	gene with protein product	"""G2 accumulation"""	606167				12086852	Standard	NM_013345		Approved	G2A	uc001yqd.3	Q9UNW8	OTTHUMG00000140173	ENST00000329797.3:c.248G>A	14.37:g.105518226C>T	ENSP00000328818:p.Cys83Tyr					GPR132_uc001yqc.2_5'UTR|GPR132_uc001yqe.2_Missense_Mutation_p.C74Y	p.C83Y	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)	4	1147	-		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	83			Helical; Name=2; (Potential).		A8K7X7|B4E144|Q9BSU2	Missense_Mutation	SNP	ENST00000329797.3	37	c.248G>A	CCDS9997.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.984899	0.53934	.	.	ENSG00000183484	ENST00000329797;ENST00000392585;ENST00000539291	T;T;T	0.36520	1.25;1.25;1.25	4.83	3.88	0.44766	GPCR, rhodopsin-like superfamily (1);	0.384537	0.28011	N	0.016950	T	0.43322	0.1242	L	0.57536	1.79	0.34615	D	0.717984	P;P	0.49185	0.92;0.92	P;P	0.48952	0.472;0.596	T	0.62291	-0.6885	10	0.87932	D	0	.	12.9015	0.58128	0.1631:0.8369:0.0:0.0	.	74;83	B4E144;Q9UNW8	.;GP132_HUMAN	Y	83;74;83	ENSP00000328818:C83Y;ENSP00000376364:C74Y;ENSP00000438094:C83Y	ENSP00000328818:C83Y	C	-	2	0	GPR132	104589271	1.000000	0.71417	1.000000	0.80357	0.645000	0.38454	1.534000	0.36051	2.213000	0.71641	0.462000	0.41574	TGC		0.662	GPR132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409278.1	NM_013345	
RYR3	6263	broad.mit.edu	37	15	34047281	34047281	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr15:34047281G>A	ENST00000389232.4	+	58	8485	c.8415G>A	c.(8413-8415)atG>atA	p.M2805I	RYR3_ENST00000415757.3_Missense_Mutation_p.M2805I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2805	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGAAGGATATGGAGCTGGATG	0.458																																						uc001zhi.2																			0				ovary(5)|central_nervous_system(4)|lung(1)	10						c.(8413-8415)ATG>ATA		ryanodine receptor 3							104.0	108.0	107.0					15																	34047281		1946	4157	6103	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34047281G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.8415G>A	15.37:g.34047281G>A	ENSP00000373884:p.Met2805Ile					RYR3_uc010bar.2_Missense_Mutation_p.M2805I	p.M2805I	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	58	8485	+		all_lung(180;7.18e-09)	2805			4.|Cytoplasmic (By similarity).|4 X approximate repeats.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.8415G>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.924230	0.52653	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;D	0.96491	-0.19;-4.03	5.61	5.61	0.85477	.	0.217574	0.45126	D	0.000386	D	0.93485	0.7921	L	0.34521	1.04	0.54753	D	0.999988	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.002	D	0.88938	0.3378	10	0.25106	T	0.35	.	20.0044	0.97430	0.0:0.0:1.0:0.0	.	2805;2805	Q15413-2;Q15413	.;RYR3_HUMAN	I	2805	ENSP00000373884:M2805I;ENSP00000399610:M2805I	ENSP00000354735:M2805I	M	+	3	0	RYR3	31834573	1.000000	0.71417	0.997000	0.53966	0.650000	0.38633	7.828000	0.86729	2.809000	0.96659	0.555000	0.69702	ATG		0.458	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
BUB1B	701	broad.mit.edu	37	15	40512942	40512942	+	Silent	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr15:40512942G>A	ENST00000287598.6	+	23	3330	c.3135G>A	c.(3133-3135)ggG>ggA	p.G1045G	RP11-133K1.2_ENST00000558658.1_Intron|PAK6_ENST00000453867.1_Intron|BUB1B_ENST00000412359.3_Silent_p.G1059G|PAK6_ENST00000441369.1_Intron	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	1045	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		CTAGTCCTGGGGCTTTGCTCT	0.443			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																													uc001zkx.3			yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	Mis|N|F|S	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)			M		rhabdomyosarcoma			0				stomach(2)|ovary(1)|kidney(1)	4						c.(3133-3135)GGG>GGA		budding uninhibited by benzimidazoles 1 beta							91.0	87.0	88.0					15																	40512942		2203	4300	6503	SO:0001819	synonymous_variant	701	Mosaic_Variegated_Aneuploidy_Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40512942G>A	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"""budding uninhibited by benzimidazoles 1 (yeast homolog), beta"", ""budding uninhibited by benzimidazoles 1 homolog beta (yeast)"""			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.3135G>A	15.37:g.40512942G>A						PAK6_uc010bbl.2_Intron|PAK6_uc010bbm.2_Intron	p.G1045G	NM_001211	NP_001202	O60566	BUB1B_HUMAN		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)	23	3347	+		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	1045			Protein kinase.		B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Silent	SNP	ENST00000287598.6	37	c.3135G>A	CCDS10053.1																																																																																				0.443	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4		
ZNF280D	54816	broad.mit.edu	37	15	56993158	56993158	+	Frame_Shift_Del	DEL	A	A	-			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr15:56993158delA	ENST00000267807.7	-	6	570	c.354delT	c.(352-354)tctfs	p.S118fs	ZNF280D_ENST00000558320.1_Frame_Shift_Del_p.S118fs|ZNF280D_ENST00000396245.1_5'UTR|ZNF280D_ENST00000559000.1_Frame_Shift_Del_p.S105fs|ZNF280D_ENST00000559237.1_Frame_Shift_Del_p.S105fs	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	118					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		GAACAATAACAGAACTATCTG	0.393																																						uc002adu.2																			0				large_intestine(1)|ovary(1)|skin(1)	3						c.(352-354)TCTfs		suppressor of hairy wing homolog 4 isoform 1							101.0	92.0	95.0					15																	56993158		2192	4292	6484	SO:0001589	frameshift_variant	54816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:56993158delA	AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 4 (Drosophila)"""	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.354delT	15.37:g.56993158delA	ENSP00000267807:p.Ser118fs					ZNF280D_uc002adv.2_Frame_Shift_Del_p.S105fs|ZNF280D_uc010bfq.2_Frame_Shift_Del_p.S118fs|ZNF280D_uc002adw.1_Frame_Shift_Del_p.S146fs|ZNF280D_uc010bfr.1_RNA|ZNF280D_uc002ady.2_Frame_Shift_Del_p.S118fs|ZNF280D_uc002adx.2_Frame_Shift_Del_p.S118fs	p.S118fs	NM_017661	NP_060131	Q6N043	Z280D_HUMAN		all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)	6	571	-			118					A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Frame_Shift_Del	DEL	ENST00000267807.7	37	c.354delT	CCDS32245.1																																																																																				0.393	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418891.2	XM_370867	
ADAMTS7	11173	broad.mit.edu	37	15	79059831	79059831	+	Missense_Mutation	SNP	T	T	G			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr15:79059831T>G	ENST00000388820.4	-	18	2959	c.2749A>C	c.(2749-2751)Agc>Cgc	p.S917R	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	917	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TCCAGGGCGCTCTGCTCATCC	0.701																																						uc002bej.3																			0					0						c.(2749-2751)AGC>CGC		ADAM metallopeptidase with thrombospondin type 1							21.0	25.0	24.0					15																	79059831		2187	4287	6474	SO:0001583	missense	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79059831T>G	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.2749A>C	15.37:g.79059831T>G	ENSP00000373472:p.Ser917Arg					ADAMTS7_uc010und.1_Intron	p.S917R	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN			18	2960	-			917			TSP type-1 3.		Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	c.2749A>C	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	T	0.032	-1.330976	0.01298	.	.	ENSG00000136378	ENST00000388820	T	0.58940	0.3	4.59	0.715	0.18186	.	0.648787	0.15332	N	0.267974	T	0.21718	0.0523	N	0.01618	-0.8	0.22401	N	0.999133	B	0.06786	0.001	B	0.06405	0.002	T	0.27502	-1.0072	10	0.06757	T	0.87	.	6.8976	0.24265	0.0:0.0886:0.4811:0.4303	.	917	Q9UKP4	ATS7_HUMAN	R	917	ENSP00000373472:S917R	ENSP00000373472:S917R	S	-	1	0	ADAMTS7	76846886	0.741000	0.28217	0.494000	0.27515	0.196000	0.23810	0.547000	0.23299	-0.151000	0.11176	0.391000	0.25812	AGC		0.701	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272	
C16orf91	283951	broad.mit.edu	37	16	1478504	1478504	+	Silent	SNP	C	C	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr16:1478504C>T	ENST00000310355.1	-	2	146	c.147G>A	c.(145-147)gcG>gcA	p.A49A				Q4G0I0	CSMT1_HUMAN	chromosome 16 open reading frame 91	0						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						CTGCCGCCCGCGCCTTTCAGG	0.677																																						uc010uvd.1																			0					0						c.(145-147)GCG>GCA		hypothetical protein LOC283951							20.0	21.0	21.0					16																	1478504		2182	4287	6469	SO:0001819	synonymous_variant	283951					integral to membrane		g.chr16:1478504C>T	BC023590	CCDS61789.1	16p13.3	2012-10-10			ENSG00000174109	ENSG00000174109			27558	protein-coding gene	gene with protein product	"""cattle cerebrum and skeletal muscle-specific protein 1 family member"""						Standard	NM_001272051		Approved	gs103, CCSMST1	uc002clr.4	Q4G0I0		ENST00000310355.1:c.147G>A	16.37:g.1478504C>T							p.A49A	NM_001010878	NP_001010878	Q4G0I0	CSMT1_HUMAN			2	147	-			Error:Variant_position_missing_in_Q4G0I0_after_alignment					Q96RZ0	Silent	SNP	ENST00000310355.1	37	c.147G>A	CCDS32360.1																																																																																				0.677	C16orf91-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001010878	
CREBBP	1387	broad.mit.edu	37	16	3843446	3843446	+	Frame_Shift_Del	DEL	C	C	-	rs200933101		TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr16:3843446delC	ENST00000262367.5	-	4	1966	c.1157delG	c.(1156-1158)cgafs	p.R386fs	CREBBP_ENST00000382070.3_Frame_Shift_Del_p.R386fs	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	386	Interaction with SRCAP.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.T387fs*5(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TTTCATGGTTCGACAATGCGG	0.507			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															uc002cvv.2				Dom/Rec	yes		16	16p13.3	1387	T|N|F|Mis|O	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL 		1	Insertion - Frameshift(1)	p.R386*(1)	lung(1)	haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127						c.(1156-1158)CGAfs		CREB binding protein isoform a							149.0	131.0	137.0					16																	3843446		2197	4300	6497	SO:0001589	frameshift_variant	1387	Rubinstein-Taybi_syndrome			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3843446delC	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.1157delG	16.37:g.3843446delC	ENSP00000262367:p.Arg386fs					CREBBP_uc002cvw.2_Frame_Shift_Del_p.R386fs	p.R386fs	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	4	1361	-		Ovarian(90;0.0266)	386			TAZ-type 1.|Interaction with SRCAP.		D3DUC9|O00147|Q16376|Q4LE28	Frame_Shift_Del	DEL	ENST00000262367.5	37	c.1157delG	CCDS10509.1																																																																																				0.507	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380	
ABR	29	broad.mit.edu	37	17	953842	953842	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr17:953842C>T	ENST00000302538.5	-	15	1740	c.1594G>A	c.(1594-1596)Ggc>Agc	p.G532S	ABR_ENST00000574437.1_Missense_Mutation_p.G486S|ABR_ENST00000536794.2_Missense_Mutation_p.G314S|ABR_ENST00000544583.2_Missense_Mutation_p.G486S|ABR_ENST00000291107.2_Missense_Mutation_p.G495S	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	532	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		ACAAAATAGCCGAAGGAATCC	0.617																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)	uc002fsd.2																			0				upper_aerodigestive_tract(1)	1						c.(1594-1596)GGC>AGC		active breakpoint cluster region-related							109.0	96.0	100.0					17																	953842		2203	4300	6503	SO:0001583	missense	29				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr17:953842C>T	L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	81	protein-coding gene	gene with protein product		600365	"""active BCR-related gene"""			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.1594G>A	17.37:g.953842C>T	ENSP00000303909:p.Gly532Ser					ABR_uc002fse.2_Missense_Mutation_p.G486S|ABR_uc010vqg.1_Missense_Mutation_p.G314S|ABR_uc002fsg.2_Missense_Mutation_p.G495S|ABR_uc002fsh.1_Intron	p.G532S	NM_021962	NP_068781	Q12979	ABR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)	15	1704	-			532			C2.		B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Missense_Mutation	SNP	ENST00000302538.5	37	c.1594G>A	CCDS10999.1	.	.	.	.	.	.	.	.	.	.	C	33	5.202418	0.94997	.	.	ENSG00000159842	ENST00000302538;ENST00000544583;ENST00000291107;ENST00000536794	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	4.73	4.73	0.59995	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.057536	0.64402	D	0.000002	T	0.71143	0.3305	M	0.83953	2.67	0.58432	D	0.999998	D;D;D	0.89917	0.992;1.0;0.998	P;D;P	0.91635	0.816;0.999;0.879	T	0.74500	-0.3645	10	0.49607	T	0.09	.	16.8787	0.86058	0.0:1.0:0.0:0.0	.	314;495;532	B7Z683;Q12979-2;Q12979	.;.;ABR_HUMAN	S	532;486;495;314	ENSP00000303909:G532S;ENSP00000442048:G486S;ENSP00000291107:G495S;ENSP00000437429:G314S	ENSP00000291107:G495S	G	-	1	0	ABR	900592	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.598000	0.82745	2.449000	0.82847	0.561000	0.74099	GGC		0.617	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4		
SPACA3	124912	broad.mit.edu	37	17	31322643	31322643	+	Frame_Shift_Del	DEL	C	C	-			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr17:31322643delC	ENST00000269053.3	+	2	321	c.251delC	c.(250-252)tccfs	p.S85fs	SPACA3_ENST00000394638.1_Intron|SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000580599.1_Frame_Shift_Del_p.S16fs	NM_173847.3	NP_776246.1	Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	85					cell wall macromolecule catabolic process (GO:0016998)|defense response to Gram-positive bacterium (GO:0050830)|monocyte activation (GO:0042117)|peptidoglycan catabolic process (GO:0009253)|positive regulation of macrophage activation (GO:0043032)|positive regulation of phagocytosis (GO:0050766)|response to virus (GO:0009615)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|secretory granule (GO:0030141)	lysozyme activity (GO:0003796)			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			CTGCTACCCTCCAGTGAGGCC	0.607																																						uc002hhs.1																			0				ovary(2)	2						c.(250-252)TCCfs		sperm acrosome associated 3							105.0	71.0	82.0					17																	31322643		2203	4300	6503	SO:0001589	frameshift_variant	124912				cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding	g.chr17:31322643delC	AF216311, AF099029	CCDS11275.1	17q12	2014-07-23			ENSG00000141316	ENSG00000141316			16260	protein-coding gene	gene with protein product	"""cancer/testis antigen 54"", ""sperm lyzozyme-like acrosomal protein 1"""	612749				12606493	Standard	NM_173847		Approved	ALLP17, SLLP1, LYC3, LYZL3, CT54	uc002hhs.1	Q8IXA5	OTTHUMG00000132886	ENST00000269053.3:c.251delC	17.37:g.31322643delC	ENSP00000269053:p.Ser85fs					SPACA3_uc010cte.1_RNA	p.S84fs	NM_173847	NP_776246	Q8IXA5	SACA3_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)		2	326	+			84			Helical; Signal-anchor for type II membrane protein; (Potential).		Q7Z4Y5	Frame_Shift_Del	DEL	ENST00000269053.3	37	c.251delC	CCDS11275.1																																																																																				0.607	SPACA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256380.1	NM_173847	
SLC35G3	146861	broad.mit.edu	37	17	33521251	33521251	+	Missense_Mutation	SNP	G	G	A	rs553697473		TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr17:33521251G>A	ENST00000297307.5	-	1	161	c.76C>T	c.(76-78)Cgc>Tgc	p.R26C	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	26						integral component of membrane (GO:0016021)											TGGTACCAGCGGAGGCTGGGT	0.657													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15749	0.0		0.0	False		,,,				2504	0.0					uc002hjd.2																			0					0						c.(76-78)CGC>TGC		acyl-malonyl condensing enzyme 1							54.0	57.0	56.0					17																	33521251		2203	4299	6502	SO:0001583	missense	146861					integral to membrane		g.chr17:33521251G>A	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.76C>T	17.37:g.33521251G>A	ENSP00000297307:p.Arg26Cys						p.R26C	NM_152462	NP_689675	Q8N808	AMAC1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0917)	1	162	-			26					B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	c.76C>T	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	G	8.015	0.758388	0.15846	.	.	ENSG00000164729	ENST00000297307	T	0.27256	1.68	.	.	.	.	0.699485	0.12196	N	0.490734	T	0.09468	0.0233	N	0.08118	0	0.28027	N	0.934293	P	0.40931	0.733	B	0.31547	0.132	T	0.16364	-1.0405	8	0.54805	T	0.06	0.0119	.	.	.	.	26	Q8N808	S35G3_HUMAN	C	26	ENSP00000297307:R26C	ENSP00000297307:R26C	R	-	1	0	SLC35G3	30545364	0.777000	0.28628	0.292000	0.24919	0.295000	0.27426	2.201000	0.42734	0.064000	0.16427	0.064000	0.15345	CGC		0.657	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462	
GSDMA	284110	broad.mit.edu	37	17	38122551	38122551	+	Silent	SNP	C	C	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr17:38122551C>T	ENST00000301659.4	+	3	371	c.253C>T	c.(253-255)Ctg>Ttg	p.L85L		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	85					apoptotic process (GO:0006915)	perinuclear region of cytoplasm (GO:0048471)				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						TAAGAATATGCTGGACACCCG	0.537																																						uc002htl.1																			0					0						c.(253-255)CTG>TTG		gasdermin 1							92.0	92.0	92.0					17																	38122551		1957	4139	6096	SO:0001819	synonymous_variant	284110				apoptosis|induction of apoptosis	perinuclear region of cytoplasm		g.chr17:38122551C>T	AB093591	CCDS45669.1	17q21.2	2008-07-31	2008-07-31	2008-07-31		ENSG00000167914			13311	protein-coding gene	gene with protein product		611218	"""gasdermin"", ""gasdermin 1"""	GSDM, GSDM1		12883658, 15010812, 17350798	Standard	NM_178171		Approved	FLJ39120	uc002htl.1	Q96QA5		ENST00000301659.4:c.253C>T	17.37:g.38122551C>T						GSDMA_uc002htm.1_Silent_p.L85L	p.L85L	NM_178171	NP_835465	Q96QA5	GSDMA_HUMAN			3	371	+			85					Q32MC5|Q86VE7|Q8N1M6	Silent	SNP	ENST00000301659.4	37	c.253C>T	CCDS45669.1																																																																																				0.537	GSDMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446847.1	NM_178171	
KRT15	3866	broad.mit.edu	37	17	39673185	39673185	+	Missense_Mutation	SNP	C	C	T	rs138271368	byFrequency	TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr17:39673185C>T	ENST00000254043.3	-	3	4198	c.613G>A	c.(613-615)Gtt>Att	p.V205I	KRT15_ENST00000393974.3_Missense_Mutation_p.V40I|KRT15_ENST00000393976.2_Missense_Mutation_p.V205I|KRT15_ENST00000393981.3_Missense_Mutation_p.V40I	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	205	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)	p.V205I(3)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				TCAGCCTCAACGCCCTGGCGC	0.612													C|||	2	0.000399361	0.0	0.0014	5008	,	,		19121	0.001		0.0	False		,,,				2504	0.0					uc002hwy.2																			3	Substitution - Missense(3)		prostate(1)|kidney(1)|central_nervous_system(1)		0						c.(613-615)GTT>ATT		keratin 15		C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	75.0	75.0	75.0		613	2.7	1.0	17	dbSNP_134	75	0,8600		0,0,4300	yes	missense	KRT15	NM_002275.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	205/457	39673185	1,13005	2203	4300	6503	SO:0001583	missense	3866				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39673185C>T		CCDS11398.1	17q21.2	2013-06-20			ENSG00000171346	ENSG00000171346		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6421	protein-coding gene	gene with protein product	"""keratin-15, basic"", ""keratin-15, beta"", ""type I cytoskeletal 15"", ""cytokeratin 15"""	148030				16831889	Standard	NM_002275		Approved	K15, CK15, K1CO	uc002hwy.3	P19012	OTTHUMG00000133435	ENST00000254043.3:c.613G>A	17.37:g.39673185C>T	ENSP00000254043:p.Val205Ile					KRT15_uc002hwz.2_Missense_Mutation_p.V107I|KRT15_uc002hxa.2_Missense_Mutation_p.V40I|KRT15_uc002hxb.1_Missense_Mutation_p.V40I	p.V205I	NM_002275	NP_002266	P19012	K1C15_HUMAN			3	804	-		Breast(137;0.000286)	205			Rod.|Coil 1B.		B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	Missense_Mutation	SNP	ENST00000254043.3	37	c.613G>A	CCDS11398.1	6	0.0027472527472527475	1	0.0020325203252032522	1	0.0027624309392265192	3	0.005244755244755245	1	0.0013192612137203166	C	18.69	3.678865	0.68042	2.27E-4	0.0	ENSG00000171346	ENST00000254043;ENST00000393974;ENST00000393976;ENST00000393981;ENST00000458290	D;D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54;-2.54	4.86	2.74	0.32292	Filament (1);	0.000000	0.41823	D	0.000804	D	0.93288	0.7861	M	0.93150	3.385	0.47037	D	0.99929	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.997	D	0.93234	0.6620	10	0.87932	D	0	.	10.0097	0.41979	0.1362:0.7907:0.0:0.0731	.	40;205;205	A8MT21;B3KVF5;P19012	.;.;K1C15_HUMAN	I	205;40;205;40;40	ENSP00000254043:V205I;ENSP00000377544:V40I;ENSP00000377546:V205I;ENSP00000377550:V40I;ENSP00000409282:V40I	ENSP00000254043:V205I	V	-	1	0	KRT15	36926711	1.000000	0.71417	0.999000	0.59377	0.185000	0.23345	4.807000	0.62576	1.254000	0.44035	0.650000	0.86243	GTT		0.612	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257301.1	NM_002275	
ARSG	22901	broad.mit.edu	37	17	66391258	66391258	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr17:66391258G>A	ENST00000448504.2	+	10	1932	c.1136G>A	c.(1135-1137)aGc>aAc	p.S379N	ARSG_ENST00000582154.1_3'UTR|ARSG_ENST00000452479.2_Missense_Mutation_p.S215N	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	379					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sulfur compound metabolic process (GO:0006790)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			GCCCAGGCCAGCTTACCTCAA	0.587																																						uc002jhc.2																			0				ovary(1)	1						c.(1135-1137)AGC>AAC		Arylsulfatase G precursor							165.0	126.0	139.0					17																	66391258		2203	4300	6503	SO:0001583	missense	22901				sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding	g.chr17:66391258G>A	AB023218	CCDS11676.1	17q24.2	2013-07-15	2006-02-15		ENSG00000141337	ENSG00000141337		"""Arylsulfatase family"""	24102	protein-coding gene	gene with protein product		610008				12461688, 16174644	Standard	NM_014960		Approved	KIAA1001	uc002jhc.2	Q96EG1	OTTHUMG00000179810	ENST00000448504.2:c.1136G>A	17.37:g.66391258G>A	ENSP00000407193:p.Ser379Asn					ARSG_uc002jhb.1_Missense_Mutation_p.S215N	p.S379N	NM_014960	NP_055775	Q96EG1	ARSG_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)		10	1932	+			379					Q6UXF2|Q9Y2K4	Missense_Mutation	SNP	ENST00000448504.2	37	c.1136G>A	CCDS11676.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.505703	0.26949	.	.	ENSG00000141337	ENST00000452479;ENST00000448504	D	0.98567	-5.0	5.25	4.27	0.50696	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.427924	0.26923	N	0.021818	D	0.96034	0.8708	L	0.46741	1.465	0.29118	N	0.880447	B	0.20459	0.045	B	0.23018	0.043	D	0.92464	0.5980	10	0.38643	T	0.18	.	11.7557	0.51874	0.0:0.1768:0.8232:0.0	.	379	Q96EG1	ARSG_HUMAN	N	379;278	ENSP00000407193:S278N	ENSP00000407193:S278N	S	+	2	0	ARSG	63902853	0.013000	0.17824	0.999000	0.59377	0.362000	0.29581	0.446000	0.21694	1.430000	0.47334	0.555000	0.69702	AGC		0.587	ARSG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448369.1	NM_014960	
NEDD4L	23327	broad.mit.edu	37	18	56010160	56010160	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr18:56010160G>A	ENST00000400345.3	+	16	1683	c.1400G>A	c.(1399-1401)cGt>cAt	p.R467H	NEDD4L_ENST00000586263.1_Missense_Mutation_p.R439H|NEDD4L_ENST00000256830.9_Missense_Mutation_p.R363H|NEDD4L_ENST00000382850.4_Missense_Mutation_p.R447H|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000456173.2_Missense_Mutation_p.R326H|NEDD4L_ENST00000456986.1_Missense_Mutation_p.R346H|NEDD4L_ENST00000256832.7_Missense_Mutation_p.R326H|NEDD4L_ENST00000356462.6_Missense_Mutation_p.R403H|NEDD4L_ENST00000431212.2_Missense_Mutation_p.R346H|NEDD4L_ENST00000435432.2_Missense_Mutation_p.R326H|NEDD4L_ENST00000357895.5_Missense_Mutation_p.R459H	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	467					cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						TCACCCGTACGTCGGGCTGTG	0.488																																						uc002lgy.2																			0				lung(4)	4						c.(1399-1401)CGT>CAT		neural precursor cell expressed, developmentally							63.0	68.0	67.0					18																	56010160		1976	4152	6128	SO:0001583	missense	23327				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity	g.chr18:56010160G>A	AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"""neural precursor cell expressed, developmentally down-regulated 4-like"""			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.1400G>A	18.37:g.56010160G>A	ENSP00000383199:p.Arg467His					NEDD4L_uc002lgz.2_Missense_Mutation_p.R403H|NEDD4L_uc002lgx.2_Missense_Mutation_p.R447H|NEDD4L_uc010xee.1_Missense_Mutation_p.R346H|NEDD4L_uc002lhc.2_Missense_Mutation_p.R459H|NEDD4L_uc002lhd.2_Missense_Mutation_p.R346H|NEDD4L_uc002lhb.2_Missense_Mutation_p.R326H|NEDD4L_uc002lhe.2_Missense_Mutation_p.R439H|NEDD4L_uc002lhf.2_Missense_Mutation_p.R326H|NEDD4L_uc002lhg.2_Missense_Mutation_p.R346H|NEDD4L_uc002lhh.2_Missense_Mutation_p.R242H|NEDD4L_uc010dpm.1_Intron	p.R467H	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN			16	1674	+			467					O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Missense_Mutation	SNP	ENST00000400345.3	37	c.1400G>A	CCDS45872.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.553343	0.86127	.	.	ENSG00000049759	ENST00000400345;ENST00000382850;ENST00000356462;ENST00000256830;ENST00000256832;ENST00000456986;ENST00000357895;ENST00000435432;ENST00000456173;ENST00000431212	T;T;T;T;T;T;T;T;T;T	0.35236	1.39;1.39;1.37;1.32;1.9;1.9;1.8;1.9;1.9;1.9	6.17	6.17	0.99709	.	1.550610	0.03421	N	0.206374	T	0.48960	0.1529	L	0.27053	0.805	0.80722	D	1	D;D;D;D;D;D	0.71674	0.996;0.996;0.998;0.994;0.996;0.996	P;P;P;P;P;P	0.56088	0.729;0.738;0.791;0.754;0.572;0.738	T	0.51356	-0.8716	10	0.13853	T	0.58	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	439;459;326;403;467;447	Q96PU5-6;Q96PU5-7;Q3LSM7;Q96PU5-2;Q96PU5;Q96PU5-5	.;.;.;.;NED4L_HUMAN;.	H	467;447;403;363;326;346;459;326;326;346	ENSP00000383199:R467H;ENSP00000372301:R447H;ENSP00000348847:R403H;ENSP00000256830:R363H;ENSP00000256832:R326H;ENSP00000411947:R346H;ENSP00000350569:R459H;ENSP00000393395:R326H;ENSP00000405440:R326H;ENSP00000389406:R346H	ENSP00000256830:R363H	R	+	2	0	NEDD4L	54161140	1.000000	0.71417	0.972000	0.41901	0.977000	0.68977	7.398000	0.79919	2.941000	0.99782	0.655000	0.94253	CGT		0.488	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1		
HMG20B	10362	broad.mit.edu	37	19	3578077	3578077	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr19:3578077G>A	ENST00000333651.6	+	9	982	c.907G>A	c.(907-909)Gtc>Atc	p.V303I		NM_006339.2	NP_006330.2	Q9P0W2	HM20B_HUMAN	high mobility group 20B	303					blood coagulation (GO:0007596)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of protein sumoylation (GO:0033234)|positive regulation of neuron differentiation (GO:0045666)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAGCTCATCGTCCGCATCAA	0.701																																						uc002lya.2																			0					0						c.(907-909)GTC>ATC		high-mobility group 20B							24.0	29.0	28.0					19																	3578077		1972	4105	6077	SO:0001583	missense	10362				blood coagulation|cell cycle|chromatin modification	chromosome|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:3578077G>A	BC003505	CCDS45919.1	19p13.3	2011-07-01	2011-04-05		ENSG00000064961	ENSG00000064961		"""High mobility group / Non-canonical"""	5002	protein-coding gene	gene with protein product	"""HMG box domain containing 2"""	605535	"""high-mobility group 20B"""			10773667	Standard	NM_006339		Approved	SOXL, HMGX2, BRAF35, SMARCE1r, BRAF25, HMGXB2	uc002lya.3	Q9P0W2	OTTHUMG00000150437	ENST00000333651.6:c.907G>A	19.37:g.3578077G>A	ENSP00000328269:p.Val303Ile					HMG20B_uc002lyb.2_Missense_Mutation_p.V201I	p.V303I	NM_006339	NP_006330	Q9P0W2	HM20B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)	9	975	+		Hepatocellular(1079;0.137)	303					A6NMS5|D6W616|Q6IBP8|Q8NBD5|Q9HD21|Q9Y491|Q9Y4A2	Missense_Mutation	SNP	ENST00000333651.6	37	c.907G>A	CCDS45919.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	13.38|13.38	2.219168|2.219168	0.39201|0.39201	.|.	.|.	ENSG00000064961|ENSG00000064961	ENST00000402569|ENST00000333651	.|T	.|0.67345	.|-0.26	4.38|4.38	0.687|0.687	0.18020|0.18020	.|.	.|21.256400	.|0.00520	.|N	.|0.000182	T|T	0.51517|0.51517	0.1679|0.1679	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	0.999997|0.999997	.|B	.|0.06786	.|0.001	.|B	.|0.04013	.|0.001	T|T	0.31696|0.31696	-0.9934|-0.9934	6|10	0.87932|0.30854	D|T	0|0.27	-10.0981|-10.0981	6.3829|6.3829	0.21544|0.21544	0.177:0.4317:0.3913:0.0|0.177:0.4317:0.3913:0.0	.|.	.|303	.|Q9P0W2	.|HM20B_HUMAN	H|I	132|303	.|ENSP00000328269:V303I	ENSP00000385987:R132H|ENSP00000328269:V303I	R|V	+|+	2|1	0|0	HMG20B|HMG20B	3529077|3529077	0.907000|0.907000	0.30839|0.30839	0.687000|0.687000	0.30102|0.30102	0.943000|0.943000	0.58893|0.58893	1.444000|1.444000	0.35068|0.35068	0.290000|0.290000	0.22444|0.22444	-0.436000|-0.436000	0.05848|0.05848	CGT|GTC		0.701	HMG20B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318088.1	NM_006339	
SAFB	6294	broad.mit.edu	37	19	5668177	5668177	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr19:5668177G>A	ENST00000292123.5	+	21	2730	c.2623G>A	c.(2623-2625)Ggc>Agc	p.G875S	SAFB_ENST00000433404.1_Missense_Mutation_p.G707S|SAFB_ENST00000588852.1_Missense_Mutation_p.G877S|SAFB_ENST00000592224.1_Missense_Mutation_p.G876S|SAFB_ENST00000454510.1_Missense_Mutation_p.G808S|SAFB_ENST00000538656.1_Missense_Mutation_p.G719S	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	875	Gly-rich.|Interaction with SAFB2.				chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		TCCTAGGCGCGGCAGCTTTGC	0.677																																					Colon(88;338 1345 6184 8214 20897)	uc002mcf.2																			0				ovary(1)|liver(1)|skin(1)	3						c.(2623-2625)GGC>AGC		scaffold attachment factor B							45.0	55.0	52.0					19																	5668177		2202	4300	6502	SO:0001583	missense	6294				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5668177G>A	L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"""RNA binding motif (RRM) containing"""	10520	protein-coding gene	gene with protein product	"""Hsp27 ERE-TATA binding protein"""	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.2623G>A	19.37:g.5668177G>A	ENSP00000292123:p.Gly875Ser					SAFB_uc002mcg.2_Missense_Mutation_p.G877S|SAFB_uc002mce.3_Missense_Mutation_p.G876S|SAFB_uc010xir.1_Missense_Mutation_p.G874S|SAFB_uc010xis.1_Missense_Mutation_p.G808S|SAFB_uc010xit.1_Missense_Mutation_p.G719S|SAFB_uc010xiu.1_Missense_Mutation_p.G676S	p.G875S	NM_002967	NP_002958	Q15424	SAFB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)	21	2676	+			875			Interaction with SAFB2.|Gly-rich.		A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Missense_Mutation	SNP	ENST00000292123.5	37	c.2623G>A	CCDS12142.1	.	.	.	.	.	.	.	.	.	.	G	19.63	3.862968	0.71949	.	.	ENSG00000160633	ENST00000454510;ENST00000540206;ENST00000433404;ENST00000292123;ENST00000538656	T;T;T;T	0.15139	2.69;2.75;2.45;2.62	5.04	5.04	0.67666	.	0.000000	0.47455	D	0.000238	T	0.38931	0.1059	M	0.75777	2.31	0.48632	D	0.999682	D;D;D;D;D;D;D	0.89917	0.977;1.0;0.995;0.977;0.977;0.977;0.977	P;P;P;P;P;P;P	0.58970	0.532;0.849;0.723;0.532;0.532;0.532;0.532	T	0.27571	-1.0070	10	0.72032	D	0.01	-26.3328	16.5343	0.84369	0.0:0.0:1.0:0.0	.	676;719;808;874;877;875;876	B7Z1C7;B7Z2F6;F5H0H3;B7ZLP5;A0AV56;Q15424;B7ZLP6	.;.;.;.;.;SAFB1_HUMAN;.	S	808;772;707;875;719	ENSP00000415895:G808S;ENSP00000404545:G707S;ENSP00000292123:G875S;ENSP00000438880:G719S	ENSP00000292123:G875S	G	+	1	0	SAFB	5619177	1.000000	0.71417	0.954000	0.39281	0.833000	0.47200	6.155000	0.71833	2.500000	0.84329	0.491000	0.48974	GGC		0.677	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451641.2		
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T	rs201682072		TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393																																						uc002qqo.2																			10	Substitution - Missense(10)		urinary_tract(3)|kidney(3)|prostate(2)|NS(1)|skin(1)		0						c.(1210-1212)GAC>GAA		zinc finger protein 814							117.0	93.0	100.0					19																	58385546		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385546G>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1212C>A	19.37:g.58385546G>T	ENSP00000410545:p.Asp404Glu					ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron	p.D404E	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN			3	1484	-			404					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1212C>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.545823	0.27652	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.14640	2.49	2.33	-4.66	0.03329	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.03177	-0.4	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.33574	-0.9863	9	0.54805	T	0.06	.	1.2175	0.01917	0.3897:0.3041:0.1331:0.1731	.	404	B7Z6K7	ZN814_HUMAN	E	404;266	ENSP00000410545:D404E	ENSP00000365378:D266E	D	-	3	2	ZNF814	63077358	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.489000	0.02306	-2.531000	0.00491	-1.292000	0.01352	GAC		0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708	
SPTBN1	6711	broad.mit.edu	37	2	54852086	54852086	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr2:54852086G>A	ENST00000356805.4	+	11	1609	c.1328G>A	c.(1327-1329)cGt>cAt	p.R443H	SPTBN1_ENST00000333896.5_Missense_Mutation_p.R430H	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	443					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GAAAACCAGCGTCTGGTGTCT	0.507																																						uc002rxu.2																			0				ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8						c.(1327-1329)CGT>CAT		spectrin, beta, non-erythrocytic 1 isoform 1							70.0	72.0	71.0					2																	54852086		2203	4300	6503	SO:0001583	missense	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54852086G>A		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.1328G>A	2.37:g.54852086G>A	ENSP00000349259:p.Arg443His					SPTBN1_uc002rxv.1_Missense_Mutation_p.R443H|SPTBN1_uc002rxx.2_Missense_Mutation_p.R430H	p.R443H	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Lung(47;0.24)		11	1577	+			443			Spectrin 2.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.1328G>A	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	G	36	5.613389	0.96637	.	.	ENSG00000115306	ENST00000356805;ENST00000389980;ENST00000333896	T;T;T	0.51574	0.7;0.7;0.7	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.65302	0.2678	M	0.71206	2.165	0.80722	D	1	P;D	0.56746	0.926;0.977	P;P	0.56398	0.448;0.797	T	0.67193	-0.5732	10	0.62326	D	0.03	.	19.6936	0.96012	0.0:0.0:1.0:0.0	.	430;443	Q01082-3;Q01082	.;SPTB2_HUMAN	H	443;443;430	ENSP00000349259:R443H;ENSP00000374630:R443H;ENSP00000334156:R430H	ENSP00000334156:R430H	R	+	2	0	SPTBN1	54705590	1.000000	0.71417	0.989000	0.46669	0.996000	0.88848	9.807000	0.99171	2.665000	0.90641	0.655000	0.94253	CGT		0.507	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3		
BCL11A	53335	broad.mit.edu	37	2	60688379	60688379	+	Missense_Mutation	SNP	C	C	G			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr2:60688379C>G	ENST00000335712.6	-	4	1895	c.1668G>C	c.(1666-1668)caG>caC	p.Q556H	BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000356842.4_Missense_Mutation_p.Q556H|BCL11A_ENST00000537768.1_Missense_Mutation_p.Q225H|BCL11A_ENST00000358510.4_Missense_Mutation_p.Q522H|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000538214.1_Missense_Mutation_p.Q522H	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	556					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)			CGCTGAAGTGCTGCATGGAGC	0.697			T	IGH@	B-CLL																																	uc002sae.1				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.(1666-1668)CAG>CAC		B-cell CLL/lymphoma 11A isoform 1							24.0	24.0	24.0					2																	60688379		2199	4291	6490	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.chr2:60688379C>G	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	ENST00000335712.6:c.1668G>C	2.37:g.60688379C>G	ENSP00000338774:p.Gln556His					BCL11A_uc002sab.2_Missense_Mutation_p.Q556H|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Missense_Mutation_p.Q225H|BCL11A_uc010ypj.1_Missense_Mutation_p.Q522H|BCL11A_uc002sad.1_Missense_Mutation_p.Q404H|BCL11A_uc002saf.1_Missense_Mutation_p.Q522H	p.Q556H	NM_022893	NP_075044	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)		4	1896	-			556					D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	c.1668G>C	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	C	8.516	0.867739	0.17250	.	.	ENSG00000119866	ENST00000356842;ENST00000378117;ENST00000538214;ENST00000537768;ENST00000335712;ENST00000358510	T;T;T;T;T	0.09163	3.01;3.29;3.16;3.32;3.23	5.69	5.69	0.88448	.	0.198852	0.34628	N	0.003804	T	0.09642	0.0237	N	0.25485	0.75	0.58432	D	0.999996	B;B;B;B;B	0.14805	0.009;0.001;0.0;0.0;0.011	B;B;B;B;B	0.14023	0.009;0.001;0.002;0.0;0.01	T	0.10730	-1.0617	10	0.46703	T	0.11	-3.0658	14.2812	0.66213	0.1488:0.8512:0.0:0.0	.	522;225;522;556;556	F5H2Y4;B4DT16;Q9H165-6;Q9H165;D9YZV9	.;.;.;BC11A_HUMAN;.	H	556;581;522;225;556;522	ENSP00000349300:Q556H;ENSP00000438303:Q522H;ENSP00000443712:Q225H;ENSP00000338774:Q556H;ENSP00000351307:Q522H	ENSP00000338774:Q556H	Q	-	3	2	BCL11A	60541883	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.864000	0.56024	2.690000	0.91761	0.555000	0.69702	CAG		0.697	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893	
SLC9A4	389015	broad.mit.edu	37	2	103095487	103095487	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr2:103095487G>A	ENST00000295269.4	+	2	903	c.446G>A	c.(445-447)cGg>cAg	p.R149Q		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	149					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						ATGCCCACCCGGCCCTTCTTT	0.597																																						uc002tbz.3																			0				skin(2)|central_nervous_system(1)	3						c.(445-447)CGG>CAG		solute carrier family 9 (sodium/hydrogen							61.0	57.0	58.0					2																	103095487		2203	4300	6503	SO:0001583	missense	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103095487G>A		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.446G>A	2.37:g.103095487G>A	ENSP00000295269:p.Arg149Gln						p.R149Q	NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN			2	903	+			149			Cytoplasmic (Potential).		Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	37	c.446G>A	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	G	37	5.998437	0.97184	.	.	ENSG00000180251	ENST00000295269	T	0.18016	2.24	5.74	5.74	0.90152	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.45316	0.1336	M	0.88105	2.93	0.54753	D	0.999988	D	0.65815	0.995	P	0.55011	0.766	T	0.53429	-0.8440	10	0.72032	D	0.01	.	19.9197	0.97082	0.0:0.0:1.0:0.0	.	149	Q6AI14	SL9A4_HUMAN	Q	149	ENSP00000295269:R149Q	ENSP00000295269:R149Q	R	+	2	0	SLC9A4	102461919	1.000000	0.71417	0.768000	0.31515	0.984000	0.73092	7.883000	0.87264	2.702000	0.92279	0.655000	0.94253	CGG		0.597	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3	
IL1B	3553	broad.mit.edu	37	2	113588108	113588108	+	Nonsense_Mutation	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr2:113588108G>A	ENST00000263341.2	-	7	850	c.640C>T	c.(640-642)Cga>Tga	p.R214*	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	214					activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|cellular response to drug (GO:0035690)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to organic substance (GO:0071310)|cytokine-mediated signaling pathway (GO:0019221)|ectopic germ cell programmed cell death (GO:0035234)|embryo implantation (GO:0007566)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fever generation (GO:0001660)|hyaluronan biosynthetic process (GO:0030213)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-1 beta production (GO:0032611)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|monocyte aggregation (GO:0070487)|negative regulation of adiponectin secretion (GO:0070164)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of MAP kinase activity (GO:0043407)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of cell adhesion molecule production (GO:0060355)|positive regulation of cell division (GO:0051781)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of fever generation (GO:0031622)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mitosis (GO:0045840)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of myosin light chain kinase activity (GO:0035505)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell mediated immunity (GO:0002711)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein kinase B signaling (GO:0043491)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of insulin secretion (GO:0050796)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|sequestering of triglyceride (GO:0030730)|signal transduction (GO:0007165)|smooth muscle adaptation (GO:0014805)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	cytokine activity (GO:0005125)|interleukin-1 receptor binding (GO:0005149)|protein domain specific binding (GO:0019904)			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Canakinumab(DB06168)|Gallium nitrate(DB05260)|Minocycline(DB01017)|Rilonacept(DB06372)	AAGACAAATCGCTTTTCCATC	0.423																																						uc002tii.1																			0				lung(3)|breast(1)	4						c.(640-642)CGA>TGA		interleukin 1, beta proprotein	Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)						191.0	185.0	187.0					2																	113588108		2203	4300	6503	SO:0001587	stop_gained	3553				activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding	g.chr2:113588108G>A	M15330	CCDS2102.1	2q14	2014-01-30			ENSG00000125538	ENSG00000125538		"""Interleukins and interleukin receptors"", ""Endogenous ligands"""	5992	protein-coding gene	gene with protein product		147720				2954882, 2989698	Standard	NM_000576		Approved	IL1F2, IL-1B, IL1-BETA	uc002tii.1	P01584	OTTHUMG00000131344	ENST00000263341.2:c.640C>T	2.37:g.113588108G>A	ENSP00000263341:p.Arg214*					IL1B_uc002tih.1_Nonsense_Mutation_p.R183*	p.R214*	NM_000576	NP_000567	P01584	IL1B_HUMAN			7	727	-			214					Q53X59|Q53XX2|Q7M4S7|Q7RU01|Q96HE5|Q9UCT6	Nonsense_Mutation	SNP	ENST00000263341.2	37	c.640C>T	CCDS2102.1	.	.	.	.	.	.	.	.	.	.	G	37	6.234989	0.97399	.	.	ENSG00000125538	ENST00000263341	.	.	.	5.39	4.5	0.54988	.	0.059451	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.9562	11.2899	0.49244	0.0:0.0:0.8182:0.1818	.	.	.	.	X	214	.	ENSP00000263341:R214X	R	-	1	2	IL1B	113304579	0.863000	0.29885	0.944000	0.38274	0.999000	0.98932	0.985000	0.29578	1.492000	0.48499	0.650000	0.86243	CGA		0.423	IL1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254125.2	NM_000576	
TUBA4A	7277	broad.mit.edu	37	2	220116339	220116339	+	Missense_Mutation	SNP	T	T	C			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr2:220116339T>C	ENST00000248437.4	-	3	496	c.323A>G	c.(322-324)tAt>tGt	p.Y108C	TUBA4A_ENST00000498660.1_5'UTR|TUBA4B_ENST00000490341.1_RNA|TUBA4A_ENST00000392088.2_Missense_Mutation_p.Y93C	NM_006000.2	NP_005991.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	108					'de novo' posttranslational protein folding (GO:0051084)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Cabazitaxel(DB06772)|Podofilox(DB01179)|Vincristine(DB00541)	GCCAATGGTATAGTGACCACG	0.532																																						uc002vkt.1																			0				ovary(3)	3						c.(322-324)TAT>TGT		tubulin, alpha 4a							128.0	110.0	116.0					2																	220116339		2203	4300	6503	SO:0001583	missense	7277				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:220116339T>C	AK054731	CCDS2438.1, CCDS63131.1	2q36.1	2012-10-02	2007-02-12	2007-02-12	ENSG00000127824	ENSG00000127824		"""Tubulins"""	12407	protein-coding gene	gene with protein product		191110	"""tubulin, alpha 1 (testis specific)"", ""tubulin, alpha 1"""	TUBA1		3785200	Standard	NM_006000		Approved	FLJ30169, H2-ALPHA	uc002vkt.1	P68366	OTTHUMG00000133126	ENST00000248437.4:c.323A>G	2.37:g.220116339T>C	ENSP00000248437:p.Tyr108Cys					TUBA4A_uc010zkz.1_Missense_Mutation_p.Y93C|TUBA4B_uc002vku.2_5'Flank|TUBA4B_uc002vkv.1_5'Flank	p.Y108C	NM_006000	NP_005991	P68366	TBA4A_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	381	-		Renal(207;0.0474)	108					A8MUB1|B3KNQ6|P05215	Missense_Mutation	SNP	ENST00000248437.4	37	c.323A>G	CCDS2438.1	.	.	.	.	.	.	.	.	.	.	T	17.74	3.463439	0.63513	.	.	ENSG00000127824	ENST00000248437;ENST00000392088;ENST00000427737;ENST00000456818;ENST00000447205;ENST00000425551	T;T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58;-0.58	5.06	5.06	0.68205	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.64402	D	0.000001	D	0.87079	0.6088	H	0.96916	3.905	0.80722	D	1	P	0.37781	0.608	P	0.51193	0.662	D	0.90417	0.4414	10	0.87932	D	0	.	14.9812	0.71313	0.0:0.0:0.0:1.0	.	108	P68366	TBA4A_HUMAN	C	108;93;93;131;93;110	ENSP00000248437:Y108C;ENSP00000375938:Y93C;ENSP00000408194:Y93C;ENSP00000416992:Y131C;ENSP00000396061:Y93C;ENSP00000404740:Y110C	ENSP00000248437:Y108C	Y	-	2	0	TUBA4A	219824583	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.779000	0.85648	2.132000	0.65825	0.533000	0.62120	TAT		0.532	TUBA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256816.3	NM_006000	
DES	1674	broad.mit.edu	37	2	220286104	220286104	+	Missense_Mutation	SNP	T	T	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr2:220286104T>A	ENST00000373960.3	+	6	1152	c.1066T>A	c.(1066-1068)Ttt>Att	p.F356I		NM_001927.3	NP_001918.3	P17661	DESM_HUMAN	desmin	356	Coil 2B.|Rod.				cytoskeleton organization (GO:0007010)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart contraction (GO:0008016)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intermediate filament (GO:0005882)|neuromuscular junction (GO:0031594)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)	p.F356I(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		GGAGGACCGATTTGCCAGTGA	0.587																																						uc002vll.2																			1	Substitution - Missense(1)	p.F356I(1)	central_nervous_system(1)	central_nervous_system(2)	2						c.(1066-1068)TTT>ATT		desmin							60.0	60.0	60.0					2																	220286104		2203	4300	6503	SO:0001583	missense	1674				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton	g.chr2:220286104T>A	AF521879	CCDS33383.1	2q35	2014-09-17			ENSG00000175084	ENSG00000175084		"""Intermediate filaments type III"""	2770	protein-coding gene	gene with protein product	"""intermediate filament protein"""	125660				2673923, 9736733	Standard	NM_001927		Approved	CMD1I, CSM1, CSM2	uc002vll.3	P17661	OTTHUMG00000058924	ENST00000373960.3:c.1066T>A	2.37:g.220286104T>A	ENSP00000363071:p.Phe356Ile						p.F356I	NM_001927	NP_001918	P17661	DESM_HUMAN		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)	6	1152	+		Renal(207;0.0183)	356			Rod.|Coil 2B.		Q15787|Q549R7|Q549R8|Q549R9|Q8IZR1|Q8IZR6|Q8NES2|Q8NEU6|Q8TAC4|Q8TCX2|Q8TD99|Q9UHN5|Q9UJ80	Missense_Mutation	SNP	ENST00000373960.3	37	c.1066T>A	CCDS33383.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.096787	0.76870	.	.	ENSG00000175084	ENST00000373960	D	0.95724	-3.79	5.12	5.12	0.69794	Filament (1);	0.000000	0.51477	D	0.000081	D	0.95730	0.8611	M	0.79805	2.47	0.35069	D	0.762265	P	0.41848	0.763	P	0.46208	0.507	D	0.97350	0.9963	10	0.22109	T	0.4	.	14.7669	0.69646	0.0:0.0:0.0:1.0	.	356	P17661	DESM_HUMAN	I	356	ENSP00000363071:F356I	ENSP00000363071:F356I	F	+	1	0	DES	219994348	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.608000	0.54109	2.139000	0.66308	0.533000	0.62120	TTT		0.587	DES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130240.1	NM_001927	
COL4A4	1286	broad.mit.edu	37	2	227886828	227886828	+	Silent	SNP	C	C	T	rs75398993	byFrequency	TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr2:227886828C>T	ENST00000396625.3	-	44	4359	c.4152G>A	c.(4150-4152)gcG>gcA	p.A1384A	COL4A4_ENST00000329662.7_Silent_p.A1381A	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1384	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TCATGCCTGGCGCCCCAGGAA	0.567													C|||	11	0.00219649	0.0083	0.0	5008	,	,		13441	0.0		0.0	False		,,,				2504	0.0					uc010zlt.1																			0				ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11						c.(4150-4152)GCG>GCA		alpha 4 type IV collagen precursor		C		28,3740		0,28,1856	128.0	135.0	133.0		4152	-7.2	0.7	2	dbSNP_132	133	0,8200		0,0,4100	no	coding-synonymous	COL4A4	NM_000092.4		0,28,5956	TT,TC,CC		0.0,0.7431,0.234		1384/1691	227886828	28,11940	1884	4100	5984	SO:0001819	synonymous_variant	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227886828C>T		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.4152G>A	2.37:g.227886828C>T							p.A1384A	NM_000092	NP_000083	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	43	4806	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	1384			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Silent	SNP	ENST00000396625.3	37	c.4152G>A	CCDS42828.1																																																																																				0.567	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092	
BTBD3	22903	broad.mit.edu	37	20	11899075	11899075	+	Missense_Mutation	SNP	A	A	G			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr20:11899075A>G	ENST00000405977.1	+	2	777	c.152A>G	c.(151-153)gAa>gGa	p.E51G	RP4-742J24.2_ENST00000439529.1_RNA|BTBD3_ENST00000254977.3_5'UTR|BTBD3_ENST00000378226.2_Missense_Mutation_p.E51G|BTBD3_ENST00000399006.2_5'UTR	NM_001282550.1|NM_001282552.1|NM_001282554.1	NP_001269479.1|NP_001269481.1|NP_001269483.1	Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	51					cerebral cortex development (GO:0021987)|dendrite morphogenesis (GO:0048813)	cytosol (GO:0005829)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						GTTTGTTATGAAATAATTACC	0.458																																						uc002wnz.2																			0				ovary(2)|central_nervous_system(1)	3						c.(151-153)GAA>GGA		BTB/POZ domain containing protein 3 isoform a							148.0	163.0	158.0					20																	11899075		2203	4300	6503	SO:0001583	missense	22903							g.chr20:11899075A>G	AB023169	CCDS13113.1, CCDS13114.1	20p12.2	2013-01-08			ENSG00000132640	ENSG00000132640		"""BTB/POZ domain containing"""	15854	protein-coding gene	gene with protein product		615566					Standard	NM_001282551		Approved	KIAA0952, dJ742J24.1	uc002wnz.3	Q9Y2F9	OTTHUMG00000031889	ENST00000405977.1:c.152A>G	20.37:g.11899075A>G	ENSP00000384545:p.Glu51Gly					BTBD3_uc002wny.2_5'UTR|BTBD3_uc002woa.2_5'UTR|BTBD3_uc010zrf.1_5'UTR|BTBD3_uc010zrg.1_5'Flank|BTBD3_uc010zrh.1_5'Flank	p.E51G	NM_014962	NP_055777	Q9Y2F9	BTBD3_HUMAN			1	511	+			51					D3DW19|Q5JY73	Missense_Mutation	SNP	ENST00000405977.1	37	c.152A>G	CCDS13113.1	.	.	.	.	.	.	.	.	.	.	A	15.79	2.937610	0.52972	.	.	ENSG00000132640	ENST00000405977;ENST00000378226	D;D	0.82081	-1.57;-1.57	6.17	6.17	0.99709	.	0.046950	0.85682	D	0.000000	T	0.79799	0.4508	L	0.46157	1.445	0.80722	D	1	B	0.20887	0.049	B	0.10450	0.005	T	0.75728	-0.3216	10	0.62326	D	0.03	.	16.0034	0.80327	1.0:0.0:0.0:0.0	.	51	Q9Y2F9	BTBD3_HUMAN	G	51	ENSP00000384545:E51G;ENSP00000367471:E51G	ENSP00000367471:E51G	E	+	2	0	BTBD3	11847075	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	GAA		0.458	BTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078021.3		
RPRD1B	58490	broad.mit.edu	37	20	36676850	36676850	+	Missense_Mutation	SNP	T	T	C			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr20:36676850T>C	ENST00000373433.4	+	3	784	c.382T>C	c.(382-384)Tct>Cct	p.S128P		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	128	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.				dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle process (GO:0010564)|transcription, DNA-templated (GO:0006351)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						GCTGAAGCTGTCTATGGAGGA	0.453																																						uc002xho.3																			0				pancreas(1)	1						c.(382-384)TCT>CCT		Regulation of nuclear pre-mRNA domain containing							93.0	82.0	86.0					20																	36676850		2203	4300	6503	SO:0001583	missense	58490							g.chr20:36676850T>C	AL109823	CCDS13301.1	20q11.21-q12	2012-02-09	2008-08-15	2008-07-28	ENSG00000101413	ENSG00000101413			16209	protein-coding gene	gene with protein product		614694	"""chromosome 20 open reading frame 77"""	C20orf77		22231121	Standard	NM_021215		Approved	dJ1057B20.2, DKFZp434P0735, CREPT, FLJ44520, NET60	uc002xho.4	Q9NQG5	OTTHUMG00000032434	ENST00000373433.4:c.382T>C	20.37:g.36676850T>C	ENSP00000362532:p.Ser128Pro						p.S128P	NM_021215	NP_067038	Q9NQG5	RPR1B_HUMAN			3	784	+			128			CID.		Q1WDE7|Q6PKF4	Missense_Mutation	SNP	ENST00000373433.4	37	c.382T>C	CCDS13301.1	.	.	.	.	.	.	.	.	.	.	T	15.80	2.940820	0.52972	.	.	ENSG00000101413	ENST00000373433	T	0.42131	0.98	5.65	5.65	0.86999	ENTH/VHS (2);RNA polymerase II, large subunit, CTD (2);	0.148534	0.64402	D	0.000006	T	0.33352	0.0860	L	0.32530	0.975	0.58432	D	0.999998	B	0.31290	0.318	B	0.28849	0.095	T	0.09509	-1.0671	10	0.30854	T	0.27	-8.3986	15.0569	0.71921	0.0:0.0:0.0:1.0	.	128	Q9NQG5	RPR1B_HUMAN	P	128	ENSP00000362532:S128P	ENSP00000362532:S128P	S	+	1	0	RPRD1B	36110264	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.869000	0.63028	2.151000	0.67156	0.460000	0.39030	TCT		0.453	RPRD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079142.2	NM_021215	
DNAJC28	54943	broad.mit.edu	37	21	34860697	34860697	+	Missense_Mutation	SNP	A	A	G			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr21:34860697A>G	ENST00000314399.3	-	2	1442	c.1004T>C	c.(1003-1005)gTc>gCc	p.V335A	DNAJC28_ENST00000381947.3_Missense_Mutation_p.V335A|DNAJC28_ENST00000402202.1_Missense_Mutation_p.V335A	NM_017833.3	NP_060303.2	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	335				LIVPILTRQKVHFDAQKEIVRAQKIYETLIKTKEVTDRNPN NLDQGEGEKTPEIKKGFLNWMNLWKFIKIRSF -> CSHPD QAKSPF (in Ref. 2; BAA91185). {ECO:0000305}.						endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						CTGGGCTCTGACAATTTCTTT	0.343																																						uc002yrv.2																			0					0						c.(1003-1005)GTC>GCC		DnaJ (Hsp40) homolog, subfamily C, member 28							95.0	90.0	92.0					21																	34860697		2203	4300	6503	SO:0001583	missense	54943						heat shock protein binding	g.chr21:34860697A>G	AK000468	CCDS13626.1	21q22.11	2011-09-02	2008-06-17	2008-06-17	ENSG00000177692	ENSG00000177692		"""Heat shock proteins / DNAJ (HSP40)"""	1297	protein-coding gene	gene with protein product	"""Orf28"""		"""chromosome 21 open reading frame 55"""	C21orf55			Standard	NM_017833		Approved	C21orf78	uc002yrw.3	Q9NX36	OTTHUMG00000065531	ENST00000314399.3:c.1004T>C	21.37:g.34860697A>G	ENSP00000320303:p.Val335Ala					DNAJC28_uc002yrw.2_Missense_Mutation_p.V335A	p.V335A	NM_017833	NP_060303	Q9NX36	DJC28_HUMAN			2	1453	-			335	LIVPILTRQKVHFDAQKEIVRAQKIYETLIKTKEVTDRNPN NLDQGEGEKTPEIKKGFLNWMNLWKFIKIRSF -> CSHPD QAKSPF (in Ref. 2; BAA91185).		Potential.		D3DSF2	Missense_Mutation	SNP	ENST00000314399.3	37	c.1004T>C	CCDS13626.1	.	.	.	.	.	.	.	.	.	.	A	0.076	-1.193339	0.01594	.	.	ENSG00000177692	ENST00000381947;ENST00000314399;ENST00000402202	.	.	.	5.24	0.0817	0.14425	.	1.385730	0.04406	N	0.365174	T	0.15132	0.0365	N	0.02315	-0.6	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20240	-1.0281	9	0.07325	T	0.83	-0.0206	10.0402	0.42153	0.4004:0.0:0.5996:0.0	.	335	Q9NX36	DJC28_HUMAN	A	335	.	ENSP00000320303:V335A	V	-	2	0	DNAJC28	33782567	0.000000	0.05858	0.787000	0.31911	0.927000	0.56198	0.465000	0.22004	0.136000	0.18733	0.528000	0.53228	GTC		0.343	DNAJC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140454.3		
SOX10	6663	broad.mit.edu	37	22	38369502	38369502	+	Nonstop_Mutation	SNP	T	T	G	rs397515368		TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr22:38369502T>G	ENST00000396884.2	-	4	1683	c.1401A>C	c.(1399-1401)taA>taC	p.*467Y	SOX10_ENST00000360880.2_Nonstop_Mutation_p.*467Y|POLR2F_ENST00000407936.1_Intron|POLR2F_ENST00000405557.1_Intron	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	0					anatomical structure morphogenesis (GO:0009653)|cell maturation (GO:0048469)|developmental growth (GO:0048589)|digestive tract morphogenesis (GO:0048546)|enteric nervous system development (GO:0048484)|in utero embryonic development (GO:0001701)|melanocyte differentiation (GO:0030318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system development (GO:0007422)|positive regulation of gliogenesis (GO:0014015)|positive regulation of neuroblast proliferation (GO:0002052)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	extrinsic component of mitochondrial outer membrane (GO:0031315)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|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)|transcription coactivator activity (GO:0003713)			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					AGGGCCCCCTTTAGGGCCGGG	0.692																																					Melanoma(39;342 1098 6220 32775 40068)|GBM(21;140 497 5227 16059 19275)	uc003aun.1																			0					0						c.(1399-1401)TAA>TAC		SRY (sex determining region Y)-box 10							8.0	10.0	10.0					22																	38369502		2152	4216	6368	SO:0001578	stop_lost	6663					cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity	g.chr22:38369502T>G		CCDS13964.1	22q13.1	2014-09-17			ENSG00000100146	ENSG00000100146		"""SRY (sex determining region Y)-boxes"""	11190	protein-coding gene	gene with protein product	"""dominant megacolon, mouse, human homolog of"""	602229				9462749, 10441344, 12944398	Standard	NM_006941		Approved	DOM, WS4, WS2E	uc003aun.1	P56693	OTTHUMG00000149913	ENST00000396884.2:c.1401A>C	22.37:g.38369502T>G						POLR2F_uc003aum.2_Intron|SOX10_uc003auo.1_Nonstop_Mutation_p.*467Y	p.*467Y	NM_006941	NP_008872	P56693	SOX10_HUMAN			4	1679	-	Melanoma(58;0.045)		467					B4DV62|Q6FHW7	Nonstop_Mutation	SNP	ENST00000396884.2	37	c.1401A>C	CCDS13964.1	.	.	.	.	.	.	.	.	.	.	T	0.641	-0.813377	0.02798	.	.	ENSG00000100146	ENST00000396884;ENST00000360880;ENST00000416937	.	.	.	5.12	-1.99	0.07457	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1795	0.48620	0.0:0.4302:0.0:0.5698	.	.	.	.	Y	467;467;287	.	.	X	-	3	2	SOX10	36699448	1.000000	0.71417	0.478000	0.27316	0.178000	0.23041	0.719000	0.25881	-0.219000	0.10003	-0.475000	0.04921	TAA		0.692	SOX10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313875.1	NM_006941	
CELSR1	9620	broad.mit.edu	37	22	46807508	46807508	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr22:46807508C>T	ENST00000262738.3	-	6	4759	c.4760G>A	c.(4759-4761)gGc>gAc	p.G1587D		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1587	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CTTCTTGGAGCCGGTCTGAGT	0.632																																						uc003bhw.1																			0				lung(4)|breast(4)|pancreas(2)|skin(1)	11						c.(4759-4761)GGC>GAC		cadherin EGF LAG seven-pass G-type receptor 1							64.0	57.0	59.0					22																	46807508		2203	4300	6503	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46807508C>T	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.4760G>A	22.37:g.46807508C>T	ENSP00000262738:p.Gly1587Asp					CELSR1_uc011arc.1_5'Flank	p.G1587D	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	6	4760	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1587			Extracellular (Potential).|Laminin G-like 1.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.4760G>A	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.442734	0.83993	.	.	ENSG00000075275	ENST00000262738	T	0.79247	-1.25	4.43	4.43	0.53597	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.64402	U	0.000002	D	0.86401	0.5924	M	0.78223	2.4	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.83745	0.0206	10	0.10377	T	0.69	.	17.0436	0.86496	0.0:1.0:0.0:0.0	.	1587	Q9NYQ6	CELR1_HUMAN	D	1587	ENSP00000262738:G1587D	ENSP00000262738:G1587D	G	-	2	0	CELSR1	45186172	1.000000	0.71417	0.995000	0.50966	0.978000	0.69477	7.215000	0.77966	2.178000	0.69098	0.655000	0.94253	GGC		0.632	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246	
PLXNB2	23654	broad.mit.edu	37	22	50719359	50719359	+	Silent	SNP	C	C	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr22:50719359C>T	ENST00000449103.1	-	24	3947	c.3807G>A	c.(3805-3807)gaG>gaA	p.E1269E	PLXNB2_ENST00000496720.1_5'Flank|PLXNB2_ENST00000359337.4_Silent_p.E1269E			O15031	PLXB2_HUMAN	plexin B2	1269					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGATGCCGGCCTCGTGCACGT	0.652																																						uc003bkv.3																			0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(3805-3807)GAG>GAA		plexin B2 precursor							78.0	90.0	86.0					22																	50719359		2166	4248	6414	SO:0001819	synonymous_variant	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50719359C>T		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.3807G>A	22.37:g.50719359C>T						PLXNB2_uc003bkt.1_Silent_p.E61E|PLXNB2_uc003bku.1_Silent_p.E254E	p.E1269E	NM_012401	NP_036533	O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	24	3913	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1269			Cytoplasmic (Potential).		A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	ENST00000449103.1	37	c.3807G>A	CCDS43035.1																																																																																				0.652	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401	
ZNF385D	79750	broad.mit.edu	37	3	21462765	21462765	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr3:21462765G>A	ENST00000281523.2	-	8	1647	c.1129C>T	c.(1129-1131)Cgg>Tgg	p.R377W		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	377						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.R377W(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GGAGCTGGCCGCAGGAGTGCC	0.532																																						uc003cce.2																			1	Substitution - Missense(1)		large_intestine(1)	large_intestine(2)|skin(2)|ovary(1)	5						c.(1129-1131)CGG>TGG		zinc finger protein 385D							50.0	48.0	49.0					3																	21462765		2203	4300	6503	SO:0001583	missense	79750					nucleus	nucleic acid binding|zinc ion binding	g.chr3:21462765G>A	BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"""zinc finger protein 659"""	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.1129C>T	3.37:g.21462765G>A	ENSP00000281523:p.Arg377Trp						p.R377W	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN			8	1537	-			377						Missense_Mutation	SNP	ENST00000281523.2	37	c.1129C>T	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.629049	0.67015	.	.	ENSG00000151789	ENST00000281523	T	0.51817	0.69	5.95	3.09	0.35607	.	0.000000	0.85682	D	0.000000	T	0.62877	0.2464	L	0.56199	1.76	0.47374	D	0.999406	D	0.89917	1.0	D	0.71184	0.972	T	0.65187	-0.6229	10	0.87932	D	0	-37.636	15.3696	0.74551	0.0:0.0:0.6371:0.3629	.	377	Q9H6B1	Z385D_HUMAN	W	377	ENSP00000281523:R377W	ENSP00000281523:R377W	R	-	1	2	ZNF385D	21437769	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.780000	0.47742	0.352000	0.24053	0.557000	0.71058	CGG		0.532	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697	
PIK3CA	5290	broad.mit.edu	37	3	178921553	178921553	+	Missense_Mutation	SNP	T	T	A	rs121913284		TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr3:178921553T>A	ENST00000263967.3	+	5	1192	c.1035T>A	c.(1033-1035)aaT>aaA	p.N345K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	345	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.N345K(44)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CCTACGTGAATGTAAATATTC	0.308		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		44	Substitution - Missense(44)	p.N345K(29)|p.N345I(2)|p.N345S(1)	breast(27)|endometrium(6)|large_intestine(6)|central_nervous_system(5)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1033-1035)AAT>AAA		phosphoinositide-3-kinase, catalytic, alpha							67.0	66.0	66.0					3																	178921553		1807	4074	5881	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178921553T>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1035T>A	3.37:g.178921553T>A	ENSP00000263967:p.Asn345Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.N345K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		5	1192	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		345					Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1035T>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	T	16.01	3.002090	0.54254	.	.	ENSG00000121879	ENST00000263967	T	0.70164	-0.46	5.41	3.03	0.35002	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	T	0.77745	0.4176	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.75465	-0.3308	10	0.49607	T	0.09	-21.0442	9.7159	0.40274	0.0:0.1415:0.0:0.8585	.	345	P42336	PK3CA_HUMAN	K	345	ENSP00000263967:N345K	ENSP00000263967:N345K	N	+	3	2	PIK3CA	180404247	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.030000	0.41108	0.441000	0.26529	0.402000	0.26972	AAT		0.308	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
PDGFRA	5156	broad.mit.edu	37	4	55152112	55152113	+	In_Frame_Ins	INS	-	-	TTT			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr4:55152112_55152113insTTT	ENST00000257290.5	+	18	2875_2876	c.2544_2545insTTT	c.(2545-2547)tat>TTTtat	p.848_849insF	FIP1L1_ENST00000507166.1_In_Frame_Ins_p.608_609insF	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	848	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		Missing (in a GIST sample; constitutively activated kinase).|Y -> C (in GIST). {ECO:0000269|PubMed:15928335}.|Y -> S (in a hypereosinophilic syndrome sample; constitutively activated kinase). {ECO:0000269|PubMed:21224473}.		adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.N848K(1)|p.Y849D(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	ATGATTCGAACTATGTGTCGAA	0.495			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	uc003han.3				Dom	yes		4	4q11-q13	5156	Mis|O|T	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		GIST|idiopathic hypereosinophilic syndrome		2	Substitution - Missense(2)	p.H845_N848>P(3)|p.N848K(1)|p.H845_N848del(1)	soft_tissue(1)|central_nervous_system(1)	soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674						c.(2542-2547)insTTT		platelet-derived growth factor receptor alpha	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)																																			SO:0001652	inframe_insertion	5156	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55152112_55152113insTTT	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	Exception_encountered	4.37:g.55152112_55152113insTTT	ENSP00000257290:p.Asn848_Tyr849insPhe	TSP Lung(21;0.16)				PDGFRA_uc003haa.2_In_Frame_Ins_p.608_609insF	p.848_849insF	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		18	2875_2876	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		848_849			Protein kinase.|Cytoplasmic (Potential).		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	In_Frame_Ins	INS	ENST00000257290.5	37	c.2544_2545insTTT	CCDS3495.1																																																																																				0.495	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206	
EPHA5	2044	broad.mit.edu	37	4	66467624	66467624	+	Missense_Mutation	SNP	T	T	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr4:66467624T>A	ENST00000273854.3	-	3	1245	c.645A>T	c.(643-645)caA>caT	p.Q215H	EPHA5_ENST00000511294.1_Missense_Mutation_p.Q215H|EPHA5_ENST00000432638.2_Missense_Mutation_p.Q215H|EPHA5_ENST00000354839.4_Missense_Mutation_p.Q215H	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	215	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CACCAACATCTTGAAAAGCAA	0.428										TSP Lung(17;0.13)																												uc003hcy.2																			0				lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						c.(643-645)CAA>CAT		ephrin receptor EphA5 isoform a precursor							76.0	72.0	73.0					4																	66467624		2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66467624T>A	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.645A>T	4.37:g.66467624T>A	ENSP00000273854:p.Gln215His	TSP Lung(17;0.13)				EPHA5_uc003hcx.2_Missense_Mutation_p.Q146H|EPHA5_uc003hcz.2_Missense_Mutation_p.Q215H|EPHA5_uc011cah.1_Missense_Mutation_p.Q215H|EPHA5_uc011cai.1_Missense_Mutation_p.Q215H|EPHA5_uc003hda.2_Missense_Mutation_p.Q215H	p.Q215H	NM_004439	NP_004430	P54756	EPHA5_HUMAN			3	838	-			215			Extracellular (Potential).		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.645A>T	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	T	15.05	2.719551	0.48728	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.04156	3.69;3.69;3.69;3.69	5.83	4.65	0.58169	Tyrosine-protein kinase, receptor class V, conserved site (1);Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.64402	D	0.000015	T	0.20210	0.0486	M	0.82323	2.585	0.50039	D	0.999842	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.97110	0.999;1.0;0.999;0.999	T	0.00294	-1.1840	10	0.62326	D	0.03	.	8.0071	0.30332	0.0:0.1989:0.0:0.8011	.	215;215;215;215	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	H	215	ENSP00000273854:Q215H;ENSP00000389208:Q215H;ENSP00000346899:Q215H;ENSP00000427638:Q215H	ENSP00000273854:Q215H	Q	-	3	2	EPHA5	66150219	1.000000	0.71417	1.000000	0.80357	0.603000	0.37013	1.972000	0.40540	1.036000	0.39998	-0.256000	0.11100	CAA		0.428	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439	
CEP170P1	645455	broad.mit.edu	37	4	119475218	119475218	+	RNA	SNP	C	C	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr4:119475218C>T	ENST00000412784.2	+	0	929					NR_003135.2		Q96L14	C170L_HUMAN	centrosomal protein 170kDa pseudogene 1								identical protein binding (GO:0042802)										AGAGTCAACCCTGATGGGGAA	0.408																																						uc003icb.2																			0					0						c.(844-846)CCT>CTT		RecName: Full=Cep170-like protein;																																						645455							g.chr4:119475218C>T	BC014590		4q26	2010-10-11	2010-10-11	2010-10-11	ENSG00000154608	ENSG00000154608			28364	pseudogene	pseudogene			"""KIAA0470-like"", ""centrosomal protein 170kDa-like"""	KIAA0470L, CEP170L			Standard	NR_003135		Approved	MGC26143, FAM68B	uc003icb.3	Q96L14	OTTHUMG00000132958		4.37:g.119475218C>T							p.P282L	NR_003135						8	929	+									Missense_Mutation	SNP	ENST00000412784.2	37	c.845C>T																																																																																					0.408	CEP170P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000364033.2	NR_003135.2	
FGA	2243	broad.mit.edu	37	4	155507575	155507575	+	Missense_Mutation	SNP	A	A	G			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr4:155507575A>G	ENST00000302053.3	-	5	1084	c.1006T>C	c.(1006-1008)Tct>Cct	p.S336P	FGA_ENST00000403106.3_Missense_Mutation_p.S336P	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	336					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GAGCTCCCAGAGTTCCAGCTT	0.567																																					NSCLC(143;340 1922 20892 22370 48145)	uc003iod.1																			0				ovary(2)|breast(1)	3						c.(1006-1008)TCT>CCT		fibrinogen, alpha polypeptide isoform alpha-E	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						90.0	97.0	94.0					4																	155507575		2203	4300	6503	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155507575A>G		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1006T>C	4.37:g.155507575A>G	ENSP00000306361:p.Ser336Pro					FGA_uc003ioe.1_Missense_Mutation_p.S336P|FGA_uc003iof.1_Intron	p.S336P	NM_000508	NP_000499	P02671	FIBA_HUMAN			5	1064	-	all_hematologic(180;0.215)	Renal(120;0.0458)	336			By similarity.		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.1006T>C	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	A	0.671	-0.801795	0.02841	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	T;T	0.72505	-0.66;-0.66	5.25	-4.38	0.03622	.	3.081050	0.01329	N	0.011194	T	0.31040	0.0784	N	0.00525	-1.395	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.50056	-0.8872	10	0.06099	T	0.92	.	5.6958	0.17855	0.5369:0.0:0.2304:0.2327	.	336;336	P02671-2;P02671	.;FIBA_HUMAN	P	336	ENSP00000306361:S336P;ENSP00000385981:S336P	ENSP00000306361:S336P	S	-	1	0	FGA	155727025	0.000000	0.05858	0.000000	0.03702	0.161000	0.22273	-1.294000	0.02767	-0.671000	0.05274	-1.142000	0.01873	TCT		0.567	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508	
FBXO8	26269	broad.mit.edu	37	4	175180976	175180976	+	Splice_Site	SNP	C	C	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr4:175180976C>A	ENST00000393674.2	-	3	1192	c.330G>T	c.(328-330)ggG>ggT	p.G110G	FBXO8_ENST00000503293.1_Splice_Site_p.G69G	NM_012180.2	NP_036312.2	Q9NRD0	FBX8_HUMAN	F-box protein 8	110	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell junction (GO:0030054)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)		ATTTGCACAACCTATAAAATC	0.318																																						uc003itp.2																			0				breast(2)	2						c.(328-330)GGG>GGT		F-box only protein 8							80.0	90.0	86.0					4																	175180976		2203	4300	6503	SO:0001630	splice_region_variant	26269				regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ARF guanyl-nucleotide exchange factor activity	g.chr4:175180976C>A	AF174596	CCDS3820.1	4q34.1	2008-02-05	2004-06-15			ENSG00000164117		"""F-boxes /  ""other"""""	13587	protein-coding gene	gene with protein product		605649	"""F-box only protein 8"""			10531035, 10531037	Standard	NM_012180		Approved	FBX8, FBS	uc003itp.3	Q9NRD0		ENST00000393674.2:c.330-1G>T	4.37:g.175180976C>A						FBXO8_uc003itq.2_Silent_p.G69G	p.G110G	NM_012180	NP_036312	Q9NRD0	FBX8_HUMAN		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)	3	1180	-		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)	110			F-box.		B2RB40|D3DP41|G5E9Z0|Q6UWN4|Q8IWE1|Q9NRP5|Q9UKC4	Silent	SNP	ENST00000393674.2	37	c.330G>T	CCDS3820.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.577951	0.28180	.	.	ENSG00000164117	ENST00000296517	.	.	.	5.3	2.62	0.31277	.	0.000000	0.85682	D	0.000000	T	0.60805	0.2297	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57653	-0.7774	6	0.54805	T	0.06	.	7.121	0.25444	0.0:0.6683:0.1243:0.2073	.	.	.	.	V	24	.	ENSP00000296517:G24V	G	-	2	0	FBXO8	175417551	1.000000	0.71417	0.998000	0.56505	0.914000	0.54420	1.234000	0.32660	0.317000	0.23160	0.650000	0.86243	GGT		0.318	FBXO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362085.2	NM_012180	Silent
WWC2	80014	broad.mit.edu	37	4	184201980	184201980	+	Missense_Mutation	SNP	G	G	C			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr4:184201980G>C	ENST00000403733.3	+	17	2813	c.2614G>C	c.(2614-2616)Gaa>Caa	p.E872Q	WWC2_ENST00000513834.1_Missense_Mutation_p.E823Q|WWC2_ENST00000448232.2_Missense_Mutation_p.E872Q|WWC2_ENST00000504005.1_Missense_Mutation_p.E554Q|WWC2_ENST00000508747.1_5'Flank	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	872					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		GTTAGCTGTGgaacaagaatt	0.403																																						uc010irx.2																			0				ovary(2)|lung(1)	3						c.(2614-2616)GAA>CAA		WW and C2 domain containing 2							85.0	71.0	76.0					4																	184201980		2203	4300	6503	SO:0001583	missense	80014							g.chr4:184201980G>C	BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"""WW, C2 and coiled-coil domain containing"""	24148	protein-coding gene	gene with protein product			"""WW, C2 and coiled-coil domain containing 2"""			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.2614G>C	4.37:g.184201980G>C	ENSP00000384222:p.Glu872Gln					WWC2_uc003ivk.3_Missense_Mutation_p.E667Q|WWC2_uc003ivl.3_RNA|WWC2_uc010iry.2_Missense_Mutation_p.E554Q|WWC2_uc003ivn.3_Missense_Mutation_p.E387Q|WWC2_uc010irz.2_Missense_Mutation_p.E189Q|WWC2_uc003ivo.3_5'Flank	p.E872Q	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)	17	2796	+		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)	872			Potential.		Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Missense_Mutation	SNP	ENST00000403733.3	37	c.2614G>C	CCDS34109.2	.	.	.	.	.	.	.	.	.	.	G	18.83	3.707220	0.68615	.	.	ENSG00000151718	ENST00000403733;ENST00000513834;ENST00000448232;ENST00000504005	T;T;T;T	0.09350	3.16;3.13;2.99;2.99	4.46	4.46	0.54185	.	0.000000	0.64402	D	0.000012	T	0.20170	0.0485	M	0.72894	2.215	0.80722	D	1	P;P;P	0.46512	0.879;0.763;0.785	B;P;B	0.45794	0.408;0.493;0.295	T	0.02553	-1.1142	10	0.52906	T	0.07	-22.6126	16.8881	0.86080	0.0:0.0:1.0:0.0	.	872;872;823	Q6AWC2-6;Q6AWC2;Q6AWC2-4	.;WWC2_HUMAN;.	Q	872;823;872;554	ENSP00000384222:E872Q;ENSP00000425054:E823Q;ENSP00000398577:E872Q;ENSP00000427569:E554Q	ENSP00000384222:E872Q	E	+	1	0	WWC2	184438974	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.537000	0.60643	2.328000	0.79073	0.557000	0.71058	GAA		0.403	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319608.1	NM_024949	
GFM2	84340	broad.mit.edu	37	5	74028894	74028894	+	Missense_Mutation	SNP	G	G	A	rs139234343	byFrequency	TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr5:74028894G>A	ENST00000296805.3	-	16	1997	c.1540C>T	c.(1540-1542)Cgt>Tgt	p.R514C	GFM2_ENST00000509430.1_Missense_Mutation_p.R514C|GFM2_ENST00000345239.2_Missense_Mutation_p.R467C|GFM2_ENST00000515125.1_5'UTR	NM_032380.3	NP_115756.2			G elongation factor, mitochondrial 2											breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		GGATCTTCACGCTGAAGACAT	0.348													G|||	2	0.000399361	0.0008	0.0	5008	,	,		14113	0.0		0.001	False		,,,				2504	0.0					uc003kdh.1																			0					0						c.(1540-1542)CGT>TGT		mitochondrial elongation factor G2 isoform 1		G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	123.0	117.0	119.0		1540,1399	5.1	1.0	5	dbSNP_134	119	0,8600		0,0,4300	no	missense,missense	GFM2	NM_032380.3,NM_170691.1	180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	514/780,467/733	74028894	1,13005	2203	4300	6503	SO:0001583	missense	84340				mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity	g.chr5:74028894G>A	AF111808	CCDS4023.1, CCDS4024.1, CCDS47232.1	5q13	2008-02-05			ENSG00000164347	ENSG00000164347			29682	protein-coding gene	gene with protein product		606544				11735030	Standard	NM_001281302		Approved	EFG2, FLJ21661	uc003kdh.1	Q969S9	OTTHUMG00000102058	ENST00000296805.3:c.1540C>T	5.37:g.74028894G>A	ENSP00000296805:p.Arg514Cys					GFM2_uc003kdi.1_Missense_Mutation_p.R467C|GFM2_uc010izj.1_Missense_Mutation_p.R546C|GFM2_uc010izk.1_RNA	p.R514C	NM_032380	NP_115756	Q969S9	RRF2M_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)	16	1844	-		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)	514						Missense_Mutation	SNP	ENST00000296805.3	37	c.1540C>T	CCDS4023.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076829	0.76415	2.27E-4	0.0	ENSG00000164347	ENST00000296805;ENST00000345239;ENST00000546082;ENST00000509430	T;T;T	0.73469	-0.75;-0.75;-0.75	5.07	5.07	0.68467	Elongation factor G/III/V (1);	0.000000	0.85682	D	0.000000	D	0.87505	0.6194	M	0.83774	2.66	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.988;0.991;0.962	D	0.89490	0.3756	10	0.87932	D	0	-11.3993	18.4471	0.90688	0.0:0.0:1.0:0.0	.	514;467;514	Q969S9-3;Q969S9-2;Q969S9	.;.;RRF2M_HUMAN	C	514;467;514;514	ENSP00000296805:R514C;ENSP00000296804:R467C;ENSP00000427004:R514C	ENSP00000296805:R514C	R	-	1	0	GFM2	74064650	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	5.769000	0.68865	2.357000	0.79964	0.557000	0.71058	CGT		0.348	GFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219860.2	NM_032380	
GFM2	84340	broad.mit.edu	37	5	74041590	74041590	+	Silent	SNP	T	T	C			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr5:74041590T>C	ENST00000296805.3	-	10	1219	c.762A>G	c.(760-762)aaA>aaG	p.K254K	GFM2_ENST00000427854.2_Silent_p.K254K|GFM2_ENST00000509430.1_Silent_p.K254K|GFM2_ENST00000345239.2_Silent_p.K254K	NM_032380.3	NP_115756.2			G elongation factor, mitochondrial 2											breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		TCTCAAAGTCTTTTCCATCAT	0.358																																						uc003kdh.1																			0					0						c.(760-762)AAA>AAG		mitochondrial elongation factor G2 isoform 1							91.0	86.0	88.0					5																	74041590		2202	4300	6502	SO:0001819	synonymous_variant	84340				mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity	g.chr5:74041590T>C	AF111808	CCDS4023.1, CCDS4024.1, CCDS47232.1	5q13	2008-02-05			ENSG00000164347	ENSG00000164347			29682	protein-coding gene	gene with protein product		606544				11735030	Standard	NM_001281302		Approved	EFG2, FLJ21661	uc003kdh.1	Q969S9	OTTHUMG00000102058	ENST00000296805.3:c.762A>G	5.37:g.74041590T>C						GFM2_uc003kdi.1_Silent_p.K254K|GFM2_uc010izj.1_Silent_p.K286K|GFM2_uc010izk.1_RNA|GFM2_uc003kdj.1_Silent_p.K254K|GFM2_uc010izl.1_Silent_p.K212K	p.K254K	NM_032380	NP_115756	Q969S9	RRF2M_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)	10	1066	-		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)	254						Silent	SNP	ENST00000296805.3	37	c.762A>G	CCDS4023.1																																																																																				0.358	GFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219860.2	NM_032380	
PCDHGA8	9708	broad.mit.edu	37	5	140774103	140774103	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr5:140774103G>A	ENST00000398604.2	+	1	1723	c.1723G>A	c.(1723-1725)Gtg>Atg	p.V575M	PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	575	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCACTGGCGTGGAGCTGGC	0.657																																						uc003lkd.1																			0					0						c.(1723-1725)GTG>ATG		protocadherin gamma subfamily A, 8 isoform 1							85.0	99.0	94.0					5																	140774103		2202	4300	6502	SO:0001583	missense	9708				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140774103G>A	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.1723G>A	5.37:g.140774103G>A	ENSP00000381605:p.Val575Met					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.V575M	p.V575M	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2621	+			575			Extracellular (Potential).|Cadherin 6.		A7MCZ4|O15039	Missense_Mutation	SNP	ENST00000398604.2	37	c.1723G>A	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	9.905	1.207831	0.22205	.	.	ENSG00000253767	ENST00000398604	T	0.15952	2.38	5.06	4.2	0.49525	Cadherin-like (1);	0.000000	0.28624	U	0.014693	T	0.16171	0.0389	L	0.48986	1.54	0.20821	N	0.999845	D;P	0.54964	0.969;0.934	B;B	0.44108	0.223;0.441	T	0.20371	-1.0277	10	0.62326	D	0.03	.	5.1311	0.14911	0.0783:0.1471:0.6221:0.1525	.	575;575	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	M	575	ENSP00000381605:V575M	ENSP00000381605:V575M	V	+	1	0	PCDHGA8	140754287	0.000000	0.05858	0.191000	0.23289	0.598000	0.36846	0.344000	0.19962	1.157000	0.42530	-0.121000	0.15023	GTG		0.657	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088	
ADAMTS2	9509	broad.mit.edu	37	5	178556976	178556976	+	Missense_Mutation	SNP	G	G	A	rs370350117		TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr5:178556976G>A	ENST00000251582.7	-	16	2515	c.2414C>T	c.(2413-2415)aCg>aTg	p.T805M		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	805	Spacer.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GGTCTGCAGCGTCTCCCGGCC	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		16709	0.0		0.0	False		,,,				2504	0.001					uc003mjw.2																			0				large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(2413-2415)ACG>ATG		ADAM metallopeptidase with thrombospondin type 1		G	MET/THR	0,4406		0,0,2203	106.0	101.0	103.0		2414	4.2	1.0	5		103	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADAMTS2	NM_014244.4	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	805/1212	178556976	1,13005	2203	4300	6503	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178556976G>A	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2414C>T	5.37:g.178556976G>A	ENSP00000251582:p.Thr805Met						p.T805M	NM_014244	NP_055059	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	16	2414	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	805			Spacer.			Missense_Mutation	SNP	ENST00000251582.7	37	c.2414C>T	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.308136	0.60305	0.0	1.16E-4	ENSG00000087116	ENST00000251582	T	0.53423	0.62	5.05	4.17	0.49024	ADAM-TS Spacer 1 (1);	0.109185	0.40222	N	0.001145	T	0.47563	0.1452	L	0.61218	1.895	0.80722	D	1	D	0.53151	0.958	P	0.44477	0.451	T	0.53479	-0.8433	10	0.54805	T	0.06	.	12.3873	0.55338	0.0822:0.0:0.9178:0.0	.	805	O95450	ATS2_HUMAN	M	805	ENSP00000251582:T805M	ENSP00000251582:T805M	T	-	2	0	ADAMTS2	178489582	0.998000	0.40836	0.999000	0.59377	0.931000	0.56810	2.694000	0.47035	2.519000	0.84933	0.456000	0.33151	ACG		0.607	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244	
ADAMTS2	9509	broad.mit.edu	37	5	178585775	178585775	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr5:178585775C>T	ENST00000251582.7	-	6	1182	c.1081G>A	c.(1081-1083)Gat>Aat	p.D361N	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.D361N	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	361	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		ATGGCGTGATCGTGGTATTCA	0.607																																						uc003mjw.2																			0				large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(1081-1083)GAT>AAT		ADAM metallopeptidase with thrombospondin type 1							159.0	137.0	144.0					5																	178585775		2203	4300	6503	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178585775C>T	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.1081G>A	5.37:g.178585775C>T	ENSP00000251582:p.Asp361Asn					ADAMTS2_uc011dgm.1_Missense_Mutation_p.D361N	p.D361N	NM_014244	NP_055059	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	6	1081	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	361			Peptidase M12B.			Missense_Mutation	SNP	ENST00000251582.7	37	c.1081G>A	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.040374	0.93630	.	.	ENSG00000087116	ENST00000251582;ENST00000274609	D;D	0.91945	-2.94;-2.94	5.73	5.73	0.89815	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.64402	D	0.000017	D	0.97284	0.9112	M	0.93638	3.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.97919	1.0313	10	0.87932	D	0	.	18.8826	0.92362	0.0:1.0:0.0:0.0	.	361;361	O95450-2;O95450	.;ATS2_HUMAN	N	361	ENSP00000251582:D361N;ENSP00000274609:D361N	ENSP00000251582:D361N	D	-	1	0	ADAMTS2	178518381	1.000000	0.71417	0.983000	0.44433	0.596000	0.36781	7.669000	0.83911	2.695000	0.91970	0.650000	0.86243	GAT		0.607	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244	
TREML2	79865	broad.mit.edu	37	6	41162491	41162491	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr6:41162491G>A	ENST00000483722.1	-	3	642	c.457C>T	c.(457-459)Cct>Tct	p.P153S		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	153					T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCTGAGGTAGGGGCTTGGCCA	0.542																																						uc010jxm.1																			0				ovary(1)|central_nervous_system(1)	2						c.(457-459)CCT>TCT		triggering receptor expressed on myeloid							131.0	115.0	120.0					6																	41162491		2203	4300	6503	SO:0001583	missense	79865				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr6:41162491G>A	AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"""Immunoglobulin superfamily / V-set domain containing"""	21092	protein-coding gene	gene with protein product	"""TREM-like transcript 2"""	609715	"""chromosome 6 open reading frame 76"""	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.457C>T	6.37:g.41162491G>A	ENSP00000418767:p.Pro153Ser						p.P153S	NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN			3	636	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		153			Extracellular (Potential).		Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Missense_Mutation	SNP	ENST00000483722.1	37	c.457C>T	CCDS4853.2	.	.	.	.	.	.	.	.	.	.	G	8.063	0.768479	0.15983	.	.	ENSG00000112195	ENST00000483722	T	0.06687	3.27	4.84	-0.156	0.13391	.	1.053590	0.07459	N	0.900201	T	0.01835	0.0058	M	0.61703	1.905	0.09310	N	1	B	0.31485	0.325	B	0.21917	0.037	T	0.47289	-0.9129	10	0.08837	T	0.75	-2.0634	3.803	0.08765	0.3625:0.0:0.4759:0.1616	.	153	Q5T2D2	TRML2_HUMAN	S	153	ENSP00000418767:P153S	ENSP00000418767:P153S	P	-	1	0	TREML2	41270469	0.005000	0.15991	0.000000	0.03702	0.109000	0.19521	0.627000	0.24506	-0.151000	0.11176	-0.136000	0.14681	CCT		0.542	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807	
DEFB110	245913	broad.mit.edu	37	6	49976918	49976918	+	Missense_Mutation	SNP	G	G	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr6:49976918G>T	ENST00000393660.2	-	2	121	c.122C>A	c.(121-123)aCg>aAg	p.T41K		NM_001037728.2	NP_001032817.1	Q30KQ9	DB110_HUMAN	defensin, beta 110 locus	44					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				endometrium(1)|lung(1)|ovary(1)	3	Lung NSC(77;0.042)					ATCACAAAACGTTTTACATAT	0.333																																						uc011dwr.1																			0				ovary(1)	1						c.(121-123)ACG>AAG		beta-defensin 110 isoform b							189.0	175.0	179.0					6																	49976918		1873	4108	5981	SO:0001583	missense	245913				defense response to bacterium	extracellular region		g.chr6:49976918G>T	DQ012014, BC148541	CCDS43473.1, CCDS34475.1	6p12.3	2010-11-26	2010-11-26		ENSG00000203970	ENSG00000203970		"""Defensins, beta"""	18091	protein-coding gene	gene with protein product			"""defensin, beta 110"""			11854508, 16033865	Standard	NM_001037728		Approved	DEFB-10, DEFB-11, DEFB111	uc003pac.3	Q30KQ9	OTTHUMG00000160208	ENST00000393660.2:c.122C>A	6.37:g.49976918G>T	ENSP00000377270:p.Thr41Lys						p.T41K	NM_001037728	NP_001032817	Q30KQ9	DB110_HUMAN			2	168	-	Lung NSC(77;0.042)		Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q30KR0	Missense_Mutation	SNP	ENST00000393660.2	37	c.122C>A	CCDS43473.1	.	.	.	.	.	.	.	.	.	.	g	14.56	2.570762	0.45798	.	.	ENSG00000203970	ENST00000393660	T	0.08193	3.12	4.9	4.9	0.64082	.	.	.	.	.	T	0.09468	0.0233	.	.	.	0.80722	D	1	D	0.56746	0.977	P	0.52386	0.697	T	0.04693	-1.0933	7	.	.	.	.	13.4692	0.61273	0.0:0.0:1.0:0.0	.	41	Q30KQ9-2	.	K	41	ENSP00000377270:T41K	.	T	-	2	0	DEFB110	50084877	0.985000	0.35326	0.984000	0.44739	0.752000	0.42762	2.592000	0.46171	2.559000	0.86315	0.580000	0.79431	ACG		0.333	DEFB110-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359663.1	NM_001037728	
FAM83B	222584	broad.mit.edu	37	6	54791195	54791195	+	Silent	SNP	T	T	C			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr6:54791195T>C	ENST00000306858.7	+	3	587	c.471T>C	c.(469-471)ttT>ttC	p.F157F		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	157										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TGGATATATTTACAGATGTGG	0.299																																						uc003pck.2																			0				ovary(6)	6						c.(469-471)TTT>TTC		hypothetical protein LOC222584							87.0	92.0	90.0					6																	54791195		2203	4298	6501	SO:0001819	synonymous_variant	222584							g.chr6:54791195T>C	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.471T>C	6.37:g.54791195T>C							p.F157F	NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN			3	587	+	Lung NSC(77;0.0178)|Renal(3;0.122)		157					Q2M1P3|Q96DQ2	Silent	SNP	ENST00000306858.7	37	c.471T>C	CCDS34479.1																																																																																				0.299	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139	
LAMA2	3908	broad.mit.edu	37	6	129371087	129371087	+	Missense_Mutation	SNP	T	T	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr6:129371087T>A	ENST00000421865.2	+	2	186	c.137T>A	c.(136-138)cTt>cAt	p.L46H		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	46	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GTCCTGAATCTTGCTTCTAAT	0.403																																						uc003qbn.2																			0				ovary(8)|breast(1)|skin(1)	10						c.(136-138)CTT>CAT		laminin alpha 2 subunit isoform a precursor							189.0	173.0	178.0					6																	129371087		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129371087T>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.137T>A	6.37:g.129371087T>A	ENSP00000400365:p.Leu46His					LAMA2_uc003qbo.2_Missense_Mutation_p.L46H	p.L46H	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	2	242	+			46			Laminin N-terminal.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.137T>A	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.639349	0.87760	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.80214	-1.35	5.44	5.44	0.79542	Laminin, N-terminal (3);	0.000000	0.64402	D	0.000007	D	0.91405	0.7288	H	0.94847	3.59	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93842	0.7137	10	0.87932	D	0	.	15.4879	0.75582	0.0:0.0:0.0:1.0	.	46;46	A6NF00;P24043	.;LAMA2_HUMAN	H	46	ENSP00000400365:L46H	ENSP00000346769:L46H	L	+	2	0	LAMA2	129412780	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.649000	0.83500	2.064000	0.61679	0.459000	0.35465	CTT		0.403	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		
SASH1	23328	broad.mit.edu	37	6	148865365	148865365	+	Missense_Mutation	SNP	G	G	A	rs145411864		TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr6:148865365G>A	ENST00000367467.3	+	18	3234	c.2759G>A	c.(2758-2760)cGc>cAc	p.R920H		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	920					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GCCTCTGGTCGCGGCCTGTCA	0.517																																						uc003qme.1																			0				central_nervous_system(1)	1						c.(2758-2760)CGC>CAC		SAM and SH3 domain containing 1		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	70.0	79.0	76.0		2759	-2.9	0.0	6	dbSNP_134	76	2,8598	2.2+/-6.3	0,2,4298	no	missense	SASH1	NM_015278.3	29	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign	920/1248	148865365	3,13003	2203	4300	6503	SO:0001583	missense	23328						protein binding	g.chr6:148865365G>A	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.2759G>A	6.37:g.148865365G>A	ENSP00000356437:p.Arg920His					SASH1_uc011eeb.1_Missense_Mutation_p.R681H|SASH1_uc003qmf.1_Missense_Mutation_p.R330H	p.R920H	NM_015278	NP_056093	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	18	3234	+		Ovarian(120;0.0169)	920					Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	37	c.2759G>A	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	G	0.968	-0.700958	0.03255	2.27E-4	2.33E-4	ENSG00000111961	ENST00000367467;ENST00000535767;ENST00000537769	T	0.36520	1.25	5.23	-2.89	0.05665	.	0.975914	0.08447	N	0.944602	T	0.04634	0.0126	N	0.04508	-0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38415	-0.9662	10	0.35671	T	0.21	0.3959	5.0929	0.14718	0.4052:0.0:0.3395:0.2553	.	901;920	Q6P4R9;O94885	.;SASH1_HUMAN	H	920;681;330	ENSP00000356437:R920H	ENSP00000356437:R920H	R	+	2	0	SASH1	148907058	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.509000	0.22707	-0.412000	0.07519	-0.259000	0.10710	CGC		0.517	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278	
PLEKHG1	57480	broad.mit.edu	37	6	151152163	151152163	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr6:151152163G>A	ENST00000358517.2	+	15	2127	c.1916G>A	c.(1915-1917)gGg>gAg	p.G639E	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.G639E			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	639							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		AAAACAGAAGGGCAGGAGGAG	0.478																																						uc003qny.1																			0				ovary(2)	2						c.(1915-1917)GGG>GAG		pleckstrin homology domain containing, family G							48.0	42.0	44.0					6																	151152163		2203	4300	6503	SO:0001583	missense	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151152163G>A	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.1916G>A	6.37:g.151152163G>A	ENSP00000351318:p.Gly639Glu					PLEKHG1_uc011eel.1_Missense_Mutation_p.G679E|PLEKHG1_uc011eem.1_Missense_Mutation_p.G698E|PLEKHG1_uc003qnz.2_Missense_Mutation_p.G639E	p.G639E	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	16	2228	+			639					Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	c.1916G>A	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	G	8.312	0.822295	0.16678	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	T;T	0.57436	0.4;0.4	5.52	0.0559	0.14317	.	0.750686	0.13444	N	0.387426	T	0.20495	0.0493	L	0.57536	1.79	0.09310	N	1	P;B;B	0.35433	0.501;0.004;0.004	B;B;B	0.27608	0.081;0.003;0.003	T	0.06807	-1.0806	10	0.41790	T	0.15	.	5.6584	0.17654	0.2186:0.0:0.4487:0.3328	.	446;639;639	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	E	639	ENSP00000356297:G639E;ENSP00000351318:G639E	ENSP00000351318:G639E	G	+	2	0	PLEKHG1	151193856	0.003000	0.15002	0.001000	0.08648	0.014000	0.08584	0.242000	0.18087	-0.004000	0.14419	-0.377000	0.06932	GGG		0.478	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1		
PLG	5340	broad.mit.edu	37	6	161173177	161173177	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr6:161173177C>T	ENST00000308192.9	+	18	2219	c.2156C>T	c.(2155-2157)gCc>gTc	p.A719V		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	719	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CTCAAGGAAGCCCAGCTCCCT	0.468																																						uc003qtm.3																			0				skin(3)|ovary(1)	4						c.(2155-2157)GCC>GTC		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						59.0	59.0	59.0					6																	161173177		2203	4300	6503	SO:0001583	missense	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161173177C>T	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.2156C>T	6.37:g.161173177C>T	ENSP00000308938:p.Ala719Val						p.A719V	NM_000301	NP_000292	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	18	2219	+			719			Peptidase S1.		Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	ENST00000308192.9	37	c.2156C>T	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	.	15.06	2.720424	0.48728	.	.	ENSG00000122194	ENST00000308192;ENST00000316325	T	0.80994	-1.44	3.38	3.38	0.38709	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.187720	0.25634	U	0.029336	T	0.47838	0.1467	N	0.02765	-0.5	0.44852	D	0.997868	P	0.47253	0.892	B	0.40534	0.332	T	0.64236	-0.6455	10	0.54805	T	0.06	.	14.6685	0.68926	0.0:1.0:0.0:0.0	.	719	P00747	PLMN_HUMAN	V	719;119	ENSP00000308938:A719V	ENSP00000308938:A719V	A	+	2	0	PLG	161093167	1.000000	0.71417	0.784000	0.31847	0.328000	0.28507	5.464000	0.66719	1.582000	0.49881	0.411000	0.27672	GCC		0.468	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301	
GAL3ST4	79690	broad.mit.edu	37	7	99758263	99758263	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr7:99758263C>T	ENST00000360039.4	-	4	1141	c.749G>A	c.(748-750)cGa>cAa	p.R250Q	C7orf43_ENST00000419841.1_5'Flank|C7orf43_ENST00000316937.3_5'Flank|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.R250Q|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.R188Q|GAL3ST4_ENST00000423751.1_Missense_Mutation_p.E149K|GAL3ST4_ENST00000411994.1_Missense_Mutation_p.E149K|C7orf43_ENST00000457641.1_5'Flank	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	250					cell-cell signaling (GO:0007267)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGTTTGGGCTCGAGGGCCAGC	0.567																																						uc003utt.2																			0				ovary(3)	3						c.(748-750)CGA>CAA		galactose-3-O-sulfotransferase 4							113.0	123.0	119.0					7																	99758263		2202	4296	6498	SO:0001583	missense	79690				cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	g.chr7:99758263C>T	AF316113	CCDS5688.1	7q22.1	2007-04-02			ENSG00000197093	ENSG00000197093		"""Sulfotransferases, membrane-bound"""	24145	protein-coding gene	gene with protein product		608235				11333265	Standard	NM_024637		Approved	FLJ12116	uc003utu.3	Q96RP7	OTTHUMG00000154885	ENST00000360039.4:c.749G>A	7.37:g.99758263C>T	ENSP00000353142:p.Arg250Gln					C7orf43_uc011kjj.1_5'Flank|C7orf43_uc003utr.2_5'Flank|C7orf43_uc003uts.2_5'Flank|GAL3ST4_uc003utu.2_Missense_Mutation_p.R250Q|GAL3ST4_uc010lgq.2_Missense_Mutation_p.R188Q	p.R250Q	NM_024637	NP_078913	Q96RP7	G3ST4_HUMAN			3	1766	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		250			Lumenal (Potential).		A4D2A8|B4DWL8|D6W5U5|Q8N3P7|Q8WZ17|Q96E33|Q9HA78	Missense_Mutation	SNP	ENST00000360039.4	37	c.749G>A	CCDS5688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.776|3.776	-0.046582|-0.046582	0.07407|0.07407	.|.	.|.	ENSG00000197093|ENSG00000197093	ENST00000423751;ENST00000411994|ENST00000413800;ENST00000360039;ENST00000426974	.|T;T;T	.|0.33654	.|1.5;1.5;1.4	4.6|4.6	-0.723|-0.723	0.11181|0.11181	.|.	.|.	.|.	.|.	.|.	T|T	0.17238|0.17238	0.0414|0.0414	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|B;B	.|0.14438	.|0.01;0.001	.|B;B	.|0.04013	.|0.001;0.0	T|T	0.22452|0.22452	-1.0216|-1.0216	6|9	0.87932|0.27082	D|T	0|0.32	2.9222|2.9222	4.5679|4.5679	0.12196|0.12196	0.0:0.3641:0.2948:0.3411|0.0:0.3641:0.2948:0.3411	.|.	.|188;250	.|B4DWL8;Q96RP7	.|.;G3ST4_HUMAN	K|Q	149|250;250;188	.|ENSP00000400451:R250Q;ENSP00000353142:R250Q;ENSP00000398304:R188Q	ENSP00000414733:E149K|ENSP00000353142:R250Q	E|R	-|-	1|2	0|0	GAL3ST4|GAL3ST4	99596199|99596199	0.000000|0.000000	0.05858|0.05858	0.035000|0.035000	0.18076|0.18076	0.228000|0.228000	0.25075|0.25075	-0.353000|-0.353000	0.07691|0.07691	-0.056000|-0.056000	0.13221|0.13221	0.511000|0.511000	0.50034|0.50034	GAG|CGA		0.567	GAL3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337495.2	NM_024637	
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.3	V600E(UACC257_SKIN)|V600D(K029AX_SKIN)|V600E(HS695T_SKIN)|V600E(COLO679_SKIN)|V600E(BT474_BREAST)|V600E(IGR39_SKIN)|V600E(A101D_SKIN)|V600E(COLO783_SKIN)|V600E(IGR37_SKIN)|V600E(A375_SKIN)|V600E(WM793_SKIN)|V600E(COLO818_SKIN)|V600E(HS294T_SKIN)|V600E(SKMEL28_SKIN)|V600E(DU4475_BREAST)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(IGR1_SKIN)|V600E(SKHEP1_LIVER)|V600E(WM983B_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(RVH421_SKIN)|V600D(WM2664_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(SKMEL24_SKIN)|V600D(WM115_SKIN)|V600E(MALME3M_SKIN)|V600E(A673_BONE)|V600E(C32_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(COLO800_SKIN)|V600E(COLO741_SKIN)|V600E(HS939T_SKIN)|V600E(COLO205_LARGE_INTESTINE)|V600E(K029AX_SKIN)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(SH4_SKIN)|V600E(WM88_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(COLO849_SKIN)|V600E(MELHO_SKIN)|V600E(BHT101_THYROID)|V600E(G361_SKIN)|V600E(UACC62_SKIN)|V600E(BCPAP_THYROID)|V600E(8505C_THYROID)|V600E(SW1417_LARGE_INTESTINE)|V600E(COLO829_SKIN)|V600E(RKO_LARGE_INTESTINE)|V600E(A2058_SKIN)|V600E(RPMI7951_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(SKMEL5_SKIN)|V600E(ES2_OVARY)|V600E(LOXIMVI_SKIN)	61		Dom	yes		7	7q34	673	Mis|T|O	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	AKAP9|KIAA1549		melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma	KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(16892)|p.V600?(325)|p.V600K(176)|p.V600R(36)|p.V600M(25)|p.V600A(23)|p.V600D(21)|p.V600G(11)|p.V600_K601>E(8)|p.T599_V600insTT(3)|p.T599_R603>I(2)|p.T599_V600>IAL(2)|p.V600L(2)|p.T599_V600insT(2)|p.V600_W604del(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insV(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290						c.(1798-1800)GTG>GAG		B-Raf	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous_syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333	NP_004324	P15056	BRAF_HUMAN			15	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333	
FAM86B2	653333	broad.mit.edu	37	8	12286307	12286307	+	Missense_Mutation	SNP	T	T	C	rs2719492	byFrequency	TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr8:12286307T>C	ENST00000262365.4	-	6	576	c.577A>G	c.(577-579)Atc>Gtc	p.I193V	FAM86B2_ENST00000309608.5_Intron|FAM86B2_ENST00000393715.3_Intron|FAM86B2_ENST00000351291.4_Missense_Mutation_p.I159V	NM_001137610.1	NP_001131082.1	P0C5J1	F86B2_HUMAN	family with sequence similarity 86, member B2	193										endometrium(1)|kidney(2)	3						TGCTCGAGGATCCGGCTGTGA	0.602													N|||	2149	0.429113	0.5151	0.4524	5008	,	,		12361	0.3998		0.3738	False		,,,				2504	0.3834					uc003wvt.3																			0					0						c.(577-579)ATC>GTC		hypothetical protein LOC653333							25.0	25.0	25.0					8																	12286307		229	838	1067	SO:0001583	missense	653333							g.chr8:12286307T>C		CCDS59092.1	8p23.1	2011-07-01			ENSG00000145002	ENSG00000145002			32222	protein-coding gene	gene with protein product							Standard	NM_001137610		Approved		uc003wvt.4	P0C5J1	OTTHUMG00000165462	ENST00000262365.4:c.577A>G	8.37:g.12286307T>C	ENSP00000262365:p.Ile193Val					FAM66D_uc011kxp.1_Intron|uc003wvm.1_Intron|FAM86B2_uc003wvq.3_Intron|FAM86B2_uc003wvr.3_Missense_Mutation_p.I16V|FAM86B2_uc003wvs.3_Missense_Mutation_p.I93V|FAM86B2_uc010lsn.2_Intron|FAM86B2_uc003wvu.3_Intron|FAM86B2_uc010lso.2_Intron|FAM86B2_uc011kxt.1_Intron|FAM86B2_uc011kxu.1_Intron|FAM86B2_uc010lsl.2_Intron	p.I193V	NM_001137610	NP_001131082	P0C5J1	F86B2_HUMAN			6	577	-			193						Missense_Mutation	SNP	ENST00000262365.4	37	c.577A>G	CCDS59092.1	.	.	.	.	.	.	.	.	.	.	c	0.008	-1.920349	0.00498	.	.	ENSG00000145002	ENST00000262365;ENST00000351291;ENST00000527331	T;T;T	0.16073	2.37;2.37;2.37	1.16	0.202	0.15190	.	.	.	.	.	T	0.02418	0.0074	N	0.00219	-1.825	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43814	-0.9368	9	0.02654	T	1	.	4.1295	0.10143	0.0:0.5837:0.2408:0.1755	.	193	P0C5J1	F86B2_HUMAN	V	193;159;159	ENSP00000262365:I193V;ENSP00000283479:I159V;ENSP00000432491:I159V	ENSP00000262365:I193V	I	-	1	0	FAM86B2	12330678	0.997000	0.39634	0.178000	0.23040	0.042000	0.13812	3.640000	0.54350	-0.331000	0.08501	-3.466000	0.00035	ATC		0.602	FAM86B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_928336	
ASAH1	427	broad.mit.edu	37	8	17916969	17916969	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr8:17916969C>T	ENST00000262097.6	-	12	1233	c.922G>A	c.(922-924)Gat>Aat	p.D308N	ASAH1_ENST00000381733.4_Missense_Mutation_p.D324N|ASAH1_ENST00000314146.10_Missense_Mutation_p.D302N|ASAH1_ENST00000417108.2_Missense_Mutation_p.D218N|ASAH1_ENST00000520781.1_Missense_Mutation_p.D283N	NM_177924.3	NP_808592.2	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase (acid ceramidase) 1	308					cell death (GO:0008219)|ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lung development (GO:0030324)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|ceramidase activity (GO:0017040)			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		TGCTTAGCATCGAGTCTAGAT	0.398																																						uc003wyl.2																			0					0						c.(922-924)GAT>AAT		N-acylsphingosine amidohydrolase 1 isoform a							188.0	169.0	176.0					8																	17916969		2203	4300	6503	SO:0001583	missense	427				ceramide metabolic process	lysosome	ceramidase activity	g.chr8:17916969C>T	U70063	CCDS6005.1, CCDS6006.1, CCDS47813.1	8p22	2007-03-27	2002-09-11	2002-09-13	ENSG00000104763	ENSG00000104763			735	protein-coding gene	gene with protein product		613468	"""N-acylsphingosine amidohydrolase (acid ceramidase)"""	ASAH		8955159, 10610716	Standard	NM_004315		Approved	AC, PHP32, FLJ21558	uc003wyn.2	Q13510	OTTHUMG00000096997	ENST00000262097.6:c.922G>A	8.37:g.17916969C>T	ENSP00000262097:p.Asp308Asn					ASAH1_uc010ltb.1_RNA|ASAH1_uc003wym.2_Missense_Mutation_p.D283N|ASAH1_uc003wyn.2_Missense_Mutation_p.D324N|ASAH1_uc003wyo.2_Missense_Mutation_p.D302N	p.D308N	NM_177924	NP_808592	Q13510	ASAH1_HUMAN		Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)	12	1234	-			308					E9PDS0|Q6W898|Q96AS2	Missense_Mutation	SNP	ENST00000262097.6	37	c.922G>A	CCDS6006.1	.	.	.	.	.	.	.	.	.	.	C	7.733	0.699730	0.15106	.	.	ENSG00000104763	ENST00000262097;ENST00000381733;ENST00000520781;ENST00000417108;ENST00000314146	T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22	5.53	1.21	0.21127	.	0.667620	0.16516	N	0.211026	T	0.61135	0.2323	N	0.25380	0.74	0.09310	N	1	B;B;B;B	0.14805	0.011;0.009;0.003;0.003	B;B;B;B	0.20767	0.031;0.013;0.021;0.021	T	0.40942	-0.9536	10	0.11485	T	0.65	-13.4716	9.8739	0.41191	0.0:0.672:0.0:0.328	.	302;324;283;308	E9PDS0;Q13510-2;E7EMM4;Q13510	.;.;.;ASAH1_HUMAN	N	308;324;283;218;302	ENSP00000262097:D308N;ENSP00000371152:D324N;ENSP00000427751:D283N;ENSP00000394125:D218N;ENSP00000326970:D302N	ENSP00000262097:D308N	D	-	1	0	ASAH1	17961249	0.001000	0.12720	0.000000	0.03702	0.212000	0.24457	0.145000	0.16157	0.273000	0.22049	0.650000	0.86243	GAT		0.398	ASAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214077.2	NM_004315	
DNAJC5B	85479	broad.mit.edu	37	8	66963845	66963845	+	Silent	SNP	C	C	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr8:66963845C>T	ENST00000276570.5	+	3	350	c.63C>T	c.(61-63)taC>taT	p.Y21Y	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	21	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.					membrane (GO:0016020)				endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			AAGCTCTATACGAAATTCTTG	0.398																																						uc003xvs.1																			0					0						c.(61-63)TAC>TAT		DnaJ (Hsp40) homolog, subfamily C, member 5							127.0	120.0	122.0					8																	66963845		2203	4300	6503	SO:0001819	synonymous_variant	85479				protein folding	membrane	heat shock protein binding|unfolded protein binding	g.chr8:66963845C>T	AF368276	CCDS6183.1	8q13.1	2012-10-02			ENSG00000147570	ENSG00000147570		"""Heat shock proteins / DNAJ (HSP40)"""	24138	protein-coding gene	gene with protein product		613945				12477932	Standard	NM_033105		Approved	MGC26226, CSP-beta	uc003xvs.1	Q9UF47	OTTHUMG00000164470	ENST00000276570.5:c.63C>T	8.37:g.66963845C>T						DNAJC5B_uc003xvt.1_RNA	p.Y21Y	NM_033105	NP_149096	Q9UF47	DNJ5B_HUMAN	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)		3	354	+		Lung NSC(129;0.114)|all_lung(136;0.188)	21			J.		Q969Y8	Silent	SNP	ENST00000276570.5	37	c.63C>T	CCDS6183.1																																																																																				0.398	DNAJC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378915.1	NM_033105	
RNF19A	25897	broad.mit.edu	37	8	101273881	101273881	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr8:101273881C>T	ENST00000519449.1	-	9	1887	c.1571G>A	c.(1570-1572)cGa>cAa	p.R524Q	RNF19A_ENST00000523255.1_5'UTR|RNF19A_ENST00000341084.2_Missense_Mutation_p.R524Q	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	524					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			GGCTCCTATTCGATCCATGTG	0.532																																						uc003yjj.1																			0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1570-1572)CGA>CAA		ring finger protein 19							191.0	141.0	158.0					8																	101273881		2203	4300	6503	SO:0001583	missense	25897				microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding	g.chr8:101273881C>T	AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"""RING-type (C3HC4) zinc fingers"""	13432	protein-coding gene	gene with protein product		607119	"""ring finger protein 19"", ""ring finger protein 19A"", ""ring finger protein 19A, E3 ubiquitin protein ligase"""	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.1571G>A	8.37:g.101273881C>T	ENSP00000428968:p.Arg524Gln					RNF19A_uc003yjk.1_Missense_Mutation_p.R524Q	p.R524Q	NM_015435	NP_056250	Q9NV58	RN19A_HUMAN	Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)		9	1888	-	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		524					A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Missense_Mutation	SNP	ENST00000519449.1	37	c.1571G>A	CCDS6286.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.032441	0.93575	.	.	ENSG00000034677	ENST00000519449;ENST00000341084	D;D	0.84589	-1.87;-1.87	5.34	5.34	0.76211	.	0.056153	0.64402	D	0.000001	D	0.86410	0.5926	L	0.59436	1.845	0.52501	D	0.999956	D	0.71674	0.998	P	0.50860	0.652	T	0.83233	-0.0062	10	0.13853	T	0.58	.	18.6531	0.91439	0.0:1.0:0.0:0.0	.	524	Q9NV58	RN19A_HUMAN	Q	524	ENSP00000428968:R524Q;ENSP00000342667:R524Q	ENSP00000342667:R524Q	R	-	2	0	RNF19A	101343057	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.074000	0.71253	2.512000	0.84698	0.591000	0.81541	CGA		0.532	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380004.1	NM_015435	
USP9X	8239	broad.mit.edu	37	X	41075440	41075440	+	Nonsense_Mutation	SNP	C	C	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chrX:41075440C>T	ENST00000324545.8	+	35	6253	c.5620C>T	c.(5620-5622)Caa>Taa	p.Q1874*	USP9X_ENST00000378308.2_Nonsense_Mutation_p.Q1874*	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1874	USP.				axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ACACAGTGGTCAAGCGAGTGG	0.443																																					Ovarian(172;1807 2695 35459 49286)	uc004dfb.2																			0				lung(3)|breast(2)|ovary(1)	6						c.(5620-5622)CAA>TAA		ubiquitin specific protease 9, X-linked isoform							99.0	106.0	104.0					X																	41075440		2195	4296	6491	SO:0001587	stop_gained	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41075440C>T	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.5620C>T	X.37:g.41075440C>T	ENSP00000316357:p.Gln1874*					USP9X_uc004dfc.2_Nonsense_Mutation_p.Q1874*	p.Q1874*	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN			35	6253	+			1874					O75550|Q8WWT3|Q8WX12	Nonsense_Mutation	SNP	ENST00000324545.8	37	c.5620C>T	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	C	50	16.847906	0.99873	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.0113	0.92874	0.0:1.0:0.0:0.0	.	.	.	.	X	1874	.	ENSP00000316357:Q1874X	Q	+	1	0	USP9X	40960384	1.000000	0.71417	0.999000	0.59377	0.957000	0.61999	7.487000	0.81328	2.439000	0.82584	0.544000	0.68410	CAA		0.443	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652	
