#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
MMEL1	79258	broad.mit.edu	37	1	2524105	2524105	+	Missense_Mutation	SNP	G	G	T	rs201706260		TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr1:2524105G>T	ENST00000378412.3	-	21	2217	c.2056C>A	c.(2056-2058)Caa>Aaa	p.Q686K	MMEL1_ENST00000288709.6_Missense_Mutation_p.Q677K|MMEL1_ENST00000502556.1_Missense_Mutation_p.Q529K			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	686						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		TTATAGGCTTGCCGCACCCCT	0.682																																						uc001ajy.2																			0					0						c.(2056-2058)CAA>AAA		membrane metallo-endopeptidase-like 1							38.0	31.0	33.0					1																	2524105		2202	4299	6501	SO:0001583	missense	79258				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	g.chr1:2524105G>T	AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"""membrane metallo-endopeptidase-like 2"""	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.2056C>A	1.37:g.2524105G>T	ENSP00000367668:p.Gln686Lys					MMEL1_uc009vlg.1_RNA	p.Q686K	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)	21	2270	-	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	686			Lumenal (Potential).		B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Missense_Mutation	SNP	ENST00000378412.3	37	c.2056C>A	CCDS30569.2	.	.	.	.	.	.	.	.	.	.	G	16.73	3.205131	0.58234	.	.	ENSG00000142606	ENST00000378411;ENST00000288709;ENST00000378412;ENST00000502556	D;D;D	0.90197	-2.63;-2.63;-2.63	4.33	4.33	0.51752	Peptidase M13, neprilysin, C-terminal (2);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95121	0.8419	M	0.82132	2.575	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.95639	0.8696	10	0.66056	D	0.02	-22.4105	15.561	0.76244	0.0:0.0:1.0:0.0	.	686	Q495T6	MMEL1_HUMAN	K	529;677;686;529	ENSP00000288709:Q677K;ENSP00000367668:Q686K;ENSP00000422492:Q529K	ENSP00000288709:Q677K	Q	-	1	0	MMEL1	2513965	1.000000	0.71417	0.864000	0.33941	0.012000	0.07955	7.456000	0.80751	2.231000	0.72958	0.561000	0.74099	CAA		0.682	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467	
ACTRT2	140625	broad.mit.edu	37	1	2939073	2939073	+	Missense_Mutation	SNP	G	G	A	rs201977075		TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr1:2939073G>A	ENST00000378404.2	+	1	1028	c.823G>A	c.(823-825)Ggg>Agg	p.G275R		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	275						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CCAGAGCCCCGGGCTCTCGAA	0.627																																						uc001ajz.2																			0					0						c.(823-825)GGG>AGG		actin-related protein M2		G	ARG/GLY	0,4400		0,0,2200	49.0	59.0	56.0		823	4.7	0.1	1		56	1,8589		0,1,4294	no	missense	ACTRT2	NM_080431.4	125	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	275/378	2939073	1,12989	2200	4295	6495	SO:0001583	missense	140625					cytoplasm|cytoskeleton		g.chr1:2939073G>A	AF440740, AB057364	CCDS45.1	1p36.3	2008-02-05	2005-11-22		ENSG00000169717	ENSG00000169717			24026	protein-coding gene	gene with protein product		608535				11750065, 12243744	Standard	NM_080431		Approved	Arp-T2, ARPM2, FLJ25424	uc001ajz.3	Q8TDY3	OTTHUMG00000000562	ENST00000378404.2:c.823G>A	1.37:g.2939073G>A	ENSP00000367658:p.Gly275Arg						p.G275R	NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)	1	1028	+	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	275					B1AN52|Q8NHS6|Q8TDG1	Missense_Mutation	SNP	ENST00000378404.2	37	c.823G>A	CCDS45.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.732500	0.48939	0.0	1.16E-4	ENSG00000169717	ENST00000378404;ENST00000543312	D	0.97352	-4.35	4.68	4.68	0.58851	.	0.000000	0.53938	D	0.000041	D	0.99155	0.9708	H	0.99197	4.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98643	1.0676	10	0.87932	D	0	.	14.3195	0.66476	0.0:0.0:1.0:0.0	.	275	Q8TDY3	ACTT2_HUMAN	R	275	ENSP00000367658:G275R	ENSP00000367658:G275R	G	+	1	0	ACTRT2	2928933	1.000000	0.71417	0.128000	0.21923	0.028000	0.11728	7.450000	0.80656	2.144000	0.66660	0.561000	0.74099	GGG		0.627	ACTRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001331.1	NM_080431	
FLG	2312	broad.mit.edu	37	1	152279722	152279722	+	Missense_Mutation	SNP	G	G	A	rs369029216		TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr1:152279722G>A	ENST00000368799.1	-	3	7675	c.7640C>T	c.(7639-7641)tCg>tTg	p.S2547L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2547	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S2547*(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCCACCTGCGAGTGTCCAGA	0.577									Ichthyosis				G|||	1	0.000199681	0.0	0.0	5008	,	,		19197	0.0		0.0	False		,,,				2504	0.001					uc001ezu.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(7639-7641)TCG>TTG		filaggrin							197.0	220.0	212.0					1																	152279722		2200	4300	6500	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152279722G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.7640C>T	1.37:g.152279722G>A	ENSP00000357789:p.Ser2547Leu						p.S2547L	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	7676	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2547			Ser-rich.|Filaggrin 15.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.7640C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.318738	0.23994	.	.	ENSG00000143631	ENST00000368799	T	0.09163	3.01	1.64	1.64	0.23874	.	.	.	.	.	T	0.04543	0.0124	M	0.78916	2.43	0.09310	N	1	B	0.32071	0.355	B	0.18561	0.022	T	0.22521	-1.0214	9	0.44086	T	0.13	.	6.8096	0.23796	0.0:0.0:1.0:0.0	.	2547	P20930	FILA_HUMAN	L	2547	ENSP00000357789:S2547L	ENSP00000357789:S2547L	S	-	2	0	FLG	150546346	0.010000	0.17322	0.002000	0.10522	0.015000	0.08874	1.040000	0.30278	1.230000	0.43646	0.306000	0.20318	TCG		0.577	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
NPR1	4881	broad.mit.edu	37	1	153660673	153660673	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr1:153660673G>A	ENST00000368680.3	+	15	2865	c.2393G>A	c.(2392-2394)cGc>cAc	p.R798H		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	798	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	CAGCAGATCCGCCTGACGTTG	0.602																																					Pancreas(141;1349 1870 15144 15830 40702)	uc001fcs.3																			0				ovary(3)|lung(2)|stomach(1)|breast(1)	7						c.(2392-2394)CGC>CAC		natriuretic peptide receptor 1 precursor	Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)						108.0	98.0	102.0					1																	153660673		2203	4300	6503	SO:0001583	missense	4881				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity	g.chr1:153660673G>A	BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"""guanylate cyclase A"""	108960	"""atrionatriuretic peptide receptor A"", ""natriuretic peptide receptor A"""	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.2393G>A	1.37:g.153660673G>A	ENSP00000357669:p.Arg798His					NPR1_uc010pdz.1_Missense_Mutation_p.R544H|NPR1_uc010pea.1_Missense_Mutation_p.R276H	p.R798H	NM_000906	NP_000897	P16066	ANPRA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		15	2814	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		798			Cytoplasmic (Potential).|Protein kinase.		B0ZBF0|Q5SR08|Q6P4Q3	Missense_Mutation	SNP	ENST00000368680.3	37	c.2393G>A	CCDS1051.1	.	.	.	.	.	.	.	.	.	.	g	17.66	3.443737	0.63067	.	.	ENSG00000169418	ENST00000368680;ENST00000428723	T	0.62364	0.03	4.45	3.53	0.40419	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.162693	0.33005	N	0.005397	T	0.57799	0.2078	M	0.66439	2.03	0.80722	D	1	D;P	0.54601	0.967;0.82	P;P	0.57425	0.82;0.455	T	0.58787	-0.7575	10	0.34782	T	0.22	.	7.391	0.26909	0.2052:0.0:0.7948:0.0	.	277;798	B7Z4Y7;P16066	.;ANPRA_HUMAN	H	798;277	ENSP00000357669:R798H	ENSP00000357669:R798H	R	+	2	0	NPR1	151927297	0.998000	0.40836	0.999000	0.59377	0.930000	0.56654	2.924000	0.48876	1.199000	0.43173	0.457000	0.33378	CGC		0.602	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906	
NPR1	4881	broad.mit.edu	37	1	153660684	153660684	+	Missense_Mutation	SNP	C	C	T	rs368538785		TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr1:153660684C>T	ENST00000368680.3	+	15	2876	c.2404C>T	c.(2404-2406)Cgc>Tgc	p.R802C		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	802	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	CCTGACGTTGCGCAAATTTAA	0.587																																					Pancreas(141;1349 1870 15144 15830 40702)	uc001fcs.3																			0				ovary(3)|lung(2)|stomach(1)|breast(1)	7						c.(2404-2406)CGC>TGC		natriuretic peptide receptor 1 precursor	Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)		CYS/ARG	0,4406		0,0,2203	107.0	97.0	100.0		2404	2.5	1.0	1		100	1,8599	1.2+/-3.3	0,1,4299	no	missense	NPR1	NM_000906.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	802/1062	153660684	1,13005	2203	4300	6503	SO:0001583	missense	4881				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity	g.chr1:153660684C>T	BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"""guanylate cyclase A"""	108960	"""atrionatriuretic peptide receptor A"", ""natriuretic peptide receptor A"""	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.2404C>T	1.37:g.153660684C>T	ENSP00000357669:p.Arg802Cys					NPR1_uc010pdz.1_Missense_Mutation_p.R548C|NPR1_uc010pea.1_Missense_Mutation_p.R280C	p.R802C	NM_000906	NP_000897	P16066	ANPRA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		15	2825	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		802			Cytoplasmic (Potential).|Protein kinase.		B0ZBF0|Q5SR08|Q6P4Q3	Missense_Mutation	SNP	ENST00000368680.3	37	c.2404C>T	CCDS1051.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768057	0.49680	0.0	1.16E-4	ENSG00000169418	ENST00000368680;ENST00000428723	T	0.62639	0.01	4.45	2.52	0.30459	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000005	T	0.51686	0.1689	M	0.91663	3.23	0.80722	D	1	B;P	0.41910	0.245;0.764	B;B	0.37015	0.072;0.239	T	0.61322	-0.7086	10	0.66056	D	0.02	.	6.6767	0.23098	0.182:0.7202:0.0:0.0978	.	281;802	B7Z4Y7;P16066	.;ANPRA_HUMAN	C	802;281	ENSP00000357669:R802C	ENSP00000357669:R802C	R	+	1	0	NPR1	151927308	1.000000	0.71417	0.998000	0.56505	0.908000	0.53690	4.270000	0.58896	1.167000	0.42706	0.457000	0.33378	CGC		0.587	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906	
F5	2153	broad.mit.edu	37	1	169519050	169519050	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr1:169519050G>A	ENST00000367797.3	-	10	1801	c.1600C>T	c.(1600-1602)Caa>Taa	p.Q534*	F5_ENST00000546081.1_3'UTR|F5_ENST00000367796.3_Nonsense_Mutation_p.Q534*	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	534	F5/8 type A 2.	Cleavage; by activated protein C.	R -> Q (in Leiden; associated with thrombophilia; associated with susceptibility to Budd-Chiari syndrome; associated with susceptibility to ischemic stroke; dbSNP:rs6025). {ECO:0000269|PubMed:10391209, ECO:0000269|PubMed:10942390, ECO:0000269|PubMed:16710414, ECO:0000269|PubMed:8164741, ECO:0000269|Ref.3}.		blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TGTATTCCTTGCCTGTCCAGG	0.428																																						uc001ggg.1																			0				ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(1600-1602)CGA>TGA		coagulation factor V precursor	Drotrecogin alfa(DB00055)						105.0	98.0	100.0					1																	169519050		2203	4300	6503	SO:0001587	stop_gained	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169519050G>A	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.1600C>T	1.37:g.169519050G>A	ENSP00000356771:p.Gln534*					F5_uc010plr.1_RNA	p.R534*	NM_000130	NP_000121	P12259	FA5_HUMAN			10	1745	-	all_hematologic(923;0.208)		534			F5/8 type A 2.	Cleavage; by activated protein C.	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Nonsense_Mutation	SNP	ENST00000367797.3	37	c.1600C>T	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	39	7.389277	0.98255	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	.	.	.	5.71	2.68	0.31781	.	0.291118	0.33023	N	0.005377	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-1.4446	15.1076	0.72332	0.0:0.0:0.3367:0.6632	.	.	.	.	X	534	.	ENSP00000356770:Q534X	Q	-	1	0	F5	167785674	0.973000	0.33851	0.270000	0.24601	0.951000	0.60555	1.684000	0.37649	0.288000	0.22398	0.655000	0.94253	CAA		0.428	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130	
CEP350	9857	broad.mit.edu	37	1	179991889	179991889	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr1:179991889G>A	ENST00000367607.3	+	13	3710	c.3292G>A	c.(3292-3294)Gca>Aca	p.A1098T		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1098					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GAATGCCACCGCAACTCCTCT	0.398																																						uc001gnt.2																			0				ovary(4)	4						c.(3292-3294)GCA>ACA		centrosome-associated protein 350							83.0	81.0	82.0					1																	179991889		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:179991889G>A	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.3292G>A	1.37:g.179991889G>A	ENSP00000356579:p.Ala1098Thr					CEP350_uc009wxl.2_Missense_Mutation_p.A1097T|CEP350_uc001gnu.2_Missense_Mutation_p.A932T	p.A1098T	NM_014810	NP_055625	Q5VT06	CE350_HUMAN			13	3675	+			1098					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.3292G>A	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	G	0.546	-0.851403	0.02651	.	.	ENSG00000135837	ENST00000367607	T	0.13657	2.57	5.43	-3.13	0.05266	.	0.266015	0.26355	N	0.024855	T	0.04092	0.0114	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31447	-0.9943	9	.	.	.	.	2.4984	0.04627	0.3552:0.2142:0.3264:0.1043	.	1098;1098	E7EU22;Q5VT06	.;CE350_HUMAN	T	1098	ENSP00000356579:A1098T	.	A	+	1	0	CEP350	178258512	0.007000	0.16637	0.000000	0.03702	0.534000	0.34807	0.539000	0.23175	-0.893000	0.03930	-0.350000	0.07774	GCA		0.398	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810	
PTEN	5728	broad.mit.edu	37	10	89692792	89692792	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr10:89692792C>A	ENST00000371953.3	+	5	1633	c.276C>A	c.(274-276)gaC>gaA	p.D92E		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	92	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.D92E(2)|p.Q87_P96del(1)|p.N82_P95del(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTTTTGAAGACCATAACCCAC	0.333		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		54	Whole gene deletion(37)|Deletion - Frameshift(8)|Unknown(5)|Substitution - Missense(2)|Deletion - In frame(2)	p.R55fs*1(4)|p.D92H(3)|p.D92V(2)|p.?(2)|p.Y27fs*1(2)|p.D92G(2)|p.D92N(2)|p.Y27_N212>Y(2)|p.D92fs*7(1)|p.D92Y(1)|p.D92E(1)|p.Q87_P96del(1)|p.D92A(1)|p.N82_P95del(1)|p.F90_P95>L(1)|p.F56fs*2(1)	prostate(16)|central_nervous_system(12)|lung(6)|skin(6)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	GRCh37	CM033666	PTEN	M		c.(274-276)GAC>GAA		phosphatase and tensin homolog							112.0	102.0	105.0					10																	89692792		2203	4300	6503	SO:0001583	missense	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692792C>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.276C>A	10.37:g.89692792C>A	ENSP00000361021:p.Asp92Glu	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.D92E	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1307	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	92	D->A: 700-fold reduction in phosphatase activity towards PtdIns(3,4,5)P3. Loss of protein phosphatase activity. Unable to inhibit focal adhesion formation.		Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.276C>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.047615	0.75846	.	.	ENSG00000171862	ENST00000371953	D	0.99422	-5.88	5.07	1.09	0.20402	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99542	0.9836	H	0.94734	3.575	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99764	1.1022	9	.	.	.	-9.7034	9.9879	0.41852	0.0:0.7188:0.0:0.2812	.	92	P60484	PTEN_HUMAN	E	92	ENSP00000361021:D92E	.	D	+	3	2	PTEN	89682772	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.304000	0.43655	0.169000	0.19679	0.655000	0.94253	GAC		0.333	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
TRAF6	7189	broad.mit.edu	37	11	36518817	36518817	+	Splice_Site	SNP	C	C	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr11:36518817C>A	ENST00000526995.1	-	4	694		c.e4-1		TRAF6_ENST00000529150.1_5'Flank|TRAF6_ENST00000348124.5_Splice_Site	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase						activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of protein kinase activity (GO:0032147)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic signaling pathway (GO:0097190)|bone resorption (GO:0045453)|cell development (GO:0048468)|cellular response to lipopolysaccharide (GO:0071222)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein autoubiquitination (GO:0051865)|protein complex assembly (GO:0006461)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of immunoglobulin secretion (GO:0051023)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	histone deacetylase binding (GO:0042826)|ligase activity (GO:0016874)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				CTTGATGATCCTATAATTAAA	0.363																																						uc001mwr.1																			0				ovary(1)	1						c.e5-1		TNF receptor-associated factor 6							43.0	45.0	45.0					11																	36518817		2202	4298	6500	SO:0001630	splice_region_variant	7189				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36518817C>A		CCDS7901.1	11p12	2013-01-09	2012-02-23		ENSG00000175104	ENSG00000175104		"""RING-type (C3HC4) zinc fingers"""	12036	protein-coding gene	gene with protein product		602355	"""TNF receptor-associated factor 6"""			8837778	Standard	NM_004620		Approved	RNF85	uc001mws.2	Q9Y4K3	OTTHUMG00000166391	ENST00000526995.1:c.448-1G>T	11.37:g.36518817C>A						TRAF6_uc001mws.1_Splice_Site_p.D150_splice	p.D150_splice	NM_145803	NP_665802	Q9Y4K3	TRAF6_HUMAN			5	788	-	all_lung(20;0.211)	all_hematologic(20;0.107)						A6NKI7|A8KAB3|D3DR16|Q8NEH5	Splice_Site	SNP	ENST00000526995.1	37	c.448_splice	CCDS7901.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.522885	0.64747	.	.	ENSG00000175104	ENST00000526995;ENST00000348124	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0332	0.71723	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRAF6	36475393	1.000000	0.71417	0.999000	0.59377	0.944000	0.59088	6.853000	0.75435	2.626000	0.88956	0.650000	0.86243	.		0.363	TRAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389530.1	NM_145803	Intron
SERPING1	710	broad.mit.edu	37	11	57379257	57379257	+	Missense_Mutation	SNP	G	G	A	rs139000758		TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr11:57379257G>A	ENST00000278407.4	+	7	1324	c.1097G>A	c.(1096-1098)cGt>cAt	p.R366H	SERPING1_ENST00000403558.1_Missense_Mutation_p.R409H|SERPING1_ENST00000378324.2_Missense_Mutation_p.R314H|SERPING1_ENST00000378323.4_Missense_Mutation_p.R371H|SERPING1_ENST00000340687.6_Intron	NM_000062.2	NP_000053.2	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	366					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						CTGAAACATCGTCTTGAAGAC	0.493																																						uc001nkp.1																			0				central_nervous_system(1)	1	GRCh37	CD087121	SERPING1	D	rs139000758	c.(1096-1098)CGT>CAT		serpin peptidase inhibitor, clade G, member 1		G	HIS/ARG,HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	158.0	146.0	150.0		1097,1097	-9.4	0.0	11	dbSNP_134	150	0,8592		0,0,4296	no	missense,missense	SERPING1	NM_000062.2,NM_001032295.1	29,29	0,1,6496	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	366/501,366/501	57379257	1,12993	2201	4296	6497	SO:0001583	missense	710	Hereditary_Angioedema			blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity	g.chr11:57379257G>A	X54486	CCDS7962.1	11q12.1	2014-09-17	2008-07-31		ENSG00000149131	ENSG00000149131		"""Serine (or cysteine) peptidase inhibitors"""	1228	protein-coding gene	gene with protein product	"""plasma protease C1 inhibitor"", ""angioedema, hereditary"""	606860	"""serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)"""	C1NH		2026152, 24172014	Standard	NM_000062		Approved	C1IN, C1-INH, HAE1, HAE2	uc001nkp.1	P05155	OTTHUMG00000150304	ENST00000278407.4:c.1097G>A	11.37:g.57379257G>A	ENSP00000278407:p.Arg366His					SERPING1_uc001nkq.1_Intron|SERPING1_uc010rju.1_Missense_Mutation_p.R314H|SERPING1_uc010rjv.1_Missense_Mutation_p.R371H|SERPING1_uc001nkr.1_Missense_Mutation_p.R366H|SERPING1_uc009ymi.1_Missense_Mutation_p.R375H|SERPING1_uc009ymj.1_Intron|SERPING1_uc001nks.1_Missense_Mutation_p.R57H	p.R366H	NM_000062	NP_000053	P05155	IC1_HUMAN			7	1288	+			366					A6NMU0|A8KAI9|B2R6L5|B4E1F0|B4E1H2|Q16304|Q547W3|Q59EI5|Q7Z455|Q96FE0|Q9UC49|Q9UCF9	Missense_Mutation	SNP	ENST00000278407.4	37	c.1097G>A	CCDS7962.1	.	.	.	.	.	.	.	.	.	.	G	1.005	-0.689833	0.03328	2.27E-4	0.0	ENSG00000149131	ENST00000278407;ENST00000378323;ENST00000378324;ENST00000403558	D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29	4.69	-9.37	0.00626	Serpin domain (3);	2.097440	0.01653	N	0.024644	T	0.75961	0.3921	N	0.16368	0.405	0.09310	N	1	B;B	0.19706	0.038;0.038	B;B	0.04013	0.001;0.001	T	0.66244	-0.5972	10	0.33141	T	0.24	.	12.9887	0.58606	0.7209:0.1009:0.1782:0.0	.	371;366	B4E1F0;P05155	.;IC1_HUMAN	H	366;371;314;409	ENSP00000278407:R366H;ENSP00000367574:R371H;ENSP00000367575:R314H;ENSP00000384420:R409H	ENSP00000278407:R366H	R	+	2	0	SERPING1	57135833	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	-3.526000	0.00441	-3.182000	0.00222	-0.997000	0.02515	CGT		0.493	SERPING1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317465.1	NM_000062	
SIPA1	6494	broad.mit.edu	37	11	65408796	65408796	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr11:65408796T>G	ENST00000394224.3	+	2	700	c.404T>G	c.(403-405)aTg>aGg	p.M135R	SIPA1_ENST00000527525.1_Missense_Mutation_p.M135R|SIPA1_ENST00000534313.1_Missense_Mutation_p.M135R|SIPA1_ENST00000394227.3_Missense_Mutation_p.M135R	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	135					cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						TCTCAGGGGATGGGGAGCCAC	0.622																																						uc001ofb.2																			0					0						c.(403-405)ATG>AGG		signal-induced proliferation-associated protein							55.0	57.0	56.0					11																	65408796		2201	4297	6498	SO:0001583	missense	6494				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity	g.chr11:65408796T>G	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.404T>G	11.37:g.65408796T>G	ENSP00000377771:p.Met135Arg					SIPA1_uc010rom.1_Missense_Mutation_p.M135R|SIPA1_uc001ofd.2_Missense_Mutation_p.M135R	p.M135R	NM_006747	NP_006738	Q96FS4	SIPA1_HUMAN			2	571	+			135					O14518|O60484|O60618|Q2YD83	Missense_Mutation	SNP	ENST00000394224.3	37	c.404T>G	CCDS8108.1	.	.	.	.	.	.	.	.	.	.	T	0.011	-1.713652	0.00706	.	.	ENSG00000213445	ENST00000534313;ENST00000527525;ENST00000394224;ENST00000394227	T;T;T;T	0.81415	-1.49;-1.48;-1.49;-1.48	5.05	-0.62	0.11567	.	8.216330	0.00664	U	0.000606	T	0.62270	0.2414	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.49986	-0.8880	10	0.21014	T	0.42	1.1538	5.8229	0.18538	0.0:0.5053:0.1294:0.3652	.	135;135	F6RY50;Q96FS4	.;SIPA1_HUMAN	R	135	ENSP00000436269:M135R;ENSP00000433686:M135R;ENSP00000377771:M135R;ENSP00000377774:M135R	ENSP00000377771:M135R	M	+	2	0	SIPA1	65165372	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	-0.235000	0.09016	-0.251000	0.09542	-2.104000	0.00359	ATG		0.622	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	NM_006747	
GAB2	9846	broad.mit.edu	37	11	77991912	77991912	+	Silent	SNP	G	G	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr11:77991912G>A	ENST00000361507.4	-	2	196	c.111C>T	c.(109-111)ggC>ggT	p.G37G	GAB2_ENST00000526030.1_5'UTR|GAB2_ENST00000340149.2_5'UTR	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	37	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			CGCTCATCCGGCCACTCCGCA	0.463																																						uc001ozh.2																			0				ovary(5)|lung(1)	6						c.(109-111)GGC>GGT		GRB2-associated binding protein 2 isoform a							83.0	84.0	83.0					11																	77991912		2200	4292	6492	SO:0001819	synonymous_variant	9846				osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr11:77991912G>A	AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"""Pleckstrin homology (PH) domain containing"""	14458	protein-coding gene	gene with protein product	"""Grb2-associated binder 2"""	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.111C>T	11.37:g.77991912G>A						GAB2_uc001ozg.2_5'UTR	p.G37G	NM_080491	NP_536739	Q9UQC2	GAB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)		2	111	-	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		37			PH.		A2RRM2|A6NEW9|A7MD36|O60317	Silent	SNP	ENST00000361507.4	37	c.111C>T	CCDS8259.1																																																																																				0.463	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391085.1	NM_080491	
EXPH5	23086	broad.mit.edu	37	11	108385420	108385420	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr11:108385420A>T	ENST00000265843.4	-	6	924	c.814T>A	c.(814-816)Tat>Aat	p.Y272N	EXPH5_ENST00000525344.1_Missense_Mutation_p.Y265N|EXPH5_ENST00000428840.1_Missense_Mutation_p.Y196N|EXPH5_ENST00000443411.1_Missense_Mutation_p.Y84N|EXPH5_ENST00000524840.1_5'UTR	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	272					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AGGATGTCATAGATAGACATA	0.383																																						uc001pkk.2																			0				skin(3)|ovary(2)	5						c.(814-816)TAT>AAT		exophilin 5 isoform a							130.0	122.0	124.0					11																	108385420		2201	4298	6499	SO:0001583	missense	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108385420A>T		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.814T>A	11.37:g.108385420A>T	ENSP00000265843:p.Tyr272Asn					EXPH5_uc010rvy.1_Missense_Mutation_p.Y84N|EXPH5_uc010rvz.1_Missense_Mutation_p.Y116N|EXPH5_uc010rwa.1_Missense_Mutation_p.Y196N	p.Y272N	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	925	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	272					Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	c.814T>A	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.962738	0.74016	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000439956;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.08370	3.66;3.58;3.43;3.66;3.44;3.1	5.67	5.67	0.87782	.	0.000000	0.52532	D	0.000072	T	0.28400	0.0702	M	0.71581	2.175	0.39368	D	0.966035	D	0.89917	1.0	D	0.91635	0.999	T	0.02371	-1.1169	10	0.72032	D	0.01	-17.4443	14.1558	0.65417	1.0:0.0:0.0:0.0	.	272	Q8NEV8	EXPH5_HUMAN	N	272;196;84;265;116;196;84	ENSP00000265843:Y272N;ENSP00000391966:Y196N;ENSP00000411390:Y84N;ENSP00000432546:Y265N;ENSP00000432683:Y196N;ENSP00000446434:Y84N	ENSP00000265843:Y272N	Y	-	1	0	EXPH5	107890630	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.170000	0.50816	2.154000	0.67381	0.533000	0.62120	TAT		0.383	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065	
SPIC	121599	broad.mit.edu	37	12	101880330	101880330	+	Silent	SNP	C	C	T			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr12:101880330C>T	ENST00000551346.1	+	6	687	c.528C>T	c.(526-528)taC>taT	p.Y176Y	SPIC_ENST00000299272.5_Silent_p.Y176Y			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	176					blastocyst development (GO:0001824)|cell differentiation (GO:0030154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						TCAGAAATTACGGAAGAAGTG	0.448																																						uc001tid.2																			0				skin(1)	1						c.(526-528)TAC>TAT		Spi-C transcription factor (Spi-1/PU.1 related)							74.0	74.0	74.0					12																	101880330		2203	4300	6503	SO:0001819	synonymous_variant	121599					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:101880330C>T	AF518404	CCDS9082.1	12q23	2005-10-18				ENSG00000166211			29549	protein-coding gene	gene with protein product		612568				12459275	Standard	NM_152323		Approved	MGC40611, SPI-C	uc021rcq.1	Q8N5J4	OTTHUMG00000170273	ENST00000551346.1:c.528C>T	12.37:g.101880330C>T						SPIC_uc009zua.2_Silent_p.Y51Y|SPIC_uc010svp.1_Silent_p.Y175Y	p.Y176Y	NM_152323	NP_689536	Q8N5J4	SPIC_HUMAN			6	687	+			176			ETS.			Silent	SNP	ENST00000551346.1	37	c.528C>T	CCDS9082.1																																																																																				0.448	SPIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408260.1	NM_152323	
OR4Q3	441669	broad.mit.edu	37	14	20216091	20216091	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr14:20216091T>C	ENST00000331723.1	+	1	505	c.505T>C	c.(505-507)Ttc>Ctc	p.F169L		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	169						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCAGCTGCCTTTCTGTGGGCC	0.512																																						uc010tkt.1																			0				breast(3)	3						c.(505-507)TTC>CTC		olfactory receptor, family 4, subfamily Q,							135.0	125.0	128.0					14																	20216091		2203	4300	6503	SO:0001583	missense	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20216091T>C	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.505T>C	14.37:g.20216091T>C	ENSP00000330049:p.Phe169Leu						p.F169L	NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	505	+	all_cancers(95;0.00108)		169			Extracellular (Potential).		Q6IEX4	Missense_Mutation	SNP	ENST00000331723.1	37	c.505T>C	CCDS32020.1	.	.	.	.	.	.	.	.	.	.	.	17.23	3.337869	0.60963	.	.	ENSG00000182652	ENST00000331723	T	0.00039	8.85	4.09	4.09	0.47781	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42053	U	0.000766	T	0.00440	0.0014	M	0.79805	2.47	0.29411	N	0.861262	D	0.89917	1.0	D	0.97110	1.0	T	0.25152	-1.0140	10	0.87932	D	0	.	11.0617	0.47950	0.0:0.0:0.0:1.0	.	169	Q8NH05	OR4Q3_HUMAN	L	169	ENSP00000330049:F169L	ENSP00000330049:F169L	F	+	1	0	OR4Q3	19285931	0.932000	0.31603	1.000000	0.80357	0.840000	0.47671	2.437000	0.44828	1.709000	0.51313	0.333000	0.21579	TTC		0.512	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2		
L3HYPDH	112849	broad.mit.edu	37	14	59942820	59942820	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr14:59942820G>A	ENST00000247194.4	-	3	904	c.791C>T	c.(790-792)gCa>gTa	p.A264V	L3HYPDH_ENST00000487285.1_Missense_Mutation_p.A93V|L3HYPDH_ENST00000543619.1_5'Flank	NM_144581.1	NP_653182.1	Q96EM0	T3HPD_HUMAN	L-3-hydroxyproline dehydratase (trans-)	264					metabolic process (GO:0008152)		hydro-lyase activity (GO:0016836)|trans-L-3-hydroxyproline dehydratase activity (GO:0050346)									L-Proline(DB00172)	CTGTTCATCTGCAAAAACACA	0.353																																						uc001xee.1																			0				ovary(1)	1						c.(790-792)GCA>GTA		proline racemase-like	L-Proline(DB00172)						140.0	148.0	145.0					14																	59942820		2203	4300	6503	SO:0001583	missense	112849						proline racemase activity	g.chr14:59942820G>A	AI762327	CCDS9739.1	14q23.1	2012-08-15	2012-08-15	2012-08-15	ENSG00000126790	ENSG00000126790	4.2.1.77		20488	protein-coding gene	gene with protein product	"""trans-L-3-hydroxyproline dehydratase"""	614811	"""chromosome 14 open reading frame 149"""	C14orf149		22528483	Standard	NM_144581		Approved	FLJ25436	uc001xee.1	Q96EM0	OTTHUMG00000028941	ENST00000247194.4:c.791C>T	14.37:g.59942820G>A	ENSP00000247194:p.Ala264Val						p.A264V	NM_144581	NP_653182	Q96EM0	PRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.14)	3	830	-			264					Q96LJ5	Missense_Mutation	SNP	ENST00000247194.4	37	c.791C>T	CCDS9739.1	.	.	.	.	.	.	.	.	.	.	G	31	5.074960	0.94000	.	.	ENSG00000126790	ENST00000247194;ENST00000487285;ENST00000481608	T;T;T	0.18657	2.2;2.2;2.2	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.59074	0.2167	M	0.93062	3.375	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.68447	-0.5406	10	0.62326	D	0.03	.	19.5117	0.95144	0.0:0.0:1.0:0.0	.	264	Q96EM0	PRCM_HUMAN	V	264;93;93	ENSP00000247194:A264V;ENSP00000431608:A93V;ENSP00000423874:A93V	ENSP00000247194:A264V	A	-	2	0	C14orf149	59012573	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.999000	0.76283	2.604000	0.88044	0.591000	0.81541	GCA		0.353	L3HYPDH-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072254.5	NM_144581	
GPR68	8111	broad.mit.edu	37	14	91700713	91700713	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr14:91700713G>A	ENST00000531499.2	-	2	1021	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W	GPR68_ENST00000238699.3_Missense_Mutation_p.R238W|GPR68_ENST00000535815.1_Missense_Mutation_p.R228W|GPR68_ENST00000529300.1_5'Flank			Q15743	OGR1_HUMAN	G protein-coupled receptor 68	228					cellular response to pH (GO:0071467)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of osteoclast development (GO:2001206)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		AGCACCAGCCGCTGGATCTGG	0.677																																						uc001xzg.2																			0				kidney(1)	1						c.(682-684)CGG>TGG		G protein-coupled receptor 68							35.0	20.0	25.0					14																	91700713		2198	4283	6481	SO:0001583	missense	8111				inflammatory response	integral to plasma membrane	G-protein coupled receptor activity	g.chr14:91700713G>A	U48405	CCDS9894.1, CCDS9894.2	14q31	2012-08-21				ENSG00000119714		"""GPCR / Class A : Orphans"""	4519	protein-coding gene	gene with protein product		601404				8661159	Standard	NM_001177676		Approved	OGR1	uc001xzg.3	Q15743		ENST00000531499.2:c.682C>T	14.37:g.91700713G>A	ENSP00000434045:p.Arg228Trp					GPR68_uc001xzh.2_Missense_Mutation_p.R238W	p.R228W	NM_003485	NP_003476	Q15743	OGR1_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	2	1023	-		all_cancers(154;0.0555)	228			Cytoplasmic (Potential).		Q13334|Q4VBB4|Q6IX34	Missense_Mutation	SNP	ENST00000531499.2	37	c.682C>T	CCDS9894.2	.	.	.	.	.	.	.	.	.	.	G	17.92	3.505783	0.64410	.	.	ENSG00000119714	ENST00000531499;ENST00000238699;ENST00000535815;ENST00000529102	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.26	3.19	0.36642	GPCR, rhodopsin-like superfamily (1);	0.235946	0.37219	N	0.002198	T	0.64832	0.2634	M	0.77616	2.38	0.33126	D	0.542435	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.78398	-0.2219	10	0.87932	D	0	.	15.7751	0.78207	0.0:0.0:0.6736:0.3264	.	228;228	Q6NWR5;Q15743	.;OGR1_HUMAN	W	228;238;228;228	ENSP00000434045:R228W;ENSP00000238699:R238W;ENSP00000440797:R228W;ENSP00000432740:R228W	ENSP00000238699:R238W	R	-	1	2	GPR68	90770466	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.368000	0.34216	1.172000	0.42781	0.555000	0.69702	CGG		0.677	GPR68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395245.2		
RIN3	79890	broad.mit.edu	37	14	93118186	93118186	+	Silent	SNP	C	C	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr14:93118186C>A	ENST00000216487.7	+	6	951	c.792C>A	c.(790-792)ccC>ccA	p.P264P	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	264	Pro-rich.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CTTTGCCGCCCACCTCTGATG	0.677																																						uc001yap.2																			0				lung(2)|ovary(1)	3						c.(790-792)CCC>CCA		Ras and Rab interactor 3							86.0	84.0	84.0					14																	93118186		2203	4300	6503	SO:0001819	synonymous_variant	79890				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	g.chr14:93118186C>A	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.792C>A	14.37:g.93118186C>A						RIN3_uc010auk.2_5'UTR|RIN3_uc001yaq.2_Silent_p.P189P|RIN3_uc001yar.1_5'UTR|RIN3_uc001yas.1_5'UTR	p.P264P	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN			6	944	+		all_cancers(154;0.0701)	264			Pro-rich.		Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Silent	SNP	ENST00000216487.7	37	c.792C>A	CCDS32144.1																																																																																				0.677	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1		
SNX1	6642	broad.mit.edu	37	15	64415724	64415724	+	Silent	SNP	A	A	G			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr15:64415724A>G	ENST00000559844.1	+	5	503	c.489A>G	c.(487-489)gtA>gtG	p.V163V	SNX1_ENST00000560829.1_5'UTR|SNX1_ENST00000353874.4_Silent_p.V163V|SNX1_ENST00000561026.1_Silent_p.V98V|SNX1_ENST00000261889.5_Silent_p.V163V			Q13596	SNX1_HUMAN	sorting nexin 1	163	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						ATGCATATGTAGCCTACAAAG	0.418																																						uc002amv.2																			0					0						c.(487-489)GTA>GTG		sorting nexin 1 isoform a							225.0	181.0	196.0					15																	64415724		2203	4300	6503	SO:0001819	synonymous_variant	6642				cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	early endosome membrane|Golgi apparatus	phosphatidylinositol binding|protein binding|protein transporter activity	g.chr15:64415724A>G	BC000357	CCDS32266.1, CCDS32268.1, CCDS58371.1	15q22.31	2011-05-03			ENSG00000028528	ENSG00000028528		"""Sorting nexins"""	11172	protein-coding gene	gene with protein product		601272				8638121	Standard	NM_003099		Approved	SNX1A, MGC8664, HsT17379, Vps5	uc010uio.2	Q13596		ENST00000559844.1:c.489A>G	15.37:g.64415724A>G						SNX1_uc010bgv.2_Intron|SNX1_uc010uio.1_Silent_p.V163V|SNX1_uc002amw.2_Silent_p.V163V|SNX1_uc002amx.2_Silent_p.V98V|SNX1_uc002amy.2_Silent_p.V92V|SNX1_uc010bgw.2_Silent_p.V65V	p.V163V	NM_003099	NP_003090	Q13596	SNX1_HUMAN			5	525	+			163			PX.		A6NM19|A8K6T7|H0Y2M5|O60750|O60751|Q6ZRJ8	Silent	SNP	ENST00000559844.1	37	c.489A>G	CCDS32266.1																																																																																				0.418	SNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418559.1	NM_003099	
ANPEP	290	broad.mit.edu	37	15	90340926	90340926	+	Silent	SNP	C	C	T			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr15:90340926C>T	ENST00000300060.6	-	15	2350	c.2037G>A	c.(2035-2037)gcG>gcA	p.A679A	ANPEP_ENST00000558177.1_5'UTR	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	679	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	TGTTGTTCAGCGCCAGAGTGA	0.587																																					NSCLC(30;827 977 2459 19669 26125)	uc002bop.3																			0				ovary(3)|skin(1)	4						c.(2035-2037)GCG>GCA		membrane alanine aminopeptidase precursor	Ezetimibe(DB00973)						129.0	124.0	126.0					15																	90340926		2200	4299	6499	SO:0001819	synonymous_variant	290				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	g.chr15:90340926C>T	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.2037G>A	15.37:g.90340926C>T							p.A679A	NM_001150	NP_001141	P15144	AMPN_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		15	2329	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		679			Extracellular.|Metalloprotease.		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Silent	SNP	ENST00000300060.6	37	c.2037G>A	CCDS10356.1																																																																																				0.587	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1		
ARRDC4	91947	broad.mit.edu	37	15	98512581	98512581	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr15:98512581G>A	ENST00000268042.6	+	5	1018	c.854G>A	c.(853-855)tGc>tAc	p.C285Y	ARRDC4_ENST00000538249.1_Missense_Mutation_p.C198Y	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	285					positive regulation of ubiquitin-protein transferase activity (GO:0051443)	endosome (GO:0005768)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			CTGGATTGCTGCATTATCAGA	0.423																																						uc010bom.2																			0					0						c.(853-855)TGC>TAC		arrestin domain containing 4							109.0	94.0	99.0					15																	98512581		2197	4298	6495	SO:0001583	missense	91947				signal transduction			g.chr15:98512581G>A	BC028704	CCDS10377.1	15q26.2	2005-08-16			ENSG00000140450	ENSG00000140450			28087	protein-coding gene	gene with protein product						12477932	Standard	NM_183376		Approved	FLJ36045	uc010bom.3	Q8NCT1	OTTHUMG00000149849	ENST00000268042.6:c.854G>A	15.37:g.98512581G>A	ENSP00000268042:p.Cys285Tyr					ARRDC4_uc002bui.3_Missense_Mutation_p.C198Y	p.C285Y	NM_183376	NP_899232	Q8NCT1	ARRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0417)		5	1013	+	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		285					Q6NSI9	Missense_Mutation	SNP	ENST00000268042.6	37	c.854G>A	CCDS10377.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.092632	0.56075	.	.	ENSG00000140450	ENST00000538249;ENST00000268042	T;T	0.16743	2.32;2.32	5.11	4.13	0.48395	Immunoglobulin E-set (1);Arrestin-like, C-terminal (1);	0.216476	0.42548	D	0.000698	T	0.18964	0.0455	N	0.22421	0.69	0.42244	D	0.991949	D;D	0.62365	0.991;0.989	P;P	0.56163	0.793;0.558	T	0.00621	-1.1640	10	0.49607	T	0.09	0.9026	8.9783	0.35950	0.0787:0.1499:0.7714:0.0	.	285;198	Q8NCT1;F5H824	ARRD4_HUMAN;.	Y	198;285	ENSP00000443774:C198Y;ENSP00000268042:C285Y	ENSP00000268042:C285Y	C	+	2	0	ARRDC4	96313585	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.150000	0.50662	2.539000	0.85634	0.591000	0.81541	TGC		0.423	ARRDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313535.1	NM_183376	
MPG	4350	broad.mit.edu	37	16	133088	133088	+	Missense_Mutation	SNP	G	G	A	rs201536549		TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr16:133088G>A	ENST00000219431.4	+	4	584	c.353G>A	c.(352-354)cGa>cAa	p.R118Q	NPRL3_ENST00000405960.3_5'Flank|MPG_ENST00000397817.1_Missense_Mutation_p.R101Q	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase	118					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA repair (GO:0006281)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)	alkylbase DNA N-glycosylase activity (GO:0003905)|damaged DNA binding (GO:0003684)|DNA-3-methyladenine glycosylase activity (GO:0008725)|DNA-3-methylguanine glycosylase activity (GO:0052822)|DNA-7-methyladenine glycosylase activity (GO:0052821)|DNA-7-methylguanine glycosylase activity (GO:0043916)	p.R118Q(1)		endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				ACAGAACTCCGAGGCCGCATC	0.637								Base excision repair (BER), DNA glycosylases					G|||	1	0.000199681	0.0	0.0	5008	,	,		17818	0.001		0.0	False		,,,				2504	0.0					uc002cfn.2																			1	Substitution - Missense(1)		endometrium(1)	ovary(1)|skin(1)	2						c.(352-354)CGA>CAA	BER_DNA_glycosylases	N-methylpurine-DNA glycosylase isoform a		G	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	110.0	115.0	113.0		338,302,353	3.9	1.0	16		113	2,8598	1.2+/-3.3	0,2,4298	yes	missense,missense,missense	MPG	NM_001015052.1,NM_001015054.1,NM_002434.2	43,43,43	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	113/294,101/282,118/299	133088	2,13004	2203	4300	6503	SO:0001583	missense	4350				depurination|DNA dealkylation involved in DNA repair	nucleoplasm	alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding	g.chr16:133088G>A		CCDS32345.1, CCDS32346.1, CCDS42087.1	16p13.3	2008-07-29			ENSG00000103152	ENSG00000103152	3.2.2.21		7211	protein-coding gene	gene with protein product	"""alkyladenine DNA glycosylase"""	156565				1874728	Standard	NM_002434		Approved	MDG	uc002cfo.4	P29372	OTTHUMG00000047887	ENST00000219431.4:c.353G>A	16.37:g.133088G>A	ENSP00000219431:p.Arg118Gln					MPG_uc002cfm.2_Missense_Mutation_p.R101Q|MPG_uc010bqp.2_Missense_Mutation_p.R101Q|MPG_uc002cfo.2_Missense_Mutation_p.R113Q	p.R118Q	NM_002434	NP_002425	P29372	3MG_HUMAN			4	671	+		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)	118					G5E9E2|Q13770|Q15275|Q15961|Q5J9I4|Q96BZ6|Q96S33|Q9NNX5	Missense_Mutation	SNP	ENST00000219431.4	37	c.353G>A	CCDS32346.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	17.52	3.410583	0.62399	0.0	2.33E-4	ENSG00000103152	ENST00000436333;ENST00000397817;ENST00000356432;ENST00000219431	T;T;T;T	0.17691	2.26;2.26;2.26;2.26	4.88	3.93	0.45458	Formyl transferase, C-terminal-like (1);	0.060713	0.64402	D	0.000003	T	0.39036	0.1063	M	0.75085	2.285	0.46437	D	0.999045	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.76071	0.987;0.987;0.987	T	0.15549	-1.0433	10	0.36615	T	0.2	-7.6964	12.313	0.54940	0.0817:0.0:0.9183:0.0	.	101;113;118	A2IDA3;Q5J9I4;P29372	.;.;3MG_HUMAN	Q	101;101;113;118	ENSP00000388097:R101Q;ENSP00000380918:R101Q;ENSP00000348809:R113Q;ENSP00000219431:R118Q	ENSP00000219431:R118Q	R	+	2	0	MPG	73088	1.000000	0.71417	0.969000	0.41365	0.530000	0.34684	7.414000	0.80117	1.283000	0.44513	0.462000	0.41574	CGA		0.637	MPG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109121.4		
CIITA	4261	broad.mit.edu	37	16	11002910	11002910	+	Silent	SNP	G	G	A	rs148091568	byFrequency	TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr16:11002910G>A	ENST00000324288.8	+	12	2815	c.2682G>A	c.(2680-2682)gcG>gcA	p.A894A	CIITA_ENST00000381835.5_Silent_p.A310A|CIITA_ENST00000537380.1_Intron	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	894					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)	p.A894A(1)		central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						ACACGGTGGCGCTGTGGGAGT	0.602			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								G|||	5	0.000998403	0.0008	0.0014	5008	,	,		19642	0.003		0.0	False		,,,				2504	0.0					uc002dai.3				Dom	yes		16	16p13	4261	T	"""class II, major histocompatibility complex, transactivator"""			L	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75		PMBL|Hodgkin Lymphona|		1	Substitution - coding silent(1)		endometrium(1)	central_nervous_system(1)	1						c.(2680-2682)GCG>GCA		class II transactivator		G		6,4388	11.4+/-27.6	0,6,2191	60.0	45.0	50.0		2682	3.9	0.8	16	dbSNP_134	50	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	CIITA	NM_000246.3		0,8,6489	AA,AG,GG		0.0233,0.1365,0.0616		894/1131	11002910	8,12986	2197	4300	6497	SO:0001819	synonymous_variant	4261				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr16:11002910G>A	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.2682G>A	16.37:g.11002910G>A						CIITA_uc002daj.3_Silent_p.A895A|CIITA_uc002dak.3_Silent_p.A310A|CIITA_uc010bup.1_Intron	p.A894A	NM_000246	NP_000237	P33076	C2TA_HUMAN			12	2815	+			894					A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Silent	SNP	ENST00000324288.8	37	c.2682G>A	CCDS10544.1																																																																																				0.602	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246	
ZNF688	146542	broad.mit.edu	37	16	30581364	30581364	+	Missense_Mutation	SNP	G	G	A	rs201261814		TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr16:30581364G>A	ENST00000223459.6	-	3	1808	c.704C>T	c.(703-705)tCc>tTc	p.S235F	ZNF688_ENST00000395219.1_Missense_Mutation_p.S221F|AC002310.7_ENST00000486926.1_RNA|AC002310.7_ENST00000492040.1_RNA	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN	zinc finger protein 688	235					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(3)|large_intestine(2)|lung(2)|ovary(1)	8						CCCGGAGCAGGAGCGGTGGAT	0.716													G|||	1	0.000199681	0.0008	0.0	5008	,	,		13089	0.0		0.0	False		,,,				2504	0.0					uc002dyt.2																			0					0						c.(703-705)TCC>TTC		zinc finger protein 688 isoform a							11.0	14.0	13.0					16																	30581364		2177	4263	6440	SO:0001583	missense	146542				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30581364G>A	AK122680	CCDS10684.1	16p11.2	2013-01-08			ENSG00000229809	ENSG00000229809		"""Zinc fingers, C2H2-type"", ""-"""	30489	protein-coding gene	gene with protein product						10493829	Standard	XM_005255139		Approved		uc002dys.2	P0C7X2	OTTHUMG00000132408	ENST00000223459.6:c.704C>T	16.37:g.30581364G>A	ENSP00000223459:p.Ser235Phe					ZNF688_uc002dys.2_Missense_Mutation_p.S221F|uc002dyu.2_5'Flank	p.S235F	NM_145271	NP_660314	P0C7X2	ZN688_HUMAN			3	1482	-			235					A8MV39|B3KV51|O75701|Q8IW91|Q8WV14|Q96MN0	Missense_Mutation	SNP	ENST00000223459.6	37	c.704C>T	CCDS10684.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	20.4	3.989484	0.74589	.	.	ENSG00000229809	ENST00000395219;ENST00000223459	T;T	0.04317	3.65;3.89	4.42	4.42	0.53409	.	.	.	.	.	T	0.09247	0.0228	N	0.14661	0.345	0.32855	D	0.507245	D;D	0.65815	0.995;0.995	D;D	0.66602	0.945;0.945	T	0.13980	-1.0489	9	0.87932	D	0	.	12.694	0.56992	0.0:0.0:1.0:0.0	.	235;221	P0C7X2;A8MV39	ZN688_HUMAN;.	F	221;235	ENSP00000378645:S221F;ENSP00000223459:S235F	ENSP00000223459:S235F	S	-	2	0	ZNF688	30488865	.	.	1.000000	0.80357	0.988000	0.76386	.	.	2.439000	0.82584	0.467000	0.42956	TCC		0.716	ZNF688-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255544.2	NM_145271	
CYLD	1540	broad.mit.edu	37	16	50788289	50788289	+	Silent	SNP	G	G	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr16:50788289G>A	ENST00000427738.3	+	4	1072	c.867G>A	c.(865-867)gcG>gcA	p.A289A	CYLD_ENST00000398568.2_Silent_p.A289A|CYLD_ENST00000566206.1_Silent_p.A289A|CYLD_ENST00000569418.1_Silent_p.A289A|CYLD_ENST00000540145.1_Silent_p.A289A|CYLD_ENST00000311559.9_Silent_p.A289A|CYLD_ENST00000564326.1_Silent_p.A289A|CYLD_ENST00000568704.2_Silent_p.A289A			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	289	Interaction with TRIP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.A289A(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				GTAGTTTTGCGTGTGTTGAAA	0.303			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																													uc002egp.1			yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	Mis|N|F|S	familial cylindromatosis gene			E		cylindroma	cylindroma		1	Substitution - coding silent(1)	p.A289A(1)	central_nervous_system(1)	skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28						c.(865-867)GCG>GCA		ubiquitin carboxyl-terminal hydrolase CYLD							153.0	143.0	146.0					16																	50788289		1846	4092	5938	SO:0001819	synonymous_variant	1540	Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr16:50788289G>A	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.867G>A	16.37:g.50788289G>A						CYLD_uc002egn.1_Silent_p.A289A|CYLD_uc002ego.2_Silent_p.A289A|CYLD_uc010cbs.1_Silent_p.A289A|CYLD_uc002egq.1_Silent_p.A289A|CYLD_uc002egr.1_Silent_p.A289A|CYLD_uc002egs.1_Silent_p.A289A	p.A289A	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN			6	1282	+		all_cancers(37;0.0156)	289			Interaction with TRIP.		O94934|Q7L3N6|Q96EH0|Q9NZX9	Silent	SNP	ENST00000427738.3	37	c.867G>A	CCDS45482.1																																																																																				0.303	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2		
ZNRF1	84937	broad.mit.edu	37	16	75140419	75140419	+	Frame_Shift_Del	DEL	G	G	-	rs141362193		TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr16:75140419delG	ENST00000335325.4	+	4	1308	c.666delG	c.(664-666)ccgfs	p.P222fs	ZNRF1_ENST00000567962.1_Frame_Shift_Del_p.P222fs|ZNRF1_ENST00000564320.1_3'UTR|ZNRF1_ENST00000320619.6_Frame_Shift_Del_p.P273fs|RP11-252E2.1_ENST00000499110.1_RNA	NM_032268.4	NP_115644.1	Q8ND25	ZNRF1_HUMAN	zinc and ring finger 1, E3 ubiquitin protein ligase	222					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|lysosome (GO:0005764)|membrane (GO:0016020)|synapse (GO:0045202)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)	1						GATCTTGTCCGGAACACCCTG	0.612																																						uc002fdk.2																			0					0						c.(664-666)CCGfs		zinc and ring finger protein 1							103.0	91.0	95.0					16																	75140419		2198	4300	6498	SO:0001589	frameshift_variant	84937					cell junction|endosome|lysosome|synaptic vesicle membrane	ligase activity|protein binding|zinc ion binding	g.chr16:75140419delG	AF378524	CCDS10912.1	16q22.3	2013-01-09	2012-02-23		ENSG00000186187	ENSG00000186187		"""RING-type (C3HC4) zinc fingers"""	18452	protein-coding gene	gene with protein product		612060	"""zinc and ring finger 1"""				Standard	NM_032268		Approved	nin283, FLJ14846, DKFZp434E229	uc002fdl.1	Q8ND25	OTTHUMG00000137606	ENST00000335325.4:c.666delG	16.37:g.75140419delG	ENSP00000335091:p.Pro222fs					ZNRF1_uc002fdl.1_Frame_Shift_Del_p.P222fs|ZNRF1_uc010cgr.1_Frame_Shift_Del_p.P273fs	p.P222fs	NM_032268	NP_115644	Q8ND25	ZNRF1_HUMAN			4	1321	+			222			RING-type; atypical.		D3DUJ9|Q9H083	Frame_Shift_Del	DEL	ENST00000335325.4	37	c.666delG	CCDS10912.1																																																																																				0.612	ZNRF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269020.2		
DNAAF1	123872	broad.mit.edu	37	16	84203617	84203617	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr16:84203617A>T	ENST00000378553.5	+	8	1307	c.1183A>T	c.(1183-1185)Agt>Tgt	p.S395C	DNAAF1_ENST00000334315.5_Missense_Mutation_p.S395C|DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	395	Pro-rich.				axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						GGAAAAGCCAAGTGGAGAGGA	0.577																																						uc002fhl.3																			0					0						c.(1183-1185)AGT>TGT		leucine rich repeat containing 50							59.0	65.0	63.0					16																	84203617		2200	4299	6499	SO:0001583	missense	123872	Kartagener_syndrome			axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	g.chr16:84203617A>T	BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"""outer row dynein assembly 7 homolog (Chlamydomonas)"""	613190	"""leucine rich repeat containing 50"""	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.1183A>T	16.37:g.84203617A>T	ENSP00000367815:p.Ser395Cys					LRRC50_uc010vnw.1_Missense_Mutation_p.S159C	p.S395C	NM_178452	NP_848547	Q8NEP3	DAAF1_HUMAN			8	1364	+			395			Pro-rich.		B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Missense_Mutation	SNP	ENST00000378553.5	37	c.1183A>T	CCDS10943.2	.	.	.	.	.	.	.	.	.	.	A	15.20	2.762625	0.49574	.	.	ENSG00000154099	ENST00000334315;ENST00000378553	T;T	0.35048	1.33;1.77	5.18	-10.4	0.00318	.	2.892400	0.01494	N	0.017227	T	0.34629	0.0904	L	0.36672	1.1	0.09310	N	1	D;D	0.58970	0.984;0.973	P;P	0.50192	0.634;0.513	T	0.60115	-0.7326	10	0.56958	D	0.05	0.1259	11.7741	0.51975	0.1603:0.3745:0.4652:0.0	.	159;395	Q8NEP3-2;Q8NEP3	.;DAAF1_HUMAN	C	395	ENSP00000334593:S395C;ENSP00000367815:S395C	ENSP00000334593:S395C	S	+	1	0	DNAAF1	82761118	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.391000	0.01057	-2.735000	0.00382	-0.226000	0.12346	AGT		0.577	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3	NM_178452	
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575|rs397516437		TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr17:7577548C>T	ENST00000269305.4	-	7	922	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000420246.2_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2	G245S(SKLMS1_SOFT_TISSUE)|G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKMEL2_SKIN)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		420	Substitution - Missense(390)|Deletion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)|Insertion - Frameshift(1)	p.G245S(274)|p.G245D(93)|p.G245V(50)|p.G245C(47)|p.G245R(10)|p.G245A(8)|p.0?(7)|p.G245G(3)|p.G245fs*2(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.G245fs*22(1)|p.M243fs*18(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)	large_intestine(119)|lung(51)|breast(38)|ovary(29)|central_nervous_system(27)|upper_aerodigestive_tract(25)|stomach(25)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(22)|urinary_tract(14)|skin(9)|liver(7)|prostate(7)|biliary_tract(5)|bone(5)|pancreas(4)|soft_tissue(3)|vulva(2)|endometrium(2)|kidney(1)|cervix(1)|salivary_gland(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM010463|CM900210|CM920674	TP53	M	rs28934575	c.(733-735)GGC>AGC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a		C	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	149.0	112.0	125.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	733,733,733,733,337,337,337	4.6	1.0	17	dbSNP_125	125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	56,56,56,56,56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	245/394,245/394,245/347,245/342,113/262,113/210,113/215	7577548	1,13005	2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577548C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.733G>A	17.37:g.7577548C>T	ENSP00000269305:p.Gly245Ser	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.G245S|TP53_uc002gih.2_Missense_Mutation_p.G245S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G113S|TP53_uc010cng.1_Missense_Mutation_p.G113S|TP53_uc002gii.1_Missense_Mutation_p.G113S|TP53_uc010cnh.1_Missense_Mutation_p.G245S|TP53_uc010cni.1_Missense_Mutation_p.G245S|TP53_uc002gij.2_Missense_Mutation_p.G245S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.G152S|TP53_uc002gio.2_Missense_Mutation_p.G113S	p.G245S	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	927	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	245		G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> A (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.733G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259904	0.95368	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99878	0.9942	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.976;0.992;0.999;0.999;1.0	D	0.96039	0.9023	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	rs28934575	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245S;ENSP00000352610:G245S;ENSP00000269305:G245S;ENSP00000398846:G245S;ENSP00000391127:G245S;ENSP00000391478:G245S;ENSP00000425104:G113S;ENSP00000423862:G152S	ENSP00000269305:G245S	G	-	1	0	TP53	7518273	1.000000	0.71417	0.965000	0.40720	0.974000	0.67602	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
MYH8	4626	broad.mit.edu	37	17	10300223	10300223	+	Missense_Mutation	SNP	G	G	A	rs150344258		TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr17:10300223G>A	ENST00000403437.2	-	31	4353	c.4259C>T	c.(4258-4260)aCg>aTg	p.T1420M	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1420					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCGCTGCTTCGTCTTCTCAAG	0.493									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2																			0				skin(6)|ovary(3)|breast(2)	11						c.(4258-4260)ACG>ATG		myosin, heavy chain 8, skeletal muscle,		G	MET/THR	2,4404	4.2+/-10.8	0,2,2201	98.0	91.0	93.0		4259	5.2	1.0	17	dbSNP_134	93	0,8600		0,0,4300	no	missense	MYH8	NM_002472.2	81	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	1420/1938	10300223	2,13004	2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10300223G>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.4259C>T	17.37:g.10300223G>A	ENSP00000384330:p.Thr1420Met					uc002gml.1_Intron	p.T1420M	NM_002472	NP_002463	P13535	MYH8_HUMAN			31	4354	-			1420			Potential.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.4259C>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.724780	0.68959	4.54E-4	0.0	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.79454	-1.27	5.15	5.15	0.70609	Myosin tail (1);	0.000000	0.42964	U	0.000639	D	0.91043	0.7182	M	0.92268	3.29	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	D	0.92903	0.6341	10	0.87932	D	0	.	18.8185	0.92086	0.0:0.0:1.0:0.0	.	1420	P13535	MYH8_HUMAN	M	1420	ENSP00000384330:T1420M	ENSP00000252173:T1420M	T	-	2	0	MYH8	10240948	1.000000	0.71417	0.956000	0.39512	0.373000	0.29922	9.466000	0.97665	2.673000	0.90976	0.650000	0.86243	ACG		0.493	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472	
PIRT	644139	broad.mit.edu	37	17	10728581	10728581	+	Missense_Mutation	SNP	G	G	A	rs150727776	byFrequency	TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr17:10728581G>A	ENST00000580256.2	-	2	1020	c.382C>T	c.(382-384)Cgc>Tgc	p.R128C		NM_001101387.1	NP_001094857.1	P0C851	PIRT_HUMAN	phosphoinositide-interacting regulator of transient receptor potential channels	128						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8						TTGAGGCTGCGTAAGAAATTC	0.532													G|||	15	0.00299521	0.0113	0.0	5008	,	,		19935	0.0		0.0	False		,,,				2504	0.0					uc010col.2																			0				ovary(1)	1						c.(382-384)CGC>TGC		phosphoinositide-interacting regulator of		G	CYS/ARG	45,4171		1,43,2064	71.0	74.0	73.0		382	5.2	1.0	17	dbSNP_134	73	0,8452		0,0,4226	yes	missense	PIRT	NM_001101387.1	180	1,43,6290	AA,AG,GG		0.0,1.0674,0.3552	possibly-damaging	128/138	10728581	45,12623	2108	4226	6334	SO:0001583	missense	644139					integral to membrane		g.chr17:10728581G>A	AK021549	CCDS45614.1	17p12	2010-06-04			ENSG00000233670	ENSG00000233670			37239	protein-coding gene	gene with protein product	"""phosphoinositide-interacting regulator of TRPV1"""	612068				18455988	Standard	NM_001101387		Approved		uc010col.3	P0C851		ENST00000580256.2:c.382C>T	17.37:g.10728581G>A	ENSP00000462046:p.Arg128Cys						p.R128C	NM_001101387	NP_001094857	P0C851	PIRT_HUMAN			2	677	-			128					B7Z648	Missense_Mutation	SNP	ENST00000580256.2	37	c.382C>T	CCDS45614.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	G	9.434	1.086287	0.20390	0.010674	0.0	ENSG00000233670	ENST00000441732	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	T	0.15089	0.0364	N	0.08118	0	0.33122	D	0.541957	B	0.32829	0.386	B	0.16722	0.016	T	0.20638	-1.0269	8	0.87932	D	0	-25.5246	9.688	0.40111	0.0915:0.0:0.9085:0.0	.	128	P0C851	PIRT_HUMAN	C	128	.	ENSP00000408936:R128C	R	-	1	0	PIRT	10669306	1.000000	0.71417	0.990000	0.47175	0.053000	0.15095	3.322000	0.52007	2.723000	0.93209	0.655000	0.94253	CGC		0.532	PIRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441078.2	NM_001101387	
NF1	4763	broad.mit.edu	37	17	29548907	29548907	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr17:29548907T>C	ENST00000358273.4	+	15	2064	c.1681T>C	c.(1681-1683)Tgg>Cgg	p.W561R	NF1_ENST00000431387.4_Missense_Mutation_p.W561R|NF1_ENST00000356175.3_Missense_Mutation_p.W561R	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	561					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.?(4)	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)		CATTGATTTGTGGAATCCTGA	0.294			"""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.2			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		12	Whole gene deletion(8)|Unknown(4)	p.?(2)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330						c.(1681-1683)TGG>CGG		neurofibromin isoform 1							69.0	66.0	67.0					17																	29548907		2202	4297	6499	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.chr17:29548907T>C		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.1681T>C	17.37:g.29548907T>C	ENSP00000351015:p.Trp561Arg	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgf.1_Missense_Mutation_p.W561R|NF1_uc002hgh.2_Missense_Mutation_p.W561R|NF1_uc010csn.1_Missense_Mutation_p.W421R	p.W561R	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)	15	2014	+		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)	561					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.1681T>C	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.450442	0.84101	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175;ENST00000456735	T;T;T;T	0.35048	1.59;1.53;1.69;1.33	5.78	5.78	0.91487	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.61337	0.2339	M	0.75615	2.305	0.80722	D	1	D;D;D;D	0.89917	1.0;0.994;1.0;1.0	D;D;D;D	0.91635	0.999;0.991;0.997;0.998	T	0.63440	-0.6637	10	0.52906	T	0.07	.	16.1021	0.81178	0.0:0.0:0.0:1.0	.	561;561;561;561	E1P657;P21359-2;P21359;Q14931	.;.;NF1_HUMAN;.	R	561;561;561;227	ENSP00000412921:W561R;ENSP00000351015:W561R;ENSP00000348498:W561R;ENSP00000389907:W227R	ENSP00000348498:W561R	W	+	1	0	NF1	26573033	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.665000	0.83852	2.210000	0.71456	0.533000	0.62120	TGG		0.294	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
NF1	4763	broad.mit.edu	37	17	29586056	29586056	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr17:29586056C>A	ENST00000358273.4	+	33	4722	c.4339C>A	c.(4339-4341)Cag>Aag	p.Q1447K	NF1_ENST00000356175.3_Missense_Mutation_p.Q1426K	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1447	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				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.?(5)|p.Q1447K(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)		GTAGATACTTCAGAGTATTGC	0.308			"""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.2			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		14	Whole gene deletion(8)|Unknown(5)|Substitution - Missense(1)	p.?(3)|p.Q1447K(1)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(3)|lung(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330						c.(4339-4341)CAG>AAG		neurofibromin isoform 1							37.0	33.0	35.0					17																	29586056		2202	4298	6500	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.chr17:29586056C>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.4339C>A	17.37:g.29586056C>A	ENSP00000351015:p.Gln1447Lys	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Missense_Mutation_p.Q1426K|NF1_uc002hgi.1_Missense_Mutation_p.Q459K	p.Q1447K	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)	33	4672	+		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)	1447			Ras-GAP.		O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.4339C>A	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.984457	0.74474	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	D;D;D	0.87103	-2.21;-2.21;-2.21	5.78	5.78	0.91487	Rho GTPase activation protein (1);Armadillo-type fold (1);Ras GTPase-activating protein (4);	0.056413	0.64402	D	0.000001	D	0.95586	0.8565	H	0.95850	3.73	0.80722	D	1	D;P;B	0.54207	0.965;0.811;0.452	P;P;P	0.60789	0.87;0.879;0.469	D	0.96388	0.9287	10	0.87932	D	0	.	20.017	0.97481	0.0:1.0:0.0:0.0	.	476;1426;1447	Q59FX3;P21359-2;P21359	.;.;NF1_HUMAN	K	1447;1426;1092	ENSP00000351015:Q1447K;ENSP00000348498:Q1426K;ENSP00000389907:Q1092K	ENSP00000348498:Q1426K	Q	+	1	0	NF1	26610182	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	7.186000	0.77722	2.732000	0.93576	0.555000	0.69702	CAG		0.308	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
DHX40	79665	broad.mit.edu	37	17	57651146	57651146	+	Missense_Mutation	SNP	C	C	G	rs2523371	byFrequency	TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr17:57651146C>G	ENST00000251241.4	+	5	739	c.592C>G	c.(592-594)Cct>Gct	p.P198A	DHX40_ENST00000451169.2_Missense_Mutation_p.P99A|DHX40_ENST00000425628.3_Missense_Mutation_p.P121A	NM_024612.4	NP_078888.4	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	198	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GGAGAAGTCTCCTAATAGGAA	0.343													C|||	3	0.000599042	0.0008	0.0	5008	,	,		17827	0.0		0.002	False		,,,				2504	0.0					uc002ixn.1																			0					0						c.(592-594)CCT>GCT		DEAH (Asp-Glu-Ala-His) box polypeptide 40							79.0	77.0	78.0					17																	57651146		2203	4300	6503	SO:0001583	missense	79665						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr17:57651146C>G	AF260270	CCDS11617.1, CCDS54150.1	17q22	2014-01-28	2003-06-13	2003-06-20		ENSG00000108406		"""DEAH-boxes"""	18018	protein-coding gene	gene with protein product		607570	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 40 (RNA helicase)"""	DDX40			Standard	NM_024612		Approved	ARG147, PAD, FLJ22060	uc002ixn.2	Q8IX18		ENST00000251241.4:c.592C>G	17.37:g.57651146C>G	ENSP00000251241:p.Pro198Ala					DHX40_uc010woe.1_Missense_Mutation_p.P121A|DHX40_uc002ixo.1_Missense_Mutation_p.P99A	p.P198A	NM_024612	NP_078888	Q8IX18	DHX40_HUMAN			5	739	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		198			Helicase ATP-binding.		B3KTJ5|C9JR60|Q5JPH4|Q8TC86|Q8WY53|Q9BXM1|Q9H6M9	Missense_Mutation	SNP	ENST00000251241.4	37	c.592C>G	CCDS11617.1	82	0.037545787545787544	18	0.036585365853658534	8	0.022099447513812154	20	0.03496503496503497	36	0.047493403693931395	C	8.533	0.871533	0.17322	.	.	ENSG00000108406	ENST00000251241;ENST00000538926;ENST00000425628;ENST00000451169	T;T	0.08282	3.11;3.11	5.56	5.56	0.83823	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.356560	0.32244	N	0.006373	T	0.01092	0.0036	L	0.28054	0.825	0.36950	D	0.89279	B;B	0.14805	0.003;0.011	B;B	0.11329	0.002;0.006	T	0.36187	-0.9758	10	0.34782	T	0.22	.	15.2101	0.73214	0.0:0.8604:0.1396:0.0	rs2523371	121;198	F5H625;Q8IX18	.;DHX40_HUMAN	A	198;121;198;99	ENSP00000251241:P198A;ENSP00000396039:P99A	ENSP00000251241:P198A	P	+	1	0	DHX40	55005928	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	2.755000	0.47540	2.777000	0.95525	0.655000	0.94253	CCT		0.343	DHX40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446095.1	NM_024612	
LAMA1	284217	broad.mit.edu	37	18	7011447	7011447	+	Missense_Mutation	SNP	C	C	T	rs543432434		TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr18:7011447C>T	ENST00000389658.3	-	25	3632	c.3539G>A	c.(3538-3540)cGt>cAt	p.R1180H		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1180	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				AGAAACCACACGCAGAAGAGG	0.552																																						uc002knm.2																			0				ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(3538-3540)CGT>CAT		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						29.0	29.0	29.0					18																	7011447		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7011447C>T	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.3539G>A	18.37:g.7011447C>T	ENSP00000374309:p.Arg1180His					LAMA1_uc010wzj.1_Missense_Mutation_p.R656H	p.R1180H	NM_005559	NP_005550	P25391	LAMA1_HUMAN			25	3633	-		Colorectal(10;0.172)	1180			Laminin IV type A 2.			Missense_Mutation	SNP	ENST00000389658.3	37	c.3539G>A	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	c	12.69	2.014482	0.35511	.	.	ENSG00000101680	ENST00000389658	T	0.18174	2.23	5.87	4.08	0.47627	Laminin B type IV (1);	0.503034	0.19034	N	0.124469	T	0.08758	0.0217	N	0.16478	0.41	0.20307	N	0.999918	B	0.13594	0.008	B	0.09377	0.004	T	0.38650	-0.9651	10	0.12430	T	0.62	.	6.9399	0.24486	0.0:0.6178:0.0:0.3822	.	1180	P25391	LAMA1_HUMAN	H	1180	ENSP00000374309:R1180H	ENSP00000374309:R1180H	R	-	2	0	LAMA1	7001447	0.002000	0.14202	0.987000	0.45799	0.946000	0.59487	-0.184000	0.09698	0.809000	0.34255	-0.131000	0.14894	CGT		0.552	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	
MBD1	4152	broad.mit.edu	37	18	47803460	47803460	+	Splice_Site	SNP	C	C	T			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr18:47803460C>T	ENST00000591416.1	-	3	656	c.225G>A	c.(223-225)aaG>aaA	p.K75K	MBD1_ENST00000349085.2_Splice_Site_p.K75K|MBD1_ENST00000269468.5_Splice_Site_p.K75K|MBD1_ENST00000587605.1_Splice_Site_p.K75K|MBD1_ENST00000382948.5_Splice_Site_p.K75K|MBD1_ENST00000339998.6_Splice_Site_p.K75K|MBD1_ENST00000424334.2_Splice_Site_p.K101K|MBD1_ENST00000398488.1_Splice_Site_p.K75K|MBD1_ENST00000398495.2_Splice_Site_p.K75K|MBD1_ENST00000353909.3_Splice_Site_p.K75K|MBD1_ENST00000436910.1_Splice_Site_p.K75K|MBD1_ENST00000457839.2_Splice_Site_p.K75K|MBD1_ENST00000398493.1_Splice_Site_p.K75K|MBD1_ENST00000269471.5_Splice_Site_p.K75K|MBD1_ENST00000588937.1_Splice_Site_p.K75K|MBD1_ENST00000590208.1_Splice_Site_p.K75K|MBD1_ENST00000585595.1_Splice_Site_p.K75K|MBD1_ENST00000347968.3_Splice_Site_p.K75K|MBD1_ENST00000585672.1_Splice_Site_p.K75K|MBD1_ENST00000591535.1_Splice_Site_p.K75K			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	75					negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						TGTGAAGTACCTTGGGGGCTG	0.537																																						uc010dow.1																			0				ovary(1)|central_nervous_system(1)	2						c.(223-225)AAG>AAA		methyl-CpG binding domain protein 1 isoform 1							105.0	94.0	98.0					18																	47803460		2203	4300	6503	SO:0001630	splice_region_variant	4152				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr18:47803460C>T	Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.225+1G>A	18.37:g.47803460C>T						MBD1_uc002lef.2_5'Flank|MBD1_uc002leg.2_Silent_p.K75K|MBD1_uc010xdi.1_Silent_p.K101K|MBD1_uc002leh.3_Silent_p.K75K|MBD1_uc002len.2_Silent_p.K75K|MBD1_uc002lei.3_Silent_p.K75K|MBD1_uc002lej.3_Silent_p.K75K|MBD1_uc002lek.3_Silent_p.K75K|MBD1_uc002lel.3_Silent_p.K75K|MBD1_uc002lem.3_Silent_p.K75K|MBD1_uc010xdj.1_Silent_p.K75K|MBD1_uc010xdk.1_Silent_p.K75K|MBD1_uc010dox.1_Silent_p.K75K|MBD1_uc002leo.2_Silent_p.K75K	p.K75K	NM_015846	NP_056671	Q9UIS9	MBD1_HUMAN			3	662	-			75					A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Silent	SNP	ENST00000591416.1	37	c.225G>A	CCDS11943.1																																																																																				0.537	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3	NM_015846	Silent
FECH	2235	broad.mit.edu	37	18	55238743	55238743	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr18:55238743C>T	ENST00000262093.5	-	4	495	c.344G>A	c.(343-345)cGa>cAa	p.R115Q	FECH_ENST00000382873.3_Missense_Mutation_p.R121Q|FECH_ENST00000585699.1_5'UTR	NM_000140.3|NM_001012515.2	NP_000131.2|NP_001012533.1	P22830	HEMH_HUMAN	ferrochelatase	115					cellular response to dexamethasone stimulus (GO:0071549)|cholesterol metabolic process (GO:0008203)|detection of UV (GO:0009589)|erythrocyte differentiation (GO:0030218)|generation of precursor metabolites and energy (GO:0006091)|heme biosynthetic process (GO:0006783)|iron ion homeostasis (GO:0055072)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|regulation of gene expression (GO:0010468)|regulation of hemoglobin biosynthetic process (GO:0046984)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to insecticide (GO:0017085)|response to lead ion (GO:0010288)|response to light stimulus (GO:0009416)|response to methylmercury (GO:0051597)|response to platinum ion (GO:0070541)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle assembly (GO:0034379)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	2 iron, 2 sulfur cluster binding (GO:0051537)|ferrochelatase activity (GO:0004325)|ferrous iron binding (GO:0008198)|heme binding (GO:0020037)|iron-responsive element binding (GO:0030350)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15		Colorectal(73;0.227)				CTTGGGGGTTCGGCGTTTGGC	0.473																																						uc002lgq.3																			0				central_nervous_system(1)	1						c.(343-345)CGA>CAA		ferrochelatase isoform b precursor							140.0	130.0	133.0					18																	55238743		2203	4300	6503	SO:0001583	missense	2235				generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding	g.chr18:55238743C>T	D00726	CCDS11964.1, CCDS32836.1	18q21.2-q21.3	2010-05-11	2010-05-11		ENSG00000066926	ENSG00000066926	4.99.1.1		3647	protein-coding gene	gene with protein product	"""protoporphyria"""	612386	"""ferrochelatase (protoporphyria)"""			1838349	Standard	NM_001012515		Approved		uc002lgp.4	P22830	OTTHUMG00000132740	ENST00000262093.5:c.344G>A	18.37:g.55238743C>T	ENSP00000262093:p.Arg115Gln					FECH_uc002lgp.3_Missense_Mutation_p.R121Q|FECH_uc002lgr.3_5'UTR	p.R115Q	NM_000140	NP_000131	P22830	HEMH_HUMAN			4	461	-		Colorectal(73;0.227)	115					A8KA72|Q8IXN1|Q8NAN0	Missense_Mutation	SNP	ENST00000262093.5	37	c.344G>A	CCDS11964.1	.	.	.	.	.	.	.	.	.	.	C	36	5.809657	0.96975	.	.	ENSG00000066926	ENST00000262093;ENST00000382873	D;D	0.98313	-4.86;-4.86	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.99375	0.9780	H	0.96518	3.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98688	1.0695	10	0.87932	D	0	-16.8182	19.6196	0.95650	0.0:1.0:0.0:0.0	.	115;121	P22830;P22830-2	HEMH_HUMAN;.	Q	115;121	ENSP00000262093:R115Q;ENSP00000372326:R121Q	ENSP00000262093:R115Q	R	-	2	0	FECH	53389741	1.000000	0.71417	0.999000	0.59377	0.927000	0.56198	7.663000	0.83820	2.750000	0.94351	0.561000	0.74099	CGA		0.473	FECH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256098.1		
PIAS4	51588	broad.mit.edu	37	19	4029001	4029001	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr19:4029001G>A	ENST00000262971.2	+	7	989	c.874G>A	c.(874-876)Ggg>Agg	p.G292R		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	292					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAGACCATTGGGGTAAAGCA	0.652																																						uc002lzg.2																			0				pancreas(1)	1						c.(874-876)GGG>AGG		protein inhibitor of activated STAT, 4							26.0	25.0	25.0					19																	4029001		2198	4298	6496	SO:0001583	missense	51588				positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding	g.chr19:4029001G>A	AF077952	CCDS12118.1	19p13.3	2011-10-11						"""Zinc fingers, MIZ-type"""	17002	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 6"""	605989				9724754	Standard	NM_015897		Approved	Piasg, PIASY, FLJ12419, ZMIZ6	uc002lzg.3	Q8N2W9		ENST00000262971.2:c.874G>A	19.37:g.4029001G>A	ENSP00000262971:p.Gly292Arg						p.G292R	NM_015897	NP_056981	Q8N2W9	PIAS4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	7	884	+			292					O75926|Q96G19|Q9UN16	Missense_Mutation	SNP	ENST00000262971.2	37	c.874G>A	CCDS12118.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834729	0.91036	.	.	ENSG00000105229	ENST00000262971	T	0.33654	1.4	4.67	4.67	0.58626	.	0.128365	0.52532	D	0.000063	T	0.46776	0.1410	L	0.45352	1.415	0.58432	D	0.999997	D	0.55172	0.97	P	0.55161	0.77	T	0.50625	-0.8806	10	0.87932	D	0	-43.4107	16.5969	0.84799	0.0:0.0:1.0:0.0	.	292	Q8N2W9	PIAS4_HUMAN	R	292	ENSP00000262971:G292R	ENSP00000262971:G292R	G	+	1	0	PIAS4	3980001	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.496000	0.60360	2.155000	0.67459	0.555000	0.69702	GGG		0.652	PIAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457496.1	NM_015897	
RGL3	57139	broad.mit.edu	37	19	11512738	11512738	+	Missense_Mutation	SNP	G	G	A	rs370513538		TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr19:11512738G>A	ENST00000380456.3	-	13	1496	c.1433C>T	c.(1432-1434)cCg>cTg	p.P478L	RGL3_ENST00000393423.3_Missense_Mutation_p.P478L	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	478	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						CAGGATGGGCGGGTGGGGGCT	0.672																																					GBM(174;751 2067 17998 27979 33959)	uc002mrp.2																			0				ovary(1)	1						c.(1432-1434)CCG>CTG		ral guanine nucleotide dissociation							28.0	34.0	32.0					19																	11512738		2202	4299	6501	SO:0001583	missense	57139				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular		g.chr19:11512738G>A	BC014426	CCDS32910.1, CCDS54221.1	19p13.2	2008-02-05				ENSG00000205517			30282	protein-coding gene	gene with protein product						10869344	Standard	NM_001035223		Approved	FLJ32585	uc002mro.2	Q3MIN7		ENST00000380456.3:c.1433C>T	19.37:g.11512738G>A	ENSP00000369823:p.Pro478Leu					RGL3_uc002mrn.2_Missense_Mutation_p.P242L|RGL3_uc002mrm.2_Missense_Mutation_p.P242L|RGL3_uc002mro.2_Missense_Mutation_p.P478L	p.P478L	NM_001035223	NP_001030300	Q3MIN7	RGL3_HUMAN			13	1497	-			478			Ras-GEF.		B5ME84|B7ZL22|Q0P6G0	Missense_Mutation	SNP	ENST00000380456.3	37	c.1433C>T	CCDS32910.1	.	.	.	.	.	.	.	.	.	.	G	6.774	0.511755	0.12944	.	.	ENSG00000205517	ENST00000342684;ENST00000393423;ENST00000380456	T;T	0.34667	1.35;1.35	4.6	2.39	0.29439	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.173130	0.51477	N	0.000086	T	0.33818	0.0876	M	0.82433	2.59	0.09310	N	0.999991	B;P;B;P	0.39022	0.254;0.655;0.254;0.545	B;B;B;B	0.27076	0.035;0.076;0.035;0.065	T	0.32214	-0.9915	10	0.59425	D	0.04	.	8.6211	0.33861	0.2086:0.0:0.7914:0.0	.	478;478;478;275	Q3MIN7;B5ME84;B7ZL22;Q8TEP0	RGL3_HUMAN;.;.;.	L	275;478;478	ENSP00000377075:P478L;ENSP00000369823:P478L	ENSP00000344665:P275L	P	-	2	0	RGL3	11373738	0.048000	0.20356	0.005000	0.12908	0.041000	0.13682	1.337000	0.33862	0.340000	0.23745	0.557000	0.71058	CCG		0.672	RGL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421208.3	XM_290867	
CC2D1A	54862	broad.mit.edu	37	19	14034593	14034593	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr19:14034593C>T	ENST00000318003.7	+	17	2150	c.1909C>T	c.(1909-1911)Cgc>Tgc	p.R637C	CC2D1A_ENST00000589606.1_Missense_Mutation_p.R637C	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	637					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|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 negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GCCCACCGCCCGCTTTGAGCA	0.627																																						uc002mxo.2																			0					0						c.(1909-1911)CGC>TGC		coiled-coil and C2 domain containing 1A							59.0	65.0	63.0					19																	14034593		2002	4161	6163	SO:0001583	missense	54862				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity	g.chr19:14034593C>T	AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"""mental retardation, nonsyndromic, autosomal recessive, 3"""	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.1909C>T	19.37:g.14034593C>T	ENSP00000313601:p.Arg637Cys					CC2D1A_uc002mxp.2_Missense_Mutation_p.R637C|CC2D1A_uc010dzh.2_Missense_Mutation_p.R206C|CC2D1A_uc002mxq.1_Missense_Mutation_p.R282C	p.R637C	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)		17	2208	+			637					Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Missense_Mutation	SNP	ENST00000318003.7	37	c.1909C>T	CCDS42512.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987995	0.74589	.	.	ENSG00000132024	ENST00000318003;ENST00000254346	T	0.22743	1.94	4.68	4.68	0.58851	.	0.123229	0.56097	D	0.000031	T	0.35828	0.0945	L	0.47716	1.5	0.48901	D	0.99972	D;D;D	0.89917	0.998;0.999;1.0	P;P;P	0.58266	0.836;0.804;0.794	T	0.16217	-1.0410	10	0.87932	D	0	-11.9526	16.3716	0.83364	0.0:1.0:0.0:0.0	.	259;637;637	Q9NX28;Q6P1N0-2;Q6P1N0	.;.;C2D1A_HUMAN	C	637;260	ENSP00000313601:R637C	ENSP00000254346:R260C	R	+	1	0	CC2D1A	13895593	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	5.121000	0.64691	2.144000	0.66660	0.561000	0.74099	CGC		0.627	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457954.1	NM_017721	
BRD4	23476	broad.mit.edu	37	19	15374294	15374294	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr19:15374294G>T	ENST00000263377.2	-	7	1499	c.1278C>A	c.(1276-1278)ttC>ttA	p.F426L	BRD4_ENST00000360016.5_Missense_Mutation_p.F426L|BRD4_ENST00000371835.4_Missense_Mutation_p.F426L|BRD4_ENST00000602230.1_5'UTR	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	426	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			AGCAGTTGGAGAACATCAATC	0.562			T	C15orf55	lethal midline carcinoma of young people																																	uc002nar.2				Dom	yes		19	19p13.1	23476	T	bromodomain containing 4			E	NUT|C15orf55		lethal midline carcinoma of young people		0				ovary(2)	2						c.(1276-1278)TTC>TTA		bromodomain-containing protein 4 isoform long							138.0	103.0	115.0					19																	15374294		2203	4300	6503	SO:0001583	missense	23476				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	g.chr19:15374294G>T	Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.1278C>A	19.37:g.15374294G>T	ENSP00000263377:p.Phe426Leu					BRD4_uc002nas.2_Missense_Mutation_p.F426L|BRD4_uc002nat.3_Missense_Mutation_p.F426L|BRD4_uc002nau.3_Missense_Mutation_p.F426L	p.F426L	NM_058243	NP_490597	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		7	1500	-			426			Bromo 2.		O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	ENST00000263377.2	37	c.1278C>A	CCDS12328.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.507235	0.64410	.	.	ENSG00000141867	ENST00000263377;ENST00000371835;ENST00000360016	T;T;T	0.35789	1.29;1.29;1.29	4.58	-0.786	0.10946	Bromodomain (6);	0.000000	0.64402	D	0.000004	T	0.53012	0.1770	M	0.76838	2.35	0.52099	D	0.999946	D;D;D	0.89917	1.0;0.994;0.997	D;P;D	0.79784	0.993;0.862;0.989	T	0.53351	-0.8451	10	0.62326	D	0.03	-17.7447	8.1136	0.30928	0.4938:0.0:0.5062:0.0	.	426;426;426	Q4G0X8;O60885-2;O60885	.;.;BRD4_HUMAN	L	426	ENSP00000263377:F426L;ENSP00000360901:F426L;ENSP00000353112:F426L	ENSP00000263377:F426L	F	-	3	2	BRD4	15235294	0.999000	0.42202	1.000000	0.80357	0.991000	0.79684	0.733000	0.26087	0.123000	0.18342	0.407000	0.27541	TTC		0.562	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243	
CYP4F3	4051	broad.mit.edu	37	19	15763403	15763403	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr19:15763403G>A	ENST00000221307.8	+	8	990	c.943G>A	c.(943-945)Gat>Aat	p.D315N	CYP4F3_ENST00000586182.2_Missense_Mutation_p.D315N|CYP4F3_ENST00000591058.1_Missense_Mutation_p.D315N|CYP4F3_ENST00000585846.1_Missense_Mutation_p.D315N	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	315					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						GAAGTTGTCCGATGAGGACAT	0.517																																						uc002nbj.2																			0				ovary(3)	3						c.(943-945)GAT>AAT		cytochrome P450, family 4, subfamily F,							176.0	168.0	171.0					19																	15763403		2203	4300	6503	SO:0001583	missense	4051				leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	g.chr19:15763403G>A	AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"""Cytochrome P450s"""	2646	protein-coding gene	gene with protein product		601270	"""cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"""	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.943G>A	19.37:g.15763403G>A	ENSP00000221307:p.Asp315Asn					CYP4F3_uc010xok.1_Missense_Mutation_p.D315N|CYP4F3_uc010xol.1_Missense_Mutation_p.D315N|CYP4F3_uc010xom.1_Missense_Mutation_p.D166N|CYP4F3_uc002nbk.2_Missense_Mutation_p.D315N|CYP4F3_uc010xon.1_Missense_Mutation_p.D25N	p.D315N	NM_000896	NP_000887	Q08477	CP4F3_HUMAN			8	993	+			315					B7Z8Z3|O60634|Q5U740	Missense_Mutation	SNP	ENST00000221307.8	37	c.943G>A	CCDS12332.1	.	.	.	.	.	.	.	.	.	.	.	17.73	3.462301	0.63513	.	.	ENSG00000186529	ENST00000538865;ENST00000221307	T	0.71222	-0.55	3.49	2.4	0.29515	.	0.171301	0.35970	U	0.002870	T	0.70072	0.3182	L	0.54323	1.7	0.45216	D	0.998229	P;P;P	0.50710	0.938;0.938;0.938	P;P;P	0.51297	0.665;0.665;0.665	T	0.71692	-0.4516	10	0.56958	D	0.05	.	8.8037	0.34925	0.1195:0.0:0.8805:0.0	.	25;315;315	B7Z8I6;B7Z8Z3;Q08477	.;.;CP4F3_HUMAN	N	242;315	ENSP00000221307:D315N	ENSP00000221307:D315N	D	+	1	0	CYP4F3	15624403	1.000000	0.71417	0.989000	0.46669	0.811000	0.45836	6.232000	0.72313	1.781000	0.52344	0.491000	0.48974	GAT		0.517	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896	
LRP3	4037	broad.mit.edu	37	19	33695616	33695616	+	Silent	SNP	A	A	C			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr19:33695616A>C	ENST00000253193.7	+	4	535	c.333A>C	c.(331-333)ccA>ccC	p.P111P	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	111	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)		p.P111P(1)		breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					CAGCAGCCCCACCCCGCCAGG	0.662																																						uc010edh.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(331-333)CCA>CCC		low density lipoprotein receptor-related protein							56.0	59.0	58.0					19																	33695616		2203	4299	6502	SO:0001819	synonymous_variant	4037				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity	g.chr19:33695616A>C	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"""Low density lipoprotein receptors"""	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.333A>C	19.37:g.33695616A>C						LRP3_uc010xrp.1_5'UTR|LRP3_uc002nuk.3_5'UTR	p.P111P	NM_002333	NP_002324	O75074	LRP3_HUMAN			4	426	+	Esophageal squamous(110;0.137)		111			Extracellular (Potential).|CUB 1.		B3KQD6|B4DKF2	Silent	SNP	ENST00000253193.7	37	c.333A>C	CCDS12430.1																																																																																				0.662	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4		
FCGBP	8857	broad.mit.edu	37	19	40368569	40368569	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr19:40368569C>G	ENST00000221347.6	-	28	12786	c.12779G>C	c.(12778-12780)cGg>cCg	p.R4260P		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4260	VWFD 10. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCAGGACCCCCGACATTCGTC	0.662																																						uc002omp.3																			0				ovary(4)|skin(4)|central_nervous_system(1)	9						c.(12778-12780)CGG>CCG		Fc fragment of IgG binding protein precursor							14.0	17.0	16.0					19																	40368569		2186	4231	6417	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40368569C>G	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.12779G>C	19.37:g.40368569C>G	ENSP00000221347:p.Arg4260Pro						p.R4260P	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		28	12787	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4260			VWFD 10.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.12779G>C	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.481108	0.01027	.	.	ENSG00000090920	ENST00000221347	T	0.19938	2.11	4.45	1.12	0.20585	von Willebrand factor, type D domain (1);	0.542725	0.17584	U	0.169010	T	0.06554	0.0168	N	0.02169	-0.655	0.21325	N	0.99972	B	0.02656	0.0	B	0.01281	0.0	T	0.35450	-0.9788	10	0.26408	T	0.33	.	5.5661	0.17170	0.0:0.2343:0.2512:0.5145	.	4260	Q9Y6R7	FCGBP_HUMAN	P	4260	ENSP00000221347:R4260P	ENSP00000221347:R4260P	R	-	2	0	FCGBP	45060409	0.000000	0.05858	0.904000	0.35570	0.004000	0.04260	-0.115000	0.10741	-0.362000	0.08113	-3.925000	0.00016	CGG		0.662	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890	
LIPE	3991	broad.mit.edu	37	19	42909550	42909550	+	Silent	SNP	C	C	T			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr19:42909550C>T	ENST00000244289.4	-	8	2805	c.2529G>A	c.(2527-2529)tcG>tcA	p.S843S	LIPE_ENST00000602000.1_5'Flank|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000593491.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	843					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				CTATGGGCTCCGACATCTTCT	0.617																																						uc002otr.2																			0				ovary(1)|breast(1)	2						c.(2527-2529)TCG>TCA		hormone-sensitive lipase							50.0	42.0	45.0					19																	42909550		2203	4300	6503	SO:0001819	synonymous_variant	3991				cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	g.chr19:42909550C>T	L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.2529G>A	19.37:g.42909550C>T						uc010eif.1_Intron	p.S843S	NM_005357	NP_005348	Q05469	LIPS_HUMAN			8	2806	-		Prostate(69;0.00682)	843					Q3LRT2|Q6NSL7	Silent	SNP	ENST00000244289.4	37	c.2529G>A	CCDS12607.1																																																																																				0.617	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357	
SIGLEC11	114132	broad.mit.edu	37	19	50461997	50461997	+	Silent	SNP	C	C	T			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr19:50461997C>T	ENST00000447370.2	-	7	1356	c.1266G>A	c.(1264-1266)gaG>gaA	p.E422E	CTC-326K19.6_ENST00000451973.1_5'Flank|SIGLEC11_ENST00000426971.2_Silent_p.E422E	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	422	Ig-like C2-type 3.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.E410D(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		TGGGTGGCAGCTCCAGGACCC	0.667																																						uc010ybh.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(1264-1266)GAG>GAA		sialic acid binding Ig-like lectin 11 isoform 1							59.0	59.0	59.0					19																	50461997		2203	4300	6503	SO:0001819	synonymous_variant	114132				cell adhesion	integral to membrane	sugar binding	g.chr19:50461997C>T	AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.1266G>A	19.37:g.50461997C>T						SIGLEC11_uc010ybi.1_Silent_p.E422E	p.E422E	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)	7	1357	-		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	422			Ig-like C2-type 3.|Extracellular (Potential).			Silent	SNP	ENST00000447370.2	37	c.1266G>A	CCDS12790.2	.	.	.	.	.	.	.	.	.	.	C	7.885	0.731053	0.15507	.	.	ENSG00000161640	ENST00000426971	.	.	.	3.1	-2.83	0.05769	.	.	.	.	.	T	0.21227	0.0511	.	.	.	0.26011	N	0.981989	.	.	.	.	.	.	T	0.31888	-0.9927	4	.	.	.	.	4.0635	0.09849	0.0:0.3705:0.3902:0.2393	.	.	.	.	N	412	.	.	S	-	2	0	SIGLEC11	55153809	0.001000	0.12720	0.013000	0.15412	0.324000	0.28378	-1.292000	0.02772	-0.172000	0.10779	0.556000	0.70494	AGC		0.667	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884	
ZNF525	170958	broad.mit.edu	37	19	53885037	53885037	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr19:53885037G>A	ENST00000355326.3	+	1	359	c.359G>A	c.(358-360)cGt>cAt	p.R120H	ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000467003.1_Missense_Mutation_p.R366H|ZNF525_ENST00000474037.1_Missense_Mutation_p.R402H|ZNF525_ENST00000475179.1_Intron			Q8N782	ZN525_HUMAN	zinc finger protein 525	120					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(3)|lung(3)	9						ACATGCCATCGTAGACTTCAT	0.383																																						uc010eqn.2																			0					0						c.(1096-1098)CGT>CAT		Homo sapiens cDNA FLJ39718 fis, clone SMINT2013695.																																				SO:0001583	missense	170958							g.chr19:53885037G>A	AB075859		19q13.42	2013-01-16			ENSG00000203326	ENSG00000203326		"""Zinc fingers, C2H2-type"", ""-"""	29423	protein-coding gene	gene with protein product						11853319	Standard	NR_003699		Approved	KIAA1979	uc010eqn.3	Q8N782	OTTHUMG00000158277	ENST00000355326.3:c.359G>A	19.37:g.53885037G>A	ENSP00000408929:p.Arg120His					ZNF525_uc002qbl.2_Intron|ZNF765_uc010ydx.1_Intron	p.R366H	NR_003699						4	1290	+								Q8TF23	Missense_Mutation	SNP	ENST00000355326.3	37	c.1097G>A		.	.	.	.	.	.	.	.	.	.	G	6.326	0.428182	0.11987	.	.	ENSG00000203326	ENST00000474037;ENST00000467003;ENST00000355326	T;T;T	0.37584	2.21;2.21;1.19	1.64	-2.74	0.05932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24160	0.0585	.	.	.	0.09310	N	1	B	0.23316	0.083	B	0.19666	0.026	T	0.22871	-1.0204	8	0.56958	D	0.05	.	7.7338	0.28802	0.8576:0.0:0.1424:0.0	.	120	Q8N782	ZN525_HUMAN	H	402;366;120	ENSP00000417696:R402H;ENSP00000419136:R366H;ENSP00000408929:R120H	ENSP00000408929:R120H	R	+	2	0	ZNF525	58576849	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-1.560000	0.02160	-0.668000	0.05296	-1.809000	0.00614	CGT		0.383	ZNF525-201	KNOWN	basic	protein_coding	protein_coding		NR_003699	
NLRP12	91662	broad.mit.edu	37	19	54314437	54314437	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr19:54314437C>T	ENST00000324134.6	-	3	644	c.476G>A	c.(475-477)cGg>cAg	p.R159Q	NLRP12_ENST00000391772.1_Missense_Mutation_p.R159Q|NLRP12_ENST00000351894.4_Missense_Mutation_p.R159Q|NLRP12_ENST00000354278.3_Missense_Mutation_p.R159Q|NLRP12_ENST00000391773.1_Missense_Mutation_p.R159Q|NLRP12_ENST00000391775.3_Missense_Mutation_p.R159Q|NLRP12_ENST00000345770.5_Missense_Mutation_p.R159Q|NLRP12_ENST00000535162.1_Missense_Mutation_p.R159Q	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	159					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CAGCAGGAGCCGGGTGTACCG	0.617																																						uc002qch.3																			0				ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7						c.(475-477)CGG>CAG		NLR family, pyrin domain containing 12 isoform							80.0	77.0	78.0					19																	54314437		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54314437C>T	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.476G>A	19.37:g.54314437C>T	ENSP00000319377:p.Arg159Gln					NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.R159Q|NLRP12_uc002qcj.3_Missense_Mutation_p.R159Q|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.R159Q	p.R159Q	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	3	696	-	Ovarian(34;0.19)		159					A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.476G>A	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.865059	0.51482	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28;-2.28;-2.28;-2.28	4.47	2.3	0.28687	.	0.000000	0.39834	N	0.001255	T	0.74268	0.3694	L	0.46741	1.465	0.80722	D	1	P;P;P;P	0.46578	0.852;0.852;0.852;0.88	B;B;B;B	0.26864	0.054;0.054;0.054;0.074	T	0.71941	-0.4440	10	0.48119	T	0.1	.	5.904	0.18982	0.0:0.6849:0.0:0.3151	.	159;159;159;159	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	Q	159	ENSP00000319377:R159Q;ENSP00000438030:R159Q;ENSP00000340473:R159Q;ENSP00000346231:R159Q;ENSP00000375655:R159Q;ENSP00000375653:R159Q;ENSP00000375652:R159Q	ENSP00000319377:R159Q	R	-	2	0	NLRP12	59006249	0.001000	0.12720	0.925000	0.36789	0.985000	0.73830	0.784000	0.26816	1.026000	0.39733	0.306000	0.20318	CGG		0.617	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687	
FCAR	2204	broad.mit.edu	37	19	55385735	55385735	+	5'Flank	SNP	G	G	A	rs549456933		TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr19:55385735G>A	ENST00000355524.3	+	0	0				FCAR_ENST00000391724.3_5'Flank|FCAR_ENST00000353758.4_5'Flank|FCAR_ENST00000469767.1_5'Flank|FCAR_ENST00000345937.4_5'Flank|FCAR_ENST00000391725.3_5'Flank|FCAR_ENST00000359272.4_5'Flank|FCAR_ENST00000391726.3_5'UTR|FCAR_ENST00000391723.3_5'Flank	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for						immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		GGCTGAGGCCGTGTCAGCACG	0.493													.|||	1	0.000199681	0.0	0.0	5008	,	,		19072	0.0		0.0	False		,,,				2504	0.001					uc002qhr.1																			0				ovary(1)|skin(1)	2						c.(-12--8)CCGTG>CCATG		Fc alpha receptor isoform a precursor							140.0	126.0	131.0					19																	55385735		2203	4300	6503	SO:0001631	upstream_gene_variant	2204				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity	g.chr19:55385735G>A	X54150	CCDS12907.1, CCDS12908.1, CCDS12909.1, CCDS12910.1, CCDS42622.1, CCDS42623.1, CCDS42624.1, CCDS42625.1, CCDS46180.1	19q13.42	2013-01-29			ENSG00000186431	ENSG00000186431		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3608	protein-coding gene	gene with protein product		147045				1577457	Standard	NM_133269		Approved	CD89	uc002qhr.1	P24071	OTTHUMG00000065936		19.37:g.55385735G>A	Exception_encountered					FCAR_uc002qhq.2_Translation_Start_Site|FCAR_uc002qhs.1_RNA|FCAR_uc002qht.1_Translation_Start_Site|FCAR_uc010esi.1_Translation_Start_Site|FCAR_uc002qhu.1_Translation_Start_Site|FCAR_uc002qhv.1_Translation_Start_Site|FCAR_uc002qhw.1_Translation_Start_Site|FCAR_uc002qhx.1_Translation_Start_Site|FCAR_uc002qhy.1_Translation_Start_Site|FCAR_uc002qhz.1_Translation_Start_Site|FCAR_uc002qia.1_Translation_Start_Site		NM_002000	NP_001991	P24071	FCAR_HUMAN		GBM - Glioblastoma multiforme(193;0.0443)	1	187	+								Q13603|Q13604|Q15727|Q15728|Q1AJL7|Q1AJL8|Q1AJL9|Q53X38|Q53X39|Q92587|Q92588|Q92590|Q92592|Q92593|Q9UEK0	Translation_Start_Site	SNP	ENST00000355524.3	37	c.-10G>A	CCDS12907.1																																																																																				0.493	FCAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141243.1	NM_002000	
NLRP8	126205	broad.mit.edu	37	19	56485114	56485114	+	Silent	SNP	C	C	T	rs182237860		TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr19:56485114C>T	ENST00000291971.3	+	7	2702	c.2631C>T	c.(2629-2631)aaC>aaT	p.N877N	NLRP8_ENST00000590542.1_Silent_p.N858N	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	877					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TGGCAGAAAACGCCTTGAAAG	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		20130	0.001		0.0	False		,,,				2504	0.0					uc002qmh.2																			0				ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13						c.(2629-2631)AAC>AAT		NLR family, pyrin domain containing 8							160.0	147.0	152.0					19																	56485114		2203	4300	6503	SO:0001819	synonymous_variant	126205					cytoplasm	ATP binding	g.chr19:56485114C>T	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.2631C>T	19.37:g.56485114C>T						NLRP8_uc010etg.2_Silent_p.N858N	p.N877N	NM_176811	NP_789781	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	7	2702	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	877			LRR 4.		Q7RTR4	Silent	SNP	ENST00000291971.3	37	c.2631C>T	CCDS12937.1																																																																																				0.493	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811	
Unknown	0	broad.mit.edu	37	2	132120971	132120971	+	IGR	SNP	A	A	G			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr2:132120971A>G								PLEKHB2 (9689 upstream) : AC073869.19 (39502 downstream)																							GACATCATCAATCCACTTTGT	0.428																																						uc002tsr.2																			0					0						c.(322-324)ATT>ACT		RAB6C-like							220.0	220.0	220.0					2																	132120971		2203	4300	6503	SO:0001628	intergenic_variant	150786				protein transport|small GTPase mediated signal transduction		GTP binding	g.chr2:132120971A>G																													2.37:g.132120971A>G							p.I108T	NM_001077637	NP_001071105	Q53S08	Q53S08_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.078)	1	761	-			108						Missense_Mutation	SNP		37	c.323T>C																																																																																				0	0.428								
LRP2	4036	broad.mit.edu	37	2	170113633	170113633	+	Splice_Site	SNP	C	C	T			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr2:170113633C>T	ENST00000263816.3	-	18	2925		c.e18+1		LRP2_ENST00000443831.1_Splice_Site	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2						cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TTCCTACTTACGCCCAATCGA	0.458																																						uc002ues.2																			0				ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.e18+1		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						92.0	90.0	90.0					2																	170113633		2203	4300	6503	SO:0001630	splice_region_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170113633C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.2639+1G>A	2.37:g.170113633C>T						LRP2_uc010zdf.1_Splice_Site_p.A743_splice	p.A880_splice	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	18	2852	-								O00711|Q16215	Splice_Site	SNP	ENST00000263816.3	37	c.2639_splice	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.474604	0.43942	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9038	0.96999	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRP2	169821879	1.000000	0.71417	0.976000	0.42696	0.047000	0.14425	7.371000	0.79600	2.791000	0.96007	0.591000	0.81541	.		0.458	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	Intron
HAT1	8520	broad.mit.edu	37	2	172841151	172841157	+	Frame_Shift_Del	DEL	TTGTCAA	TTGTCAA	-			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr2:172841151_172841157delTTGTCAA	ENST00000264108.4	+	9	915_921	c.879_885delTTGTCAA	c.(877-885)ctttgtcaafs	p.LCQ293fs	HAT1_ENST00000392584.1_Frame_Shift_Del_p.LCQ208fs|SLC25A12_ENST00000472748.1_Intron	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	293					chromatin organization (GO:0006325)|chromatin silencing at telomere (GO:0006348)|DNA packaging (GO:0006323)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4 acetylation (GO:0043967)|internal protein amino acid acetylation (GO:0006475)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	H4 histone acetyltransferase activity (GO:0010485)|histone acetyltransferase activity (GO:0004402)			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			TTGTGAAGCTTTGTCAAGATTTGCCCT	0.338																																						uc002uhi.2																			0				large_intestine(1)|ovary(1)	2						c.(877-885)CTTTGTCAAfs		histone acetyltransferase 1																																				SO:0001589	frameshift_variant	8520				chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding	g.chr2:172841151_172841157delTTGTCAA	AF030424	CCDS2245.1	2q31.2-q33.1	2011-07-01			ENSG00000128708	ENSG00000128708	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"""	4821	protein-coding gene	gene with protein product		603053				9427644	Standard	NM_003642		Approved	KAT1	uc002uhi.3	O14929	OTTHUMG00000132282	ENST00000264108.4:c.879_885delTTGTCAA	2.37:g.172841151_172841157delTTGTCAA	ENSP00000264108:p.Leu293fs					HAT1_uc010fqi.2_Frame_Shift_Del_p.L128fs|HAT1_uc002uhj.2_Frame_Shift_Del_p.L208fs	p.L293fs	NM_003642	NP_003633	O14929	HAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		9	955_961	+			293_295					Q49A44|Q53QF0|Q53SU4|Q6P594|Q8WWB9	Frame_Shift_Del	DEL	ENST00000264108.4	37	c.879_885delTTGTCAA	CCDS2245.1																																																																																				0.338	HAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255377.1	NM_003642	
TTN	7273	broad.mit.edu	37	2	179547505	179547505	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr2:179547505G>A	ENST00000591111.1	-	133	32286	c.32062C>T	c.(32062-32064)Cca>Tca	p.P10688S	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P9761S|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.P11005S|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTCTGTTGGTTCATACTCC	0.368																																						uc010zfg.1																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(29281-29283)CCA>TCA		titin isoform N2-A							283.0	259.0	267.0					2																	179547505		1857	4090	5947	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179547505G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.32062C>T	2.37:g.179547505G>A	ENSP00000465570:p.Pro10688Ser					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6422S|TTN_uc010fre.1_Missense_Mutation_p.P608S	p.P9761S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		132	29505	-			10688					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.29281C>T		.	.	.	.	.	.	.	.	.	.	G	6.964	0.547869	0.13312	.	.	ENSG00000155657	ENST00000342992;ENST00000414766	D;T	0.88201	-2.35;-0.02	5.18	5.18	0.71444	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	D	0.86414	0.5927	N	0.19112	0.55	0.80722	D	1	B;D	0.60575	0.421;0.988	B;P	0.56216	0.086;0.794	D	0.86917	0.2064	9	0.87932	D	0	.	9.3896	0.38365	0.0:0.1536:0.6876:0.1589	.	10688;10424	Q8WZ42;Q8WZ42-5	TITIN_HUMAN;.	S	9761;619	ENSP00000343764:P9761S;ENSP00000401501:P619S	ENSP00000343764:P9761S	P	-	1	0	TTN	179255750	0.541000	0.26417	0.996000	0.52242	0.548000	0.35241	1.996000	0.40776	2.575000	0.86900	0.655000	0.94253	CCA		0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
SGOL2	151246	broad.mit.edu	37	2	201436763	201436763	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr2:201436763C>A	ENST00000357799.4	+	7	1792	c.1694C>A	c.(1693-1695)aCa>aAa	p.T565K		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	565					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						CTAGACGTCACAAATGAATTT	0.323																																						uc002uvw.2																			0				ovary(2)|skin(2)	4						c.(1693-1695)ACA>AAA		shugoshin-like 2 isoform 1							64.0	64.0	64.0					2																	201436763		1826	4068	5894	SO:0001583	missense	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201436763C>A	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.1694C>A	2.37:g.201436763C>A	ENSP00000350447:p.Thr565Lys					SGOL2_uc010zhd.1_Missense_Mutation_p.T565K|SGOL2_uc010zhe.1_Missense_Mutation_p.T565K	p.T565K	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN			7	1807	+			565					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	c.1694C>A	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.917836	0.33815	.	.	ENSG00000163535	ENST00000357799	T	0.15718	2.4	4.69	3.81	0.43845	.	0.793165	0.11595	N	0.548329	T	0.37376	0.1001	M	0.62723	1.935	0.49213	D	0.999763	D;D;D	0.89917	1.0;1.0;0.993	D;D;P	0.85130	0.997;0.997;0.812	T	0.06935	-1.0799	10	0.72032	D	0.01	-1.2423	9.2283	0.37421	0.0:0.8319:0.0:0.1681	.	565;565;565	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	K	565	ENSP00000350447:T565K	ENSP00000350447:T565K	T	+	2	0	SGOL2	201145008	0.499000	0.26083	0.419000	0.26584	0.382000	0.30200	0.725000	0.25970	1.575000	0.49775	0.585000	0.79938	ACA		0.323	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524	
ZNF335	63925	broad.mit.edu	37	20	44590737	44590737	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr20:44590737G>A	ENST00000322927.2	-	10	1718	c.1618C>T	c.(1618-1620)Cgg>Tgg	p.R540W	ZNF335_ENST00000426788.1_Missense_Mutation_p.R385W	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	540					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GCGGCGTGCCGAATGACGTCC	0.622																																						uc002xqw.2																			0				skin(3)|ovary(1)	4						c.(1618-1620)CGG>TGG		zinc finger protein 335							161.0	127.0	138.0					20																	44590737		2203	4300	6503	SO:0001583	missense	63925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:44590737G>A	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.1618C>T	20.37:g.44590737G>A	ENSP00000325326:p.Arg540Trp					ZNF335_uc010zxk.1_Missense_Mutation_p.R385W	p.R540W	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN			10	1741	-		Myeloproliferative disorder(115;0.0122)	540			C2H2-type 4.		B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	ENST00000322927.2	37	c.1618C>T	CCDS13389.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.227289	0.58668	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	T;T	0.31510	1.49;1.49	4.87	3.92	0.45320	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.139560	0.49305	D	0.000157	T	0.40645	0.1125	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.993	T	0.33879	-0.9851	10	0.72032	D	0.01	-27.5599	11.8067	0.52158	0.0:0.0:0.6816:0.3184	.	385;540	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	W	540;317;385	ENSP00000325326:R540W;ENSP00000397098:R385W	ENSP00000243961:R317W	R	-	1	2	ZNF335	44024144	1.000000	0.71417	0.844000	0.33320	0.377000	0.30045	4.082000	0.57635	1.269000	0.44280	-0.448000	0.05591	CGG		0.622	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095	
ZBTB21	49854	broad.mit.edu	37	21	43411960	43411960	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr21:43411960C>T	ENST00000310826.5	-	3	2428	c.2245G>A	c.(2245-2247)Gtc>Atc	p.V749I	ZBTB21_ENST00000398499.1_Missense_Mutation_p.V749I|ZBTB21_ENST00000398511.3_Missense_Mutation_p.V749I|ZBTB21_ENST00000465968.1_5'UTR|ZBTB21_ENST00000398505.3_Missense_Mutation_p.V548I	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	749					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)										TAAGGGCAGACGGCCGCGTTC	0.552																																						uc002zab.3																			0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2245-2247)GTC>ATC		zinc finger protein 295 isoform L							141.0	161.0	154.0					21																	43411960		2203	4300	6503	SO:0001583	missense	49854				negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|nucleus	methyl-CpG binding|protein binding|zinc ion binding	g.chr21:43411960C>T	AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13083	protein-coding gene	gene with protein product			"""zinc finger protein 295"""	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.2245G>A	21.37:g.43411960C>T	ENSP00000308759:p.Val749Ile					ZNF295_uc002yzz.3_Missense_Mutation_p.V548I|ZNF295_uc002yzy.3_Missense_Mutation_p.V749I|ZNF295_uc002zaa.3_Missense_Mutation_p.V749I	p.V749I	NM_001098402	NP_001091872	Q9ULJ3	ZN295_HUMAN			3	2459	-			749			C2H2-type 4; atypical.		Q5R2W1|Q5R2W2|Q6P4R0	Missense_Mutation	SNP	ENST00000310826.5	37	c.2245G>A	CCDS13678.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.704443	0.48412	.	.	ENSG00000173276	ENST00000398505;ENST00000310826;ENST00000398499;ENST00000398511	T;T;T;T	0.07800	3.29;3.16;3.16;3.16	5.62	4.74	0.60224	Zinc finger, C2H2-like (1);	0.000000	0.64402	D	0.000003	T	0.18635	0.0447	L	0.58101	1.795	0.39487	D	0.967981	D;P	0.62365	0.991;0.939	P;B	0.59288	0.855;0.271	T	0.01734	-1.1285	10	0.37606	T	0.19	-20.3315	10.3045	0.43672	0.0:0.7949:0.1343:0.0708	.	548;749	Q9ULJ3-2;Q9ULJ3	.;ZN295_HUMAN	I	548;749;749;749	ENSP00000381517:V548I;ENSP00000308759:V749I;ENSP00000381512:V749I;ENSP00000381523:V749I	ENSP00000308759:V749I	V	-	1	0	ZNF295	42285029	1.000000	0.71417	0.861000	0.33841	0.864000	0.49448	3.597000	0.54031	1.390000	0.46547	-0.244000	0.11960	GTC		0.552	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	NM_020727	
ELFN2	114794	broad.mit.edu	37	22	37769260	37769260	+	Missense_Mutation	SNP	C	C	T	rs141641460		TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr22:37769260C>T	ENST00000402918.2	-	3	3100	c.2315G>A	c.(2314-2316)cGc>cAc	p.R772H	RP1-63G5.8_ENST00000609322.1_RNA|ELFN2_ENST00000435824.1_5'Flank|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	772					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GGGCCGGAAGCGCTCCCAGAT	0.617																																						uc003asq.3																			0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(2314-2316)CGC>CAC		leucine rich repeat containing 62		C	HIS/ARG	0,4406		0,0,2203	102.0	92.0	96.0		2315	4.6	1.0	22	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ELFN2	NM_052906.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	772/821	37769260	1,13005	2203	4300	6503	SO:0001583	missense	114794					cell surface|integral to membrane		g.chr22:37769260C>T	BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	29396	protein-coding gene	gene with protein product			"""leucine rich repeat containing 62"", ""extracellular leucine-rich repeat and fibronectin type III containing 2"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 2"", ""protein phosphatase 1, regulatory subunit 29"""	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.2315G>A	22.37:g.37769260C>T	ENSP00000385277:p.Arg772His						p.R772H	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN			3	3101	-	Melanoma(58;0.0574)		772			Cytoplasmic (Potential).		Q96PY3	Missense_Mutation	SNP	ENST00000402918.2	37	c.2315G>A	CCDS33642.1	.	.	.	.	.	.	.	.	.	.	C	31	5.059651	0.93846	0.0	1.16E-4	ENSG00000166897	ENST00000349653;ENST00000402918	T;T	0.72394	-0.65;-0.65	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	D	0.82614	0.5075	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85059	0.0933	10	0.87932	D	0	-34.1102	17.8461	0.88730	0.0:1.0:0.0:0.0	.	772	Q5R3F8	PPR29_HUMAN	H	772	ENSP00000300147:R772H;ENSP00000385277:R772H	ENSP00000300147:R772H	R	-	2	0	ELFN2	36099206	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.581000	0.82535	2.265000	0.75225	0.561000	0.74099	CGC		0.617	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906	
TTLL12	23170	broad.mit.edu	37	22	43570225	43570225	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr22:43570225G>A	ENST00000216129.6	-	8	1282	c.1219C>T	c.(1219-1221)Cgg>Tgg	p.R407W	TTLL12_ENST00000484118.1_5'Flank|TTLL12_ENST00000494035.1_5'Flank	NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	407	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)					central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				CACCTTTCCCGCTGCTGGAAG	0.667																																						uc003bdq.2																			0				central_nervous_system(1)	1						c.(1219-1221)CGG>TGG		tubulin tyrosine ligase-like family, member 12							106.0	110.0	109.0					22																	43570225		2200	4291	6491	SO:0001583	missense	23170				protein modification process		tubulin-tyrosine ligase activity	g.chr22:43570225G>A	D63487	CCDS14047.1	22q13.31	2013-02-14	2006-02-02		ENSG00000100304	ENSG00000100304		"""Tubulin tyrosine ligase-like family"""	28974	protein-coding gene	gene with protein product						15890843	Standard	NM_015140		Approved	KIAA0153	uc003bdp.3	Q14166	OTTHUMG00000150682	ENST00000216129.6:c.1219C>T	22.37:g.43570225G>A	ENSP00000216129:p.Arg407Trp					TTLL12_uc003bdr.1_Missense_Mutation_p.R407W	p.R407W	NM_015140	NP_055955	Q14166	TTL12_HUMAN			8	1251	-		Ovarian(80;0.221)|Glioma(61;0.222)	407			TTL.		Q20WK5|Q9UGU3	Missense_Mutation	SNP	ENST00000216129.6	37	c.1219C>T	CCDS14047.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.010481	0.75046	.	.	ENSG00000100304	ENST00000216129;ENST00000423379	T	0.06218	3.33	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.31358	0.0794	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.20240	-1.0281	10	0.72032	D	0.01	-17.4168	12.8244	0.57710	0.079:0.0:0.921:0.0	.	407;407	B1AH89;Q14166	.;TTL12_HUMAN	W	407	ENSP00000216129:R407W	ENSP00000216129:R407W	R	-	1	2	TTLL12	41900169	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	4.524000	0.60552	2.322000	0.78497	0.655000	0.94253	CGG		0.667	TTLL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319611.1	NM_015140	
CNTN6	27255	broad.mit.edu	37	3	1262380	1262380	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr3:1262380T>A	ENST00000446702.2	+	3	692	c.65T>A	c.(64-66)cTt>cAt	p.L22H	CNTN6_ENST00000350110.2_Missense_Mutation_p.L22H|CNTN6_ENST00000539053.1_5'UTR			Q9UQ52	CNTN6_HUMAN	contactin 6	22					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GGTGATGGTCTTTTAAGCCGT	0.333																																						uc003boz.2																			0				skin(3)|lung(2)|breast(2)|pancreas(1)	8						c.(64-66)CTT>CAT		contactin 6 precursor							126.0	120.0	122.0					3																	1262380		2203	4300	6503	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1262380T>A	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.65T>A	3.37:g.1262380T>A	ENSP00000407822:p.Leu22His					CNTN6_uc010hbo.2_Missense_Mutation_p.L17H|CNTN6_uc011asj.1_5'UTR|CNTN6_uc003bpa.2_Missense_Mutation_p.L22H	p.L22H	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	3	332	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	22					Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.65T>A	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	T	12.92	2.081717	0.36758	.	.	ENSG00000134115	ENST00000446702;ENST00000350110	T;T	0.62788	0.0;0.0	5.81	-9.26	0.00662	.	1.661120	0.03204	N	0.175196	T	0.35740	0.0942	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15093	-1.0449	10	0.39692	T	0.17	.	2.5803	0.04816	0.2298:0.3488:0.2933:0.128	.	22	Q9UQ52	CNTN6_HUMAN	H	22	ENSP00000407822:L22H;ENSP00000341882:L22H	ENSP00000341882:L22H	L	+	2	0	CNTN6	1237380	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.715000	0.04997	-2.039000	0.00917	0.533000	0.62120	CTT		0.333	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461	
BBX	56987	broad.mit.edu	37	3	107497367	107497367	+	Splice_Site	SNP	G	G	T			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr3:107497367G>T	ENST00000325805.8	+	13	2490		c.e13+1		BBX_ENST00000416476.2_Splice_Site|BBX_ENST00000473542.1_Splice_Site|BBX_ENST00000415149.2_Splice_Site|BBX_ENST00000402543.1_Splice_Site|BBX_ENST00000406780.1_Splice_Site			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)						bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			ACCAGCAAAGGTTAGGTGTGA	0.428																																						uc010hpr.2																			0				ovary(3)|skin(1)	4						c.e13+1		HMG-BOX transcription factor BBX isoform 1							83.0	77.0	79.0					3																	107497367		2203	4300	6503	SO:0001630	splice_region_variant	56987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr3:107497367G>T	AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.2203+1G>T	3.37:g.107497367G>T						BBX_uc003dwk.3_Splice_Site_p.G735_splice|BBX_uc003dwl.3_Splice_Site_p.K398_splice|BBX_uc003dwm.3_Splice_Site_p.G735_splice|BBX_uc003dwo.3_Splice_Site_p.K84_splice	p.G735_splice	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.112)		13	2530	+								A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Splice_Site	SNP	ENST00000325805.8	37	c.2203_splice	CCDS46881.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.078701	0.76528	.	.	ENSG00000114439	ENST00000415149;ENST00000402543;ENST00000325805;ENST00000416476;ENST00000406780;ENST00000443253	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.327	0.98704	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BBX	108980057	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.240000	0.95396	2.794000	0.96219	0.650000	0.86243	.		0.428	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235	Intron
ZCCHC4	29063	broad.mit.edu	37	4	25366728	25366728	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr4:25366728G>A	ENST00000302874.4	+	12	1370	c.1346G>A	c.(1345-1347)gGt>gAt	p.G449D		NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	449							methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				TTTATTTGTGGTGAACTGGAT	0.398																																						uc003grl.3																			0				ovary(2)	2						c.(1345-1347)GGT>GAT		zinc finger, CCHC domain containing 4							134.0	122.0	126.0					4																	25366728		1917	4129	6046	SO:0001583	missense	29063						methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr4:25366728G>A	AF161537	CCDS43218.1	4p15.31	2014-02-18			ENSG00000168228	ENSG00000168228		"""Zinc fingers, CCHC domain containing"""	22917	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 4"""	611792				11042152	Standard	NM_024936		Approved	HSPC052, FLJ23024, ZGRF4	uc003grl.4	Q9H5U6	OTTHUMG00000160563	ENST00000302874.4:c.1346G>A	4.37:g.25366728G>A	ENSP00000303468:p.Gly449Asp					ZCCHC4_uc003grn.3_Intron	p.G449D	NM_024936	NP_079212	Q9H5U6	ZCHC4_HUMAN			12	1382	+		Breast(46;0.0503)	449			CCHC-type.		B2RXF6|B4DRD8|B7ZW20|Q5IW78|Q96AN7	Missense_Mutation	SNP	ENST00000302874.4	37	c.1346G>A	CCDS43218.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.636291	0.67130	.	.	ENSG00000168228	ENST00000302874	T	0.39592	1.07	5.73	5.73	0.89815	Zinc finger, CCHC-type (1);	0.092890	0.85682	D	0.000000	T	0.61726	0.2370	L	0.53249	1.67	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.57277	-0.7839	10	0.42905	T	0.14	-18.3705	18.6595	0.91468	0.0:0.0:1.0:0.0	.	449	Q9H5U6	ZCHC4_HUMAN	D	449	ENSP00000303468:G449D	ENSP00000303468:G449D	G	+	2	0	ZCCHC4	24975826	1.000000	0.71417	0.994000	0.49952	0.250000	0.25880	5.216000	0.65246	2.720000	0.93068	0.591000	0.81541	GGT		0.398	ZCCHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361151.1		
GABRA4	2557	broad.mit.edu	37	4	46930680	46930680	+	Silent	SNP	A	A	G			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr4:46930680A>G	ENST00000264318.3	-	9	2209	c.1227T>C	c.(1225-1227)caT>caC	p.H409H		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	409					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|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)	ATTTGCTTGAATGGTTTCCCA	0.418																																					Ovarian(6;283 369 8234 12290 33402)	uc003gxg.2																			0				ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4						c.(1225-1227)CAT>CAC		gamma-aminobutyric acid A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						89.0	86.0	87.0					4																	46930680		2203	4300	6503	SO:0001819	synonymous_variant	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46930680A>G		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.1227T>C	4.37:g.46930680A>G							p.H409H	NM_000809	NP_000800	P48169	GBRA4_HUMAN			9	1366	-			409			Cytoplasmic (Probable).		Q8IYR7	Silent	SNP	ENST00000264318.3	37	c.1227T>C	CCDS3473.1																																																																																				0.418	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1		
DCHS2	54798	broad.mit.edu	37	4	155287453	155287453	+	Silent	SNP	G	G	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr4:155287453G>A	ENST00000357232.4	-	5	602	c.603C>T	c.(601-603)gcC>gcT	p.A201A	DCHS2_ENST00000339452.1_Silent_p.A795A	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	201	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CCTGGTCAGTGGCAAGAACAT	0.473																																						uc003inw.2																			0				ovary(3)|pancreas(1)	4						c.(601-603)GCC>GCT		dachsous 2 isoform 1							191.0	158.0	169.0					4																	155287453		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155287453G>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.603C>T	4.37:g.155287453G>A						DCHS2_uc003inx.2_Silent_p.A795A	p.A201A	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	5	603	-	all_hematologic(180;0.208)	Renal(120;0.0854)	201			Cadherin 2.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.603C>T	CCDS3785.1																																																																																				0.473	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	
SLC12A7	10723	broad.mit.edu	37	5	1057736	1057736	+	Missense_Mutation	SNP	G	G	A	rs199620140	byFrequency	TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr5:1057736G>A	ENST00000264930.5	-	22	2919	c.2876C>T	c.(2875-2877)gCg>gTg	p.A959V		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	959					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GGTGTGGGACGCGGTGTTCCT	0.662													G|||	2	0.000399361	0.0	0.0	5008	,	,		12731	0.001		0.001	False		,,,				2504	0.0					uc003jbu.2																			0				skin(2)|large_intestine(1)|ovary(1)	4						c.(2875-2877)GCG>GTG		solute carrier family 12 (potassium/chloride	Potassium Chloride(DB00761)	G	VAL/ALA	0,4406		0,0,2203	90.0	92.0	91.0		2876	3.2	0.0	5		91	1,8597	1.2+/-3.3	0,1,4298	no	missense	SLC12A7	NM_006598.2	64	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign	959/1084	1057736	1,13003	2203	4299	6502	SO:0001583	missense	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1057736G>A	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.2876C>T	5.37:g.1057736G>A	ENSP00000264930:p.Ala959Val						p.A959V	NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		22	2942	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		959			Cytoplasmic (Potential).		A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	c.2876C>T	CCDS34129.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	9.903	1.207353	0.22205	0.0	1.16E-4	ENSG00000113504	ENST00000264930	T	0.44083	0.93	3.23	3.23	0.37069	.	0.471167	0.21963	U	0.066570	T	0.39009	0.1062	M	0.63428	1.95	0.48236	D	0.999619	B	0.25048	0.117	B	0.17433	0.018	T	0.32587	-0.9901	10	0.32370	T	0.25	.	13.3398	0.60538	0.0:0.0:1.0:0.0	.	959	Q9Y666	S12A7_HUMAN	V	959	ENSP00000264930:A959V	ENSP00000264930:A959V	A	-	2	0	SLC12A7	1110736	0.977000	0.34250	0.013000	0.15412	0.023000	0.10783	6.562000	0.73960	1.532000	0.49169	0.313000	0.20887	GCG		0.662	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598	
DNAH5	1767	broad.mit.edu	37	5	13865969	13865969	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr5:13865969C>T	ENST00000265104.4	-	27	4267	c.4163G>A	c.(4162-4164)gGa>gAa	p.G1388E	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1388	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAGCTCCTCTCCTCCAGTATA	0.328									Kartagener syndrome																													uc003jfd.2																			0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(4162-4164)GGA>GAA		dynein, axonemal, heavy chain 5							53.0	58.0	56.0					5																	13865969		2202	4298	6500	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13865969C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.4163G>A	5.37:g.13865969C>T	ENSP00000265104:p.Gly1388Glu						p.G1388E	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			27	4205	-	Lung NSC(4;0.00476)		1388			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.4163G>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	33	5.246717	0.95305	.	.	ENSG00000039139	ENST00000265104	T	0.22743	1.94	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.62048	0.2396	H	0.94385	3.53	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71347	-0.4620	10	0.87932	D	0	.	20.5605	0.99326	0.0:1.0:0.0:0.0	.	1388	Q8TE73	DYH5_HUMAN	E	1388	ENSP00000265104:G1388E	ENSP00000265104:G1388E	G	-	2	0	DNAH5	13918969	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.811000	0.86092	2.868000	0.98415	0.637000	0.83480	GGA		0.328	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
ADAMTS12	81792	broad.mit.edu	37	5	33576987	33576987	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr5:33576987G>C	ENST00000504830.1	-	19	3479	c.3144C>G	c.(3142-3144)atC>atG	p.I1048M	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.I963M|ADAMTS12_ENST00000504582.1_5'Flank	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1048	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TAGGGCTGCTGATTGCTGGAG	0.562										HNSCC(64;0.19)																												uc003jia.1																			0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(3142-3144)ATC>ATG		ADAM metallopeptidase with thrombospondin type 1							138.0	133.0	134.0					5																	33576987		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33576987G>C	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3144C>G	5.37:g.33576987G>C	ENSP00000422554:p.Ile1048Met	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.I963M	p.I1048M	NM_030955	NP_112217	P58397	ATS12_HUMAN			19	3307	-			1048			Spacer 2.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.3144C>G	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	4.330	0.060647	0.08339	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.59224	0.29;0.28	5.08	0.813	0.18749	.	1.154630	0.05997	N	0.647026	T	0.37489	0.1005	N	0.14661	0.345	0.09310	N	1	B;B	0.12013	0.005;0.003	B;B	0.14023	0.01;0.003	T	0.26189	-1.0110	10	0.44086	T	0.13	.	3.5811	0.07954	0.1637:0.1259:0.5639:0.1465	.	963;1048	P58397-3;P58397	.;ATS12_HUMAN	M	1048;963	ENSP00000422554:I1048M;ENSP00000344847:I963M	ENSP00000344847:I963M	I	-	3	3	ADAMTS12	33612744	0.000000	0.05858	0.000000	0.03702	0.312000	0.27988	0.658000	0.24979	0.268000	0.21939	0.655000	0.94253	ATC		0.562	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955	
NIM1K	167359	broad.mit.edu	37	5	43280335	43280335	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr5:43280335G>A	ENST00000512796.1	+	4	2314	c.815G>A	c.(814-816)cGg>cAg	p.R272Q	NIM1_ENST00000326035.2_Missense_Mutation_p.R272Q			Q8IY84	NIM1_HUMAN		272	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)										ATGCCATTTCGGGCAGAAACC	0.557																																						uc003jno.2																			0				lung(4)|ovary(2)|stomach(1)|large_intestine(1)|breast(1)	9						c.(814-816)CGG>CAG		serine/threonine-protein kinase NIM1							87.0	72.0	77.0					5																	43280335		2203	4300	6503	SO:0001583	missense	167359						ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:43280335G>A																												ENST00000512796.1:c.815G>A	5.37:g.43280335G>A	ENSP00000420849:p.Arg272Gln						p.R272Q	NM_153361	NP_699192	Q8IY84	NIM1_HUMAN			4	1696	+			272			Protein kinase.		B3KVM1	Missense_Mutation	SNP	ENST00000512796.1	37	c.815G>A	CCDS3943.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883165	0.91740	.	.	ENSG00000177453	ENST00000326035;ENST00000512796	T;T	0.64618	-0.11;-0.11	5.73	4.85	0.62838	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.65964	0.2742	L	0.34521	1.04	0.80722	D	1	D	0.53312	0.959	P	0.55713	0.782	T	0.70132	-0.4956	10	0.72032	D	0.01	.	16.0663	0.80878	0.0:0.0:0.8648:0.1352	.	272	Q8IY84	NIM1_HUMAN	Q	272	ENSP00000313572:R272Q;ENSP00000420849:R272Q	ENSP00000313572:R272Q	R	+	2	0	AC114947.1	43316092	1.000000	0.71417	0.992000	0.48379	0.910000	0.53928	9.869000	0.99810	1.414000	0.47017	0.655000	0.94253	CGG		0.557	NIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368017.1		
PIK3R1	5295	broad.mit.edu	37	5	67591135	67591136	+	Frame_Shift_Ins	INS	-	-	A	rs149090706	byFrequency	TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr5:67591135_67591136insA	ENST00000521381.1	+	13	2344_2345	c.1728_1729insA	c.(1729-1731)agafs	p.R577fs	PIK3R1_ENST00000396611.1_Frame_Shift_Ins_p.R577fs|PIK3R1_ENST00000274335.5_Frame_Shift_Ins_p.R577fs|PIK3R1_ENST00000336483.5_Frame_Shift_Ins_p.R307fs|PIK3R1_ENST00000523872.1_Frame_Shift_Ins_p.R214fs|PIK3R1_ENST00000320694.8_Frame_Shift_Ins_p.R277fs|PIK3R1_ENST00000521657.1_Frame_Shift_Ins_p.R577fs	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	577					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.T576del(3)|p.L570_D578del(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	TGAGAAAGACGAGAGACCAATA	0.371			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												uc003jva.2				Rec	yes		5	5q13.1	5295	Mis|F|O	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			gliobastoma|ovarian|colorectal		6	Deletion - In frame(2)|Deletion - Frameshift(2)|Whole gene deletion(1)|Unknown(1)	p.T576del(3)|p.R574_T576del(2)|p.L570_D578del(1)|p.?(1)	central_nervous_system(3)|large_intestine(1)|lung(1)|ovary(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101						c.(1726-1731)ACGAGAfs		phosphoinositide-3-kinase, regulatory subunit 1	Isoproterenol(DB01064)																																			SO:0001589	frameshift_variant	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67591135_67591136insA	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1729dupA	5.37:g.67591136_67591136dupA	ENSP00000428056:p.Arg577fs	TCGA GBM(4;<1E-08)				PIK3R1_uc003jvb.2_Frame_Shift_Ins_p.T576fs|PIK3R1_uc003jvc.2_Frame_Shift_Ins_p.T276fs|PIK3R1_uc003jvd.2_Frame_Shift_Ins_p.T306fs|PIK3R1_uc003jve.2_Frame_Shift_Ins_p.T255fs|PIK3R1_uc011crb.1_Frame_Shift_Ins_p.T246fs	p.T576fs	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	13	2288_2289	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	576_577					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Frame_Shift_Ins	INS	ENST00000521381.1	37	c.1728_1729insA	CCDS3993.1																																																																																				0.371	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504	
SPINK9	643394	broad.mit.edu	37	5	147715209	147715209	+	Silent	SNP	T	T	C			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr5:147715209T>C	ENST00000377906.1	+	1	88	c.33T>C	c.(31-33)gcT>gcC	p.A11A	SPINK9_ENST00000511717.2_Intron|RP11-373N22.3_ENST00000501695.3_RNA	NM_001040433.1	NP_001035523.1	Q5DT21	ISK9_HUMAN	serine peptidase inhibitor, Kazal type 9	11					negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			ovary(1)|urinary_tract(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACTCTTGGCTCTGACACTTG	0.473																																						uc003lpe.1																			0					0						c.(31-33)GCT>GCC		serine peptidase inhibitor, Kazal type 9							245.0	197.0	213.0					5																	147715209		2203	4300	6503	SO:0001819	synonymous_variant	643394					extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr5:147715209T>C	AY396740	CCDS34269.1	5q33.1	2011-08-31				ENSG00000204909		"""Serine peptidase inhibitors, Kazal type"""	32951	protein-coding gene	gene with protein product		613511					Standard	NM_001040433		Approved		uc003lpe.1	Q5DT21		ENST00000377906.1:c.33T>C	5.37:g.147715209T>C						uc003lpb.1_Intron	p.A11A	NM_001040433	NP_001035523	Q5DT21	ISK9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	88	+			11					B2RPN9	Silent	SNP	ENST00000377906.1	37	c.33T>C	CCDS34269.1																																																																																				0.473	SPINK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373382.1	NM_001040433	
HIST1H2BE	8344	broad.mit.edu	37	6	26184184	26184184	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr6:26184184G>A	ENST00000356530.3	+	1	227	c.161G>A	c.(160-162)gGc>gAc	p.G54D		NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN	histone cluster 1, H2be	54					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(1)	4						CCCGACACCGGCATCTCCTCT	0.577																																						uc003ngt.2																			0					0						c.(160-162)GGC>GAC		histone cluster 1, H2be							167.0	155.0	159.0					6																	26184184		2203	4300	6503	SO:0001583	missense	8344				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26184184G>A	Z80780	CCDS4588.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197697	ENSG00000274290		"""Histones / Replication-dependent"""	4753	protein-coding gene	gene with protein product		602805	"""H2B histone family, member H"", ""histone 1, H2be"""	H2BFH		9119399, 12408966	Standard	NM_003523		Approved	H2B/h, H2B.h	uc003ngt.3	P62807	OTTHUMG00000014427	ENST00000356530.3:c.161G>A	6.37:g.26184184G>A	ENSP00000348924:p.Gly54Asp						p.G54D	NM_003523	NP_003514	P62807	H2B1C_HUMAN			1	161	+			54					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000356530.3	37	c.161G>A	CCDS4588.1	.	.	.	.	.	.	.	.	.	.	.	15.57	2.873960	0.51695	.	.	ENSG00000197697	ENST00000356530	T	0.69435	-0.4	4.96	4.96	0.65561	.	0.000000	0.34700	U	0.003742	T	0.73442	0.3587	.	.	.	0.47153	D	0.999335	.	.	.	.	.	.	T	0.77498	-0.2565	7	0.87932	D	0	.	14.8694	0.70444	0.0:0.1441:0.8559:0.0	.	.	.	.	D	54	ENSP00000348924:G54D	ENSP00000348924:G54D	G	+	2	0	HIST1H2BE	26292163	1.000000	0.71417	0.888000	0.34837	0.004000	0.04260	5.400000	0.66320	2.479000	0.83701	0.537000	0.68136	GGC		0.577	HIST1H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040090.1	NM_003523	
USP49	25862	broad.mit.edu	37	6	41774357	41774357	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr6:41774357G>A	ENST00000394253.3	-	3	694	c.365C>T	c.(364-366)tCg>tTg	p.S122L	USP49_ENST00000373009.3_Missense_Mutation_p.S122L|USP49_ENST00000373010.1_Missense_Mutation_p.S122L|USP49_ENST00000297229.2_Missense_Mutation_p.S122L|USP49_ENST00000373006.1_Missense_Mutation_p.S122L			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	122					histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GTCCTCACCCGAAGCCATGGA	0.692																																						uc003ori.2																			0				ovary(1)|central_nervous_system(1)	2						c.(364-366)TCG>TTG		ubiquitin thioesterase 49							29.0	31.0	30.0					6																	41774357		2203	4299	6502	SO:0001583	missense	25862				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:41774357G>A	AJ586139	CCDS4861.1, CCDS69111.1	6p12.1	2008-02-05	2005-08-08		ENSG00000164663	ENSG00000164663		"""Ubiquitin-specific peptidases"""	20078	protein-coding gene	gene with protein product			"""ubiquitin specific protease 49"""			14715245	Standard	NM_018561		Approved	MGC20741	uc003ori.3	Q70CQ1	OTTHUMG00000014688	ENST00000394253.3:c.365C>T	6.37:g.41774357G>A	ENSP00000377797:p.Ser122Leu						p.S122L	NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		4	587	-	Ovarian(28;0.0919)|Colorectal(47;0.121)		122					Q5T3D9|Q5T3E0|Q96CK4	Missense_Mutation	SNP	ENST00000394253.3	37	c.365C>T		.	.	.	.	.	.	.	.	.	.	G	4.550	0.102213	0.08731	.	.	ENSG00000164663	ENST00000394253;ENST00000373010;ENST00000373009;ENST00000373006;ENST00000297229	T;T;T;T;T	0.06849	3.74;3.25;3.74;3.52;3.52	4.6	3.74	0.42951	.	0.827722	0.11114	N	0.598197	T	0.01695	0.0054	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.46428	-0.9192	10	0.18710	T	0.47	0.5371	8.0459	0.30549	0.2343:0.0:0.7656:0.0	.	122	Q70CQ1-2	.	L	122	ENSP00000377797:S122L;ENSP00000362101:S122L;ENSP00000362100:S122L;ENSP00000362097:S122L;ENSP00000297229:S122L	ENSP00000297229:S122L	S	-	2	0	USP49	41882335	0.004000	0.15560	0.136000	0.22124	0.460000	0.32559	1.665000	0.37449	1.157000	0.42530	-0.136000	0.14681	TCG		0.692	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000316513.3	NM_018561	
ABCB5	340273	broad.mit.edu	37	7	20778686	20778686	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr7:20778686C>T	ENST00000404938.2	+	24	3600	c.2948C>T	c.(2947-2949)tCg>tTg	p.S983L	ABCB5_ENST00000258738.6_Missense_Mutation_p.S538L	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	983					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AAAGCCAAATCGGGGGCTGCG	0.423																																						uc003suw.3																			0				skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						c.(1612-1614)TCG>TTG		ATP-binding cassette, sub-family B, member 5							54.0	52.0	53.0					7																	20778686		2203	4300	6503	SO:0001583	missense	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20778686C>T	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.2948C>T	7.37:g.20778686C>T	ENSP00000384881:p.Ser983Leu					ABCB5_uc010kuh.2_Missense_Mutation_p.S983L	p.S538L	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN			15	2159	+			538			Cytoplasmic (Potential).		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	c.1613C>T	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.608032	0.28623	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	T;T	0.70516	-0.49;-0.49	4.99	4.99	0.66335	ABC transporter, transmembrane domain, type 1 (1);	0.096182	0.43747	D	0.000539	T	0.59074	0.2167	L	0.35288	1.05	0.31767	N	0.632641	B;B	0.12013	0.002;0.005	B;B	0.06405	0.001;0.002	T	0.55704	-0.8099	10	0.15499	T	0.54	.	16.1633	0.81734	0.0:1.0:0.0:0.0	.	983;538	A7BKA4;Q2M3G0	.;ABCB5_HUMAN	L	983;538	ENSP00000384881:S983L;ENSP00000258738:S538L	ENSP00000258738:S538L	S	+	2	0	ABCB5	20745211	0.011000	0.17503	0.998000	0.56505	0.843000	0.47879	0.397000	0.20883	2.774000	0.95407	0.484000	0.47621	TCG		0.423	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559	
TRGV8	6982	broad.mit.edu	37	7	38370110	38370110	+	RNA	SNP	T	T	G			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr7:38370110T>G	ENST00000390343.2	-	0	301				RP11-121A8.1_ENST00000609522.1_lincRNA					T cell receptor gamma variable 8																		CAGAAGACGCTGTGGGGCCTT	0.493																																						uc010kxj.1																			0											c.(187-189)CAG>CCG		SubName: Full=Putative uncharacterized protein ENSP00000374866;							100.0	97.0	98.0					7																	38370110		1916	4127	6043			0							g.chr7:38370110T>G	M13434		7p14	2012-02-07			ENSG00000211696	ENSG00000211696		"""T cell receptors / TRG locus"""	12294	other	T cell receptor gene	"""T-cell receptor, gamma, variable region V8"""			TCRGV8			Standard	NG_001336		Approved	V1S8			OTTHUMG00000155098		7.37:g.38370110T>G						uc010kxk.1_RNA	p.Q63P							2	324	-									Missense_Mutation	SNP	ENST00000390343.2	37	c.188A>C																																																																																					0.493	TRGV8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000338399.4	NG_001336	
CDK13	8621	broad.mit.edu	37	7	40132440	40132442	+	In_Frame_Del	DEL	CTA	CTA	-	rs374077162		TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr7:40132440_40132442delCTA	ENST00000181839.4	+	13	3897_3899	c.3292_3294delCTA	c.(3292-3294)ctadel	p.L1099del	CDK13_ENST00000340829.5_Intron	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1099					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						TCTACTAAACCTACTACAATCTA	0.335																																						uc003thh.3																			0				lung(2)|skin(2)|ovary(1)	5						c.(3292-3294)CTAdel		cell division cycle 2-like 5 isoform 1																																				SO:0001651	inframe_deletion	8621				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr7:40132440_40132442delCTA	M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.3292_3294delCTA	7.37:g.40132443_40132445delCTA	ENSP00000181839:p.Leu1099del					CDK13_uc003thi.3_Intron|CDK13_uc003thj.2_In_Frame_Del_p.L150del|CDK13_uc003thk.2_In_Frame_Del_p.L32del	p.L1099del	NM_003718	NP_003709	Q14004	CDK13_HUMAN			13	3574_3576	+			1099					Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	In_Frame_Del	DEL	ENST00000181839.4	37	c.3292_3294delCTA	CCDS5461.1																																																																																				0.335	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718	
CDK13	8621	broad.mit.edu	37	7	40132451	40132451	+	Silent	SNP	T	T	G			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr7:40132451T>G	ENST00000181839.4	+	13	3908	c.3303T>G	c.(3301-3303)tcT>tcG	p.S1101S	CDK13_ENST00000340829.5_Intron	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1101					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						TACTACAATCTAAAACAAGTG	0.343																																						uc003thh.3																			0				lung(2)|skin(2)|ovary(1)	5						c.(3301-3303)TCT>TCG		cell division cycle 2-like 5 isoform 1							75.0	82.0	80.0					7																	40132451		2203	4300	6503	SO:0001819	synonymous_variant	8621				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr7:40132451T>G	M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.3303T>G	7.37:g.40132451T>G						CDK13_uc003thi.3_Intron|CDK13_uc003thj.2_Silent_p.S152S|CDK13_uc003thk.2_Silent_p.S34S	p.S1101S	NM_003718	NP_003709	Q14004	CDK13_HUMAN			13	3585	+			1101					Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Silent	SNP	ENST00000181839.4	37	c.3303T>G	CCDS5461.1																																																																																				0.343	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718	
COBL	23242	broad.mit.edu	37	7	51111289	51111289	+	Silent	SNP	C	C	T			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr7:51111289C>T	ENST00000265136.7	-	8	1362	c.1197G>A	c.(1195-1197)gcG>gcA	p.A399A	COBL_ENST00000395542.2_Silent_p.A481A	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	399					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TGTCCTCCGACGCAAAACAGC	0.607																																					NSCLC(189;2119 2138 12223 30818 34679)	uc003tpr.3																			0				skin(3)|ovary(2)	5						c.(1195-1197)GCG>GCA		cordon-bleu homolog							101.0	83.0	89.0					7																	51111289		2203	4300	6503	SO:0001819	synonymous_variant	23242							g.chr7:51111289C>T	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.1197G>A	7.37:g.51111289C>T						COBL_uc003tps.2_Silent_p.A456A|COBL_uc011kcl.1_Silent_p.A399A|COBL_uc010kzc.2_Silent_p.A399A|COBL_uc003tpp.3_Silent_p.A185A|COBL_uc003tpq.3_Silent_p.A340A	p.A399A	NM_015198	NP_056013	O75128	COBL_HUMAN			8	1382	-	Glioma(55;0.08)		399					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Silent	SNP	ENST00000265136.7	37	c.1197G>A	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	C	0.179	-1.064484	0.01934	.	.	ENSG00000106078	ENST00000452534	.	.	.	5.42	-10.8	0.00216	.	.	.	.	.	T	0.19446	0.0467	.	.	.	0.24316	N	0.995064	.	.	.	.	.	.	T	0.35276	-0.9795	4	.	.	.	.	3.7428	0.08537	0.1335:0.1771:0.4089:0.2804	.	.	.	.	I	375	.	.	V	-	1	0	COBL	51078783	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-4.806000	0.00183	-6.320000	0.00005	-0.736000	0.03550	GTC		0.607	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198	
PCLO	27445	broad.mit.edu	37	7	82595145	82595146	+	Frame_Shift_Ins	INS	-	-	G			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr7:82595145_82595146insG	ENST00000333891.9	-	4	4295_4296	c.3958_3959insC	c.(3958-3960)cagfs	p.Q1320fs	PCLO_ENST00000423517.2_Frame_Shift_Ins_p.Q1320fs	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						TGGCTGTGGCTGTTCTTTTATT	0.406																																						uc003uhx.2																			0				ovary(7)	7						c.(3958-3960)CAGfs		piccolo isoform 1																																				SO:0001589	frameshift_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82595145_82595146insG	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.3959dupC	7.37:g.82595146_82595146dupG	ENSP00000334319:p.Gln1320fs					PCLO_uc003uhv.2_Frame_Shift_Ins_p.Q1320fs	p.Q1320fs	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			4	4247_4248	-			1259						Frame_Shift_Ins	INS	ENST00000333891.9	37	c.3958_3959insC	CCDS47630.1																																																																																				0.406	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
PIK3CG	5294	broad.mit.edu	37	7	106508499	106508499	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr7:106508499G>A	ENST00000359195.3	+	2	803	c.493G>A	c.(493-495)Gtc>Atc	p.V165I	PIK3CG_ENST00000440650.2_Missense_Mutation_p.V165I|PIK3CG_ENST00000496166.1_Missense_Mutation_p.V165I	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	165					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V165I(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CGTCACTGACGTCAGCAACGT	0.677																																						uc003vdv.3																			1	Substitution - Missense(1)		lung(1)	lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						c.(493-495)GTC>ATC		phosphoinositide-3-kinase, catalytic, gamma							26.0	30.0	29.0					7																	106508499		2203	4298	6501	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106508499G>A		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.493G>A	7.37:g.106508499G>A	ENSP00000352121:p.Val165Ile					PIK3CG_uc003vdu.2_Missense_Mutation_p.V165I|PIK3CG_uc003vdw.2_Missense_Mutation_p.V165I	p.V165I	NM_002649	NP_002640	P48736	PK3CG_HUMAN			2	578	+			165					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.493G>A	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	G	4.083	0.013387	0.07912	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.69806	-0.43;-0.43;-0.43	5.33	0.191	0.15130	.	0.300922	0.35495	N	0.003175	T	0.47673	0.1458	L	0.31926	0.97	0.40876	D	0.983954	B	0.09022	0.002	B	0.01281	0.0	T	0.17868	-1.0355	10	0.26408	T	0.33	-14.8927	6.8854	0.24197	0.3409:0.1146:0.5445:0.0	.	165	P48736	PK3CG_HUMAN	I	165	ENSP00000392258:V165I;ENSP00000419260:V165I;ENSP00000352121:V165I	ENSP00000352121:V165I	V	+	1	0	PIK3CG	106295735	0.997000	0.39634	0.973000	0.42090	0.934000	0.57294	1.890000	0.39728	0.039000	0.15632	0.467000	0.42956	GTC		0.677	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1		
CADPS2	93664	broad.mit.edu	37	7	122261662	122261662	+	Missense_Mutation	SNP	G	G	A	rs372372999		TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr7:122261662G>A	ENST00000449022.2	-	5	996	c.977C>T	c.(976-978)tCg>tTg	p.S326L	CADPS2_ENST00000313070.7_Missense_Mutation_p.S326L|CADPS2_ENST00000412584.2_Missense_Mutation_p.S326L|CADPS2_ENST00000334010.7_Missense_Mutation_p.S326L	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	326					cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						ACCACCTTTCGAAACTGGAAG	0.363																																						uc010lkp.2																			0				ovary(1)|central_nervous_system(1)	2						c.(976-978)TCG>TTG		Ca2+-dependent activator protein for secretion 2		G	LEU/SER,LEU/SER,LEU/SER	0,3606		0,0,1803	87.0	85.0	85.0		977,977,977	5.6	1.0	7		85	2,8142		0,2,4070	no	missense,missense,missense	CADPS2	NM_001009571.3,NM_001167940.1,NM_017954.10	145,145,145	0,2,5873	AA,AG,GG		0.0246,0.0,0.017	benign,benign,benign	326/1256,326/1301,326/1297	122261662	2,11748	1803	4072	5875	SO:0001583	missense	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:122261662G>A		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.977C>T	7.37:g.122261662G>A	ENSP00000398481:p.Ser326Leu					CADPS2_uc003vkg.3_Missense_Mutation_p.S26L|CADPS2_uc010lkq.2_Missense_Mutation_p.S326L	p.S326L	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN			5	1140	-			326					A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	ENST00000449022.2	37	c.977C>T	CCDS55158.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091557	0.76756	0.0	2.46E-4	ENSG00000081803	ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	5.6	5.6	0.85130	.	0.119810	0.56097	D	0.000022	T	0.62245	0.2412	M	0.62016	1.91	0.80722	D	1	D;D;P	0.62365	0.991;0.957;0.655	P;B;B	0.55545	0.778;0.17;0.093	T	0.60974	-0.7156	10	0.45353	T	0.12	-9.3227	19.6159	0.95633	0.0:0.0:1.0:0.0	.	326;326;326	Q86UW7-2;Q86UW7;Q86UW7-3	.;CAPS2_HUMAN;.	L	326;326;326;293;326;326	ENSP00000325581:S326L;ENSP00000333940:S326L;ENSP00000400401:S326L;ENSP00000398481:S326L	ENSP00000325581:S326L	S	-	2	0	CADPS2	122048898	1.000000	0.71417	0.972000	0.41901	0.839000	0.47603	9.869000	0.99810	2.644000	0.89710	0.467000	0.42956	TCG		0.363	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954	
FGF20	26281	broad.mit.edu	37	8	16850701	16850701	+	Silent	SNP	G	G	A	rs376980441		TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr8:16850701G>A	ENST00000180166.5	-	3	664	c.516C>T	c.(514-516)gaC>gaT	p.D172D		NM_019851.2	NP_062825.1	Q9NP95	FGF20_HUMAN	fibroblast growth factor 20	172					cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of cardiac muscle cell proliferation (GO:0060043)|signal transduction (GO:0007165)	extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	11				Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TTGGAGTTCCGTCTTTGTTAA	0.428																																						uc003wxc.1																			0				lung(1)	1						c.(514-516)GAC>GAT		fibroblast growth factor 20		G		1,4405	2.1+/-5.4	0,1,2202	182.0	162.0	169.0		516	-2.2	1.0	8		169	0,8600		0,0,4300	no	coding-synonymous	FGF20	NM_019851.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		172/212	16850701	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	26281				cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	extracellular region|soluble fraction	growth factor activity	g.chr8:16850701G>A	AB030648	CCDS5998.1	8p22	2008-05-15			ENSG00000078579	ENSG00000078579			3677	protein-coding gene	gene with protein product		605558				10913340	Standard	NM_019851		Approved		uc003wxc.1	Q9NP95	OTTHUMG00000096964	ENST00000180166.5:c.516C>T	8.37:g.16850701G>A						FGF20_uc010lsv.1_RNA|FGF20_uc010lsw.1_3'UTR	p.D172D	NM_019851	NP_062825	Q9NP95	FGF20_HUMAN		Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	3	649	-			172					B2RPH5	Silent	SNP	ENST00000180166.5	37	c.516C>T	CCDS5998.1	.	.	.	.	.	.	.	.	.	.	G	6.030	0.373895	0.11409	2.27E-4	0.0	ENSG00000078579	ENST00000519941	.	.	.	5.85	-2.23	0.06930	.	.	.	.	.	T	0.62913	0.2467	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59799	-0.7386	4	.	.	.	.	12.901	0.58125	0.5672:0.0:0.4328:0.0	.	.	.	.	W	74	.	.	R	-	1	2	FGF20	16895072	0.614000	0.27017	0.979000	0.43373	0.791000	0.44710	0.002000	0.13061	-0.536000	0.06298	-0.302000	0.09304	CGG		0.428	FGF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214030.1		
KCNV1	27012	broad.mit.edu	37	8	110984912	110984912	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr8:110984912C>T	ENST00000524391.1	-	3	1598	c.566G>A	c.(565-567)tGt>tAt	p.C189Y	RP11-696P8.2_ENST00000530667.1_RNA|KCNV1_ENST00000297404.1_Missense_Mutation_p.C189Y			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	189					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			AACAGTGGGACAAGGTCCTTG	0.483																																						uc003ynr.3																			0				lung(1)|kidney(1)	2						c.(565-567)TGT>TAT		potassium channel, subfamily V, member 1							125.0	118.0	120.0					8																	110984912		2203	4300	6503	SO:0001583	missense	27012					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr8:110984912C>T	AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.566G>A	8.37:g.110984912C>T	ENSP00000435954:p.Cys189Tyr					KCNV1_uc010mcw.2_Missense_Mutation_p.C189Y	p.C189Y	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)		2	908	-	all_neural(195;0.219)		189			Cytoplasmic (Potential).		Q9UHJ4	Missense_Mutation	SNP	ENST00000524391.1	37	c.566G>A	CCDS6314.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.906567	0.52333	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	D;D	0.97553	-4.43;-4.43	5.35	5.35	0.76521	.	0.056799	0.64402	D	0.000001	D	0.95573	0.8561	L	0.45137	1.4	0.51767	D	0.999939	D	0.61080	0.989	P	0.50708	0.648	D	0.93718	0.7030	10	0.02654	T	1	.	18.0477	0.89337	0.0:1.0:0.0:0.0	.	189	Q6PIU1	KCNV1_HUMAN	Y	189;189;65	ENSP00000435954:C189Y;ENSP00000297404:C189Y	ENSP00000297404:C189Y	C	-	2	0	KCNV1	111054088	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.179000	0.77665	2.499000	0.84300	0.557000	0.71058	TGT		0.483	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385525.1	NM_014379	
SLURP1	57152	broad.mit.edu	37	8	143823793	143823793	+	Missense_Mutation	SNP	C	C	T	rs377400398		TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr8:143823793C>T	ENST00000246515.1	-	1	36	c.11G>A	c.(10-12)cGc>cAc	p.R4H		NM_020427.2	NP_065160.1	P55000	SLUR1_HUMAN	secreted LY6/PLAUR domain containing 1	4					cell activation (GO:0001775)|cell adhesion (GO:0007155)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)			breast(1)|lung(7)|ovary(1)	9	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CACAGCCCAGCGAGAGGCCAT	0.642																																						uc003ywy.2																			0					0						c.(10-12)CGC>CAC		ARS component B precursor		C	HIS/ARG	2,4398	4.2+/-10.8	0,2,2198	44.0	44.0	44.0		11	-1.7	0.0	8		44	0,8598		0,0,4299	no	missense	SLURP1	NM_020427.2	29	0,2,6497	TT,TC,CC		0.0,0.0455,0.0154	probably-damaging	4/104	143823793	2,12996	2200	4299	6499	SO:0001583	missense	57152				cell activation|cell adhesion	extracellular space	cytokine activity	g.chr8:143823793C>T	AY579080	CCDS6387.1	8q24.3	2004-11-16			ENSG00000126233	ENSG00000126233			18746	protein-coding gene	gene with protein product	"""lymphocyte antigen 6-like secreted"", ""ARS component B"""	606119				11285253, 10211827	Standard	NM_020427		Approved	ARS, ANUP, MDM, ArsB, LY6LS	uc003ywy.3	P55000	OTTHUMG00000164685	ENST00000246515.1:c.11G>A	8.37:g.143823793C>T	ENSP00000246515:p.Arg4His						p.R4H	NM_020427	NP_065160	P55000	SLUR1_HUMAN			1	37	-	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		4					Q53YJ6|Q6PUA6|Q92483	Missense_Mutation	SNP	ENST00000246515.1	37	c.11G>A	CCDS6387.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.379174	0.42207	4.55E-4	0.0	ENSG00000126233	ENST00000246515	D	0.83673	-1.75	2.59	-1.73	0.08081	.	1.320020	0.06116	N	0.668053	T	0.76933	0.4057	L	0.60455	1.87	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.59332	-0.7474	10	0.49607	T	0.09	-1.0561	4.1918	0.10424	0.0:0.2966:0.4342:0.2691	.	4	P55000	SLUR1_HUMAN	H	4	ENSP00000246515:R4H	ENSP00000246515:R4H	R	-	2	0	SLURP1	143820795	0.000000	0.05858	0.019000	0.16419	0.515000	0.34225	-2.169000	0.01269	-0.470000	0.06901	0.561000	0.74099	CGC		0.642	SLURP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379741.1	NM_020427	
HIATL2	84278	broad.mit.edu	37	9	99735156	99735156	+	Silent	SNP	A	A	C	rs2479231		TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr9:99735156A>C	ENST00000375223.4	-	2	396	c.183T>G	c.(181-183)ctT>ctG	p.L61L	HIATL2_ENST00000602917.1_Silent_p.L61L			Q5VZR4	HIAL2_HUMAN	hippocampus abundant transcript-like 2	61					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.L61L(1)									GAGTTGTCAAAAGGCCCCACG	0.388																																						uc004aws.2																			1	Substitution - coding silent(1)		endometrium(1)		0						c.(181-183)CTT>CTG		RecName: Full=Hippocampus abundant transcript-like protein 2;																																				SO:0001819	synonymous_variant	84278							g.chr9:99735156A>C	BC005058		9q22.33	2008-09-12	2008-09-12		ENSG00000196312	ENSG00000196312			23672	protein-coding gene	gene with protein product						12477932	Standard	NR_002894		Approved	MGC12945	uc004aws.3	Q5VZR4	OTTHUMG00000020317	ENST00000375223.4:c.183T>G	9.37:g.99735156A>C						HIATL2_uc004awr.1_RNA	p.L61L	NR_002894						2	397	-								Q9BSG7	Silent	SNP	ENST00000375223.4	37	c.183T>G																																																																																					0.388	HIATL2-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032318	
OR1Q1	158131	broad.mit.edu	37	9	125377107	125377107	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr9:125377107T>G	ENST00000297913.2	+	1	160	c.91T>G	c.(91-93)Ttc>Gtc	p.F31V	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	31					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						CTTCCTTGTTTTCTCACTCAT	0.483																																						uc011lyy.1																			0				ovary(1)	1						c.(91-93)TTC>GTC		olfactory receptor, family 1, subfamily Q,							227.0	207.0	214.0					9																	125377107		2203	4300	6503	SO:0001583	missense	158131				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125377107T>G		CCDS35125.1	9q33.2	2013-09-20			ENSG00000165202	ENSG00000165202		"""GPCR / Class A : Olfactory receptors"""	8223	protein-coding gene	gene with protein product				OR1Q2, OR1Q3			Standard	NM_012364		Approved	OST226, OR9-A, HSTPCR106, OST226OR9-A, TPCR106	uc011lyy.2	Q15612	OTTHUMG00000020615	ENST00000297913.2:c.91T>G	9.37:g.125377107T>G	ENSP00000297913:p.Phe31Val						p.F31V	NM_012364	NP_036496	Q15612	OR1Q1_HUMAN			1	91	+			31			Helical; Name=1; (Potential).		Q6IFN4|Q8NGR7|Q96R82	Missense_Mutation	SNP	ENST00000297913.2	37	c.91T>G	CCDS35125.1	.	.	.	.	.	.	.	.	.	.	T	16.64	3.180861	0.57800	.	.	ENSG00000165202	ENST00000297913	T	0.04551	3.6	5.43	5.43	0.79202	.	0.000000	0.50627	D	0.000111	T	0.14787	0.0357	M	0.77486	2.375	0.40209	D	0.9776	D	0.58620	0.983	P	0.51016	0.656	T	0.00555	-1.1673	10	0.87932	D	0	-8.0041	14.609	0.68501	0.0:0.0:0.0:1.0	.	31	Q15612	OR1Q1_HUMAN	V	31	ENSP00000297913:F31V	ENSP00000297913:F31V	F	+	1	0	OR1Q1	124416928	1.000000	0.71417	0.093000	0.20910	0.329000	0.28539	5.472000	0.66768	2.280000	0.76307	0.533000	0.62120	TTC		0.483	OR1Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053946.1		
NTNG2	84628	broad.mit.edu	37	9	135073896	135073896	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chr9:135073896C>T	ENST00000393229.3	+	3	1533	c.757C>T	c.(757-759)Cgc>Tgc	p.R253C	NTNG2_ENST00000360670.3_Missense_Mutation_p.R253C|NTNG2_ENST00000372179.3_Missense_Mutation_p.R253C|NTNG2_ENST00000393228.4_Missense_Mutation_p.R253C	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	253	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CACCGACCTGCGCATGCGGCT	0.637																																						uc004cbh.2																			0					0						c.(757-759)CGC>TGC		netrin G2 precursor							44.0	50.0	48.0					9																	135073896		2202	4291	6493	SO:0001583	missense	84628				axonogenesis	anchored to plasma membrane		g.chr9:135073896C>T	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"""Netrins"""	14288	protein-coding gene	gene with protein product	"""Netrin-G2"""		"""netrin G1"""	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.757C>T	9.37:g.135073896C>T	ENSP00000376921:p.Arg253Cys						p.R253C	NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)	3	1533	+			253			Laminin N-terminal.		Q5JUJ2|Q6UXY0|Q96JH0	Missense_Mutation	SNP	ENST00000393229.3	37	c.757C>T	CCDS6946.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.003865	0.74932	.	.	ENSG00000196358	ENST00000393229;ENST00000393228;ENST00000360670;ENST00000372179	D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92	5.34	5.34	0.76211	Laminin, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.93122	0.7810	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.94152	0.7406	10	0.87932	D	0	.	14.5844	0.68315	0.1463:0.8537:0.0:0.0	.	253	Q96CW9	NTNG2_HUMAN	C	253	ENSP00000376921:R253C;ENSP00000376920:R253C;ENSP00000353888:R253C;ENSP00000361252:R253C	ENSP00000353888:R253C	R	+	1	0	NTNG2	134063717	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	3.227000	0.51262	2.485000	0.83878	0.491000	0.48974	CGC		0.637	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	NM_032536	
CSF2RA	1438	broad.mit.edu	37	X	1407423	1407423	+	Silent	SNP	C	C	T			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chrX:1407423C>T	ENST00000381524.3	+	5	417	c.231C>T	c.(229-231)aaC>aaT	p.N77N	CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000355805.2_Silent_p.N77N|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000355432.3_Silent_p.N77N|CSF2RA_ENST00000381529.3_Silent_p.N77N|CSF2RA_ENST00000381509.3_Silent_p.N77N|CSF2RA_ENST00000432318.2_Silent_p.N77N|CSF2RA_ENST00000417535.2_Silent_p.N77N|CSF2RA_ENST00000361536.3_Silent_p.N77N|CSF2RA_ENST00000381500.1_Silent_p.N77N			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	77					response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TCAGTAACAACGAATGTTCGT	0.453																																					Esophageal Squamous(131;723 1707 25334 40494 41806)	uc010nct.2																			0				ovary(2)	2						c.(229-231)AAC>AAT		colony stimulating factor 2 receptor alpha chain	Sargramostim(DB00020)						355.0	323.0	334.0					X																	1407423		2203	4296	6499	SO:0001819	synonymous_variant	1438					extracellular region|integral to plasma membrane	cytokine receptor activity	g.chrX:1407423C>T	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"""CD molecules"", ""Pseudoautosomal regions / PAR1"""	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.231C>T	X.37:g.1407423C>T						CSF2RA_uc011mhb.1_Silent_p.N77N|CSF2RA_uc004cpq.2_Silent_p.N77N|CSF2RA_uc004cpn.2_Silent_p.N77N|CSF2RA_uc004cpo.2_Silent_p.N77N|CSF2RA_uc010ncu.2_RNA|CSF2RA_uc011mhc.1_Translation_Start_Site|CSF2RA_uc004cpp.2_Silent_p.N77N|CSF2RA_uc010ncv.2_Silent_p.N77N|CSF2RA_uc004cpr.2_Silent_p.N77N	p.N77N	NM_001161529	NP_001155001	P15509	CSF2R_HUMAN			6	553	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	77			Extracellular (Potential).		A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Silent	SNP	ENST00000381524.3	37	c.231C>T	CCDS35191.1																																																																																				0.453	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2		
SLC25A6	293	broad.mit.edu	37	X	1505534	1505534	+	Silent	SNP	G	G	A			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chrX:1505534G>A	ENST00000381401.5	-	4	1572	c.858C>T	c.(856-858)ttC>ttT	p.F286F	SLC25A6_ENST00000475167.1_5'Flank	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	286					active induction of host immune response by virus (GO:0046732)|ADP transport (GO:0015866)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|modulation by virus of host morphology or physiology (GO:0019048)|protein targeting to mitochondrion (GO:0006626)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP:ADP antiporter activity (GO:0005471)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	GGACCAGCACGAAGGCGCCCC	0.602																																						uc004cpt.2																			0					0						c.(856-858)TTC>TTT		adenine nucleotide translocator 3	Clodronate(DB00720)						241.0	221.0	227.0					X																	1505534		2203	4296	6499	SO:0001819	synonymous_variant	293				active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding	g.chrX:1505534G>A	AY007135	CCDS14114.1	Xp22.32 and Yp11.3	2013-05-22			ENSG00000169100	ENSG00000169100		"""Pseudoautosomal regions / PAR1"", ""Solute carriers"""	10992	protein-coding gene	gene with protein product		300151, 403000		ANT3			Standard	NM_001636		Approved	ANT3Y, MGC17525	uc004cpt.3	P12236	OTTHUMG00000021058	ENST00000381401.5:c.858C>T	X.37:g.1505534G>A						SLC25A6_uc004cpu.2_RNA	p.F286F	NM_001636	NP_001627	P12236	ADT3_HUMAN			4	954	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	286			Helical; Name=6; (By similarity).|Solcar 3.		Q96C49	Silent	SNP	ENST00000381401.5	37	c.858C>T	CCDS14114.1																																																																																				0.602	SLC25A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055596.1	NM_001636	
NRK	203447	broad.mit.edu	37	X	105153812	105153812	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0190-02A-01D-2280-08	TCGA-06-0190-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c065761d-f775-457f-bda0-4c7c257a701e	bf165647-2208-40e4-8f4b-06dea05703eb	g.chrX:105153812C>T	ENST00000243300.9	+	13	2482	c.2179C>T	c.(2179-2181)Cgc>Tgc	p.R727C	NRK_ENST00000428173.2_Missense_Mutation_p.R728C	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	727			R -> H (in dbSNP:rs33936206).		activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CAGGCAAAGGCGCCAACGCAG	0.408										HNSCC(51;0.14)																												uc004emd.2																			0				breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						c.(2179-2181)CGC>TGC		Nik related kinase							20.0	17.0	18.0					X																	105153812		1873	4091	5964	SO:0001583	missense	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105153812C>T	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.2179C>T	X.37:g.105153812C>T	ENSP00000434830:p.Arg727Cys	HNSCC(51;0.14)				NRK_uc010npc.1_Missense_Mutation_p.R395C	p.R727C	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN			13	2482	+			727			Potential.		Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37	c.2179C>T		.	.	.	.	.	.	.	.	.	.	C	13.16	2.155267	0.38021	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.80994	-1.43;-1.44	4.39	4.39	0.52855	.	0.305702	0.24592	N	0.037201	D	0.82300	0.5007	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.63703	0.917;0.635	D	0.84356	0.0535	10	0.87932	D	0	.	13.799	0.63188	0.0:1.0:0.0:0.0	.	395;727	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	C	727;728	ENSP00000434830:R727C;ENSP00000438378:R728C	ENSP00000434830:R727C	R	+	1	0	NRK	105040468	1.000000	0.71417	0.888000	0.34837	0.156000	0.22039	1.709000	0.37909	2.427000	0.82271	0.600000	0.82982	CGC		0.408	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465	
