#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
RERE	473	broad.mit.edu	37	1	8716284	8716285	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:8716284_8716285delTC	ENST00000337907.3	-	3	706_707	c.72_73delGA	c.(70-75)gagaaafs	p.K25fs	RERE_ENST00000400907.2_Frame_Shift_Del_p.K25fs|RERE_ENST00000400908.2_Frame_Shift_Del_p.K25fs	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	25					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TTGTCTCTTTTCtctctctctc	0.505																																						uc001ape.3																			0				central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(70-75)gagaaafs		Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8716284_8716285delTC	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.72_73delGA	1.37:g.8716294_8716295delTC	ENSP00000338629:p.Lys25fs					RERE_uc001apf.3_Frame_Shift_Del_p.E24fs|RERE_uc001aph.1_Frame_Shift_Del_p.E24fs	p.E24fs	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	2	882_883	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	24					O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Frame_Shift_Del	DEL	ENST00000337907.3	37	c.72_73delGA	CCDS95.1																																																																																				0.505	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1		
CROCC	9696	broad.mit.edu	37	1	17266398	17266398	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:17266398G>A	ENST00000375541.5	+	13	1687	c.1618G>A	c.(1618-1620)Ggg>Agg	p.G540R	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GGACATGCGTGGGCGCTATGA	0.647																																						uc001azt.2																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62						c.(1618-1620)Ggg>Agg		Homo sapiens ciliary rootlet coiled-coil, rootletin (CROCC), mRNA.							52.0	49.0	50.0					1																	17266398		2202	4296	6498	SO:0001583	missense	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17266398G>A	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.1618G>A	1.37:g.17266398G>A	ENSP00000364691:p.Gly540Arg					CROCC_uc009voy.1_Missense_Mutation_p.G243R|CROCC_uc009voz.1_Missense_Mutation_p.G303R|CROCC_uc001azu.2_5'UTR	p.G540R	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	12	1687	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	540						Missense_Mutation	SNP	ENST00000375541.5	37	c.1618G>A	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.125262	0.56721	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.09630	2.96	4.89	4.89	0.63831	.	.	.	.	.	T	0.23688	0.0573	L	0.47716	1.5	0.58432	D	0.999996	D;D;D	0.76494	0.998;0.999;0.992	D;D;D	0.72075	0.962;0.976;0.914	T	0.02064	-1.1220	9	0.13108	T	0.6	.	16.3533	0.83225	0.0:0.0:1.0:0.0	.	403;403;540	A1L0S8;A1L0S9;Q5TZA2	.;.;CROCC_HUMAN	R	540;421	ENSP00000364691:G540R	ENSP00000364691:G540R	G	+	1	0	CROCC	17138985	0.967000	0.33354	0.959000	0.39883	0.906000	0.53458	1.542000	0.36137	2.651000	0.90000	0.561000	0.74099	GGG		0.647	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675	
CLIC4	25932	broad.mit.edu	37	1	25124266	25124266	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:25124266C>T	ENST00000374379.4	+	2	303	c.106C>T	c.(106-108)Ccc>Tcc	p.P36S	CLIC4_ENST00000497755.1_3'UTR	NM_013943.2	NP_039234.1	Q9Y696	CLIC4_HUMAN	chloride intracellular channel 4	36	Required for insertion into the membrane. {ECO:0000305}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cell differentiation (GO:0030154)|cellular response to calcium ion (GO:0071277)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|endothelial cell morphogenesis (GO:0001886)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|fertilization (GO:0009566)|keratinocyte differentiation (GO:0030216)|multicellular organism growth (GO:0035264)|negative regulation of cell migration (GO:0030336)|regulation of cytoskeleton organization (GO:0051493)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|vacuolar acidification (GO:0007035)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|microvillus (GO:0005902)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			large_intestine(3)|lung(2)|skin(1)	6		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)		AGGAAACTGCCCCTTTTCCCA	0.403																																						uc001bjo.2																			0				large_intestine(3)|lung(2)|skin(1)	6						c.(106-108)Ccc>Tcc		Homo sapiens chloride intracellular channel 4 (CLIC4), nuclear gene encoding mitochondrial protein, mRNA.							133.0	133.0	133.0					1																	25124266		2203	4300	6503	SO:0001583	missense	25932				cellular response to calcium ion|establishment or maintenance of apical/basal cell polarity|keratinocyte differentiation|negative regulation of cell migration|regulation of cytoskeleton organization	actin cytoskeleton|apical part of cell|cell surface|cell-cell junction|centrosome|chloride channel complex|cytoplasmic vesicle membrane|cytosol|microvillus|midbody|mitochondrion|nuclear matrix|perinuclear region of cytoplasm|soluble fraction	voltage-gated chloride channel activity	g.chr1:25124266C>T	AF097330	CCDS256.1	1p	2012-09-26			ENSG00000169504	ENSG00000169504		"""Ion channels / Chloride channels : Intracellular"""	13518	protein-coding gene	gene with protein product		606536				9139710, 10070163	Standard	NM_013943		Approved	DKFZP566G223, CLIC4L, P64H1, H1, huH1, p64H1	uc001bjo.2	Q9Y696	OTTHUMG00000003327	ENST00000374379.4:c.106C>T	1.37:g.25124266C>T	ENSP00000363500:p.Pro36Ser					CLIC4_uc001bjp.1_Intron	p.P36S	NM_013943	NP_039234	Q9Y696	CLIC4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)	1	391	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	36			Required for insertion into the membrane (Probable).		Q9UFW9|Q9UQJ6	Missense_Mutation	SNP	ENST00000374379.4	37	c.106C>T	CCDS256.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.854216	0.91355	.	.	ENSG00000169504	ENST00000374379;ENST00000444041	T	0.39406	1.08	5.96	5.05	0.67936	Thioredoxin-like fold (2);	0.048377	0.85682	N	0.000000	T	0.52208	0.1720	M	0.91510	3.215	0.42943	D	0.99435	P	0.38992	0.653	B	0.34301	0.179	T	0.64956	-0.6285	10	0.66056	D	0.02	-11.9903	14.8752	0.70488	0.0:0.9307:0.0:0.0693	.	36	Q9Y696	CLIC4_HUMAN	S	36	ENSP00000363500:P36S	ENSP00000363500:P36S	P	+	1	0	CLIC4	24996853	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.460000	0.80816	1.536000	0.49237	-0.140000	0.14226	CCC		0.403	CLIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009332.1	NM_013943	
BSDC1	55108	broad.mit.edu	37	1	32843632	32843632	+	Silent	SNP	G	G	A	rs371990220		TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:32843632G>A	ENST00000455895.2	-	8	648	c.615C>T	c.(613-615)gaC>gaT	p.D205D	BSDC1_ENST00000526031.1_Silent_p.D110D|BSDC1_ENST00000449308.1_Silent_p.D205D|BSDC1_ENST00000413080.1_Splice_Site|BSDC1_ENST00000446293.2_Silent_p.D222D|BSDC1_ENST00000419121.2_Silent_p.D149D|BSDC1_ENST00000341071.7_Silent_p.D222D	NM_001143888.1|NM_018045.6	NP_001137360.1|NP_060515.3	Q9NW68	BSDC1_HUMAN	BSD domain containing 1	205										breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GCTTCAGGGCGTCCCTCCGGG	0.622																																						uc001bvi.3																			0				breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17						c.(664-666)gaC>gaT		Homo sapiens BSD domain containing 1 (BSDC1), transcript variant 1, mRNA.		G	,,,	1,4405		0,1,2202	57.0	54.0	55.0		666,447,330,615	-1.3	1.0	1		55	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BSDC1	NM_001143888.1,NM_001143889.1,NM_001143890.1,NM_018045.6	,,,	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	,,,	222/448,149/375,110/336,205/431	32843632	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	55108						protein binding	g.chr1:32843632G>A	BX641056	CCDS363.2, CCDS44101.1, CCDS44102.1, CCDS44103.1, CCDS72752.1	1p35.1	2008-02-05			ENSG00000160058	ENSG00000160058			25501	protein-coding gene	gene with protein product						12477932	Standard	XM_005270985		Approved	FLJ10276, RP4-811H24.7	uc010ohg.2	Q9NW68	OTTHUMG00000007588	ENST00000455895.2:c.615C>T	1.37:g.32843632G>A						BSDC1_uc001bvh.4_Silent_p.D205D|BSDC1_uc010ohg.2_Silent_p.D222D|BSDC1_uc010ohh.2_Silent_p.D149D|BSDC1_uc010ohi.2_Silent_p.D110D|BSDC1_uc001bvg.4_Non-coding_Transcript|BSDC1_uc001bvj.3_Silent_p.D101D	p.D222D			Q9NW68	BSDC1_HUMAN			7	713	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	205					B4DMS7|B4DTI7|B4DTP7|B4E2X8|Q49AT8|Q68DY6|Q6IAA3|Q6MZK1|Q6UXS1|Q9HAL9	Silent	SNP	ENST00000455895.2	37	c.666C>T	CCDS363.2	.	.	.	.	.	.	.	.	.	.	G	13.89	2.373498	0.42105	2.27E-4	3.49E-4	ENSG00000160058	ENST00000413080	.	.	.	5.45	-1.27	0.09347	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.5245	0.02523	0.4025:0.2603:0.2221:0.1151	.	.	.	.	.	-1	.	.	.	-	.	.	BSDC1	32616219	0.997000	0.39634	0.998000	0.56505	0.985000	0.73830	0.452000	0.21795	-0.060000	0.13132	-0.290000	0.09829	.		0.622	BSDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020056.3	NM_018045	
IL12RB2	3595	broad.mit.edu	37	1	67787302	67787302	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:67787302G>A	ENST00000262345.1	+	3	734	c.94G>A	c.(94-96)Gat>Aat	p.D32N	IL12RB2_ENST00000371000.1_Missense_Mutation_p.D32N|IL12RB2_ENST00000541374.1_Missense_Mutation_p.D32N|IL12RB2_ENST00000544434.1_Missense_Mutation_p.D32N	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	32					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						CAAGAGAGGCGATGTGACTGT	0.393																																						uc001ddu.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						c.(94-96)Gat>Aat		Homo sapiens interleukin 12 receptor, beta 2 (IL12RB2), mRNA.							124.0	112.0	116.0					1																	67787302		2203	4300	6503	SO:0001583	missense	3595				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	g.chr1:67787302G>A	U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.94G>A	1.37:g.67787302G>A	ENSP00000262345:p.Asp32Asn					IL12RB2_uc010oqi.2_Missense_Mutation_p.D32N|IL12RB2_uc010oqj.2_Missense_Mutation_p.D32N|IL12RB2_uc010oqk.2_Non-coding_Transcript|IL12RB2_uc010oql.2_Missense_Mutation_p.D32N|IL12RB2_uc010oqm.2_Missense_Mutation_p.D32N|IL12RB2_uc010oqn.2_Non-coding_Transcript	p.D32N	NM_001559	NP_001550	Q99665	I12R2_HUMAN			2	734	+			32					B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Missense_Mutation	SNP	ENST00000262345.1	37	c.94G>A	CCDS638.1	.	.	.	.	.	.	.	.	.	.	G	1.625	-0.520567	0.04171	.	.	ENSG00000081985	ENST00000262345;ENST00000371000;ENST00000541374;ENST00000544434	T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17	5.56	3.24	0.37175	Immunoglobulin C2-set-like, ligand-binding (1);	0.834247	0.11388	N	0.569087	T	0.50171	0.1600	L	0.32530	0.975	0.09310	N	1	B;P;B;D	0.53151	0.282;0.645;0.239;0.958	B;B;B;P	0.46275	0.039;0.104;0.023;0.51	T	0.32613	-0.9900	10	0.23302	T	0.38	-1.7228	5.8366	0.18611	0.1343:0.1789:0.6868:0.0	.	32;32;32;32	B4DGA4;F5H7L6;Q99665-2;Q99665	.;.;.;I12R2_HUMAN	N	32	ENSP00000262345:D32N;ENSP00000360039:D32N;ENSP00000445276:D32N;ENSP00000442443:D32N	ENSP00000262345:D32N	D	+	1	0	IL12RB2	67559890	0.090000	0.21635	0.066000	0.19879	0.001000	0.01503	1.138000	0.31491	0.443000	0.26582	-0.274000	0.10170	GAT		0.393	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559	
SYDE2	84144	broad.mit.edu	37	1	85624652	85624652	+	Silent	SNP	G	G	A	rs371604572		TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:85624652G>A	ENST00000341460.5	-	7	3415	c.3366C>T	c.(3364-3366)atC>atT	p.I1122I		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	1122					activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		AATTTTCTCCGATTTTTCTAT	0.363																																						uc009wcm.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20						c.(3364-3366)atC>atT		Homo sapiens synapse defective 1, Rho GTPase, homolog 2 (C. elegans) (SYDE2), mRNA.		G		3,3669		0,3,1833	101.0	92.0	95.0		3366	1.2	0.9	1		95	1,8185		0,1,4092	no	coding-synonymous	SYDE2	NM_032184.1		0,4,5925	AA,AG,GG		0.0122,0.0817,0.0337		1122/1195	85624652	4,11854	1836	4093	5929	SO:0001819	synonymous_variant	84144				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr1:85624652G>A	AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.3366C>T	1.37:g.85624652G>A							p.I1122I	NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0336)	6	3415	-			1122					Q5VT96|Q8NDB8|Q9H8A6	Silent	SNP	ENST00000341460.5	37	c.3366C>T	CCDS44169.1																																																																																				0.363	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127989.2		
GBP3	2635	broad.mit.edu	37	1	89481028	89481028	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:89481028T>C	ENST00000370481.4	-	3	480	c.260A>G	c.(259-261)aAa>aGa	p.K87R	GBP3_ENST00000475853.2_5'UTR	NM_018284.2	NP_060754.2	Q8WXF7	ATLA1_HUMAN	guanylate binding protein 3	136	GB1/RHD3-type G.				axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		TTCTGGCTTTTTGGGGTGAGG	0.483																																						uc001dmt.3																			0				breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26						c.(259-261)aAa>aGa		Homo sapiens guanylate binding protein 3 (GBP3), mRNA.							165.0	156.0	159.0					1																	89481028		2203	4300	6503	SO:0001583	missense	2635					integral to membrane	GTP binding|GTPase activity	g.chr1:89481028T>C	BC063819	CCDS717.2	1p22.2	2008-02-05			ENSG00000117226	ENSG00000117226			4184	protein-coding gene	gene with protein product		600413				7518790	Standard	NM_018284		Approved	FLJ10961	uc001dmt.3	Q9H0R5	OTTHUMG00000010616	ENST00000370481.4:c.260A>G	1.37:g.89481028T>C	ENSP00000359512:p.Lys87Arg					GBP3_uc010oss.2_Missense_Mutation_p.K8R|GBP3_uc001dmu.3_5'UTR|GBP3_uc001dmv.3_Non-coding_Transcript|GBP3_uc021opp.1_Missense_Mutation_p.K87R	p.K87R	NM_018284	NP_060754	Q9H0R5	GBP3_HUMAN		all cancers(265;0.0103)|Epithelial(280;0.0293)	2	465	-		Lung NSC(277;0.123)	87					A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Missense_Mutation	SNP	ENST00000370481.4	37	c.260A>G	CCDS717.2	.	.	.	.	.	.	.	.	.	.	T	2.388	-0.340440	0.05243	.	.	ENSG00000117226	ENST00000370482;ENST00000370481;ENST00000235878	T;T	0.74632	-0.86;-0.86	3.27	0.588	0.17445	Guanylate-binding protein, N-terminal (1);	0.652169	0.15411	N	0.263799	T	0.29458	0.0734	N	0.25201	0.72	0.09310	N	1	B	0.09022	0.002	B	0.15484	0.013	T	0.23762	-1.0179	10	0.14252	T	0.57	.	4.6392	0.12540	0.1865:0.0:0.3825:0.431	.	87	Q9H0R5	GBP3_HUMAN	R	87	ENSP00000359512:K87R;ENSP00000235878:K87R	ENSP00000235878:K87R	K	-	2	0	GBP3	89253616	0.000000	0.05858	0.012000	0.15200	0.730000	0.41778	-0.321000	0.08018	-0.009000	0.14296	0.332000	0.21555	AAA		0.483	GBP3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313541.3	NM_018284	
FAM46C	54855	broad.mit.edu	37	1	118166248	118166248	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:118166248G>A	ENST00000369448.3	+	2	1005	c.758G>A	c.(757-759)cGg>cAg	p.R253Q		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	253								p.R253L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		CTTCTTGTGCGGGACTTCAGG	0.517			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)																												uc021osq.1				Rec	yes		1	1p12	54855	"""Mis, F, O"""	"""family with sequence similarity 46, member C"""			L			MM		1	Substitution - Missense(1)	p.R253L(2)	lung(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(757-759)cGg>cAg		Homo sapiens family with sequence similarity 46, member C (FAM46C), mRNA.							56.0	60.0	59.0					1																	118166248		2203	4300	6503	SO:0001583	missense	54855							g.chr1:118166248G>A	BC036516	CCDS896.1	1p12	2008-02-05			ENSG00000183508	ENSG00000183508			24712	protein-coding gene	gene with protein product		613952				12477932	Standard	NM_017709		Approved	FLJ20202	uc001ehe.3	Q5VWP2	OTTHUMG00000013703	ENST00000369448.3:c.758G>A	1.37:g.118166248G>A	ENSP00000358458:p.Arg253Gln	Multiple Myeloma(3;1.13e-06)				FAM46C_uc001ehe.3_Missense_Mutation_p.R253Q	p.R253Q	NM_017709	NP_060179	Q5VWP2	FA46C_HUMAN		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)	0	758	+	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)	253					A3KMG2|Q8NE25|Q9NXK0	Missense_Mutation	SNP	ENST00000369448.3	37	c.758G>A	CCDS896.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.758718	0.89843	.	.	ENSG00000183508	ENST00000369448	T	0.30714	1.52	5.71	5.71	0.89125	Domain of unknown function DUF1693 (1);	0.000000	0.64402	D	0.000011	T	0.52500	0.1738	M	0.79011	2.435	0.80722	D	1	D	0.71674	0.998	D	0.76575	0.988	T	0.54357	-0.8306	10	0.62326	D	0.03	-14.5245	18.8391	0.92174	0.0:0.0:1.0:0.0	.	253	Q5VWP2	FA46C_HUMAN	Q	253	ENSP00000358458:R253Q	ENSP00000358458:R253Q	R	+	2	0	FAM46C	117967771	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.450000	0.97607	2.697000	0.92050	0.561000	0.74099	CGG		0.517	FAM46C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038424.1	NM_017709	
HRNR	388697	broad.mit.edu	37	1	152192393	152192393	+	Missense_Mutation	SNP	C	C	T	rs375817815		TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:152192393C>T	ENST00000368801.2	-	3	1787	c.1712G>A	c.(1711-1713)cGt>cAt	p.R571H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	571					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.R571H(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATATGGGCCACGGCTTGAAGA	0.592																																						uc001ezt.1																			1	Substitution - Missense(1)	p.R571H(2)|p.S570S(1)	large_intestine(1)	autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(1711-1713)cGt>cAt		Homo sapiens hornerin (HRNR), mRNA.		C	HIS/ARG	0,4406		0,0,2203	178.0	185.0	183.0		1712	-7.4	0.0	1		183	2,8598		0,2,4298	no	missense	HRNR	NM_001009931.1	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	571/2851	152192393	2,13004	2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152192393C>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1712G>A	1.37:g.152192393C>T	ENSP00000357791:p.Arg571His						p.R571H	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1788	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		571					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.1712G>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	9.013	0.982928	0.18889	0.0	2.33E-4	ENSG00000197915	ENST00000368801	T	0.04194	3.68	3.68	-7.37	0.01412	.	.	.	.	.	T	0.00356	0.0011	N	0.08118	0	0.09310	N	1	P	0.48694	0.914	B	0.31016	0.123	T	0.51498	-0.8698	9	0.12766	T	0.61	.	1.3093	0.02094	0.4657:0.1179:0.1168:0.2996	.	571	Q86YZ3	HORN_HUMAN	H	571	ENSP00000357791:R571H	ENSP00000357791:R571H	R	-	2	0	HRNR	150459017	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-10.653000	0.00005	-1.564000	0.01678	-0.282000	0.10007	CGT		0.592	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868	
SPTA1	6708	broad.mit.edu	37	1	158639308	158639308	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:158639308G>A	ENST00000368147.4	-	14	1903	c.1723C>T	c.(1723-1725)Cgt>Tgt	p.R575C		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	575					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGCAATCTACGTCTAGTGGCA	0.448																																						uc001fst.1																			0		p.R575H(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(1723-1725)Cgt>Tgt		Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.							171.0	159.0	163.0					1																	158639308		1939	4145	6084	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158639308G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1723C>T	1.37:g.158639308G>A	ENSP00000357129:p.Arg575Cys						p.R575C	NM_003126	NP_003117	P02549	SPTA1_HUMAN			13	1922	-	all_hematologic(112;0.0378)		575					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.1723C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.464772	0.63513	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.54279	0.58;0.58	4.72	2.73	0.32206	.	0.319683	0.16110	N	0.229160	T	0.65688	0.2715	M	0.85630	2.765	0.41841	D	0.990124	D	0.89917	1.0	D	0.76575	0.988	T	0.70088	-0.4968	10	0.59425	D	0.04	.	12.2276	0.54470	0.0:0.0:0.6804:0.3196	.	575	P02549	SPTA1_HUMAN	C	575	ENSP00000357130:R575C;ENSP00000357129:R575C	ENSP00000357129:R575C	R	-	1	0	SPTA1	156905932	1.000000	0.71417	0.001000	0.08648	0.010000	0.07245	3.869000	0.56062	0.631000	0.30412	0.655000	0.94253	CGT		0.448	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
CFAP45	25790	broad.mit.edu	37	1	159846467	159846467	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:159846467G>A	ENST00000368099.4	-	10	1295	c.1231C>T	c.(1231-1233)Cgg>Tgg	p.R411W	CCDC19_ENST00000426543.2_Missense_Mutation_p.R326W|CCDC19_ENST00000476696.1_5'UTR	NM_012337.2	NP_036469.2														endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			ATCTTCTTCCGCGCATTTTCC	0.577																																						uc001fui.3																			0				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26						c.(1231-1233)Cgg>Tgg		Homo sapiens coiled-coil domain containing 19 (CCDC19), mRNA.							133.0	103.0	114.0					1																	159846467		2203	4300	6503	SO:0001583	missense	25790					mitochondrion|soluble fraction		g.chr1:159846467G>A																												ENST00000368099.4:c.1231C>T	1.37:g.159846467G>A	ENSP00000357079:p.Arg411Trp					CCDC19_uc009wtb.3_Non-coding_Transcript|CCDC19_uc001fuk.3_Missense_Mutation_p.R326W|CCDC19_uc001fuj.3_Non-coding_Transcript|CCDC19_uc009wtc.1_Missense_Mutation_p.A410V	p.R411W	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.151)		9	1249	-	all_hematologic(112;0.0597)		411						Missense_Mutation	SNP	ENST00000368099.4	37	c.1231C>T	CCDS30914.1	.	.	.	.	.	.	.	.	.	.	g	15.94	2.980216	0.53827	.	.	ENSG00000213085	ENST00000368099;ENST00000426543	T;T	0.10477	2.87;2.87	5.16	4.18	0.49190	.	0.524332	0.21595	N	0.072030	T	0.01905	0.0060	N	0.24115	0.695	0.09310	N	1	P	0.46327	0.876	B	0.24541	0.054	T	0.45498	-0.9257	9	.	.	.	-30.5358	12.4987	0.55944	0.0:0.0:0.8324:0.1676	.	411	Q9UL16	CCD19_HUMAN	W	411;326	ENSP00000357079:R411W;ENSP00000403044:R326W	.	R	-	1	2	CCDC19	158113091	0.442000	0.25633	0.943000	0.38184	0.328000	0.28507	1.638000	0.37165	2.571000	0.86741	0.486000	0.48141	CGG		0.577	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085979.1		
ANGEL2	90806	broad.mit.edu	37	1	213178541	213178541	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:213178541G>A	ENST00000366962.3	-	5	1122	c.968C>T	c.(967-969)aCg>aTg	p.T323M	ANGEL2_ENST00000540642.1_Missense_Mutation_p.T197M|ANGEL2_ENST00000535388.1_Missense_Mutation_p.T154M|ANGEL2_ENST00000360506.2_Missense_Mutation_p.T154M|ANGEL2_ENST00000473303.1_5'Flank|ANGEL2_ENST00000544555.1_Missense_Mutation_p.T154M	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	323										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		TGCCAATTGCGTCAGCTTAAT	0.453																																						uc001hjz.3																			0		p.T323T(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24						c.(967-969)aCg>aTg		Homo sapiens angel homolog 2 (Drosophila) (ANGEL2), mRNA.							132.0	115.0	121.0					1																	213178541		2203	4300	6503	SO:0001583	missense	90806							g.chr1:213178541G>A	AL079275	CCDS1512.1, CCDS73027.1	1q32.3	2014-06-17			ENSG00000174606	ENSG00000174606			30534	protein-coding gene	gene with protein product						11943475	Standard	XM_005273344		Approved	KIAA0759L, FLJ12793, Ccr4d	uc001hjz.3	Q5VTE6	OTTHUMG00000036927	ENST00000366962.3:c.968C>T	1.37:g.213178541G>A	ENSP00000355929:p.Thr323Met					ANGEL2_uc010pto.2_Missense_Mutation_p.T197M|ANGEL2_uc010ptp.2_Missense_Mutation_p.T197M|ANGEL2_uc001hka.3_Missense_Mutation_p.T154M|ANGEL2_uc010ptq.2_Non-coding_Transcript	p.T323M	NM_144567	NP_653168	Q5VTE6	ANGE2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)	4	1123	-			323					B7Z2U4|D3DTA3|Q86X13|Q8NHH3	Missense_Mutation	SNP	ENST00000366962.3	37	c.968C>T	CCDS1512.1	.	.	.	.	.	.	.	.	.	.	G	32	5.114747	0.94339	.	.	ENSG00000174606	ENST00000366962;ENST00000360506;ENST00000544555;ENST00000540642;ENST00000535388	T;T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38;-1.38	5.61	5.61	0.85477	Endonuclease/exonuclease/phosphatase (2);	0.052600	0.85682	D	0.000000	D	0.82879	0.5133	N	0.17474	0.49	0.54753	D	0.999988	D;D	0.89917	0.996;1.0	P;D	0.67725	0.781;0.953	D	0.85614	0.1260	10	0.72032	D	0.01	-13.1179	19.6436	0.95767	0.0:0.0:1.0:0.0	.	197;323	F5H476;Q5VTE6	.;ANGE2_HUMAN	M	323;154;154;197;154	ENSP00000355929:T323M;ENSP00000353696:T154M;ENSP00000443193:T154M;ENSP00000446124:T197M;ENSP00000438141:T154M	ENSP00000353696:T154M	T	-	2	0	ANGEL2	211245164	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.357000	0.97099	2.621000	0.88768	0.650000	0.86243	ACG		0.453	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089693.1	NM_144567	
USH2A	7399	broad.mit.edu	37	1	216143995	216143995	+	Missense_Mutation	SNP	G	G	A	rs151057466	byFrequency	TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:216143995G>A	ENST00000307340.3	-	36	7315	c.6929C>T	c.(6928-6930)aCg>aTg	p.T2310M	USH2A_ENST00000366943.2_Missense_Mutation_p.T2310M	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2310	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.T2310M(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACCTTTGGCCGTGCATGCTTG	0.408										HNSCC(13;0.011)			G|||	3	0.000599042	0.0008	0.0014	5008	,	,		19229	0.0		0.001	False		,,,				2504	0.0					uc001hku.1																			1	Substitution - Missense(1)	p.T2310M(2)|p.T2310T(1)	haematopoietic_and_lymphoid_tissue(1)	NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(6928-6930)aCg>aTg		Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	93.0	88.0	90.0		6929	5.8	1.0	1	dbSNP_134	90	0,8600		0,0,4300	yes	missense	USH2A	NM_206933.2	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	2310/5203	216143995	1,13005	2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216143995G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.6929C>T	1.37:g.216143995G>A	ENSP00000305941:p.Thr2310Met	HNSCC(13;0.011)					p.T2310M	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	35	7316	-			2310			Fibronectin type-III 9.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.6929C>T	CCDS31025.1	3	0.0013736263736263737	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	21.0	4.081963	0.76528	2.27E-4	0.0	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.58940	0.3;0.3	5.81	5.81	0.92471	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.45361	D	0.000370	D	0.84884	0.5571	H	0.96430	3.82	0.58432	D	0.999995	D	0.89917	1.0	D	0.87578	0.998	D	0.88933	0.3374	10	0.87932	D	0	.	20.0912	0.97820	0.0:0.0:1.0:0.0	.	2310	O75445	USH2A_HUMAN	M	2310	ENSP00000305941:T2310M;ENSP00000355910:T2310M	ENSP00000305941:T2310M	T	-	2	0	USH2A	214210618	1.000000	0.71417	0.962000	0.40283	0.737000	0.42083	4.936000	0.63506	2.746000	0.94184	0.591000	0.81541	ACG		0.408	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
LYST	1130	broad.mit.edu	37	1	235940405	235940405	+	Silent	SNP	G	G	A	rs146990900		TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:235940405G>A	ENST00000389794.3	-	17	5592	c.5418C>T	c.(5416-5418)caC>caT	p.H1806H	LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Silent_p.H1806H			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1806					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CACCAATTTCGTGCAGAATGC	0.348																																						uc001hxj.2																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(5416-5418)caC>caT		Homo sapiens lysosomal trafficking regulator (LYST), mRNA.		G		0,4406		0,0,2203	104.0	108.0	107.0		5418	-11.0	0.6	1	dbSNP_134	107	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LYST	NM_000081.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1806/3802	235940405	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235940405G>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.5418C>T	1.37:g.235940405G>A						LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript	p.H1806H	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		16	5593	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	1806					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	ENST00000389794.3	37	c.5418C>T	CCDS31062.1																																																																																				0.348	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5		
PLXDC2	84898	broad.mit.edu	37	10	20466312	20466312	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr10:20466312C>G	ENST00000377252.4	+	9	1876	c.1035C>G	c.(1033-1035)aaC>aaG	p.N345K	PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Missense_Mutation_p.N296K	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	345	PSI.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TTGGCTTCAACTGCAGTTGGT	0.313																																						uc001iqg.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						c.(1033-1035)aaC>aaG		Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.							130.0	117.0	121.0					10																	20466312		2203	4300	6503	SO:0001583	missense	84898					integral to membrane		g.chr10:20466312C>G	AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"""tumor endothelial marker 7-related precursor"""	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.1035C>G	10.37:g.20466312C>G	ENSP00000366460:p.Asn345Lys					PLXDC2_uc001iqh.1_Missense_Mutation_p.N296K|PLXDC2_uc009xkc.1_Non-coding_Transcript	p.N345K	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN			8	1672	+			345			PSI.		Q96E59|Q96PD9|Q96SU9	Missense_Mutation	SNP	ENST00000377252.4	37	c.1035C>G	CCDS7132.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964120	0.74131	.	.	ENSG00000120594	ENST00000377252;ENST00000377242;ENST00000377238;ENST00000536022	T;T	0.16597	2.33;2.33	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.24236	0.0587	L	0.40543	1.245	0.80722	D	1	P;P	0.38827	0.649;0.537	B;P	0.46975	0.322;0.533	T	0.01051	-1.1468	10	0.33141	T	0.24	.	17.604	0.88033	0.0:1.0:0.0:0.0	.	296;345	Q6UX71-2;Q6UX71	.;PXDC2_HUMAN	K	345;296;208;331	ENSP00000366460:N345K;ENSP00000366450:N296K	ENSP00000366446:N208K	N	+	3	2	PLXDC2	20506318	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.388000	0.66249	2.440000	0.82611	0.650000	0.86243	AAC		0.313	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047101.2	NM_032812	
OR4X2	119764	broad.mit.edu	37	11	48266683	48266683	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr11:48266683T>C	ENST00000302329.3	+	1	76	c.28T>C	c.(28-30)Tct>Cct	p.S10P		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TCTGGTACTTTCTCCCAACCA	0.423																																						uc001ngs.1																			0				breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(28-30)Tct>Cct		Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA.							171.0	142.0	152.0					11																	48266683		2201	4298	6499	SO:0001583	missense	119764				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48266683T>C	AB065847	CCDS31486.1	11p11.2	2012-08-09			ENSG00000172208	ENSG00000172208		"""GPCR / Class A : Olfactory receptors"""	15184	protein-coding gene	gene with protein product							Standard	NM_001004727		Approved		uc001ngs.1	Q8NGF9	OTTHUMG00000165302	ENST00000302329.3:c.28T>C	11.37:g.48266683T>C	ENSP00000307751:p.Ser10Pro						p.S10P	NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN			0	28	+			10					B2RNK3|Q6IF73|Q96R63	Missense_Mutation	SNP	ENST00000302329.3	37	c.28T>C	CCDS31486.1	.	.	.	.	.	.	.	.	.	.	T	15.16	2.750272	0.49257	.	.	ENSG00000172208	ENST00000302329	T	0.00495	6.99	5.17	5.17	0.71159	.	0.000000	0.51477	D	0.000083	T	0.01061	0.0035	L	0.51914	1.62	0.28633	N	0.90757	D	0.63046	0.992	P	0.60682	0.878	T	0.46456	-0.9190	10	0.87932	D	0	.	11.4108	0.49925	0.0:0.0:0.0:1.0	.	10	Q8NGF9	OR4X2_HUMAN	P	10	ENSP00000307751:S10P	ENSP00000307751:S10P	S	+	1	0	OR4X2	48223259	0.000000	0.05858	0.838000	0.33150	0.170000	0.22686	0.142000	0.16096	1.935000	0.56089	0.528000	0.53228	TCT		0.423	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383376.2	NM_001004727	
LRRC55	219527	broad.mit.edu	37	11	56950158	56950158	+	Splice_Site	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr11:56950158G>A	ENST00000497933.1	+	1	937		c.e1+1			NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55						ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						TGTACAGCAGGTAATAGAGGG	0.587																																						uc001njl.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						c.e1+1		Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.							55.0	52.0	53.0					11																	56950158		2201	4296	6497	SO:0001630	splice_region_variant	219527					integral to membrane		g.chr11:56950158G>A		CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.790+1G>A	11.37:g.56950158G>A							p.D264_splice	NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN			1	937	+			234			LRRCT.		A7E2U7|B2RN81	Splice_Site	SNP	ENST00000497933.1	37	c.790_splice	CCDS31539.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.141723	0.37825	.	.	ENSG00000183908	ENST00000497933	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3896	0.83531	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LRRC55	56706734	1.000000	0.71417	0.996000	0.52242	0.354000	0.29330	6.795000	0.75140	2.608000	0.88229	0.561000	0.74099	.		0.587	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354503.2	NM_001005210	Intron
APLNR	187	broad.mit.edu	37	11	57003536	57003536	+	Missense_Mutation	SNP	G	G	A	rs137997556		TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr11:57003536G>A	ENST00000606794.1	-	1	1139	c.943C>T	c.(943-945)Cgc>Tgc	p.R315C		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	315					G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation (GO:0007369)|heart development (GO:0007507)|regulation of body fluid levels (GO:0050878)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)	p.R315C(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TGGCGGAAGCGGGGGTCGAAA	0.587																																						uc001njo.3																			1	Substitution - Missense(1)	p.R315C(2)	endometrium(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(943-945)Cgc>Tgc		Homo sapiens apelin receptor (APLNR), transcript variant 1, mRNA.							89.0	51.0	64.0					11																	57003536		2201	4296	6497	SO:0001583	missense	187					integral to plasma membrane	G-protein coupled receptor activity	g.chr11:57003536G>A	U03642	CCDS7950.1	11q12.1	2012-08-08	2008-05-12	2008-05-12	ENSG00000134817	ENSG00000134817			339	protein-coding gene	gene with protein product	"""APJ (apelin) receptor"""	600052	"""angiotensin II receptor-like 1"""	AGTRL1		8294032, 14622440	Standard	NM_005161		Approved	FLJ90771, APJ, APJR	uc001njo.3	P35414	OTTHUMG00000167021	ENST00000606794.1:c.943C>T	11.37:g.57003536G>A	ENSP00000475344:p.Arg315Cys					APLNR_uc001njn.4_Non-coding_Transcript	p.R315C	NM_005161	NP_005152	P35414	APJ_HUMAN			0	1392	-			315						Missense_Mutation	SNP	ENST00000606794.1	37	c.943C>T	CCDS7950.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.462700	0.63513	.	.	ENSG00000134817	ENST00000257254;ENST00000326830;ENST00000444275	T	0.38560	1.13	5.46	5.46	0.80206	.	0.127696	0.53938	D	0.000048	T	0.44829	0.1312	N	0.14661	0.345	0.48288	D	0.999623	D	0.89917	1.0	D	0.63192	0.912	T	0.49818	-0.8899	10	0.72032	D	0.01	-28.5714	13.8271	0.63357	0.0:0.0:0.8468:0.1532	.	315	P35414	APJ_HUMAN	C	315;196;234	ENSP00000257254:R315C	ENSP00000257254:R315C	R	-	1	0	APLNR	56760112	1.000000	0.71417	0.995000	0.50966	0.955000	0.61496	5.546000	0.67243	2.551000	0.86045	0.655000	0.94253	CGC		0.587	APLNR-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470575.1	NM_005161	
SMTNL1	219537	broad.mit.edu	37	11	57310651	57310651	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr11:57310651C>T	ENST00000399154.2	+	1	536	c.536C>T	c.(535-537)aCa>aTa	p.T179I	SMTNL1_ENST00000457912.1_Missense_Mutation_p.T197I|SMTNL1_ENST00000527972.1_Missense_Mutation_p.T179I			A8MU46	SMTL1_HUMAN	smoothelin-like 1	179	Glu-rich.				negative regulation of vasodilation (GO:0045908)|positive regulation of vasoconstriction (GO:0045907)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						CAGGAGGAGACAGGCCAGAGG	0.547																																						uc021qjh.1																			0				endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						c.(535-537)aCa>aTa		Homo sapiens smoothelin-like 1 (SMTNL1), mRNA.							49.0	53.0	51.0					11																	57310651		2090	4216	6306	SO:0001583	missense	219537							g.chr11:57310651C>T	BX116227		11q12.1	2006-02-02				ENSG00000214872			32394	protein-coding gene	gene with protein product	"""calponin homology-associated smooth muscle protein"""	613664				15327999	Standard	NM_001105565		Approved	CHASM	uc021qjh.1	A8MU46		ENST00000399154.2:c.536C>T	11.37:g.57310651C>T	ENSP00000382108:p.Thr179Ile						p.T179I	NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN			0	538	+			179						Missense_Mutation	SNP	ENST00000399154.2	37	c.536C>T		.	.	.	.	.	.	.	.	.	.	C	7.547	0.661882	0.14645	.	.	ENSG00000214872	ENST00000457912;ENST00000527972;ENST00000399154	T;T;T	0.02763	4.17;4.17;4.24	3.56	-7.12	0.01537	.	1.595290	0.05188	U	0.502618	T	0.01835	0.0058	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46830	-0.9163	10	0.49607	T	0.09	.	3.527	0.07762	0.2451:0.4477:0.2036:0.1036	.	197	C9J621	.	I	197;179;179	ENSP00000406485:T197I;ENSP00000432651:T179I;ENSP00000382108:T179I	ENSP00000382108:T179I	T	+	2	0	SMTNL1	57067227	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.487000	0.02310	-1.486000	0.01851	-2.265000	0.00278	ACA		0.547	SMTNL1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_166203	
CD248	57124	broad.mit.edu	37	11	66082764	66082764	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr11:66082764C>T	ENST00000311330.3	-	1	1751	c.1735G>A	c.(1735-1737)Gcc>Acc	p.A579T	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	579	Pro-rich.				anatomical structure regression (GO:0060033)|cell migration (GO:0016477)|lymph node development (GO:0048535)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						AGCTGGGTGGCCTGGGTTCTG	0.612																																						uc001ohm.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						c.(1735-1737)Gcc>Acc		Homo sapiens CD248 molecule, endosialin (CD248), mRNA.	Cefalotin(DB00456)						123.0	136.0	131.0					11																	66082764		2200	4295	6495	SO:0001583	missense	57124					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding	g.chr11:66082764C>T	AF279142	CCDS8134.1	11q13	2006-04-12	2006-03-28	2005-02-11	ENSG00000174807	ENSG00000174807		"""CD molecules"""	18219	protein-coding gene	gene with protein product	"""endosialin"", ""tumor endothelial marker 1"""	606064	"""CD164 sialomucin-like 1"", ""CD248 antigen, endosialin"""	CD164L1		10947988, 11084048	Standard	NM_020404		Approved	TEM1	uc001ohm.1	Q9HCU0	OTTHUMG00000167073	ENST00000311330.3:c.1735G>A	11.37:g.66082764C>T	ENSP00000308117:p.Ala579Thr						p.A579T	NM_020404	NP_065137	Q9HCU0	CD248_HUMAN			0	1752	-			579			Pro-rich.		Q2M2V5|Q3SX55|Q96KB6	Missense_Mutation	SNP	ENST00000311330.3	37	c.1735G>A	CCDS8134.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.442504	0.43326	.	.	ENSG00000174807	ENST00000311330	D	0.87729	-2.29	4.41	-1.49	0.08718	.	.	.	.	.	T	0.77896	0.4199	L	0.43152	1.355	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.63440	-0.6637	9	0.44086	T	0.13	-4.899	2.895	0.05688	0.1344:0.4602:0.2664:0.139	.	579	Q9HCU0	CD248_HUMAN	T	579	ENSP00000308117:A579T	ENSP00000308117:A579T	A	-	1	0	CD248	65839340	0.035000	0.19736	0.085000	0.20634	0.277000	0.26821	0.206000	0.17375	0.072000	0.16694	0.460000	0.39030	GCC		0.612	CD248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392922.2	NM_020404	
C12orf57	113246	broad.mit.edu	37	12	7054965	7054965	+	Silent	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr12:7054965C>T	ENST00000229281.5	+	3	360	c.261C>T	c.(259-261)tcC>tcT	p.S87S	C12orf57_ENST00000542222.1_3'UTR|C12orf57_ENST00000540506.2_Silent_p.S52S|RNU7-1_ENST00000458811.1_RNA|PTPN6_ENST00000399448.1_5'Flank|PTPN6_ENST00000447931.2_5'Flank|U47924.31_ENST00000607421.1_RNA|C12orf57_ENST00000537087.1_Silent_p.S58S	NM_138425.2	NP_612434.1	Q99622	C10_HUMAN	chromosome 12 open reading frame 57	87						cytoplasm (GO:0005737)				kidney(1)|large_intestine(1)	2						TGGTCAAGTCCTACGAAGCCC	0.602																																						uc001qrz.3																			0				kidney(1)|large_intestine(1)	2						c.(259-261)tcC>tcT		Homo sapiens chromosome 12 open reading frame 57 (C12orf57), mRNA.							99.0	76.0	84.0					12																	7054965		2203	4300	6503	SO:0001819	synonymous_variant	113246							g.chr12:7054965C>T	U47924	CCDS8571.1	12p13.31	2012-05-30			ENSG00000111678	ENSG00000111678			29521	protein-coding gene	gene with protein product		615140				9445485	Standard	NM_138425		Approved	GRCC10, C10	uc009zfj.2	Q99622	OTTHUMG00000169017	ENST00000229281.5:c.261C>T	12.37:g.7054965C>T						PTPN6_uc001qsa.1_5'Flank|PTPN6_uc010sfr.1_5'Flank	p.S87S	NM_138425	NP_612434	Q99622	C10_HUMAN			2	343	+			87					B2R4Q6	Silent	SNP	ENST00000229281.5	37	c.261C>T	CCDS8571.1																																																																																				0.602	C12orf57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401959.1	NM_138425	
ACSM4	341392	broad.mit.edu	37	12	7469737	7469737	+	Missense_Mutation	SNP	G	G	A	rs139422294		TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr12:7469737G>A	ENST00000399422.4	+	4	673	c.625G>A	c.(625-627)Gcc>Acc	p.A209T		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	209					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)			endometrium(6)|kidney(1)|lung(14)	21						TTGCAGATTCGCCTCTGAAGA	0.483													G|||	11	0.00219649	0.0	0.0	5008	,	,		-128	0.0089		0.0	False		,,,				2504	0.002					uc001qsx.1																			0		p.F208F(1)		endometrium(6)|kidney(1)|lung(14)	21						c.(625-627)Gcc>Acc		Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.		G	THR/ALA	0,4108		0,0,2054	61.0	63.0	63.0		625	2.8	0.4	12	dbSNP_134	63	1,8405		0,1,4202	yes	missense	ACSM4	NM_001080454.1	58	0,1,6256	AA,AG,GG		0.0119,0.0,0.0080	benign	209/581	7469737	1,12513	2054	4203	6257	SO:0001583	missense	341392				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr12:7469737G>A		CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"""Acyl-CoA synthetase family"""	32016	protein-coding gene	gene with protein product	"""similar to olfactory specific medium-chain acyl CoA synthetase"""	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.625G>A	12.37:g.7469737G>A	ENSP00000382349:p.Ala209Thr						p.A209T	NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN			3	625	+			209					A8MTI6	Missense_Mutation	SNP	ENST00000399422.4	37	c.625G>A	CCDS44825.1	7	0.003205128205128205	0	0.0	0	0.0	7	0.012237762237762238	0	0.0	G	15.05	2.718871	0.48622	0.0	1.19E-4	ENSG00000215009	ENST00000399422	T	0.40225	1.04	3.73	2.8	0.32819	AMP-dependent synthetase/ligase (1);	0.191696	0.24894	U	0.034748	T	0.34774	0.0909	M	0.77486	2.375	0.29564	N	0.850381	P	0.47034	0.889	B	0.40940	0.344	T	0.48736	-0.9009	10	0.66056	D	0.02	-12.5095	10.2238	0.43214	0.0:0.0:0.7998:0.2002	.	209	P0C7M7	ACSM4_HUMAN	T	209	ENSP00000382349:A209T	ENSP00000382349:A209T	A	+	1	0	ACSM4	7361004	0.007000	0.16637	0.430000	0.26722	0.490000	0.33462	1.309000	0.33539	0.863000	0.35553	0.491000	0.48974	GCC		0.483	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337866.2	NM_001080454	
TM7SF3	51768	broad.mit.edu	37	12	27127064	27127064	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr12:27127064G>A	ENST00000343028.4	-	12	1772	c.1547C>T	c.(1546-1548)cCa>cTa	p.P516L	RP11-421F16.3_ENST00000500632.1_RNA	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	516						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					TAACTTGTATGGGTGGGGAGG	0.493																																						uc010sjl.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(1546-1548)cCa>cTa		Homo sapiens transmembrane 7 superfamily member 3 (TM7SF3), mRNA.							116.0	105.0	109.0					12																	27127064		2203	4300	6503	SO:0001583	missense	51768					integral to membrane|plasma membrane		g.chr12:27127064G>A	AB032470	CCDS8710.1	12q11-q12	2012-08-10			ENSG00000064115	ENSG00000064115			23049	protein-coding gene	gene with protein product		605181				10828615	Standard	NM_016551		Approved		uc010sjl.2	Q9NS93	OTTHUMG00000169243	ENST00000343028.4:c.1547C>T	12.37:g.27127064G>A	ENSP00000342322:p.Pro516Leu						p.P516L	NM_016551	NP_057635	Q9NS93	TM7S3_HUMAN			11	1785	-	Colorectal(261;0.0847)		516					B3KMZ3|Q9NUS4	Missense_Mutation	SNP	ENST00000343028.4	37	c.1547C>T	CCDS8710.1	.	.	.	.	.	.	.	.	.	.	G	34	5.314083	0.95655	.	.	ENSG00000064115	ENST00000343028	T	0.34859	1.34	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.52125	0.1715	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.52109	-0.8619	10	0.72032	D	0.01	-18.3817	19.9662	0.97271	0.0:0.0:1.0:0.0	.	516	Q9NS93	TM7S3_HUMAN	L	516	ENSP00000342322:P516L	ENSP00000342322:P516L	P	-	2	0	TM7SF3	27018331	1.000000	0.71417	0.968000	0.41197	0.951000	0.60555	9.417000	0.97391	2.793000	0.96121	0.655000	0.94253	CCA		0.493	TM7SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403033.1	NM_016551	
DIP2B	57609	broad.mit.edu	37	12	51122397	51122397	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr12:51122397C>T	ENST00000301180.5	+	30	3611	c.3577C>T	c.(3577-3579)Cgg>Tgg	p.R1193W		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1193						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						GTACTCTTCTCGGCAGATCGC	0.532																																						uc001rwv.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						c.(3577-3579)Cgg>Tgg		Homo sapiens DIP2 disco-interacting protein 2 homolog B (Drosophila) (DIP2B), mRNA.							139.0	111.0	120.0					12																	51122397		2203	4300	6503	SO:0001583	missense	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51122397C>T	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.3577C>T	12.37:g.51122397C>T	ENSP00000301180:p.Arg1193Trp					DIP2B_uc009zlt.3_Missense_Mutation_p.R623W	p.R1193W	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN			29	3733	+			1193					Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	ENST00000301180.5	37	c.3577C>T	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683005	0.88542	.	.	ENSG00000066084	ENST00000301180	T	0.10763	2.84	4.63	4.63	0.57726	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.37156	0.0993	M	0.81112	2.525	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.29852	-0.9998	10	0.87932	D	0	-14.2819	18.0704	0.89404	0.0:1.0:0.0:0.0	.	1193	Q9P265	DIP2B_HUMAN	W	1193	ENSP00000301180:R1193W	ENSP00000301180:R1193W	R	+	1	2	DIP2B	49408664	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	3.807000	0.55591	2.585000	0.87301	0.655000	0.94253	CGG		0.532	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602	
ACACB	32	broad.mit.edu	37	12	109680275	109680275	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr12:109680275C>G	ENST00000338432.7	+	37	5175	c.5056C>G	c.(5056-5058)Ccc>Gcc	p.P1686A	ACACB_ENST00000543201.1_Missense_Mutation_p.P352A|ACACB_ENST00000377854.5_Missense_Mutation_p.P1616A|ACACB_ENST00000377848.3_Missense_Mutation_p.P1686A			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1686					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	CAAGCAAGGGCCCCAGCACGG	0.522																																						uc001tob.3																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(5056-5058)Ccc>Gcc		Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	Biotin(DB00121)						108.0	100.0	103.0					12																	109680275		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109680275C>G	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.5056C>G	12.37:g.109680275C>G	ENSP00000341044:p.Pro1686Ala					ACACB_uc001toc.3_Missense_Mutation_p.P1686A|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Missense_Mutation_p.P352A	p.P1686A	NM_001093	NP_001084	O00763	ACACB_HUMAN			36	5175	+			1686					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.5056C>G	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.734513	0.30774	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000543201;ENST00000537347	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	4.95	1.26	0.21427	Acetyl-CoA carboxylase, central domain (1);	0.352416	0.32473	N	0.006053	T	0.30479	0.0766	L	0.33792	1.035	0.29285	N	0.869758	B	0.06786	0.001	B	0.17722	0.019	T	0.24261	-1.0165	10	0.38643	T	0.18	.	11.8569	0.52441	0.1294:0.555:0.3156:0.0	.	1686	O00763	ACACB_HUMAN	A	1686;1686;1616;917;352;11	ENSP00000341044:P1686A;ENSP00000367079:P1686A;ENSP00000367085:P1616A;ENSP00000444075:P352A	ENSP00000341044:P1686A	P	+	1	0	ACACB	108164658	0.453000	0.25721	0.728000	0.30774	0.995000	0.86356	2.609000	0.46317	0.436000	0.26393	0.650000	0.86243	CCC		0.522	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093	
KSR2	283455	broad.mit.edu	37	12	118298128	118298128	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr12:118298128G>A	ENST00000339824.5	-	2	1016	c.289C>T	c.(289-291)Cga>Tga	p.R97*	KSR2_ENST00000425217.1_Nonsense_Mutation_p.R68*			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	97					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCGACGATTCGGAACCAGTGC	0.627																																						uc001two.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(202-204)Cga>Tga		Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.							60.0	64.0	63.0					12																	118298128		1568	3582	5150	SO:0001587	stop_gained	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:118298128G>A	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.289C>T	12.37:g.118298128G>A	ENSP00000339952:p.Arg97*						p.R68*	NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN			1	257	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		97					A0PJT2|Q3B828|Q8N775	Nonsense_Mutation	SNP	ENST00000339824.5	37	c.202C>T		.	.	.	.	.	.	.	.	.	.	G	36	5.735242	0.96865	.	.	ENSG00000171435	ENST00000425217;ENST00000339824	.	.	.	5.06	3.06	0.35304	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	12.0377	0.53435	0.0:0.0:0.572:0.428	.	.	.	.	X	68;97	.	ENSP00000339952:R97X	R	-	1	2	KSR2	116782511	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	4.633000	0.61318	1.232000	0.43678	0.313000	0.20887	CGA		0.627	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598	
RBM25	58517	broad.mit.edu	37	14	73569957	73569957	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr14:73569957C>T	ENST00000261973.7	+	10	1210	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W	RBM25_ENST00000527432.1_Missense_Mutation_p.R309W	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	309	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		tgagaaagaacggagagaaag	0.428																																						uc010ttu.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31						c.(925-927)Cgg>Tgg		Homo sapiens RNA binding motif protein 25 (RBM25), mRNA.							86.0	75.0	79.0					14																	73569957		2203	4300	6503	SO:0001583	missense	58517				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding	g.chr14:73569957C>T	BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"""RNA binding motif (RRM) containing"""	23244	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 94"""	612427	"""RNA-binding region (RNP1, RRM) containing 7"""	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.925C>T	14.37:g.73569957C>T	ENSP00000261973:p.Arg309Trp					RBM25_uc001xno.3_Missense_Mutation_p.R309W|RBM25_uc001xnp.3_Missense_Mutation_p.R104W	p.R309W	NM_021239	NP_067062	P49756	RBM25_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)	10	1201	+			309			Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.		A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Missense_Mutation	SNP	ENST00000261973.7	37	c.925C>T	CCDS32113.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.517611	0.44763	.	.	ENSG00000119707	ENST00000261973;ENST00000527432	T;T	0.43294	0.95;0.95	5.35	5.35	0.76521	.	0.174450	0.50627	D	0.000107	T	0.60483	0.2272	L	0.55481	1.735	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	T	0.61744	-0.7000	10	0.72032	D	0.01	.	17.208	0.86923	0.0:1.0:0.0:0.0	.	309	P49756	RBM25_HUMAN	W	309	ENSP00000261973:R309W;ENSP00000431150:R309W	ENSP00000261973:R309W	R	+	1	2	RBM25	72639710	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.875000	0.48491	2.665000	0.90641	0.591000	0.81541	CGG		0.428	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330	
MKRN3	7681	broad.mit.edu	37	15	23811493	23811493	+	Silent	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr15:23811493C>T	ENST00000314520.3	+	1	1040	c.564C>T	c.(562-564)gaC>gaT	p.D188D	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	188					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		ACAATGCAGACCGTGGAGCTG	0.617																																						uc001ywh.4																			0		p.A187A(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(562-564)gaC>gaT		Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.							35.0	40.0	38.0					15																	23811493		2203	4300	6503	SO:0001819	synonymous_variant	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23811493C>T	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.564C>T	15.37:g.23811493C>T						MKRN3_uc001ywi.3_Intron|MKRN3_uc010ayi.1_Silent_p.D188D	p.D188D	NM_005664	NP_005655	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	0	1040	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	188						Silent	SNP	ENST00000314520.3	37	c.564C>T	CCDS10013.1																																																																																				0.617	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664	
GABRA5	2558	broad.mit.edu	37	15	27193227	27193227	+	Silent	SNP	T	T	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr15:27193227T>A	ENST00000335625.5	+	11	2124	c.1236T>A	c.(1234-1236)acT>acA	p.T412T	GABRA5_ENST00000355395.5_Silent_p.T412T|GABRA5_ENST00000400081.3_Silent_p.T412T	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	412					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	AAGAGAAGACTTCTGAAAGCA	0.453																																						uc001zbd.2																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49						c.(1234-1236)acT>acA		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 5 (GABRA5), transcript variant 1, mRNA.	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						47.0	45.0	45.0					15																	27193227		1851	4096	5947	SO:0001819	synonymous_variant	2558				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27193227T>A		CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.1236T>A	15.37:g.27193227T>A						GABRA5_uc021sgi.1_Silent_p.T412T|GABRA5_uc001zbe.1_Non-coding_Transcript	p.T412T	NM_000810	NP_001158509	P31644	GBRA5_HUMAN		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	10	1768	+		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	412					A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Silent	SNP	ENST00000335625.5	37	c.1236T>A	CCDS45194.1																																																																																				0.453	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1		
HERC2	8924	broad.mit.edu	37	15	28518115	28518115	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr15:28518115delC	ENST00000261609.7	-	8	944	c.836delG	c.(835-837)ggafs	p.G279fs		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.G279V(1)|p.G279fs*25(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GGGGATGCTTCCTGGCCCTTT	0.592																																						uc001zbj.3																			2	Substitution - Missense(1)|Deletion - Frameshift(1)	p.G279V(2)|p.G279fs*25(2)	autonomic_ganglia(1)|breast(1)	NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(835-837)ggafs		Homo sapiens hect domain and RLD 2 (HERC2), mRNA.							50.0	48.0	49.0					15																	28518115		2203	4300	6503	SO:0001589	frameshift_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28518115delC	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.836delG	15.37:g.28518115delC	ENSP00000261609:p.Gly279fs					HERC2_uc001zbl.1_5'UTR	p.G279fs	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	7	942	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	279						Frame_Shift_Del	DEL	ENST00000261609.7	37	c.836delG	CCDS10021.1																																																																																				0.592	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667	
DNAJA4	55466	broad.mit.edu	37	15	78567950	78567950	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr15:78567950C>G	ENST00000394852.3	+	5	947	c.757C>G	c.(757-759)Cag>Gag	p.Q253E	DNAJA4_ENST00000446172.2_Missense_Mutation_p.Q226E|DNAJA4_ENST00000343789.3_Missense_Mutation_p.Q253E|DNAJA4_ENST00000394855.3_Missense_Mutation_p.Q282E	NM_001130182.1	NP_001123654.1	Q8WW22	DNJA4_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 4	253					negative regulation of inclusion body assembly (GO:0090084)|protein refolding (GO:0042026)|response to heat (GO:0009408)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						TAGTGTCTTTCAGAGACGAGG	0.413																																						uc002bdi.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						c.(844-846)Cag>Gag		Homo sapiens DnaJ (Hsp40) homolog, subfamily A, member 4 (DNAJA4), transcript variant 1, mRNA.							137.0	120.0	126.0					15																	78567950		2196	4293	6489	SO:0001583	missense	55466				protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding	g.chr15:78567950C>G	AF116663	CCDS10299.2, CCDS45316.1, CCDS45317.1	15q24.1	2011-09-02			ENSG00000140403	ENSG00000140403		"""Heat shock proteins / DNAJ (HSP40)"""	14885	protein-coding gene	gene with protein product						11147971	Standard	NM_018602		Approved	PRO1472	uc002bdi.3	Q8WW22	OTTHUMG00000143733	ENST00000394852.3:c.757C>G	15.37:g.78567950C>G	ENSP00000378321:p.Gln253Glu					DNAJA4_uc002bdj.2_Missense_Mutation_p.Q253E|DNAJA4_uc002bdk.3_Missense_Mutation_p.Q226E|DNAJA4_uc002bdm.2_Missense_Mutation_p.Q37E	p.Q282E	NM_018602	NP_001123654	Q8WW22	DNJA4_HUMAN			5	1013	+			253					E9PDM9|Q6AW87|Q8N5Z4|Q8N7P2	Missense_Mutation	SNP	ENST00000394852.3	37	c.844C>G	CCDS45316.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.931364	0.52866	.	.	ENSG00000140403	ENST00000394855;ENST00000343789;ENST00000394852;ENST00000446172	T;T;T;T	0.39229	1.09;1.09;1.09;1.09	5.63	5.63	0.86233	HSP40/DnaJ peptide-binding (1);	0.000000	0.85682	D	0.000000	T	0.34077	0.0885	N	0.21448	0.665	0.58432	D	0.999994	B;B;B	0.28350	0.208;0.024;0.09	B;B;B	0.28916	0.065;0.028;0.096	T	0.07712	-1.0758	10	0.36615	T	0.2	-13.1154	18.6978	0.91607	0.0:1.0:0.0:0.0	.	226;253;282	E9PDM9;Q8WW22;Q8WW22-2	.;DNJA4_HUMAN;.	E	282;253;253;226	ENSP00000378324:Q282E;ENSP00000339581:Q253E;ENSP00000378321:Q253E;ENSP00000413499:Q226E	ENSP00000339581:Q253E	Q	+	1	0	DNAJA4	76355005	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.631000	0.54280	2.652000	0.90054	0.655000	0.94253	CAG		0.413	DNAJA4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289801.1	NM_018602	
LRRC28	123355	broad.mit.edu	37	15	99901711	99901711	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr15:99901711T>A	ENST00000301981.3	+	8	1106	c.866T>A	c.(865-867)cTg>cAg	p.L289Q	LRRC28_ENST00000558879.1_Intron|LRRC28_ENST00000442993.2_3'UTR|LRRC28_ENST00000331450.5_Intron|LRRC28_ENST00000447360.2_Missense_Mutation_p.L289Q|LRRC28_ENST00000422500.2_Missense_Mutation_p.L220Q	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	289										endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			CACAGCTTGCTGAAAGGTACG	0.458											OREG0023509	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002bva.1																			0				endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12						c.(865-867)cTg>cAg		Homo sapiens leucine rich repeat containing 28 (LRRC28), mRNA.							167.0	143.0	151.0					15																	99901711		2197	4297	6494	SO:0001583	missense	123355							g.chr15:99901711T>A	AK091588	CCDS10380.1, CCDS66873.1	15q26.3	2004-06-29			ENSG00000168904	ENSG00000168904			28355	protein-coding gene	gene with protein product						12975309	Standard	XM_005254861		Approved	MGC24976, FLJ34269, FLJ45242	uc002bva.1	Q86X40	OTTHUMG00000149854	ENST00000301981.3:c.866T>A	15.37:g.99901711T>A	ENSP00000304923:p.Leu289Gln		OREG0023509	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1347	LRRC28_uc010urs.1_Non-coding_Transcript|LRRC28_uc002bvb.1_Missense_Mutation_p.L135Q|LRRC28_uc010urt.1_Missense_Mutation_p.L103Q|LRRC28_uc002bvc.1_Missense_Mutation_p.L289Q|LRRC28_uc010uru.1_Missense_Mutation_p.L220Q|LRRC28_uc002bvd.1_Intron	p.L289Q	NM_144598	NP_653199	Q86X40	LRC28_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00106)		7	1021	+	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		289					A8KA22|Q6UY49|Q6ZSS6	Missense_Mutation	SNP	ENST00000301981.3	37	c.866T>A	CCDS10380.1	.	.	.	.	.	.	.	.	.	.	T	13.51	2.258074	0.39896	.	.	ENSG00000168904	ENST00000301981;ENST00000447360;ENST00000422500	T;T;T	0.48201	0.97;0.82;1.46	5.25	-0.188	0.13264	.	0.691487	0.14660	N	0.306013	T	0.37348	0.1000	L	0.44542	1.39	0.09310	N	1	B;B;B	0.32526	0.057;0.374;0.036	B;B;B	0.26770	0.024;0.073;0.023	T	0.16541	-1.0399	10	0.54805	T	0.06	.	13.8439	0.63455	0.0:0.0:0.5088:0.4912	.	220;289;289	B4DHL3;Q86X40-2;Q86X40	.;.;LRC28_HUMAN	Q	289;289;220	ENSP00000304923:L289Q;ENSP00000404520:L289Q;ENSP00000398606:L220Q	ENSP00000304923:L289Q	L	+	2	0	LRRC28	97719234	0.001000	0.12720	0.000000	0.03702	0.114000	0.19823	0.776000	0.26704	-0.206000	0.10203	0.533000	0.62120	CTG		0.458	LRRC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313546.1	NM_144598	
RBBP6	5930	broad.mit.edu	37	16	24583037	24583037	+	Silent	SNP	T	T	C			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr16:24583037T>C	ENST00000319715.4	+	18	5082	c.4650T>C	c.(4648-4650)gaT>gaC	p.D1550D	RBBP6_ENST00000381039.3_Silent_p.D710D|RBBP6_ENST00000348022.2_Silent_p.D1516D	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1550					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CCACTTATGATACTAAACGGC	0.363																																						uc002dmh.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46						c.(4648-4650)gaT>gaC		Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.							60.0	56.0	57.0					16																	24583037		2197	4300	6497	SO:0001819	synonymous_variant	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24583037T>C		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.4650T>C	16.37:g.24583037T>C						RBBP6_uc002dmi.3_Silent_p.D1516D|RBBP6_uc010bxr.3_Silent_p.D710D|RBBP6_uc002dmk.3_Silent_p.D1383D	p.D1550D	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	17	5690	+			1550					Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Silent	SNP	ENST00000319715.4	37	c.4650T>C	CCDS10621.1																																																																																				0.363	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910	
PITPNA	5306	broad.mit.edu	37	17	1456417	1456417	+	Silent	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr17:1456417C>T	ENST00000313486.7	-	3	333	c.78G>A	c.(76-78)gtG>gtA	p.V26V	PITPNA_ENST00000539476.1_Silent_p.V26V	NM_006224.3	NP_006215.1	Q00169	PIPNA_HUMAN	phosphatidylinositol transfer protein, alpha	26					axon guidance (GO:0007411)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)|phosphatidylcholine transporter activity (GO:0008525)|phosphatidylinositol transporter activity (GO:0008526)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.0845)		TGGCCTCAGCCACAGAATACA	0.512																																						uc021tng.1																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7						c.(76-78)gtG>gtA		Homo sapiens phosphatidylinositol transfer protein, alpha (PITPNA), mRNA.							102.0	104.0	103.0					17																	1456417		2053	4201	6254	SO:0001819	synonymous_variant	5306				axon guidance|lipid metabolic process|visual perception	cytoplasm	phosphatidylcholine transmembrane transporter activity|phosphatidylinositol transporter activity|protein binding	g.chr17:1456417C>T	M73704	CCDS45563.1	17p13.3	2012-06-29	2003-05-09	2004-09-03	ENSG00000174238	ENSG00000174238			9001	protein-coding gene	gene with protein product		600174	"""phosphotidylinositol transfer protein"""	PITPN		8255295	Standard	NM_006224		Approved	VIB1A	uc021tnf.1	Q00169	OTTHUMG00000177779	ENST00000313486.7:c.78G>A	17.37:g.1456417C>T						PITPNA_uc021tnf.1_5'UTR|PITPNA_uc010cjt.3_5'UTR|PITPNA_uc010vqn.1_Non-coding_Transcript	p.V26V	NM_006224	NP_006215	Q00169	PIPNA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0845)	2	334	-			26						Silent	SNP	ENST00000313486.7	37	c.78G>A	CCDS45563.1																																																																																				0.512	PITPNA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438927.3		
DVL2	1856	broad.mit.edu	37	17	7134114	7134114	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr17:7134114A>C	ENST00000005340.5	-	2	479	c.197T>G	c.(196-198)gTg>gGg	p.V66G	DVL2_ENST00000574642.1_5'Flank|DVL2_ENST00000575458.1_Missense_Mutation_p.V66G	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	66	DIX. {ECO:0000255|PROSITE- ProRule:PRU00069}.				canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|identical protein binding (GO:0042802)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						TTCCTTCACCACCCTGCCAAG	0.577																																						uc002gez.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						c.(196-198)gTg>gGg		Homo sapiens dishevelled, dsh homolog 2 (Drosophila) (DVL2), mRNA.							122.0	110.0	114.0					17																	7134114		2203	4300	6503	SO:0001583	missense	1856				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity	g.chr17:7134114A>C	BC014844	CCDS11091.1	17p13.1	2013-05-22	2013-05-22		ENSG00000004975	ENSG00000004975		"""Dishevelled homologs"""	3086	protein-coding gene	gene with protein product		602151	"""dishevelled 2 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 2 (Drosophila)"""			8662242	Standard	NM_004422		Approved		uc002gez.1	O14641	OTTHUMG00000102155	ENST00000005340.5:c.197T>G	17.37:g.7134114A>C	ENSP00000005340:p.Val66Gly					DVL2_uc010vtr.1_Missense_Mutation_p.V66G|DVL2_uc010vts.1_5'Flank|DVL2_uc010clz.1_Missense_Mutation_p.V66G	p.V66G	NM_004422	NP_004413	O14641	DVL2_HUMAN			1	479	-			66			DIX.		D3DTN3|Q53XM0	Missense_Mutation	SNP	ENST00000005340.5	37	c.197T>G	CCDS11091.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.193350	0.78902	.	.	ENSG00000004975	ENST00000005340	T	0.49432	0.78	4.69	4.69	0.59074	DIX (3);	0.000000	0.64402	D	0.000001	T	0.73760	0.3628	M	0.93978	3.48	0.80722	D	1	D;D;D	0.76494	0.999;0.991;0.996	D;D;D	0.81914	0.995;0.951;0.983	T	0.79926	-0.1597	10	0.87932	D	0	-20.1717	10.4569	0.44557	1.0:0.0:0.0:0.0	.	66;66;66	B4DLQ0;B4E2D6;O14641	.;.;DVL2_HUMAN	G	66	ENSP00000005340:V66G	ENSP00000005340:V66G	V	-	2	0	DVL2	7074838	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	8.729000	0.91490	1.979000	0.57680	0.496000	0.49642	GTG		0.577	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2	NM_004422	
SLC47A1	55244	broad.mit.edu	37	17	19459334	19459334	+	Missense_Mutation	SNP	G	G	A	rs563267554	byFrequency	TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr17:19459334G>A	ENST00000270570.4	+	10	966	c.880G>A	c.(880-882)Gct>Act	p.A294T	SLC47A1_ENST00000571335.1_Missense_Mutation_p.A99T|SLC47A1_ENST00000457293.1_Missense_Mutation_p.A294T|SLC47A1_ENST00000542886.1_3'UTR|SLC47A1_ENST00000436810.2_Missense_Mutation_p.A271T|SNORA59B_ENST00000458926.1_RNA|SLC47A1_ENST00000395585.1_Missense_Mutation_p.A294T|SLC47A1_ENST00000575023.1_Intron	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	294					organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	GGAGCTGGGCGCTCAGTCCAT	0.582													G|||	2	0.000399361	0.0	0.0	5008	,	,		18387	0.0		0.0	False		,,,				2504	0.002					uc002gvx.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(880-882)Gct>Act		Homo sapiens solute carrier family 47, member 1 (SLC47A1), mRNA.							85.0	74.0	78.0					17																	19459334		2203	4300	6503	SO:0001583	missense	55244					integral to membrane|plasma membrane	drug:hydrogen antiporter activity	g.chr17:19459334G>A		CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"""Solute carriers"""	25588	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 1"""	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.880G>A	17.37:g.19459334G>A	ENSP00000270570:p.Ala294Thr					SLC47A1_uc010vyy.1_Non-coding_Transcript|SLC47A1_uc002gvy.1_Missense_Mutation_p.A294T|SLC47A1_uc010vyz.1_Missense_Mutation_p.A271T|SLC47A1_uc010cqp.1_Intron|SLC47A1_uc010cqq.1_Missense_Mutation_p.A99T|SLC47A1_uc010vza.1_Missense_Mutation_p.A6T|SLC47A1_uc010vzb.1_Missense_Mutation_p.A28T|SLC47A1_uc010vzc.1_5'UTR|SNORA59B_uc002gvz.1_5'Flank	p.A294T	NM_018242	NP_060712	Q96FL8	S47A1_HUMAN			9	966	+	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)		294					Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Missense_Mutation	SNP	ENST00000270570.4	37	c.880G>A	CCDS11209.1	.	.	.	.	.	.	.	.	.	.	G	32	5.168533	0.94768	.	.	ENSG00000142494	ENST00000436810;ENST00000270570;ENST00000457293;ENST00000395585;ENST00000455670;ENST00000424755	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	5.54	5.54	0.83059	.	0.047729	0.85682	D	0.000000	T	0.69223	0.3087	M	0.77820	2.39	0.80722	D	1	P;D;P;D;D	0.71674	0.945;0.998;0.937;0.995;0.994	P;P;P;D;P	0.64321	0.547;0.899;0.792;0.924;0.837	T	0.72727	-0.4206	10	0.72032	D	0.01	-9.4597	18.4824	0.90817	0.0:0.0:1.0:0.0	.	28;271;28;294;294	E7ENC3;E7EX57;B4DDH5;Q96FL8;Q96FL8-3	.;.;.;S47A1_HUMAN;.	T	271;294;294;294;28;6	ENSP00000407155:A271T;ENSP00000270570:A294T;ENSP00000415586:A294T;ENSP00000378951:A294T	ENSP00000270570:A294T	A	+	1	0	SLC47A1	19399926	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	4.953000	0.63624	2.602000	0.87976	0.655000	0.94253	GCT		0.582	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132250.1	NM_018242	
KSR1	8844	broad.mit.edu	37	17	25909866	25909866	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr17:25909866C>T	ENST00000319524.6	+	4	715	c.715C>T	c.(715-717)Ccc>Tcc	p.P239S	KSR1_ENST00000509603.2_Missense_Mutation_p.P239S|KSR1_ENST00000268763.6_Missense_Mutation_p.P102S|KSR1_ENST00000398988.3_Missense_Mutation_p.P102S			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	239					Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CTCAGACTCCCCCACCCCCAG	0.706																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)	uc010crg.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28						c.(304-306)Ccc>Tcc		Homo sapiens kinase suppressor of ras 1 (KSR1), mRNA.							21.0	28.0	25.0					17																	25909866		2077	4208	6285	SO:0001583	missense	8844				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:25909866C>T	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"""kinase suppressor of ras"""	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.715C>T	17.37:g.25909866C>T	ENSP00000323178:p.Pro239Ser					KSR1_uc002gzj.1_Intron	p.P102S	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	4	749	+	Lung NSC(42;0.00836)		237					F8WEA9|H7BYU0|Q13476	Missense_Mutation	SNP	ENST00000319524.6	37	c.304C>T		.	.	.	.	.	.	.	.	.	.	C	3.910	-0.020272	0.07634	.	.	ENSG00000141068	ENST00000319524;ENST00000509603;ENST00000268763;ENST00000398982	T;T;T	0.00450	7.36;7.36;7.36	5.17	3.16	0.36331	.	0.979293	0.08418	N	0.948763	T	0.00328	0.0010	L	0.31752	0.955	0.09310	N	0.999992	B	0.24258	0.1	B	0.26770	0.073	T	0.44174	-0.9345	10	0.51188	T	0.08	.	6.3721	0.21487	0.0:0.6712:0.1666:0.1621	.	237	Q8IVT5	KSR1_HUMAN	S	239;239;102;102	ENSP00000323178:P239S;ENSP00000438795:P239S;ENSP00000268763:P102S	ENSP00000268763:P102S	P	+	1	0	KSR1	22933993	0.000000	0.05858	0.154000	0.22540	0.032000	0.12392	0.007000	0.13174	0.739000	0.32628	0.455000	0.32223	CCC		0.706	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238	
NF1	4763	broad.mit.edu	37	17	29654793	29654793	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr17:29654793G>A	ENST00000358273.4	+	38	5928	c.5545G>A	c.(5545-5547)Gat>Aat	p.D1849N	NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Missense_Mutation_p.D1828N	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1849					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)|p.D1849N(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCGGCCAAAAGATGTCCCTGG	0.468			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.3			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(3)|Substitution - Missense(1)	p.0?(8)|p.?(3)|p.D1849N(2)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(5545-5547)Gat>Aat		Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.							107.0	108.0	108.0					17																	29654793		2203	4300	6503	SO:0001583	missense	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29654793G>A		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.5545G>A	17.37:g.29654793G>A	ENSP00000351015:p.Asp1849Asn	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.3_Missense_Mutation_p.D1828N|NF1_uc002hgi.1_Missense_Mutation_p.D861N|NF1_uc010cso.3_Missense_Mutation_p.D37N	p.D1849N	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	37	5928	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1849					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.5545G>A	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	34	5.401956	0.96030	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.65549	1.34;-0.16;1.34	5.8	5.8	0.92144	Armadillo-type fold (2);	0.000000	0.85682	D	0.000000	D	0.83008	0.5161	M	0.88906	2.99	0.80722	D	1	D;D;D	0.89917	1.0;0.996;0.999	D;D;D	0.79784	0.989;0.987;0.993	D	0.84428	0.0575	10	0.52906	T	0.07	.	19.049	0.93034	0.0:0.0:1.0:0.0	.	878;1828;1849	Q59FX3;P21359-2;P21359	.;.;NF1_HUMAN	N	1849;1828;1494	ENSP00000351015:D1849N;ENSP00000348498:D1828N;ENSP00000389907:D1494N	ENSP00000348498:D1828N	D	+	1	0	NF1	26678919	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.434000	0.97515	2.733000	0.93635	0.650000	0.86243	GAT		0.468	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
CALCOCO2	10241	broad.mit.edu	37	17	46937756	46937756	+	Silent	SNP	A	A	G			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr17:46937756A>G	ENST00000258947.3	+	11	1190	c.1089A>G	c.(1087-1089)tcA>tcG	p.S363S	CALCOCO2_ENST00000509507.1_Silent_p.S384S|CALCOCO2_ENST00000416445.2_Silent_p.S321S|CALCOCO2_ENST00000448105.2_Silent_p.S387S|CALCOCO2_ENST00000508679.1_Silent_p.S291S	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	363					response to interferon-gamma (GO:0034341)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						TACCTACTTCAGATGAAGGAG	0.438																																						uc010wlr.2																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						c.(1159-1161)tcA>tcG		Homo sapiens calcium binding and coiled-coil domain 2 (CALCOCO2), mRNA.							125.0	120.0	122.0					17																	46937756		2203	4300	6503	SO:0001819	synonymous_variant	10241				response to interferon-gamma|viral reproduction	cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity	g.chr17:46937756A>G	BC004130	CCDS11538.1, CCDS58558.1, CCDS58559.1, CCDS58560.1, CCDS58561.1	17q21.32	2006-02-09				ENSG00000136436			29912	protein-coding gene	gene with protein product		604587				7540613	Standard	NM_001261390		Approved	MGC17318, NDP52	uc010wlr.3	Q13137		ENST00000258947.3:c.1089A>G	17.37:g.46937756A>G						CALCOCO2_uc010wlq.2_Silent_p.S291S|CALCOCO2_uc010wls.2_Silent_p.S321S|CALCOCO2_uc002iof.3_Silent_p.S363S|CALCOCO2_uc010wlp.2_Silent_p.S384S	p.S387S	NM_005831	NP_005822	Q13137	CACO2_HUMAN			11	1240	+			363					B2RBT0|B4DDC4|B4DDT4|B4DP36|B4E0C0|E7ENK0|E7ETP5|E9PBE5|Q53FQ5|Q53HB5|Q6IBN9|Q9BTF7	Silent	SNP	ENST00000258947.3	37	c.1161A>G	CCDS11538.1																																																																																				0.438	CALCOCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360866.1	NM_005831	
ACE	1636	broad.mit.edu	37	17	61560492	61560492	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr17:61560492G>A	ENST00000290866.4	+	9	1469	c.1445G>A	c.(1444-1446)cGt>cAt	p.R482H	ACE_ENST00000490216.2_5'Flank|ACE_ENST00000428043.1_Missense_Mutation_p.R482H|ACE_ENST00000290863.6_5'Flank|ACE_ENST00000421982.2_5'Flank|ACE_ENST00000413513.3_5'Flank|ACE_ENST00000538928.1_Intron|ACE_ENST00000584529.1_Intron|ACE_ENST00000577647.1_5'Flank	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	482	Peptidase M2 1.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TTTAGTGGGCGTACCCCCCCT	0.552																																						uc002jau.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(1444-1446)cGt>cAt		Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)						127.0	136.0	133.0					17																	61560492		2203	4300	6503	SO:0001583	missense	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61560492G>A	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.1445G>A	17.37:g.61560492G>A	ENSP00000290866:p.Arg482His					ACE_uc010wpi.2_Intron|ACE_uc010ddu.2_Missense_Mutation_p.R299H|ACE_uc010wpj.2_5'Flank|ACE_uc010ddv.2_5'Flank|ACE_uc002jav.2_5'Flank|ACE_uc002jaw.2_5'Flank|ACE_uc010wpk.2_5'Flank	p.R482H	NM_000789	NP_000780	P12821	ACE_HUMAN			8	1479	+			482			Peptidase M2 1.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	c.1445G>A	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	G	6.325	0.428020	0.11987	.	.	ENSG00000159640	ENST00000290866;ENST00000428043	T;T	0.33654	1.4;1.4	4.87	-0.844	0.10741	.	0.317473	0.31963	N	0.006785	T	0.22437	0.0541	L	0.49571	1.57	0.09310	N	1	B;B	0.32573	0.011;0.376	B;B	0.11329	0.001;0.006	T	0.10753	-1.0616	10	0.52906	T	0.07	-2.4434	5.7134	0.17946	0.2786:0.0:0.5968:0.1245	.	482;482	P12821-2;P12821	.;ACE_HUMAN	H	482	ENSP00000290866:R482H;ENSP00000397593:R482H	ENSP00000290866:R482H	R	+	2	0	ACE	58914224	0.000000	0.05858	0.021000	0.16686	0.005000	0.04900	0.532000	0.23067	0.027000	0.15297	-0.258000	0.10820	CGT		0.552	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2		
SLC38A10	124565	broad.mit.edu	37	17	79220094	79220094	+	Silent	SNP	G	G	C			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr17:79220094G>C	ENST00000374759.3	-	16	3005	c.2622C>G	c.(2620-2622)ctC>ctG	p.L874L		NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	874					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			ATTCCTCTGCGAGGCGCTCCT	0.657																																						uc002jzz.1																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(2620-2622)ctC>ctG		Homo sapiens solute carrier family 38, member 10 (SLC38A10), transcript variant 1, mRNA.							66.0	71.0	69.0					17																	79220094		1849	4077	5926	SO:0001819	synonymous_variant	124565				amino acid transport|sodium ion transport	integral to membrane		g.chr17:79220094G>C	BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"""Solute carriers"""	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.2622C>G	17.37:g.79220094G>C						SLC38A10_uc002jzy.1_Silent_p.L792L|SLC38A10_uc021uey.1_5'UTR	p.L874L	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		15	2997	-	all_neural(118;0.0804)|Melanoma(429;0.242)		874					Q6ZRC5|Q8NA99|Q96C66	Silent	SNP	ENST00000374759.3	37	c.2622C>G	CCDS42397.1																																																																																				0.657	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570	
DLGAP1	9229	broad.mit.edu	37	18	3534543	3534543	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr18:3534543delG	ENST00000315677.3	-	10	2723	c.2128delC	c.(2128-2130)ctgfs	p.L710fs	DLGAP1_ENST00000515196.2_Frame_Shift_Del_p.L710fs|DLGAP1_ENST00000584874.1_Frame_Shift_Del_p.L710fs|DLGAP1_ENST00000534970.1_Frame_Shift_Del_p.L394fs|DLGAP1_ENST00000539435.1_Frame_Shift_Del_p.L418fs|DLGAP1_ENST00000400150.3_Frame_Shift_Del_p.L426fs|DLGAP1_ENST00000400149.3_Frame_Shift_Del_p.L400fs|DLGAP1_ENST00000400147.2_Frame_Shift_Del_p.L408fs|DLGAP1_ENST00000581699.1_Frame_Shift_Del_p.L416fs|DLGAP1_ENST00000400145.2_Frame_Shift_Del_p.L408fs|DLGAP1_ENST00000400155.1_Frame_Shift_Del_p.L416fs|DLGAP1_ENST00000581527.1_Frame_Shift_Del_p.L710fs	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	710					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GAATTTTCCAGATTATCATGG	0.498																																						uc002kmf.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56						c.(2128-2130)ctgfs		Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA.							50.0	51.0	50.0					18																	3534543		2203	4300	6503	SO:0001589	frameshift_variant	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3534543delG	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.2128delC	18.37:g.3534543delG	ENSP00000316377:p.Leu710fs					DLGAP1_uc010wyz.2_Frame_Shift_Del_p.L710fs|DLGAP1_uc010dkn.3_Frame_Shift_Del_p.L418fs|DLGAP1_uc002kme.2_Frame_Shift_Del_p.L408fs|DLGAP1_uc010wyw.2_Frame_Shift_Del_p.L416fs|DLGAP1_uc010wyx.2_Frame_Shift_Del_p.L432fs|DLGAP1_uc010wyy.2_Frame_Shift_Del_p.L394fs|DLGAP1_uc002kmg.3_Frame_Shift_Del_p.L408fs	p.L710fs	NM_004746	NP_004737	O14490	DLGP1_HUMAN			9	2655	-		Colorectal(8;0.0257)	710					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Frame_Shift_Del	DEL	ENST00000315677.3	37	c.2128delC	CCDS11836.1																																																																																				0.498	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4		
NAPG	8774	broad.mit.edu	37	18	10548993	10548993	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr18:10548993G>A	ENST00000322897.6	+	11	764	c.695G>A	c.(694-696)tGt>tAt	p.C232Y	NAPG_ENST00000542979.1_Missense_Mutation_p.C150Y	NM_003826.2	NP_003817.1	Q99747	SNAG_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, gamma	232					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)				large_intestine(2)|lung(2)	4						AGTGAAGACTGTGCTGCCCTG	0.473																																						uc002kon.3																			0				large_intestine(2)|lung(2)	4						c.(694-696)tGt>tAt		Homo sapiens N-ethylmaleimide-sensitive factor attachment protein, gamma (NAPG), mRNA.							140.0	141.0	140.0					18																	10548993		2060	4210	6270	SO:0001583	missense	8774				cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization	membrane|membrane fraction|mitochondrion	protein binding	g.chr18:10548993G>A	U78107	CCDS45827.1	18p11.21	2013-02-28			ENSG00000134265	ENSG00000134265			7642	protein-coding gene	gene with protein product	"""gamma SNAP"""	603216				9269766	Standard	NM_003826		Approved		uc002kon.3	Q99747	OTTHUMG00000179119	ENST00000322897.6:c.695G>A	18.37:g.10548993G>A	ENSP00000324628:p.Cys232Tyr					NAPG_uc010wzr.2_Missense_Mutation_p.C150Y|NAPG_uc002kop.3_Missense_Mutation_p.C145Y	p.C232Y	NM_003826	NP_003817	Q99747	SNAG_HUMAN			10	922	+			232					B4DFC9|Q9BUV1	Missense_Mutation	SNP	ENST00000322897.6	37	c.695G>A	CCDS45827.1	.	.	.	.	.	.	.	.	.	.	G	7.253	0.603597	0.14002	.	.	ENSG00000134265	ENST00000322897;ENST00000542979	T;T	0.74842	-0.88;-0.88	5.65	5.65	0.86999	Tetratricopeptide-like helical (1);	0.039843	0.85682	D	0.000000	T	0.67135	0.2861	L	0.50333	1.59	0.80722	D	1	B	0.24092	0.097	B	0.14023	0.01	T	0.64706	-0.6344	10	0.02654	T	1	-6.6117	19.7244	0.96157	0.0:0.0:1.0:0.0	.	232	Q99747	SNAG_HUMAN	Y	232;150	ENSP00000324628:C232Y;ENSP00000442849:C150Y	ENSP00000324628:C232Y	C	+	2	0	NAPG	10538993	1.000000	0.71417	0.980000	0.43619	0.183000	0.23260	6.185000	0.72013	2.659000	0.90383	0.655000	0.94253	TGT		0.473	NAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444873.1	NM_003826	
MUC16	94025	broad.mit.edu	37	19	9048365	9048365	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr19:9048365G>T	ENST00000397910.4	-	5	33469	c.33266C>A	c.(33265-33267)aCt>aAt	p.T11089N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11091	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGTGAAACAGTTGGAGTTGG	0.488																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(33265-33267)aCt>aAt		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							80.0	72.0	74.0					19																	9048365		1919	4134	6053	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9048365G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.33266C>A	19.37:g.9048365G>T	ENSP00000381008:p.Thr11089Asn						p.T11089N	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			4	33470	-			11091			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.33266C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	5.952	0.359679	0.11239	.	.	ENSG00000181143	ENST00000397910	T	0.02525	4.26	3.05	-2.01	0.07410	.	.	.	.	.	T	0.03695	0.0105	L	0.53249	1.67	.	.	.	P	0.45827	0.867	P	0.44477	0.451	T	0.31447	-0.9943	8	0.87932	D	0	.	2.9224	0.05773	0.3642:0.0:0.4393:0.1965	.	11089	B5ME49	.	N	11089	ENSP00000381008:T11089N	ENSP00000381008:T11089N	T	-	2	0	MUC16	8909365	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.252000	0.08806	-0.275000	0.09219	0.431000	0.28591	ACT		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
NFIX	4784	broad.mit.edu	37	19	13201118	13201118	+	Missense_Mutation	SNP	G	G	A	rs372257657		TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr19:13201118G>A	ENST00000592199.1	+	10	1408	c.1408G>A	c.(1408-1410)Gca>Aca	p.A470T	NFIX_ENST00000587260.1_Silent_p.S419S|NFIX_ENST00000587760.1_Silent_p.S412S|NFIX_ENST00000360105.4_Silent_p.S382S|NFIX_ENST00000397661.2_Silent_p.S420S|NFIX_ENST00000358552.3_Missense_Mutation_p.A428T|NFIX_ENST00000588228.1_Missense_Mutation_p.A423T|NFIX_ENST00000585575.1_Missense_Mutation_p.A462T			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	470					astrocyte differentiation (GO:0048708)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell layer development (GO:0021680)|DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			CACAGCATTCGCAACGACAGG	0.642																																						uc010xmx.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11						c.(1432-1434)Gca>Aca		Homo sapiens nuclear factor I/X (CCAAT-binding transcription factor) (NFIX), mRNA.				1,4009		0,1,2004	90.0	100.0	97.0		1260	2.1	1.0	19		97	0,8312		0,0,4156	no	coding-synonymous	NFIX	NM_002501.2		0,1,6160	AA,AG,GG		0.0,0.0249,0.0081		420/442	13201118	1,12321	2005	4156	6161	SO:0001583	missense	4784				DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:13201118G>A	U18761	CCDS45996.1, CCDS59359.1	19p13.3	2008-02-05				ENSG00000008441			7788	protein-coding gene	gene with protein product		164005				8340106, 7590749	Standard	NM_001271043		Approved	NF1A	uc010xmx.2	Q14938		ENST00000592199.1:c.1408G>A	19.37:g.13201118G>A	ENSP00000467512:p.Ala470Thr					NFIX_uc002mwd.3_Silent_p.S420S|NFIX_uc002mwe.3_Silent_p.S412S|NFIX_uc002mwf.3_Silent_p.S382S|NFIX_uc002mwg.2_Silent_p.S419S	p.A478T			Q14938	NFIX_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)		9	1485	+			470					B4DM25|O60413|Q0VG09|Q12859|Q13050|Q13052|Q5U094|Q9UPH1|Q9Y6R8	Missense_Mutation	SNP	ENST00000592199.1	37	c.1432G>A		.	.	.	.	.	.	.	.	.	.	g	13.98	2.398727	0.42512	2.49E-4	0.0	ENSG00000008441	ENST00000397661;ENST00000358552	T	0.47528	0.84	4.37	2.08	0.27032	.	0.414562	0.24314	N	0.039612	T	0.19167	0.0460	.	.	.	0.25315	N	0.989162	B	0.32071	0.355	B	0.29598	0.104	T	0.18681	-1.0329	9	0.07482	T	0.82	.	4.5781	0.12243	0.1285:0.0:0.4218:0.4498	.	478	B4DHW2	.	T	470;428	ENSP00000351354:A428T	ENSP00000351354:A428T	A	+	1	0	NFIX	13062118	0.875000	0.30112	1.000000	0.80357	0.998000	0.95712	-0.075000	0.11431	0.792000	0.33850	0.558000	0.71614	GCA		0.642	NFIX-013	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000452763.1	NM_002501	
CCDC105	126402	broad.mit.edu	37	19	15132653	15132653	+	Silent	SNP	A	A	G			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr19:15132653A>G	ENST00000292574.3	+	6	1255	c.1173A>G	c.(1171-1173)gaA>gaG	p.E391E		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	391						extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						AGACCGCAGAAAAGCTGGACA	0.647																																						uc002nae.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						c.(1171-1173)gaA>gaG		Homo sapiens coiled-coil domain containing 105 (CCDC105), mRNA.							63.0	71.0	68.0					19																	15132653		2203	4300	6503	SO:0001819	synonymous_variant	126402				microtubule cytoskeleton organization	microtubule		g.chr19:15132653A>G	AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.1173A>G	19.37:g.15132653A>G							p.E391E	NM_173482	NP_775753	Q8IYK2	CC105_HUMAN			5	1272	+			391					Q8N7T5|Q8NDL5	Silent	SNP	ENST00000292574.3	37	c.1173A>G	CCDS12322.1																																																																																				0.647	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466293.1	NM_173482	
CLPTM1	1209	broad.mit.edu	37	19	45494188	45494188	+	Silent	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr19:45494188C>T	ENST00000337392.5	+	11	1554	c.1404C>T	c.(1402-1404)acC>acT	p.T468T	CLPTM1_ENST00000546079.1_Silent_p.T366T|CLPTM1_ENST00000541297.2_Silent_p.T454T	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	468					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		AGTCCTCGACCAAAGTGTATG	0.607																																						uc002pai.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1402-1404)acC>acT		Homo sapiens cleft lip and palate associated transmembrane protein 1 (CLPTM1), transcript variant 2, mRNA.							102.0	81.0	88.0					19																	45494188		2203	4300	6503	SO:0001819	synonymous_variant	1209				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane		g.chr19:45494188C>T	AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853			2087	protein-coding gene	gene with protein product		604783				9828125	Standard	NM_001294		Approved		uc002pai.3	O96005		ENST00000337392.5:c.1404C>T	19.37:g.45494188C>T						CLPTM1_uc010xxf.2_Silent_p.T366T|CLPTM1_uc010xxg.2_Silent_p.T454T|CLPTM1_uc021uvo.1_5'Flank	p.T468T	NM_001294	NP_001285	O96005	CLPT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)	10	1458	+		all_neural(266;0.224)|Ovarian(192;0.231)	468					B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Silent	SNP	ENST00000337392.5	37	c.1404C>T	CCDS12651.1																																																																																				0.607	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453267.1	NM_001294	
ERCC1	2067	broad.mit.edu	37	19	45923654	45923654	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr19:45923654T>C	ENST00000300853.3	-	4	944	c.353A>G	c.(352-354)aAt>aGt	p.N118S	ERCC1_ENST00000340192.7_Missense_Mutation_p.N118S|ERCC1_ENST00000591636.1_Missense_Mutation_p.N118S|ERCC1_ENST00000013807.5_Missense_Mutation_p.N118S|ERCC1_ENST00000423698.2_Missense_Mutation_p.N46S|ERCC1_ENST00000589165.1_Missense_Mutation_p.N118S	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN	excision repair cross-complementation group 1	118					cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|male gonad development (GO:0008584)|mitotic recombination (GO:0006312)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|oogenesis (GO:0048477)|post-embryonic hemopoiesis (GO:0035166)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|replicative cell aging (GO:0001302)|response to nutrient (GO:0007584)|response to oxidative stress (GO:0006979)|response to sucrose (GO:0009744)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)|syncytium formation (GO:0006949)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	cytoplasm (GO:0005737)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		CCAGGGCACATTGCGCACGAA	0.597								Nucleotide excision repair (NER)																														uc002pbs.2																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15						c.(352-354)aAt>aGt	Nucleotide excision repair (NER)	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence) (ERCC1), transcript variant 2, mRNA.							110.0	84.0	93.0					19																	45923654		2203	4300	6503	SO:0001583	missense	2067				mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding	g.chr19:45923654T>C		CCDS12662.1, CCDS12663.1, CCDS54279.1	19q13.32	2014-03-07	2014-03-07			ENSG00000012061			3433	protein-coding gene	gene with protein product		126380	"""excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)"""			6462228	Standard	NM_001983		Approved	RAD10	uc002pbs.2	P07992		ENST00000300853.3:c.353A>G	19.37:g.45923654T>C	ENSP00000300853:p.Asn118Ser					ERCC1_uc002pbt.2_Missense_Mutation_p.N118S|ERCC1_uc002pbu.2_Missense_Mutation_p.N46S|ERCC1_uc002pbv.3_Missense_Mutation_p.N118S	p.N118S	NM_001983	NP_001974	P07992	ERCC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0247)	3	499	-		Ovarian(192;0.051)|all_neural(266;0.112)	118					B2RC01|B3KRR0|Q7Z7F5|Q96S40	Missense_Mutation	SNP	ENST00000300853.3	37	c.353A>G	CCDS12662.1	.	.	.	.	.	.	.	.	.	.	T	12.03	1.815198	0.32053	.	.	ENSG00000012061	ENST00000300853;ENST00000340192;ENST00000423698;ENST00000013807	T;T;T;T	0.48201	0.83;0.83;0.84;0.82	5.28	3.15	0.36227	Restriction endonuclease, type II-like (1);	0.149436	0.64402	N	0.000016	T	0.32496	0.0831	L	0.31526	0.94	0.44207	D	0.997039	B;B;B;B	0.16802	0.019;0.001;0.002;0.003	B;B;B;B	0.12837	0.008;0.002;0.003;0.004	T	0.07462	-1.0771	10	0.48119	T	0.1	-17.8635	7.2423	0.26104	0.0:0.1697:0.0:0.8303	.	118;46;118;118	Q7Z7F5;B3KRR0;Q96S40;P07992	.;.;.;ERCC1_HUMAN	S	118;118;46;118	ENSP00000300853:N118S;ENSP00000345203:N118S;ENSP00000394875:N46S;ENSP00000013807:N118S	ENSP00000013807:N118S	N	-	2	0	ERCC1	50615494	0.967000	0.33354	0.614000	0.29051	0.705000	0.40729	1.751000	0.38339	0.318000	0.23185	0.374000	0.22700	AAT		0.597	ERCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459542.1	NM_001983	
PRR12	57479	broad.mit.edu	37	19	50099367	50099367	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr19:50099367C>T	ENST00000418929.2	+	4	1787	c.1775C>T	c.(1774-1776)tCa>tTa	p.S592L		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		TACCTGAGCTCAGTCTTGGCC	0.657																																						uc002poo.4																			0		p.G592V(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11						c.(1774-1776)tCa>tTa		Homo sapiens proline rich 12 (PRR12), mRNA.							37.0	43.0	41.0					19																	50099367		2009	4170	6179	SO:0001583	missense	57479						DNA binding	g.chr19:50099367C>T	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.1775C>T	19.37:g.50099367C>T	ENSP00000394510:p.Ser592Leu						p.S592L	NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	3	1775	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	356			Pro-rich.		E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	37	c.1775C>T	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	C	10.16	1.274117	0.23221	.	.	ENSG00000126464	ENST00000418929	.	.	.	3.95	3.95	0.45737	.	.	.	.	.	T	0.71576	0.3356	.	.	.	0.34676	D	0.724214	D	0.58268	0.982	P	0.60345	0.873	T	0.81856	-0.0740	7	0.72032	D	0.01	.	15.2805	0.73781	0.0:1.0:0.0:0.0	.	592	Q9ULL5-3	.	L	592	.	ENSP00000394510:S592L	S	+	2	0	PRR12	54791179	0.992000	0.36948	0.955000	0.39395	0.549000	0.35272	3.473000	0.53122	2.216000	0.71823	0.455000	0.32223	TCA		0.657	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719	
LENG8	114823	broad.mit.edu	37	19	54968952	54968952	+	Silent	SNP	C	C	A	rs142424676		TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr19:54968952C>A	ENST00000326764.5	+	12	2237	c.1758C>A	c.(1756-1758)gtC>gtA	p.V586V	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	549										breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		TGTGCATGGTCAAGTGCCACT	0.537																																						uc002qfv.1																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(1645-1647)gtC>gtA		Homo sapiens leukocyte receptor cluster (LRC) member 8 (LENG8), mRNA.							122.0	117.0	118.0					19																	54968952		2203	4300	6503	SO:0001819	synonymous_variant	114823						protein binding	g.chr19:54968952C>A	AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.1758C>A	19.37:g.54968952C>A						LENG8_uc002qfw.2_Silent_p.V586V	p.V549V			Q96PV6	LENG8_HUMAN		GBM - Glioblastoma multiforme(193;0.139)	10	1791	+	Ovarian(34;0.19)		549					B0VJY9|Q8IZ27|Q8NCX6	Silent	SNP	ENST00000326764.5	37	c.1647C>A	CCDS12894.1																																																																																				0.537	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	NM_052925	
ZNF552	79818	broad.mit.edu	37	19	58319417	58319417	+	Silent	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr19:58319417C>T	ENST00000391701.1	-	3	1384	c.1215G>A	c.(1213-1215)aaG>aaA	p.K405K	ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000599802.1_Intron	NM_024762.3	NP_079038.2	Q9H707	ZN552_HUMAN	zinc finger protein 552	405					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(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		CTCATAAGCCCTTTCTTTTGT	0.398																																						uc002qqg.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.(1213-1215)aaG>aaA		Homo sapiens zinc finger protein 552 (ZNF552), mRNA.							113.0	111.0	112.0					19																	58319417		2203	4300	6503	SO:0001819	synonymous_variant	79818				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58319417C>T	AK097041	CCDS12963.1	19q13.43	2013-09-20			ENSG00000178935	ENSG00000178935		"""Zinc fingers, C2H2-type"", ""-"""	26135	protein-coding gene	gene with protein product							Standard	XM_005259267		Approved	FLJ21603	uc002qqg.3	Q9H707	OTTHUMG00000183478	ENST00000391701.1:c.1215G>A	19.37:g.58319417C>T						ZNF587_uc002qqb.2_Intron|ZNF552_uc010yhg.2_Silent_p.K401K	p.K405K	NM_024762	NP_079038	Q9H707	ZN552_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)	2	1385	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	405					B3KUE9|Q6P5A6	Silent	SNP	ENST00000391701.1	37	c.1215G>A	CCDS12963.1																																																																																				0.398	ZNF552-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466829.1	NM_024762	
APOB	338	broad.mit.edu	37	2	21249770	21249770	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr2:21249770G>A	ENST00000233242.1	-	15	2261	c.2134C>T	c.(2134-2136)Cca>Tca	p.P712S	APOB_ENST00000399256.4_Missense_Mutation_p.P712S	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	712					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACACTGTCTGGGAAAAATCCT	0.413																																						uc002red.3																			0		p.F711L(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(2134-2136)Cca>Tca		Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	Atorvastatin(DB01076)						111.0	110.0	110.0					2																	21249770		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21249770G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.2134C>T	2.37:g.21249770G>A	ENSP00000233242:p.Pro712Ser						p.P712S	NM_000384	NP_000375	P04114	APOB_HUMAN			14	2262	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		712					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.2134C>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	31	5.061182	0.93846	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	T;T	0.13307	2.6;2.6	5.7	5.7	0.88788	Lipid transport protein, beta-sheet shell (1);Vitellinogen, open beta-sheet (1);	0.068340	0.64402	D	0.000015	T	0.44644	0.1303	M	0.82923	2.615	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.34054	-0.9844	10	0.59425	D	0.04	.	20.2246	0.98337	0.0:0.0:1.0:0.0	.	712	P04114	APOB_HUMAN	S	712	ENSP00000233242:P712S;ENSP00000382200:P712S	ENSP00000233242:P712S	P	-	1	0	APOB	21103275	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.406000	0.97321	2.861000	0.98227	0.655000	0.94253	CCA		0.413	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
MSH6	2956	broad.mit.edu	37	2	48026476	48026476	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr2:48026476A>G	ENST00000234420.5	+	4	1506	c.1354A>G	c.(1354-1356)Atg>Gtg	p.M452V	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Missense_Mutation_p.M150V|MSH6_ENST00000540021.1_Missense_Mutation_p.M322V	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	452					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GCTGGTATTCATGAAAGGCAA	0.453			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													uc002rwd.4			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	"""Mis, N, F, S"""	mutS homolog 6 (E. coli)			E		"""colorectal, endometrial, ovarian"""	colorectal		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229						c.(1354-1356)Atg>Gtg	Mismatch excision repair (MMR)	Homo sapiens mutS homolog 6 (E. coli) (MSH6), mRNA.							82.0	77.0	78.0					2																	48026476		2203	4300	6503	SO:0001583	missense	2956	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	g.chr2:48026476A>G	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.1354A>G	2.37:g.48026476A>G	ENSP00000234420:p.Met452Val					MSH6_uc002rwc.2_Missense_Mutation_p.M452V|MSH6_uc010fbj.3_Missense_Mutation_p.M150V|MSH6_uc010yoj.2_Missense_Mutation_p.M150V	p.M452V	NM_000179	NP_000170	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		3	1506	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	452					B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	ENST00000234420.5	37	c.1354A>G	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	A	15.60	2.881702	0.51908	.	.	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000540021;ENST00000538136	D;D;D	0.88354	-2.37;-2.37;-2.37	5.15	3.97	0.46021	DNA mismatch repair protein MutS, N-terminal (2);DNA mismatch repair protein MutS-like, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95143	0.8426	M	0.92649	3.33	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.94831	0.7996	10	0.66056	D	0.02	-18.021	11.2427	0.48979	0.8627:0.0:0.0:0.1373	.	322;452;452	B4DF41;P52701;P52701-2	.;MSH6_HUMAN;.	V	452;450;322;150	ENSP00000234420:M452V;ENSP00000446475:M322V;ENSP00000438580:M150V	ENSP00000234420:M452V	M	+	1	0	MSH6	47879980	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.307000	0.96226	0.786000	0.33708	0.528000	0.53228	ATG		0.453	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179	
SEMA4F	10505	broad.mit.edu	37	2	74900889	74900889	+	Silent	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr2:74900889G>A	ENST00000357877.2	+	7	905	c.756G>A	c.(754-756)acG>acA	p.T252T	SEMA4F_ENST00000339773.5_Intron	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	252	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						TCTTCTTTACGGAGACTTCCC	0.567																																						uc002sna.1																			0				biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						c.(754-756)acG>acA		Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F (SEMA4F), mRNA.							103.0	108.0	106.0					2																	74900889		2203	4300	6503	SO:0001819	synonymous_variant	10505				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity	g.chr2:74900889G>A	AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"""Semaphorins"""	10734	protein-coding gene	gene with protein product	"""m-Sema M"""	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.756G>A	2.37:g.74900889G>A						SEMA4F_uc010ysb.1_3'UTR|SEMA4F_uc021vjn.1_Silent_p.T252T|SEMA4F_uc010ffq.1_Silent_p.T219T|SEMA4F_uc010ffr.1_Intron|SEMA4F_uc002snb.1_5'UTR|SEMA4F_uc002snc.1_Intron	p.T252T	NM_004263	NP_004254	O95754	SEM4F_HUMAN			6	867	+			252			Sema.		Q542Y7|Q9NS35	Silent	SNP	ENST00000357877.2	37	c.756G>A	CCDS1955.1																																																																																				0.567	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2	NM_004263	
TEKT4	150483	broad.mit.edu	37	2	95539132	95539132	+	Intron	SNP	A	A	G	rs74376788		TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr2:95539132A>G	ENST00000295201.4	+	2	635				AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4						cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						AGCAGAACTTACACAGTCAGA	0.567																																						uc021vlc.1																			0											c.e7+1		Homo sapiens uncharacterized LOC442028 (LOC442028), non-coding RNA.																																				SO:0001627	intron_variant	442028							g.chr2:95539132A>G	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.499-133A>G	2.37:g.95539132A>G						LOC442028_uc002stv.1_Splice_Site|TEKT4_uc002stw.1_Intron|TEKT4_uc010fhr.1_Non-coding_Transcript								7		-									Splice_Site	SNP	ENST00000295201.4	37	c.805_splice	CCDS2005.1																																																																																				0.567	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705	
SDPR	8436	broad.mit.edu	37	2	192711627	192711627	+	Missense_Mutation	SNP	C	C	T	rs563544542		TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr2:192711627C>T	ENST00000304141.4	-	1	354	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K	AC098617.1_ENST00000424116.2_RNA	NM_004657.5	NP_004648.1			serum deprivation response											NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			TGGAACTTTTCGGCCTGTGCA	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		20501	0.0		0.0	False		,,,				2504	0.001					uc002utb.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23						c.(25-27)Gaa>Aaa		Homo sapiens serum deprivation response (SDPR), mRNA.	Phosphatidylserine(DB00144)						58.0	59.0	59.0					2																	192711627		2203	4300	6503	SO:0001583	missense	8436					caveola|cytosol	phosphatidylserine binding|protein binding	g.chr2:192711627C>T	AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"""phosphatidylserine binding protein"""	606728	"""serum deprivation response (phosphatidylserine-binding protein)"", ""serum deprivation response (phosphatidylserine binding protein)"""			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.25G>A	2.37:g.192711627C>T	ENSP00000305675:p.Glu9Lys						p.E9K	NM_004657	NP_004648	O95810	SDPR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0647)		0	380	-			9						Missense_Mutation	SNP	ENST00000304141.4	37	c.25G>A	CCDS2313.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.556625	0.65425	.	.	ENSG00000168497	ENST00000304141	T	0.65364	-0.15	4.61	3.66	0.41972	.	1.081660	0.07082	N	0.837154	T	0.70193	0.3196	L	0.60455	1.87	0.43647	D	0.996052	D	0.61697	0.99	P	0.51297	0.665	T	0.68584	-0.5370	10	0.59425	D	0.04	-10.8382	14.3227	0.66496	0.0:0.8496:0.1503:0.0	.	9	O95810	SDPR_HUMAN	K	9	ENSP00000305675:E9K	ENSP00000305675:E9K	E	-	1	0	SDPR	192419872	0.125000	0.22332	0.599000	0.28851	0.956000	0.61745	3.378000	0.52432	2.554000	0.86153	0.555000	0.69702	GAA		0.612	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334791.2	NM_004657	
SIRPG	55423	broad.mit.edu	37	20	1615912	1615912	+	Splice_Site	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr20:1615912C>T	ENST00000303415.3	-	4	1146		c.e4+1		SIRPG_ENST00000216927.4_Intron|SIRPG_ENST00000381583.2_Intron|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000381580.1_Splice_Site|RP11-77C3.3_ENST00000437384.1_RNA|SIRPG_ENST00000344103.4_Intron	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma						blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						AGTAACCTCACCAGGGGTAGC	0.428																																						uc002wfm.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						c.e4+1		Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA.							48.0	47.0	47.0					20																	1615912		2203	4300	6503	SO:0001630	splice_region_variant	55423				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding	g.chr20:1615912C>T	AB042624	CCDS13020.2, CCDS13021.2, CCDS33434.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000089012	ENSG00000089012		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15757	protein-coding gene	gene with protein product		605466	"""signal-regulatory protein beta 2"""	SIRPB2		11185750, 16339511	Standard	XM_005260749		Approved	bA77C3.1, SIRP-B2, SIRPgamma, CD172g	uc002wfm.1	Q9P1W8	OTTHUMG00000031680	ENST00000303415.3:c.1081+1G>A	20.37:g.1615912C>T						SIRPG_uc002wfn.1_Intron|SIRPG_uc002wfo.1_Intron|AK093519_uc002wfp.1_Intron	p.G361_splice	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN			4	1146	-			361					B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Splice_Site	SNP	ENST00000303415.3	37	c.1081_splice	CCDS13020.2	.	.	.	.	.	.	.	.	.	.	c	5.168	0.216596	0.09810	.	.	ENSG00000089012	ENST00000381580;ENST00000303415	.	.	.	1.6	1.6	0.23607	.	.	.	.	.	.	.	.	.	.	.	0.21553	N	0.999644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.6421	0.22914	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SIRPG	1563912	0.085000	0.21516	0.119000	0.21687	0.050000	0.14768	2.341000	0.43983	1.184000	0.42957	0.195000	0.17529	.		0.428	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077566.2	NM_018556	Intron
TSHZ2	128553	broad.mit.edu	37	20	51872367	51872367	+	Silent	SNP	C	C	T	rs138612067		TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr20:51872367C>T	ENST00000371497.5	+	2	3257	c.2370C>T	c.(2368-2370)caC>caT	p.H790H	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000603338.2_Silent_p.H787H|TSHZ2_ENST00000329613.6_Silent_p.H787H	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	790					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H790H(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CTCAGAAGCACGCTCTGTCTG	0.557																																						uc002xwo.3																			1	Substitution - coding silent(1)	p.H790H(2)	endometrium(1)	NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84						c.(2368-2370)caC>caT		Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.		C	,	1,4405	2.1+/-5.4	0,1,2202	111.0	103.0	106.0		2361,2370	-3.5	1.0	20	dbSNP_134	106	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	TSHZ2	NM_001193421.1,NM_173485.5	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	787/1032,790/1035	51872367	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51872367C>T	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.2370C>T	20.37:g.51872367C>T						TSHZ2_uc021wex.1_Silent_p.H787H	p.H790H	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		1	3257	+			790					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Silent	SNP	ENST00000371497.5	37	c.2370C>T	CCDS33490.1																																																																																				0.557	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485	
ADRM1	11047	broad.mit.edu	37	20	60882680	60882680	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr20:60882680C>T	ENST00000253003.2	+	7	698	c.652C>T	c.(652-654)Ccg>Tcg	p.P218S	LAMA5_ENST00000492698.1_5'Flank|RP11-157P1.4_ENST00000414042.1_RNA	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	218	Ser-rich.				positive regulation of endopeptidase activity (GO:0010950)|proteasome assembly (GO:0043248)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)|protease binding (GO:0002020)|proteasome binding (GO:0070628)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			AGCGGTCACCCCGTCATCCAC	0.701																																						uc002ycn.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5						c.(652-654)Ccg>Tcg		Homo sapiens adhesion regulating molecule 1 (ADRM1), transcript variant 1, mRNA.							36.0	36.0	36.0					20																	60882680		2198	4296	6494	SO:0001583	missense	11047				proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding	g.chr20:60882680C>T	D64154	CCDS13496.1, CCDS74747.1	20q13.33	2008-05-22			ENSG00000130706	ENSG00000130706			15759	protein-coding gene	gene with protein product		610650				8033103	Standard	NM_007002		Approved	GP110, Rpn13, ARM1	uc002yco.3	Q16186	OTTHUMG00000032904	ENST00000253003.2:c.652C>T	20.37:g.60882680C>T	ENSP00000253003:p.Pro218Ser					ADRM1_uc002yco.3_Missense_Mutation_p.P218S	p.P218S	NM_007002	NP_783163	Q16186	ADRM1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.51e-06)		6	732	+	Breast(26;7.76e-09)		218			Ser-rich.		A0PKB1|Q96FJ7|Q9H1P2	Missense_Mutation	SNP	ENST00000253003.2	37	c.652C>T	CCDS13496.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.472532	0.43942	.	.	ENSG00000130706	ENST00000370744;ENST00000253003	.	.	.	5.25	5.25	0.73442	.	0.102132	0.64402	D	0.000002	T	0.50548	0.1622	L	0.42245	1.32	0.80722	D	1	P	0.37083	0.581	B	0.36608	0.229	T	0.46176	-0.9210	9	0.22109	T	0.4	-11.3936	16.6322	0.85037	0.0:1.0:0.0:0.0	.	218	Q16186	ADRM1_HUMAN	S	197;218	.	ENSP00000253003:P218S	P	+	1	0	ADRM1	60316075	0.984000	0.35163	0.659000	0.29680	0.434000	0.31775	5.451000	0.66632	2.451000	0.82905	0.561000	0.74099	CCG		0.701	ADRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080007.1		
OSBP2	23762	broad.mit.edu	37	22	31137177	31137177	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr22:31137177G>A	ENST00000332585.6	+	2	778	c.674G>A	c.(673-675)cGt>cAt	p.R225H	OSBP2_ENST00000407373.1_Missense_Mutation_p.R52H|OSBP2_ENST00000382310.3_Missense_Mutation_p.R225H|OSBP2_ENST00000403222.3_Missense_Mutation_p.R60H|OSBP2_ENST00000446658.2_Missense_Mutation_p.R225H	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	225	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						CACACGTGCCGTGGAACCATC	0.542																																						uc003aiy.1																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						c.(673-675)cGt>cAt		Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA.							49.0	50.0	50.0					22																	31137177		2019	4165	6184	SO:0001583	missense	23762				lipid transport	membrane	lipid binding	g.chr22:31137177G>A		CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.674G>A	22.37:g.31137177G>A	ENSP00000332576:p.Arg225His					OSBP2_uc011ala.1_Missense_Mutation_p.R60H|OSBP2_uc010gwc.1_Missense_Mutation_p.R52H|OSBP2_uc003aix.1_Missense_Mutation_p.R225H|OSBP2_uc011alb.1_Missense_Mutation_p.R225H|OSBP2_uc003aiz.1_Missense_Mutation_p.R225H	p.R225H	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN			1	778	+			225			PH.		B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Missense_Mutation	SNP	ENST00000332585.6	37	c.674G>A	CCDS43002.1	.	.	.	.	.	.	.	.	.	.	G	34	5.313447	0.95655	.	.	ENSG00000184792	ENST00000438716;ENST00000403222;ENST00000407373;ENST00000332585;ENST00000382310;ENST00000446658	T;T;T;T;T	0.76709	-0.66;-0.65;-1.04;-1.04;-1.04	5.38	5.38	0.77491	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.89715	0.6795	M	0.87038	2.855	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.993;0.993;0.993;1.0;1.0	D	0.89669	0.3882	10	0.42905	T	0.14	-22.2454	18.7346	0.91749	0.0:0.0:1.0:0.0	.	225;60;52;225;225	B4DFA8;B4DKE4;Q6ZN50;Q0VF99;Q969R2	.;.;.;.;OSBP2_HUMAN	H	60;60;52;225;225;225	ENSP00000384213:R60H;ENSP00000385237:R52H;ENSP00000332576:R225H;ENSP00000371747:R225H;ENSP00000392080:R225H	ENSP00000332576:R225H	R	+	2	0	OSBP2	29467177	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.869000	0.99810	2.521000	0.84997	0.462000	0.41574	CGT		0.542	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	NM_030758	
EP300	2033	broad.mit.edu	37	22	41564810	41564810	+	Silent	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr22:41564810C>T	ENST00000263253.7	+	25	5330	c.4111C>T	c.(4111-4113)Ctg>Ttg	p.L1371L	RNU6-375P_ENST00000517050.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1371	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|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 type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TGGTGTTGACCTGTGCTTCTT	0.478			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													uc003azl.4				Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(4111-4113)Ctg>Ttg		Homo sapiens E1A binding protein p300 (EP300), mRNA.							222.0	194.0	203.0					22																	41564810		2203	4300	6503	SO:0001819	synonymous_variant	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41564810C>T	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4111C>T	22.37:g.41564810C>T							p.L1371L	NM_001429	NP_001420	Q09472	EP300_HUMAN			24	4506	+			1371					B1AKC2	Silent	SNP	ENST00000263253.7	37	c.4111C>T	CCDS14010.1																																																																																				0.478	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429	
ACAA1	30	broad.mit.edu	37	3	38175476	38175476	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr3:38175476C>T	ENST00000333167.8	-	3	462	c.290G>A	c.(289-291)gGg>gAg	p.G97E	ACAA1_ENST00000301810.7_Missense_Mutation_p.G97E|ACAA1_ENST00000444607.2_Missense_Mutation_p.G97E|ACAA1_ENST00000480865.1_5'Flank|ACAA1_ENST00000450296.1_Missense_Mutation_p.G97E|ACAA1_ENST00000544624.1_5'UTR	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1	97					alpha-linolenic acid metabolic process (GO:0036109)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acetyl-CoA C-acyltransferase activity (GO:0003988)|palmitoyl-CoA oxidase activity (GO:0016401)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		CATGATTGCCCCGGCCCCAGG	0.522																																						uc003cht.3																			0				endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9						c.(289-291)gGg>gAg		Homo sapiens acetyl-CoA acyltransferase 1 (ACAA1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							66.0	68.0	67.0					3																	38175476		2203	4300	6503	SO:0001583	missense	30				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding	g.chr3:38175476C>T	X14813	CCDS2673.1, CCDS46794.1	3p22.2	2012-05-16	2010-04-30		ENSG00000060971	ENSG00000060971	2.3.1.16		82	protein-coding gene	gene with protein product	"""peroxisomal 3-oxoacyl-Coenzyme A thiolase"""	604054	"""acetyl-Coenzyme A acyltransferase 1"""				Standard	NM_001607		Approved		uc003cht.3	P09110	OTTHUMG00000131087	ENST00000333167.8:c.290G>A	3.37:g.38175476C>T	ENSP00000333664:p.Gly97Glu					ACAA1_uc003chu.3_Missense_Mutation_p.G97E	p.G97E	NM_001607	NP_001598	P09110	THIK_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)	2	497	-			97					G5E935|Q96CA6	Missense_Mutation	SNP	ENST00000333167.8	37	c.290G>A	CCDS2673.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.2|27.2	4.813698|4.813698	0.90790|0.90790	.|.	.|.	ENSG00000060971|ENSG00000060971	ENST00000333167;ENST00000301810;ENST00000450296;ENST00000358122;ENST00000444607|ENST00000421218	D;D;D;D|D	0.94138|0.95342	-3.36;-3.36;-3.36;-3.36|-3.68	5.58|5.58	4.71|4.71	0.59529|0.59529	Thiolase-like, subgroup (1);Thiolase, N-terminal (1);Thiolase-like (1);|.	0.107462|0.107462	0.64402|0.64402	D|D	0.000006|0.000006	D|D	0.96658|0.96658	0.8909|0.8909	M|M	0.83312|0.83312	2.635|2.635	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;0.994;0.995;1.0|.	D|D	0.96984|0.96984	0.9717|0.9717	10|8	0.87932|0.66056	D|D	0|0.02	-23.188|-23.188	14.5372|14.5372	0.67969|0.67969	0.0:0.9286:0.0:0.0714|0.0:0.9286:0.0:0.0714	.|.	29;97;97;97|.	F5GXL8;C9JDE9;G5E935;P09110|.	.;.;.;THIK_HUMAN|.	E|R	97;97;97;29;97|20	ENSP00000333664:G97E;ENSP00000301810:G97E;ENSP00000395183:G97E;ENSP00000391918:G97E|ENSP00000398172:G20R	ENSP00000301810:G97E|ENSP00000398172:G20R	G|G	-|-	2|1	0|0	ACAA1|ACAA1	38150480|38150480	1.000000|1.000000	0.71417|0.71417	0.707000|0.707000	0.30419|0.30419	0.999000|0.999000	0.98932|0.98932	7.313000|7.313000	0.78978|0.78978	1.490000|1.490000	0.48466|0.48466	0.655000|0.655000	0.94253|0.94253	GGG|GGG		0.522	ACAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342980.1	NM_001607	
C3orf67	200844	broad.mit.edu	37	3	58870384	58870384	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr3:58870384C>T	ENST00000482387.1	-	3	323	c.227G>A	c.(226-228)cGa>cAa	p.R76Q	RP11-147N17.1_ENST00000482372.1_RNA|RP11-147N17.1_ENST00000463703.1_RNA|C3orf67_ENST00000472469.1_5'UTR|RP11-147N17.1_ENST00000492031.1_RNA|RP11-147N17.1_ENST00000493123.1_RNA|C3orf67_ENST00000295966.7_Missense_Mutation_p.R76Q			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	76								p.R76Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		TTGACAGCTTCGTGGTATAAT	0.393																																						uc003dkt.1																			1	Substitution - Missense(1)	p.R76Q(2)	prostate(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19						c.(226-228)cGa>cAa		Homo sapiens chromosome 3 open reading frame 67 (C3orf67), mRNA.							187.0	176.0	180.0					3																	58870384		2203	4300	6503	SO:0001583	missense	200844							g.chr3:58870384C>T	AK124920	CCDS33776.1	3p14.2	2011-01-25			ENSG00000163689	ENSG00000163689			24763	protein-coding gene	gene with protein product							Standard	NM_198463		Approved	FLJ42117, FLJ42930	uc003dkt.1	Q6ZVT6	OTTHUMG00000159151	ENST00000482387.1:c.227G>A	3.37:g.58870384C>T	ENSP00000417122:p.Arg76Gln					AK090895_uc003dku.1_Intron|C3orf67_uc003dkv.1_5'UTR|C3orf67_uc003dkw.3_5'UTR	p.R76Q	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)	6	636	-		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)	76					B9EKV6|Q6ZV69	Missense_Mutation	SNP	ENST00000482387.1	37	c.227G>A		.	.	.	.	.	.	.	.	.	.	C	23.5	4.421818	0.83559	.	.	ENSG00000163689	ENST00000295966;ENST00000482387	T;T	0.53857	0.6;0.6	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000001	T	0.69287	0.3094	L	0.58810	1.83	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.66775	-0.5838	9	.	.	.	-11.9797	16.7804	0.85562	0.0:1.0:0.0:0.0	.	76	Q6ZVT6-2	.	Q	76	ENSP00000295966:R76Q;ENSP00000417122:R76Q	.	R	-	2	0	C3orf67	58845424	1.000000	0.71417	0.982000	0.44146	0.531000	0.34715	4.862000	0.62976	2.694000	0.91930	0.655000	0.94253	CGA		0.393	C3orf67-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000353803.1	NM_198463	
C3orf17	25871	broad.mit.edu	37	3	112738408	112738408	+	Silent	SNP	C	C	T	rs369862780		TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr3:112738408C>T	ENST00000314400.5	-	1	278	c.87G>A	c.(85-87)caG>caA	p.Q29Q	C3orf17_ENST00000393857.2_5'UTR|RP11-572M11.4_ENST00000467342.1_RNA|C3orf17_ENST00000383675.2_Silent_p.Q29Q|RP11-572M11.4_ENST00000460707.1_RNA|RP11-572M11.4_ENST00000496389.1_RNA|RP11-572M11.4_ENST00000470313.1_RNA	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	29					negative regulation of neuron differentiation (GO:0045665)|positive regulation of Notch signaling pathway (GO:0045747)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						CGCCGGGGTTCTGCACTGTCA	0.731																																						uc003dzr.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						c.(85-87)caG>caA		Homo sapiens chromosome 3 open reading frame 17 (C3orf17), transcript variant 1, mRNA.							24.0	27.0	26.0					3																	112738408		2203	4296	6499	SO:0001819	synonymous_variant	25871					integral to membrane		g.chr3:112738408C>T	AL117573	CCDS33824.1	3q13.2	2009-11-06			ENSG00000163608	ENSG00000163608			24496	protein-coding gene	gene with protein product						12477932	Standard	NR_027794		Approved	DKFZP434F2021, NET17	uc003dzr.3	Q6NW34	OTTHUMG00000159286	ENST00000314400.5:c.87G>A	3.37:g.112738408C>T						C3orf17_uc011bia.2_5'UTR|C3orf17_uc003dzu.3_Silent_p.Q28Q|C3orf17_uc011bib.2_5'UTR|C3orf17_uc011bic.2_5'UTR|C3orf17_uc011bid.2_Non-coding_Transcript|C3orf17_uc011bhz.2_5'UTR|C3orf17_uc003dzt.3_5'UTR|C3orf17_uc003dzs.3_5'UTR|C3orf17_uc010hqg.3_5'UTR	p.Q29Q	NM_015412	NP_056227	Q6NW34	CC017_HUMAN			0	148	-			29					D3DN69|Q68DM6|Q9H7U0|Q9UFM4	Silent	SNP	ENST00000314400.5	37	c.87G>A	CCDS33824.1																																																																																				0.731	C3orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354405.3	NM_015412	
C3orf17	25871	broad.mit.edu	37	3	112738411	112738411	+	Silent	SNP	C	C	T	rs144842364	byFrequency	TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr3:112738411C>T	ENST00000314400.5	-	1	275	c.84G>A	c.(82-84)gtG>gtA	p.V28V	C3orf17_ENST00000393857.2_5'UTR|RP11-572M11.4_ENST00000467342.1_RNA|C3orf17_ENST00000383675.2_Silent_p.V28V|RP11-572M11.4_ENST00000460707.1_RNA|RP11-572M11.4_ENST00000496389.1_RNA|RP11-572M11.4_ENST00000470313.1_RNA	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	28					negative regulation of neuron differentiation (GO:0045665)|positive regulation of Notch signaling pathway (GO:0045747)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						CGGGGTTCTGCACTGTCACTG	0.726													C|||	3	0.000599042	0.0	0.0	5008	,	,		12623	0.0		0.003	False		,,,				2504	0.0					uc003dzr.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						c.(82-84)gtG>gtA		Homo sapiens chromosome 3 open reading frame 17 (C3orf17), transcript variant 1, mRNA.		C		2,4404	4.2+/-10.8	0,2,2201	25.0	28.0	27.0		84	-4.8	0.0	3	dbSNP_134	27	37,8555	22.2+/-67.0	0,37,4259	no	coding-synonymous	C3orf17	NM_015412.3		0,39,6460	TT,TC,CC		0.4306,0.0454,0.3		28/568	112738411	39,12959	2203	4296	6499	SO:0001819	synonymous_variant	25871					integral to membrane		g.chr3:112738411C>T	AL117573	CCDS33824.1	3q13.2	2009-11-06			ENSG00000163608	ENSG00000163608			24496	protein-coding gene	gene with protein product						12477932	Standard	NR_027794		Approved	DKFZP434F2021, NET17	uc003dzr.3	Q6NW34	OTTHUMG00000159286	ENST00000314400.5:c.84G>A	3.37:g.112738411C>T						C3orf17_uc011bia.2_5'UTR|C3orf17_uc003dzu.3_Silent_p.V27V|C3orf17_uc011bib.2_5'UTR|C3orf17_uc011bic.2_5'UTR|C3orf17_uc011bid.2_Non-coding_Transcript|C3orf17_uc011bhz.2_5'UTR|C3orf17_uc003dzt.3_5'UTR|C3orf17_uc003dzs.3_5'UTR|C3orf17_uc010hqg.3_5'UTR	p.V28V	NM_015412	NP_056227	Q6NW34	CC017_HUMAN			0	145	-			28					D3DN69|Q68DM6|Q9H7U0|Q9UFM4	Silent	SNP	ENST00000314400.5	37	c.84G>A	CCDS33824.1																																																																																				0.726	C3orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354405.3	NM_015412	
C3orf17	25871	broad.mit.edu	37	3	112738459	112738459	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr3:112738459C>T	ENST00000314400.5	-	1	227	c.36G>A	c.(34-36)tgG>tgA	p.W12*	C3orf17_ENST00000393857.2_5'UTR|RP11-572M11.4_ENST00000467342.1_RNA|C3orf17_ENST00000383675.2_Nonsense_Mutation_p.W12*|RP11-572M11.4_ENST00000460707.1_RNA|RP11-572M11.4_ENST00000496389.1_RNA|RP11-572M11.4_ENST00000470313.1_RNA	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	12					negative regulation of neuron differentiation (GO:0045665)|positive regulation of Notch signaling pathway (GO:0045747)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						TCACACGGTTCCACGGCTCCA	0.701																																						uc003dzr.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						c.(34-36)tgG>tgA		Homo sapiens chromosome 3 open reading frame 17 (C3orf17), transcript variant 1, mRNA.							25.0	28.0	27.0					3																	112738459		2203	4298	6501	SO:0001587	stop_gained	25871					integral to membrane		g.chr3:112738459C>T	AL117573	CCDS33824.1	3q13.2	2009-11-06			ENSG00000163608	ENSG00000163608			24496	protein-coding gene	gene with protein product						12477932	Standard	NR_027794		Approved	DKFZP434F2021, NET17	uc003dzr.3	Q6NW34	OTTHUMG00000159286	ENST00000314400.5:c.36G>A	3.37:g.112738459C>T	ENSP00000320251:p.Trp12*					C3orf17_uc011bia.2_5'UTR|C3orf17_uc003dzu.3_Nonsense_Mutation_p.W11*|C3orf17_uc011bib.2_5'UTR|C3orf17_uc011bic.2_5'UTR|C3orf17_uc011bid.2_Non-coding_Transcript|C3orf17_uc011bhz.2_5'UTR|C3orf17_uc003dzt.3_5'UTR|C3orf17_uc003dzs.3_5'UTR|C3orf17_uc010hqg.3_5'UTR	p.W12*	NM_015412	NP_056227	Q6NW34	CC017_HUMAN			0	97	-			12					D3DN69|Q68DM6|Q9H7U0|Q9UFM4	Nonsense_Mutation	SNP	ENST00000314400.5	37	c.36G>A	CCDS33824.1	.	.	.	.	.	.	.	.	.	.	C	34	5.311650	0.95655	.	.	ENSG00000163608	ENST00000314400;ENST00000383675	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3171	15.1021	0.72288	0.0:1.0:0.0:0.0	.	.	.	.	X	12	.	ENSP00000320251:W12X	W	-	3	0	C3orf17	114221149	1.000000	0.71417	1.000000	0.80357	0.307000	0.27823	3.249000	0.51437	2.647000	0.89833	0.655000	0.94253	TGG		0.701	C3orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354405.3	NM_015412	
IFT80	57560	broad.mit.edu	37	3	160075296	160075296	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr3:160075296C>T	ENST00000326448.7	-	7	1052	c.620G>A	c.(619-621)gGt>gAt	p.G207D	IFT80_ENST00000483465.1_Missense_Mutation_p.G70D|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.G378D|IFT80_ENST00000496589.1_Missense_Mutation_p.G70D	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	207					bone morphogenesis (GO:0060349)|chondrocyte differentiation (GO:0002062)|cilium assembly (GO:0042384)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|osteoblast differentiation (GO:0001649)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ACAGTCTTCACCAGCAGATAA	0.264																																						uc021xgr.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(619-621)gGt>gAt		Homo sapiens intraflagellar transport 80 homolog (Chlamydomonas) (IFT80), transcript variant 1, mRNA.							59.0	65.0	63.0					3																	160075296		2199	4286	6485	SO:0001583	missense	57560					cilium axoneme|microtubule basal body		g.chr3:160075296C>T	AB037795	CCDS3188.1, CCDS54668.1	3q25.33	2014-07-03	2014-07-03	2005-11-02	ENSG00000068885	ENSG00000068885		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29262	protein-coding gene	gene with protein product		611177	"""WD repeat domain 56"", ""intraflagellar transport 80 homolog (Chlamydomonas)"""	WDR56		10718198	Standard	NM_020800		Approved	KIAA1374	uc021xgq.1	Q9P2H3	OTTHUMG00000158953	ENST00000326448.7:c.620G>A	3.37:g.160075296C>T	ENSP00000312778:p.Gly207Asp					IFT80_uc003fda.3_Non-coding_Transcript|IFT80_uc003fdb.2_Missense_Mutation_p.G70D|IFT80_uc021xgq.1_Missense_Mutation_p.G205D|IFT80_uc003fde.2_Missense_Mutation_p.G70D|IFT80_uc003fdd.2_5'UTR	p.G207D	NM_020800	NP_065851	Q9P2H3	IFT80_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		5	666	-			207					B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	Missense_Mutation	SNP	ENST00000326448.7	37	c.620G>A	CCDS3188.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.995791	0.93167	.	.	ENSG00000068885	ENST00000326448;ENST00000483465;ENST00000496589;ENST00000465537;ENST00000475677	T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07	5.37	5.37	0.77165	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.56097	U	0.000039	T	0.79828	0.4513	M	0.89353	3.025	0.80722	D	1	D	0.56968	0.978	P	0.55749	0.783	D	0.83582	0.0118	10	0.59425	D	0.04	-14.6801	19.1062	0.93296	0.0:1.0:0.0:0.0	.	207	Q9P2H3	IFT80_HUMAN	D	207;70;70;70;70	ENSP00000312778:G207D;ENSP00000418196:G70D;ENSP00000420646:G70D;ENSP00000418602:G70D;ENSP00000419458:G70D	ENSP00000312778:G207D	G	-	2	0	IFT80	161557990	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	5.704000	0.68347	2.520000	0.84964	0.655000	0.94253	GGT		0.264	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352651.2	NM_020800	
GPR125	166647	broad.mit.edu	37	4	22414939	22414939	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr4:22414939C>T	ENST00000334304.5	-	14	2367	c.2098G>A	c.(2098-2100)Gtt>Att	p.V700I	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	700	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CGGGCTGCAACAGCATCTGCT	0.443																																						uc003gqm.1																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(2098-2100)Gtt>Att		Homo sapiens G protein-coupled receptor 125 (GPR125), mRNA.							128.0	125.0	126.0					4																	22414939		2203	4300	6503	SO:0001583	missense	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22414939C>T	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.2098G>A	4.37:g.22414939C>T	ENSP00000334952:p.Val700Ile					GPR125_uc010ieo.1_Missense_Mutation_p.V556I	p.V700I	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN			13	2363	-		Breast(46;0.198)	700			GPS.		Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	c.2098G>A	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.868723	0.51588	.	.	ENSG00000152990	ENST00000334304	T	0.55413	0.52	5.87	3.22	0.36961	GPS domain (2);	0.242686	0.40908	N	0.000994	T	0.34571	0.0902	N	0.12920	0.275	0.80722	D	1	B;B	0.14012	0.009;0.006	B;B	0.20184	0.028;0.028	T	0.05566	-1.0877	10	0.32370	T	0.25	-19.2071	11.7311	0.51737	0.0:0.8082:0.0:0.1918	.	557;700	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	I	700	ENSP00000334952:V700I	ENSP00000334952:V700I	V	-	1	0	GPR125	22024037	0.991000	0.36638	0.029000	0.17559	0.999000	0.98932	3.024000	0.49674	0.383000	0.24910	0.650000	0.86243	GTT		0.443	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3		
PHOX2B	8929	broad.mit.edu	37	4	41748308	41748308	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr4:41748308C>T	ENST00000226382.2	-	3	820	c.461G>A	c.(460-462)cGc>cAc	p.R154H	RP11-227F19.1_ENST00000508038.1_RNA	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	154					autonomic nervous system development (GO:0048483)|brainstem development (GO:0003360)|cell differentiation in hindbrain (GO:0021533)|cellular response to BMP stimulus (GO:0071773)|dopaminergic neuron differentiation (GO:0071542)|efferent axon development in a lateral line nerve (GO:0048894)|enteric nervous system development (GO:0048484)|glial cell differentiation (GO:0010001)|hindbrain tangential cell migration (GO:0021934)|inner ear development (GO:0048839)|medullary reticular formation development (GO:0021723)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|noradrenergic neuron development (GO:0003358)|noradrenergic neuron differentiation (GO:0003357)|parasympathetic nervous system development (GO:0048486)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression (GO:0010468)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory system development (GO:0060541)|retrotrapezoid nucleus neuron differentiation (GO:0061452)|skeletal muscle cell differentiation (GO:0035914)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						CTCCTGCTTGCGAAACTTGGC	0.617			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													uc003gwf.4			yes	Rec	yes	familial neuroblastoma	4	4p12	8929	"""Mis, F"""	paired-like homeobox 2b	yes	congenital central hypoventilation syndrome	O		neuroblastoma	neuroblastoma		0				autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						c.(460-462)cGc>cAc		Homo sapiens paired-like homeobox 2b (PHOX2B), mRNA.							24.0	26.0	25.0					4																	41748308		2200	4299	6499	SO:0001583	missense	8929	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr4:41748308C>T	D82344	CCDS3463.1	4p13	2014-09-17	2003-02-10	2003-02-14	ENSG00000109132	ENSG00000109132		"""Homeoboxes / PRD class"""	9143	protein-coding gene	gene with protein product		603851	"""paired mesoderm homeobox 2b"""	PMX2B		9039501, 10395798	Standard	NM_003924		Approved	Phox2b, NBPhox	uc003gwf.4	Q99453	OTTHUMG00000099379	ENST00000226382.2:c.461G>A	4.37:g.41748308C>T	ENSP00000226382:p.Arg154His						p.R154H	NM_003924	NP_003915	Q99453	PHX2B_HUMAN			2	821	-			154					Q6PJD9	Missense_Mutation	SNP	ENST00000226382.2	37	c.461G>A	CCDS3463.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.8|21.8	4.197882|4.197882	0.79015|0.79015	.|.	.|.	ENSG00000109132|ENSG00000109132	ENST00000510424|ENST00000226382	.|D	.|0.97642	.|-4.47	4.67|4.67	3.83|3.83	0.44106|0.44106	.|Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99174|0.99174	0.9714|0.9714	H|H	0.99573|0.99573	4.635|4.635	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.85130	.|0.997	D|D	0.98516|0.98516	1.0621|1.0621	5|10	.|0.87932	.|D	.|0	.|.	14.0012|14.0012	0.64436|0.64436	0.0:0.8474:0.1526:0.0|0.0:0.8474:0.1526:0.0	.|.	.|154	.|Q99453	.|PHX2B_HUMAN	T|H	94|154	.|ENSP00000226382:R154H	.|ENSP00000226382:R154H	A|R	-|-	1|2	0|0	PHOX2B|PHOX2B	41443065|41443065	1.000000|1.000000	0.71417|0.71417	0.913000|0.913000	0.36048|0.36048	0.987000|0.987000	0.75469|0.75469	7.239000|7.239000	0.78182|0.78182	1.166000|1.166000	0.42689|0.42689	0.591000|0.591000	0.81541|0.81541	GCA|CGC		0.617	PHOX2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216832.2		
PDGFRA	5156	broad.mit.edu	37	4	55131142	55131142	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr4:55131142G>A	ENST00000257290.5	+	5	1016	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K	PDGFRA_ENST00000508170.1_3'UTR|FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	229	Ig-like C2-type 3.				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)			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)	TAAGTCAGGGGAAACGATTGT	0.423			"""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.4				Dom	yes		4	4q11-q13	5156	"""Mis, O, T"""	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""		0				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						c.(685-687)Gaa>Aaa		Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						173.0	167.0	169.0					4																	55131142		2203	4300	6503	SO:0001583	missense	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.chr4:55131142G>A	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	ENST00000257290.5:c.685G>A	4.37:g.55131142G>A	ENSP00000257290:p.Glu229Lys	TSP Lung(21;0.16)				PDGFRA_uc003haa.3_Intron|PDGFRA_uc003hal.3_3'UTR|PDGFRA_uc010igq.1_Missense_Mutation_p.E123K|PDGFRA_uc003ham.2_Non-coding_Transcript	p.E229K	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)		4	1016	+	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)		229			Ig-like C2-type 3.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.685G>A	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	31	5.103790	0.94245	.	.	ENSG00000134853	ENST00000257290	T	0.68479	-0.33	5.26	5.26	0.73747	Immunoglobulin I-set (1);Tyrosine-protein kinase, vascular endothelial growth factor receptor (VEGFR), N-terminal (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.32884	U	0.005529	D	0.83202	0.5203	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;0.992	D;D	0.79108	0.992;0.913	D	0.85423	0.1144	10	0.72032	D	0.01	.	18.8692	0.92306	0.0:0.0:1.0:0.0	.	229;229	P16234-3;P16234	.;PGFRA_HUMAN	K	229	ENSP00000257290:E229K	ENSP00000257290:E229K	E	+	1	0	PDGFRA	54825899	1.000000	0.71417	0.799000	0.32177	0.762000	0.43233	7.968000	0.87980	2.470000	0.83445	0.491000	0.48974	GAA		0.423	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206	
SGMS2	166929	broad.mit.edu	37	4	108820833	108820833	+	Silent	SNP	C	C	T	rs150340532		TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr4:108820833C>T	ENST00000394684.4	+	4	1115	c.558C>T	c.(556-558)ttC>ttT	p.F186F	SGMS2_ENST00000394686.3_Silent_p.F186F|RP11-286E11.1_ENST00000499098.1_RNA|RP11-286E11.1_ENST00000513071.1_RNA|SGMS2_ENST00000359079.4_Silent_p.F186F	NM_001136258.1	NP_001129730.1	Q8NHU3	SMS2_HUMAN	sphingomyelin synthase 2	186					small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)	Golgi apparatus (GO:0005794)|integral component of cell outer membrane (GO:0045203)|integral component of Golgi membrane (GO:0030173)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ceramide cholinephosphotransferase activity (GO:0047493)|kinase activity (GO:0016301)|sphingomyelin synthase activity (GO:0033188)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)		GAATGCATTTCCAGTGTGCTC	0.398																																						uc003hyo.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20						c.(556-558)ttC>ttT		Homo sapiens sphingomyelin synthase 2 (SGMS2), transcript variant 1, mRNA.	Choline(DB00122)	C	,,	2,4404	4.2+/-10.8	0,2,2201	158.0	144.0	149.0		558,558,558	3.2	1.0	4	dbSNP_134	149	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	SGMS2	NM_001136257.1,NM_001136258.1,NM_152621.5	,,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,,	186/366,186/366,186/366	108820833	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	166929				sphingomyelin biosynthetic process	integral to Golgi membrane|integral to plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity	g.chr4:108820833C>T	BC041369	CCDS3677.1	4q25	2008-02-05			ENSG00000164023	ENSG00000164023	2.7.8.27		28395	protein-coding gene	gene with protein product		611574				14685263	Standard	NM_152621		Approved	MGC26963, SMS2	uc003hyl.4	Q8NHU3	OTTHUMG00000131811	ENST00000394684.4:c.558C>T	4.37:g.108820833C>T						SGMS2_uc003hyl.4_Silent_p.F186F|AK123292_uc003hym.1_Intron|SGMS2_uc003hyn.3_Silent_p.F186F	p.F186F	NM_152621	NP_689834	Q8NHU3	SMS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)	2	1197	+			186					A8K2S9|B2RA61	Silent	SNP	ENST00000394684.4	37	c.558C>T	CCDS3677.1																																																																																				0.398	SGMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254752.1	NM_152621	
AP1AR	55435	broad.mit.edu	37	4	113189433	113189433	+	Silent	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr4:113189433G>A	ENST00000274000.5	+	10	1132	c.777G>A	c.(775-777)gaG>gaA	p.E259E	AP1AR_ENST00000309703.6_Silent_p.E226E	NM_018569.4	NP_061039.3	Q63HQ0	AP1AR_HUMAN	adaptor-related protein complex 1 associated regulatory protein	259					cellular protein localization (GO:0034613)|negative regulation of cell motility (GO:2000146)|negative regulation of receptor recycling (GO:0001920)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|protein transport (GO:0015031)|regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)|vesicle targeting, trans-Golgi to endosome (GO:0048203)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|transport vesicle (GO:0030133)	AP-1 adaptor complex binding (GO:0035650)|kinesin binding (GO:0019894)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	9						ATGGGCTGGAGTGGGAAAATG	0.403																																						uc003iaj.4																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	9						c.(775-777)gaG>gaA		Homo sapiens adaptor-related protein complex 1 associated regulatory protein (AP1AR), transcript variant 1, mRNA.							118.0	109.0	112.0					4																	113189433		2203	4299	6502	SO:0001819	synonymous_variant	55435				protein transport	early endosome|Golgi apparatus|late endosome|transport vesicle		g.chr4:113189433G>A	AL136628	CCDS3696.1, CCDS47125.1	4q25	2009-09-28	2009-09-25	2009-09-25	ENSG00000138660	ENSG00000138660			28808	protein-coding gene	gene with protein product	"""gamma1-adaptin brefeldin A resistance"""	610851	"""chromosome 4 open reading frame 16"""	C4orf16		15775984	Standard	NM_018569		Approved	PRO0971, 2C18, gamma-BAR	uc003iaj.4	Q63HQ0	OTTHUMG00000132849	ENST00000274000.5:c.777G>A	4.37:g.113189433G>A						AP1AR_uc003iak.4_Silent_p.E226E	p.E259E	NM_018569	NP_061039	Q63HQ0	AP1AR_HUMAN			9	1130	+			259					B2RCV7|Q96GG6|Q9H0V0|Q9P1L4	Silent	SNP	ENST00000274000.5	37	c.777G>A	CCDS3696.1																																																																																				0.403	AP1AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256323.2	NM_018569	
MAP3K1	4214	broad.mit.edu	37	5	56160697	56160697	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr5:56160697C>T	ENST00000399503.3	+	4	971	c.971C>T	c.(970-972)cCt>cTt	p.P324L	AC008937.2_ENST00000415589.1_RNA	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	324					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CAGATAGGGCCTAACTCTTTC	0.468																																						uc003jqw.4																			0				NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57						c.(970-972)cCt>cTt		Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.							110.0	109.0	109.0					5																	56160697		1888	4111	5999	SO:0001583	missense	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56160697C>T	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.971C>T	5.37:g.56160697C>T	ENSP00000382423:p.Pro324Leu						p.P324L	NM_005921	NP_005912	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	3	1472	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	324						Missense_Mutation	SNP	ENST00000399503.3	37	c.971C>T	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922032	0.92319	.	.	ENSG00000095015	ENST00000399503	T	0.72167	-0.63	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.85323	0.5670	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86368	0.1721	10	0.87932	D	0	.	19.7555	0.96287	0.0:1.0:0.0:0.0	.	324	Q13233	M3K1_HUMAN	L	324	ENSP00000382423:P324L	ENSP00000382423:P324L	P	+	2	0	MAP3K1	56196454	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	6.764000	0.74960	2.737000	0.93849	0.563000	0.77884	CCT		0.468	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066	
HNRNPA1P12	644037	broad.mit.edu	37	5	79655242	79655242	+	IGR	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr5:79655242C>T								SPZ1 (37581 upstream) : RNU6-211P (6302 downstream)																							accacctccacgaccaccacc	0.517																																																									0																																																	SO:0001628	intergenic_variant	644037							g.chr5:79655242C>T																													5.37:g.79655242C>T						CRSP8P (7457 upstream) : ZFYVE16 (48596 downstream)																			Missense_Mutation	SNP		37																																																																																					0	0.517								
PAM	5066	broad.mit.edu	37	5	102284128	102284128	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr5:102284128G>C	ENST00000438793.3	+	8	1092	c.622G>C	c.(622-624)Gtt>Ctt	p.V208L	PAM_ENST00000379787.4_5'UTR|PAM_ENST00000346918.2_Missense_Mutation_p.V208L|PAM_ENST00000304400.7_Missense_Mutation_p.V208L|PAM_ENST00000348126.2_Missense_Mutation_p.V208L|PAM_ENST00000274392.9_Missense_Mutation_p.V111L|PAM_ENST00000455264.2_Missense_Mutation_p.V208L	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	208	Peptidylglycine alpha-hydroxylating monooxygenase. {ECO:0000250}.				central nervous system development (GO:0007417)|heart development (GO:0007507)|lactation (GO:0007595)|limb development (GO:0060173)|long-chain fatty acid metabolic process (GO:0001676)|maternal process involved in female pregnancy (GO:0060135)|odontogenesis (GO:0042476)|ovulation cycle process (GO:0022602)|peptide amidation (GO:0001519)|protein amidation (GO:0018032)|protein homooligomerization (GO:0051260)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of protein secretion (GO:0050708)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to pH (GO:0009268)|toxin metabolic process (GO:0009404)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|L-ascorbic acid binding (GO:0031418)|peptidylamidoglycolate lyase activity (GO:0004598)|peptidylglycine monooxygenase activity (GO:0004504)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	TGTTGACACTGTTATCCCAGC	0.303																																						uc003knt.3																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25						c.(622-624)Gtt>Ctt		Homo sapiens peptidylglycine alpha-amidating monooxygenase (PAM), transcript variant 1, mRNA.	Vitamin C(DB00126)						122.0	123.0	123.0					5																	102284128		2203	4298	6501	SO:0001583	missense	5066				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding	g.chr5:102284128G>C	AB095007	CCDS4092.1, CCDS4093.1, CCDS4094.1, CCDS43348.1, CCDS54885.1	5q	2008-02-05			ENSG00000145730	ENSG00000145730	1.14.17.3		8596	protein-coding gene	gene with protein product	"""peptidyl-alpha-hydroxyglycine alpha-amidating lyase"", ""peptidylglycine alpha-hydroxylating monooxygenase"""	170270				2357221	Standard	NM_000919		Approved	PAL, PHM	uc003knt.3	P19021	OTTHUMG00000128729	ENST00000438793.3:c.622G>C	5.37:g.102284128G>C	ENSP00000396493:p.Val208Leu					PAM_uc003knw.3_Missense_Mutation_p.V208L|PAM_uc003kns.3_Missense_Mutation_p.V208L|PAM_uc003knu.3_Missense_Mutation_p.V208L|PAM_uc011cuz.2_Missense_Mutation_p.V111L|PAM_uc003knv.3_Missense_Mutation_p.V208L	p.V208L	NM_000919	NP_000910	P19021	AMD_HUMAN		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	7	995	+		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)	208			Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).		A6NMR0|A8K293|O43211|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	Missense_Mutation	SNP	ENST00000438793.3	37	c.622G>C	CCDS54885.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.506332	0.26949	.	.	ENSG00000145730	ENST00000438793;ENST00000346918;ENST00000348126;ENST00000304400;ENST00000274392;ENST00000455264	T;T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02;-1.02	5.75	5.75	0.90469	PHM/PNGase F domain (1);Copper type II, ascorbate-dependent monooxygenase-like, C-terminal (1);	0.056134	0.64402	D	0.000001	T	0.77164	0.4090	L	0.40543	1.245	0.80722	D	1	B;B;B;B;B;B	0.25312	0.057;0.071;0.057;0.086;0.123;0.012	B;B;B;B;B;B	0.37346	0.099;0.247;0.16;0.106;0.207;0.016	T	0.70970	-0.4727	10	0.32370	T	0.25	.	19.5333	0.95239	0.0:0.0:1.0:0.0	.	111;208;208;208;208;208	F8WE90;P19021;P19021-4;P19021-3;P19021-5;P19021-2	.;AMD_HUMAN;.;.;.;.	L	208;208;208;208;111;208	ENSP00000396493:V208L;ENSP00000282992:V208L;ENSP00000314638:V208L;ENSP00000306100:V208L;ENSP00000274392:V111L;ENSP00000403461:V208L	ENSP00000274392:V111L	V	+	1	0	PAM	102312027	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.712000	0.68407	2.720000	0.93068	0.563000	0.77884	GTT		0.303	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250640.2	NM_000919	
KIF4B	285643	broad.mit.edu	37	5	154396823	154396823	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr5:154396823C>A	ENST00000435029.4	+	1	3564	c.3404C>A	c.(3403-3405)aCc>aAc	p.T1135N		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1135	Globular. {ECO:0000250}.|Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GTTGAACAGACCCAGGATTCC	0.537																																						uc010jih.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(3403-3405)aCc>aAc		Homo sapiens kinesin family member 4B (KIF4B), mRNA.							145.0	135.0	138.0					5																	154396823		2203	4300	6503	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154396823C>A	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.3404C>A	5.37:g.154396823C>A	ENSP00000387875:p.Thr1135Asn						p.T1135N	NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		0	3564	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	1135			Globular (By similarity).|Interaction with PRC1 (By similarity).			Missense_Mutation	SNP	ENST00000435029.4	37	c.3404C>A	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	C	2.950	-0.216901	0.06101	.	.	ENSG00000226650	ENST00000435029	T	0.68479	-0.33	2.14	1.17	0.20885	.	.	.	.	.	T	0.43853	0.1266	N	0.14661	0.345	0.33158	D	0.54665	B	0.06786	0.001	B	0.08055	0.003	T	0.39354	-0.9618	9	0.33141	T	0.24	.	6.101	0.20047	0.304:0.696:0.0:0.0	.	1135	Q2VIQ3	KIF4B_HUMAN	N	1135	ENSP00000387875:T1135N	ENSP00000387875:T1135N	T	+	2	0	KIF4B	154377016	0.002000	0.14202	0.631000	0.29282	0.500000	0.33767	-0.009000	0.12765	0.155000	0.19261	0.563000	0.77884	ACC		0.537	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1		
GRM6	2916	broad.mit.edu	37	5	178416095	178416095	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr5:178416095C>T	ENST00000517717.1	-	7	1233	c.1195G>A	c.(1195-1197)Ggc>Agc	p.G399S	GRM6_ENST00000231188.5_Missense_Mutation_p.G399S|RP11-281O15.4_ENST00000519491.1_RNA			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	399					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		TGCACCTTGCCCTCCTGCTCG	0.667																																						uc003mjr.3																			0				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55						c.(1195-1197)Ggc>Agc		Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.							151.0	130.0	137.0					5																	178416095		2203	4300	6503	SO:0001583	missense	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178416095C>T	U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1195G>A	5.37:g.178416095C>T	ENSP00000430767:p.Gly399Ser					GRM6_uc010jla.1_Intron|GRM6_uc003mjs.1_Missense_Mutation_p.G19S	p.G399S	NM_000843	NP_000834	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	5	1374	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	399						Missense_Mutation	SNP	ENST00000517717.1	37	c.1195G>A	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.502239	0.44455	.	.	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	D;D	0.82167	-1.58;-1.58	5.22	5.22	0.72569	Extracellular ligand-binding receptor (1);	.	.	.	.	T	0.78181	0.4243	L	0.38953	1.18	0.46798	D	0.9992	P;P	0.43542	0.81;0.776	P;P	0.46629	0.471;0.522	T	0.74469	-0.3655	9	0.02654	T	1	.	16.6519	0.85218	0.0:1.0:0.0:0.0	.	439;399	E7EX65;O15303	.;GRM6_HUMAN	S	439;399;399	ENSP00000231188:G399S;ENSP00000430767:G399S	ENSP00000231188:G399S	G	-	1	0	GRM6	178348701	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.791000	0.62460	2.608000	0.88229	0.555000	0.69702	GGC		0.667	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2		
DSP	1832	broad.mit.edu	37	6	7581804	7581804	+	Splice_Site	SNP	T	T	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr6:7581804T>A	ENST00000379802.3	+	23	5720		c.e23+2		DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin						adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GCTTTAGAGGTATTCACAAAT	0.373																																						uc003mxp.1																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.e23+2		Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.							42.0	48.0	46.0					6																	7581804		2198	4298	6496	SO:0001630	splice_region_variant	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7581804T>A	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.5379+2T>A	6.37:g.7581804T>A						DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	p.E1793_splice	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	23	5658	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1793			Central fibrous rod domain.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Splice_Site	SNP	ENST00000379802.3	37	c.5379_splice	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	T	19.23	3.788503	0.70337	.	.	ENSG00000096696	ENST00000379802	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5446	0.84426	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	DSP	7526803	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.311000	0.77944	0.533000	0.62120	.		0.373	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415	Intron
BTBD9	114781	broad.mit.edu	37	6	38224188	38224188	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr6:38224188C>A	ENST00000481247.1	-	9	1710	c.1559G>T	c.(1558-1560)tGc>tTc	p.C520F	BTBD9_ENST00000408958.1_Missense_Mutation_p.C452F|BTBD9_ENST00000419706.2_Missense_Mutation_p.C490F|BTBD9_ENST00000403056.1_Missense_Mutation_p.C520F|BTBD9_ENST00000314100.6_Missense_Mutation_p.C452F	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	520					adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|circadian sleep/wake cycle, non-REM sleep (GO:0042748)|long-term memory (GO:0007616)|multicellular organismal iron ion homeostasis (GO:0060586)|regulation of synaptic vesicle endocytosis (GO:1900242)|sensory perception of temperature stimulus (GO:0050951)|serotonin metabolic process (GO:0042428)					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						AACTTACTTGCAGGAGACTTT	0.408																																						uc003ooa.4																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						c.(1558-1560)tGc>tTc		Homo sapiens BTB (POZ) domain containing 9 (BTBD9), transcript variant 1, mRNA.							88.0	83.0	84.0					6																	38224188		1847	4095	5942	SO:0001583	missense	114781				cell adhesion			g.chr6:38224188C>A		CCDS43458.1, CCDS47418.1, CCDS54998.1	6p21	2014-01-28			ENSG00000183826	ENSG00000183826		"""BTB/POZ domain containing"""	21228	protein-coding gene	gene with protein product		611237				11572484	Standard	NM_052893		Approved	KIAA1880, dJ322I12.1	uc010jwx.3	Q96Q07	OTTHUMG00000014634	ENST00000481247.1:c.1559G>T	6.37:g.38224188C>A	ENSP00000418751:p.Cys520Phe					BTBD9_uc010jwv.3_Missense_Mutation_p.C490F|BTBD9_uc003ony.4_Missense_Mutation_p.C452F|BTBD9_uc010jww.3_Non-coding_Transcript|BTBD9_uc010jwx.3_Missense_Mutation_p.C520F	p.C520F	NM_052893	NP_689946	Q96Q07	BTBD9_HUMAN			9	2135	-			520					Q494V9|Q494W1|Q96M00	Missense_Mutation	SNP	ENST00000481247.1	37	c.1559G>T	CCDS47418.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.913596	0.72983	.	.	ENSG00000183826	ENST00000314100;ENST00000481247;ENST00000419706;ENST00000403056;ENST00000408958	D;D;D;D;D	0.98234	-4.81;-4.81;-4.81;-4.81;-4.81	4.97	4.97	0.65823	Coagulation factor 5/8 C-terminal type domain (1);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.99070	0.9681	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.85130	0.997;0.979	D	0.99741	1.1015	10	0.87932	D	0	.	17.2001	0.86903	0.0:1.0:0.0:0.0	.	490;520	Q494V9;Q96Q07	.;BTBD9_HUMAN	F	452;520;490;520;452	ENSP00000323408:C452F;ENSP00000418751:C520F;ENSP00000415365:C490F;ENSP00000386121:C520F;ENSP00000386211:C452F	ENSP00000323408:C452F	C	-	2	0	BTBD9	38332166	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.641000	0.74324	2.584000	0.87258	0.563000	0.77884	TGC		0.408	BTBD9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040433.2	NM_152733	
ABCA13	154664	broad.mit.edu	37	7	48312026	48312026	+	Silent	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr7:48312026C>T	ENST00000435803.1	+	17	2787	c.2763C>T	c.(2761-2763)taC>taT	p.Y921Y		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	921					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ACACAGTCTACGCTATCAGGA	0.378																																						uc003toq.2																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(2761-2763)taC>taT		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.							68.0	65.0	66.0					7																	48312026		1872	4103	5975	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48312026C>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.2763C>T	7.37:g.48312026C>T						ABCA13_uc010kyr.2_Silent_p.Y424Y|ABCA13_uc022acp.1_5'Flank	p.Y921Y	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			16	2787	+			921					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.2763C>T	CCDS47584.1																																																																																				0.378	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	
WBSCR17	64409	broad.mit.edu	37	7	70880884	70880884	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr7:70880884A>G	ENST00000333538.5	+	4	1233	c.599A>G	c.(598-600)aAg>aGg	p.K200R	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	200	Catalytic subdomain A.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GAGGAGCTGAAGGTCCCCCTA	0.498																																						uc003tvy.3																			0		p.L199L(1)|p.K200N(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100						c.(598-600)aAg>aGg		Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.							66.0	63.0	64.0					7																	70880884		2203	4300	6503	SO:0001583	missense	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:70880884A>G	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.599A>G	7.37:g.70880884A>G	ENSP00000329654:p.Lys200Arg					WBSCR17_uc003tvz.3_5'UTR	p.K200R	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN			3	599	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	200			Catalytic subdomain A.		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	c.599A>G	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	A	17.87	3.495290	0.64186	.	.	ENSG00000185274	ENST00000333538;ENST00000447516	T;T	0.61859	0.07;0.07	5.17	4.0	0.46444	Glycosyl transferase, family 2 (1);	0.092388	0.64402	D	0.000001	T	0.56124	0.1964	L	0.56340	1.77	0.58432	D	0.999998	P	0.40282	0.711	B	0.43867	0.434	T	0.56129	-0.8030	10	0.54805	T	0.06	.	10.6005	0.45365	0.8558:0.0:0.0:0.1441	.	200	Q6IS24	GLTL3_HUMAN	R	200;178	ENSP00000329654:K200R;ENSP00000392019:K178R	ENSP00000329654:K200R	K	+	2	0	WBSCR17	70518820	1.000000	0.71417	1.000000	0.80357	0.531000	0.34715	8.870000	0.92336	0.797000	0.33971	-0.490000	0.04691	AAG		0.498	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479	
PCLO	27445	broad.mit.edu	37	7	82581587	82581587	+	Silent	SNP	A	A	G			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr7:82581587A>G	ENST00000333891.9	-	5	9019	c.8682T>C	c.(8680-8682)gaT>gaC	p.D2894D	PCLO_ENST00000423517.2_Silent_p.D2894D|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTACTTCCCCATCAGTGATTC	0.438																																						uc003uhx.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(8680-8682)gaT>gaC		Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.							183.0	173.0	176.0					7																	82581587		1997	4172	6169	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82581587A>G	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.8682T>C	7.37:g.82581587A>G						PCLO_uc003uhv.2_Silent_p.D2894D|PCLO_uc010lec.3_5'Flank	p.D2894D	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			4	8971	-			2825						Silent	SNP	ENST00000333891.9	37	c.8682T>C	CCDS47630.1																																																																																				0.438	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
ZCWPW1	55063	broad.mit.edu	37	7	100017491	100017491	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr7:100017491G>C	ENST00000398027.2	-	4	291	c.44C>G	c.(43-45)cCa>cGa	p.P15R	ZCWPW1_ENST00000360951.4_Missense_Mutation_p.P15R|ZCWPW1_ENST00000490721.1_5'UTR|ZCWPW1_ENST00000324725.6_5'UTR	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	15							zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GATTCTCTTTGGTCCCTTTCC	0.448																																						uc003uut.3																			0				breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16						c.(43-45)cCa>cGa		Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA.							74.0	68.0	70.0					7																	100017491		1855	4090	5945	SO:0001583	missense	55063						zinc ion binding	g.chr7:100017491G>C	AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"""zinc finger, CW-type with PWWP domain 1"""			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.44C>G	7.37:g.100017491G>C	ENSP00000381109:p.Pro15Arg					ZCWPW1_uc011kjq.2_5'Flank|ZCWPW1_uc003uur.3_5'Flank|ZCWPW1_uc003uus.3_5'UTR|ZCWPW1_uc011kjr.2_Missense_Mutation_p.P14R|ZCWPW1_uc003uuu.1_Missense_Mutation_p.P14R|ZCWPW1_uc011kjt.1_Missense_Mutation_p.P14R|ZCWPW1_uc011kju.1_Missense_Mutation_p.P14R	p.P15R	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN			3	292	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		15					A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Missense_Mutation	SNP	ENST00000398027.2	37	c.44C>G	CCDS43623.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.905223	0.52333	.	.	ENSG00000078487	ENST00000398027;ENST00000360951;ENST00000379559	T;T	0.46063	0.91;0.88	4.94	2.99	0.34606	.	0.642001	0.14575	N	0.311237	T	0.39384	0.1076	L	0.46157	1.445	0.80722	D	1	B;P;P;D	0.54397	0.073;0.93;0.868;0.966	B;B;B;P	0.48030	0.064;0.289;0.289;0.564	T	0.16719	-1.0393	9	.	.	.	0.1833	7.6943	0.28585	0.0:0.1812:0.631:0.1878	.	15;15;15;15	B4E3W9;B4DUQ2;C9J435;Q9H0M4	.;.;.;ZCPW1_HUMAN	R	15	ENSP00000381109:P15R;ENSP00000354210:P15R	.	P	-	2	0	ZCWPW1	99855427	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	1.770000	0.38532	1.428000	0.47296	0.655000	0.94253	CCA		0.448	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	NM_017984	
FOXP2	93986	broad.mit.edu	37	7	114304409	114304409	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr7:114304409G>A	ENST00000393494.2	+	16	2200	c.1921G>A	c.(1921-1923)Gtc>Atc	p.V641I	FOXP2_ENST00000393498.2_Missense_Mutation_p.V620I|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000408937.3_Missense_Mutation_p.V666I|FOXP2_ENST00000403559.4_Missense_Mutation_p.V658I|FOXP2_ENST00000350908.4_Missense_Mutation_p.V641I|FOXP2_ENST00000393489.3_Missense_Mutation_p.V549I|FOXP2_ENST00000393491.3_Missense_Mutation_p.V456I			O15409	FOXP2_HUMAN	forkhead box P2	641					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						ACTGCAGGCCGTCCACGAAGA	0.483																																						uc003vhb.3																			0				breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(1921-1923)Gtc>Atc		Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.							91.0	82.0	85.0					7																	114304409		2203	4300	6503	SO:0001583	missense	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114304409G>A	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.1921G>A	7.37:g.114304409G>A	ENSP00000377132:p.Val641Ile					FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_Missense_Mutation_p.V666I|FOXP2_uc003vha.3_Missense_Mutation_p.V549I|FOXP2_uc011kmv.2_Missense_Mutation_p.V640I|FOXP2_uc011kmu.2_Missense_Mutation_p.V658I|FOXP2_uc010ljz.2_Missense_Mutation_p.V456I	p.V641I	NM_014491	NP_055306	O15409	FOXP2_HUMAN			15	2295	+			641					A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Missense_Mutation	SNP	ENST00000393494.2	37	c.1921G>A	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	G	7.019	0.558337	0.13436	.	.	ENSG00000128573	ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000393489;ENST00000393491	D;D;D;D;D;D	0.91180	-2.52;-2.53;-2.53;-2.52;-2.59;-2.8	5.57	5.57	0.84162	.	0.180845	0.48286	D	0.000188	T	0.77844	0.4191	N	0.01874	-0.695	0.80722	D	1	B;B;B;B;B	0.25235	0.001;0.002;0.121;0.001;0.004	B;B;B;B;B	0.22152	0.001;0.001;0.038;0.001;0.002	T	0.74990	-0.3475	10	0.11794	T	0.64	.	19.5416	0.95277	0.0:0.0:1.0:0.0	.	640;658;456;641;666	B7ZLK5;B4DLD9;Q0PRL4;O15409;O15409-4	.;.;.;FOXP2_HUMAN;.	I	641;666;658;641;618;549;456	ENSP00000377132:V641I;ENSP00000386200:V666I;ENSP00000385069:V658I;ENSP00000265436:V641I;ENSP00000377129:V549I;ENSP00000377130:V456I	ENSP00000265436:V641I	V	+	1	0	FOXP2	114091645	1.000000	0.71417	0.960000	0.40013	0.950000	0.60333	3.026000	0.49689	2.614000	0.88457	0.655000	0.94253	GTC		0.483	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491	
TES	26136	broad.mit.edu	37	7	115889085	115889085	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr7:115889085G>A	ENST00000358204.4	+	3	340	c.125G>A	c.(124-126)cGt>cAt	p.R42H	AC002066.1_ENST00000446355.2_RNA|TES_ENST00000485009.1_3'UTR|AC073130.3_ENST00000444244.1_RNA|TES_ENST00000537767.1_Intron|TES_ENST00000393481.2_Missense_Mutation_p.R33H	NM_015641.3	NP_056456.1	Q9UGI8	TES_HUMAN	testis derived transcript (3 LIM domains)	42	Cys-rich.				negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			AAAATATGTCGTAACTGCAAG	0.313																																						uc003vho.3																			0				endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(124-126)cGt>cAt		Homo sapiens testis derived transcript (3 LIM domains) (TES), transcript variant 1, mRNA.							36.0	37.0	37.0					7																	115889085		2203	4300	6503	SO:0001583	missense	26136				negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding	g.chr7:115889085G>A	AJ250865	CCDS5763.1, CCDS5764.1	7q31.2	2004-04-20			ENSG00000135269	ENSG00000135269			14620	protein-coding gene	gene with protein product		606085				10950921	Standard	NM_015641		Approved	DKFZP586B2022, TESS-2, TESTIN	uc003vho.3	Q9UGI8	OTTHUMG00000023092	ENST00000358204.4:c.125G>A	7.37:g.115889085G>A	ENSP00000350937:p.Arg42His					TES_uc011kmx.2_Missense_Mutation_p.R42H|TES_uc011kmy.2_Intron|TES_uc010lka.2_Missense_Mutation_p.R33H|TES_uc003vhp.3_Missense_Mutation_p.R33H|TES_uc022aki.1_Non-coding_Transcript	p.R42H	NM_015641	NP_690042	Q9UGI8	TES_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		2	340	+	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	42			Cys-rich.		A4D0U6|Q9GZQ1|Q9HAJ9	Missense_Mutation	SNP	ENST00000358204.4	37	c.125G>A	CCDS5763.1	.	.	.	.	.	.	.	.	.	.	G	33	5.234131	0.95207	.	.	ENSG00000135269	ENST00000358204;ENST00000257721;ENST00000393481	T;T	0.29917	1.55;1.55	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000004	T	0.61009	0.2313	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.73380	0.98;0.886	T	0.66795	-0.5833	10	0.87932	D	0	-14.4317	19.1326	0.93413	0.0:0.0:1.0:0.0	.	42;42	B7Z5L5;Q9UGI8	.;TES_HUMAN	H	42;42;33	ENSP00000350937:R42H;ENSP00000377121:R33H	ENSP00000257721:R42H	R	+	2	0	TES	115676321	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.581000	0.87130	0.650000	0.86243	CGT		0.313	TES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059413.2	NM_015641	
WDR91	29062	broad.mit.edu	37	7	134878049	134878049	+	Silent	SNP	G	G	T	rs201469951		TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr7:134878049G>T	ENST00000354475.4	-	11	1624	c.1593C>A	c.(1591-1593)ggC>ggA	p.G531G	WDR91_ENST00000344400.5_Silent_p.G531G|WDR91_ENST00000485942.1_5'Flank|WDR91_ENST00000423565.1_Silent_p.G496G	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	531										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						TGCCCTTGCTGCCGATGTCTG	0.622																																						uc003vsp.2																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						c.(1591-1593)ggC>ggA		Homo sapiens WD repeat domain 91 (WDR91), mRNA.							64.0	59.0	61.0					7																	134878049		2203	4300	6503	SO:0001819	synonymous_variant	29062							g.chr7:134878049G>T	AF161534	CCDS34758.1	7q33	2013-01-09			ENSG00000105875	ENSG00000105875		"""WD repeat domain containing"""	24997	protein-coding gene	gene with protein product						11042152, 11230166	Standard	NM_014149		Approved	HSPC049	uc003vsp.2	A4D1P6	OTTHUMG00000155414	ENST00000354475.4:c.1593C>A	7.37:g.134878049G>T						WDR91_uc010lmr.2_Non-coding_Transcript|WDR91_uc010lmq.2_Silent_p.G120G	p.G531G	NM_014149	NP_054868	A4D1P6	WDR91_HUMAN			10	1655	-			531					A6NK54|C9JMI4|Q6FI65|Q6MZQ1|Q6P4I1|Q96AE5|Q96G63|Q9H062|Q9H9B6|Q9NVG7|Q9NZY6	Silent	SNP	ENST00000354475.4	37	c.1593C>A	CCDS34758.1																																																																																				0.622	WDR91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340019.1	NM_014149	
HTR5A	3361	broad.mit.edu	37	7	154863097	154863097	+	Missense_Mutation	SNP	C	C	T	rs150537072	byFrequency	TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr7:154863097C>T	ENST00000287907.2	+	1	1064	c.488C>T	c.(487-489)gCg>gTg	p.A163V	HTR5A-AS1_ENST00000395731.2_5'UTR|HTR5A-AS1_ENST00000493904.1_5'UTR|HTR5A-AS1_ENST00000543018.1_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	163					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	GTCATGATCGCGCTCACCTGG	0.627													C|||	6	0.00119808	0.0045	0.0	5008	,	,		18925	0.0		0.0	False		,,,				2504	0.0					uc003wlu.1																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48						c.(487-489)gCg>gTg		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.		C	VAL/ALA	25,4381	32.6+/-62.9	0,25,2178	101.0	74.0	83.0		488	-1.6	0.0	7	dbSNP_134	83	1,8599	1.2+/-3.3	0,1,4299	yes	missense	HTR5A	NM_024012.2	64	0,26,6477	TT,TC,CC		0.0116,0.5674,0.1999	benign	163/358	154863097	26,12980	2203	4300	6503	SO:0001583	missense	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154863097C>T		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5300	protein-coding gene	gene with protein product		601305	"""5-hydroxytryptamine (serotonin) receptor 5A"""			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.488C>T	7.37:g.154863097C>T	ENSP00000287907:p.Ala163Val					LOC100128264_uc003wlt.2_5'UTR|LOC100128264_uc011kvt.1_5'UTR	p.A163V	NM_024012	NP_076917	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	0	552	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	163					Q2M2D2	Missense_Mutation	SNP	ENST00000287907.2	37	c.488C>T	CCDS5936.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	C	4.817	0.151897	0.09185	0.005674	1.16E-4	ENSG00000157219	ENST00000287907	T	0.38077	1.16	4.75	-1.56	0.08532	GPCR, rhodopsin-like superfamily (1);	1.020240	0.07783	N	0.953679	T	0.17066	0.0410	L	0.35542	1.07	0.09310	N	1	B	0.11235	0.004	B	0.13407	0.009	T	0.30238	-0.9985	10	0.15499	T	0.54	.	7.24	0.26092	0.0:0.3541:0.1188:0.5271	.	163	P47898	5HT5A_HUMAN	V	163	ENSP00000287907:A163V	ENSP00000287907:A163V	A	+	2	0	HTR5A	154494030	0.000000	0.05858	0.002000	0.10522	0.337000	0.28794	-0.280000	0.08468	-0.584000	0.05913	-0.140000	0.14226	GCG		0.627	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012	
PTK2B	2185	broad.mit.edu	37	8	27310672	27310672	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr8:27310672G>A	ENST00000397501.1	+	33	3398	c.2590G>A	c.(2590-2592)Gca>Aca	p.A864T	PTK2B_ENST00000517339.1_Missense_Mutation_p.A822T|PTK2B_ENST00000338238.4_Missense_Mutation_p.A822T|PTK2B_ENST00000544172.1_Missense_Mutation_p.A864T|PTK2B_ENST00000346049.5_Missense_Mutation_p.A864T|PTK2B_ENST00000420218.2_Missense_Mutation_p.A822T	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	864	Interaction with TGFB1I1. {ECO:0000250}.|Pro-rich.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	GAGGCTGGGCGCACAGGTATG	0.517																																						uc003xfn.2																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(2590-2592)Gca>Aca		Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.							62.0	67.0	65.0					8																	27310672		2203	4300	6503	SO:0001583	missense	2185				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	g.chr8:27310672G>A	U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"""protein tyrosine kinase 2 beta"", ""PTK2B protein tyrosine kinase 2 beta"""	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.2590G>A	8.37:g.27310672G>A	ENSP00000380638:p.Ala864Thr					PTK2B_uc022ate.1_Missense_Mutation_p.A864T|PTK2B_uc003xfp.2_Missense_Mutation_p.A864T|PTK2B_uc003xfq.2_Missense_Mutation_p.A822T	p.A864T	NM_173174	NP_775268	Q14289	FAK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	32	3398	+		Ovarian(32;2.72e-05)	864			Interaction with TGFB1I1 (By similarity).|Pro-rich.		D3DST0|Q13475|Q14290|Q16709|Q6PID4	Missense_Mutation	SNP	ENST00000397501.1	37	c.2590G>A	CCDS6057.1	.	.	.	.	.	.	.	.	.	.	G	9.946	1.218732	0.22373	.	.	ENSG00000120899	ENST00000397501;ENST00000338238;ENST00000544172;ENST00000346049;ENST00000420218;ENST00000517339	T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51	5.79	4.92	0.64577	Focal adhesion kinase, targeting (FAT) domain (1);	0.213930	0.47455	N	0.000239	T	0.27205	0.0667	M	0.68952	2.095	0.49687	D	0.999819	P;B	0.48016	0.904;0.03	B;B	0.35727	0.209;0.013	T	0.10706	-1.0618	10	0.17832	T	0.49	.	12.44	0.55619	0.0805:0.0:0.9195:0.0	.	822;864	Q14289-2;Q14289	.;FAK2_HUMAN	T	864;822;864;864;822;822	ENSP00000380638:A864T;ENSP00000342242:A822T;ENSP00000440926:A864T;ENSP00000332816:A864T;ENSP00000391995:A822T;ENSP00000427931:A822T	ENSP00000342242:A822T	A	+	1	0	PTK2B	27366589	0.825000	0.29262	0.068000	0.19968	0.091000	0.18340	2.088000	0.41663	1.444000	0.47605	0.655000	0.94253	GCA		0.517	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1	NM_004103	
TEX15	56154	broad.mit.edu	37	8	30705979	30705979	+	Silent	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr8:30705979G>A	ENST00000256246.2	-	1	629	c.555C>T	c.(553-555)tcC>tcT	p.S185S	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	185					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.S185S(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AAGCATTACCGGACTCCTGTT	0.413																																						uc003xil.3																			1	Substitution - coding silent(1)	p.S185S(2)	lung(1)	NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(553-555)tcC>tcT		Homo sapiens testis expressed 15 (TEX15), mRNA.							53.0	56.0	55.0					8																	30705979		2203	4300	6503	SO:0001819	synonymous_variant	56154							g.chr8:30705979G>A	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.555C>T	8.37:g.30705979G>A							p.S185S	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	0	555	-			185						Silent	SNP	ENST00000256246.2	37	c.555C>T	CCDS6080.1																																																																																				0.413	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1		
HAUS6	54801	broad.mit.edu	37	9	19050150	19050150	+	IGR	SNP	T	T	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr9:19050150T>A	ENST00000380502.3	-	0	6536				RRAGA_ENST00000380527.1_Missense_Mutation_p.W165R	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6						centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AACGTCCATCTGGGATGAGAC	0.522																																						uc003znj.3																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(493-495)Tgg>Agg		Homo sapiens Ras-related GTP binding A (RRAGA), mRNA.							64.0	62.0	63.0					9																	19050150		2203	4300	6503	SO:0001628	intergenic_variant	10670				apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of cytolysis|positive regulation of TOR signaling cascade|virus-host interaction	Golgi apparatus|lysosome|nucleus	GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity	g.chr9:19050150T>A	AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622		9.37:g.19050150T>A							p.W165R	NM_006570	NP_006561	Q7L523	RRAGA_HUMAN			0	779	+			165					B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	ENST00000380502.3	37	c.493T>A	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	T	19.24	3.788842	0.70337	.	.	ENSG00000155876	ENST00000380527	T	0.70399	-0.48	4.45	4.45	0.53987	.	0.000000	0.85682	D	0.000000	D	0.87346	0.6154	H	0.94345	3.525	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90237	0.4283	10	0.87932	D	0	-4.7109	12.3379	0.55077	0.0:0.0:0.0:1.0	.	165	Q7L523	RRAGA_HUMAN	R	165	ENSP00000369899:W165R	ENSP00000369899:W165R	W	+	1	0	RRAGA	19040150	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.457000	0.80775	2.236000	0.73375	0.533000	0.62120	TGG		0.522	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645	
CCL19	6363	broad.mit.edu	37	9	34690006	34690006	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr9:34690006C>T	ENST00000311925.2	-	3	334	c.197G>A	c.(196-198)aGg>aAg	p.R66K	CCL19_ENST00000378800.3_Missense_Mutation_p.R66K|CCL19_ENST00000485502.1_5'UTR	NM_006274.2	NP_006265.1	Q99731	CCL19_HUMAN	chemokine (C-C motif) ligand 19	66					activation of JUN kinase activity (GO:0007257)|cell communication (GO:0007154)|cell maturation (GO:0048469)|cellular calcium ion homeostasis (GO:0006874)|dendritic cell chemotaxis (GO:0002407)|establishment of T cell polarity (GO:0001768)|immune response (GO:0006955)|immunological synapse formation (GO:0001771)|inflammatory response (GO:0006954)|interleukin-12 secretion (GO:0072610)|mature dendritic cell differentiation (GO:0097029)|myeloid dendritic cell chemotaxis (GO:0002408)|negative regulation of leukocyte apoptotic process (GO:2000107)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cell motility (GO:2000147)|positive regulation of chemotaxis (GO:0050921)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell dendrite assembly (GO:2000549)|positive regulation of endocytosis (GO:0045807)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycoprotein biosynthetic process (GO:0010560)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell projection assembly (GO:0060491)|release of sequestered calcium ion into cytosol (GO:0051209)|response to nitric oxide (GO:0071731)|response to organic cyclic compound (GO:0014070)|response to prostaglandin E (GO:0034695)|response to virus (GO:0009615)|T cell costimulation (GO:0031295)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR chemokine receptor binding (GO:0048020)|CCR10 chemokine receptor binding (GO:0031735)|CCR7 chemokine receptor binding (GO:0031732)|chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)					all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		CTGGCGGCCCCTCAGTGTGGT	0.622																																					Melanoma(129;177 1723 4710 11020 27705)	uc003zvn.3																			0											c.(196-198)aGg>aAg		Homo sapiens chemokine (C-C motif) ligand 19 (CCL19), mRNA.							46.0	45.0	45.0					9																	34690006		2203	4300	6503	SO:0001583	missense	6363				activation of JUN kinase activity|cell communication|cell maturation|establishment of T cell polarity|immune response|immunological synapse formation|inflammatory response|interleukin-12 secretion|myeloid dendritic cell chemotaxis|negative regulation of leukocyte apoptosis|positive regulation of Cdc42 GTPase activity|positive regulation of dendritic cell antigen processing and presentation|positive regulation of ERK1 and ERK2 cascade|positive regulation of glycoprotein biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of neutrophil chemotaxis|positive regulation of NF-kappaB import into nucleus|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of receptor-mediated endocytosis|positive regulation of T cell proliferation|positive regulation of T-helper 1 cell differentiation|positive regulation of tumor necrosis factor production|regulation of cell projection assembly|release of sequestered calcium ion into cytosol|response to nitric oxide|response to prostaglandin E stimulus|response to virus|T cell costimulation	extracellular space	CCR10 chemokine receptor binding|CCR7 chemokine receptor binding|chemokine activity	g.chr9:34690006C>T	AB000887	CCDS6570.1	9p13	2014-05-14	2002-08-22	2002-08-23	ENSG00000172724	ENSG00000172724		"""Chemokine ligands"", ""Endogenous ligands"""	10617	protein-coding gene	gene with protein product	"""CC chemokine ligand 19"", ""macrophage inflammatory protein 3-beta"", ""beta chemokine exodus-3"", ""CK beta-11"", ""EBI1-ligand chemokine"""	602227	"""small inducible cytokine subfamily A (Cys-Cys), member 19"""	SCYA19		9153236	Standard	NM_006274		Approved	ELC, MIP-3b, exodus-3, CKb11	uc003zvn.3	Q99731	OTTHUMG00000019833	ENST00000311925.2:c.197G>A	9.37:g.34690006C>T	ENSP00000308815:p.Arg66Lys					CCL19_uc010mkf.3_Intron	p.R66K	NM_006274	NP_006265	Q99731	CCL19_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)	2	335	-	all_epithelial(49;0.102)		66					O00697|O00736	Missense_Mutation	SNP	ENST00000311925.2	37	c.197G>A	CCDS6570.1	.	.	.	.	.	.	.	.	.	.	C	0.024	-1.389284	0.01185	.	.	ENSG00000172724	ENST00000311925;ENST00000378800	T;T	0.03889	3.77;3.77	5.09	-0.336	0.12658	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.267395	0.34507	N	0.003908	T	0.01765	0.0056	.	.	.	0.09310	N	1	B	0.11235	0.004	B	0.15052	0.012	T	0.48258	-0.9051	9	0.02654	T	1	-2.8754	7.3624	0.26754	0.0:0.4558:0.0:0.5442	.	66	Q99731	CCL19_HUMAN	K	66	ENSP00000308815:R66K;ENSP00000368077:R66K	ENSP00000308815:R66K	R	-	2	0	CCL19	34680006	0.037000	0.19845	0.003000	0.11579	0.340000	0.28889	0.381000	0.20619	0.047000	0.15862	-0.229000	0.12294	AGG		0.622	CCL19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052225.1	NM_006274	
PAX5	5079	broad.mit.edu	37	9	36846902	36846902	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr9:36846902T>C	ENST00000358127.4	-	9	1111	c.1037A>G	c.(1036-1038)tAc>tGc	p.Y346C	PAX5_ENST00000522003.1_Missense_Mutation_p.Y238C|PAX5_ENST00000377847.2_Intron|PAX5_ENST00000520281.1_Intron|PAX5_ENST00000523241.1_Missense_Mutation_p.T269A|PAX5_ENST00000377852.2_Missense_Mutation_p.Y312C|PAX5_ENST00000523145.1_Intron|PAX5_ENST00000520154.1_Intron|PAX5_ENST00000414447.1_Missense_Mutation_p.Y303C|PAX5_ENST00000377853.2_Intron|PAX5_ENST00000446742.1_Missense_Mutation_p.Y246C	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	346					humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.?(11)|p.Y346C(1)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		AGGGTGGCTGTAGGGACTCCC	0.597			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""																																	uc003zzo.1				Dom	yes		9	9p13	5079	"""T, Mis, D, F, S"""	paired box gene 5 (B-cell lineage specific activator protein)			L	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""		"""NHL, ALL, B-ALL"""	PAX5/JAK2(18)	12	Unknown(11)|Substitution - Missense(1)	p.?(11)|p.Y346C(2)	haematopoietic_and_lymphoid_tissue(11)|central_nervous_system(1)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171						c.(1036-1038)tAc>tGc		Homo sapiens paired box 5 (PAX5), mRNA.							69.0	66.0	67.0					9																	36846902		2203	4300	6503	SO:0001583	missense	5079				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr9:36846902T>C		CCDS6607.1, CCDS65039.1, CCDS65040.1, CCDS65041.1, CCDS65042.1, CCDS65043.1, CCDS65044.1, CCDS65045.1, CCDS65046.1, CCDS65047.1, CCDS65048.1	9p13.2	2011-06-20	2007-07-12		ENSG00000196092	ENSG00000196092		"""Paired boxes"", ""Homeoboxes / PRD class"""	8619	protein-coding gene	gene with protein product	"""B-cell lineage specific activator"""	167414	"""paired box gene 5 (B-cell lineage specific activator protein)"", ""paired box gene 5 (B-cell lineage specific activator)"""			1516825, 8431641	Standard	NM_016734		Approved	BSAP	uc003zzo.1	Q02548	OTTHUMG00000019907	ENST00000358127.4:c.1037A>G	9.37:g.36846902T>C	ENSP00000350844:p.Tyr346Cys					PAX5_uc011lpt.1_Missense_Mutation_p.Y142C|PAX5_uc011lpu.1_Non-coding_Transcript|PAX5_uc011lpv.1_Intron|PAX5_uc011lqc.1_Intron|PAX5_uc010mlr.1_Missense_Mutation_p.T269A|PAX5_uc011lpw.1_Intron|PAX5_uc011lpx.1_Missense_Mutation_p.Y246C|PAX5_uc011lpy.1_Intron|PAX5_uc010mls.1_Intron|PAX5_uc011lpz.1_Missense_Mutation_p.Y303C|PAX5_uc011lqa.1_Missense_Mutation_p.Y238C|PAX5_uc010mlq.1_Non-coding_Transcript|PAX5_uc011lqb.1_Non-coding_Transcript|PAX5_uc010mlo.1_Missense_Mutation_p.Y312C|PAX5_uc010mlp.1_Intron	p.Y346C	NM_016734	NP_057953	Q02548	PAX5_HUMAN		GBM - Glioblastoma multiforme(29;0.0108)	8	1485	-		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)	346					A3QVP6|A3QVP7|A3QVP8|C0KTF6|C0KTF7|C0KTF8|C0KTF9|C0KTG0|O75933|Q5SFM2|Q6S728|Q6S729|Q6S730|Q6S731|Q6S732	Missense_Mutation	SNP	ENST00000358127.4	37	c.1037A>G	CCDS6607.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.31|19.31	3.802494|3.802494	0.70682|0.70682	.|.	.|.	ENSG00000196092|ENSG00000196092	ENST00000523241|ENST00000358127;ENST00000377849;ENST00000377852;ENST00000446742;ENST00000522003;ENST00000414447;ENST00000524340	D|T;T;T;T;T;T	0.97731|0.53857	-4.51|0.6;0.6;0.6;0.6;0.6;0.6	5.52|5.52	4.35|4.35	0.52113|0.52113	.|.	.|0.201442	.|0.43747	.|D	.|0.000540	T|T	0.69006|0.69006	0.3063|0.3063	M|M	0.73217|0.73217	2.22|2.22	0.80722|0.80722	D|D	1|1	B|D;D;D;D;D	0.16603|0.89917	0.018|1.0;1.0;1.0;0.999;0.999	B|D;D;D;D;D	0.14578|0.91635	0.011|0.946;0.998;0.999;0.996;0.996	T|T	0.68584|0.68584	-0.5370|-0.5370	9|10	0.41790|0.46703	T|T	0.15|0.11	.|.	11.5711|11.5711	0.50834|0.50834	0.0:0.0:0.1499:0.8501|0.0:0.0:0.1499:0.8501	.|.	269|303;246;173;312;346	E7EQT0|C0KTF7;C0KTF9;C0KTE2;Q6S731;Q02548	.|.;.;.;.;PAX5_HUMAN	A|C	269|346;257;312;246;238;303;173	ENSP00000429637:T269A|ENSP00000350844:Y346C;ENSP00000367083:Y312C;ENSP00000404687:Y246C;ENSP00000429359:Y238C;ENSP00000412188:Y303C;ENSP00000429404:Y173C	ENSP00000429637:T269A|ENSP00000350844:Y346C	T|Y	-|-	1|2	0|0	PAX5|PAX5	36836902|36836902	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	6.680000|6.680000	0.74518|0.74518	0.883000|0.883000	0.36040|0.36040	0.459000|0.459000	0.35465|0.35465	ACA|TAC		0.597	PAX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052433.1		
RAD23B	5887	broad.mit.edu	37	9	110084309	110084309	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr9:110084309C>T	ENST00000358015.3	+	7	1078	c.727C>T	c.(727-729)Caa>Taa	p.Q243*	RAD23B_ENST00000416373.2_Nonsense_Mutation_p.Q171*	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	243					DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|XPC complex (GO:0071942)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						TGACCCCCCTCAAGCAGCTAG	0.458								Direct reversal of damage;Nucleotide excision repair (NER)																														uc004bde.3																			0				breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(727-729)Caa>Taa	Direct reversal of damage;Nucleotide excision repair (NER)	Homo sapiens RAD23 homolog B (S. cerevisiae) (RAD23B), transcript variant 1, mRNA.							47.0	48.0	48.0					9																	110084309		2203	4300	6503	SO:0001587	stop_gained	5887				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding	g.chr9:110084309C>T		CCDS6769.1, CCDS59138.1	9q31.2	2008-07-21	2001-11-28		ENSG00000119318	ENSG00000119318			9813	protein-coding gene	gene with protein product	"""XP-C repair complementing protein"", ""XP-C repair complementing complex 58 kDa"""	600062	"""RAD23 (S. cerevisiae) homolog B"""			7851894, 8168482	Standard	NM_002874		Approved	HHR23B, P58, HR23B	uc004bde.3	P54727	OTTHUMG00000020446	ENST00000358015.3:c.727C>T	9.37:g.110084309C>T	ENSP00000350708:p.Gln243*					RAD23B_uc011lwa.2_Nonsense_Mutation_p.Q243*|RAD23B_uc022blj.1_Nonsense_Mutation_p.Q171*|RAD23B_uc011lwb.2_Nonsense_Mutation_p.Q222*	p.Q243*	NM_002874	NP_002865	P54727	RD23B_HUMAN			6	1121	+			243					B3KWK8|G5E9P0|Q7Z5K8|Q8WUB0	Nonsense_Mutation	SNP	ENST00000358015.3	37	c.727C>T	CCDS6769.1	.	.	.	.	.	.	.	.	.	.	C	40	7.969147	0.98588	.	.	ENSG00000119318	ENST00000358015;ENST00000416373	.	.	.	5.28	5.28	0.74379	.	0.803616	0.11034	N	0.606887	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-6.9684	19.2797	0.94048	0.0:1.0:0.0:0.0	.	.	.	.	X	243;171	.	ENSP00000350708:Q243X	Q	+	1	0	RAD23B	109124130	1.000000	0.71417	0.995000	0.50966	0.972000	0.66771	5.249000	0.65427	2.626000	0.88956	0.555000	0.69702	CAA		0.458	RAD23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053548.1	NM_002874	
C9orf91	203197	broad.mit.edu	37	9	117396107	117396107	+	Silent	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr9:117396107G>A	ENST00000288502.4	+	6	971	c.534G>A	c.(532-534)cgG>cgA	p.R178R	C9orf91_ENST00000374049.4_Silent_p.R179R			Q5VZI3	CI091_HUMAN	chromosome 9 open reading frame 91	178						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	13						TGAGACACCGGGTGCTGCTGG	0.567																																						uc004bjd.4																			0				endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	13						c.(532-534)cgG>cgA		Homo sapiens chromosome 9 open reading frame 91 (C9orf91), mRNA.							106.0	90.0	95.0					9																	117396107		2203	4300	6503	SO:0001819	synonymous_variant	203197					integral to membrane		g.chr9:117396107G>A	BX649023	CCDS6808.1	9q33.1	2008-02-05			ENSG00000157693	ENSG00000157693			24513	protein-coding gene	gene with protein product						14702039	Standard	NM_153045		Approved	DKFZp547P234, FLJ38045	uc004bjd.4	Q5VZI3	OTTHUMG00000020541	ENST00000288502.4:c.534G>A	9.37:g.117396107G>A						C9orf91_uc004bje.4_Silent_p.R157R|C9orf91_uc004bjf.4_Silent_p.R77R	p.R178R	NM_153045	NP_694590	Q5VZI3	CI091_HUMAN			5	751	+			178					A0PJA3|Q3KNS4|Q5VZI2|Q6P5Z7|Q8N1P3|Q8ND43	Silent	SNP	ENST00000288502.4	37	c.534G>A	CCDS6808.1																																																																																				0.567	C9orf91-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053780.1	NM_153045	
SEC16A	9919	broad.mit.edu	37	9	139358176	139358176	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr9:139358176G>A	ENST00000371706.3	-	8	3962	c.3929C>T	c.(3928-3930)aCg>aTg	p.T1310M	SEC16A_ENST00000431893.2_Missense_Mutation_p.T1310M|SEC16A_ENST00000313050.7_Missense_Mutation_p.T1488M|SEC16A_ENST00000290037.6_Missense_Mutation_p.T1310M			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1310					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CTGCTCAGACGTGTGCTGCAG	0.647																																						uc004chx.3																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(4462-4464)aCg>aTg		Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.							61.0	70.0	67.0					9																	139358176		2070	4198	6268	SO:0001583	missense	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139358176G>A	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.3929C>T	9.37:g.139358176G>A	ENSP00000360771:p.Thr1310Met					SEC16A_uc004chv.4_Missense_Mutation_p.T878M|SEC16A_uc004chw.3_Missense_Mutation_p.T1488M|SEC16A_uc010nbn.3_Missense_Mutation_p.T1488M	p.T1488M	NM_014866	NP_055681	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	9	4772	-		Myeloproliferative disorder(178;0.0511)	1310					A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	ENST00000371706.3	37	c.4463C>T		.	.	.	.	.	.	.	.	.	.	G	16.71	3.199149	0.58126	.	.	ENSG00000148396	ENST00000313050;ENST00000453963;ENST00000371706;ENST00000290037;ENST00000431893;ENST00000404925	T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86	5.99	1.76	0.24704	.	0.331335	0.35677	N	0.003055	T	0.55737	0.1939	L	0.50333	1.59	0.39409	D	0.966716	D;D;D;D	0.71674	0.96;0.994;0.994;0.998	B;P;P;D	0.65010	0.24;0.817;0.817;0.931	T	0.50608	-0.8808	10	0.33940	T	0.23	-8.6793	10.9126	0.47118	0.0751:0.4901:0.4348:0.0	.	1488;1310;1310;878	F1T0I1;O15027-5;O15027-4;A4QN19	.;.;.;.	M	1488;210;1310;1310;1310;878	ENSP00000325827:T1488M;ENSP00000403525:T210M;ENSP00000360771:T1310M;ENSP00000290037:T1310M;ENSP00000387583:T1310M	ENSP00000290037:T1310M	T	-	2	0	SEC16A	138477997	0.945000	0.32115	0.080000	0.20451	0.822000	0.46500	1.511000	0.35801	0.048000	0.15891	0.609000	0.83330	ACG		0.647	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459	
