#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	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CPTP	80772	broad.mit.edu	37	1	1262354	1262354	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr1:1262354G>A	ENST00000343938.4	+	2	475	c.64G>A	c.(64-66)Gat>Aat	p.D22N	CPSF3L_ENST00000545578.1_5'Flank|CPSF3L_ENST00000450926.2_5'Flank|GLTPD1_ENST00000464957.1_Intron|CPSF3L_ENST00000419704.1_5'Flank|CPSF3L_ENST00000540437.1_5'Flank|CPSF3L_ENST00000421495.2_5'Flank|CPSF3L_ENST00000435064.1_5'Flank|CPSF3L_ENST00000411962.1_5'Flank	NM_001029885.1	NP_001025056.1	Q5TA50	CPTP_HUMAN		22					ceramide 1-phosphate transport (GO:1902389)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ceramide 1-phosphate binding (GO:1902387)|ceramide 1-phosphate transporter activity (GO:1902388)|glycolipid binding (GO:0051861)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)			lung(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCAGTGTCTCGATGAGAAGGA	0.562																																						uc001aeo.2		NA																	0					0						c.(64-66)GAT>AAT		glycolipid transfer protein domain containing 1							104.0	93.0	96.0					1																	1262354		2201	4296	6497	SO:0001583	missense	80772					cytoplasm	glycolipid binding|glycolipid transporter activity	g.chr1:1262354G>A																												ENST00000343938.4:c.64G>A	1.37:g.1262354G>A	ENSP00000343890:p.Asp22Asn					CPSF3L_uc001aee.1_5'Flank|CPSF3L_uc001aef.1_5'Flank|CPSF3L_uc009vjz.1_5'Flank|CPSF3L_uc010nyj.1_5'Flank|CPSF3L_uc001aeg.1_5'Flank|CPSF3L_uc001aeh.1_5'Flank|CPSF3L_uc001aei.1_5'Flank|CPSF3L_uc001aej.1_5'Flank|CPSF3L_uc001aek.1_5'Flank|CPSF3L_uc001aem.1_5'Flank|CPSF3L_uc001ael.1_5'Flank|CPSF3L_uc001aen.1_5'Flank	p.D22N	NM_001029885	NP_001025056	Q5TA50	GLTD1_HUMAN		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	2	479	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	22					Q4G0E6|Q7L5A4	Missense_Mutation	SNP	ENST00000343938.4	37	c.64G>A	CCDS30555.1	.	.	.	.	.	.	.	.	.	.	G	5.509	0.278823	0.10458	.	.	ENSG00000224051	ENST00000343938	.	.	.	4.93	3.72	0.42706	Glycolipid transfer protein domain (2);	0.862357	0.10139	N	0.711076	T	0.15652	0.0377	N	0.02802	-0.49	0.09310	N	0.999994	B	0.02656	0.0	B	0.01281	0.0	T	0.30119	-0.9989	9	0.16420	T	0.52	-12.0223	8.2707	0.31842	0.9048:0.0:0.0952:0.0	.	22	Q5TA50	GLTD1_HUMAN	N	22	.	ENSP00000343890:D22N	D	+	1	0	GLTPD1	1252217	0.010000	0.17322	0.643000	0.29450	0.454000	0.32378	0.774000	0.26675	0.711000	0.32018	-0.459000	0.05422	GAT		0.562	GLTPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008742.1			17	71	0	0	0	0	17	71				
ZCCHC17	51538	broad.mit.edu	37	1	31837035	31837035	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr1:31837035G>C	ENST00000373714.1	+	8	982	c.721G>C	c.(721-723)Gag>Cag	p.E241Q	ZCCHC17_ENST00000546109.1_Missense_Mutation_p.E233Q|ZCCHC17_ENST00000344147.5_Missense_Mutation_p.E241Q|FABP3_ENST00000497275.1_5'Flank|ZCCHC17_ENST00000422613.2_Missense_Mutation_p.E243Q	NM_001282568.1|NM_001282570.1	NP_001269497.1|NP_001269499.1	Q9NP64	NO40_HUMAN	zinc finger, CCHC domain containing 17	241						cytosolic large ribosomal subunit (GO:0022625)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222)		STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168)		gaagcacaagGAGTGAGAGTA	0.458																																						uc001bsp.1		NA																	0				ovary(1)	1						c.(721-723)GAG>CAG		zinc finger, CCHC domain containing 17							50.0	54.0	53.0					1																	31837035		2203	4299	6502	SO:0001583	missense	51538					nucleolus	RNA binding|zinc ion binding	g.chr1:31837035G>C	AF151085	CCDS341.1, CCDS60061.1, CCDS72741.1, CCDS72742.1, CCDS72743.1, CCDS72744.1	1p35.2	2008-05-02			ENSG00000121766	ENSG00000121766		"""Zinc fingers, CCHC domain containing"""	30246	protein-coding gene	gene with protein product						12202495, 12893261	Standard	NM_001282572		Approved	PS1D, HSPC251, pNO40	uc001bsp.1	Q9NP64	OTTHUMG00000003791	ENST00000373714.1:c.721G>C	1.37:g.31837035G>C	ENSP00000362819:p.Glu241Gln					ZCCHC17_uc001bsq.1_Missense_Mutation_p.E233Q|ZCCHC17_uc010ogf.1_Missense_Mutation_p.E243Q|ZCCHC17_uc009vtu.1_Missense_Mutation_p.E217Q|ZCCHC17_uc001bsr.1_Missense_Mutation_p.E241Q|ZCCHC17_uc009vtv.1_Missense_Mutation_p.E217Q	p.E241Q	NM_016505	NP_057589	Q9NP64	NO40_HUMAN		STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168)	8	857	+		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222)	241					B4DY38|D3DPN4|Q6PKH4|Q9NYG4|Q9P0M8	Missense_Mutation	SNP	ENST00000373714.1	37	c.721G>C	CCDS341.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.831586	0.32329	.	.	ENSG00000121766	ENST00000344147;ENST00000373714;ENST00000546109;ENST00000422613	.	.	.	4.78	2.9	0.33743	.	0.507028	0.24458	N	0.038341	T	0.32912	0.0845	L	0.51422	1.61	0.23712	N	0.997043	B;B;B	0.23058	0.079;0.079;0.002	B;B;B	0.17098	0.017;0.017;0.001	T	0.32587	-0.9901	9	0.87932	D	0	.	5.6962	0.17857	0.0895:0.0:0.5615:0.349	.	243;233;241	E7EPF0;B4DY38;Q9NP64	.;.;NO40_HUMAN	Q	241;241;233;243	.	ENSP00000343557:E241Q	E	+	1	0	ZCCHC17	31609622	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	5.020000	0.64066	0.924000	0.37069	0.650000	0.86243	GAG		0.458	ZCCHC17-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010665.1	NM_016505		14	28	0	0	0	0	14	28				
CSMD2	114784	broad.mit.edu	37	1	34082539	34082539	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr1:34082539G>C	ENST00000373380.1	-	18	2822	c.2602C>G	c.(2602-2604)Cgg>Ggg	p.R868G	CSMD2_ENST00000373381.4_Missense_Mutation_p.R1995G|CSMD2_ENST00000373377.1_Missense_Mutation_p.R94G|CSMD2_ENST00000373388.2_Missense_Mutation_p.R94G			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1955	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TTCCATCGCCGCACTGTTCCG	0.527																																						uc001bxn.1		NA																	0				ovary(6)|skin(5)|pancreas(1)	12						c.(5863-5865)CGG>GGG		CUB and Sushi multiple domains 2							100.0	94.0	96.0					1																	34082539		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34082539G>C	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.2602C>G	1.37:g.34082539G>C	ENSP00000362478:p.Arg868Gly					CSMD2_uc001bxm.1_Missense_Mutation_p.R1995G|CSMD2_uc001bxo.1_Missense_Mutation_p.R868G	p.R1955G	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			39	5892	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1955			Sushi 11.|Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37	c.5863C>G		.	.	.	.	.	.	.	.	.	.	G	20.4	3.984654	0.74474	.	.	ENSG00000121904	ENST00000373381;ENST00000373380;ENST00000373377;ENST00000373388	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	6.16	1.92	0.25849	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.53514	0.1801	N	0.16233	0.39	0.51012	D	0.999909	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	T	0.44847	-0.9301	10	0.20046	T	0.44	.	15.0185	0.71609	0.0:0.0:0.5113:0.4887	.	868;1955;1995	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	G	1995;868;94;94	ENSP00000362479:R1995G;ENSP00000362478:R868G;ENSP00000362475:R94G;ENSP00000362486:R94G	ENSP00000241312:R1955G	R	-	1	2	CSMD2	33855126	1.000000	0.71417	0.986000	0.45419	0.960000	0.62799	4.293000	0.59037	0.442000	0.26555	-0.188000	0.12872	CGG		0.527	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		17	88	0	0	0	0	17	88				
MACF1	23499	broad.mit.edu	37	1	39792914	39792914	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr1:39792914A>C	ENST00000372915.3	+	35	4605	c.4518A>C	c.(4516-4518)caA>caC	p.Q1506H	MACF1_ENST00000361689.2_Missense_Mutation_p.Q1506H|MACF1_ENST00000317713.7_Missense_Mutation_p.Q1506H|MACF1_ENST00000564288.1_Missense_Mutation_p.Q1501H|MACF1_ENST00000545844.1_Missense_Mutation_p.Q1506H|MACF1_ENST00000539005.1_Missense_Mutation_p.Q1506H|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000567887.1_Missense_Mutation_p.Q1538H			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1506					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAAGAAACAAATATCTGAGC	0.393																																						uc010ois.1		NA																	0				ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(4516-4518)CAA>CAC		microfilament and actin filament cross-linker							62.0	59.0	60.0					1																	39792914		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39792914A>C	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.4518A>C	1.37:g.39792914A>C	ENSP00000362006:p.Gln1506His					MACF1_uc001cda.1_Missense_Mutation_p.Q1414H|MACF1_uc001cdc.1_Missense_Mutation_p.Q593H|MACF1_uc001cdb.1_Missense_Mutation_p.Q593H	p.Q1506H	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		37	4723	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.4518A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.27|10.27	1.303463|1.303463	0.23736|0.23736	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000530262	.|T;T;T;T;T;T	.|0.62788	.|1.33;-0.0;1.33;1.33;1.33;1.33	5.64|5.64	2.63|2.63	0.31362|0.31362	.|.	.|.	.|.	.|.	.|.	T|T	0.56292|0.56292	0.1975|0.1975	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.23650	.|0.089;0.045;0.011	.|B;B;B	.|0.28638	.|0.092;0.033;0.021	T|T	0.56860|0.56860	-0.7909|-0.7909	5|9	.|0.72032	.|D	.|0.01	.|.	5.9222|5.9222	0.19088|0.19088	0.3151:0.132:0.5529:0.0|0.3151:0.132:0.5529:0.0	.|.	.|1506;1506;1471	.|F8W8Q1;Q9UPN3-2;Q9UPN3-3	.|.;.;.	H|H	640|1506;1506;1506;1506;1506;1655	.|ENSP00000439537:Q1506H;ENSP00000362006:Q1506H;ENSP00000354573:Q1506H;ENSP00000313438:Q1506H;ENSP00000444364:Q1506H;ENSP00000437059:Q1655H	.|ENSP00000313438:Q1506H	N|Q	+|+	1|3	0|2	MACF1|MACF1	39565501|39565501	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.830000|0.830000	0.47004|0.47004	0.356000|0.356000	0.20181|0.20181	0.791000|0.791000	0.33826|0.33826	-0.254000|-0.254000	0.11334|0.11334	AAT|CAA		0.393	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		8	19	0	0	0	0	8	19				
EBNA1BP2	10969	broad.mit.edu	37	1	43636551	43636551	+	Splice_Site	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr1:43636551C>T	ENST00000236051.2	-	4	465		c.e4-1		EBNA1BP2_ENST00000431635.2_Splice_Site|WDR65_ENST00000372492.4_5'Flank|WDR65_ENST00000528956.1_5'Flank|EBNA1BP2_ENST00000472982.1_5'Flank	NM_006824.2	NP_006815.2	Q99848	EBP2_HUMAN	EBNA1 binding protein 2						ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTGGCGATAGCTGAGAATCGT	0.512																																						uc001cin.2		NA																	0					0						c.e4-1		EBNA1 binding protein 2 isoform 2							135.0	131.0	132.0					1																	43636551		2203	4300	6503	SO:0001630	splice_region_variant	10969				ribosome biogenesis	membrane fraction|nucleolus	protein binding	g.chr1:43636551C>T	U86602	CCDS478.1, CCDS53308.1	1p35-p33	2011-02-10	2001-11-28		ENSG00000117395	ENSG00000117395			15531	protein-coding gene	gene with protein product		614443	"""EBNA1-binding protein 2"""			10074103, 11438656	Standard	NM_001159936		Approved	NOBP, EBP2, P40	uc010ojx.2	Q99848	OTTHUMG00000007284	ENST00000236051.2:c.324-1G>A	1.37:g.43636551C>T						EBNA1BP2_uc001cio.2_Splice_Site_p.F163_splice|WDR65_uc010ojz.1_5'Flank|WDR65_uc001cip.1_5'Flank|WDR65_uc001ciq.1_5'Flank|EBNA1BP2_uc001cim.2_Splice_Site_p.F3_splice|EBNA1BP2_uc010ojx.1_Splice_Site_p.F163_splice	p.F108_splice	NM_006824	NP_006815	Q99848	EBP2_HUMAN			4	521	-	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)						Q96A66	Splice_Site	SNP	ENST00000236051.2	37	c.324_splice	CCDS478.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.481289	0.63849	.	.	ENSG00000117395	ENST00000431635;ENST00000236051	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1153	0.93336	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EBNA1BP2	43409138	1.000000	0.71417	1.000000	0.80357	0.599000	0.36880	7.332000	0.79203	2.596000	0.87737	0.650000	0.86243	.		0.512	EBNA1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019015.1		Intron	45	88	0	0	0	0	45	88				
DNTTIP2	30836	broad.mit.edu	37	1	94342296	94342296	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr1:94342296C>T	ENST00000436063.2	-	2	1252	c.1195G>A	c.(1195-1197)Gat>Aat	p.D399N	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	399					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		TCTTCTTCATCATCACTACCA	0.403																																						uc001dqf.2		NA																	0					0						c.(1195-1197)GAT>AAT		deoxynucleotidyltransferase, terminal,							282.0	270.0	274.0					1																	94342296		1958	4148	6106	SO:0001583	missense	30836				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr1:94342296C>T	AY394925	CCDS44174.1	1p22.1	2008-02-05			ENSG00000067334	ENSG00000067334			24013	protein-coding gene	gene with protein product	"""acidic 82 kDa protein mRNA"""	611199				15047147	Standard	NM_014597		Approved	HSU15552, ERBP, TdIF2	uc001dqf.3	Q5QJE6	OTTHUMG00000010268	ENST00000436063.2:c.1195G>A	1.37:g.94342296C>T	ENSP00000411010:p.Asp399Asn					DNTTIP2_uc010otm.1_RNA|DNTTIP2_uc009wdo.1_Missense_Mutation_p.D194N	p.D399N	NM_014597	NP_055412	Q5QJE6	TDIF2_HUMAN		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)	2	1233	-		all_lung(203;0.0111)|Lung NSC(277;0.0347)	399					Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9	Missense_Mutation	SNP	ENST00000436063.2	37	c.1195G>A	CCDS44174.1	.	.	.	.	.	.	.	.	.	.	C	3.500	-0.101954	0.06967	.	.	ENSG00000067334	ENST00000436063	T	0.16073	2.37	2.02	-1.32	0.09201	.	2.054370	0.02895	U	0.134597	T	0.04815	0.0130	L	0.43152	1.355	0.09310	N	1	B	0.17038	0.02	B	0.12837	0.008	T	0.37150	-0.9718	10	0.37606	T	0.19	.	5.3619	0.16093	0.0:0.5297:0.0:0.4703	.	399	Q5QJE6	TDIF2_HUMAN	N	399	ENSP00000411010:D399N	ENSP00000352137:D399N	D	-	1	0	DNTTIP2	94114884	0.079000	0.21365	0.006000	0.13384	0.823000	0.46562	0.695000	0.25527	-0.346000	0.08312	0.563000	0.77884	GAT		0.403	DNTTIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028317.2	NM_014597		53	249	0	0	0	0	53	249				
OVGP1	5016	broad.mit.edu	37	1	111969225	111969225	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr1:111969225C>A	ENST00000369732.3	-	3	149	c.94G>T	c.(94-96)Gca>Tca	p.A32S	OVGP1_ENST00000540696.1_5'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	32					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CGACTGTGTGCCCAGTTGGTG	0.532																																						uc001eba.2		NA																	0				ovary(4)|large_intestine(1)	5						c.(94-96)GCA>TCA		oviductal glycoprotein 1 precursor							71.0	67.0	68.0					1																	111969225		2203	4300	6503	SO:0001583	missense	5016				chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	g.chr1:111969225C>A	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.94G>T	1.37:g.111969225C>A	ENSP00000358747:p.Ala32Ser					OVGP1_uc001eaz.2_5'UTR|OVGP1_uc010owb.1_5'UTR|OVGP1_uc010owc.1_Missense_Mutation_p.A22S	p.A32S	NM_002557	NP_002548	Q12889	OVGP1_HUMAN		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)	3	150	-		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)	32					A0AV19|B9EGE1|Q15841	Missense_Mutation	SNP	ENST00000369732.3	37	c.94G>T	CCDS834.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.912908	0.33815	.	.	ENSG00000085465	ENST00000369732;ENST00000369728	T	0.34472	1.36	4.57	4.57	0.56435	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.279169	0.40728	N	0.001028	T	0.22975	0.0555	L	0.31926	0.97	0.80722	D	1	B;B	0.17465	0.022;0.022	B;B	0.41691	0.364;0.364	T	0.09930	-1.0652	10	0.12766	T	0.61	-7.9464	15.2287	0.73369	0.0:1.0:0.0:0.0	.	32;32	B2RA77;Q12889	.;OVGP1_HUMAN	S	32;74	ENSP00000358747:A32S	ENSP00000358743:A74S	A	-	1	0	OVGP1	111770748	1.000000	0.71417	0.997000	0.53966	0.564000	0.35744	1.367000	0.34204	2.523000	0.85059	0.491000	0.48974	GCA		0.532	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		9	28	1	0	9.7e-10	1.23e-09	9	28				
TRIM45	80263	broad.mit.edu	37	1	117663359	117663359	+	Silent	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr1:117663359G>A	ENST00000256649.4	-	1	991	c.465C>T	c.(463-465)tgC>tgT	p.C155C	TRIM45_ENST00000369464.3_Silent_p.C155C|TRIM45_ENST00000369461.3_Silent_p.C98C	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	155					bone development (GO:0060348)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		AGCAGAAGTGGCAGAGGTTGG	0.542																																						uc001egz.2		NA																	0				central_nervous_system(1)	1						c.(463-465)TGC>TGT		tripartite motif-containing 45 isoform 1							102.0	94.0	97.0					1																	117663359		2203	4300	6503	SO:0001819	synonymous_variant	80263					cytoplasm|nucleus	zinc ion binding	g.chr1:117663359G>A		CCDS893.1, CCDS44200.1	1p13.1	2011-04-20	2011-01-25		ENSG00000134253	ENSG00000134253		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19018	protein-coding gene	gene with protein product		609318	"""tripartite motif-containing 45"""			15351693	Standard	NM_025188		Approved	FLJ13181, RNF99	uc001egz.2	Q9H8W5	OTTHUMG00000012119	ENST00000256649.4:c.465C>T	1.37:g.117663359G>A						TRIM45_uc009whe.2_Silent_p.C155C|TRIM45_uc001eha.2_Silent_p.C51C	p.C155C	NM_025188	NP_079464	Q9H8W5	TRI45_HUMAN		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)	1	1053	-	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)	155			B box-type 1.		Q53GN0|Q5T2K4|Q5T2K5|Q8IYV6	Silent	SNP	ENST00000256649.4	37	c.465C>T	CCDS893.1																																																																																				0.542	TRIM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033503.1	NM_025188		22	72	0	0	0	0	22	72				
FLG	2312	broad.mit.edu	37	1	152277569	152277569	+	Missense_Mutation	SNP	C	C	T	rs144217264		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr1:152277569C>T	ENST00000368799.1	-	3	9828	c.9793G>A	c.(9793-9795)Ggg>Agg	p.G3265R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3265	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)			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)			GCAGAGTGCCCGTGACCGGCT	0.582									Ichthyosis																													uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(9793-9795)GGG>AGG		filaggrin		C	ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	263.0	266.0	265.0		9793	2.3	0.0	1	dbSNP_134	265	0,8600		0,0,4300	no	missense	FLG	NM_002016.1	125	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	3265/4062	152277569	1,13005	2203	4300	6503	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.chr1:152277569C>T	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.9793G>A	1.37:g.152277569C>T	ENSP00000357789:p.Gly3265Arg						p.G3265R	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	9829	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3265			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.9793G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.464382	0.26335	2.27E-4	0.0	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.01126	5.3	2.33	2.33	0.28932	.	.	.	.	.	T	0.00468	0.0015	L	0.35593	1.075	0.09310	N	1	P	0.52061	0.95	B	0.41299	0.353	T	0.54957	-0.8215	9	0.31617	T	0.26	-5.3773	8.176	0.31283	0.0:1.0:0.0:0.0	.	3265	P20930	FILA_HUMAN	R	3265;203	ENSP00000357789:G3265R	ENSP00000357786:G203R	G	-	1	0	FLG	150544193	0.000000	0.05858	0.003000	0.11579	0.036000	0.12997	-0.064000	0.11636	1.305000	0.44909	0.449000	0.29647	GGG		0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		219	333	0	0	0	0	219	333				
TSACC	128229	broad.mit.edu	37	1	156314481	156314481	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr1:156314481A>T	ENST00000368255.3	+	3	505	c.145A>T	c.(145-147)Aca>Tca	p.T49S	TSACC_ENST00000368253.2_Missense_Mutation_p.T49S|TSACC_ENST00000470342.1_Missense_Mutation_p.T49S|TSACC_ENST00000368254.1_Missense_Mutation_p.T49S|TSACC_ENST00000368251.1_Missense_Mutation_p.T49S|TSACC_ENST00000368252.1_Missense_Mutation_p.T49S|TSACC_ENST00000481479.1_Missense_Mutation_p.T49S|TSACC_ENST00000466306.1_Missense_Mutation_p.T49S	NM_144627.3	NP_653228.1	Q96A04	TSACC_HUMAN	TSSK6 activating co-chaperone	49						cytoplasm (GO:0005737)	chaperone binding (GO:0051087)										GAACATCCAGACAACAAAGCT	0.507																																						uc001foo.2		NA																	0					0						c.(145-147)ACA>TCA		SSTK-interacting protein							81.0	85.0	84.0					1																	156314481		2203	4300	6503	SO:0001583	missense	128229							g.chr1:156314481A>T	AY048672	CCDS1141.1	1q22	2012-08-16	2012-08-16	2012-08-16	ENSG00000163467	ENSG00000163467			30636	protein-coding gene	gene with protein product	"""SSTK-interacting protein"""		"""chromosome 1 open reading frame 182"""	C1orf182		20829357	Standard	NM_144627		Approved	SSTK-IP, SIP	uc001foo.3	Q96A04	OTTHUMG00000024060	ENST00000368255.3:c.145A>T	1.37:g.156314481A>T	ENSP00000357238:p.Thr49Ser					C1orf182_uc009wry.2_Missense_Mutation_p.T49S|C1orf182_uc001fop.3_Missense_Mutation_p.T49S	p.T49S	NM_144627	NP_653228	Q96A04	CA182_HUMAN			3	507	+	Hepatocellular(266;0.158)		49					D3DVB9	Missense_Mutation	SNP	ENST00000368255.3	37	c.145A>T	CCDS1141.1	.	.	.	.	.	.	.	.	.	.	A	9.292	1.050956	0.19827	.	.	ENSG00000163467	ENST00000368255;ENST00000368254;ENST00000368253;ENST00000368252;ENST00000368251	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	4.95	-8.31	0.01001	.	0.503562	0.16792	N	0.199333	T	0.04543	0.0124	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.31336	-0.9947	10	0.15066	T	0.55	0.0013	3.4404	0.07461	0.193:0.24:0.438:0.1289	.	49	Q96A04	CA182_HUMAN	S	49	ENSP00000357238:T49S;ENSP00000357237:T49S;ENSP00000357236:T49S;ENSP00000357235:T49S;ENSP00000357234:T49S	ENSP00000357234:T49S	T	+	1	0	C1orf182	154581105	0.003000	0.15002	0.001000	0.08648	0.942000	0.58702	-0.505000	0.06367	-1.318000	0.02289	-0.411000	0.06167	ACA		0.507	TSACC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060594.1	NM_144627		20	131	0	0	0	0	20	131				
TNN	63923	broad.mit.edu	37	1	175116091	175116091	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr1:175116091G>A	ENST00000239462.4	+	19	3897	c.3784G>A	c.(3784-3786)Gga>Aga	p.G1262R		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1262	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCCTTGGAAAGGACATGAATT	0.507											OREG0013992	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001gkl.1		NA																	0				large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(3784-3786)GGA>AGA		tenascin N precursor							67.0	67.0	67.0					1																	175116091		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175116091G>A	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.3784G>A	1.37:g.175116091G>A	ENSP00000239462:p.Gly1262Arg		OREG0013992	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1921		p.G1262R	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	19	3897	+		Breast(1374;0.000962)	1262			Fibrinogen C-terminal.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.3784G>A	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	33	5.218093	0.95104	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	D	0.82803	-1.65	5.8	5.8	0.92144	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.93109	0.7806	M	0.90595	3.13	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.93795	0.7096	10	0.87932	D	0	.	19.6456	0.95775	0.0:0.0:1.0:0.0	.	1262	Q9UQP3	TENN_HUMAN	R	1262;1085	ENSP00000239462:G1262R	ENSP00000239462:G1262R	G	+	1	0	TNN	173382714	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.130000	0.94437	2.736000	0.93811	0.579000	0.79373	GGA		0.507	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		9	58	0	0	0	0	9	58				
SIPA1L2	57568	broad.mit.edu	37	1	232626732	232626733	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr1:232626732_232626733GG>AT	ENST00000366630.1	-	4	2051_2052	c.1693_1694CC>AT	c.(1693-1695)CCt>ATt	p.P565I	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.P565I|SIPA1L2_ENST00000486472.1_5'UTR			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	565					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTCTTTGAGAGGTAGTCCTCGT	0.47																																						uc001hvg.2		NA																	0				ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6						c.(1693-1695)CCT>ATT		signal-induced proliferation-associated 1 like																																				SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232626732_232626733GG>AT	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.1693_1694delinsAT	1.37:g.232626732_232626733delinsAT	ENSP00000355589:p.Pro565Ile						p.P565I	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN			3	1851_1852	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	565					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	DNP	ENST00000366630.1	37	c.1693_1694CC>AT	CCDS41474.1																																																																																				0.470	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		12	62	0	0	0	0	12	62				
COL13A1	1305	broad.mit.edu	37	10	71677072	71677072	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr10:71677072G>T	ENST00000398978.3	+	18	1471	c.979G>T	c.(979-981)Ggc>Tgc	p.G327C	COL13A1_ENST00000398973.3_Missense_Mutation_p.G327C|COL13A1_ENST00000522165.1_Missense_Mutation_p.G308C|COL13A1_ENST00000356340.3_Missense_Mutation_p.G327C|COL13A1_ENST00000398971.3_Missense_Mutation_p.G327C|COL13A1_ENST00000520267.1_Missense_Mutation_p.G270C|COL13A1_ENST00000357811.3_Missense_Mutation_p.G305C|COL13A1_ENST00000398966.3_Missense_Mutation_p.G305C|COL13A1_ENST00000354547.3_Missense_Mutation_p.G305C|COL13A1_ENST00000398968.3_Missense_Mutation_p.G308C|COL13A1_ENST00000517713.1_Missense_Mutation_p.G305C|COL13A1_ENST00000520133.1_Missense_Mutation_p.G276C|COL13A1_ENST00000398972.3_Missense_Mutation_p.G327C|COL13A1_ENST00000398964.3_Missense_Mutation_p.G298C|COL13A1_ENST00000398969.3_Missense_Mutation_p.G270C|COL13A1_ENST00000398974.3_Missense_Mutation_p.G315C	NM_001130103.1	NP_001123575.1			collagen, type XIII, alpha 1											endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						AGGGATGCCAGGCAAGCATGG	0.632																																						uc001jpr.1		NA																	0				ovary(1)	1						c.(979-981)GGC>TGC		alpha 1 type XIII collagen isoform 1	Atorvastatin(DB01076)|Simvastatin(DB00641)						55.0	62.0	60.0					10																	71677072		1995	4165	6160	SO:0001583	missense	1305				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding	g.chr10:71677072G>T	AJ293624	CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2	10q22	2013-01-16			ENSG00000197467	ENSG00000197467		"""Collagens"""	2190	protein-coding gene	gene with protein product		120350					Standard	NM_001130103		Approved		uc001jql.3	Q5TAT6	OTTHUMG00000018394	ENST00000398978.3:c.979G>T	10.37:g.71677072G>T	ENSP00000381949:p.Gly327Cys					COL13A1_uc001jqj.1_Missense_Mutation_p.G327C|COL13A1_uc001jps.1_Missense_Mutation_p.G298C|COL13A1_uc001jpt.1_Missense_Mutation_p.G286C|COL13A1_uc001jpu.1_Missense_Mutation_p.G308C|COL13A1_uc001jpv.1_Missense_Mutation_p.G327C|COL13A1_uc001jpx.1_Missense_Mutation_p.G305C|COL13A1_uc001jpw.1_Missense_Mutation_p.G274C|COL13A1_uc001jpy.1_Missense_Mutation_p.G265C|COL13A1_uc001jpz.1_Missense_Mutation_p.G270C|COL13A1_uc001jqa.1_Missense_Mutation_p.G267C|COL13A1_uc001jqc.1_Missense_Mutation_p.G327C|COL13A1_uc001jqb.1_Missense_Mutation_p.G276C|COL13A1_uc001jql.2_Missense_Mutation_p.G327C|COL13A1_uc001jqd.1_Missense_Mutation_p.G315C|COL13A1_uc001jqe.1_Missense_Mutation_p.G310C|COL13A1_uc001jqf.1_Missense_Mutation_p.G308C|COL13A1_uc001jqg.1_Missense_Mutation_p.G305C|COL13A1_uc001jqh.1_Missense_Mutation_p.G327C|COL13A1_uc001jqi.1_Missense_Mutation_p.G327C|COL13A1_uc010qjf.1_Missense_Mutation_p.G117C|COL13A1_uc001jqk.1_Missense_Mutation_p.G165C	p.G327C	NM_005203	NP_005194	Q5TAT6	CODA1_HUMAN			17	1515	+			327			Extracellular (Potential).|Triple-helical region 2 (COL2).			Missense_Mutation	SNP	ENST00000398978.3	37	c.979G>T	CCDS44419.1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.750119	0.49257	.	.	ENSG00000197467	ENST00000398974;ENST00000398971;ENST00000398968;ENST00000398966;ENST00000398964;ENST00000398969;ENST00000356340;ENST00000398972;ENST00000398973;ENST00000398978;ENST00000354547;ENST00000357811;ENST00000520267;ENST00000517713;ENST00000522165;ENST00000520133	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.99637	-6.29;-6.29;-6.29;-6.29;-6.29;-6.29;-6.29;-6.29;-6.29;-6.29;-6.29;-6.29;-6.29;-6.29;-6.29;-6.29	5.31	5.31	0.75309	.	0.000000	0.64402	D	0.000001	D	0.99768	0.9905	H	0.96111	3.77	0.54753	D	0.999984	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;0.999;1.0;1.0;1.0	D	0.97115	0.9807	10	0.87932	D	0	-5.2706	16.7535	0.85493	0.0:0.0:1.0:0.0	.	270;327;327;327;327;305;308;327;315;327;276;305;305;336;327;308;305;298;327	B9EGD2;Q5TAT6;Q5TAT6-5;Q5TAT6-6;E9PEG9;E7ES55;E7ES51;E7ES47;E7ES46;E7ES49;E7EWL8;Q5TAT6-3;Q5TAT6-4;E7EX21;Q5TAT6-7;Q5TAT6-8;Q5TAT6-2;E7ES56;G5E987	.;CODA1_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	C	315;327;308;305;298;270;327;327;327;327;305;305;270;305;308;276	ENSP00000381946:G315C;ENSP00000381943:G327C;ENSP00000381940:G308C;ENSP00000381938:G305C;ENSP00000381936:G298C;ENSP00000381941:G270C;ENSP00000348695:G327C;ENSP00000381944:G327C;ENSP00000381945:G327C;ENSP00000381949:G327C;ENSP00000346553:G305C;ENSP00000350463:G305C;ENSP00000428057:G270C;ENSP00000430061:G305C;ENSP00000428342:G308C;ENSP00000430173:G276C	ENSP00000346553:G305C	G	+	1	0	COL13A1	71347078	1.000000	0.71417	0.982000	0.44146	0.930000	0.56654	5.775000	0.68915	2.494000	0.84150	0.561000	0.74099	GGC		0.632	COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048468.1	NM_005203		11	22	1	0	2.27e-07	2.77e-07	11	22				
FAM178A	55719	broad.mit.edu	37	10	102706839	102706839	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr10:102706839C>T	ENST00000238961.4	+	14	3520	c.2978C>T	c.(2977-2979)cCc>cTc	p.P993L	FAM178A_ENST00000370269.3_Missense_Mutation_p.P993L	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	993						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											TCCAGTCATCCCCACAACCTC	0.363																																						uc001krt.3		NA																	0					0						c.(2977-2979)CCC>CTC		hypothetical protein LOC55719 isoform 1							113.0	119.0	117.0					10																	102706839		2203	4300	6503	SO:0001583	missense	55719							g.chr10:102706839C>T	AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"""chromosome 10 open reading frame 6"""	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.2978C>T	10.37:g.102706839C>T	ENSP00000238961:p.Pro993Leu					FAM178A_uc001krs.2_Missense_Mutation_p.P993L	p.P993L	NM_018121	NP_060591	Q8IX21	F178A_HUMAN			14	3520	+			993					A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	ENST00000238961.4	37	c.2978C>T	CCDS7500.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.832865	0.50951	.	.	ENSG00000119906	ENST00000238961;ENST00000370269	T;T	0.34667	1.36;1.35	6.08	5.12	0.69794	.	0.064075	0.64402	D	0.000014	T	0.35740	0.0942	L	0.36672	1.1	0.44937	D	0.997955	D;D	0.62365	0.991;0.991	P;P	0.56563	0.801;0.801	T	0.12578	-1.0542	10	0.02654	T	1	-10.2358	10.9002	0.47047	0.229:0.771:0.0:0.0	.	993;993	Q8IX21;B1AL17	F178A_HUMAN;.	L	993	ENSP00000238961:P993L;ENSP00000359292:P993L	ENSP00000238961:P993L	P	+	2	0	FAM178A	102696829	0.988000	0.35896	1.000000	0.80357	0.476000	0.33039	2.623000	0.46435	2.894000	0.99253	0.591000	0.81541	CCC		0.363	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3			26	85	0	0	0	0	26	85				
PDZD7	79955	broad.mit.edu	37	10	102777943	102777943	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr10:102777943T>C	ENST00000370215.3	-	9	1660	c.1435A>G	c.(1435-1437)Agg>Ggg	p.R479G		NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	479						cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CGCGCTAGCCTCCCCTGCCGC	0.637																																						uc001kso.1		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(1435-1437)AGG>GGG		PDZ domain containing 7							74.0	72.0	73.0					10																	102777943		2203	4300	6503	SO:0001583	missense	79955					cilium|nucleus	protein binding	g.chr10:102777943T>C	AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.1435A>G	10.37:g.102777943T>C	ENSP00000359234:p.Arg479Gly					PDZD7_uc001ksn.2_Missense_Mutation_p.R479G	p.R479G	NM_024895	NP_079171	Q9H5P4	PDZD7_HUMAN		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)	9	1650	-			479					D5FJ77|Q8N321	Missense_Mutation	SNP	ENST00000370215.3	37	c.1435A>G	CCDS31269.1	.	.	.	.	.	.	.	.	.	.	T	9.593	1.126674	0.20959	.	.	ENSG00000186862	ENST00000393462;ENST00000370215	T	0.11821	2.74	4.12	2.22	0.28083	.	1.338900	0.05007	N	0.470232	T	0.13586	0.0329	L	0.40543	1.245	0.26025	N	0.981814	B;B	0.26547	0.094;0.152	B;B	0.24006	0.037;0.05	T	0.33904	-0.9850	10	0.72032	D	0.01	.	6.7599	0.23534	0.0937:0.0:0.7262:0.1801	.	479;479	Q9H5P4;Q9H5P4-2	PDZD7_HUMAN;.	G	479	ENSP00000359234:R479G	ENSP00000359234:R479G	R	-	1	2	PDZD7	102767933	0.635000	0.27199	0.979000	0.43373	0.045000	0.14185	1.120000	0.31271	0.367000	0.24454	-0.406000	0.06334	AGG		0.637	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049883.1	NM_024895		21	60	0	0	0	0	21	60				
MUC5B	727897	broad.mit.edu	37	11	1264977	1264977	+	Silent	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr11:1264977C>T	ENST00000529681.1	+	31	6925	c.6867C>T	c.(6865-6867)agC>agT	p.S2289S	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.S2292S	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2289	7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACACCCAGCAAGACCCGCA	0.677																																						uc009ycr.1		NA																	0					0						c.(8779-8781)AGC>AGT		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							67.0	99.0	88.0					11																	1264977		2102	4202	6304	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1264977C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.6867C>T	11.37:g.1264977C>T						MUC5B_uc001ltb.2_Silent_p.S2292S	p.S2927S	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	48	8907	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2289			7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.8781C>T	CCDS44515.2																																																																																				0.677	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		22	95	0	0	0	0	22	95				
MUC5B	727897	broad.mit.edu	37	11	1268748	1268748	+	Silent	SNP	C	C	T	rs376033739		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr11:1268748C>T	ENST00000529681.1	+	31	10696	c.10638C>T	c.(10636-10638)agC>agT	p.S3546S	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.S3549S	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3546	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACACCCAGCAAGACCCGCA	0.682																																						uc009ycr.1		NA																	0					0						c.(12220-12222)AGC>AGT		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							61.0	93.0	82.0					11																	1268748		2076	4199	6275	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1268748C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.10638C>T	11.37:g.1268748C>T						MUC5B_uc001ltb.2_Silent_p.S3549S	p.S4074S	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	50	12348	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3546	Missing (in Ref. 6; AAB61398).		7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.12222C>T	CCDS44515.2																																																																																				0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		5	187	0	0	0	0	5	187				
TRIM5	85363	broad.mit.edu	37	11	5699621	5699621	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr11:5699621T>C	ENST00000380034.3	-	4	813	c.557A>G	c.(556-558)gAg>gGg	p.E186G	TRIM5_ENST00000305836.5_Missense_Mutation_p.E186G|TRIM5_ENST00000380027.1_Missense_Mutation_p.E186G|TRIM5_ENST00000396855.3_Missense_Mutation_p.E186G|TRIM5_ENST00000396847.3_Missense_Mutation_p.E186G|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000396853.4_Missense_Mutation_p.E186G	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	186					activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		TCTCAGTTGCTCAAAATCTGC	0.468																																						uc001mbm.1		NA																	0				ovary(1)	1						c.(556-558)GAG>GGG		tripartite motif protein TRIM5 isoform alpha							133.0	126.0	129.0					11																	5699621		2201	4297	6498	SO:0001583	missense	85363				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding	g.chr11:5699621T>C	AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16276	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM5"", ""tripartite motif protein TRIM"""	608487	"""tripartite motif-containing 5"""			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.557A>G	11.37:g.5699621T>C	ENSP00000369373:p.Glu186Gly					TRIM5_uc001mbq.1_Missense_Mutation_p.E186G|TRIM5_uc001mbl.1_RNA|TRIM5_uc001mbn.2_Missense_Mutation_p.E186G|TRIM5_uc001mbo.2_Missense_Mutation_p.E186G|TRIM5_uc001mbp.2_Missense_Mutation_p.E186G	p.E186G	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)	4	814	-		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)	186			Potential.		A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Missense_Mutation	SNP	ENST00000380034.3	37	c.557A>G	CCDS31393.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.94|11.94	1.789387|1.789387	0.31685|0.31685	.|.	.|.	ENSG00000132256|ENSG00000132256	ENST00000396855;ENST00000305836;ENST00000380034;ENST00000380027;ENST00000396847;ENST00000396853;ENST00000412903|ENST00000438025	T;T;T;T;T;T;T|.	0.73469|.	3.53;3.53;3.53;3.53;3.53;3.53;-0.75|.	4.74|4.74	-4.4|-4.4	0.03600|0.03600	.|.	1.601170|.	0.03232|.	N|.	0.179076|.	T|T	0.34948|0.34948	0.0915|0.0915	L|L	0.49778|0.49778	1.585|1.585	0.09310|0.09310	N|N	1|1	B;B;B|.	0.27882|.	0.192;0.045;0.088|.	B;B;B|.	0.30943|.	0.122;0.015;0.028|.	T|T	0.39742|0.39742	-0.9599|-0.9599	10|5	0.39692|.	T|.	0.17|.	.|.	5.7234|5.7234	0.18000|0.18000	0.0:0.2493:0.4103:0.3404|0.0:0.2493:0.4103:0.3404	.|.	186;186;186|.	Q9C035-3;Q9C035-4;Q9C035|.	.;.;TRIM5_HUMAN|.	G|G	186|63	ENSP00000380064:E186G;ENSP00000307031:E186G;ENSP00000369373:E186G;ENSP00000369366:E186G;ENSP00000380058:E186G;ENSP00000380062:E186G;ENSP00000388031:E186G|.	ENSP00000307031:E186G|.	E|S	-|-	2|1	0|0	TRIM5|TRIM5	5656197|5656197	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-1.264000|-1.264000	0.02847|0.02847	-0.912000|-0.912000	0.03837|0.03837	-0.256000|-0.256000	0.11100|0.11100	GAG|AGC		0.468	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3	NM_033034		3	138	0	0	0	0	3	138				
MS4A14	84689	broad.mit.edu	37	11	60183510	60183510	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr11:60183510C>T	ENST00000300187.6	+	5	1346	c.1069C>T	c.(1069-1071)Cct>Tct	p.P357S	MS4A14_ENST00000395005.2_Missense_Mutation_p.P340S|MS4A14_ENST00000531783.1_Missense_Mutation_p.P390S|MS4A14_ENST00000531787.1_Missense_Mutation_p.P245S|MS4A14_ENST00000395001.1_3'UTR	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	357						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						TGACCTGCCCCCTCAAGGcat	0.438																																						uc001npj.2		NA																	0				breast(1)	1						c.(1069-1071)CCT>TCT		membrane-spanning 4-domains, subfamily A, member							128.0	99.0	109.0					11																	60183510		2203	4300	6503	SO:0001583	missense	84689					integral to membrane	receptor activity	g.chr11:60183510C>T	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.1069C>T	11.37:g.60183510C>T	ENSP00000300187:p.Pro357Ser					MS4A14_uc001npi.2_Missense_Mutation_p.P245S|MS4A14_uc001npn.2_Missense_Mutation_p.P95S|MS4A14_uc001npk.2_Missense_Mutation_p.P340S|MS4A14_uc001npl.2_Missense_Mutation_p.P95S|MS4A14_uc001npm.2_Missense_Mutation_p.P95S	p.P357S	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN			5	1634	+			357					E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000300187.6	37	c.1069C>T	CCDS31569.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.829653	0.00584	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	T;T;T;T	0.24908	1.83;3.07;1.85;3.41	3.27	-0.473	0.12112	.	2.522970	0.01290	N	0.009981	T	0.09992	0.0245	N	0.04880	-0.145	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.04013	0.001;0.0	T	0.19160	-1.0314	10	0.02654	T	1	2.0108	2.3227	0.04215	0.2397:0.2744:0.0:0.4859	.	340;357	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	S	245;357;340;390	ENSP00000437222:P245S;ENSP00000300187:P357S;ENSP00000378453:P340S;ENSP00000433761:P390S	ENSP00000300187:P357S	P	+	1	0	MS4A14	59940086	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.269000	0.08596	-0.101000	0.12219	-0.312000	0.09012	CCT		0.438	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			13	27	0	0	0	0	13	27				
CFL1	1072	broad.mit.edu	37	11	65623524	65623524	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr11:65623524C>T	ENST00000525451.2	-	3	908	c.193G>A	c.(193-195)Gac>Aac	p.D65N	CFL1_ENST00000524553.1_Missense_Mutation_p.D48N|CFL1_ENST00000308162.5_Missense_Mutation_p.D65N|CFL1_ENST00000534769.1_Missense_Mutation_p.D103N|CFL1_ENST00000531413.1_Missense_Mutation_p.D48N|CFL1_ENST00000531407.1_Missense_Mutation_p.D48N|CFL1_ENST00000527344.1_Missense_Mutation_p.D48N			P23528	COF1_HUMAN	cofilin 1 (non-muscle)	65	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin cytoskeleton organization (GO:0030036)|actin filament depolymerization (GO:0030042)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytoskeleton organization (GO:0007010)|establishment of cell polarity (GO:0030010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|mitotic cytokinesis (GO:0000281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell size (GO:0045792)|neural crest cell migration (GO:0001755)|neural fold formation (GO:0001842)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of actin filament depolymerization (GO:0030836)|protein import into nucleus (GO:0006606)|protein phosphorylation (GO:0006468)|regulation of cell morphogenesis (GO:0022604)|response to amino acid (GO:0043200)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)	cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				breast(1)|kidney(1)|large_intestine(2)|lung(2)	6				READ - Rectum adenocarcinoma(159;0.169)		TAGGGGTCGTCGACAGTCTGG	0.562																																					Esophageal Squamous(90;820 1366 3932 32351 42291)	uc001ofs.2		NA																	0					0						c.(193-195)GAC>AAC		cofilin 1 (non-muscle)							150.0	135.0	140.0					11																	65623524		2201	4297	6498	SO:0001583	missense	1072				actin cytoskeleton organization|anti-apoptosis|axon guidance|platelet activation|platelet degranulation|response to virus|Rho protein signal transduction	cytoplasm|cytoskeleton|nuclear matrix	actin binding	g.chr11:65623524C>T	X95404	CCDS8114.1	11q13.1	2010-12-03			ENSG00000172757	ENSG00000172757			1874	protein-coding gene	gene with protein product		601442		CFL		8800436	Standard	NM_005507		Approved		uc001ofs.3	P23528		ENST00000525451.2:c.193G>A	11.37:g.65623524C>T	ENSP00000432660:p.Asp65Asn					CFL1_uc001oft.2_Missense_Mutation_p.D65N|CFL1_uc001ofu.2_3'UTR	p.D65N	NM_005507	NP_005498	P23528	COF1_HUMAN		READ - Rectum adenocarcinoma(159;0.169)	2	427	-			65			ADF-H.		B3KUQ1|Q53Y87|Q9UCA2	Missense_Mutation	SNP	ENST00000525451.2	37	c.193G>A	CCDS8114.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.925266	0.52759	.	.	ENSG00000172757	ENST00000525451;ENST00000308162;ENST00000527344;ENST00000531407;ENST00000524553;ENST00000534769;ENST00000531413;ENST00000532134;ENST00000530413;ENST00000534784;ENST00000526975	T;T;T;T;T;T;T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35	3.86	3.86	0.44501	Actin-binding, cofilin/tropomyosin type (3);	0.140473	0.47093	D	0.000245	T	0.29093	0.0723	L	0.37697	1.125	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.06844	-1.0804	10	0.32370	T	0.25	.	14.1452	0.65347	0.0:1.0:0.0:0.0	.	65	P23528	COF1_HUMAN	N	65;65;48;48;48;103;48;65;48;48;65	ENSP00000432660:D65N;ENSP00000309629:D65N;ENSP00000432155:D48N;ENSP00000433910:D48N;ENSP00000432226:D48N;ENSP00000431696:D103N;ENSP00000433131:D48N;ENSP00000436431:D65N;ENSP00000436899:D48N;ENSP00000433308:D48N;ENSP00000432153:D65N	ENSP00000309629:D65N	D	-	1	0	CFL1	65380100	0.496000	0.26059	0.955000	0.39395	0.971000	0.66376	1.279000	0.33191	2.449000	0.82847	0.655000	0.94253	GAC		0.562	CFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390701.3	NM_005507		51	71	0	0	0	0	51	71				
SPTBN2	6712	broad.mit.edu	37	11	66454940	66454940	+	Missense_Mutation	SNP	C	C	T	rs370257588		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr11:66454940C>T	ENST00000533211.1	-	35	7011	c.6680G>A	c.(6679-6681)cGc>cAc	p.R2227H	SPTBN2_ENST00000529997.1_Missense_Mutation_p.R2227H|SPTBN2_ENST00000309996.2_Missense_Mutation_p.R2227H			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2227	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CTCCTGCTTGCGGCACAGCAT	0.642																																						uc001ojd.2		NA																	0				large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(6679-6681)CGC>CAC		spectrin, beta, non-erythrocytic 2		C	HIS/ARG	0,4398		0,0,2199	67.0	71.0	70.0		6680	4.6	1.0	11		70	1,8589	1.2+/-3.3	0,1,4294	no	missense	SPTBN2	NM_006946.2	29	0,1,6493	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	2227/2391	66454940	1,12987	2199	4295	6494	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66454940C>T	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.6680G>A	11.37:g.66454940C>T	ENSP00000432568:p.Arg2227His					SPTBN2_uc001ojc.1_Missense_Mutation_p.A88T	p.R2227H	NM_006946	NP_008877	O15020	SPTN2_HUMAN			34	6752	-			2227			PH.		O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.6680G>A	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.924473	0.73213	0.0	1.16E-4	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997;ENST00000443262	T;T;T	0.35236	1.32;1.32;1.32	4.6	4.6	0.57074	Pleckstrin homology-type (1);Pleckstrin homology domain, spectrin-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	D	0.000003	T	0.68081	0.2962	M	0.91972	3.26	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77104	-0.2711	10	0.87932	D	0	.	16.3781	0.83412	0.0:1.0:0.0:0.0	.	2227	O15020	SPTN2_HUMAN	H	2227;2227;2227;771	ENSP00000432568:R2227H;ENSP00000311489:R2227H;ENSP00000433593:R2227H	ENSP00000311489:R2227H	R	-	2	0	SPTBN2	66211516	1.000000	0.71417	0.999000	0.59377	0.126000	0.20510	7.463000	0.80869	2.396000	0.81511	0.655000	0.94253	CGC		0.642	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		44	73	0	0	0	0	44	73				
PPME1	51400	broad.mit.edu	37	11	73962725	73962725	+	Silent	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr11:73962725G>A	ENST00000328257.8	+	13	1430	c.1107G>A	c.(1105-1107)cgG>cgA	p.R369R	SNORA7_ENST00000384186.1_RNA|PPME1_ENST00000543525.1_Silent_p.R182R|PPME1_ENST00000398427.4_Silent_p.R383R			Q9Y570	PPME1_HUMAN	protein phosphatase methylesterase 1	369					negative regulation of catalytic activity (GO:0043086)|protein demethylation (GO:0006482)|regulation of catalytic activity (GO:0050790)		protein C-terminal methylesterase activity (GO:0051722)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(1)|large_intestine(2)|lung(2)	5	Breast(11;3.29e-05)					TCCTGATCCGGCACAGGTTTG	0.522																																						uc001ouw.2		NA																	0					0						c.(1105-1107)CGG>CGA		protein phosphatase methylesterase 1							100.0	101.0	101.0					11																	73962725		2029	4201	6230	SO:0001819	synonymous_variant	51400				protein demethylation		carboxylesterase activity|protein C-terminal methylesterase activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity	g.chr11:73962725G>A		CCDS44678.1, CCDS60891.1	11q13.4	2014-03-14			ENSG00000214517	ENSG00000214517	3.1.1.89		30178	protein-coding gene	gene with protein product		611117				10318862	Standard	NM_016147		Approved	PME-1	uc009yty.4	Q9Y570	OTTHUMG00000168115	ENST00000328257.8:c.1107G>A	11.37:g.73962725G>A						PPME1_uc009yty.2_Silent_p.R253R|PPME1_uc001oux.2_Silent_p.R182R|P4HA3_uc001ouy.3_Intron	p.R369R	NM_016147	NP_057231	Q9Y570	PPME1_HUMAN			13	1206	+	Breast(11;3.29e-05)		369					B3KMU6|B5MEE7|J3QT22|Q8WYG8|Q9NVT5|Q9UI18	Silent	SNP	ENST00000328257.8	37	c.1107G>A	CCDS44678.1																																																																																				0.522	PPME1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398254.1	NM_016147		5	127	0	0	0	0	5	127				
GRIA4	2893	broad.mit.edu	37	11	105758286	105758286	+	Silent	SNP	C	C	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr11:105758286C>A	ENST00000530497.1	+	5	714	c.714C>A	c.(712-714)atC>atA	p.I238I	GRIA4_ENST00000428631.2_Silent_p.I238I|GRIA4_ENST00000393125.2_Silent_p.I238I|GRIA4_ENST00000393127.2_Silent_p.I238I|GRIA4_ENST00000525187.1_Silent_p.I238I|GRIA4_ENST00000282499.5_Silent_p.I238I			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	238					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		ACCATTATATCATTGCAAACT	0.269																																						uc001pix.2		NA																	0				ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(712-714)ATC>ATA		glutamate receptor, ionotrophic, AMPA 4 isoform	L-Glutamic Acid(DB00142)						91.0	93.0	92.0					11																	105758286		2201	4282	6483	SO:0001819	synonymous_variant	2893				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105758286C>A	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.714C>A	11.37:g.105758286C>A						GRIA4_uc001piu.1_Silent_p.I238I|GRIA4_uc001piw.2_Silent_p.I238I|GRIA4_uc009yxk.1_Silent_p.I238I	p.I238I	NM_000829	NP_000820	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	6	1160	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	238			Extracellular (Potential).		Q86XE8	Silent	SNP	ENST00000530497.1	37	c.714C>A	CCDS8333.1																																																																																				0.269	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			6	61	1	0	0.000157383	0.000187078	6	61				
OR8B12	219858	broad.mit.edu	37	11	124413461	124413461	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr11:124413461A>T	ENST00000306842.2	-	1	114	c.90T>A	c.(88-90)ttT>ttA	p.F30L		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	30						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		AGAAACCCAGAAACAGGAAGA	0.512																																						uc010sam.1		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(88-90)TTT>TTA		olfactory receptor, family 8, subfamily B,							57.0	61.0	59.0					11																	124413461		2201	4299	6500	SO:0001583	missense	219858				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124413461A>T		CCDS31711.1	11q24.2	2013-09-24			ENSG00000170953	ENSG00000170953		"""GPCR / Class A : Olfactory receptors"""	15307	protein-coding gene	gene with protein product							Standard	NM_001005195		Approved		uc010sam.2	Q8NGG6	OTTHUMG00000165922	ENST00000306842.2:c.90T>A	11.37:g.124413461A>T	ENSP00000307159:p.Phe30Leu						p.F30L	NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)	1	90	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	30			Helical; Name=1; (Potential).		B2RNF6|Q6IEW8|Q96RC7	Missense_Mutation	SNP	ENST00000306842.2	37	c.90T>A	CCDS31711.1	.	.	.	.	.	.	.	.	.	.	A	19.34	3.808030	0.70797	.	.	ENSG00000170953	ENST00000306842	T	0.04454	3.62	3.89	1.59	0.23543	.	0.000000	0.56097	D	0.000022	T	0.12263	0.0298	L	0.54323	1.7	0.31150	N	0.705582	D	0.89917	1.0	D	0.87578	0.998	T	0.04017	-1.0984	10	0.87932	D	0	.	4.6526	0.12603	0.5648:0.1605:0.2747:0.0	.	30	Q8NGG6	OR8BC_HUMAN	L	30	ENSP00000307159:F30L	ENSP00000307159:F30L	F	-	3	2	OR8B12	123918671	0.458000	0.25760	0.994000	0.49952	0.914000	0.54420	-0.100000	0.10990	0.339000	0.23719	0.528000	0.53228	TTT		0.512	OR8B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387061.1			22	72	0	0	0	0	22	72				
OR6C4	341418	broad.mit.edu	37	12	55945874	55945874	+	Silent	SNP	T	T	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr12:55945874T>C	ENST00000394256.2	+	1	892	c.864T>C	c.(862-864)taT>taC	p.Y288Y	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|AC009779.1_ENST00000584743.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	288						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						CCTTCATATATACTTTAAGAA	0.333																																						uc010spp.1		NA																	0					0						c.(862-864)TAT>TAC		olfactory receptor, family 6, subfamily C,							42.0	44.0	43.0					12																	55945874		2203	4299	6502	SO:0001819	synonymous_variant	341418				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55945874T>C	BK004261	CCDS31827.1	12q14.2	2012-08-09				ENSG00000179626		"""GPCR / Class A : Olfactory receptors"""	19632	protein-coding gene	gene with protein product							Standard	NM_001005494		Approved		uc010spp.2	Q8NGE1	OTTHUMG00000169959	ENST00000394256.2:c.864T>C	12.37:g.55945874T>C							p.Y288Y	NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN			1	864	+			288			Helical; Name=7; (Potential).		A8MZG7|B2RNN2|Q6IFK1	Silent	SNP	ENST00000394256.2	37	c.864T>C	CCDS31827.1																																																																																				0.333	OR6C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406678.1			13	34	0	0	0	0	13	34				
ACSS3	79611	broad.mit.edu	37	12	81472045	81472045	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr12:81472045G>A	ENST00000548058.1	+	1	1056	c.146G>A	c.(145-147)cGg>cAg	p.R49Q	ACSS3_ENST00000261206.3_Missense_Mutation_p.R49Q			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	49						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						CTCGGGGGCCGGGGATGCAGG	0.731																																						uc001szl.1		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(145-147)CGG>CAG		acyl-CoA synthetase short-chain family member 3							12.0	13.0	13.0					12																	81472045		2036	4059	6095	SO:0001583	missense	79611					mitochondrion	acetate-CoA ligase activity|ATP binding	g.chr12:81472045G>A		CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.146G>A	12.37:g.81472045G>A	ENSP00000449535:p.Arg49Gln					ACSS3_uc001szm.1_Missense_Mutation_p.R49Q	p.R49Q	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN			1	237	+			49					Q8NC66	Missense_Mutation	SNP	ENST00000548058.1	37	c.146G>A	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.208189	0.39003	.	.	ENSG00000111058	ENST00000548058;ENST00000261206	T;T	0.26660	1.72;1.72	4.63	0.421	0.16451	.	0.791425	0.10416	N	0.677338	T	0.12475	0.0303	N	0.08118	0	0.09310	N	0.999992	B	0.31040	0.305	B	0.28638	0.092	T	0.30238	-0.9985	10	0.18276	T	0.48	-2.8239	12.2199	0.54428	0.0:0.0:0.4082:0.5918	.	49	Q9H6R3	ACSS3_HUMAN	Q	49	ENSP00000449535:R49Q;ENSP00000261206:R49Q	ENSP00000261206:R49Q	R	+	2	0	ACSS3	79996176	0.027000	0.19231	0.132000	0.22025	0.020000	0.10135	-0.085000	0.11250	-0.094000	0.12374	-0.261000	0.10672	CGG		0.731	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560		12	14	0	0	0	0	12	14				
ANKLE2	23141	broad.mit.edu	37	12	133331319	133331319	+	Silent	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr12:133331319C>T	ENST00000357997.5	-	2	671	c.582G>A	c.(580-582)aaG>aaA	p.K194K	ANKLE2_ENST00000539605.1_Silent_p.K132K|ANKLE2_ENST00000337516.5_Silent_p.K194K	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	194					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		GGGGCGGCTCCTTAGACGCAG	0.567																																						uc001ukx.2		NA																	0					0						c.(580-582)AAG>AAA		ankyrin repeat and LEM domain containing 2							73.0	72.0	72.0					12																	133331319		1966	4147	6113	SO:0001819	synonymous_variant	23141					cytoplasm|integral to membrane|nuclear envelope		g.chr12:133331319C>T	AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.582G>A	12.37:g.133331319C>T						ANKLE2_uc001uky.3_Silent_p.K132K	p.K194K	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)	2	649	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	194					A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Silent	SNP	ENST00000357997.5	37	c.582G>A	CCDS41869.1																																																																																				0.567	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			17	58	0	0	0	0	17	58				
FREM2	341640	broad.mit.edu	37	13	39265893	39265893	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr13:39265893G>T	ENST00000280481.7	+	1	4628	c.4412G>T	c.(4411-4413)tGc>tTc	p.C1471F		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1471					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CACCTGGAATGCACGGATCAG	0.468																																						uc001uwv.2		NA																	0				ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11						c.(4411-4413)TGC>TTC		FRAS1-related extracellular matrix protein 2							99.0	79.0	86.0					13																	39265893		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39265893G>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.4412G>T	13.37:g.39265893G>T	ENSP00000280481:p.Cys1471Phe						p.C1471F	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	4721	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	1471			Extracellular (Potential).|CSPG 10.		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.4412G>T	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	9.731	1.162150	0.21538	.	.	ENSG00000150893	ENST00000280481	T	0.25749	1.78	5.81	4.97	0.65823	.	0.091220	0.85682	D	0.000000	T	0.20210	0.0486	N	0.21448	0.665	0.80722	D	1	P	0.35944	0.529	B	0.42771	0.397	T	0.04427	-1.0952	10	0.10377	T	0.69	.	11.8897	0.52622	0.1394:0.0:0.8606:0.0	.	1471	Q5SZK8	FREM2_HUMAN	F	1471	ENSP00000280481:C1471F	ENSP00000280481:C1471F	C	+	2	0	FREM2	38163893	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	5.725000	0.68507	1.465000	0.48006	0.655000	0.94253	TGC		0.468	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		13	39	1	0	0.00010058	0.000120466	13	39				
TSC22D1	8848	broad.mit.edu	37	13	45149170	45149170	+	Silent	SNP	A	A	G			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr13:45149170A>G	ENST00000458659.2	-	1	1531	c.1041T>C	c.(1039-1041)gcT>gcC	p.A347A	TSC22D1_ENST00000460842.1_5'Flank|TSC22D1_ENST00000501704.2_Silent_p.A347A	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	347					negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		CACTCACACCAGCAGCACTAG	0.413																																						uc001uzn.3		NA																	0					0						c.(1039-1041)GCT>GCC		TSC22 domain family, member 1 isoform 1							97.0	87.0	91.0					13																	45149170		2203	4300	6503	SO:0001819	synonymous_variant	8848				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:45149170A>G	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.1041T>C	13.37:g.45149170A>G						TSC22D1_uc001uzo.1_Silent_p.A347A	p.A347A	NM_183422	NP_904358	Q15714	T22D1_HUMAN		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)	1	1532	-		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)	347					B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Silent	SNP	ENST00000458659.2	37	c.1041T>C	CCDS31966.1																																																																																				0.413	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		17	53	0	0	0	0	17	53				
CHD8	57680	broad.mit.edu	37	14	21897487	21897487	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr14:21897487G>A	ENST00000557364.1	-	3	1114	c.851C>T	c.(850-852)tCg>tTg	p.S284L	CHD8_ENST00000430710.3_Missense_Mutation_p.S5L|CHD8_ENST00000399982.2_Missense_Mutation_p.S284L|RN7SL650P_ENST00000583681.1_RNA|CHD8_ENST00000555962.1_Intron			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	284					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GATGCGTTTCGATTCACCCTA	0.438																																						uc001was.1		NA																	0				ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10						c.(13-15)TCG>TTG		chromodomain helicase DNA binding protein 8							39.0	41.0	40.0					14																	21897487		1936	4126	6062	SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21897487G>A	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.851C>T	14.37:g.21897487G>A	ENSP00000451601:p.Ser284Leu					CHD8_uc001war.1_5'UTR	p.S5L	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	3	108	-	all_cancers(95;0.00121)		284					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.14C>T	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.500564	0.64298	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364;ENST00000553283	D;D;D	0.89617	-2.54;-2.53;-2.53	6.07	6.07	0.98685	.	0.135236	0.51477	D	0.000085	T	0.80628	0.4659	N	0.14661	0.345	0.45747	D	0.998643	P	0.47302	0.893	B	0.35182	0.197	D	0.84164	0.0430	10	0.72032	D	0.01	-5.9969	19.4153	0.94694	0.0:0.0:1.0:0.0	.	5	Q9HCK8-2	.	L	5;284;4;284;35	ENSP00000406288:S5L;ENSP00000382863:S284L;ENSP00000451601:S284L	ENSP00000262707:S4L	S	-	2	0	CHD8	20967327	1.000000	0.71417	0.991000	0.47740	0.929000	0.56500	8.457000	0.90361	2.890000	0.99128	0.650000	0.86243	TCG		0.438	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		12	38	0	0	0	0	12	38				
EXD2	55218	broad.mit.edu	37	14	69697274	69697274	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr14:69697274C>T	ENST00000409018.3	+	4	804	c.676C>T	c.(676-678)Cgt>Tgt	p.R226C	EXD2_ENST00000409949.1_Missense_Mutation_p.R101C|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000409014.1_Missense_Mutation_p.R101C|EXD2_ENST00000449989.1_Missense_Mutation_p.R101C|EXD2_ENST00000409242.1_Missense_Mutation_p.R101C|EXD2_ENST00000312994.5_Missense_Mutation_p.R226C|EXD2_ENST00000409675.1_Missense_Mutation_p.R101C	NM_001193361.1	NP_001180290.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	226	3'-5' exonuclease.						3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)	p.R101G(1)|p.R226G(1)		breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						CCTTCTACTTCGTTGCAGCAA	0.423																																						uc001xkt.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(301-303)CGT>TGT		exonuclease 3'-5' domain containing 2							157.0	151.0	153.0					14																	69697274		2203	4300	6503	SO:0001583	missense	55218				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr14:69697274C>T	AK001600	CCDS9793.1, CCDS53902.1	14q24.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000081177	ENSG00000081177			20217	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 114"", ""exonuclease 3'-5' domain-like 2"""	C14orf114, EXDL2			Standard	NM_018199		Approved	FLJ10738	uc001xkv.3	Q9NVH0	OTTHUMG00000154496	ENST00000409018.3:c.676C>T	14.37:g.69697274C>T	ENSP00000387331:p.Arg226Cys					EXD2_uc001xku.2_5'UTR|EXD2_uc001xkv.2_Missense_Mutation_p.R226C|EXD2_uc001xkw.2_Missense_Mutation_p.R101C|EXD2_uc001xkx.2_RNA|EXD2_uc010aqt.2_Missense_Mutation_p.R226C|EXD2_uc010tte.1_Missense_Mutation_p.R226C|EXD2_uc001xky.2_Missense_Mutation_p.R101C	p.R101C	NM_018199	NP_060669	Q9NVH0	EXD2_HUMAN			6	960	+			101			3'-5' exonuclease.		B4DIH6|G5E947|Q6AWB6|Q8N3D3	Missense_Mutation	SNP	ENST00000409018.3	37	c.301C>T	CCDS53902.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.725157	0.89298	.	.	ENSG00000081177	ENST00000409018;ENST00000193422;ENST00000409014;ENST00000409675;ENST00000409949;ENST00000409242;ENST00000312994;ENST00000413191;ENST00000449989	T;T;T;T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07	5.33	5.33	0.75918	-5&apos (1);Ribonuclease H-like (1); exonuclease (1);3&apos (1);	0.000000	0.85682	D	0.000000	T	0.79992	0.4542	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.99;0.993	T	0.82639	-0.0358	10	0.87932	D	0	-12.6898	14.2579	0.66065	0.149:0.851:0.0:0.0	.	226;101	G5E947;Q9NVH0	.;EXD2_HUMAN	C	226;226;101;101;101;101;226;101;101	ENSP00000387331:R226C;ENSP00000386915:R101C;ENSP00000386762:R101C;ENSP00000386632:R101C;ENSP00000386839:R101C;ENSP00000313140:R226C;ENSP00000409089:R101C;ENSP00000392177:R101C	ENSP00000193422:R226C	R	+	1	0	EXD2	68767027	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.242000	0.58714	2.637000	0.89404	0.655000	0.94253	CGT		0.423	EXD2-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000335504.1			16	81	0	0	0	0	16	81				
COQ6	51004	broad.mit.edu	37	14	74426168	74426168	+	Silent	SNP	A	A	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr14:74426168A>C	ENST00000334571.2	+	8	874	c.834A>C	c.(832-834)gcA>gcC	p.A278A	ENTPD5_ENST00000557325.1_3'UTR|COQ6_ENST00000394026.4_Silent_p.A253A|COQ6_ENST00000554920.1_Intron|COQ6_ENST00000238709.4_Silent_p.A203A	NM_182476.2	NP_872282.1	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 monooxygenase	278					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	cell projection (GO:0042995)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(234;0.00337)		ATGAACATGCAGCAGAGCTAG	0.483																																						uc001xph.2		NA																	0					0						c.(832-834)GCA>GCC		coenzyme Q6 homolog isoform a							259.0	226.0	237.0					14																	74426168		2203	4300	6503	SO:0001819	synonymous_variant	51004				ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen	g.chr14:74426168A>C	AF132944	CCDS9823.1, CCDS9824.1, CCDS9824.2	14q24.1	2013-05-01	2013-05-01		ENSG00000119723	ENSG00000119723			20233	protein-coding gene	gene with protein product		614647	"""coenzyme Q6 homolog (yeast)"", ""coenzyme Q6 homolog, monooxygenase (yeast)"", ""coenzyme Q6 homolog, monooxygenase (S. cerevisiae)"""			21540551	Standard	NM_182476		Approved	CGI-10	uc001xph.3	Q9Y2Z9	OTTHUMG00000171260	ENST00000334571.2:c.834A>C	14.37:g.74426168A>C						ENTPD5_uc001xpi.2_3'UTR|COQ6_uc001xpe.2_Silent_p.A203A|COQ6_uc001xpf.2_Silent_p.A203A|COQ6_uc010tuk.1_Silent_p.A253A|COQ6_uc010tun.1_3'UTR|COQ6_uc001xpg.2_Silent_p.A278A	p.A278A	NM_182476	NP_872282	Q9Y2Z9	COQ6_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00337)	8	914	+			278					B7Z3K8|Q53GG6|Q86U30|Q96CA1|Q96CK2	Silent	SNP	ENST00000334571.2	37	c.834A>C	CCDS9823.1																																																																																				0.483	COQ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412616.1			18	110	0	0	0	0	18	110				
NPAP1	23742	broad.mit.edu	37	15	24922410	24922410	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr15:24922410C>T	ENST00000329468.2	+	1	1870	c.1396C>T	c.(1396-1398)Cct>Tct	p.P466S		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	466	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											TCTGGCTCTTCCTGCTGACCT	0.498																																						uc001ywo.2		NA																	0				ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(1396-1398)CCT>TCT		hypothetical protein LOC23742							190.0	185.0	187.0					15																	24922410		2203	4300	6503	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24922410C>T	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1396C>T	15.37:g.24922410C>T	ENSP00000333735:p.Pro466Ser						p.P466S	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	1870	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	466			Pro-rich.			Missense_Mutation	SNP	ENST00000329468.2	37	c.1396C>T	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	12.89	2.074013	0.36566	.	.	ENSG00000185823	ENST00000329468	T	0.09817	2.94	2.07	-1.22	0.09494	.	0.856152	0.09587	N	0.782035	T	0.08403	0.0209	L	0.38175	1.15	0.09310	N	1	P	0.34587	0.458	B	0.40410	0.328	T	0.40794	-0.9544	10	0.17832	T	0.49	.	2.8945	0.05687	0.0:0.4352:0.2432:0.3216	.	466	Q9NZP6	CO002_HUMAN	S	466	ENSP00000333735:P466S	ENSP00000333735:P466S	P	+	1	0	C15orf2	22473503	0.000000	0.05858	0.000000	0.03702	0.336000	0.28762	-0.126000	0.10563	-0.313000	0.08728	-0.657000	0.03884	CCT		0.498	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		44	158	0	0	0	0	44	158				
TMEM62	80021	broad.mit.edu	37	15	43446919	43446919	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr15:43446919G>C	ENST00000260403.2	+	9	1351	c.1072G>C	c.(1072-1074)Gat>Cat	p.D358H		NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	358						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		AGTTAAGATTGATGGAGTTCA	0.388																																						uc001zqr.2		NA																	0				ovary(1)|breast(1)	2						c.(1072-1074)GAT>CAT		transmembrane protein 62							168.0	144.0	152.0					15																	43446919		2203	4299	6502	SO:0001583	missense	80021					integral to membrane		g.chr15:43446919G>C	BC009981	CCDS32210.1	15q15.2	2014-09-11			ENSG00000137842	ENSG00000137842			26269	protein-coding gene	gene with protein product							Standard	NM_024956		Approved	FLJ23375	uc001zqr.3	Q0P6H9	OTTHUMG00000176485	ENST00000260403.2:c.1072G>C	15.37:g.43446919G>C	ENSP00000260403:p.Asp358His					TMEM62_uc010bda.2_Missense_Mutation_p.D228H	p.D358H	NM_024956	NP_079232	Q0P6H9	TMM62_HUMAN		GBM - Glioblastoma multiforme(94;4.23e-07)	9	1351	+		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)	358					Q6I9Y5|Q9H5J6	Missense_Mutation	SNP	ENST00000260403.2	37	c.1072G>C	CCDS32210.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.769110	0.69992	.	.	ENSG00000137842	ENST00000260403	T	0.53423	0.62	5.67	3.78	0.43462	.	0.089576	0.85682	D	0.000000	T	0.70684	0.3252	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.77013	-0.2745	10	0.72032	D	0.01	-10.6326	13.0803	0.59109	0.1369:0.0:0.8631:0.0	.	358	Q0P6H9	TMM62_HUMAN	H	358	ENSP00000260403:D358H	ENSP00000260403:D358H	D	+	1	0	TMEM62	41234211	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	5.465000	0.66725	1.541000	0.49316	-0.225000	0.12378	GAT		0.388	TMEM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432227.1	NM_024956		4	33	0	0	0	0	4	33				
ACSM5	54988	broad.mit.edu	37	16	20442600	20442600	+	Missense_Mutation	SNP	G	G	A	rs144464842		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr16:20442600G>A	ENST00000331849.4	+	10	1412	c.1265G>A	c.(1264-1266)cGt>cAt	p.R422H		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	422					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.R422L(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GTTGCCGTCCGTATCAGACCC	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		22813	0.0		0.001	False		,,,				2504	0.0					uc002dhe.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1264-1266)CGT>CAT		acyl-CoA synthetase medium-chain family member 5		G	HIS/ARG	0,4406		0,0,2203	190.0	157.0	168.0		1265	4.4	0.2	16	dbSNP_134	168	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ACSM5	NM_017888.2	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	422/580	20442600	2,13004	2203	4300	6503	SO:0001583	missense	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20442600G>A		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.1265G>A	16.37:g.20442600G>A	ENSP00000327916:p.Arg422His						p.R422H	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN			10	1412	+			422					Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	37	c.1265G>A	CCDS10585.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	18.03	3.531480	0.64972	0.0	2.33E-4	ENSG00000183549	ENST00000331849	T	0.51071	0.72	4.37	4.37	0.52481	AMP-dependent synthetase/ligase (1);	0.135616	0.32328	N	0.006257	T	0.64659	0.2618	M	0.68593	2.085	0.45837	D	0.998703	D	0.76494	0.999	D	0.63113	0.911	T	0.70346	-0.4897	10	0.87932	D	0	-12.1048	16.0686	0.80907	0.0:0.0:1.0:0.0	.	422	Q6NUN0	ACSM5_HUMAN	H	422	ENSP00000327916:R422H	ENSP00000327916:R422H	R	+	2	0	ACSM5	20350101	0.013000	0.17824	0.249000	0.24280	0.847000	0.48162	1.751000	0.38339	2.119000	0.64992	0.650000	0.86243	CGT		0.502	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		36	214	0	0	0	0	36	214				
SCNN1G	6340	broad.mit.edu	37	16	23221114	23221114	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr16:23221114A>G	ENST00000300061.2	+	7	1264	c.1121A>G	c.(1120-1122)gAg>gGg	p.E374G	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	374					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	CAGTGCACGGAGGACGGGAGT	0.617																																						uc002dlm.1		NA																	0				ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6						c.(1120-1122)GAG>GGG		sodium channel, nonvoltage-gated 1, gamma	Amiloride(DB00594)|Triamterene(DB00384)						145.0	107.0	120.0					16																	23221114		2197	4300	6497	SO:0001583	missense	6340				excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23221114A>G	U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10602	protein-coding gene	gene with protein product		600761	"""sodium channel, nonvoltage-gated 1, gamma"", ""sodium channel, non-voltage-gated 1, gamma"""			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.1121A>G	16.37:g.23221114A>G	ENSP00000300061:p.Glu374Gly						p.E374G	NM_001039	NP_001030	P51170	SCNNG_HUMAN		GBM - Glioblastoma multiforme(48;0.0366)	7	1260	+			374			Extracellular (By similarity).		P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Missense_Mutation	SNP	ENST00000300061.2	37	c.1121A>G	CCDS10608.1	.	.	.	.	.	.	.	.	.	.	A	15.56	2.868529	0.51588	.	.	ENSG00000166828	ENST00000300061	T	0.64991	-0.13	5.93	5.93	0.95920	.	0.206167	0.43747	D	0.000521	T	0.57213	0.2038	L	0.60455	1.87	0.45822	D	0.998698	P	0.43231	0.801	B	0.40741	0.339	T	0.56559	-0.7959	10	0.26408	T	0.33	-13.5068	10.7543	0.46228	0.8584:0.0:0.0:0.1416	.	374	P51170	SCNNG_HUMAN	G	374	ENSP00000300061:E374G	ENSP00000300061:E374G	E	+	2	0	SCNN1G	23128615	1.000000	0.71417	0.996000	0.52242	0.850000	0.48378	3.763000	0.55257	2.271000	0.75665	0.459000	0.35465	GAG		0.617	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254496.1	NM_001039		9	76	0	0	0	0	9	76				
PAGR1	79447	broad.mit.edu	37	16	29828566	29828566	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr16:29828566A>G	ENST00000320330.6	+	2	1080	c.518A>G	c.(517-519)gAg>gGg	p.E173G	AC009133.12_ENST00000564980.1_RNA|PAGR1_ENST00000609618.1_Missense_Mutation_p.E173G|AC009133.20_ENST00000569039.1_RNA|AC009133.12_ENST00000569809.1_RNA			Q9BTK6	PAGR1_HUMAN	PAXIP1 associated glutamate-rich protein 1	173						histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)											TTTGATGATGAGCCAGTGACA	0.557											OREG0023722	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002dug.3		NA																	0					0						c.(517-519)GAG>GGG		PTIP-associated 1 protein							149.0	109.0	122.0					16																	29828566		2197	4300	6497	SO:0001583	missense	79447							g.chr16:29828566A>G	BC003640	CCDS10655.1	16p11.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000185928	ENSG00000185928			28707	protein-coding gene	gene with protein product	"""glutamate-rich coactivator interacting with SRC1/NCOA1"", ""PTIP-associated 1 protein"", ""glutamate-rich coactivator associated with SRC1"""	612033	"""chromosome 16 open reading frame 53"""	C16orf53		17500065, 19039327	Standard	NM_024516		Approved	MGC4606, GAS, PA1	uc002dug.4	Q9BTK6	OTTHUMG00000132117	ENST00000320330.6:c.518A>G	16.37:g.29828566A>G	ENSP00000326519:p.Glu173Gly		OREG0023722	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	812	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron	p.E173G	NM_024516	NP_078792	Q9BTK6	PA1_HUMAN			2	837	+			173					A2ICR6	Missense_Mutation	SNP	ENST00000320330.6	37	c.518A>G	CCDS10655.1	.	.	.	.	.	.	.	.	.	.	A	32	5.124269	0.94429	.	.	ENSG00000185928	ENST00000320330	.	.	.	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.76169	0.3950	M	0.66939	2.045	0.51767	D	0.999936	D	0.76494	0.999	D	0.74023	0.982	T	0.78846	-0.2043	9	0.72032	D	0.01	-12.1272	13.2546	0.60070	1.0:0.0:0.0:0.0	.	173	Q9BTK6	PA1_HUMAN	G	173	.	ENSP00000326519:E173G	E	+	2	0	C16orf53	29736067	1.000000	0.71417	0.996000	0.52242	0.926000	0.56050	6.877000	0.75562	2.020000	0.59435	0.533000	0.62120	GAG		0.557	PAGR1-002	PUTATIVE	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000473165.1	NM_024516		9	42	0	0	0	0	9	42				
DPEP1	1800	broad.mit.edu	37	16	89702704	89702704	+	Silent	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr16:89702704G>A	ENST00000393092.3	+	4	561	c.270G>A	c.(268-270)caG>caA	p.Q90Q	DPEP1_ENST00000261615.4_Silent_p.Q90Q|DPEP1_ENST00000421184.1_Silent_p.Q90Q	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	90					antibiotic metabolic process (GO:0016999)|arachidonic acid metabolic process (GO:0019369)|cellular lactam catabolic process (GO:0072340)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to nitric oxide (GO:0071732)|glutathione metabolic process (GO:0006749)|homocysteine metabolic process (GO:0050667)|leukotriene metabolic process (GO:0006691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|dipeptidyl-peptidase activity (GO:0008239)|GPI anchor binding (GO:0034235)|metallodipeptidase activity (GO:0070573)|metalloexopeptidase activity (GO:0008235)|modified amino acid binding (GO:0072341)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	GCGACACCCAGAACAAAGACG	0.652																																						uc010cin.2		NA																	0				large_intestine(1)	1						c.(268-270)CAG>CAA		dipeptidase 1 precursor	Cilastatin(DB01597)						43.0	39.0	41.0					16																	89702704		2182	4291	6473	SO:0001819	synonymous_variant	1800				proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding	g.chr16:89702704G>A		CCDS10982.1	16q24	2011-07-22			ENSG00000015413	ENSG00000015413	3.4.13.19		3002	protein-coding gene	gene with protein product		179780					Standard	NM_004413		Approved		uc002fnr.4	P16444	OTTHUMG00000138052	ENST00000393092.3:c.270G>A	16.37:g.89702704G>A						DPEP1_uc002fnr.3_Silent_p.Q90Q|DPEP1_uc002fns.3_Silent_p.Q90Q	p.Q90Q	NM_001128141	NP_001121613	P16444	DPEP1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0258)	4	473	+		all_lung(18;0.0054)|all_hematologic(23;0.094)	90					D3DX80|Q96AK2	Silent	SNP	ENST00000393092.3	37	c.270G>A	CCDS10982.1																																																																																				0.652	DPEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000423058.1	NM_001128141		9	24	0	0	0	0	9	24				
SERPINF1	5176	broad.mit.edu	37	17	1675260	1675260	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr17:1675260A>T	ENST00000254722.4	+	5	697	c.534A>T	c.(532-534)caA>caT	p.Q178H		NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	178					aging (GO:0007568)|cell proliferation (GO:0008283)|kidney development (GO:0001822)|multicellular organismal development (GO:0007275)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of inflammatory response (GO:0050728)|positive regulation of neurogenesis (GO:0050769)|regulation of proteolysis (GO:0030162)|response to glucocorticoid (GO:0051384)|response to retinoic acid (GO:0032526)|short-term memory (GO:0007614)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						TGGACCTGCAAGAGATCAACA	0.552																																						uc002ftl.2		NA																	0				ovary(1)	1						c.(532-534)CAA>CAT		serine (or cysteine) proteinase inhibitor, clade							84.0	78.0	80.0					17																	1675260		2203	4300	6503	SO:0001583	missense	5176				cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity	g.chr17:1675260A>T	M76979	CCDS11012.1	17p13.3	2014-02-18	2005-08-18		ENSG00000132386	ENSG00000132386		"""Serine (or cysteine) peptidase inhibitors"""	8824	protein-coding gene	gene with protein product	"""pigment epithelium-derived factor"", ""proliferation-inducing protein 35"""	172860	"""serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1"""	PEDF		8434014, 24172014	Standard	NM_002615		Approved	EPC-1, PIG35	uc002ftl.3	P36955	OTTHUMG00000090571	ENST00000254722.4:c.534A>T	17.37:g.1675260A>T	ENSP00000254722:p.Gln178His					SERPINF1_uc010cjw.2_Translation_Start_Site	p.Q178H	NM_002615	NP_002606	P36955	PEDF_HUMAN			5	691	+			178					F1T092|Q13236|Q2TU83|Q96CT1|Q96R01|Q9BWA4	Missense_Mutation	SNP	ENST00000254722.4	37	c.534A>T	CCDS11012.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342280	0.24339	.	.	ENSG00000132386	ENST00000254722	D	0.85088	-1.94	5.79	3.7	0.42460	Serpin domain (3);	0.096191	0.64402	D	0.000001	T	0.76407	0.3983	L	0.38531	1.155	0.80722	D	1	B	0.15473	0.013	B	0.16289	0.015	T	0.70142	-0.4953	10	0.56958	D	0.05	.	7.0123	0.24869	0.2558:0.1216:0.6226:0.0	.	178	P36955	PEDF_HUMAN	H	178	ENSP00000254722:Q178H	ENSP00000254722:Q178H	Q	+	3	2	SERPINF1	1622010	1.000000	0.71417	1.000000	0.80357	0.019000	0.09904	2.361000	0.44160	0.815000	0.34398	-0.215000	0.12644	CAA		0.552	SERPINF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207109.4	NM_002615		7	32	0	0	0	0	7	32				
TP53	7157	broad.mit.edu	37	17	7577022	7577022	+	Nonsense_Mutation	SNP	G	G	A	rs121913344		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr17:7577022G>A	ENST00000269305.4	-	8	1105	c.916C>T	c.(916-918)Cga>Tga	p.R306*	TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R306*|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*	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	306	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		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.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(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)	TGCTTACCTCGCTTAGTGCTC	0.562	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	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	R306*(MFE296_ENDOMETRIUM)|R306*(HCC1937_BREAST)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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		147	Substitution - Nonsense(133)|Whole gene deletion(8)|Unknown(3)|Deletion - Frameshift(2)|Insertion - Frameshift(1)	p.R306*(99)|p.0?(7)|p.?(3)|p.R306R(2)|p.R306fs*39(2)|p.K305fs*1(1)	large_intestine(39)|breast(21)|upper_aerodigestive_tract(15)|ovary(11)|central_nervous_system(10)|oesophagus(10)|stomach(8)|lung(8)|endometrium(6)|bone(4)|pancreas(3)|haematopoietic_and_lymphoid_tissue(3)|biliary_tract(3)|kidney(2)|NS(2)|urinary_tract(1)|liver(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	CM971506	TP53	M	rs121913344	c.(916-918)CGA>TGA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							120.0	106.0	110.0					17																	7577022		2203	4300	6503	SO:0001587	stop_gained	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.chr17:7577022G>A	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.916C>T	17.37:g.7577022G>A	ENSP00000269305:p.Arg306*	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_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.R306*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R174*|TP53_uc010cng.1_Nonsense_Mutation_p.R174*|TP53_uc002gii.1_Nonsense_Mutation_p.R174*|TP53_uc010cnh.1_Nonsense_Mutation_p.R306*|TP53_uc010cni.1_Nonsense_Mutation_p.R306*|TP53_uc002gij.2_Nonsense_Mutation_p.R306*	p.R306*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1110	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	306		R -> Q (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).	Bipartite nuclear localization signal.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.		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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.916C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782988	0.90282	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.26	3.21	0.36854	.	1.348720	0.05032	N	0.474808	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.4785	0.44678	0.0:0.0:0.6334:0.3666	.	.	.	.	X	306;306;306;306;306;295;174	.	ENSP00000269305:R306X	R	-	1	2	TP53	7517747	1.000000	0.71417	0.970000	0.41538	0.345000	0.29048	2.280000	0.43443	0.735000	0.32537	0.561000	0.74099	CGA		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		83	19	0	0	0	0	83	19				
PFAS	5198	broad.mit.edu	37	17	8167249	8167249	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr17:8167249C>T	ENST00000314666.6	+	15	1919	c.1786C>T	c.(1786-1788)Cgg>Tgg	p.R596W	PFAS_ENST00000585319.1_3'UTR|PFAS_ENST00000545834.1_Missense_Mutation_p.R172W	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	596					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	CACTGGAGACCGGAGAGTGAG	0.597																																						uc002gkr.2		NA																	0				ovary(2)|central_nervous_system(2)|pancreas(1)	5						c.(1786-1788)CGG>TGG		phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						59.0	59.0	59.0					17																	8167249		2203	4300	6503	SO:0001583	missense	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8167249C>T	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.1786C>T	17.37:g.8167249C>T	ENSP00000313490:p.Arg596Trp					PFAS_uc010vuv.1_Missense_Mutation_p.R172W|PFAS_uc010cnw.1_Intron|PFAS_uc002gks.2_5'Flank	p.R596W	NM_012393	NP_036525	O15067	PUR4_HUMAN			15	1927	+			596					A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	37	c.1786C>T	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.490792	0.84962	.	.	ENSG00000178921	ENST00000545834;ENST00000314666	T;T	0.31247	1.5;1.5	5.84	2.23	0.28157	AIR synthase-related protein, C-terminal (2);	0.290063	0.37809	N	0.001936	T	0.36826	0.0981	M	0.65677	2.01	0.26918	N	0.966748	D	0.61080	0.989	P	0.53185	0.72	T	0.26360	-1.0105	10	0.72032	D	0.01	-10.483	3.4834	0.07610	0.4775:0.2196:0.3028:0.0	.	596	O15067	PUR4_HUMAN	W	172;596	ENSP00000441706:R172W;ENSP00000313490:R596W	ENSP00000313490:R596W	R	+	1	2	PFAS	8107974	1.000000	0.71417	0.990000	0.47175	0.975000	0.68041	2.417000	0.44653	0.465000	0.27167	-0.457000	0.05445	CGG		0.597	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			8	78	0	0	0	0	8	78				
AKAP10	11216	broad.mit.edu	37	17	19835125	19835125	+	Missense_Mutation	SNP	G	G	A	rs139003893		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr17:19835125G>A	ENST00000225737.6	-	10	1791	c.1634C>T	c.(1633-1635)gCg>gTg	p.A545V	RP11-209D14.4_ENST00000583067.1_RNA|AKAP10_ENST00000395536.3_Intron	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	545					blood coagulation (GO:0007596)|protein localization (GO:0008104)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					TACCTGAGACGCAGAGCTGTC	0.483																																						uc002gwo.2		NA																	0				skin(1)	1						c.(1633-1635)GCG>GTG		A-kinase anchor protein 10 precursor		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	69.0	65.0	66.0		1634	5.7	0.0	17	dbSNP_134	66	0,8600		0,0,4300	no	missense	AKAP10	NM_007202.2	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	545/663	19835125	1,13005	2203	4300	6503	SO:0001583	missense	11216				blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity	g.chr17:19835125G>A	AF037439	CCDS11214.1	17p11.1	2008-07-18			ENSG00000108599	ENSG00000108599		"""A-kinase anchor proteins"""	368	protein-coding gene	gene with protein product	"""dual-specificity A-kinase anchoring protein 2"", ""protein kinase A anchoring protein 10"", ""mitochondrial A kinase PPKA anchor protein 10"""	604694				9326583	Standard	NM_007202		Approved	D-AKAP2, PRKA10, MGC9414	uc002gwo.4	O43572	OTTHUMG00000059515	ENST00000225737.6:c.1634C>T	17.37:g.19835125G>A	ENSP00000225737:p.Ala545Val					AKAP10_uc002gwp.1_Missense_Mutation_p.A545V|AKAP10_uc010cqw.1_Intron	p.A545V	NM_007202	NP_009133	O43572	AKA10_HUMAN			10	1771	-	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)		545					B2R650|Q96AJ7	Missense_Mutation	SNP	ENST00000225737.6	37	c.1634C>T	CCDS11214.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.881402	0.33255	2.27E-4	0.0	ENSG00000108599	ENST00000225737	T	0.32753	1.44	5.72	5.72	0.89469	.	0.763866	0.12878	N	0.431687	T	0.28300	0.0699	L	0.44542	1.39	0.09310	N	1	B	0.24426	0.103	B	0.14023	0.01	T	0.09422	-1.0675	10	0.27082	T	0.32	0.0091	14.4719	0.67521	0.0:0.1466:0.8534:0.0	.	545	O43572	AKA10_HUMAN	V	545	ENSP00000225737:A545V	ENSP00000225737:A545V	A	-	2	0	AKAP10	19775717	0.675000	0.27558	0.006000	0.13384	0.219000	0.24729	2.798000	0.47884	2.708000	0.92522	0.650000	0.86243	GCG		0.483	AKAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132380.2	NM_007202		10	48	0	0	0	0	10	48				
VTN	7448	broad.mit.edu	37	17	26694894	26694894	+	Missense_Mutation	SNP	C	C	T	rs150566083		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr17:26694894C>T	ENST00000226218.4	-	7	1784	c.1166G>A	c.(1165-1167)cGc>cAc	p.R389H	CTB-96E2.2_ENST00000555059.2_Missense_Mutation_p.R47H|VTN_ENST00000536498.1_5'UTR|VTN_ENST00000438614.1_5'UTR|CTB-96E2.3_ENST00000591482.1_RNA|VTN_ENST00000431468.1_5'Flank|TMEM199_ENST00000509083.1_Intron|SARM1_ENST00000379061.4_Intron	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	389	Heparin-binding.				cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endopeptidase activity (GO:0010951)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein binding (GO:0032092)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of wound healing (GO:0090303)|regulation of complement activation (GO:0030449)|smooth muscle cell-matrix adhesion (GO:0061302)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|blood microparticle (GO:0072562)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.R389H(1)		kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Abciximab(DB00054)	GTTCTGGTTGCGGCCACGGCT	0.592																																						uc002hbc.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)|kidney(1)	2						c.(1165-1167)CGC>CAC		vitronectin precursor	Urokinase(DB00013)	C	HIS/ARG	0,4406		0,0,2203	50.0	46.0	48.0		1166	2.7	0.0	17	dbSNP_134	48	2,8598	2.2+/-6.3	0,2,4298	yes	missense	VTN	NM_000638.3	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	389/479	26694894	2,13004	2203	4300	6503	SO:0001583	missense	7448				cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity	g.chr17:26694894C>T	BC005046	CCDS11229.1	17q11.2	2014-08-08	2006-02-10		ENSG00000109072	ENSG00000109072		"""Endogenous ligands"""	12724	protein-coding gene	gene with protein product	"""serum spreading factor"", ""somatomedin B"", ""complement S-protein"""	193190	"""vitronectin (serum spreading factor, somatomedin B, complement S-protein)"""			2447940	Standard	NM_000638		Approved	VN	uc002hbc.3	P04004	OTTHUMG00000132500	ENST00000226218.4:c.1166G>A	17.37:g.26694894C>T	ENSP00000226218:p.Arg389His					SARM1_uc010wah.1_Intron|SEBOX_uc010wai.1_5'Flank|SEBOX_uc010crk.1_5'UTR|SARM1_uc010waj.1_Intron	p.R389H	NM_000638	NP_000629	P04004	VTNC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	7	1315	-	all_lung(13;0.000533)|Lung NSC(42;0.00171)		389			Heparin-binding.		B2R7G0|P01141|Q9BSH7	Missense_Mutation	SNP	ENST00000226218.4	37	c.1166G>A	CCDS11229.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.790566	0.31685	0.0	2.33E-4	ENSG00000255604	ENST00000226218	T	0.05081	3.5	4.65	2.68	0.31781	Hemopexin/matrixin (1);	0.318929	0.30930	N	0.008597	T	0.04634	0.0126	N	0.20986	0.625	0.20403	N	0.999906	B	0.13145	0.007	B	0.08055	0.003	T	0.34750	-0.9816	10	0.62326	D	0.03	-6.7317	7.8715	0.29569	0.0:0.743:0.0:0.257	.	389	P04004	VTNC_HUMAN	H	389	ENSP00000226218:R389H	ENSP00000226218:R389H	R	-	2	0	AC002094.1	23719021	0.001000	0.12720	0.015000	0.15790	0.005000	0.04900	0.216000	0.17585	0.595000	0.29777	-0.244000	0.11960	CGC		0.592	VTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255680.2	NM_000638		12	30	0	0	0	0	12	30				
PLXDC1	57125	broad.mit.edu	37	17	37265528	37265528	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr17:37265528T>C	ENST00000315392.4	-	3	583	c.372A>G	c.(370-372)atA>atG	p.I124M	PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Missense_Mutation_p.I84M|PLXDC1_ENST00000539608.1_Missense_Mutation_p.I51M|PLXDC1_ENST00000394316.2_Missense_Mutation_p.I124M	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1	124					angiogenesis (GO:0001525)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)	receptor activity (GO:0004872)			kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TGTTGGAGAGTATTGTGTGGA	0.632																																						uc002hrg.2		NA																	0				ovary(1)|kidney(1)|skin(1)	3						c.(370-372)ATA>ATG		plexin domain containing 1 precursor							137.0	116.0	123.0					17																	37265528		2203	4300	6503	SO:0001583	missense	57125				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction		g.chr17:37265528T>C	AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381			20945	protein-coding gene	gene with protein product	"""tumor endothelial marker 7 precursor"""	606826				10947988, 11559528	Standard	NM_020405		Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.372A>G	17.37:g.37265528T>C	ENSP00000323927:p.Ile124Met					PLXDC1_uc002hrh.2_RNA|PLXDC1_uc002hri.2_RNA|PLXDC1_uc002hrj.1_RNA|PLXDC1_uc002hrk.1_RNA	p.I124M	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN			3	584	-			124			Extracellular (Potential).		B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	Missense_Mutation	SNP	ENST00000315392.4	37	c.372A>G	CCDS11333.1	.	.	.	.	.	.	.	.	.	.	T	11.73	1.726629	0.30593	.	.	ENSG00000161381	ENST00000315392;ENST00000394318;ENST00000539608;ENST00000444911;ENST00000394316;ENST00000441877;ENST00000415163	T;T;T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04;-1.04;-1.04	4.86	2.77	0.32553	.	0.054186	0.64402	D	0.000001	T	0.67776	0.2929	L	0.28608	0.87	0.49687	D	0.999816	P	0.42409	0.779	B	0.40038	0.317	T	0.65689	-0.6107	10	0.39692	T	0.17	-21.4781	15.1304	0.72517	0.0:0.0:0.8304:0.1696	.	124	Q8IUK5	PXDC1_HUMAN	M	124;51;51;84;124;51;51	ENSP00000323927:I124M;ENSP00000441881:I51M;ENSP00000409687:I84M;ENSP00000377851:I124M;ENSP00000393227:I51M;ENSP00000416819:I51M	ENSP00000323927:I124M	I	-	3	3	PLXDC1	34519054	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.382000	0.34374	0.470000	0.27294	-0.418000	0.06021	ATA		0.632	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256892.2	NM_020405		14	33	0	0	0	0	14	33				
RAMP2	10266	broad.mit.edu	37	17	40914816	40914816	+	Silent	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr17:40914816C>T	ENST00000253796.5	+	4	542	c.474C>T	c.(472-474)ccC>ccT	p.P158P	RAMP2_ENST00000587142.1_Silent_p.P163P|RAMP2_ENST00000589683.1_Silent_p.P83P|RAMP2_ENST00000588576.1_3'UTR|RAMP2-AS1_ENST00000592670.1_lincRNA	NM_005854.2	NP_005845.2	O60895	RAMP2_HUMAN	receptor (G protein-coupled) activity modifying protein 2	158					adherens junction assembly (GO:0034333)|angiogenesis (GO:0001525)|basement membrane assembly (GO:0070831)|calcium ion transport (GO:0006816)|cAMP biosynthetic process (GO:0006171)|cellular response to hormone stimulus (GO:0032870)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|heart development (GO:0007507)|intracellular protein transport (GO:0006886)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of vascular permeability (GO:0043116)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of gene expression (GO:0010628)|positive regulation of vasculogenesis (GO:2001214)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of blood pressure (GO:0008217)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|sprouting angiogenesis (GO:0002040)|tight junction assembly (GO:0070830)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|protein transporter activity (GO:0008565)			endometrium(2)|lung(1)|stomach(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0741)	Pramlintide(DB01278)	GCCTCATCCCCTTCCTCATCA	0.567																																						uc002ibg.2		NA																	0					0						c.(472-474)CCC>CCT		receptor activity modifying protein 2 precursor	Pramlintide(DB01278)						90.0	89.0	89.0					17																	40914816		2203	4300	6503	SO:0001819	synonymous_variant	10266				intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	coated pit|integral to plasma membrane|lysosome	protein transporter activity	g.chr17:40914816C>T	AJ001015	CCDS11437.1	17q12-q21.1	2012-08-17	2006-11-21		ENSG00000131477	ENSG00000131477		"""Receptor (G protein-coupled) activity modifying proteins"""	9844	protein-coding gene	gene with protein product		605154	"""receptor activity modifying protein 2"", ""receptor (calcitonin) activity modifying protein 2"""				Standard	NM_005854		Approved		uc002ibg.3	O60895		ENST00000253796.5:c.474C>T	17.37:g.40914816C>T						LOC100190938_uc002ibd.1_5'Flank|LOC100190938_uc002ibe.3_5'Flank|LOC100190938_uc002ibf.3_5'Flank|RAMP2_uc010cyt.2_Silent_p.P163P|RAMP2_uc002ibh.2_3'UTR	p.P158P	NM_005854	NP_005845	O60895	RAMP2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0741)	4	542	+		Breast(137;0.000143)	158			Helical; (Potential).		A7L9S6|K7EMD3|Q8N1F2	Silent	SNP	ENST00000253796.5	37	c.474C>T	CCDS11437.1																																																																																				0.567	RAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452380.1	NM_005854		17	49	0	0	0	0	17	49				
SOX9	6662	broad.mit.edu	37	17	70119789	70119789	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr17:70119789G>A	ENST00000245479.2	+	3	1163	c.791G>A	c.(790-792)aGa>aAa	p.R264K		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	264					astrocyte fate commitment (GO:0060018)|branching involved in ureteric bud morphogenesis (GO:0001658)|cAMP-mediated signaling (GO:0019933)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to heparin (GO:0071504)|cellular response to interleukin-1 (GO:0071347)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|chondrocyte hypertrophy (GO:0003415)|chromatin remodeling (GO:0006338)|cochlea morphogenesis (GO:0090103)|cytoskeleton organization (GO:0007010)|endocardial cushion morphogenesis (GO:0003203)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in prostatic bud elongation (GO:0060517)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|heart valve development (GO:0003170)|heart valve formation (GO:0003188)|heart valve morphogenesis (GO:0003179)|intestinal epithelial structure maintenance (GO:0060729)|intrahepatic bile duct development (GO:0035622)|limb bud formation (GO:0060174)|lung epithelial cell differentiation (GO:0060487)|male germ-line sex determination (GO:0019100)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of bone mineralization (GO:0030502)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune system process (GO:0002683)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of ossification (GO:0030279)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|notochord development (GO:0030903)|nucleosome assembly (GO:0006334)|oligodendrocyte differentiation (GO:0048709)|ossification (GO:0001503)|otic vesicle formation (GO:0030916)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of kidney development (GO:0090184)|positive regulation of male gonad development (GO:2000020)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein complex assembly (GO:0006461)|protein kinase B signaling (GO:0043491)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in lung morphogenesis (GO:0061046)|regulation of cell adhesion (GO:0030155)|regulation of cell cycle process (GO:0010564)|regulation of cell proliferation (GO:0042127)|regulation of cell proliferation involved in tissue homeostasis (GO:0060784)|regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000794)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|tissue homeostasis (GO:0001894)|transcription from RNA polymerase II promoter (GO:0006366)|ureter morphogenesis (GO:0072197)|ureter smooth muscle cell differentiation (GO:0072193)|ureter urothelium development (GO:0072190)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enhancer binding (GO:0035326)|enhancer sequence-specific DNA binding (GO:0001158)|pre-mRNA intronic binding (GO:0097157)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase activity (GO:0004672)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R264T(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			GAGGGGGGCAGACAGCCCCCT	0.647																																					Pancreas(42;83 1041 2320 35205 39456)	uc002jiw.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)		0						c.(790-792)AGA>AAA		transcription factor SOX9							59.0	70.0	66.0					17																	70119789		2203	4299	6502	SO:0001583	missense	6662				cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr17:70119789G>A	S74506	CCDS11689.1	17q24.3	2013-10-17	2008-07-31		ENSG00000125398	ENSG00000125398		"""SRY (sex determining region Y)-boxes"""	11204	protein-coding gene	gene with protein product		608160	"""campomelic dysplasia, autosomal sex-reversal"""	CMD1, CMPD1		8348155	Standard	NM_000346		Approved	SRA1	uc002jiw.3	P48436	OTTHUMG00000166300	ENST00000245479.2:c.791G>A	17.37:g.70119789G>A	ENSP00000245479:p.Arg264Lys					uc002jiv.2_5'Flank	p.R264K	NM_000346	NP_000337	P48436	SOX9_HUMAN	STAD - Stomach adenocarcinoma(260;0.119)		3	1163	+		Colorectal(1115;0.245)	264					Q53Y80	Missense_Mutation	SNP	ENST00000245479.2	37	c.791G>A	CCDS11689.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104734	0.56291	.	.	ENSG00000125398	ENST00000245479;ENST00000455872	T	0.78246	-1.16	4.53	4.53	0.55603	.	0.000000	0.64402	D	0.000002	T	0.75191	0.3816	M	0.69463	2.115	0.80722	D	1	B	0.30236	0.274	B	0.24848	0.056	T	0.74503	-0.3644	10	0.33940	T	0.23	.	16.8595	0.86014	0.0:0.0:1.0:0.0	.	264	P48436	SOX9_HUMAN	K	264	ENSP00000245479:R264K	ENSP00000245479:R264K	R	+	2	0	SOX9	67631384	1.000000	0.71417	1.000000	0.80357	0.277000	0.26821	9.327000	0.96396	2.062000	0.61559	0.462000	0.41574	AGA		0.647	SOX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389032.1	NM_000346		25	99	0	0	0	0	25	99				
TXNDC2	84203	broad.mit.edu	37	18	9886722	9886722	+	Silent	SNP	C	C	T	rs200597390		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr18:9886722C>T	ENST00000306084.6	+	2	445	c.246C>T	c.(244-246)gcC>gcT	p.A82A	TXNDC2_ENST00000536353.2_Silent_p.A15A|TXNDC2_ENST00000357775.5_Silent_p.A15A|TXNDC2_ENST00000426718.3_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	82					cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						AGTCTGATGCCTCACAGGAGG	0.567																																						uc002koi.3		NA																	0				ovary(1)|pancreas(1)	2						c.(244-246)GCC>GCT		thioredoxin domain-containing 2 isoform 2		C	,	0,4406		0,0,2203	147.0	98.0	115.0		246,45	-1.4	0.0	18		115	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TXNDC2	NM_001098529.1,NM_032243.5	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	82/554,15/487	9886722	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84203				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9886722C>T	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.246C>T	18.37:g.9886722C>T						TXNDC2_uc010wzq.1_RNA|TXNDC2_uc002koh.3_Silent_p.A15A	p.A82A	NM_001098529	NP_001091999	Q86VQ3	TXND2_HUMAN			2	695	+			82					A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Silent	SNP	ENST00000306084.6	37	c.246C>T	CCDS42414.1																																																																																				0.567	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			23	81	0	0	0	0	23	81				
MC2R	4158	broad.mit.edu	37	18	13885467	13885467	+	Silent	SNP	A	A	G			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr18:13885467A>G	ENST00000327606.3	-	2	231	c.51T>C	c.(49-51)aaT>aaC	p.N17N		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	17					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	AGTCGGAATTATTTCTTGCTG	0.433																																					Colon(141;1584 1782 35999 48227 48692)	uc002ksp.1		NA																	0				ovary(4)|skin(1)	5						c.(49-51)AAT>AAC		melanocortin 2 receptor	Corticotropin(DB01285)|Cosyntropin(DB01284)						231.0	189.0	203.0					18																	13885467		2203	4300	6503	SO:0001819	synonymous_variant	4158				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	g.chr18:13885467A>G		CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"""GPCR / Class A : Melanocortin receptors"""	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.51T>C	18.37:g.13885467A>G							p.N17N	NM_000529	NP_000520	Q01718	ACTHR_HUMAN			2	228	-			17			Extracellular (By similarity).		A8K016|Q3MI45|Q504X6	Silent	SNP	ENST00000327606.3	37	c.51T>C	CCDS11869.1																																																																																				0.433	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2			9	39	0	0	0	0	9	39				
SERPINB10	5273	broad.mit.edu	37	18	61602211	61602211	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr18:61602211G>A	ENST00000238508.3	+	8	988	c.929G>A	c.(928-930)gGg>gAg	p.G310E	AC009802.1_ENST00000599868.1_Intron	NM_005024.1	NP_005015.1	P48595	SPB10_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 10	310					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				AGCAGTATGGGGATGAGTGAT	0.438																																						uc010xev.1		NA																	0				lung(1)|kidney(1)|skin(1)	3						c.(928-930)GGG>GAG		serine (or cysteine) proteinase inhibitor, clade							139.0	118.0	125.0					18																	61602211		2203	4300	6503	SO:0001583	missense	5273					cytoplasm|nucleus	serine-type endopeptidase inhibitor activity	g.chr18:61602211G>A	U35459	CCDS11990.1	18q21.3	2014-02-18	2005-08-18		ENSG00000242550	ENSG00000242550		"""Serine (or cysteine) peptidase inhibitors"""	8942	protein-coding gene	gene with protein product	"""protease inhibitor 10 (ovalbumin type, bomapin)"""	602058	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10"""	PI10		9268635, 10871600, 24172014	Standard	NM_005024		Approved	bomapin		P48595	OTTHUMG00000060594	ENST00000238508.3:c.929G>A	18.37:g.61602211G>A	ENSP00000238508:p.Gly310Glu					SERPINB10_uc010xew.1_Missense_Mutation_p.G310E	p.G310E	NM_005024	NP_005015	P48595	SPB10_HUMAN			8	1019	+		Esophageal squamous(42;0.131)	310					Q4VAX4|Q4VAX7	Missense_Mutation	SNP	ENST00000238508.3	37	c.929G>A	CCDS11990.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.719814	0.48728	.	.	ENSG00000242550	ENST00000238508	D	0.92446	-3.04	5.53	4.65	0.58169	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.97489	0.9178	H	0.97440	4.005	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.98834	1.0752	10	0.87932	D	0	.	15.1263	0.72486	0.0:0.0:0.8574:0.1425	.	310	P48595	SPB10_HUMAN	E	310	ENSP00000238508:G310E	ENSP00000238508:G310E	G	+	2	0	SERPINB10	59753191	1.000000	0.71417	0.889000	0.34880	0.003000	0.03518	7.850000	0.86915	1.460000	0.47911	-0.181000	0.13052	GGG		0.438	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134012.3	NM_005024		8	27	0	0	0	0	8	27				
CCL25	6370	broad.mit.edu	37	19	8122704	8122704	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr19:8122704G>C	ENST00000390669.3	+	4	395	c.345G>C	c.(343-345)aaG>aaC	p.K115N	CCL25_ENST00000315626.4_Missense_Mutation_p.E71Q|CCL25_ENST00000253451.4_Missense_Mutation_p.K114N			O15444	CCL25_HUMAN	chemokine (C-C motif) ligand 25	115					cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|negative regulation of leukocyte tethering or rolling (GO:1903237)|positive regulation of cell-matrix adhesion (GO:0001954)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR10 chemokine receptor binding (GO:0031735)|chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)|hormone activity (GO:0005179)			NS(1)|endometrium(1)|lung(1)|skin(1)|urinary_tract(1)	5						atgctgtaaagaagttgagtt	0.468																																						uc002mjd.2		NA																	0					0						c.(343-345)AAG>AAC		small inducible cytokine A25 precursor							96.0	90.0	92.0					19																	8122704		1949	4138	6087	SO:0001583	missense	6370				chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space|soluble fraction	CCR10 chemokine receptor binding|chemokine activity|hormone activity	g.chr19:8122704G>C	U86358	CCDS12194.1, CCDS56080.1	19p13.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000131142	ENSG00000131142		"""Chemokine ligands"", ""Endogenous ligands"""	10624	protein-coding gene	gene with protein product	"""Ck beta-15"", ""thymus expressed chemokine"", ""TECKvar"""	602565	"""small inducible cytokine subfamily A (Cys-Cys), member 25"""	SCYA25		9285413, 9722960	Standard	NM_005624		Approved	TECK, Ckb15	uc002mjd.3	O15444	OTTHUMG00000141287	ENST00000390669.3:c.345G>C	19.37:g.8122704G>C	ENSP00000375086:p.Lys115Asn					CCL25_uc002mjc.3_Missense_Mutation_p.K114N|CCL25_uc010dvy.1_Missense_Mutation_p.E71Q	p.K115N	NM_005624	NP_005615	O15444	CCL25_HUMAN			4	345	+			115					A1L4J4|A6NI52|A8K9E7|B5MCA5|Q96KJ7	Missense_Mutation	SNP	ENST00000390669.3	37	c.345G>C	CCDS12194.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.879|1.879	-0.458336|-0.458336	0.04508|0.04508	.|.	.|.	ENSG00000131142|ENSG00000131142	ENST00000315626|ENST00000253451;ENST00000390669	T|T;T	0.51817|0.15834	0.69|2.42;2.39	1.1|1.1	1.1|1.1	0.20463|0.20463	.|Chemokine interleukin-8-like domain (1);	.|.	.|.	.|.	.|.	T|T	0.07818|0.07818	0.0196|0.0196	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	D|P;P	0.60575|0.37233	0.988|0.588;0.588	D|B;B	0.65140|0.21708	0.932|0.036;0.036	T|T	0.25047|0.25047	-1.0143|-1.0143	9|9	0.87932|0.56958	D|D	0|0.05	-4.5134|-4.5134	5.5574|5.5574	0.17123|0.17123	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	71|115;114	C9JDZ7|O15444;A6NI52	.|CCL25_HUMAN;.	Q|N	71|114;115	ENSP00000324756:E71Q|ENSP00000253451:K114N;ENSP00000375086:K115N	ENSP00000324756:E71Q|ENSP00000253451:K114N	E|K	+|+	1|3	0|2	CCL25|CCL25	8028704|8028704	0.161000|0.161000	0.22892|0.22892	0.011000|0.011000	0.14972|0.14972	0.067000|0.067000	0.16453|0.16453	0.314000|0.314000	0.19432|0.19432	0.910000|0.910000	0.36722|0.36722	0.195000|0.195000	0.17529|0.17529	GAA|AAG		0.468	CCL25-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280522.1	NM_005624		11	27	0	0	0	0	11	27				
CDKN2D	1032	broad.mit.edu	37	19	10675689	10675689	+	IGR	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr19:10675689G>A	ENST00000393599.2	-	0	1422				KRI1_ENST00000312962.6_Missense_Mutation_p.R70W|KRI1_ENST00000361821.5_Missense_Mutation_p.R66W|KRI1_ENST00000537964.1_5'UTR	NM_001800.3|NM_079421.2	NP_001791.1|NP_524145.1	P55273	CDN2D_HUMAN	cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)						autophagic cell death (GO:0048102)|cell cycle arrest (GO:0007050)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of phosphorylation (GO:0042326)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to retinoic acid (GO:0032526)|response to UV (GO:0009411)|response to vitamin D (GO:0033280)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein kinase binding (GO:0019901)			endometrium(3)|lung(2)|ovary(1)	6			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			TAAAAGTCCCGCTCCTGCTGG	0.517											OREG0025239	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002moy.1		NA																	0				ovary(1)	1						c.(208-210)CGG>TGG		KRI1 homolog							76.0	82.0	80.0					19																	10675689		2203	4300	6503	SO:0001628	intergenic_variant	65095							g.chr19:10675689G>A		CCDS12244.1	19p13	2013-01-10				ENSG00000129355		"""Ankyrin repeat domain containing"""	1790	protein-coding gene	gene with protein product		600927				8575754	Standard	NM_079421		Approved	INK4D, p19	uc002mpa.3	P55273			19.37:g.10675689G>A			OREG0025239	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	666	KRI1_uc002mox.1_Missense_Mutation_p.R66W	p.R70W	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		3	217	-			70					Q13102|Q6FGE9	Missense_Mutation	SNP	ENST00000393599.2	37	c.208C>T	CCDS12244.1	.	.	.	.	.	.	.	.	.	.	g	20.1	3.932029	0.73442	.	.	ENSG00000129347	ENST00000312962;ENST00000361821;ENST00000541101;ENST00000539027	T;T;T	0.39056	1.1;1.1;1.1	4.09	1.59	0.23543	.	0.131886	0.44902	U	0.000410	T	0.52901	0.1763	M	0.73217	2.22	0.36699	D	0.880005	D;D	0.76494	0.999;0.999	P;P	0.56088	0.763;0.791	T	0.64927	-0.6292	10	0.72032	D	0.01	-13.7142	10.9714	0.47441	0.0:0.0:0.5482:0.4518	.	70;66	Q8N9T8;D3YTE0	KRI1_HUMAN;.	W	70;66;70;61	ENSP00000320917:R70W;ENSP00000355366:R66W;ENSP00000445789:R61W	ENSP00000320917:R70W	R	-	1	2	KRI1	10536689	0.106000	0.21978	0.995000	0.50966	0.915000	0.54546	1.105000	0.31086	0.766000	0.33244	0.442000	0.29010	CGG		0.517	CDKN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452030.1	NM_079421		52	39	0	0	0	0	52	39				
FCHO1	23149	broad.mit.edu	37	19	17892312	17892312	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr19:17892312T>A	ENST00000596536.1	+	22	2075	c.1792T>A	c.(1792-1794)Ttg>Atg	p.L598M	FCHO1_ENST00000539407.1_Missense_Mutation_p.L598M|FCHO1_ENST00000596951.1_Missense_Mutation_p.L598M|FCHO1_ENST00000252771.7_Missense_Mutation_p.L598M|FCHO1_ENST00000600676.1_Missense_Mutation_p.L598M|FCHO1_ENST00000389133.4_Missense_Mutation_p.L598M|FCHO1_ENST00000597512.1_Missense_Mutation_p.L605M|FCHO1_ENST00000595033.1_Missense_Mutation_p.L548M|FCHO1_ENST00000594202.1_Missense_Mutation_p.L598M	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1	598					clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	AP-2 adaptor complex binding (GO:0035612)			NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CAGCACTGCCTTGGAACGGCC	0.622																																						uc010ebb.2		NA																	0				breast(1)	1						c.(1792-1794)TTG>ATG		FCH domain only 1 isoform b							65.0	52.0	56.0					19																	17892312		2203	4300	6503	SO:0001583	missense	23149							g.chr19:17892312T>A	AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475			29002	protein-coding gene	gene with protein product		613437				12477932	Standard	NM_001161357		Approved	KIAA0290	uc002nhg.3	O14526		ENST00000596536.1:c.1792T>A	19.37:g.17892312T>A	ENSP00000470731:p.Leu598Met					FCHO1_uc002nhg.3_Missense_Mutation_p.L598M|FCHO1_uc002nhh.2_Missense_Mutation_p.L598M|FCHO1_uc010xpw.1_Missense_Mutation_p.L548M|FCHO1_uc002nhi.2_Missense_Mutation_p.L54M|FCHO1_uc002nhj.2_Translation_Start_Site	p.L598M	NM_001161358	NP_001154830	O14526	FCHO1_HUMAN			21	1981	+			598					A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22	Missense_Mutation	SNP	ENST00000596536.1	37	c.1792T>A	CCDS32955.1	.	.	.	.	.	.	.	.	.	.	T	9.927	1.213737	0.22289	.	.	ENSG00000130475	ENST00000252771;ENST00000389133;ENST00000539407	T;T;T	0.35421	1.31;1.31;1.31	4.34	-2.95	0.05564	.	1.032170	0.07662	N	0.933803	T	0.17408	0.0418	N	0.14661	0.345	0.09310	N	1	B;B	0.27765	0.118;0.188	B;B	0.25759	0.054;0.063	T	0.25984	-1.0116	10	0.42905	T	0.14	-0.4922	3.795	0.08736	0.1651:0.4212:0.0:0.4136	.	598;598	O14526;O14526-2	FCHO1_HUMAN;.	M	598	ENSP00000252771:L598M;ENSP00000373785:L598M;ENSP00000437978:L598M	ENSP00000252771:L598M	L	+	1	2	FCHO1	17753312	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	-0.236000	0.09003	-0.012000	0.14223	-0.608000	0.04076	TTG		0.622	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466946.2	NM_015122		18	61	0	0	0	0	18	61				
FCGBP	8857	broad.mit.edu	37	19	40392569	40392569	+	Silent	SNP	G	G	A	rs142183229	byFrequency	TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr19:40392569G>A	ENST00000221347.6	-	16	7942	c.7935C>T	c.(7933-7935)agC>agT	p.S2645S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2645	VWFD 6. {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)			GACACTCCTCGCTGGGGATAC	0.657																																						uc002omp.3		NA																	0				ovary(4)|skin(4)|central_nervous_system(1)	9						c.(7933-7935)AGC>AGT		Fc fragment of IgG binding protein precursor							70.0	76.0	74.0					19																	40392569		2195	4300	6495	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40392569G>A	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.7935C>T	19.37:g.40392569G>A							p.S2645S	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		16	7943	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		2645			VWFD 6.		O95784	Silent	SNP	ENST00000221347.6	37	c.7935C>T	CCDS12546.1																																																																																				0.657	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		16	50	0	0	0	0	16	50				
VN1R1	57191	broad.mit.edu	37	19	57967606	57967606	+	Silent	SNP	C	C	T	rs143275734		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr19:57967606C>T	ENST00000321039.3	-	1	248	c.249G>A	c.(247-249)acG>acA	p.T83T	AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	83					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		GAATCAAGTCCGTGGGTCTCA	0.423																																						uc002qos.1		NA																	0		p.T83R(1)		ovary(1)	1						c.(247-249)ACG>ACA		vomeronasal 1 receptor 1		C		0,4406		0,0,2203	46.0	43.0	44.0		249	0.9	0.0	19	dbSNP_134	44	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	VN1R1	NM_020633.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		83/354	57967606	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57191				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:57967606C>T	AF255342	CCDS12951.1	19q13.4	2012-08-22	2003-01-15		ENSG00000178201	ENSG00000178201		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	13548	protein-coding gene	gene with protein product		605234	"""vomeronasal olfactory receptor, (chromosome 19) subtype I, member 1"""	VNR19I1		10973240	Standard	NM_020633		Approved	V1RL1, ZVNR1, ZVNH1	uc002qos.2	Q9GZP7		ENST00000321039.3:c.249G>A	19.37:g.57967606C>T						ZNF547_uc002qpm.3_Intron	p.T83T	NM_020633	NP_065684	Q9GZP7	VN1R1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)	1	249	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)	83			Cytoplasmic (Potential).		B3KSV5|Q7Z5H8|Q7Z5H9	Silent	SNP	ENST00000321039.3	37	c.249G>A	CCDS12951.1																																																																																				0.423	VN1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466464.1	NM_020633		8	22	0	0	0	0	8	22				
GREB1	9687	broad.mit.edu	37	2	11767141	11767141	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr2:11767141C>T	ENST00000381486.2	+	25	4660	c.4360C>T	c.(4360-4362)Cgg>Tgg	p.R1454W	GREB1_ENST00000396123.1_Missense_Mutation_p.R452W|GREB1_ENST00000234142.5_Missense_Mutation_p.R1454W	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1454						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TCAGACGGCACGGATGAGACT	0.572																																					Ovarian(39;850 945 2785 23371 33093)	uc002rbk.1		NA																	0				ovary(1)	1						c.(4360-4362)CGG>TGG		growth regulation by estrogen in breast cancer 1							83.0	90.0	88.0					2																	11767141		2102	4233	6335	SO:0001583	missense	9687					integral to membrane		g.chr2:11767141C>T		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.4360C>T	2.37:g.11767141C>T	ENSP00000370896:p.Arg1454Trp					GREB1_uc002rbp.1_Missense_Mutation_p.R452W	p.R1454W	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	25	4660	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1454					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.4360C>T	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.976375	0.53720	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.66460	-0.21;-0.21;-0.21	5.58	3.75	0.43078	.	0.000000	0.85682	D	0.000000	T	0.78078	0.4227	L	0.59436	1.845	0.46609	D	0.999121	D	0.89917	1.0	D	0.76575	0.988	T	0.79291	-0.1864	10	0.72032	D	0.01	-36.7241	14.3038	0.66373	0.5147:0.4853:0.0:0.0	.	1454	Q4ZG55	GREB1_HUMAN	W	1454;1454;452	ENSP00000370896:R1454W;ENSP00000234142:R1454W;ENSP00000379429:R452W	ENSP00000234142:R1454W	R	+	1	2	GREB1	11684592	0.538000	0.26394	0.762000	0.31397	0.731000	0.41821	1.064000	0.30579	0.689000	0.31550	-0.182000	0.12963	CGG		0.572	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		8	42	0	0	0	0	8	42				
ATAD2B	54454	broad.mit.edu	37	2	24009046	24009046	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr2:24009046G>A	ENST00000238789.5	-	21	3167	c.2824C>T	c.(2824-2826)Cgt>Tgt	p.R942C	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	942						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATAATTGACGAGGTGGAGAA	0.453																																						uc002rek.3		NA																	0				central_nervous_system(1)	1						c.(2824-2826)CGT>TGT		ATPase family, AAA domain containing 2B							48.0	42.0	44.0					2																	24009046		1859	4102	5961	SO:0001583	missense	54454						ATP binding|nucleoside-triphosphatase activity	g.chr2:24009046G>A	AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"""ATPases / AAA-type"""	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.2824C>T	2.37:g.24009046G>A	ENSP00000238789:p.Arg942Cys					ATAD2B_uc010yki.1_RNA|ATAD2B_uc002rei.3_Missense_Mutation_p.R187C|ATAD2B_uc002rej.3_Missense_Mutation_p.R110C	p.R942C	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN			21	3118	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		942					B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	SNP	ENST00000238789.5	37	c.2824C>T	CCDS46227.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.260414	0.59431	.	.	ENSG00000119778	ENST00000238789;ENST00000546030	D	0.94793	-3.52	5.59	5.59	0.84812	Bromodomain (1);	0.766622	0.12543	N	0.459709	D	0.93897	0.8047	M	0.79475	2.455	0.80722	D	1	P;P	0.50443	0.892;0.935	B;B	0.34824	0.093;0.19	D	0.94636	0.7826	10	0.87932	D	0	.	19.9807	0.97324	0.0:0.0:1.0:0.0	.	942;942	Q9ULI0;Q9ULI0-2	ATD2B_HUMAN;.	C	942;110	ENSP00000238789:R942C	ENSP00000238789:R942C	R	-	1	0	ATAD2B	23862550	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.656000	0.54467	2.800000	0.96347	0.650000	0.86243	CGT		0.453	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552		3	8	0	0	0	0	3	8				
LRP2	4036	broad.mit.edu	37	2	170055331	170055331	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr2:170055331C>T	ENST00000263816.3	-	45	8828	c.8543G>A	c.(8542-8544)tGt>tAt	p.C2848Y		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2848	LDL-receptor class A 19. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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)"""	GTTATCTCCACAGTCATTGTC	0.378																																						uc002ues.2		NA																	0				ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(8542-8544)TGT>TAT		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						148.0	136.0	140.0					2																	170055331		2203	4300	6503	SO:0001583	missense	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.chr2:170055331C>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.8543G>A	2.37:g.170055331C>T	ENSP00000263816:p.Cys2848Tyr						p.C2848Y	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	45	8756	-			2848			LDL-receptor class A 19.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.8543G>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.038179	0.93630	.	.	ENSG00000081479	ENST00000263816	D	0.96459	-4.02	5.96	5.96	0.96718	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99155	0.9708	H	0.99211	4.47	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98678	1.0691	10	0.87932	D	0	.	20.4008	0.98991	0.0:1.0:0.0:0.0	.	2848	P98164	LRP2_HUMAN	Y	2848	ENSP00000263816:C2848Y	ENSP00000263816:C2848Y	C	-	2	0	LRP2	169763577	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.762000	0.85270	2.826000	0.97356	0.655000	0.94253	TGT		0.378	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		8	20	0	0	0	0	8	20				
MYO3B	140469	broad.mit.edu	37	2	171055899	171055899	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr2:171055899A>T	ENST00000408978.4	+	2	327	c.184A>T	c.(184-186)Agt>Tgt	p.S62C	MYO3B_ENST00000409044.3_Missense_Mutation_p.S62C|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000334231.6_Missense_Mutation_p.S71C	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	62	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GGATCCAGTCAGTGTAAGTAA	0.363																																						uc002ufy.2		NA																	0				lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19						c.(184-186)AGT>TGT		myosin IIIB isoform 2							66.0	65.0	65.0					2																	171055899		1875	4097	5972	SO:0001583	missense	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171055899A>T		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.184A>T	2.37:g.171055899A>T	ENSP00000386213:p.Ser62Cys					MYO3B_uc002ufv.2_Missense_Mutation_p.S49C|MYO3B_uc010fqb.1_Missense_Mutation_p.S49C|MYO3B_uc002ufz.2_Missense_Mutation_p.S62C|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002uga.2_Missense_Mutation_p.S49C	p.S62C	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN			2	327	+			62			Protein kinase.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	c.184A>T	CCDS42773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.6|23.6	4.438609|4.438609	0.83885|0.83885	.|.	.|.	ENSG00000071909|ENSG00000071909	ENST00000442690|ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	.|T;T;T;T	.|0.67345	.|-0.26;-0.26;-0.26;-0.26	5.55|5.55	5.55|5.55	0.83447|0.83447	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.041576	.|0.85682	.|D	.|0.000000	T|T	0.79417|0.79417	0.4442|0.4442	M|M	0.78223|0.78223	2.4|2.4	0.46725|0.46725	D|D	0.999175|0.999175	.|P;P;D;P	.|0.53885	.|0.94;0.917;0.963;0.949	.|P;P;P;P	.|0.58520	.|0.694;0.84;0.698;0.84	T|T	0.80806|0.80806	-0.1218|-0.1218	5|10	.|0.48119	.|T	.|0.1	.|.	15.6994|15.6994	0.77533|0.77533	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|62;62;62;62	.|Q8WXR4-5;B7ZM71;Q8WXR4-4;Q8WXR4	.|.;.;.;MYO3B_HUMAN	L|C	61|62;62;61;71;71	.|ENSP00000386497:S62C;ENSP00000386213:S62C;ENSP00000446237:S71C;ENSP00000335100:S71C	.|ENSP00000314213:S61C	Q|S	+|+	2|1	0|0	MYO3B|MYO3B	170764145|170764145	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.892000|0.892000	0.51952|0.51952	4.991000|4.991000	0.63883|0.63883	2.117000|2.117000	0.64856|0.64856	0.460000|0.460000	0.39030|0.39030	CAG|AGT		0.363	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			3	14	0	0	0	0	3	14				
TTN	7273	broad.mit.edu	37	2	179569648	179569648	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr2:179569648C>G	ENST00000591111.1	-	102	28923	c.28699G>C	c.(28699-28701)Gag>Cag	p.E9567Q	TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E9884Q|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E8640Q|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13652					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)			ACAAGTTCCTCAAATTCCTTT	0.308																																						uc010zfg.1		NA																	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.(25918-25920)GAG>CAG		titin isoform N2-A							145.0	142.0	143.0					2																	179569648		1819	4080	5899	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179569648C>G	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.28699G>C	2.37:g.179569648C>G	ENSP00000465570:p.Glu9567Gln					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E5301Q	p.E8640Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		101	26142	-			9567					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.25918G>C		.	.	.	.	.	.	.	.	.	.	C	13.53	2.264348	0.39995	.	.	ENSG00000155657	ENST00000342992	T	0.65549	-0.16	5.99	5.11	0.69529	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.58004	0.2092	L	0.43152	1.355	0.80722	D	1	B	0.13594	0.008	B	0.10450	0.005	T	0.56329	-0.7997	9	0.87932	D	0	.	17.2547	0.87052	0.0:0.8742:0.1258:0.0	.	9567	Q8WZ42	TITIN_HUMAN	Q	8640	ENSP00000343764:E8640Q	ENSP00000343764:E8640Q	E	-	1	0	TTN	179277893	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	7.088000	0.76901	1.528000	0.49103	-0.175000	0.13238	GAG		0.308	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		33	95	0	0	0	0	33	95				
TTN	7273	broad.mit.edu	37	2	179595244	179595244	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr2:179595244G>T	ENST00000591111.1	-	59	17289	c.17065C>A	c.(17065-17067)Ctg>Atg	p.L5689M	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L6006M|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.L4762M			Q8WZ42	TITIN_HUMAN	titin	12494	Ig-like 37.				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)			TTGACTGTCAGATGCCCACTG	0.378																																						uc010zfg.1		NA																	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.(14284-14286)CTG>ATG		titin isoform N2-A							111.0	106.0	107.0					2																	179595244		1918	4124	6042	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179595244G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.17065C>A	2.37:g.179595244G>T	ENSP00000465570:p.Leu5689Met					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.L1423M	p.L4762M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		58	14508	-			5689					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.14284C>A		.	.	.	.	.	.	.	.	.	.	G	7.587	0.669904	0.14776	.	.	ENSG00000155657	ENST00000342992	T	0.63913	-0.07	5.99	4.19	0.49359	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.82870	0.5131	H	0.96748	3.875	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84197	0.0448	9	0.87932	D	0	.	5.8365	0.18609	0.3441:0.0:0.6558:0.0	.	5689	Q8WZ42	TITIN_HUMAN	M	4762	ENSP00000343764:L4762M	ENSP00000343764:L4762M	L	-	1	2	TTN	179303489	0.964000	0.33143	0.588000	0.28705	0.907000	0.53573	1.755000	0.38379	1.540000	0.49301	0.655000	0.94253	CTG		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		29	86	1	0	1.22e-17	1.57e-17	29	86				
ITGAV	3685	broad.mit.edu	37	2	187506226	187506226	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr2:187506226A>T	ENST00000261023.3	+	12	1344	c.1070A>T	c.(1069-1071)cAg>cTg	p.Q357L	AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Missense_Mutation_p.Q311L|ITGAV_ENST00000374907.3_Missense_Mutation_p.Q321L	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	357					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	GGAGACTTCCAGACGACAAAG	0.493																																					Melanoma(58;108 1995 6081)	uc002upq.2		NA																	0				ovary(2)|kidney(1)|skin(1)	4						c.(1069-1071)CAG>CTG		integrin alpha-V isoform 1 precursor							200.0	197.0	198.0					2																	187506226		2203	4300	6503	SO:0001583	missense	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187506226A>T		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.1070A>T	2.37:g.187506226A>T	ENSP00000261023:p.Gln357Leu					ITGAV_uc010frs.2_Missense_Mutation_p.Q321L|ITGAV_uc010zfv.1_Missense_Mutation_p.Q311L	p.Q357L	NM_002210	NP_002201	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	12	1346	+			357			FG-GAP 5.|Extracellular (Potential).		A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Missense_Mutation	SNP	ENST00000261023.3	37	c.1070A>T	CCDS2292.1	.	.	.	.	.	.	.	.	.	.	A	13.94	2.388375	0.42308	.	.	ENSG00000138448	ENST00000544640;ENST00000261023;ENST00000374907;ENST00000433736	T;T;T	0.21543	2.0;2.0;2.0	5.56	3.2	0.36748	.	0.338322	0.35677	N	0.003058	T	0.17492	0.0420	L	0.45228	1.405	0.48236	D	0.999617	B;B;B	0.34214	0.001;0.442;0.001	B;B;B	0.36186	0.001;0.219;0.002	T	0.03784	-1.1004	10	0.42905	T	0.14	.	7.2585	0.26189	0.7993:0.0:0.0703:0.1304	.	311;321;357	E7EWZ6;P06756-2;P06756	.;.;ITAV_HUMAN	L	357;357;321;311	ENSP00000261023:Q357L;ENSP00000364042:Q321L;ENSP00000404291:Q311L	ENSP00000261023:Q357L	Q	+	2	0	ITGAV	187214471	1.000000	0.71417	0.983000	0.44433	0.688000	0.40055	3.511000	0.53400	0.938000	0.37419	-0.301000	0.09380	CAG		0.493	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		52	141	0	0	0	0	52	141				
DUSP28	285193	broad.mit.edu	37	2	241500794	241500794	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr2:241500794G>T	ENST00000405954.1	+	2	824	c.441G>T	c.(439-441)tgG>tgT	p.W147C	ANKMY1_ENST00000403283.1_5'Flank|ANKMY1_ENST00000462004.1_5'Flank|ANKMY1_ENST00000536462.1_5'Flank|DUSP28_ENST00000343217.2_Missense_Mutation_p.W147C|ANKMY1_ENST00000405002.1_5'Flank			Q4G0W2	DUS28_HUMAN	dual specificity phosphatase 28	147					JNK cascade (GO:0007254)|protein dephosphorylation (GO:0006470)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			lung(2)|upper_aerodigestive_tract(1)	3		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-31)|all cancers(36;5.56e-29)|OV - Ovarian serous cystadenocarcinoma(60;7.57e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.06e-06)|Lung(119;0.00164)|Colorectal(34;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.00802)|COAD - Colon adenocarcinoma(134;0.0311)		CGGGCTTCTGGTCTCAGCTCC	0.602																																					Pancreas(150;1630 2604 23402 46829)	uc002vzg.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(439-441)TGG>TGT		dual specificity phosphatase 28							36.0	42.0	40.0					2																	241500794		2202	4300	6502	SO:0001583	missense	285193						protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr2:241500794G>T	BC036198	CCDS33418.1	2q37.1	2011-06-09			ENSG00000188542	ENSG00000188542		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	33237	protein-coding gene	gene with protein product							Standard	XM_006712455		Approved	VHP, DUSP26	uc002vzg.3	Q4G0W2	OTTHUMG00000152310	ENST00000405954.1:c.441G>T	2.37:g.241500794G>T	ENSP00000385885:p.Trp147Cys					ANKMY1_uc002vzd.1_5'Flank|ANKMY1_uc010fze.1_5'Flank|ANKMY1_uc002vze.2_5'Flank|ANKMY1_uc002vzf.2_5'Flank|DUSP28_uc002vzh.2_Missense_Mutation_p.W147C	p.W147C	NM_001033575	NP_001028747	Q4G0W2	DUS28_HUMAN		Epithelial(32;2.16e-31)|all cancers(36;5.56e-29)|OV - Ovarian serous cystadenocarcinoma(60;7.57e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.06e-06)|Lung(119;0.00164)|Colorectal(34;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.00802)|COAD - Colon adenocarcinoma(134;0.0311)	2	1072	+		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	147						Missense_Mutation	SNP	ENST00000405954.1	37	c.441G>T	CCDS33418.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.395645	0.62177	.	.	ENSG00000188542	ENST00000343217;ENST00000405954	T;T	0.60424	0.19;0.19	3.51	3.51	0.40186	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.144876	0.48767	D	0.000171	T	0.76162	0.3949	M	0.85373	2.75	0.58432	D	0.999999	D	0.89917	1.0	D	0.75020	0.985	T	0.81072	-0.1098	10	0.87932	D	0	.	12.915	0.58200	0.0:0.0:1.0:0.0	.	147	Q4G0W2	DUS28_HUMAN	C	147	ENSP00000344235:W147C;ENSP00000385885:W147C	ENSP00000344235:W147C	W	+	3	0	DUSP28	241149467	1.000000	0.71417	1.000000	0.80357	0.704000	0.40688	5.760000	0.68793	1.980000	0.57719	0.557000	0.71058	TGG		0.602	DUSP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325814.1	NM_001033575		14	45	1	0	3.27e-08	4.08e-08	14	45				
ITCH	83737	broad.mit.edu	37	20	33033215	33033215	+	Silent	SNP	T	T	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr20:33033215T>C	ENST00000262650.6	+	12	1348	c.1212T>C	c.(1210-1212)cgT>cgC	p.R404R	ITCH_ENST00000374864.4_Silent_p.R363R|ITCH_ENST00000483727.1_3'UTR|ITCH_ENST00000535650.1_Silent_p.R253R			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	404	Required for interaction with FYN.				apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						AGCTACAGCGTAGTCAGCTTC	0.423																																						uc010geu.1		NA																	0				breast(4)|lung(1)|central_nervous_system(1)	6						c.(1210-1212)CGT>CGC		itchy homolog E3 ubiquitin protein ligase							125.0	109.0	114.0					20																	33033215		2203	4300	6503	SO:0001819	synonymous_variant	83737				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity	g.chr20:33033215T>C	AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"""itchy (mouse homolog) E3 ubiquitin protein ligase"", ""itchy E3 ubiquitin protein ligase homolog (mouse)"""			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.1212T>C	20.37:g.33033215T>C						ITCH_uc002xak.2_Silent_p.R363R|ITCH_uc010zuj.1_Silent_p.R253R	p.R404R	NM_031483	NP_113671	Q96J02	ITCH_HUMAN			12	1404	+			404			Required for interaction with FYN.		A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Silent	SNP	ENST00000262650.6	37	c.1212T>C	CCDS58768.1																																																																																				0.423	ITCH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078783.2			27	55	0	0	0	0	27	55				
PTPRT	11122	broad.mit.edu	37	20	40790072	40790072	+	Missense_Mutation	SNP	C	C	T	rs61753667		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr20:40790072C>T	ENST00000373187.1	-	17	2601	c.2602G>A	c.(2602-2604)Gcc>Acc	p.A868T	PTPRT_ENST00000373198.4_Missense_Mutation_p.A887T|PTPRT_ENST00000373184.1_Missense_Mutation_p.A858T|PTPRT_ENST00000373190.1_Missense_Mutation_p.A867T|PTPRT_ENST00000373201.1_Missense_Mutation_p.A858T|PTPRT_ENST00000356100.2_Missense_Mutation_p.A877T|PTPRT_ENST00000373193.3_Missense_Mutation_p.A871T			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	868					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ACCCGGATGGCGGGTTGGAAC	0.622																																						uc002xkg.2		NA																	0				skin(8)|ovary(7)|lung(5)	20						c.(2602-2604)GCC>ACC		protein tyrosine phosphatase, receptor type, T							73.0	79.0	77.0					20																	40790072		2075	4238	6313	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40790072C>T	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.2602G>A	20.37:g.40790072C>T	ENSP00000362283:p.Ala868Thr					PTPRT_uc010ggj.2_Missense_Mutation_p.A887T|PTPRT_uc010ggi.2_Missense_Mutation_p.A71T	p.A868T	NM_007050	NP_008981	O14522	PTPRT_HUMAN			17	2786	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	868			Cytoplasmic (Potential).		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.2602G>A	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	C	35	5.483163	0.96307	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.38887	1.11;1.15;1.14;1.15;1.13;1.13;1.15	5.45	5.45	0.79879	.	0.108371	0.64402	D	0.000007	T	0.67173	0.2865	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.993	T	0.70407	-0.4880	10	0.87932	D	0	.	19.2928	0.94108	0.0:1.0:0.0:0.0	rs61753667	890;868	O14522-1;O14522	.;PTPRT_HUMAN	T	867;868;871;877;890;858;858	ENSP00000362286:A867T;ENSP00000362283:A868T;ENSP00000362289:A871T;ENSP00000348408:A877T;ENSP00000362294:A890T;ENSP00000362280:A858T;ENSP00000362297:A858T	ENSP00000348408:A877T	A	-	1	0	PTPRT	40223486	1.000000	0.71417	0.811000	0.32455	0.920000	0.55202	7.800000	0.85949	2.544000	0.85801	0.650000	0.86243	GCC		0.622	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			24	98	0	0	0	0	24	98				
SLC12A5	57468	broad.mit.edu	37	20	44676660	44676660	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr20:44676660C>T	ENST00000454036.2	+	16	2066	c.2017C>T	c.(2017-2019)Ctc>Ttc	p.L673F	SLC12A5_ENST00000243964.3_Missense_Mutation_p.L650F	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	673					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	AGGTCTGTCTCTCAGTGCGGC	0.607																																						uc010zxl.1		NA																	0				ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(2017-2019)CTC>TTC		solute carrier family 12 (potassium-chloride	Bumetanide(DB00887)|Potassium Chloride(DB00761)						86.0	67.0	73.0					20																	44676660		2203	4300	6503	SO:0001583	missense	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44676660C>T	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.2017C>T	20.37:g.44676660C>T	ENSP00000387694:p.Leu673Phe					SLC12A5_uc010zxm.1_RNA|SLC12A5_uc002xrb.2_Missense_Mutation_p.L650F	p.L673F	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN			16	2093	+		Myeloproliferative disorder(115;0.0122)	673					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	c.2017C>T	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.524780	0.64747	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.98617	-5.03;-5.03	3.92	2.98	0.34508	Amino acid permease domain (1);	0.157335	0.43260	D	0.000591	D	0.98015	0.9346	L	0.42632	1.34	0.80722	D	1	D;P	0.60575	0.988;0.909	D;P	0.65323	0.934;0.756	D	0.96765	0.9564	10	0.39692	T	0.17	.	10.2176	0.43177	0.0:0.9001:0.0:0.0999	.	673;650	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	F	673;650	ENSP00000387694:L673F;ENSP00000243964:L650F	ENSP00000243964:L650F	L	+	1	0	SLC12A5	44110067	1.000000	0.71417	0.999000	0.59377	0.521000	0.34408	7.592000	0.82676	0.841000	0.35020	0.455000	0.32223	CTC		0.607	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			5	35	0	0	0	0	5	35				
CTCFL	140690	broad.mit.edu	37	20	56098320	56098320	+	Silent	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr20:56098320C>T	ENST00000608263.1	-	2	1219	c.558G>A	c.(556-558)caG>caA	p.Q186Q	CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000371196.2_Silent_p.Q186Q|CTCFL_ENST00000243914.3_Silent_p.Q186Q|CTCFL_ENST00000481655.2_Silent_p.Q186Q|CTCFL_ENST00000422869.2_Silent_p.Q186Q|CTCFL_ENST00000423479.3_Silent_p.Q186Q|CTCFL_ENST00000539382.1_5'UTR|CTCFL_ENST00000608158.1_Silent_p.Q186Q|CTCFL_ENST00000609232.1_Silent_p.Q186Q|CTCFL_ENST00000608440.1_Silent_p.Q186Q|CTCFL_ENST00000432255.2_Silent_p.Q186Q|CTCFL_ENST00000608425.1_Silent_p.Q186Q|CTCFL_ENST00000608903.1_Intron|CTCFL_ENST00000433949.3_5'UTR|CTCFL_ENST00000429804.3_Silent_p.Q186Q	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	186					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			GGTTCTTCTCCTGCTCTTCCT	0.353																																						uc010gix.1		NA																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(556-558)CAG>CAA		CCCTC-binding factor-like protein							108.0	105.0	106.0					20																	56098320		2202	4300	6502	SO:0001819	synonymous_variant	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56098320C>T		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.558G>A	20.37:g.56098320C>T						CTCFL_uc010giw.1_Silent_p.Q186Q|CTCFL_uc002xym.2_Silent_p.Q186Q|CTCFL_uc010giz.1_Intron|CTCFL_uc010giy.1_Intron|CTCFL_uc010gja.1_Silent_p.Q186Q|CTCFL_uc010gjb.1_Silent_p.Q186Q|CTCFL_uc010gjc.1_Silent_p.Q186Q|CTCFL_uc010gjd.1_Silent_p.Q186Q|CTCFL_uc010gje.2_Silent_p.Q186Q|CTCFL_uc010gjf.2_5'UTR|CTCFL_uc010gjg.2_Intron|CTCFL_uc010gjh.1_Silent_p.Q186Q|CTCFL_uc010gji.1_5'UTR|CTCFL_uc010gjj.1_Silent_p.Q186Q|CTCFL_uc010gjk.1_Silent_p.Q186Q|CTCFL_uc010gjl.1_Silent_p.Q186Q	p.Q186Q	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		2	1220	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		186					A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Silent	SNP	ENST00000608263.1	37	c.558G>A	CCDS13459.1																																																																																				0.353	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		13	101	0	0	0	0	13	101				
SLC16A8	23539	broad.mit.edu	37	22	38477107	38477107	+	Missense_Mutation	SNP	G	G	T	rs543616730		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr22:38477107G>T	ENST00000320521.5	-	4	1046	c.938C>A	c.(937-939)gCg>gAg	p.A313E	SLC16A8_ENST00000469516.1_Intron	NM_013356.2	NP_037488.2	O95907	MOT3_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 8	313					blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|lactate transmembrane transport (GO:0035873)|lactate transport (GO:0015727)|leukocyte migration (GO:0050900)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			kidney(1)|large_intestine(1)|prostate(1)	3	Melanoma(58;0.045)				Pyruvic acid(DB00119)	CCGCAGACGCGCCAGGCCCGC	0.741																																						uc003auu.2		NA																	0					0						c.(937-939)GCG>GAG		solute carrier family 16, member 8	Pyruvic acid(DB00119)						6.0	8.0	8.0					22																	38477107		2037	4032	6069	SO:0001583	missense	23539				blood coagulation|leukocyte migration|pyruvate metabolic process	integral to plasma membrane|membrane fraction	lactate transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr22:38477107G>T	AF132610	CCDS13966.1	22q12.3-q13.2	2013-07-18	2013-07-18		ENSG00000100156	ENSG00000100156		"""Solute carriers"""	16270	protein-coding gene	gene with protein product	"""monocarboxylate transporter 3"""	610409	"""solute carrier 16 (monocarboxylic acid transporters), member 8"""			10493836	Standard	NM_013356		Approved	MCT3, REMP	uc003auu.3	O95907	OTTHUMG00000151196	ENST00000320521.5:c.938C>A	22.37:g.38477107G>T	ENSP00000321735:p.Ala313Glu						p.A313E	NM_013356	NP_037488	O95907	MOT3_HUMAN			4	1068	-	Melanoma(58;0.045)		313			Cytoplasmic (Potential).		Q9UBE2	Missense_Mutation	SNP	ENST00000320521.5	37	c.938C>A	CCDS13966.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.583278	0.46006	.	.	ENSG00000100156	ENST00000320521	T	0.57436	0.4	3.44	0.903	0.19296	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.013620	0.07924	N	0.976378	T	0.31827	0.0809	N	0.04090	-0.28	0.24470	N	0.994395	B	0.30709	0.291	B	0.36766	0.232	T	0.38222	-0.9671	10	0.62326	D	0.03	.	5.437	0.16486	0.0:0.2968:0.3369:0.3663	.	313	O95907	MOT3_HUMAN	E	313	ENSP00000321735:A313E	ENSP00000321735:A313E	A	-	2	0	SLC16A8	36807053	0.998000	0.40836	0.999000	0.59377	0.848000	0.48234	1.100000	0.31025	0.697000	0.31718	0.313000	0.20887	GCG		0.741	SLC16A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321724.1	NM_013356		4	8	1	0	2.56e-06	3.1e-06	4	8				
PHF21B	112885	broad.mit.edu	37	22	45289390	45289390	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr22:45289390G>A	ENST00000313237.5	-	7	1057	c.907C>T	c.(907-909)Cgg>Tgg	p.R303W	PHF21B_ENST00000396103.3_Missense_Mutation_p.R261W|PHF21B_ENST00000404079.2_Missense_Mutation_p.R249W|PHF21B_ENST00000447824.3_Missense_Mutation_p.R249W|PHF21B_ENST00000403565.1_Missense_Mutation_p.R99W	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	303							zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		CTTCTCTTCCGCTCCTGTCGC	0.632																																						uc003bfn.2		NA																	0				ovary(2)|skin(1)	3						c.(907-909)CGG>TGG		PHD finger protein 21B isoform 1							134.0	96.0	109.0					22																	45289390		2203	4300	6503	SO:0001583	missense	112885						zinc ion binding	g.chr22:45289390G>A	AK091480	CCDS14061.1, CCDS56234.1, CCDS63504.1	22q13.31	2013-01-28			ENSG00000056487	ENSG00000056487		"""Zinc fingers, PHD-type"""	25161	protein-coding gene	gene with protein product			"""PHD finger protein 4"""	PHF4		12477932	Standard	NM_138415		Approved	BHC80L, FLJ34161	uc011aql.2	Q96EK2	OTTHUMG00000151199	ENST00000313237.5:c.907C>T	22.37:g.45289390G>A	ENSP00000324403:p.Arg303Trp					PHF21B_uc003bfm.2_Missense_Mutation_p.R99W|PHF21B_uc011aqk.1_Missense_Mutation_p.R249W|PHF21B_uc011aql.1_Missense_Mutation_p.R261W|PHF21B_uc011aqm.1_Missense_Mutation_p.R249W	p.R303W	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)	7	1058	-		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)	303					B0QYW3|B0QYW4|B3KRU4|B7Z4F8|Q5TFL2|Q6ICC0	Missense_Mutation	SNP	ENST00000313237.5	37	c.907C>T	CCDS14061.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.745035	0.69418	.	.	ENSG00000056487	ENST00000403565;ENST00000313237;ENST00000396103;ENST00000404079;ENST00000447824;ENST00000414269	T;T;T;T;T;T	0.61742	0.08;0.08;0.08;0.08;0.08;0.08	4.73	2.44	0.29823	.	0.000000	0.64402	D	0.000007	T	0.70605	0.3243	L	0.57536	1.79	0.44221	D	0.997053	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;1.0;0.999;0.999;0.999	T	0.74808	-0.3539	10	0.87932	D	0	-9.2827	13.8548	0.63519	0.0:0.0:0.6409:0.3591	.	249;261;249;303;99	B7Z657;Q96EK2-3;B7Z4F8;Q96EK2;B1AHC5	.;.;.;PF21B_HUMAN;.	W	99;303;261;249;249;99	ENSP00000385053:R99W;ENSP00000324403:R303W;ENSP00000379410:R261W;ENSP00000385105:R249W;ENSP00000388619:R249W;ENSP00000401091:R99W	ENSP00000324403:R303W	R	-	1	2	PHF21B	43668054	1.000000	0.71417	0.997000	0.53966	0.956000	0.61745	3.231000	0.51294	1.084000	0.41184	0.655000	0.94253	CGG		0.632	PHF21B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321731.2	NM_138415		4	8	0	0	0	0	4	8				
DPPA2	151871	broad.mit.edu	37	3	109027049	109027049	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr3:109027049T>C	ENST00000478945.1	-	6	734	c.488A>G	c.(487-489)tAt>tGt	p.Y163C		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	163					lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATTCATCTCATAACTTCTCTG	0.468																																						uc003dxo.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(487-489)TAT>TGT		developmental pluripotency associated 2							190.0	165.0	174.0					3																	109027049		2203	4300	6503	SO:0001583	missense	151871					nucleus	nucleic acid binding	g.chr3:109027049T>C	AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"""cancer/testis antigen 100"""	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.488A>G	3.37:g.109027049T>C	ENSP00000417710:p.Tyr163Cys						p.Y163C	NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN			6	735	-			163					Q8WVF0	Missense_Mutation	SNP	ENST00000478945.1	37	c.488A>G	CCDS2956.1	.	.	.	.	.	.	.	.	.	.	T	3.866	-0.028810	0.07589	.	.	ENSG00000163530	ENST00000478945	T	0.44083	0.93	3.94	-5.47	0.02600	.	1.792170	0.02514	N	0.091835	T	0.11452	0.0279	N	0.00729	-1.24	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.08994	-1.0695	10	0.29301	T	0.29	3.4172	1.0116	0.01498	0.252:0.1899:0.1242:0.4338	.	163	Q7Z7J5	DPPA2_HUMAN	C	163	ENSP00000417710:Y163C	ENSP00000417710:Y163C	Y	-	2	0	DPPA2	110509739	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.067000	0.00620	-1.381000	0.02112	-2.468000	0.00203	TAT		0.468	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353938.1	NM_138815		19	71	0	0	0	0	19	71				
WDR49	151790	broad.mit.edu	37	3	167223119	167223119	+	Missense_Mutation	SNP	C	C	T	rs192587330	byFrequency	TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr3:167223119C>T	ENST00000308378.3	-	13	2109	c.1804G>A	c.(1804-1806)Ggt>Agt	p.G602S	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Missense_Mutation_p.G567S|WDR49_ENST00000476376.1_Missense_Mutation_p.G427S	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	602										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						ATAACTTCACCATAATAAGGT	0.259													C|||	2	0.000399361	0.0	0.0	5008	,	,		15068	0.002		0.0	False		,,,				2504	0.0					uc003fev.1		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(1804-1806)GGT>AGT		WD repeat domain 49							52.0	56.0	55.0					3																	167223119		2198	4282	6480	SO:0001583	missense	151790							g.chr3:167223119C>T	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.1804G>A	3.37:g.167223119C>T	ENSP00000311343:p.Gly602Ser					WDR49_uc003feu.1_Missense_Mutation_p.G427S|WDR49_uc011bpd.1_Missense_Mutation_p.G567S|WDR49_uc003few.1_Intron	p.G602S	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN			13	2110	-			602					Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	c.1804G>A	CCDS3201.1	2|2	9.157509157509158E-4|9.157509157509158E-4	0|0	0.0|0.0	0|0	0.0|0.0	2|2	0.0034965034965034965|0.0034965034965034965	0|0	0.0|0.0	C|C	0.309|0.309	-0.969056|-0.969056	0.02232|0.02232	.|.	.|.	ENSG00000174776|ENSG00000174776	ENST00000308378;ENST00000476376;ENST00000453925|ENST00000472600	T;T;T|.	0.53206|.	0.63;1.92;1.0|.	4.82|4.82	1.95|1.95	0.26073|0.26073	.|.	1.444560|.	0.04152|.	N|.	0.321490|.	T|T	0.25827|0.25827	0.0629|0.0629	L|L	0.33485|0.33485	1.01|1.01	0.09310|0.09310	N|N	1|1	B;B|.	0.20550|.	0.046;0.01|.	B;B|.	0.13407|.	0.009;0.002|.	T|T	0.22208|0.22208	-1.0223|-1.0223	10|5	0.15499|.	T|.	0.54|.	.|.	4.1647|4.1647	0.10301|0.10301	0.1836:0.6187:0.0:0.1977|0.1836:0.6187:0.0:0.1977	.|.	567;602|.	E7EQK3;Q8IV35|.	.;WDR49_HUMAN|.	S|I	602;427;567|578	ENSP00000311343:G602S;ENSP00000420508:G427S;ENSP00000410863:G567S|.	ENSP00000311343:G602S|.	G|M	-|-	1|3	0|0	WDR49|WDR49	168705813|168705813	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.027000|0.027000	0.11550|0.11550	-0.414000|-0.414000	0.07114|0.07114	0.162000|0.162000	0.19483|0.19483	0.655000|0.655000	0.94253|0.94253	GGT|ATG		0.259	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		4	24	0	0	0	0	4	24				
UVSSA	57654	broad.mit.edu	37	4	1360207	1360207	+	Missense_Mutation	SNP	C	C	T	rs201394250		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr4:1360207C>T	ENST00000389851.4	+	8	1723	c.1276C>T	c.(1276-1278)Cgg>Tgg	p.R426W	UVSSA_ENST00000507531.1_Missense_Mutation_p.R426W|UVSSA_ENST00000511216.1_Missense_Mutation_p.R426W|UVSSA_ENST00000511563.1_5'UTR	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	426					protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)										CGACCACTTGCGGCCTGAGTA	0.642																																						uc003gde.3		NA																	0					0						c.(1276-1278)CGG>TGG		hypothetical protein LOC57654		C	TRP/ARG	0,4406		0,0,2203	117.0	109.0	112.0		1276	2.5	0.0	4		112	3,8597	3.0+/-9.4	0,3,4297	yes	missense	KIAA1530	NM_020894.2	101	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	426/710	1360207	3,13003	2203	4300	6503	SO:0001583	missense	57654							g.chr4:1360207C>T	BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945			29304	protein-coding gene	gene with protein product		614632	"""KIAA1530"""	KIAA1530		10819331, 22466610, 22466611, 22466612	Standard	NM_020894		Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.1276C>T	4.37:g.1360207C>T	ENSP00000374501:p.Arg426Trp					KIAA1530_uc010ibv.2_5'UTR	p.R426W	NM_020894	NP_065945	Q2YD98	K1530_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0138)		8	1723	+			426					A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Missense_Mutation	SNP	ENST00000389851.4	37	c.1276C>T	CCDS33938.1	.	.	.	.	.	.	.	.	.	.	C	8.950	0.967893	0.18659	0.0	3.49E-4	ENSG00000163945	ENST00000511216;ENST00000389851;ENST00000507531	T;T;T	0.36878	1.23;1.23;1.23	5.16	2.5	0.30297	.	0.253913	0.39985	N	0.001202	T	0.32852	0.0843	M	0.75264	2.295	0.58432	D	0.999992	P	0.40050	0.7	B	0.31191	0.125	T	0.16837	-1.0389	10	0.87932	D	0	.	9.8779	0.41216	0.0:0.7778:0.0:0.2222	.	426	Q2YD98	K1530_HUMAN	W	426	ENSP00000425130:R426W;ENSP00000374501:R426W;ENSP00000421741:R426W	ENSP00000374501:R426W	R	+	1	2	KIAA1530	1350207	0.992000	0.36948	0.001000	0.08648	0.003000	0.03518	2.037000	0.41174	0.191000	0.20236	0.563000	0.77884	CGG		0.642	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359480.1	NM_020894		57	156	0	0	0	0	57	156				
HTT	3064	broad.mit.edu	37	4	3131671	3131672	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr4:3131671_3131672CC>AG	ENST00000355072.5	+	13	1909_1910	c.1764_1765CC>AG	c.(1762-1767)aaCCag>aaAGag	p.588_589NQ>KE		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	588		Cleavage; by apopain. {ECO:0000255}.			anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)	p.N588K(1)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GTACCGACAACCAGTATTTGGG	0.505																																						uc011bvq.1		NA																	1	Substitution - Missense(1)		large_intestine(1)	skin(2)|ovary(1)|lung(1)	4						c.(1768-1773)AACCAG>AAAGAG		huntingtin																																				SO:0001583	missense	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3131671_3131672CC>AG	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	Exception_encountered	4.37:g.3131671_3131672delinsAG	ENSP00000347184:p.N588_Q589delinsKE						p.590_591NQ>KE	NM_002111	NP_002102	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	14	1915_1916	+		all_epithelial(65;0.18)	588_589					Q9UQB7	Missense_Mutation	DNP	ENST00000355072.5	37	c.1770_1771CC>AG	CCDS43206.1																																																																																				0.505	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		11	145	0	0	0	0	11	145				
SORCS2	57537	broad.mit.edu	37	4	7735048	7735048	+	Splice_Site	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr4:7735048G>A	ENST00000507866.2	+	24	3217		c.e24-1		SORCS2_ENST00000329016.9_Splice_Site	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2						neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TGTGCTTGCAGAGGCTCGCCG	0.652																																						uc003gkb.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.e24-1		VPS10 domain receptor protein SORCS 2 precursor							9.0	12.0	11.0					4																	7735048		1942	4123	6065	SO:0001630	splice_region_variant	57537					integral to membrane	neuropeptide receptor activity	g.chr4:7735048G>A	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.3109-1G>A	4.37:g.7735048G>A						SORCS2_uc011bwi.1_Splice_Site_p.R865_splice	p.R1037_splice	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN			24	3109	+								Q9P2L7	Splice_Site	SNP	ENST00000507866.2	37	c.3109_splice	CCDS47008.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.474703	0.26511	.	.	ENSG00000184985	ENST00000507866;ENST00000329016	.	.	.	3.97	3.97	0.46021	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5902	0.61955	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SORCS2	7785948	0.987000	0.35691	0.810000	0.32431	0.176000	0.22953	0.971000	0.29396	2.053000	0.61076	0.508000	0.49915	.		0.652	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777	Intron	2	2	0	0	0	0	2	2				
ZNF827	152485	broad.mit.edu	37	4	146824264	146824264	+	Silent	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr4:146824264C>T	ENST00000508784.1	-	2	374	c.147G>A	c.(145-147)caG>caA	p.Q49Q	ZNF827_ENST00000379448.4_Silent_p.Q49Q|ZNF827_ENST00000513320.1_Intron			Q17R98	ZN827_HUMAN	zinc finger protein 827	49					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					TATAGTTCTCCTGGACTTCCC	0.562																																						uc003ikn.2		NA																	0					0						c.(145-147)CAG>CAA		zinc finger protein 827							88.0	90.0	90.0					4																	146824264		2203	4300	6503	SO:0001819	synonymous_variant	152485				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:146824264C>T	AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.147G>A	4.37:g.146824264C>T						ZNF827_uc003ikm.2_Silent_p.Q49Q|ZNF827_uc010iox.2_Intron	p.Q49Q	NM_178835	NP_849157	Q17R98	ZN827_HUMAN			2	195	-	all_hematologic(180;0.151)		49					B7ZL52|Q7Z4S7|Q8N279	Silent	SNP	ENST00000508784.1	37	c.147G>A																																																																																					0.562	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835		29	78	0	0	0	0	29	78				
MYO10	4651	broad.mit.edu	37	5	16701457	16701457	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr5:16701457G>C	ENST00000513610.1	-	25	3501	c.3047C>G	c.(3046-3048)tCa>tGa	p.S1016*	MYO10_ENST00000512061.1_5'Flank|MYO10_ENST00000505695.1_Nonsense_Mutation_p.S355*|MYO10_ENST00000515803.1_Nonsense_Mutation_p.S355*|MYO10_ENST00000427430.2_Nonsense_Mutation_p.S373*|MYO10_ENST00000274203.9_Nonsense_Mutation_p.S373*	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1016					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TCGCTGGTCTGAGTGGCCGTG	0.627																																						uc003jft.3		NA																	0				ovary(2)|pancreas(1)	3						c.(3046-3048)TCA>TGA		myosin X							46.0	52.0	50.0					5																	16701457		2174	4267	6441	SO:0001587	stop_gained	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16701457G>C	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.3047C>G	5.37:g.16701457G>C	ENSP00000421280:p.Ser1016*					MYO10_uc011cnc.1_5'Flank|MYO10_uc011cnd.1_Nonsense_Mutation_p.S373*|MYO10_uc011cne.1_Nonsense_Mutation_p.S373*|MYO10_uc010itx.2_Nonsense_Mutation_p.S639*	p.S1016*	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN			25	3515	-			1016					A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Nonsense_Mutation	SNP	ENST00000513610.1	37	c.3047C>G	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	G	38	7.054291	0.98032	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	.	.	.	4.74	4.74	0.60224	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	17.744	0.88414	0.0:0.0:1.0:0.0	.	.	.	.	X	1016;355;373;355;373	.	ENSP00000274203:S373X	S	-	2	0	MYO10	16754457	1.000000	0.71417	0.983000	0.44433	0.649000	0.38597	7.628000	0.83189	2.180000	0.69256	0.462000	0.41574	TCA		0.627	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		13	34	0	0	0	0	13	34				
SLCO6A1	133482	broad.mit.edu	37	5	101834432	101834432	+	Silent	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr5:101834432C>T	ENST00000506729.1	-	1	288	c.117G>A	c.(115-117)ccG>ccA	p.P39P	RP11-58B2.1_ENST00000502494.1_RNA|SLCO6A1_ENST00000379807.3_Silent_p.P39P|SLCO6A1_ENST00000389019.3_Silent_p.P39P|SLCO6A1_ENST00000514551.1_5'Flank|SLCO6A1_ENST00000513675.1_Silent_p.P39P|SLCO6A1_ENST00000379810.1_Silent_p.P39P			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TCGAGGACTTCGGGGTTCCCT	0.592																																						uc003knn.2		NA																	0				ovary(3)|skin(3)|central_nervous_system(1)	7						c.(115-117)CCG>CCA		solute carrier organic anion transporter family,							117.0	133.0	128.0					5																	101834432		2203	4300	6503	SO:0001819	synonymous_variant	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101834432C>T	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.117G>A	5.37:g.101834432C>T						SLCO6A1_uc003kno.2_Silent_p.P39P|SLCO6A1_uc003knp.2_Silent_p.P39P|SLCO6A1_uc003knq.2_Silent_p.P39P	p.P39P	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	1	289	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	39			Cytoplasmic (Potential).		A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Silent	SNP	ENST00000506729.1	37	c.117G>A	CCDS34206.1																																																																																				0.592	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		104	57	0	0	0	0	104	57				
IL9	3578	broad.mit.edu	37	5	135231263	135231263	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr5:135231263T>G	ENST00000274520.1	-	2	141	c.131A>C	c.(130-132)aAg>aCg	p.K44T	GS1-39E22.2_ENST00000522973.1_RNA	NM_000590.1	NP_000581.1	P15248	IL9_HUMAN	interleukin 9	44					immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-5 biosynthetic process (GO:0045407)	extracellular space (GO:0005615)				large_intestine(3)|lung(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCAGTGGCACTTGGAAGCTGG	0.378																																						uc003lbb.1		NA																	0					0						c.(130-132)AAG>ACG		interleukin 9 precursor							78.0	85.0	83.0					5																	135231263		2203	4300	6503	SO:0001583	missense	3578				immune response|inflammatory response|positive regulation of cell proliferation|positive regulation of interleukin-5 biosynthetic process	extracellular space	cytokine activity|cytokine receptor binding|growth factor activity	g.chr5:135231263T>G	S63356	CCDS4189.1	5q31-q35	2008-07-18			ENSG00000145839	ENSG00000145839		"""Interleukins and interleukin receptors"""	6029	protein-coding gene	gene with protein product	"""p40 T-cell and mast cell growth factor"", ""T-cell growth factor p40"", ""p40 cytokine"", ""homolog of mouse T cell and mast cell growth factor 40"""	146931				8379467	Standard	NM_000590		Approved	IL-9, HP40, P40	uc003lbb.1	P15248	OTTHUMG00000129147	ENST00000274520.1:c.131A>C	5.37:g.135231263T>G	ENSP00000274520:p.Lys44Thr						p.K44T	NM_000590	NP_000581	P15248	IL9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	142	-			44						Missense_Mutation	SNP	ENST00000274520.1	37	c.131A>C	CCDS4189.1	.	.	.	.	.	.	.	.	.	.	T	14.02	2.410311	0.42715	.	.	ENSG00000145839	ENST00000274520	T	0.48836	0.8	4.98	-8.44	0.00950	.	0.641465	0.14305	N	0.328039	T	0.34483	0.0899	L	0.59436	1.845	0.09310	N	1	B	0.14012	0.009	B	0.15052	0.012	T	0.34775	-0.9815	10	0.66056	D	0.02	-1.6548	8.4437	0.32830	0.0:0.2489:0.5467:0.2044	.	44	P15248	IL9_HUMAN	T	44	ENSP00000274520:K44T	ENSP00000274520:K44T	K	-	2	0	IL9	135259162	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.345000	0.07770	-1.024000	0.03338	-0.290000	0.09829	AAG		0.378	IL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251210.1	NM_000590		18	79	0	0	0	0	18	79				
GRIA1	2890	broad.mit.edu	37	5	153026582	153026582	+	Silent	SNP	C	C	T	rs138090704		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr5:153026582C>T	ENST00000285900.5	+	3	658	c.315C>T	c.(313-315)caC>caT	p.H105H	GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000448073.4_Silent_p.H115H|GRIA1_ENST00000340592.5_Silent_p.H105H|GRIA1_ENST00000521843.2_Silent_p.H36H|GRIA1_ENST00000518142.1_Intron|GRIA1_ENST00000518783.1_Silent_p.H115H	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	105					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	GGGCCCTCCACGTCTGCTTCA	0.502																																						uc003lva.3		NA																	0				ovary(4)|skin(2)	6						c.(313-315)CAC>CAT		glutamate receptor, ionotropic, AMPA 1 isoform	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	C	,	1,4405	2.1+/-5.4	0,1,2202	170.0	154.0	159.0		315,315	-10.0	0.6	5	dbSNP_134	159	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	GRIA1	NM_000827.3,NM_001114183.1	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	105/907,105/907	153026582	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2890				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153026582C>T		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.315C>T	5.37:g.153026582C>T						GRIA1_uc003luy.3_Silent_p.H105H|GRIA1_uc003luz.3_Silent_p.H10H|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Intron|GRIA1_uc011dcx.1_Silent_p.H36H|GRIA1_uc011dcy.1_Silent_p.H115H|GRIA1_uc011dcz.1_Silent_p.H115H|GRIA1_uc010jia.1_Silent_p.H85H	p.H105H	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		3	680	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	105			Extracellular (Potential).		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Silent	SNP	ENST00000285900.5	37	c.315C>T	CCDS4322.1																																																																																				0.502	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			47	55	0	0	0	0	47	55				
IL12B	3593	broad.mit.edu	37	5	158749490	158749490	+	Missense_Mutation	SNP	C	C	T	rs139186048		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr5:158749490C>T	ENST00000231228.2	-	4	849	c.394G>A	c.(394-396)Gag>Aag	p.E132K		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B	132					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|interferon-gamma biosynthetic process (GO:0042095)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of cell adhesion (GO:0045785)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of NK T cell proliferation (GO:0051142)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to UV-B (GO:0010224)|sensory perception of pain (GO:0019233)|sexual reproduction (GO:0019953)|T-helper 1 type immune response (GO:0042088)|T-helper cell differentiation (GO:0042093)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|interleukin-12 complex (GO:0043514)|interleukin-23 complex (GO:0070743)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)|identical protein binding (GO:0042802)|interleukin-12 alpha subunit binding (GO:0042164)|interleukin-12 receptor binding (GO:0005143)|protein heterodimerization activity (GO:0046982)			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCTTGGCCTCGCATCTTAGA	0.378																																						uc003lxr.1		NA																	0					0						c.(394-396)GAG>AAG		interleukin 12B precursor		C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	92.0	91.0	91.0		394	5.0	0.9	5	dbSNP_134	91	0,8600		0,0,4300	no	missense	IL12B	NM_002187.2	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	132/329	158749490	1,13005	2203	4300	6503	SO:0001583	missense	3593				cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity	g.chr5:158749490C>T	M65290	CCDS4346.1	5q31.1-q33.1	2014-09-17	2014-04-04		ENSG00000113302	ENSG00000113302		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5970	protein-coding gene	gene with protein product	"""natural killer cell stimulatory factor-2"", ""cytotoxic lymphocyte maturation factor 2, p40"", ""interleukin 12, p40"", ""natural killer cell stimulatory factor, 40 kD subunit"", ""interleukin-12 beta chain"", ""IL12, subunit p40"""	161561	"""interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)"""	NKSF2		1673147	Standard	NM_002187		Approved	CLMF, IL-12B, NKSF, CLMF2	uc003lxr.1	P29460	OTTHUMG00000130307	ENST00000231228.2:c.394G>A	5.37:g.158749490C>T	ENSP00000231228:p.Glu132Lys						p.E132K	NM_002187	NP_002178	P29460	IL12B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		4	436	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	132						Missense_Mutation	SNP	ENST00000231228.2	37	c.394G>A	CCDS4346.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.612635	0.66672	2.27E-4	0.0	ENSG00000113302	ENST00000231228	T	0.19394	2.15	5.87	5.01	0.66863	Fibronectin, type III (1);Interleukin-12, beta subunit, central domain (1);Immunoglobulin-like fold (1);	0.208574	0.49916	D	0.000134	T	0.24547	0.0595	M	0.78801	2.425	0.40824	D	0.983534	P	0.47350	0.894	B	0.40134	0.32	T	0.13255	-1.0516	10	0.19590	T	0.45	-12.2635	11.3852	0.49780	0.0:0.9167:0.0:0.0833	.	132	P29460	IL12B_HUMAN	K	132	ENSP00000231228:E132K	ENSP00000231228:E132K	E	-	1	0	IL12B	158682068	0.974000	0.33945	0.884000	0.34674	0.878000	0.50629	2.479000	0.45197	1.625000	0.50366	0.655000	0.94253	GAG		0.378	IL12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252652.2	NM_002187		14	40	0	0	0	0	14	40				
UNC5A	90249	broad.mit.edu	37	5	176301345	176301345	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr5:176301345G>T	ENST00000329542.4	+	8	1430	c.1156G>T	c.(1156-1158)Gat>Tat	p.D386Y	UNC5A_ENST00000261961.3_Missense_Mutation_p.D346Y	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	386					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCCCGGCAGGATGGGCCCAG	0.647																																						uc003mey.2		NA																	0				skin(1)	1						c.(1156-1158)GAT>TAT		netrin receptor Unc5h1 precursor							81.0	90.0	87.0					5																	176301345		2203	4300	6503	SO:0001583	missense	90249				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		g.chr5:176301345G>T	AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"""Immunoglobulin superfamily / I-set domain containing"""	12567	protein-coding gene	gene with protein product		607869	"""unc5 (C.elegans homolog) a"""				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.1156G>T	5.37:g.176301345G>T	ENSP00000332737:p.Asp386Tyr					UNC5A_uc010jkg.1_Missense_Mutation_p.D346Y	p.D386Y	NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	1348	+	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	386			Cytoplasmic (Potential).		B2RXE6|Q8TF26|Q96GP4	Missense_Mutation	SNP	ENST00000329542.4	37	c.1156G>T	CCDS34299.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982969	0.74474	.	.	ENSG00000113763	ENST00000329542;ENST00000261961	T;T	0.55052	0.54;0.89	5.34	5.34	0.76211	.	0.161350	0.53938	D	0.000059	T	0.69682	0.3138	L	0.55990	1.75	0.53005	D	0.999967	D;D	0.76494	0.998;0.999	D;D	0.75020	0.985;0.926	T	0.72110	-0.4389	10	0.87932	D	0	-19.5194	19.0266	0.92934	0.0:0.0:1.0:0.0	.	346;386	Q6ZN44-3;Q6ZN44	.;UNC5A_HUMAN	Y	386;346	ENSP00000332737:D386Y;ENSP00000261961:D346Y	ENSP00000261961:D346Y	D	+	1	0	UNC5A	176233951	1.000000	0.71417	0.997000	0.53966	0.923000	0.55619	7.457000	0.80775	2.512000	0.84698	0.484000	0.47621	GAT		0.647	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300		39	158	1	0	1.36e-19	1.76e-19	39	158				
HIST1H2AB	8335	broad.mit.edu	37	6	26033684	26033685	+	Missense_Mutation	DNP	CC	CC	AA	rs369599740		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr6:26033684_26033685CC>AA	ENST00000259791.2	-	1	111_112	c.112_113GG>TT	c.(112-114)GGc>TTc	p.G38F	HIST1H3B_ENST00000244661.2_5'Flank	NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN	histone cluster 1, H2ab	38				GN -> AH (in Ref. 1; CAA24951). {ECO:0000305}.		extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						GGAGTAGTTGCCTTTGCGGAGC	0.653																																						uc003nft.1		NA																	0					0						c.(112-114)GGC>TTC		histone cluster 1, H2ab																																				SO:0001583	missense	8335				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26033684_26033685CC>AA	X00089	CCDS4574.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000137259	ENSG00000278463		"""Histones / Replication-dependent"""	4734	protein-coding gene	gene with protein product		602795	"""H2A histone family, member M"", ""histone 1, H2ab"""	H2AFM		9439656, 9119399, 12408966	Standard	NM_003513		Approved	H2A/m	uc003nft.1	P04908	OTTHUMG00000014420	ENST00000259791.2:c.112_113delinsAA	6.37:g.26033684_26033685delinsAA	ENSP00000259791:p.Gly38Phe					HIST1H3B_uc003nfs.1_5'Flank	p.G38F	NM_003513	NP_003504	P04908	H2A1B_HUMAN			1	112_113	-			38	GN -> AH (in Ref. 1; CAA24951).				P28001|Q76P63	Missense_Mutation	DNP	ENST00000259791.2	37	c.112_113GG>TT	CCDS4574.1																																																																																				0.653	HIST1H2AB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040082.1	NM_003513		14	93	0	0	0	0	14	93				
HIST1H4I	8294	broad.mit.edu	37	6	27107126	27107126	+	Missense_Mutation	SNP	A	A	C	rs564129943		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr6:27107126A>C	ENST00000354348.2	+	1	51	c.39A>C	c.(37-39)aaA>aaC	p.K13N	HIST1H2BK_ENST00000396891.4_Intron	NM_003495.2	NP_003486.1	P62805	H4_HUMAN	histone cluster 1, H4i	13					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			lung(1)	1						GCCTGGGGAAAGGGGGTGCCA	0.597			T	BCL6	NHL																																	uc003niy.1		NA		Dom	yes		6	6p21.3	8294	T	"""histone 1, H4i (H4FM)"""			L	BCL6		NHL		0				lung(1)	1						c.(37-39)AAA>AAC		histone cluster 1, H4i							43.0	45.0	44.0					6																	27107126		2203	4300	6503	SO:0001583	missense	8294				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27107126A>C	AB000905	CCDS4620.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198339	ENSG00000276180		"""Histones / Replication-dependent"""	4793	protein-coding gene	gene with protein product		602833	"""H4 histone family, member M"", ""histone 1, H4i"""	H4FM		8988030, 9439656, 12408966	Standard	NM_003495		Approved	H4/m	uc003niy.1	P62805	OTTHUMG00000014471	ENST00000354348.2:c.39A>C	6.37:g.27107126A>C	ENSP00000346316:p.Lys13Asn					HIST1H2BK_uc003nix.1_Intron	p.K13N	NM_003495	NP_003486	P62805	H4_HUMAN			1	39	+			13					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000354348.2	37	c.39A>C	CCDS4620.1	.	.	.	.	.	.	.	.	.	.	.	13.53	2.265185	0.40095	.	.	ENSG00000198339	ENST00000354348	.	.	.	3.95	-5.27	0.02763	.	0.000000	0.42420	U	0.000704	T	0.68238	0.2979	M	0.91717	3.235	0.39790	D	0.972424	.	.	.	.	.	.	T	0.76476	-0.2945	7	0.72032	D	0.01	.	11.4945	0.50400	0.4794:0.0:0.5206:0.0	.	.	.	.	N	13	.	ENSP00000346316:K13N	K	+	3	2	HIST1H4I	27215105	0.210000	0.23517	0.023000	0.16930	0.036000	0.12997	-0.329000	0.07935	-1.189000	0.02702	0.533000	0.62120	AAA		0.597	HIST1H4I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040139.1	NM_003495		19	51	0	0	0	0	19	51				
HLA-B	3106	broad.mit.edu	37	6	31323330	31323330	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr6:31323330T>G	ENST00000412585.2	-	4	687	c.659A>C	c.(658-660)gAc>gCc	p.D220A		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	220	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						GGCCTCATGGTCAGAGATGGG	0.582									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																													uc003nth.2		NA																	0					0						c.(658-660)GAC>GCC		major histocompatibility complex, class I, B							83.0	86.0	85.0					6																	31323330		2203	4300	6503	SO:0001583	missense	3106	Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of	Familial Cancer Database	;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:31323330T>G	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.659A>C	6.37:g.31323330T>G	ENSP00000399168:p.Asp220Ala					HLA-C_uc003ntb.2_RNA|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_RNA|HLA-B_uc011dnk.1_RNA|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Missense_Mutation_p.D99A|HLA-B_uc003nti.1_RNA|HLA-B_uc010jsn.1_RNA|HLA-B_uc010jso.2_3'UTR	p.D220A	NM_005514	NP_005505	P01889	1B07_HUMAN			4	713	-			220			Alpha-3.|Ig-like C1-type.|Extracellular (Potential).		Q29764	Missense_Mutation	SNP	ENST00000412585.2	37	c.659A>C	CCDS34394.1	.	.	.	.	.	.	.	.	.	.	N	11.64	1.698080	0.30142	.	.	ENSG00000234745	ENST00000412585;ENST00000428231;ENST00000452596;ENST00000434333	T;T	0.14516	2.5;2.5	3.2	3.2	0.36748	Immunoglobulin-like (1);Immunoglobulin C1-set (1);Immunoglobulin-like fold (1);	0.152620	0.29389	U	0.012291	T	0.11153	0.0272	M	0.82630	2.6	0.09310	N	1	B	0.27732	0.187	B	0.37198	0.243	T	0.10636	-1.0621	10	0.87932	D	0	.	8.0844	0.30762	0.0:0.0:0.0:1.0	.	220	P01889	1B07_HUMAN	A	220;99;99;231	ENSP00000399168:D220A;ENSP00000405931:D231A	ENSP00000399168:D220A	D	-	2	0	HLA-B	31431309	0.001000	0.12720	0.008000	0.14137	0.190000	0.23558	0.994000	0.29693	1.476000	0.48215	0.368000	0.22195	GAC		0.582	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		27	175	0	0	0	0	27	175				
AGPAT1	10554	broad.mit.edu	37	6	32138309	32138309	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr6:32138309C>T	ENST00000395499.1	-	4	982	c.403G>A	c.(403-405)Gcc>Acc	p.A135T	AGPAT1_ENST00000395497.1_Missense_Mutation_p.A135T|AGPAT1_ENST00000490711.1_Intron|AGPAT1_ENST00000336984.6_Missense_Mutation_p.A135T|AGPAT1_ENST00000375107.3_Missense_Mutation_p.A135T|AGPAT1_ENST00000412465.2_Missense_Mutation_p.A23T|AGPAT1_ENST00000395496.1_Missense_Mutation_p.A135T|PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000375104.2_Missense_Mutation_p.A135T			Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	135					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						GCCAGCCCGGCAGAGCCAGCC	0.652																																						uc003oae.2		NA																	0				central_nervous_system(1)	1						c.(403-405)GCC>ACC		1-acylglycerol-3-phosphate O-acyltransferase 1							68.0	76.0	73.0					6																	32138309		1510	2708	4218	SO:0001583	missense	10554				energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr6:32138309C>T	U56417	CCDS4744.1	6p21.3	2013-02-05	2013-02-05		ENSG00000204310	ENSG00000204310	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	324	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, alpha"""	603099	"""1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase, alpha)"""			9461603, 9291118	Standard	NM_032741		Approved	LPAAT-alpha	uc003oae.3	Q99943	OTTHUMG00000031210	ENST00000395499.1:c.403G>A	6.37:g.32138309C>T	ENSP00000378877:p.Ala135Thr					PPT2_uc003nzy.1_RNA|AGPAT1_uc011dpj.1_RNA|AGPAT1_uc011dpk.1_Missense_Mutation_p.A99T|AGPAT1_uc003oaf.2_Missense_Mutation_p.A135T|AGPAT1_uc003oag.2_Intron|AGPAT1_uc003oah.2_Missense_Mutation_p.A135T|AGPAT1_uc003oai.1_Missense_Mutation_p.A135T|AGPAT1_uc011dpl.1_Missense_Mutation_p.A23T	p.A135T	NM_006411	NP_006402	Q99943	PLCA_HUMAN			4	721	-			135			Helical; (Potential).		A2BFI5|Q5BL03	Missense_Mutation	SNP	ENST00000395499.1	37	c.403G>A	CCDS4744.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.583679	0.86748	.	.	ENSG00000204310	ENST00000395496;ENST00000375107;ENST00000395499;ENST00000375104;ENST00000395497;ENST00000336984;ENST00000412465;ENST00000538952	D;D;D;D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14	5.65	5.65	0.86999	Phospholipid/glycerol acyltransferase (2);1-acyl-sn-glycerol-3-phosphate acyltransferase (1);	0.105878	0.64402	D	0.000004	D	0.89504	0.6734	L	0.28649	0.875	0.51012	D	0.999902	B;P	0.43169	0.137;0.8	B;P	0.50270	0.18;0.636	D	0.91059	0.4884	10	0.66056	D	0.02	-12.1642	17.2301	0.86982	0.0:1.0:0.0:0.0	.	99;135	B4DRH1;Q99943	.;PLCA_HUMAN	T	135;135;135;135;135;135;23;39	ENSP00000378874:A135T;ENSP00000364248:A135T;ENSP00000378877:A135T;ENSP00000364245:A135T;ENSP00000378875:A135T;ENSP00000337463:A135T;ENSP00000410473:A23T	ENSP00000337463:A135T	A	-	1	0	AGPAT1	32246287	0.919000	0.31177	0.998000	0.56505	0.993000	0.82548	2.383000	0.44354	2.678000	0.91216	0.655000	0.94253	GCC		0.652	AGPAT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268941.1	NM_006411		15	107	0	0	0	0	15	107				
AGER	177	broad.mit.edu	37	6	32150719	32150720	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr6:32150719_32150720GC>TT	ENST00000375076.4	-	6	690_691	c.589_590GC>AA	c.(589-591)GCc>AAc	p.A197N	AGER_ENST00000375069.3_Missense_Mutation_p.A96N|RNF5_ENST00000427134.2_Intron|AGER_ENST00000375065.5_Intron|AGER_ENST00000438221.2_Missense_Mutation_p.A213N|AGER_ENST00000375067.3_Missense_Mutation_p.A183N|AGER_ENST00000375055.2_Missense_Mutation_p.A197N|XXbac-BPG300A18.13_ENST00000559458.1_RNA|AGER_ENST00000375070.3_Missense_Mutation_p.A228N	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor	197	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|neuron projection development (GO:0031175)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|response to wounding (GO:0009611)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|receptor activity (GO:0004872)|S100 protein binding (GO:0044548)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						TCCTCCCCGGGCTGGGGTCACC	0.619																																						uc003oal.1		NA																	0				breast(1)	1						c.(589-591)GCC>AAC		advanced glycosylation end product-specific																																				SO:0001583	missense	177				cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity	g.chr6:32150719_32150720GC>TT	M91211	CCDS4746.1, CCDS4747.1, CCDS56417.1, CCDS56418.1, CCDS75429.1	6p21.3	2013-01-29			ENSG00000204305	ENSG00000204305		"""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	320	protein-coding gene	gene with protein product		600214				7713518	Standard	NM_001136		Approved	RAGE	uc003oap.2	Q15109	OTTHUMG00000031120	ENST00000375076.4:c.589_590delinsTT	6.37:g.32150719_32150720delinsTT	ENSP00000364217:p.Ala197Asn					AGER_uc003oak.1_5'Flank|AGER_uc003oar.2_Missense_Mutation_p.A96N|AGER_uc011dpm.1_Missense_Mutation_p.A96N|AGER_uc011dpn.1_Missense_Mutation_p.A96N|AGER_uc010jtv.1_Missense_Mutation_p.A197N|AGER_uc011dpo.1_Missense_Mutation_p.A110N|AGER_uc003oam.1_Intron|AGER_uc003oan.1_Missense_Mutation_p.A183N|AGER_uc003oap.1_Missense_Mutation_p.A213N|AGER_uc003oat.1_Missense_Mutation_p.A213N|AGER_uc003oao.1_RNA|AGER_uc003oaq.1_Missense_Mutation_p.A183N|AGER_uc010jtw.1_RNA|AGER_uc003oas.1_Missense_Mutation_p.A197N|AGER_uc003oau.1_Missense_Mutation_p.A197N|AGER_uc011dpp.1_Missense_Mutation_p.A197N|AGER_uc011dpq.1_Missense_Mutation_p.A213N	p.A197N	NM_001136	NP_001127	Q15109	RAGE_HUMAN			6	613_614	-			197			Extracellular (Potential).|Ig-like C2-type 1.		A2BFI7|A6NKF0|A7Y2U9|B0V176|Q15279|Q3L1R4|Q3L1R5|Q3L1R6|Q3L1R7|Q3L1R8|Q3L1S0|Q86SN1|Q9H2X7|Q9Y3R3|V5R6A3	Missense_Mutation	DNP	ENST00000375076.4	37	c.589_590GC>AA	CCDS4746.1																																																																																				0.619	AGER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076200.1	NM_001136		11	94	0	0	0	0	11	94				
AGER	177	broad.mit.edu	37	6	32150723	32150723	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr6:32150723G>C	ENST00000375076.4	-	6	687	c.586C>G	c.(586-588)Cca>Gca	p.P196A	AGER_ENST00000375069.3_Missense_Mutation_p.P95A|RNF5_ENST00000427134.2_Intron|AGER_ENST00000375065.5_Intron|AGER_ENST00000438221.2_Missense_Mutation_p.P212A|AGER_ENST00000375067.3_Missense_Mutation_p.P182A|AGER_ENST00000375055.2_Missense_Mutation_p.P196A|XXbac-BPG300A18.13_ENST00000559458.1_RNA|AGER_ENST00000375070.3_Missense_Mutation_p.P227A	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor	196	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|neuron projection development (GO:0031175)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|response to wounding (GO:0009611)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|receptor activity (GO:0004872)|S100 protein binding (GO:0044548)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						CCCCGGGCTGGGGTCACCATT	0.607																																						uc003oal.1		NA																	0				breast(1)	1						c.(586-588)CCA>GCA		advanced glycosylation end product-specific							82.0	77.0	79.0					6																	32150723		1510	2709	4219	SO:0001583	missense	177				cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity	g.chr6:32150723G>C	M91211	CCDS4746.1, CCDS4747.1, CCDS56417.1, CCDS56418.1, CCDS75429.1	6p21.3	2013-01-29			ENSG00000204305	ENSG00000204305		"""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	320	protein-coding gene	gene with protein product		600214				7713518	Standard	NM_001136		Approved	RAGE	uc003oap.2	Q15109	OTTHUMG00000031120	ENST00000375076.4:c.586C>G	6.37:g.32150723G>C	ENSP00000364217:p.Pro196Ala					AGER_uc003oak.1_5'Flank|AGER_uc003oar.2_Missense_Mutation_p.P95A|AGER_uc011dpm.1_Missense_Mutation_p.P95A|AGER_uc011dpn.1_Missense_Mutation_p.P95A|AGER_uc010jtv.1_Missense_Mutation_p.P196A|AGER_uc011dpo.1_Missense_Mutation_p.P109A|AGER_uc003oam.1_Intron|AGER_uc003oan.1_Missense_Mutation_p.P182A|AGER_uc003oap.1_Missense_Mutation_p.P212A|AGER_uc003oat.1_Missense_Mutation_p.P212A|AGER_uc003oao.1_RNA|AGER_uc003oaq.1_Missense_Mutation_p.P182A|AGER_uc010jtw.1_RNA|AGER_uc003oas.1_Missense_Mutation_p.P196A|AGER_uc003oau.1_Missense_Mutation_p.P196A|AGER_uc011dpp.1_Missense_Mutation_p.P196A|AGER_uc011dpq.1_Missense_Mutation_p.P212A	p.P196A	NM_001136	NP_001127	Q15109	RAGE_HUMAN			6	610	-			196			Extracellular (Potential).|Ig-like C2-type 1.		A2BFI7|A6NKF0|A7Y2U9|B0V176|Q15279|Q3L1R4|Q3L1R5|Q3L1R6|Q3L1R7|Q3L1R8|Q3L1S0|Q86SN1|Q9H2X7|Q9Y3R3|V5R6A3	Missense_Mutation	SNP	ENST00000375076.4	37	c.586C>G	CCDS4746.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.354637	0.41700	.	.	ENSG00000204305	ENST00000375067;ENST00000375055;ENST00000375076;ENST00000375070;ENST00000438221;ENST00000375069;ENST00000450110;ENST00000375056	T;T;T;T;T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17;-1.17;-1.17;-1.17;-1.17	5.3	4.42	0.53409	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.128858	0.35936	N	0.002881	T	0.74981	0.3788	L	0.45228	1.405	0.80722	D	1	D;P;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;0.919;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;P;D;D;D;D;D;D;D;D;D;D	0.91635	0.994;0.57;0.999;0.999;0.991;0.998;0.994;0.999;0.999;0.999;0.998;0.995	T	0.71906	-0.4451	10	0.25106	T	0.35	-0.0485	8.8842	0.35394	0.0996:0.0:0.9004:0.0	.	212;196;196;95;196;196;212;196;182;212;182;196	B5A981;B5A980;C9J0M2;A8MS87;A7Y2U9;Q15109-3;Q3L1R7;Q3L1R6;Q3L1R5;Q3L1R8;Q15109-2;Q15109	.;.;.;.;.;.;.;.;.;.;.;RAGE_HUMAN	A	182;196;196;227;212;95;209;212	ENSP00000364208:P182A;ENSP00000364195:P196A;ENSP00000364217:P196A;ENSP00000364211:P227A;ENSP00000387887:P212A;ENSP00000364210:P95A;ENSP00000398466:P209A;ENSP00000364196:P212A	ENSP00000364195:P196A	P	-	1	0	AGER	32258701	1.000000	0.71417	0.941000	0.38009	0.765000	0.43378	3.182000	0.50910	2.491000	0.84063	0.462000	0.41574	CCA		0.607	AGER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076200.1	NM_001136		10	94	0	0	0	0	10	94				
LAMA4	3910	broad.mit.edu	37	6	112537594	112537594	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr6:112537594C>A	ENST00000230538.7	-	3	669	c.272G>T	c.(271-273)tGt>tTt	p.C91F	RP1-142L7.9_ENST00000603682.1_lincRNA|LAMA4_ENST00000522006.1_Missense_Mutation_p.C91F|LAMA4_ENST00000431543.2_Missense_Mutation_p.C91F|LAMA4_ENST00000389463.4_Missense_Mutation_p.C91F|LAMA4_ENST00000524032.1_5'UTR|LAMA4_ENST00000424408.2_Missense_Mutation_p.C91F	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	91	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GCCGTCCAAACACTCGTTGGA	0.458																																						uc003pvu.2		NA																	0				ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9						c.(271-273)TGT>TTT		laminin, alpha 4 isoform 1 precursor							127.0	104.0	112.0					6																	112537594		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112537594C>A		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.272G>T	6.37:g.112537594C>A	ENSP00000230538:p.Cys91Phe					LAMA4_uc003pvv.2_Missense_Mutation_p.C91F|LAMA4_uc003pvt.2_Missense_Mutation_p.C91F|LAMA4_uc003pvw.2_Missense_Mutation_p.C91F	p.C91F	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	3	581	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	91			Laminin EGF-like 1.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.272G>T	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.937008	0.52972	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408;ENST00000454881;ENST00000521398;ENST00000542588;ENST00000368639;ENST00000519932;ENST00000431543	D;D;D;D;D;D;D	0.99060	-3.4;-3.4;-3.4;-3.4;-3.4;-5.38;-5.38	5.84	5.84	0.93424	EGF-like, laminin (3);	0.000000	0.85682	D	0.000000	D	0.99687	0.9882	H	0.98769	4.325	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	D	0.97496	1.0057	10	0.87932	D	0	.	17.6392	0.88130	0.0:1.0:0.0:0.0	.	91;91;91	Q6LET9;Q16363;Q16363-2	.;LAMA4_HUMAN;.	F	91	ENSP00000230538:C91F;ENSP00000429488:C91F;ENSP00000374114:C91F;ENSP00000416470:C91F;ENSP00000430336:C91F;ENSP00000428583:C91F;ENSP00000412136:C91F	ENSP00000230538:C91F	C	-	2	0	LAMA4	112644287	1.000000	0.71417	0.704000	0.30370	0.138000	0.21146	5.260000	0.65490	2.748000	0.94277	0.650000	0.86243	TGT		0.458	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		8	56	1	0	7.48e-07	9.1e-07	8	56				
RFX6	222546	broad.mit.edu	37	6	117250042	117250042	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr6:117250042C>T	ENST00000332958.2	+	18	2535	c.2519C>T	c.(2518-2520)cCa>cTa	p.P840L		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	840					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						ATCCACGATCCACTTAACATT	0.463																																						uc003pxm.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(2518-2520)CCA>CTA		regulatory factor X, 6							159.0	135.0	143.0					6																	117250042		2203	4300	6503	SO:0001583	missense	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117250042C>T	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.2519C>T	6.37:g.117250042C>T	ENSP00000332208:p.Pro840Leu						p.P840L	NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN			18	2582	+			840					Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	c.2519C>T	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.661521	0.88154	.	.	ENSG00000185002	ENST00000332958	T	0.62639	0.01	5.63	4.7	0.59300	.	0.298608	0.33515	N	0.004823	T	0.65344	0.2682	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.68743	-0.5328	10	0.87932	D	0	-17.0541	16.3627	0.83275	0.0:0.8683:0.1317:0.0	.	840	Q8HWS3	RFX6_HUMAN	L	840	ENSP00000332208:P840L	ENSP00000332208:P840L	P	+	2	0	RFX6	117356735	1.000000	0.71417	0.999000	0.59377	0.929000	0.56500	5.648000	0.67930	2.814000	0.96858	0.655000	0.94253	CCA		0.463	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		24	99	0	0	0	0	24	99				
GPER1	2852	broad.mit.edu	37	7	1132135	1132135	+	Silent	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr7:1132135G>A	ENST00000297469.3	+	2	1462	c.771G>A	c.(769-771)gcG>gcA	p.A257A	C7orf50_ENST00000488073.1_Intron|C7orf50_ENST00000397100.2_Intron|C7orf50_ENST00000357429.6_Intron|GPER1_ENST00000397092.1_Silent_p.A257A|C7orf50_ENST00000397098.3_Intron|GPER1_ENST00000401670.1_Silent_p.A257A|GPER1_ENST00000397088.3_Silent_p.A257A	NM_001505.2	NP_001496.1	Q99527	GPER1_HUMAN	G protein-coupled estrogen receptor 1	257					apoptotic chromosome condensation (GO:0030263)|cell cycle (GO:0007049)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucose stimulus (GO:0071333)|cellular response to mineralocorticoid stimulus (GO:0071389)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytosolic calcium ion homeostasis (GO:0051480)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA metabolic process (GO:0051053)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte activation (GO:0002695)|negative regulation of lipid biosynthetic process (GO:0051055)|neuronal action potential (GO:0019228)|nuclear fragmentation involved in apoptotic nuclear change (GO:0030264)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of gene expression (GO:0010628)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of insulin secretion (GO:0032024)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vasodilation (GO:0045909)|steroid hormone mediated signaling pathway (GO:0043401)	axon (GO:0030424)|axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|dendritic spine head (GO:0044327)|dendritic spine membrane (GO:0032591)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|keratin filament (GO:0045095)|mitochondrial membrane (GO:0031966)|neuronal postsynaptic density (GO:0097481)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	chromatin binding (GO:0003682)|estrogen receptor activity (GO:0030284)|G-protein coupled receptor activity (GO:0004930)|mineralocorticoid receptor activity (GO:0017082)|steroid binding (GO:0005496)										GGCAGAAGGCGCTCCGCATGA	0.682																																						uc010ksd.1		NA																	0				ovary(1)	1						c.(769-771)GCG>GCA		G protein-coupled receptor 30							45.0	47.0	46.0					7																	1132135		2203	4300	6503	SO:0001819	synonymous_variant	2852					endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:1132135G>A	U63917	CCDS5322.1	7p22	2013-08-14	2007-07-03	2013-08-14	ENSG00000164850	ENSG00000164850			4485	protein-coding gene	gene with protein product		601805	"""G protein-coupled receptor 30"""	CMKRL2, GPR30, GPER		9479505, 17655271	Standard	NM_001098201		Approved	FEG-1, GPCR-Br, LERGU, LERGU2, DRY12, LyGPR, CEPR	uc003skb.2	Q99527	OTTHUMG00000023680	ENST00000297469.3:c.771G>A	7.37:g.1132135G>A						C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPER_uc003sjz.1_Silent_p.A257A|GPER_uc003ska.1_Silent_p.A257A|GPER_uc003skb.2_Silent_p.A257A	p.A257A	NM_001098201	NP_001091671	Q99527	GPER_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)	2	1160	+		Ovarian(82;0.0253)	257			Cytoplasmic (Potential).		A8K6C5|B5BUJ1|O00143|O43494|Q13631|Q6FHL1|Q96F42|Q99981	Silent	SNP	ENST00000297469.3	37	c.771G>A	CCDS5322.1																																																																																				0.682	GPER1-030	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060001.1	NM_001039966		26	59	0	0	0	0	26	59				
FKBP14	55033	broad.mit.edu	37	7	30058665	30058665	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr7:30058665C>A	ENST00000222803.5	-	3	599	c.424G>T	c.(424-426)Gaa>Taa	p.E142*	AC007285.6_ENST00000422239.1_RNA|AC007285.6_ENST00000419103.1_RNA	NM_017946.3	NP_060416.1	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14, 22 kDa	142	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|large_intestine(2)|lung(2)	5						TGGAATGATTCATGGGATCTT	0.393																																						uc003tal.1		NA																	0					0						c.(424-426)GAA>TAA		FK506 binding protein 14 precursor							119.0	117.0	117.0					7																	30058665		2203	4300	6503	SO:0001587	stop_gained	55033				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:30058665C>A	AK000738	CCDS5423.1	7p15	2014-09-17	2002-08-29		ENSG00000106080	ENSG00000106080		"""EF-hand domain containing"""	18625	protein-coding gene	gene with protein product		614505	"""FK506 binding protein 14 (22 kDa)"""			12036304	Standard	NM_017946		Approved	FLJ20731, FKBP22	uc003tal.2	Q9NWM8	OTTHUMG00000023442	ENST00000222803.5:c.424G>T	7.37:g.30058665C>A	ENSP00000222803:p.Glu142*					FKBP14_uc010kvq.1_RNA	p.E142*	NM_017946	NP_060416	Q9NWM8	FKB14_HUMAN			3	568	-			142			EF-hand 1.			Nonsense_Mutation	SNP	ENST00000222803.5	37	c.424G>T	CCDS5423.1	.	.	.	.	.	.	.	.	.	.	C	38	6.730484	0.97796	.	.	ENSG00000106080	ENST00000222803	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-15.2049	18.4676	0.90761	0.0:1.0:0.0:0.0	.	.	.	.	X	142	.	ENSP00000222803:E142X	E	-	1	0	FKBP14	30025190	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.694000	0.91930	0.591000	0.81541	GAA		0.393	FKBP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214229.1	NM_017946		15	69	1	0	6.32e-08	7.83e-08	15	69				
PPP1R9A	55607	broad.mit.edu	37	7	94827740	94827740	+	Missense_Mutation	SNP	C	C	T	rs200450439		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr7:94827740C>T	ENST00000433881.1	+	6	2366	c.1834C>T	c.(1834-1836)Cgc>Tgc	p.R612C	PPP1R9A_ENST00000433360.1_Missense_Mutation_p.R612C|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.R612C|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.R612C|AC002429.5_ENST00000417881.2_RNA|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.R612C|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.R612C			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	612	Interacts with TGN38. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			ACAGGAGAGGCGCCAGAGAGA	0.478										HNSCC(28;0.073)																												uc003unp.2		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(1834-1836)CGC>TGC		protein phosphatase 1, regulatory (inhibitor)		C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	135.0	136.0	136.0		1834,1834,1834,1834,1834	4.7	1.0	7		136	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense,missense	PPP1R9A	NM_001166160.1,NM_001166161.1,NM_001166162.1,NM_001166163.1,NM_017650.2	180,180,180,180,180	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	612/1375,612/1297,612/1254,612/1091,612/1099	94827740	2,13004	2203	4300	6503	SO:0001583	missense	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94827740C>T	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.1834C>T	7.37:g.94827740C>T	ENSP00000398870:p.Arg612Cys	HNSCC(28;0.073)				PPP1R9A_uc010lfj.2_Missense_Mutation_p.R612C|PPP1R9A_uc011kif.1_Missense_Mutation_p.R612C|PPP1R9A_uc003unq.2_Missense_Mutation_p.R612C|PPP1R9A_uc011kig.1_Missense_Mutation_p.R612C	p.R612C	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		6	2116	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		612			Potential.|Interacts with TGN38 (By similarity).		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	37	c.1834C>T	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.812555	0.50527	0.0	2.33E-4	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.15952	2.38;2.41;2.42;2.41;2.42;2.42	5.61	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.27967	0.0689	N	0.20530	0.585	0.80722	D	1	B;P;P;D;B	0.89917	0.253;0.744;0.744;1.0;0.362	B;B;B;D;B	0.73708	0.049;0.161;0.106;0.981;0.06	T	0.11717	-1.0576	10	0.59425	D	0.04	.	16.4256	0.83813	0.1322:0.8678:0.0:0.0	.	612;612;612;612;612	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	C	612	ENSP00000405514:R612C;ENSP00000344524:R612C;ENSP00000411342:R612C;ENSP00000398870:R612C;ENSP00000289495:R612C;ENSP00000402893:R612C	ENSP00000289495:R612C	R	+	1	0	PPP1R9A	94665676	0.994000	0.37717	1.000000	0.80357	0.143000	0.21401	1.406000	0.34646	1.491000	0.48482	0.591000	0.81541	CGC		0.478	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		23	126	0	0	0	0	23	126				
TFR2	7036	broad.mit.edu	37	7	100238307	100238307	+	Splice_Site	SNP	A	A	G			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr7:100238307A>G	ENST00000462107.1	-	4	761		c.e4+1		TFR2_ENST00000431692.1_Splice_Site|TFR2_ENST00000223051.3_Splice_Site			Q9UP52	TFR2_HUMAN	transferrin receptor 2						cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transferrin receptor activity (GO:0004998)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)				Gallium nitrate(DB05260)	GGCCATCCCTACCTGATGGTG	0.657																																						uc003uvv.1		NA																	0				ovary(1)|pancreas(1)	2						c.e3+1		transferrin receptor 2							33.0	34.0	34.0					7																	100238307		2203	4299	6502	SO:0001630	splice_region_variant	7036				cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity	g.chr7:100238307A>G	AF053356	CCDS34707.1	7q22	2003-01-27			ENSG00000106327	ENSG00000106327			11762	protein-coding gene	gene with protein product		604720				9799793, 12130528	Standard	NM_003227		Approved	HFE3, TFRC2	uc003uvv.1	Q9UP52	OTTHUMG00000159598	ENST00000462107.1:c.473+1T>C	7.37:g.100238307A>G						TFR2_uc003uvw.1_Nonstop_Mutation_p.*159Q	p.R158_splice	NM_003227	NP_003218	Q9UP52	TFR2_HUMAN			3	514	-	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)							A6NGM7|O75422|Q1HE13|Q9HA99|Q9NX67	Splice_Site	SNP	ENST00000462107.1	37	c.473_splice	CCDS34707.1	.	.	.	.	.	.	.	.	.	.	A	16.88	3.244225	0.59103	.	.	ENSG00000106327	ENST00000223051;ENST00000431692;ENST00000462107	.	.	.	4.47	4.47	0.54385	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.3134	0.43723	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TFR2	100076243	1.000000	0.71417	0.997000	0.53966	0.681000	0.39784	4.564000	0.60830	2.017000	0.59298	0.260000	0.18958	.		0.657	TFR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356392.3	NM_003227	Intron	5	17	0	0	0	0	5	17				
TNPO3	23534	broad.mit.edu	37	7	128640537	128640537	+	Silent	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr7:128640537C>T	ENST00000265388.5	-	7	1100	c.957G>A	c.(955-957)ggG>ggA	p.G319G	TNPO3_ENST00000471166.1_Silent_p.G319G|TNPO3_ENST00000471234.1_Silent_p.G319G|TNPO3_ENST00000393245.1_Silent_p.G319G|TNPO3_ENST00000482320.1_Silent_p.G253G			Q9Y5L0	TNPO3_HUMAN	transportin 3	319					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						TTCGAAGGTCCCCAAGACCTT	0.433																																					Pancreas(147;583 2585 39696 52331)	uc003vol.1		NA																	0				ovary(2)|skin(2)|lung(1)	5						c.(955-957)GGG>GGA		transportin 3							84.0	90.0	88.0					7																	128640537		2203	4300	6503	SO:0001819	synonymous_variant	23534				splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity	g.chr7:128640537C>T	AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"""Importins"""	17103	protein-coding gene	gene with protein product	"""importin 12"""	610032	"""limb girdle muscular dystrophy 1F (autosomal dominant)"""	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.957G>A	7.37:g.128640537C>T						TNPO3_uc003vom.1_Silent_p.G253G|TNPO3_uc010lly.1_Silent_p.G319G|TNPO3_uc010llz.1_Silent_p.G319G	p.G319G	NM_012470	NP_036602	Q9Y5L0	TNPO3_HUMAN			7	1331	-			319					A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Silent	SNP	ENST00000265388.5	37	c.957G>A	CCDS5809.1																																																																																				0.433	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350929.1	NM_012470		16	76	0	0	0	0	16	76				
ZNF425	155054	broad.mit.edu	37	7	148802572	148802572	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr7:148802572T>C	ENST00000378061.2	-	4	523	c.391A>G	c.(391-393)Aaa>Gaa	p.K131E		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	131					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TTTCTCTCTTTCCCTCGTAAG	0.428																																						uc003wfj.2		NA																	0				breast(2)|ovary(1)	3						c.(391-393)AAA>GAA		zinc finger protein 425							125.0	119.0	121.0					7																	148802572		2203	4300	6503	SO:0001583	missense	155054				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr7:148802572T>C	AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.391A>G	7.37:g.148802572T>C	ENSP00000367300:p.Lys131Glu						p.K131E	NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	464	-	Melanoma(164;0.15)		131					B3KPM1|Q08AG3	Missense_Mutation	SNP	ENST00000378061.2	37	c.391A>G	CCDS34773.1	.	.	.	.	.	.	.	.	.	.	T	3.701	-0.061470	0.07317	.	.	ENSG00000204947	ENST00000378061	T	0.07800	3.16	2.85	0.456	0.16655	.	.	.	.	.	T	0.02888	0.0086	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.45702	-0.9243	9	0.06236	T	0.91	.	2.9661	0.05908	0.0:0.3449:0.2494:0.4057	.	131	Q6IV72	ZN425_HUMAN	E	131	ENSP00000367300:K131E	ENSP00000367300:K131E	K	-	1	0	ZNF425	148433505	.	.	0.000000	0.03702	0.002000	0.02628	.	.	-0.103000	0.12175	-0.256000	0.11100	AAA		0.428	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140		3	84	0	0	0	0	3	84				
LYN	4067	broad.mit.edu	37	8	56860268	56860268	+	Missense_Mutation	SNP	G	G	A	rs149135061		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr8:56860268G>A	ENST00000519728.1	+	4	566	c.270G>A	c.(268-270)atG>atA	p.M90I	LYN_ENST00000520220.2_Missense_Mutation_p.M69I	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	90	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	GAGAGAAGATGAAAGTCCTGG	0.527																																						uc003xsk.3		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(268-270)ATG>ATA		Yamaguchi sarcoma viral (v-yes-1) oncogene							122.0	115.0	117.0					8																	56860268		2203	4300	6503	SO:0001583	missense	4067				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity	g.chr8:56860268G>A	M16038	CCDS6162.1, CCDS47859.1	8q13	2014-06-25	2014-06-25		ENSG00000254087	ENSG00000254087		"""SH2 domain containing"""	6735	protein-coding gene	gene with protein product		165120	"""v-yes-1 Yamaguchi sarcoma viral related oncogene homolog"""			3561390	Standard	NM_002350		Approved	JTK8	uc003xsk.4	P07948	OTTHUMG00000044345	ENST00000519728.1:c.270G>A	8.37:g.56860268G>A	ENSP00000428924:p.Met90Ile					LYN_uc003xsl.3_Missense_Mutation_p.M69I	p.M90I	NM_002350	NP_002341	P07948	LYN_HUMAN	Epithelial(17;0.000834)|all cancers(17;0.00598)		4	552	+		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	90			SH3.		A0AVQ5	Missense_Mutation	SNP	ENST00000519728.1	37	c.270G>A	CCDS6162.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.909446	0.33721	.	.	ENSG00000254087	ENST00000519728;ENST00000520220;ENST00000520050	T;T;T	0.15017	2.46;2.46;2.46	5.15	5.15	0.70609	Src homology-3 domain (5);	0.095100	0.64402	D	0.000001	T	0.08714	0.0216	N	0.01109	-1.01	0.42832	D	0.99402	B;B	0.28233	0.204;0.008	B;B	0.37144	0.242;0.04	T	0.39742	-0.9599	10	0.87932	D	0	.	13.8945	0.63764	0.0:0.0:0.8475:0.1525	.	160;90	Q6NUK7;P07948	.;LYN_HUMAN	I	90;69;90	ENSP00000428924:M90I;ENSP00000428424:M69I;ENSP00000428313:M90I	ENSP00000428924:M90I	M	+	3	0	LYN	57022822	1.000000	0.71417	1.000000	0.80357	0.287000	0.27160	3.116000	0.50399	2.562000	0.86427	0.585000	0.79938	ATG		0.527	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378155.1	NM_002350		20	101	0	0	0	0	20	101				
MRPS28	28957	broad.mit.edu	37	8	80915385	80915385	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr8:80915385A>G	ENST00000276585.4	-	2	266	c.244T>C	c.(244-246)Tct>Cct	p.S82P	MRPS28_ENST00000522987.1_Intron|MRPS28_ENST00000521605.1_Intron|TPD52_ENST00000537855.1_Missense_Mutation_p.S196P|MRPS28_ENST00000521434.1_Intron	NM_014018.2	NP_054737.1	Q9Y2Q9	RT28_HUMAN	mitochondrial ribosomal protein S28	82						mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5	Lung NSC(7;1.86e-06)|all_lung(9;6.91e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00769)|Epithelial(68;0.0208)|all cancers(69;0.0805)			CTCAGCATAGATGCAAAGGAT	0.338																																						uc003ybp.2		NA																	0					0						c.(244-246)TCT>CCT		mitochondrial ribosomal protein S28							76.0	73.0	74.0					8																	80915385		2203	4300	6503	SO:0001583	missense	28957					mitochondrial small ribosomal subunit		g.chr8:80915385A>G	AB061209	CCDS6226.1	8q21.1-q21.2	2012-09-13			ENSG00000147586	ENSG00000147586		"""Mitochondrial ribosomal proteins / small subunits"""	14513	protein-coding gene	gene with protein product		611990				11279123, 11042152	Standard	NM_014018		Approved	MRP-S28, HSPC007, MRPS35	uc003ybp.3	Q9Y2Q9	OTTHUMG00000164642	ENST00000276585.4:c.244T>C	8.37:g.80915385A>G	ENSP00000276585:p.Ser82Pro					MRPS28_uc003ybo.2_5'UTR|TPD52_uc010lzr.2_RNA	p.S82P	NM_014018	NP_054737	Q9Y2Q9	RT28_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.00769)|Epithelial(68;0.0208)|all cancers(69;0.0805)		2	267	-	Lung NSC(7;1.86e-06)|all_lung(9;6.91e-06)		82					B2RDZ7|Q96Q21	Missense_Mutation	SNP	ENST00000276585.4	37	c.244T>C	CCDS6226.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.26|17.26	3.345079|3.345079	0.61073|0.61073	.|.	.|.	ENSG00000147586|ENSG00000147586;ENSG00000076554	ENST00000519386|ENST00000276585;ENST00000537855	.|T;T	.|0.52983	.|2.37;0.64	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	.|0.064892	.|0.64402	.|D	.|0.000005	T|T	0.69993|0.69993	0.3173|0.3173	M|M	0.80183|0.80183	2.485|2.485	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.77557	.|0.99	T|T	0.75213|0.75213	-0.3397|-0.3397	5|10	.|0.87932	.|D	.|0	.|.	15.1231|15.1231	0.72460|0.72460	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|82	.|Q9Y2Q9	.|RT28_HUMAN	T|P	37|82;196	.|ENSP00000276585:S82P;ENSP00000438113:S196P	.|ENSP00000276585:S82P	I|S	-|-	2|1	0|0	MRPS28|MRPS28;TPD52	81077940|81077940	0.998000|0.998000	0.40836|0.40836	0.752000|0.752000	0.31206|0.31206	0.828000|0.828000	0.46876|0.46876	3.188000|3.188000	0.50958|0.50958	2.157000|2.157000	0.67596|0.67596	0.533000|0.533000	0.62120|0.62120	ATC|TCT		0.338	MRPS28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379526.1	NM_014018		8	37	0	0	0	0	8	37				
SLC26A7	115111	broad.mit.edu	37	8	92352728	92352728	+	Silent	SNP	T	T	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr8:92352728T>C	ENST00000276609.3	+	8	1214	c.975T>C	c.(973-975)gcT>gcC	p.A325A	SLC26A7_ENST00000309536.2_Silent_p.A325A|SLC26A7_ENST00000523719.1_Silent_p.A325A	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CCTCACTGGCTCTTGCTCAAG	0.502																																						uc003yex.2		NA																	0				ovary(2)	2						c.(973-975)GCT>GCC		solute carrier family 26, member 7 isoform a							113.0	102.0	106.0					8																	92352728		2203	4300	6503	SO:0001819	synonymous_variant	115111					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	g.chr8:92352728T>C	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.975T>C	8.37:g.92352728T>C						SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Silent_p.A325A|SLC26A7_uc003yfa.2_Silent_p.A325A	p.A325A	NM_052832	NP_439897	Q8TE54	S26A7_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00802)		9	1253	+			325			Helical; (Potential).			Silent	SNP	ENST00000276609.3	37	c.975T>C	CCDS6254.1	.	.	.	.	.	.	.	.	.	.	T	10.79	1.449669	0.26074	.	.	ENSG00000147606	ENST00000520818	.	.	.	5.72	1.75	0.24633	.	.	.	.	.	T	0.51975	0.1706	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40924	-0.9537	4	.	.	.	.	5.4798	0.16717	0.1222:0.2494:0.0:0.6284	.	.	.	.	P	193	.	.	L	+	2	0	SLC26A7	92421904	0.990000	0.36364	1.000000	0.80357	0.999000	0.98932	0.005000	0.13129	0.538000	0.28769	0.533000	0.62120	CTC		0.502	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1			21	106	0	0	0	0	21	106				
CSMD3	114788	broad.mit.edu	37	8	113249437	113249437	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr8:113249437T>C	ENST00000297405.5	-	67	10853	c.10609A>G	c.(10609-10611)Atg>Gtg	p.M3537V	CSMD3_ENST00000343508.3_Missense_Mutation_p.M3497V|CSMD3_ENST00000455883.2_Missense_Mutation_p.M3368V|CSMD3_ENST00000352409.3_Missense_Mutation_p.M3467V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3537						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGCAGCTCCATGTTGCTATTG	0.358										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(10609-10611)ATG>GTG		CUB and Sushi multiple domains 3 isoform 1							205.0	187.0	193.0					8																	113249437		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113249437T>C	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10609A>G	8.37:g.113249437T>C	ENSP00000297405:p.Met3537Val	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.M2739V|CSMD3_uc003ynt.2_Missense_Mutation_p.M3497V|CSMD3_uc011lhx.1_Missense_Mutation_p.M3368V	p.M3537V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			67	10768	-			3537			Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.10609A>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	2.175	-0.388996	0.04932	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.19669	2.43;2.43;2.45;2.13;2.44	4.87	4.87	0.63330	.	0.057242	0.64402	D	0.000003	T	0.07818	0.0196	N	0.02916	-0.46	0.36176	D	0.849083	B;B;B	0.22983	0.002;0.001;0.078	B;B;B	0.29176	0.003;0.001;0.099	T	0.21008	-1.0258	10	0.02654	T	1	.	9.1911	0.37200	0.0:0.081:0.0:0.919	.	3368;3537;3497	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	V	3497;3537;2807;3368;3467	ENSP00000345799:M3497V;ENSP00000297405:M3537V;ENSP00000341558:M2807V;ENSP00000412263:M3368V;ENSP00000343124:M3467V	ENSP00000297405:M3537V	M	-	1	0	CSMD3	113318613	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	2.016000	0.40971	2.034000	0.60081	0.383000	0.25322	ATG		0.358	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		17	126	0	0	0	0	17	126				
CSMD3	114788	broad.mit.edu	37	8	113347673	113347673	+	Silent	SNP	G	G	A	rs142588028		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr8:113347673G>A	ENST00000297405.5	-	45	7294	c.7050C>T	c.(7048-7050)atC>atT	p.I2350I	CSMD3_ENST00000343508.3_Silent_p.I2310I|CSMD3_ENST00000455883.2_Silent_p.I2246I|CSMD3_ENST00000352409.3_Silent_p.I2280I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2350	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.I2350I(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGAACTGACCGATCTGAGGTG	0.403										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(7048-7050)ATC>ATT		CUB and Sushi multiple domains 3 isoform 1		G	,,	1,4405	2.1+/-5.4	0,1,2202	120.0	108.0	112.0		6738,7050,6930	-9.3	0.2	8	dbSNP_134	112	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	CSMD3	NM_052900.2,NM_198123.1,NM_198124.1	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	2246/3539,2350/3708,2310/3668	113347673	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113347673G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7050C>T	8.37:g.113347673G>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Silent_p.I1552I|CSMD3_uc003ynt.2_Silent_p.I2310I|CSMD3_uc011lhx.1_Silent_p.I2246I|CSMD3_uc003ynw.1_Silent_p.I61I	p.I2350I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			45	7209	-			2350			Extracellular (Potential).|CUB 13.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.7050C>T	CCDS6315.1																																																																																				0.403	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		33	13	0	0	0	0	33	13				
PCSK5	5125	broad.mit.edu	37	9	78796390	78796390	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr9:78796390G>A	ENST00000545128.1	+	16	2618	c.2080G>A	c.(2080-2082)Gag>Aag	p.E694K	PCSK5_ENST00000376752.4_Missense_Mutation_p.E694K	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	694	CRM (Cys-rich motif).				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CCCCAACTGTGAGTCCTGCTT	0.517																																						uc004ajz.2		NA																	0				ovary(2)|skin(1)	3						c.(2080-2082)GAG>AAG		proprotein convertase subtilisin/kexin type 5							109.0	91.0	97.0					9																	78796390		2203	4300	6503	SO:0001583	missense	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78796390G>A		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.2080G>A	9.37:g.78796390G>A	ENSP00000446280:p.Glu694Lys					PCSK5_uc004aka.2_RNA|PCSK5_uc004akb.2_5'UTR	p.E694K	NM_006200	NP_006191	Q92824	PCSK5_HUMAN			16	2618	+			694			CRM (Cys-rich motif).		F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	c.2080G>A	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	G	34	5.302752	0.95601	.	.	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000376752;ENST00000424854	T;D;T	0.86694	0.99;-2.16;0.99	6.06	6.06	0.98353	.	0.138178	0.64402	D	0.000004	T	0.81307	0.4795	N	0.16790	0.44	0.80722	D	1	B	0.14438	0.01	B	0.15870	0.014	T	0.73936	-0.3825	10	0.52906	T	0.07	-19.2052	20.6208	0.99490	0.0:0.0:1.0:0.0	.	694	Q92824-2	.	K	694;397;694;367	ENSP00000446280:E694K;ENSP00000365943:E694K;ENSP00000411654:E367K	ENSP00000365943:E694K	E	+	1	0	PCSK5	77986210	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	9.476000	0.97823	2.882000	0.98803	0.655000	0.94253	GAG		0.517	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				15	49	0	0	0	0	15	49				
CRB2	286204	broad.mit.edu	37	9	126125359	126125359	+	Missense_Mutation	SNP	C	C	T	rs200091031		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr9:126125359C>T	ENST00000373631.3	+	2	311	c.310C>T	c.(310-312)Cgc>Tgc	p.R104C	CRB2_ENST00000359999.3_Missense_Mutation_p.R104C	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	104	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CCAGGGCCCACGCTGCGAGCT	0.682													C|||	1	0.000199681	0.0	0.0014	5008	,	,		14740	0.0		0.0	False		,,,				2504	0.0					uc004bnx.1		NA																	0				ovary(1)	1						c.(310-312)CGC>TGC		crumbs homolog 2 precursor							40.0	36.0	38.0					9																	126125359		2202	4299	6501	SO:0001583	missense	286204					extracellular region|integral to membrane|plasma membrane	calcium ion binding	g.chr9:126125359C>T	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"""crumbs homolog 2 (Drosophila)"""			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.310C>T	9.37:g.126125359C>T	ENSP00000362734:p.Arg104Cys					CRB2_uc004bnw.1_Missense_Mutation_p.R104C	p.R104C	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN			2	402	+			104			Extracellular (Potential).|EGF-like 1.		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	ENST00000373631.3	37	c.310C>T	CCDS6852.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	16.65	3.182627	0.57800	.	.	ENSG00000148204	ENST00000359999;ENST00000373631	T;T	0.79653	-1.29;-1.29	4.98	4.98	0.66077	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.728621	0.11863	N	0.522233	D	0.87233	0.6126	M	0.88979	2.995	0.19775	N	0.999959	D;D	0.69078	0.995;0.997	P;P	0.50708	0.549;0.648	T	0.80688	-0.1271	10	0.49607	T	0.09	.	12.7995	0.57578	0.1644:0.8356:0.0:0.0	.	104;104	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	C	104	ENSP00000353092:R104C;ENSP00000362734:R104C	ENSP00000353092:R104C	R	+	1	0	CRB2	125165180	0.000000	0.05858	0.080000	0.20451	0.829000	0.46940	-0.150000	0.10189	2.602000	0.87976	0.549000	0.68633	CGC		0.682	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		8	39	0	0	0	0	8	39				
FAM102A	399665	broad.mit.edu	37	9	130712724	130712724	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr9:130712724C>T	ENST00000373095.1	-	4	767	c.392G>A	c.(391-393)cGc>cAc	p.R131H	FAM102A_ENST00000300434.3_5'UTR|FAM102A_ENST00000373084.4_5'UTR	NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A	131										breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						GTTGTCCTGGCGAGTGTTCTT	0.602																																						uc004bsx.1		NA																	0				ovary(1)	1						c.(391-393)CGC>CAC		early estrogen-induced gene 1 protein isoform a							178.0	129.0	145.0					9																	130712724		2203	4300	6503	SO:0001583	missense	399665							g.chr9:130712724C>T		CCDS6888.1, CCDS35150.1	9q34.11	2012-11-05	2005-11-17	2005-11-17	ENSG00000167106	ENSG00000167106			31419	protein-coding gene	gene with protein product	"""sym-3 homolog A (C. elegans)"""	610891	"""chromosome 9 open reading frame 132"""	C9orf132			Standard	NM_001035254		Approved	Eeig1, bA203J24.7, SYM-3A	uc004bsx.2	Q5T9C2	OTTHUMG00000020720	ENST00000373095.1:c.392G>A	9.37:g.130712724C>T	ENSP00000362187:p.Arg131His					FAM102A_uc004bsw.1_5'UTR|FAM102A_uc004bsy.1_5'Flank	p.R131H	NM_001035254	NP_001030331	Q5T9C2	F102A_HUMAN			4	471	-			131					A2A329|Q8TEL4	Missense_Mutation	SNP	ENST00000373095.1	37	c.392G>A	CCDS35150.1	.	.	.	.	.	.	.	.	.	.	c	16.82	3.229508	0.58777	.	.	ENSG00000167106	ENST00000373095	T	0.43688	0.94	5.12	4.22	0.49857	.	0.000000	0.85682	D	0.000000	T	0.69940	0.3167	M	0.91872	3.25	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76833	-0.2813	10	0.87932	D	0	-11.0044	12.5819	0.56394	0.0:0.9183:0.0:0.0817	.	131	Q5T9C2	F102A_HUMAN	H	131	ENSP00000362187:R131H	ENSP00000362187:R131H	R	-	2	0	FAM102A	129752545	1.000000	0.71417	0.666000	0.29783	0.013000	0.08279	6.018000	0.70811	1.153000	0.42468	-0.355000	0.07637	CGC		0.602	FAM102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054298.2			19	102	0	0	0	0	19	102				
PHKA2	5256	broad.mit.edu	37	X	18949759	18949759	+	Splice_Site	SNP	C	C	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chrX:18949759C>A	ENST00000379942.4	-	12	1910	c.1245G>T	c.(1243-1245)gaG>gaT	p.E415D		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	415					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					AAGCCCCTACCTCTGCCAACA	0.552											OREG0019698	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004cyv.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1243-1245)GAG>GAT		phosphorylase kinase, alpha 2 (liver)							209.0	178.0	188.0					X																	18949759		2203	4300	6503	SO:0001630	splice_region_variant	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18949759C>A		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.1245+1G>T	X.37:g.18949759C>A			OREG0019698	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	729		p.E415D	NM_000292	NP_000283	P46019	KPB2_HUMAN			12	1675	-	Hepatocellular(33;0.183)		415					A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	ENST00000379942.4	37	c.1245G>T	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	c	20.3	3.964863	0.74131	.	.	ENSG00000044446	ENST00000379942	D	0.93307	-3.2	5.28	5.28	0.74379	Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.91250	0.7242	L	0.46819	1.47	0.80722	D	1	B	0.17465	0.022	B	0.26969	0.075	D	0.87468	0.2412	9	.	.	.	-25.2478	18.2663	0.90053	0.0:1.0:0.0:0.0	.	415	P46019	KPB2_HUMAN	D	415	ENSP00000369274:E415D	.	E	-	3	2	PHKA2	18859680	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.770000	0.85390	2.338000	0.79540	0.591000	0.81541	GAG		0.552	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292	Missense_Mutation	31	130	1	0	2.71e-09	3.41e-09	31	130				
SYTL5	94122	broad.mit.edu	37	X	37984588	37984588	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chrX:37984588A>G	ENST00000357972.5	+	16	2425	c.1879A>G	c.(1879-1881)Aaa>Gaa	p.K627E	TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000456733.2_Missense_Mutation_p.K649E|SYTL5_ENST00000297875.2_Missense_Mutation_p.K627E			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	627	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						CACCAAGCACAAAACTCTGGT	0.403																																						uc004ddu.2		NA																	0				skin(1)	1						c.(1879-1881)AAA>GAA		synaptotagmin-like 5 isoform 1							102.0	90.0	94.0					X																	37984588		2202	4300	6502	SO:0001583	missense	94122				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding	g.chrX:37984588A>G		CCDS14244.1, CCDS55399.1	Xp21.1	2008-02-05			ENSG00000147041	ENSG00000147041			15589	protein-coding gene	gene with protein product	"""exophilin 9"""						Standard	NM_138780		Approved		uc004ddx.3	Q8TDW5	OTTHUMG00000033176	ENST00000357972.5:c.1879A>G	X.37:g.37984588A>G	ENSP00000350657:p.Lys627Glu					SYTL5_uc004ddv.2_Missense_Mutation_p.K627E|SYTL5_uc004ddx.2_Missense_Mutation_p.K649E	p.K627E	NM_001163335	NP_001156807	Q8TDW5	SYTL5_HUMAN			17	2413	+			627			C2 2.		A2RRF2	Missense_Mutation	SNP	ENST00000357972.5	37	c.1879A>G	CCDS14244.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.810069	0.90707	.	.	ENSG00000147041	ENST00000297875;ENST00000357972;ENST00000456733	T;T;T	0.11495	2.77;2.77;2.77	5.57	5.57	0.84162	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.36082	0.0954	M	0.81239	2.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.21793	-1.0235	10	0.87932	D	0	-18.8158	14.7801	0.69760	1.0:0.0:0.0:0.0	.	649;627	A2RRF2;Q8TDW5	.;SYTL5_HUMAN	E	627;627;649	ENSP00000297875:K627E;ENSP00000350657:K627E;ENSP00000395220:K649E	ENSP00000297875:K627E	K	+	1	0	SYTL5	37869532	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.298000	0.96132	1.872000	0.54250	0.417000	0.27973	AAA		0.403	SYTL5-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080883.1	NM_138780		10	24	0	0	0	0	10	24				
AKAP4	8852	broad.mit.edu	37	X	49957377	49957377	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chrX:49957377C>A	ENST00000376056.2	-	5	2110	c.1960G>T	c.(1960-1962)Gca>Tca	p.A654S	AKAP4_ENST00000358526.2_Missense_Mutation_p.A663S|AKAP4_ENST00000376064.3_Missense_Mutation_p.A654S|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Missense_Mutation_p.A280S					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					ATGGAAGCTGCTTTGCTTGCC	0.478																																						uc004dow.1		NA																	0				kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	8						c.(1987-1989)GCA>TCA		A-kinase anchor protein 4 isoform 1							139.0	96.0	110.0					X																	49957377		2203	4300	6503	SO:0001583	missense	8852				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	g.chrX:49957377C>A	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.1960G>T	X.37:g.49957377C>A	ENSP00000365224:p.Ala654Ser					AKAP4_uc004dov.1_Missense_Mutation_p.A280S|AKAP4_uc010njp.1_Missense_Mutation_p.A485S|AKAP4_uc004dou.1_Missense_Mutation_p.A654S	p.A663S	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN			5	2111	-	Ovarian(276;0.236)		663						Missense_Mutation	SNP	ENST00000376056.2	37	c.1987G>T	CCDS14330.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.592527	0.00126	.	.	ENSG00000147081	ENST00000376056;ENST00000376058;ENST00000358526;ENST00000376064	T;T;T;T	0.06068	3.35;3.35;3.35;3.35	5.14	-5.68	0.02436	A-kinase anchor 110kDa, C-terminal (1);	1.955520	0.02533	N	0.093813	T	0.03651	0.0104	N	0.13043	0.29	0.09310	N	1	B;B	0.21225	0.0;0.053	B;B	0.23574	0.003;0.047	T	0.39251	-0.9623	9	.	.	.	0.466	5.1034	0.14772	0.5562:0.2608:0.1018:0.0812	.	663;280	Q5JQC9;A6ND82	AKAP4_HUMAN;.	S	654;280;663;654	ENSP00000365224:A654S;ENSP00000365226:A280S;ENSP00000351327:A663S;ENSP00000365232:A654S	.	A	-	1	0	AKAP4	49844117	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.080000	0.03407	-1.051000	0.03226	-0.343000	0.07986	GCA		0.478	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		11	47	1	0	3.86e-05	4.64e-05	11	47				
TRO	7216	broad.mit.edu	37	X	54955308	54955308	+	Silent	SNP	C	C	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chrX:54955308C>A	ENST00000173898.7	+	12	2263	c.2151C>A	c.(2149-2151)gcC>gcA	p.A717A	TRO_ENST00000375022.4_Intron|TRO_ENST00000319167.8_Intron|SNORA11_ENST00000408823.1_RNA|TRO_ENST00000399736.1_Intron|TRO_ENST00000375041.2_Silent_p.A320A|TRO_ENST00000420798.2_Silent_p.A248A	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	717					embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						ATGCAGATGCCAGCACCAACG	0.512																																						uc004dtq.2		NA																	0				ovary(1)	1						c.(2149-2151)GCC>GCA		trophinin isoform 5							52.0	52.0	52.0					X																	54955308		2032	4193	6225	SO:0001819	synonymous_variant	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54955308C>A	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.2151C>A	X.37:g.54955308C>A						TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_Intron|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Silent_p.A248A|TRO_uc004dtw.2_Silent_p.A320A|TRO_uc004dtx.2_Silent_p.A100A	p.A717A	NM_001039705	NP_001034794	Q12816	TROP_HUMAN			12	2258	+			717					B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Silent	SNP	ENST00000173898.7	37	c.2151C>A	CCDS43959.1																																																																																				0.512	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		21	33	1	0	1.02e-10	1.3e-10	21	33				
ZXDB	158586	broad.mit.edu	37	X	57619372	57619372	+	Silent	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chrX:57619372C>T	ENST00000374888.1	+	1	1104	c.891C>T	c.(889-891)agC>agT	p.S297S		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	297	Required for interaction with ZXDC. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CGCACAGCAGCAGCCAGGGCC	0.642																																						uc004dvd.2		NA																	0					0						c.(889-891)AGC>AGT		zinc finger, X-linked, duplicated B							11.0	11.0	11.0					X																	57619372		2195	4285	6480	SO:0001819	synonymous_variant	158586				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chrX:57619372C>T	L14788	CCDS35313.1	Xp11.1	2013-01-08			ENSG00000198455	ENSG00000198455		"""Zinc fingers, C2H2-type"""	13199	protein-coding gene	gene with protein product		300236				8268913	Standard	NM_007157		Approved	ZNF905	uc004dvd.3	P98169	OTTHUMG00000021685	ENST00000374888.1:c.891C>T	X.37:g.57619372C>T							p.S297S	NM_007157	NP_009088	P98169	ZXDB_HUMAN			1	1104	+			297			Required for interaction with ZXDC (By similarity).		A8K151|Q9UBB3	Silent	SNP	ENST00000374888.1	37	c.891C>T	CCDS35313.1																																																																																				0.642	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056922.1	NM_007157		4	12	0	0	0	0	4	12				
ZXDA	7789	broad.mit.edu	37	X	57936696	57936696	+	Silent	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chrX:57936696G>A	ENST00000358697.4	-	1	371	c.159C>T	c.(157-159)ggC>ggT	p.G53G		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	53					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						gcccgggcccgccATCTTGGG	0.786																																						uc004dve.2		NA																	0				ovary(1)	1						c.(157-159)GGC>GGT		zinc finger, X-linked, duplicated A							2.0	3.0	3.0					X																	57936696		1011	2505	3516	SO:0001819	synonymous_variant	7789				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:57936696G>A	L14787	CCDS14376.1	Xp11.21	2013-01-08			ENSG00000198205	ENSG00000198205		"""Zinc fingers, C2H2-type"""	13198	protein-coding gene	gene with protein product	"""zinc finger protein 896"""	300235				8268913	Standard	NM_007156		Approved	ZNF896	uc004dve.3	P98168	OTTHUMG00000021688	ENST00000358697.4:c.159C>T	X.37:g.57936696G>A							p.G53G	NM_007156	NP_009087	P98168	ZXDA_HUMAN			1	372	-			53					Q9UJP7	Silent	SNP	ENST00000358697.4	37	c.159C>T	CCDS14376.1																																																																																				0.786	ZXDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056925.1	NM_007156		7	12	0	0	0	0	7	12				
MAGT1	84061	broad.mit.edu	37	X	77112872	77112872	+	Silent	SNP	G	G	A	rs186479035		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chrX:77112872G>A	ENST00000358075.6	-	4	695	c.609C>T	c.(607-609)gcC>gcT	p.A203A		NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	171					cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)			cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						CAGTTCTGTCGGCGATCCACC	0.468																																						uc004fof.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(607-609)GCC>GCT		magnesium transporter 1							176.0	161.0	166.0					X																	77112872		2203	4296	6499	SO:0001819	synonymous_variant	84061				protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		g.chrX:77112872G>A		CCDS14436.2	Xq21.1	2014-09-17			ENSG00000102158	ENSG00000102158			28880	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 3 homolog B (S. cerevisiae)"""	300715				15804357	Standard	NM_032121		Approved	DKFZp564K142, IAP, OST3B, MRX95	uc004fof.3	Q9H0U3	OTTHUMG00000021882	ENST00000358075.6:c.609C>T	X.37:g.77112872G>A						MAGT1_uc004fog.3_Intron	p.A203A	NM_032121	NP_115497	Q9H0U3	MAGT1_HUMAN			4	671	-			171					B2RAR4|D3DTE3|Q53G00|Q6P577|Q8NBN6	Silent	SNP	ENST00000358075.6	37	c.609C>T	CCDS14436.2																																																																																				0.468	MAGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057301.2	NM_032121		63	153	0	0	0	0	63	153				
BRWD3	254065	broad.mit.edu	37	X	79978124	79978124	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chrX:79978124C>T	ENST00000373275.4	-	17	2029	c.1813G>A	c.(1813-1815)Gta>Ata	p.V605I	BRWD3_ENST00000473691.1_5'Flank	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	605					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CGTCCTGGTACCAACCGTTGG	0.403																																						uc004edt.2		NA																	0				ovary(4)	4						c.(1813-1815)GTA>ATA		bromodomain and WD repeat domain containing 3							143.0	123.0	130.0					X																	79978124		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79978124C>T		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.1813G>A	X.37:g.79978124C>T	ENSP00000362372:p.Val605Ile					BRWD3_uc010nmi.1_5'Flank|BRWD3_uc004edo.2_Missense_Mutation_p.V201I|BRWD3_uc004edp.2_Missense_Mutation_p.V434I|BRWD3_uc004edq.2_Missense_Mutation_p.V201I|BRWD3_uc010nmj.1_Missense_Mutation_p.V201I|BRWD3_uc004edr.2_Missense_Mutation_p.V275I|BRWD3_uc004eds.2_Missense_Mutation_p.V201I|BRWD3_uc004edu.2_Missense_Mutation_p.V275I|BRWD3_uc004edv.2_Missense_Mutation_p.V201I|BRWD3_uc004edw.2_Missense_Mutation_p.V201I|BRWD3_uc004edx.2_Missense_Mutation_p.V201I|BRWD3_uc004edy.2_Missense_Mutation_p.V201I|BRWD3_uc004edz.2_Missense_Mutation_p.V275I|BRWD3_uc004eea.2_Missense_Mutation_p.V275I|BRWD3_uc004eeb.2_Missense_Mutation_p.V201I	p.V605I	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN			17	2076	-			605					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.1813G>A	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.336431	0.81801	.	.	ENSG00000165288	ENST00000373275	T	0.60548	0.18	4.7	4.7	0.59300	.	0.000000	0.64402	D	0.000001	T	0.78253	0.4254	M	0.84846	2.72	0.58432	D	0.999991	D	0.76494	0.999	D	0.75020	0.985	T	0.81573	-0.0871	9	.	.	.	-11.3121	17.0991	0.86644	0.0:1.0:0.0:0.0	.	605	Q6RI45	BRWD3_HUMAN	I	605	ENSP00000362372:V605I	.	V	-	1	0	BRWD3	79864780	1.000000	0.71417	0.939000	0.37840	0.629000	0.37895	7.320000	0.79064	2.304000	0.77564	0.544000	0.68410	GTA		0.403	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		4	33	0	0	0	0	4	33				
MORF4L2	9643	broad.mit.edu	37	X	102931661	102931661	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chrX:102931661G>A	ENST00000441076.2	-	4	599	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	MORF4L2_ENST00000433176.2_Missense_Mutation_p.R99W|MORF4L2_ENST00000492116.1_5'UTR|MORF4L2_ENST00000451301.1_Missense_Mutation_p.R99W|MORF4L2_ENST00000423833.2_Missense_Mutation_p.R99W|MORF4L2_ENST00000360458.1_Missense_Mutation_p.R99W|MORF4L2_ENST00000422154.2_Missense_Mutation_p.R99W	NM_001142419.1|NM_012286.2	NP_001135891.1|NP_036418.1	Q15014	MO4L2_HUMAN	mortality factor 4 like 2	99					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA repair (GO:0006281)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						CTTTTCTTCCGAGGGGGCTGA	0.512																																						uc004ekw.2		NA																	0					0						c.(295-297)CGG>TGG		mortality factor 4 like 2							64.0	69.0	67.0					X																	102931661		2203	4300	6503	SO:0001583	missense	9643				chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding	g.chrX:102931661G>A	AF100620	CCDS14512.1	Xq22	2010-11-24			ENSG00000123562	ENSG00000123562			16849	protein-coding gene	gene with protein product	"""MORF-related gene X"""	300409				9891081, 7584026	Standard	NM_012286		Approved	KIAA0026, MRGX	uc011msa.2	Q15014	OTTHUMG00000022104	ENST00000441076.2:c.295C>T	X.37:g.102931661G>A	ENSP00000391969:p.Arg99Trp					MORF4L2_uc004ela.2_Missense_Mutation_p.R99W|MORF4L2_uc004ekx.2_Missense_Mutation_p.R99W|MORF4L2_uc004elb.2_Missense_Mutation_p.R99W|MORF4L2_uc004eky.2_Missense_Mutation_p.R99W|MORF4L2_uc010nos.2_Missense_Mutation_p.R99W|MORF4L2_uc004ekz.2_Missense_Mutation_p.R99W|MORF4L2_uc011mry.1_Missense_Mutation_p.R99W|MORF4L2_uc011mrz.1_Missense_Mutation_p.R99W|MORF4L2_uc004elc.2_Missense_Mutation_p.R99W|MORF4L2_uc004elf.2_Missense_Mutation_p.R99W|MORF4L2_uc004ele.2_Missense_Mutation_p.R99W|MORF4L2_uc011msa.1_Missense_Mutation_p.R99W|MORF4L2_uc011msb.1_Missense_Mutation_p.R99W|MORF4L2_uc011msc.1_Missense_Mutation_p.R99W|MORF4L2_uc011msd.1_Missense_Mutation_p.R99W|MORF4L2_uc004eld.2_Missense_Mutation_p.R99W	p.R99W	NM_012286	NP_036418	Q15014	MO4L2_HUMAN			4	1527	-			99					B3KP92|D3DXA5|Q567V0|Q8J026	Missense_Mutation	SNP	ENST00000441076.2	37	c.295C>T	CCDS14512.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.280342	0.23392	.	.	ENSG00000123562	ENST00000360458;ENST00000433176;ENST00000422154;ENST00000451301;ENST00000372619;ENST00000441076;ENST00000423833;ENST00000434230;ENST00000418819;ENST00000442614	T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;1.31	4.38	3.51	0.40186	.	0.000000	0.85682	D	0.000000	T	0.44726	0.1307	M	0.89478	3.035	0.53688	D	0.999973	B	0.24533	0.105	B	0.24155	0.051	T	0.51228	-0.8732	10	0.62326	D	0.03	-19.0198	10.8856	0.46965	0.0:0.0:0.8112:0.1888	.	99	Q15014	MO4L2_HUMAN	W	99;99;99;99;81;99;99;99;99;99	ENSP00000353643:R99W;ENSP00000415476:R99W;ENSP00000394417:R99W;ENSP00000410532:R99W;ENSP00000391969:R99W;ENSP00000416120:R99W	ENSP00000353643:R99W	R	-	1	2	MORF4L2	102818317	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.129000	0.50500	1.186000	0.42985	-0.222000	0.12452	CGG		0.512	MORF4L2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057732.1	NM_012286		34	134	0	0	0	0	34	134				
DCAF12L1	139170	broad.mit.edu	37	X	125686191	125686191	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chrX:125686191G>C	ENST00000371126.1	-	1	643	c.401C>G	c.(400-402)cCc>cGc	p.P134R		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	134										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CCGCAAGAGGGGAATGCGCGC	0.632																																						uc004eul.2		NA																	0				skin(3)|ovary(1)	4						c.(400-402)CCC>CGC		DDB1 and CUL4 associated factor 12-like 1							112.0	90.0	97.0					X																	125686191		2203	4300	6503	SO:0001583	missense	139170							g.chrX:125686191G>C	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.401C>G	X.37:g.125686191G>C	ENSP00000360167:p.Pro134Arg						p.P134R	NM_178470	NP_848565	Q5VU92	DC121_HUMAN			1	652	-			134					Q8IYK3	Missense_Mutation	SNP	ENST00000371126.1	37	c.401C>G	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.555323	0.27739	.	.	ENSG00000198889	ENST00000371126	T	0.50813	0.73	4.15	2.29	0.28610	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.65678	0.2714	M	0.82716	2.605	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.52351	-0.8587	9	0.52906	T	0.07	.	5.5722	0.17202	0.1196:0.1982:0.6822:0.0	.	134	Q5VU92	DC121_HUMAN	R	134	ENSP00000360167:P134R	ENSP00000360167:P134R	P	-	2	0	DCAF12L1	125513872	1.000000	0.71417	0.000000	0.03702	0.165000	0.22458	4.202000	0.58446	0.312000	0.23038	0.424000	0.28305	CCC		0.632	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		17	72	0	0	0	0	17	72				
SLC2A1	6513	broad.mit.edu	37	1	43395563	43395564	+	Frame_Shift_Ins	INS	-	-	TCGT			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr1:43395563_43395564insTCGT	ENST00000426263.3	-	5	837_838	c.659_660insACGA	c.(658-660)gagfs	p.-220fs	SLC2A1_ENST00000415851.2_Intron|SLC2A1_ENST00000475162.1_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1						carbohydrate metabolic process (GO:0005975)|cellular response to glucose starvation (GO:0042149)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|protein complex assembly (GO:0006461)|regulation of insulin secretion (GO:0050796)|response to osmotic stress (GO:0006970)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|female pronucleus (GO:0001939)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|identical protein binding (GO:0042802)|protein self-association (GO:0043621)|xenobiotic transporter activity (GO:0042910)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	CCCGGTTCTCCTCGTTGCGGTT	0.653																																						uc001cik.2		NA																	0				central_nervous_system(2)|pancreas(2)|ovary(1)	5						c.(658-660)GAGfs		solute carrier family 2 (facilitated glucose	Etomidate(DB00292)																																			SO:0001589	frameshift_variant	6513				carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr1:43395563_43395564insTCGT	K03195	CCDS477.1	1p34.2	2013-05-22			ENSG00000117394	ENSG00000117394		"""Solute carriers"""	11005	protein-coding gene	gene with protein product		138140	"""human T-cell leukemia virus (I and II) receptor"""	GLUT1, GLUT, HTLVR		8839927, 14622599, 18451999	Standard	NM_006516		Approved	DYT18	uc001cik.2	P11166	OTTHUMG00000007657	ENST00000426263.3:c.656_659dupACGA	1.37:g.43395564_43395567dupTCGT	ENSP00000416293:p.Glu220fs						p.E220fs	NM_006516	NP_006507	P11166	GTR1_HUMAN			5	1184_1185	-	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)	220			Cytoplasmic (Potential).		A8K9S6|B2R620|D3DPX0|O75535|Q147X2	Frame_Shift_Ins	INS	ENST00000426263.3	37	c.659_660insACGA	CCDS477.1																																																																																				0.653	SLC2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020358.2	NM_006516		21	134	NA	NA	NA	NA	21	134	---	---	---	---
STIL	6491	broad.mit.edu	37	1	47726187	47726202	+	Frame_Shift_Del	DEL	TATTTAATAGGTGGTT	TATTTAATAGGTGGTT	-			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr1:47726187_47726202delTATTTAATAGGTGGTT	ENST00000360380.3	-	17	3199_3214	c.2836_2851delAACCACCTATTAAATA	c.(2836-2853)aaccacctattaaatagtfs	p.NHLLNS946fs	STIL_ENST00000243182.6_Frame_Shift_Del_p.NHLLNS946fs|STIL_ENST00000396221.2_Frame_Shift_Del_p.NHLLNS929fs|STIL_ENST00000337817.5_Frame_Shift_Del_p.NHLLNS946fs|STIL_ENST00000371877.3_Frame_Shift_Del_p.NHLLNS947fs	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	946					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TTGGAGGAACTATTTAATAGGTGGTTTACTTGACCC	0.37																																						uc001crc.1		NA																	0				lung(2)|skin(1)	3						c.(2836-2853)AACCACCTATTAAATAGTfs		SCL/TAL1 interrupting locus isoform 2																																				SO:0001589	frameshift_variant	6491				cell proliferation|multicellular organismal development	centrosome|cytosol		g.chr1:47726187_47726202delTATTTAATAGGTGGTT	M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"""TAL1 (SCL) interrupting locus"""	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.2836_2851delAACCACCTATTAAATA	1.37:g.47726187_47726202delTATTTAATAGGTGGTT	ENSP00000353544:p.Asn946fs					TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Frame_Shift_Del_p.N900fs|STIL_uc010omo.1_Frame_Shift_Del_p.N929fs|STIL_uc001crd.1_Frame_Shift_Del_p.N947fs|STIL_uc001cre.1_Frame_Shift_Del_p.N946fs|STIL_uc001crf.1_Frame_Shift_Del_p.N559fs|STIL_uc001crg.1_Frame_Shift_Del_p.N882fs	p.N946fs	NM_003035	NP_003026	Q15468	STIL_HUMAN			16	2991_3006	-		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)	946_951					Q5T0C5|Q68CN9	Frame_Shift_Del	DEL	ENST00000360380.3	37	c.2836_2851delAACCACCTATTAAATA	CCDS548.1																																																																																				0.370	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	NM_003035		26	120	NA	NA	NA	NA	26	120	---	---	---	---
DNHD1	144132	broad.mit.edu	37	11	6588483	6588483	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr11:6588483delC	ENST00000527990.2	+	34	11744	c.11744delC	c.(11743-11745)accfs	p.T3915fs	DNHD1_ENST00000254579.6_Frame_Shift_Del_p.T3915fs			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3915					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GCACACCTGACCCGCCAGCTG	0.587																																						uc001mdw.3		NA																	0				ovary(2)	2						c.(11743-11745)ACCfs		dynein heavy chain domain 1 isoform 1							75.0	84.0	81.0					11																	6588483		2143	4248	6391	SO:0001589	frameshift_variant	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6588483delC	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.11744delC	11.37:g.6588483delC	ENSP00000436180:p.Thr3915fs					DNHD1_uc001mea.3_Frame_Shift_Del_p.T184fs|DNHD1_uc001meb.2_Frame_Shift_Del_p.T183fs|DNHD1_uc001mec.2_Frame_Shift_Del_p.T183fs|DNHD1_uc010rao.1_Frame_Shift_Del_p.T173fs|DNHD1_uc009yfg.2_5'Flank	p.T3915fs	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	36	12308	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	3915					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Frame_Shift_Del	DEL	ENST00000527990.2	37	c.11744delC	CCDS44532.1																																																																																				0.587	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		23	137	NA	NA	NA	NA	23	137	---	---	---	---
OR4M1	441670	broad.mit.edu	37	14	20249046	20249046	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr14:20249046delT	ENST00000315957.4	+	1	646	c.565delT	c.(565-567)tgtfs	p.C189fs		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCGGATTGCCTGTGCCAACAC	0.458																																						uc010tku.1		NA																	0					0						c.(565-567)TGTfs		olfactory receptor, family 4, subfamily M,							303.0	268.0	280.0					14																	20249046		2203	4297	6500	SO:0001589	frameshift_variant	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20249046delT		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.565delT	14.37:g.20249046delT	ENSP00000319654:p.Cys189fs						p.C189fs	NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	565	+	all_cancers(95;0.00108)		189			Extracellular (Potential).		B9EH18|Q6IFA3	Frame_Shift_Del	DEL	ENST00000315957.4	37	c.565delT	CCDS32021.1																																																																																				0.458	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			37	271	NA	NA	NA	NA	37	271	---	---	---	---
OTX2	5015	broad.mit.edu	37	14	57268457	57268457	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr14:57268457delA	ENST00000555006.1	-	4	1274	c.866delT	c.(865-867)ttgfs	p.L289fs	OTX2_ENST00000339475.5_Frame_Shift_Del_p.L297fs|RP11-1085N6.6_ENST00000602485.1_lincRNA|OTX2_ENST00000408990.3_Frame_Shift_Del_p.L289fs			P32243	OTX2_HUMAN	orthodenticle homeobox 2	289					axon guidance (GO:0007411)|cell fate specification (GO:0001708)|diencephalon morphogenesis (GO:0048852)|dorsal/ventral pattern formation (GO:0009953)|endoderm development (GO:0007492)|eye photoreceptor cell fate commitment (GO:0042706)|forebrain development (GO:0030900)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|neuron fate determination (GO:0048664)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|protein complex assembly (GO:0006461)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of smoothened signaling pathway (GO:0008589)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|nucleus (GO:0005634)|protein complex (GO:0043234)	eukaryotic initiation factor 4E binding (GO:0008190)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					AGGTCTTCACAAAACCTGGAA	0.408																																						uc001xcp.2		NA																	0				ovary(1)	1						c.(865-867)TTGfs		orthodenticle homeobox 2 isoform b							51.0	56.0	54.0					14																	57268457		2202	4300	6502	SO:0001589	frameshift_variant	5015				axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	g.chr14:57268457delA	AF298117	CCDS9728.1, CCDS41960.1	14q22.3	2014-09-17	2007-02-15		ENSG00000165588	ENSG00000165588		"""Homeoboxes / PRD class"""	8522	protein-coding gene	gene with protein product		600037	"""orthodenticle homolog 2 (Drosophila)"""			7959790	Standard	NM_021728		Approved		uc031qor.1	P32243	OTTHUMG00000152338	ENST00000555006.1:c.866delT	14.37:g.57268457delA	ENSP00000452336:p.Leu289fs					OTX2_uc010aou.2_Frame_Shift_Del_p.L289fs|OTX2_uc001xcq.2_Frame_Shift_Del_p.L297fs	p.L289fs	NM_172337	NP_758840	P32243	OTX2_HUMAN			3	1037	-	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)		289					B2RAN5|Q6GTV3|Q9HAW3|Q9P2R1	Frame_Shift_Del	DEL	ENST00000555006.1	37	c.866delT	CCDS41960.1																																																																																				0.408	OTX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411522.1	NM_021728.		14	73	NA	NA	NA	NA	14	73	---	---	---	---
MMP15	4324	broad.mit.edu	37	16	58077474	58077475	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr16:58077474_58077475insG	ENST00000219271.3	+	9	2298_2299	c.1513_1514insG	c.(1513-1515)agtfs	p.S505fs		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	505					cellular protein modification process (GO:0006464)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)|response to estradiol (GO:0032355)	extracellular matrix (GO:0031012)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18					Marimastat(DB00786)	CAAGCCCATCAGTGTCTGGCAG	0.599																																						uc002ena.2		NA																	0				central_nervous_system(2)|breast(1)	3						c.(1513-1515)AGTfs		matrix metalloproteinase 15 preproprotein																																				SO:0001589	frameshift_variant	4324				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:58077474_58077475insG	Z48482	CCDS10792.1	16q13	2008-05-14	2005-08-08		ENSG00000102996	ENSG00000102996			7161	protein-coding gene	gene with protein product		602261	"""matrix metalloproteinase 15 (membrane-inserted)"""			9070935, 9119382	Standard	NM_002428		Approved	MT2-MMP, MTMMP2, SMCP-2	uc002ena.3	P51511	OTTHUMG00000133466	ENST00000219271.3:c.1514dupG	16.37:g.58077475_58077475dupG	ENSP00000219271:p.Ser505fs						p.S505fs	NM_002428	NP_002419	P51511	MMP15_HUMAN			9	2486_2487	+			505			Hemopexin-like 3.|Extracellular (Potential).		A0A2U6|Q14111	Frame_Shift_Ins	INS	ENST00000219271.3	37	c.1513_1514insG	CCDS10792.1																																																																																				0.599	MMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257342.1	NM_002428		11	39	NA	NA	NA	NA	11	39	---	---	---	---
PIP4K2B	8396	broad.mit.edu	37	17	36927448	36927450	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr17:36927448_36927450delCTC	ENST00000269554.3	-	8	1363_1365	c.883_885delGAG	c.(883-885)gagdel	p.E295del		NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	295	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cell surface receptor signaling pathway (GO:0007166)|intracellular signal transduction (GO:0035556)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|receptor signaling protein activity (GO:0005057)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						ccacctccatctcctcctgctcT	0.596																																						uc002hqs.2		NA																	0				ovary(1)	1						c.(883-885)GAGdel		phosphatidylinositol-5-phosphate 4-kinase, type																																				SO:0001651	inframe_deletion	8396				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity	g.chr17:36927448_36927450delCTC	U85245	CCDS11329.1	17q21.2	2007-08-14	2007-08-14	2007-08-14		ENSG00000276293	2.7.1.149		8998	protein-coding gene	gene with protein product		603261	"""phosphatidylinositol-4-phosphate 5-kinase, type II, beta"""	PIP5K2B		9038203, 14691457, 9367159	Standard	NM_003559		Approved	PIP5KIIB, PIP5KIIbeta	uc002hqs.3	P78356		ENST00000269554.3:c.883_885delGAG	17.37:g.36927451_36927453delCTC	ENSP00000269554:p.Glu295del					PIP4K2B_uc010cvp.2_5'Flank	p.E295del	NM_003559	NP_003550	P78356	PI42B_HUMAN			8	1364_1366	-			295			PIPK.		Q5U0E8|Q8TBP2	In_Frame_Del	DEL	ENST00000269554.3	37	c.883_885delGAG	CCDS11329.1																																																																																				0.596	PIP4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256791.1	NM_003559		8	40	NA	NA	NA	NA	8	40	---	---	---	---
CLEC4F	165530	broad.mit.edu	37	2	71044191	71044202	+	In_Frame_Del	DEL	TAAATGTCTGGA	TAAATGTCTGGA	-	rs368623325	byFrequency	TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr2:71044191_71044202delTAAATGTCTGGA	ENST00000272367.2	-	4	387_398	c.311_322delTCCAGACATTTA	c.(310-324)atccagacatttaaa>aaa	p.IQTF104del	CLEC4F_ENST00000426626.1_In_Frame_Del_p.IQTF104del	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	104					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						ATGTGGCCTTTAAATGTCTGGATAAGCTCTCG	0.491																																					Colon(107;10 2157 6841 26035)	uc002shf.2		NA																	0				ovary(5)	5						c.(310-324)ATCCAGACATTTAAA>AAA		C-type lectin, superfamily member 13																																				SO:0001651	inframe_deletion	165530				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr2:71044191_71044202delTAAATGTCTGGA	AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"""C-type lectin domain containing"""	25357	protein-coding gene	gene with protein product			"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"""	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.311_322delTCCAGACATTTA	2.37:g.71044191_71044202delTAAATGTCTGGA	ENSP00000272367:p.Ile104_Phe107del					CLEC4F_uc010yqv.1_In_Frame_Del_p.IQTF104del	p.IQTF104del	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN			4	388_399	-			104_107			Extracellular (Potential).		A4QPA5	In_Frame_Del	DEL	ENST00000272367.2	37	c.311_322delTCCAGACATTTA	CCDS1910.1																																																																																				0.491	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	NM_173535		7	51	NA	NA	NA	NA	7	51	---	---	---	---
PXMP4	11264	broad.mit.edu	37	20	32307907	32307911	+	Frame_Shift_Del	DEL	CCGTT	CCGTT	-			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr20:32307907_32307911delCCGTT	ENST00000409299.3	-	1	195_199	c.103_107delAACGG	c.(103-108)aacgggfs	p.NG35fs	PXMP4_ENST00000217398.3_Frame_Shift_Del_p.NG35fs|PXMP4_ENST00000344022.3_Frame_Shift_Del_p.NG35fs	NM_007238.4	NP_009169.3	Q9Y6I8	PXMP4_HUMAN	peroxisomal membrane protein 4, 24kDa	35						integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)				NS(1)|endometrium(2)|large_intestine(2)|lung(8)	13						TCACACAGCCCCGTTCCGGAAGCCC	0.688																																						uc002wzv.2		NA																	0					0						c.(103-108)AACGGGfs		peroxisomal membrane protein 4 isoform a																																				SO:0001589	frameshift_variant	11264					integral to membrane|membrane fraction|mitochondrial inner membrane|peroxisomal membrane	protein transporter activity	g.chr20:32307907_32307911delCCGTT	AF072864	CCDS13225.1, CCDS13226.1	20q11.22	2008-07-02	2002-08-29		ENSG00000101417	ENSG00000101417			15920	protein-coding gene	gene with protein product	"""24 kDa peroxisomal intrinsic membrane protein"""		"""peroxisomal membrane protein 4 (24kD)"""			10366717	Standard	NM_183397		Approved	PMP24	uc002wzv.3	Q9Y6I8	OTTHUMG00000032273	ENST00000409299.3:c.103_107delAACGG	20.37:g.32307907_32307911delCCGTT	ENSP00000386385:p.Asn35fs					PXMP4_uc002wzw.2_Frame_Shift_Del_p.N35fs|PXMP4_uc010zuh.1_Frame_Shift_Del_p.N35fs	p.N35fs	NM_007238	NP_009169	Q9Y6I8	PXMP4_HUMAN			1	226_230	-			35_36					A2A2I7|Q9H0T4	Frame_Shift_Del	DEL	ENST00000409299.3	37	c.103_107delAACGG	CCDS13225.1																																																																																				0.688	PXMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078739.2	NM_007238		14	92	NA	NA	NA	NA	14	92	---	---	---	---
NRIP1	8204	broad.mit.edu	37	21	16337046	16337049	+	Frame_Shift_Del	DEL	TTCT	TTCT	-			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr21:16337046_16337049delTTCT	ENST00000400202.1	-	3	4177_4180	c.3465_3468delAGAA	c.(3463-3468)aaagaafs	p.KE1155fs	AF127577.10_ENST00000446301.1_RNA|NRIP1_ENST00000318948.4_Frame_Shift_Del_p.KE1155fs|NRIP1_ENST00000400199.1_Frame_Shift_Del_p.KE1155fs			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	1155	Interaction with ZNF366.|Repression domain 4.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TTTATTCTGATTCTTTCTTTATCG	0.373																																						uc002yjx.2		NA																	0					0						c.(3463-3468)AAAGAAfs		nuclear receptor interacting protein 1				1,4263		0,1,2131						1.6	1.0			95	3,8249		0,3,4123	no	frameshift	NRIP1	NM_003489.3		0,4,6254	A1A1,A1R,RR		0.0364,0.0235,0.032				4,12512				SO:0001589	frameshift_variant	8204				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	g.chr21:16337046_16337049delTTCT	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.3465_3468delAGAA	21.37:g.16337050_16337053delTTCT	ENSP00000383063:p.Lys1155fs						p.K1155fs	NM_003489	NP_003480	P48552	NRIP1_HUMAN		Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)	4	4063_4066	-			1155_1156			Repression domain 4.		Q8IWE8	Frame_Shift_Del	DEL	ENST00000400202.1	37	c.3465_3468delAGAA	CCDS13568.1																																																																																				0.373	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489		23	58	NA	NA	NA	NA	23	58	---	---	---	---
C6	729	broad.mit.edu	37	5	41159257	41159257	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr5:41159257delG	ENST00000263413.3	-	12	2047	c.1783delC	c.(1783-1785)caafs	p.Q595fs	C6_ENST00000475349.1_5'Flank|C6_ENST00000337836.5_Frame_Shift_Del_p.Q595fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	595	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.Q595K(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CCTCCTCGTTGGGGGGCAGGA	0.498																																						uc003jmk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(2)	7						c.(1783-1785)CAAfs		complement component 6 precursor							113.0	120.0	118.0					5																	41159257		2203	4300	6503	SO:0001589	frameshift_variant	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41159257delG	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1783delC	5.37:g.41159257delG	ENSP00000263413:p.Gln595fs					C6_uc003jml.1_Frame_Shift_Del_p.Q595fs	p.Q595fs	NM_000065	NP_000056	P13671	CO6_HUMAN			12	1993	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	595			TSP type-1 3.			Frame_Shift_Del	DEL	ENST00000263413.3	37	c.1783delC	CCDS3936.1																																																																																				0.498	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			22	114	NA	NA	NA	NA	22	114	---	---	---	---
KDM3B	51780	broad.mit.edu	37	5	137727094	137727097	+	Frame_Shift_Del	DEL	GAAA	GAAA	-	rs201659917		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr5:137727094_137727097delGAAA	ENST00000314358.5	+	8	1973_1976	c.1773_1776delGAAA	c.(1771-1776)cggaaafs	p.RK591fs	KDM3B_ENST00000394866.1_Frame_Shift_Del_p.RK247fs|KDM3B_ENST00000542866.1_Intron	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	591					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CTGTGGACCGGAAAGTGCCTGCAG	0.544																																						uc003lcy.1		NA																	0				ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						c.(1771-1776)CGGAAAfs		jumonji domain containing 1B																																				SO:0001589	frameshift_variant	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137727094_137727097delGAAA	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.1773_1776delGAAA	5.37:g.137727094_137727097delGAAA	ENSP00000326563:p.Arg591fs					KDM3B_uc010jew.1_Frame_Shift_Del_p.R247fs|KDM3B_uc011cys.1_Intron	p.R591fs	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN			8	1973_1976	+			591_592					A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Frame_Shift_Del	DEL	ENST00000314358.5	37	c.1773_1776delGAAA	CCDS34242.1																																																																																				0.544	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		18	85	NA	NA	NA	NA	18	85	---	---	---	---
GTF2IRD2	84163	broad.mit.edu	37	7	74211326	74211327	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr7:74211326_74211327insT	ENST00000405086.2	-	16	2713_2714	c.2524_2525insA	c.(2524-2526)ctcfs	p.L842fs	GTF2IRD2_ENST00000451013.2_Frame_Shift_Ins_p.L389fs	NM_173537.2	NP_775808	Q86UP8	GTD2A_HUMAN	GTF2I repeat domain containing 2	842					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						gctttcgtagagtttgaaatca	0.49																																					NSCLC(40;560 1096 7501 40315 49546)	uc003ubd.1		NA																	0				ovary(1)	1						c.(2524-2526)CTCfs		GTF2I repeat domain containing 2																																				SO:0001589	frameshift_variant	84163				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:74211326_74211327insT	BC047706	CCDS5576.1, CCDS64682.1	7q11.23	2014-05-06			ENSG00000196275	ENSG00000196275			30775	protein-coding gene	gene with protein product	"""transcription factor GTF2IRD2"""	608899				15243160	Standard	NM_173537		Approved	FLJ37938, GTF2IRD2A	uc003ubd.1	Q86UP8	OTTHUMG00000181527	ENST00000405086.2:c.2524_2525insA	7.37:g.74211326_74211327insT	ENSP00000385491:p.Leu842fs					GTF2IRD2_uc010lbt.1_Frame_Shift_Ins_p.L389fs	p.L842fs	NM_173537	NP_775808	Q86UP8	GTD2A_HUMAN			16	2708_2709	-			842					A8K5W6|B3KUZ2|Q69G40|Q6EKI8|Q6EKI9|Q6NVW2|Q6P7N8|Q86WX4|Q8ND85|Q8NDE5	Frame_Shift_Ins	INS	ENST00000405086.2	37	c.2524_2525insA	CCDS5576.1																																																																																				0.490	GTF2IRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252712.3	NM_173537		12	65	NA	NA	NA	NA	12	65	---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100871564	100871572	+	In_Frame_Del	DEL	AGCCCTGCA	AGCCCTGCA	-	rs61754107	byFrequency	TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr8:100871564_100871572delAGCCCTGCA	ENST00000358544.2	+	57	11086_11094	c.10975_10983delAGCCCTGCA	c.(10975-10983)agccctgcadel	p.SPA3659del	VPS13B_ENST00000357162.2_In_Frame_Del_p.SPA3634del|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3659					protein transport (GO:0015031)			p.P3635R(1)|p.P3660R(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TATTCTTGGCAGCCCTGCAAGCCTGGTGA	0.56																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(10975-10983)AGCCCTGCAdel		vacuolar protein sorting 13B isoform 5																																				SO:0001651	inframe_deletion	157680				protein transport			g.chr8:100871564_100871572delAGCCCTGCA	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.10975_10983delAGCCCTGCA	8.37:g.100871564_100871572delAGCCCTGCA	ENSP00000351346:p.Ser3659_Ala3661del					VPS13B_uc003yiw.2_In_Frame_Del_p.SPA3634del	p.SPA3659del	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		57	11086_11094	+	Breast(36;3.73e-07)		3659_3661					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	In_Frame_Del	DEL	ENST00000358544.2	37	c.10975_10983delAGCCCTGCA	CCDS6280.1																																																																																				0.560	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		10	127	NA	NA	NA	NA	10	127	---	---	---	---
CDKN2A	1029	broad.mit.edu	37	9	21968234	21968234	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr9:21968234delG	ENST00000304494.5	-	3	735	c.465delC	c.(463-465)cccfs	p.P155fs	CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.P104fs|CDKN2A_ENST00000579755.1_3'UTR|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_3'UTR|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.P104fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.R131fs|CDKN2A_ENST00000361570.3_3'UTR|CDKN2A_ENST00000498124.1_3'UTR|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.P104fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	155					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(4)|p.0(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCTTTCAATCGGGGATGTCTG	0.557		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1320	Whole gene deletion(1316)|Unknown(4)	p.0?(1112)|p.?(4)	haematopoietic_and_lymphoid_tissue(277)|skin(165)|central_nervous_system(163)|lung(140)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(51)|oesophagus(48)|upper_aerodigestive_tract(45)|ovary(33)|breast(30)|kidney(29)|pancreas(29)|thyroid(13)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678						c.(463-465)CCCfs		cyclin-dependent kinase inhibitor 2A isoform 1							94.0	94.0	94.0					9																	21968234		2203	4300	6503	SO:0001589	frameshift_variant	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21968234delG	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.465delC	9.37:g.21968234delG	ENSP00000307101:p.Pro155fs	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_3'UTR	p.P155fs	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	3	677	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	155					A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Frame_Shift_Del	DEL	ENST00000304494.5	37	c.465delC	CCDS6510.1																																																																																				0.557	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		28	21	NA	NA	NA	NA	28	21	---	---	---	---
