#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
VPS13D	55187	broad.mit.edu	37	1	12331121	12331121	+	Silent	SNP	G	G	A			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr1:12331121G>A	ENST00000358136.3	+	17	2173	c.2043G>A	c.(2041-2043)aaG>aaA	p.K681K	VPS13D_ENST00000356315.4_Silent_p.K681K	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ACAAGCTGAAGATGCAGACCA	0.458																																						uc001atv.2		NA																	0				ovary(4)|pancreas(1)	5						c.(2041-2043)AAG>AAA		vacuolar protein sorting 13D isoform 1							107.0	100.0	102.0					1																	12331121		2203	4300	6503	SO:0001819	synonymous_variant	55187				protein localization			g.chr1:12331121G>A	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.2043G>A	1.37:g.12331121G>A						VPS13D_uc001atw.2_Silent_p.K681K	p.K681K	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	17	2184	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	681						Silent	SNP	ENST00000358136.3	37	c.2043G>A	CCDS30588.1																																																																																				0.458	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		4	52	0	0	0	0	4	52				
NFYC	4802	broad.mit.edu	37	1	41228713	41228713	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr1:41228713A>T	ENST00000308733.5	+	6	721	c.715A>T	c.(715-717)Atc>Ttc	p.I239F	NFYC_ENST00000440226.3_Missense_Mutation_p.I239F|NFYC_ENST00000372653.1_Missense_Mutation_p.I205F|NFYC_ENST00000456393.2_Missense_Mutation_p.I239F|NFYC_ENST00000427410.2_Missense_Mutation_p.I201F|NFYC_ENST00000372652.1_Missense_Mutation_p.I239F|NFYC_ENST00000372651.1_Missense_Mutation_p.I239F|NFYC_ENST00000425457.2_Missense_Mutation_p.I239F|NFYC_ENST00000447388.3_Missense_Mutation_p.I239F|NFYC_ENST00000372654.1_Missense_Mutation_p.I239F			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	239					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			GATCCAGCAGATCCCGGTGAG	0.448																																						uc001cge.2		NA																	0				breast(2)|kidney(1)	3						c.(715-717)ATC>TTC		nuclear transcription factor Y, gamma isoform 1							57.0	54.0	55.0					1																	41228713		2203	4300	6503	SO:0001583	missense	4802				protein folding|regulation of transcription from RNA polymerase II promoter	CCAAT-binding factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:41228713A>T	U78774	CCDS455.1, CCDS44120.1, CCDS44121.1, CCDS44122.1, CCDS44123.1	1p32	2008-11-11			ENSG00000066136	ENSG00000066136			7806	protein-coding gene	gene with protein product		605344				8921405, 9249075	Standard	NM_014223		Approved	CBF-C, NF-YC	uc009vwd.3	Q13952	OTTHUMG00000007729	ENST00000308733.5:c.715A>T	1.37:g.41228713A>T	ENSP00000312617:p.Ile239Phe					NFYC_uc010ojm.1_Missense_Mutation_p.I145F|NFYC_uc001cfx.3_Missense_Mutation_p.I239F|NFYC_uc009vwd.2_Missense_Mutation_p.I239F|NFYC_uc001cfz.2_Missense_Mutation_p.I239F|NFYC_uc010ojn.1_Missense_Mutation_p.I201F|NFYC_uc001cfy.3_Missense_Mutation_p.I239F|NFYC_uc001cgc.2_Missense_Mutation_p.I205F|NFYC_uc001cgb.2_Missense_Mutation_p.I239F|NFYC_uc001cgd.3_Missense_Mutation_p.I239F	p.I239F	NM_001142588	NP_001136060	Q13952	NFYC_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)		6	723	+	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	239					B4DUS6|B4DW63|D3DPV9|F8VWM3|Q59GY4|Q5T6K8|Q5T6K9|Q5T6L1|Q5TZR6|Q92869|Q9HBX1|Q9NXB5|Q9UM67|Q9UML0|Q9UMT7	Missense_Mutation	SNP	ENST00000308733.5	37	c.715A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.7|26.7	4.762278|4.762278	0.89932|0.89932	.|.	.|.	ENSG00000066136|ENSG00000066136	ENST00000414185|ENST00000427410;ENST00000447388;ENST00000425457;ENST00000456393;ENST00000372658;ENST00000372655;ENST00000372654;ENST00000372653;ENST00000372669;ENST00000372652;ENST00000372651;ENST00000440226;ENST00000308733	.|T;T;T;T;T;T;T;T;T;T;T	.|0.50277	.|0.75;0.75;0.75;0.75;0.75;1.3;0.75;0.75;0.75;0.75;0.75	5.69|5.69	4.56|4.56	0.56223|0.56223	.|.	.|0.047285	.|0.85682	.|D	.|0.000000	T|T	0.63815|0.63815	0.2543|0.2543	M|M	0.68593|0.68593	2.085|2.085	0.58432|0.58432	D|D	0.999999|0.999999	.|P;D;D;P;D;D;D;D	.|0.71674	.|0.936;0.967;0.995;0.932;0.997;0.991;0.991;0.998	.|P;P;D;P;D;P;P;D	.|0.78314	.|0.534;0.664;0.979;0.84;0.991;0.853;0.853;0.93	T|T	0.64466|0.64466	-0.6401|-0.6401	5|10	.|0.59425	.|D	.|0.04	.|.	10.1054|10.1054	0.42530|0.42530	0.9199:0.0:0.0801:0.0|0.9199:0.0:0.0801:0.0	.|.	.|201;145;239;205;239;239;239;239	.|B4DW63;B4DVS8;Q13952;Q5T6K9;Q13952-3;F8VWM3;Q13952-2;B4DUS6	.|.;.;NFYC_HUMAN;.;.;.;.;.	V|F	121|201;239;239;239;137;137;239;205;239;239;239;239;239	.|ENSP00000408315:I201F;ENSP00000404427:I239F;ENSP00000396620:I239F;ENSP00000408867:I239F;ENSP00000361738:I239F;ENSP00000361737:I205F;ENSP00000361754:I239F;ENSP00000361736:I239F;ENSP00000361734:I239F;ENSP00000414299:I239F;ENSP00000312617:I239F	.|ENSP00000312617:I239F	D|I	+|+	2|1	0|0	NFYC|NFYC	41001300|41001300	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	6.909000|6.909000	0.75735|0.75735	0.973000|0.973000	0.38340|0.38340	0.491000|0.491000	0.48974|0.48974	GAT|ATC		0.448	NFYC-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000020802.1	NM_014223		8	11	0	0	0	0	8	11				
SZT2	23334	broad.mit.edu	37	1	43912750	43912750	+	Missense_Mutation	SNP	G	G	A	rs547140528		TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr1:43912750G>A	ENST00000562955.1	+	65	9026	c.9026G>A	c.(9025-9027)cGg>cAg	p.R3009Q	SZT2_ENST00000372442.1_Missense_Mutation_p.R2167Q|SZT2-AS1_ENST00000396885.2_RNA	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	3066					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CTGGTGCTGCGGCACGGCTAC	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		21741	0.0		0.0	False		,,,				2504	0.001					uc001cjk.1		NA																	0					0						c.(6499-6501)CGG>CAG		hypothetical protein LOC23334							128.0	89.0	102.0					1																	43912750		2203	4300	6503	SO:0001583	missense	23334					peroxisome		g.chr1:43912750G>A	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.9026G>A	1.37:g.43912750G>A	ENSP00000457168:p.Arg3009Gln					KIAA0467_uc001cjl.1_Missense_Mutation_p.R155Q	p.R2167Q	NM_015284	NP_056099	Q5T011	SZT2_HUMAN			51	6962	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	3066					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.6500G>A	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	G	15.63	2.889983	0.52014	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.43	5.43	0.79202	.	0.101860	0.64402	D	0.000001	T	0.66066	0.2752	L	0.27053	0.805	0.34846	D	0.741138	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.67945	-0.5539	9	0.28530	T	0.3	.	19.6025	0.95569	0.0:0.0:1.0:0.0	.	3066;3009	Q5T011;Q5T011-5	SZT2_HUMAN;.	Q	2167	.	ENSP00000361519:R2167Q	R	+	2	0	SZT2	43685337	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	6.399000	0.73248	2.708000	0.92522	0.655000	0.94253	CGG		0.597	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		3	31	0	0	0	0	3	31				
ACOT11	26027	broad.mit.edu	37	1	55058224	55058224	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr1:55058224G>T	ENST00000371316.3	+	4	399	c.317G>T	c.(316-318)gGa>gTa	p.G106V	ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Missense_Mutation_p.G106V	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	106	Acyl coenzyme A hydrolase 1.				fatty acid metabolic process (GO:0006631)|intracellular signal transduction (GO:0035556)|response to cold (GO:0009409)|response to temperature stimulus (GO:0009266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						CCCAGTGTTGGACAAGTGGTG	0.607																																					Ovarian(148;1440 1861 22015 32453 51933)	uc001cxm.1		NA																	0				central_nervous_system(1)	1						c.(316-318)GGA>GTA		thioesterase, adipose associated isoform BFIT1							114.0	100.0	104.0					1																	55058224		2203	4300	6503	SO:0001583	missense	26027				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity	g.chr1:55058224G>T	AB014607	CCDS592.1, CCDS593.1	1p32.3	2011-09-13	2005-09-08	2005-09-08	ENSG00000162390	ENSG00000162390	3.1.2.-	"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	18156	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 14"""	606803	"""thioesterase, adipose associated"""	THEA		11696000, 16103133, 16940157	Standard	NM_015547		Approved	STARD14, BFIT, KIAA0707, BFIT1, THEM1	uc001cxl.2	Q8WXI4	OTTHUMG00000009891	ENST00000371316.3:c.317G>T	1.37:g.55058224G>T	ENSP00000360366:p.Gly106Val					ACOT11_uc001cxj.1_5'UTR|ACOT11_uc001cxk.2_Missense_Mutation_p.G72V|ACOT11_uc001cxl.1_Missense_Mutation_p.G106V	p.G106V	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN			4	399	+			106			Acyl coenzyme A hydrolase 1.		B1AQ22|D3DQ50|O75187|Q52LP1|Q53ER9|Q96DI1|Q9H883	Missense_Mutation	SNP	ENST00000371316.3	37	c.317G>T	CCDS592.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506316	0.85282	.	.	ENSG00000162390	ENST00000343744;ENST00000371316	T;T	0.65732	-0.17;-0.17	4.3	4.3	0.51218	Thioesterase superfamily (1);	0.000000	0.85682	D	0.000000	D	0.85656	0.5747	H	0.96460	3.825	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91042	0.4872	10	0.87932	D	0	-16.724	17.1448	0.86763	0.0:0.0:1.0:0.0	.	106;106	Q8WXI4;Q8WXI4-2	ACO11_HUMAN;.	V	106	ENSP00000340260:G106V;ENSP00000360366:G106V	ENSP00000340260:G106V	G	+	2	0	ACOT11	54830812	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.473000	0.97714	2.121000	0.65114	0.561000	0.74099	GGA		0.607	ACOT11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027356.1	NM_015547		13	53	1	0	4.37e-10	5.4e-10	13	53				
CCDC18	343099	broad.mit.edu	37	1	93680428	93680428	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr1:93680428T>A	ENST00000343253.7	+	12	2123	c.1621T>A	c.(1621-1623)Ttg>Atg	p.L541M	CCDC18_ENST00000401026.3_Missense_Mutation_p.L542M|CCDC18_ENST00000557479.1_Missense_Mutation_p.L660M|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000338949.4_Missense_Mutation_p.L341M			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	541										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		AAATTCTGATTTGAAGGTTAA	0.378																																						uc001dpq.2		NA																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(1978-1980)TTG>ATG		sarcoma antigen NY-SAR-41							58.0	56.0	57.0					1																	93680428		1836	4097	5933	SO:0001583	missense	343099							g.chr1:93680428T>A			1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.1621T>A	1.37:g.93680428T>A	ENSP00000343377:p.Leu541Met					CCDC18_uc009wdl.1_Missense_Mutation_p.L221M	p.L660M	NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	12	2146	+		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)	541			Potential.		Q6ZU17	Missense_Mutation	SNP	ENST00000343253.7	37	c.1978T>A		.	.	.	.	.	.	.	.	.	.	T	17.92	3.505745	0.64410	.	.	ENSG00000122483	ENST00000343253;ENST00000401026;ENST00000557479;ENST00000338949;ENST00000455267	T;T;T;T;T	0.16457	2.34;2.34;2.34;2.34;2.34	5.16	1.61	0.23674	.	0.173353	0.39475	N	0.001359	T	0.18800	0.0451	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.976;0.994	T	0.03493	-1.1031	10	0.62326	D	0.03	.	4.2238	0.10570	0.1375:0.2255:0.0:0.637	.	541;660	Q5T9S5;G3V388	CCD18_HUMAN;.	M	541;542;660;341;261	ENSP00000343377:L541M;ENSP00000383808:L542M;ENSP00000451099:L660M;ENSP00000344380:L341M;ENSP00000391151:L261M	ENSP00000344380:L341M	L	+	1	2	CCDC18	93453016	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	1.512000	0.35812	0.019000	0.15079	0.533000	0.62120	TTG		0.378	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886		3	27	0	0	0	0	3	27				
VPS72	6944	broad.mit.edu	37	1	151149264	151149264	+	Silent	SNP	C	C	T			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr1:151149264C>T	ENST00000354473.4	-	6	1020	c.984G>A	c.(982-984)aaG>aaA	p.K328K	TMOD4_ENST00000601585.1_5'Flank|TMOD4_ENST00000416280.2_5'Flank|VPS72_ENST00000496809.1_5'UTR			Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)	317					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CACGAATGATCTTGAAGGCTC	0.597																																					Pancreas(109;1131 2287 3209 24201)	uc001exe.1		NA																	0				breast(1)|pancreas(1)	2						c.(949-951)AAG>AAA		transcription factor-like 1							91.0	89.0	90.0					1																	151149264		2203	4300	6503	SO:0001819	synonymous_variant	6944				chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:151149264C>T	D43642	CCDS989.1, CCDS59201.1	1q21	2008-02-05	2006-12-19	2005-09-08	ENSG00000163159	ENSG00000163159			11644	protein-coding gene	gene with protein product		600607	"""transcription factor-like 1"", ""vacuolar protein sorting 72 (yeast)"""	TCFL1		7702631	Standard	NM_001271087		Approved	YL-1, YL1, Swc2	uc001exe.2	Q15906	OTTHUMG00000012345	ENST00000354473.4:c.984G>A	1.37:g.151149264C>T						TMOD4_uc001exd.2_5'Flank|TMOD4_uc001exc.3_5'Flank|TMOD4_uc010pct.1_5'Flank	p.K317K	NM_005997	NP_005988	Q15906	VPS72_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		6	994	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		317					A6NLK9|A6PW55|Q53GJ2|Q5U0R4	Silent	SNP	ENST00000354473.4	37	c.951G>A	CCDS59201.1																																																																																				0.597	VPS72-002	NOVEL	mRNA_start_NF|basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000034394.3	NM_005997		8	88	0	0	0	0	8	88				
LINGO4	339398	broad.mit.edu	37	1	151774040	151774040	+	Missense_Mutation	SNP	A	A	G	rs370592055		TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr1:151774040A>G	ENST00000368820.3	-	2	2078	c.1141T>C	c.(1141-1143)Tcc>Ccc	p.S381P	RP11-98D18.17_ENST00000601909.1_lincRNA	NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	381	LRRCT.					integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCAGGGGGGGACATGCCAAAG	0.622																																						uc001ezf.1		NA																	0				large_intestine(1)	1						c.(1141-1143)TCC>CCC		leucine rich repeat and Ig domain containing 4							34.0	37.0	36.0					1																	151774040		2203	4300	6503	SO:0001583	missense	339398					integral to membrane		g.chr1:151774040A>G		CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"""Immunoglobulin superfamily / I-set domain containing"""	31814	protein-coding gene	gene with protein product		609794	"""leucine rich repeat neuronal 6D"""	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.1141T>C	1.37:g.151774040A>G	ENSP00000357810:p.Ser381Pro						p.S381P	NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	1331	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		381			Extracellular (Potential).|LRRCT.			Missense_Mutation	SNP	ENST00000368820.3	37	c.1141T>C	CCDS30855.1	.	.	.	.	.	.	.	.	.	.	A	6.991	0.552881	0.13374	.	.	ENSG00000213171	ENST00000368820	T	0.60672	0.17	5.54	1.84	0.25277	Cysteine-rich flanking region, C-terminal (1);	0.287852	0.25294	N	0.031707	T	0.16428	0.0395	N	0.21097	0.63	0.09310	N	1	B	0.31435	0.323	B	0.27262	0.078	T	0.13522	-1.0506	10	0.30078	T	0.28	.	6.0328	0.19688	0.4355:0.1451:0.0:0.4194	.	381	Q6UY18	LIGO4_HUMAN	P	381	ENSP00000357810:S381P	ENSP00000357810:S381P	S	-	1	0	LINGO4	150040664	0.631000	0.27164	0.012000	0.15200	0.629000	0.37895	1.938000	0.40203	0.138000	0.18790	0.533000	0.62120	TCC		0.622	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036639.1	XM_291387		10	55	0	0	0	0	10	55				
PAPPA2	60676	broad.mit.edu	37	1	176661264	176661264	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr1:176661264G>A	ENST00000367662.3	+	6	3598	c.2434G>A	c.(2434-2436)Gat>Aat	p.D812N		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	812					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTCCACAGATGATAACTGCAC	0.458											OREG0014001	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001gkz.2		NA																	0				ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(2434-2436)GAT>AAT		pappalysin 2 isoform 1							115.0	112.0	113.0					1																	176661264		1993	4173	6166	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176661264G>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.2434G>A	1.37:g.176661264G>A	ENSP00000356634:p.Asp812Asn		OREG0014001	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1932	PAPPA2_uc009www.2_RNA	p.D812N	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			6	3598	+			812					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.2434G>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	34	5.378014	0.95945	.	.	ENSG00000116183	ENST00000367662	T	0.79940	-1.32	5.81	5.81	0.92471	Peptidase M43, pregnancy-associated plasma-A (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.91848	0.7420	M	0.89785	3.06	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.92238	0.5798	10	0.56958	D	0.05	-20.597	19.6776	0.95943	0.0:0.0:1.0:0.0	.	812	Q9BXP8	PAPP2_HUMAN	N	812	ENSP00000356634:D812N	ENSP00000356634:D812N	D	+	1	0	PAPPA2	174927887	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	9.686000	0.98664	2.746000	0.94184	0.655000	0.94253	GAT		0.458	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			11	76	0	0	0	0	11	76				
CFHR2	3080	broad.mit.edu	37	1	196918742	196918742	+	Silent	SNP	C	C	T	rs549841110		TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr1:196918742C>T	ENST00000367415.5	+	2	316	c.216C>T	c.(214-216)tgC>tgT	p.C72C	CFHR2_ENST00000496448.1_Intron|CFHR2_ENST00000476712.2_Silent_p.C72C|CFHR2_ENST00000367421.3_Silent_p.C72C	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	72	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						GCATAACGTGCGCAGAAGAAG	0.408													c|||	1	0.000199681	0.0008	0.0	5008	,	,		18598	0.0		0.0	False		,,,				2504	0.0					uc001gtq.1		NA																	0				skin(2)|ovary(1)	3						c.(214-216)TGC>TGT		H factor (complement)-like 3 precursor							101.0	88.0	93.0					1																	196918742		2203	4300	6503	SO:0001819	synonymous_variant	3080					extracellular region		g.chr1:196918742C>T	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367415.5:c.216C>T	1.37:g.196918742C>T						CFHR2_uc001gtr.1_Intron	p.C72C	NM_005666	NP_005657	P36980	FHR2_HUMAN			2	293	+			72			Sushi 1.		Q14310|Q5T9T1	Silent	SNP	ENST00000367415.5	37	c.216C>T	CCDS30959.1																																																																																				0.408	CFHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088815.2	NM_005666		9	21	0	0	0	0	9	21				
NFASC	23114	broad.mit.edu	37	1	204978741	204978741	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr1:204978741T>G	ENST00000401399.1	+	27	3545	c.3346T>G	c.(3346-3348)Tgc>Ggc	p.C1116G	NFASC_ENST00000367171.4_Missense_Mutation_p.C1208G|NFASC_ENST00000360049.4_Missense_Mutation_p.C1045G|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000367172.4_Missense_Mutation_p.C1223G|NFASC_ENST00000404907.1_Missense_Mutation_p.C1050G|NFASC_ENST00000404076.1_Missense_Mutation_p.C1033G|NFASC_ENST00000339876.6_Missense_Mutation_p.C1116G|NFASC_ENST00000367170.4_Missense_Mutation_p.C1144G|NFASC_ENST00000539706.1_Missense_Mutation_p.C1050G|NFASC_ENST00000513543.1_Missense_Mutation_p.C1045G|NFASC_ENST00000338586.6_Missense_Mutation_p.C1100G|NFASC_ENST00000338515.6_Missense_Mutation_p.C1133G|NFASC_ENST00000367169.4_Missense_Mutation_p.C947G			O94856	NFASC_HUMAN	neurofascin	1223	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TGGGCTTATGTGCGCCATCGC	0.592																																						uc001hbj.2		NA																	0				ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(3346-3348)TGC>GGC		neurofascin isoform 1 precursor							105.0	81.0	89.0					1																	204978741		2203	4300	6503	SO:0001583	missense	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204978741T>G	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.3346T>G	1.37:g.204978741T>G	ENSP00000385637:p.Cys1116Gly					NFASC_uc010pra.1_Missense_Mutation_p.C1050G|NFASC_uc001hbi.2_Missense_Mutation_p.C1045G|NFASC_uc010prb.1_Missense_Mutation_p.C1065G|NFASC_uc010prc.1_Missense_Mutation_p.C616G|NFASC_uc001hbl.1_Missense_Mutation_p.C192G|NFASC_uc001hbm.1_Missense_Mutation_p.C139G|NFASC_uc009xbh.1_5'UTR	p.C1116G	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		28	3674	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		1223			Helical; (Potential).		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	ENST00000401399.1	37	c.3346T>G	CCDS53460.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	25.8|25.8|25.8	4.673725|4.673725|4.673725	0.88445|0.88445|0.88445	.|.|.	.|.|.	ENSG00000163531|ENSG00000163531|ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393;ENST00000447819|ENST00000367173;ENST00000425360|ENST00000413225	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.|.	0.78364|.|.	-0.32;-0.37;-0.24;-0.28;-0.34;-0.29;-0.14;-0.09;-0.22;-0.24;-0.34;-0.14;-0.09;-0.14;-1.17|.|.	5.27|5.27|5.27	5.27|5.27|5.27	0.74061|0.74061|0.74061	.|.|.	0.000000|0.000000|.	0.56097|0.56097|.	D|D|.	0.000035|0.000035|.	T|T|T	0.75436|0.75436|0.75436	0.3849|0.3849|0.3849	M|M|M	0.79258|0.79258|0.79258	2.445|2.445|2.445	0.39553|0.39553|0.39553	D|D|D	0.969003|0.969003|0.969003	D;D;P;D;D;D;P|.|.	0.89917|.|.	0.999;0.999;0.94;1.0;0.984;0.999;0.916|.|.	D;D;P;D;P;D;P|.|.	0.97110|.|.	0.998;1.0;0.708;1.0;0.723;0.994;0.822|.|.	T|T|T	0.78437|0.78437|0.78437	-0.2204|-0.2204|-0.2204	10|6|5	0.59425|.|.	D|.|.	0.04|.|.	.|.|.	14.856|14.856|14.856	0.70338|0.70338|0.70338	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.|.	1223;1065;1050;1100;942;1116;1045|.|.	O94856;O94856-11;O94856-8;F8W8X7;O94856-4;O94856-9;O94856-3|.|.	NFASC_HUMAN;.;.;.;.;.;.|.|.	G|W|G	1223;1208;1144;1133;1116;1100;1065;1050;1045;947;1033;1116;1050;1045;1041;94|916;173|162	ENSP00000356140:C1223G;ENSP00000356139:C1208G;ENSP00000356138:C1144G;ENSP00000342128:C1133G;ENSP00000344786:C1116G;ENSP00000343509:C1100G;ENSP00000438614:C1050G;ENSP00000353154:C1045G;ENSP00000356137:C947G;ENSP00000385676:C1033G;ENSP00000385637:C1116G;ENSP00000384061:C1050G;ENSP00000425908:C1045G;ENSP00000415031:C1041G;ENSP00000416891:C94G|.|.	ENSP00000295776:C1065G|.|.	C|C|V	+|+|+	1|3|2	0|2|0	NFASC|NFASC|NFASC	203245364|203245364|203245364	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.999000|0.999000|0.999000	0.59377|0.59377|0.59377	0.992000|0.992000|0.992000	0.81027|0.81027|0.81027	7.988000|7.988000|7.988000	0.88194|0.88194|0.88194	1.966000|1.966000|1.966000	0.57179|0.57179|0.57179	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	TGC|TGT|GTG		0.592	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		7	49	0	0	0	0	7	49				
VASH2	79805	broad.mit.edu	37	1	213147325	213147325	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr1:213147325C>T	ENST00000517399.1	+	6	908	c.908C>T	c.(907-909)cCg>cTg	p.P303L	VASH2_ENST00000366968.4_Missense_Mutation_p.P238L|VASH2_ENST00000271776.4_3'UTR|VASH2_ENST00000366966.2_Missense_Mutation_p.P238L|VASH2_ENST00000366967.2_Missense_Mutation_p.P199L|VASH2_ENST00000366965.2_Missense_Mutation_p.P259L			Q86V25	VASH2_HUMAN	vasohibin 2	303					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)	cytoplasm (GO:0005737)				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)		GCCCACTCTCCGACCCAAGTG	0.567																																						uc001hjy.2		NA																	0					0						c.(907-909)CCG>CTG		vasohibin 2 isoform 3							52.0	59.0	57.0					1																	213147325		2203	4300	6503	SO:0001583	missense	79805				positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	cytoplasm		g.chr1:213147325C>T	AK022567	CCDS1511.1, CCDS44315.1, CCDS44316.1, CCDS73026.1	1q23	2008-02-05			ENSG00000143494	ENSG00000143494			25723	protein-coding gene	gene with protein product		610471				16528006	Standard	XR_247041		Approved	FLJ12505	uc001hjw.3	Q86V25	OTTHUMG00000036925	ENST00000517399.1:c.908C>T	1.37:g.213147325C>T	ENSP00000428324:p.Pro303Leu					VASH2_uc001hjv.2_RNA|VASH2_uc001hjx.2_Missense_Mutation_p.P238L|VASH2_uc010ptn.1_Missense_Mutation_p.P199L|VASH2_uc001hjw.2_Missense_Mutation_p.P259L	p.P303L	NM_001136475	NP_001129947	Q86V25	VASH2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)	6	1112	+			303					B4DYZ5|Q2VT46|Q5VTE7|Q5VTE9|Q7Z6E3|Q8IZ24|Q9H9W5	Missense_Mutation	SNP	ENST00000517399.1	37	c.908C>T	CCDS1511.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.334973	0.81801	.	.	ENSG00000143494	ENST00000366966;ENST00000366968;ENST00000366965;ENST00000366967;ENST00000517399	.	.	.	5.68	4.77	0.60923	.	0.111963	0.64402	D	0.000007	T	0.66819	0.2828	L	0.58810	1.83	0.80722	D	1	D;P	0.76494	0.999;0.918	P;B	0.57548	0.823;0.252	T	0.69304	-0.5180	9	0.54805	T	0.06	-17.7897	13.093	0.59176	0.0:0.9257:0.0:0.0743	.	303;259	Q86V25;Q86V25-5	VASH2_HUMAN;.	L	238;238;259;199;303	.	ENSP00000355932:P259L	P	+	2	0	VASH2	211213948	0.999000	0.42202	0.976000	0.42696	0.991000	0.79684	4.578000	0.60929	1.550000	0.49438	0.650000	0.86243	CCG		0.567	VASH2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381686.1	NM_024749		4	58	0	0	0	0	4	58				
DISP1	84976	broad.mit.edu	37	1	223178539	223178539	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr1:223178539T>C	ENST00000284476.6	+	8	3964	c.3800T>C	c.(3799-3801)cTg>cCg	p.L1267P		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1267					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TTCTTCTCTCTGAATCAGAGA	0.517																																						uc001hnu.1		NA																	0					0						c.(3799-3801)CTG>CCG		dispatched A							143.0	134.0	137.0					1																	223178539		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223178539T>C	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.3800T>C	1.37:g.223178539T>C	ENSP00000284476:p.Leu1267Pro						p.L1267P	NM_032890	NP_116279	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	3947	+			1267					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.3800T>C	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	T	18.03	3.532861	0.64972	.	.	ENSG00000154309	ENST00000284476	D	0.93019	-3.15	5.82	5.82	0.92795	.	0.285984	0.28641	N	0.014638	D	0.90106	0.6909	L	0.32530	0.975	0.58432	D	0.999996	P	0.50710	0.938	P	0.47470	0.548	D	0.88626	0.3166	10	0.36615	T	0.2	-21.0543	9.6021	0.39609	0.1955:0.0:0.0:0.8045	.	1267	Q96F81	DISP1_HUMAN	P	1267	ENSP00000284476:L1267P	ENSP00000284476:L1267P	L	+	2	0	DISP1	221245162	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.160000	0.50739	2.225000	0.72522	0.459000	0.35465	CTG		0.517	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		3	149	0	0	0	0	3	149				
OBSCN	84033	broad.mit.edu	37	1	228467143	228467143	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr1:228467143C>T	ENST00000422127.1	+	27	7438	c.7394C>T	c.(7393-7395)tCa>tTa	p.S2465L	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000570156.2_Missense_Mutation_p.S2894L|OBSCN_ENST00000284548.11_Missense_Mutation_p.S2465L|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.S1312L	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2465					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGGTGGTCTCAGGTGAGCAC	0.682																																						uc009xez.1		NA																	0				stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(7393-7395)TCA>TTA		obscurin, cytoskeletal calmodulin and							20.0	23.0	22.0					1																	228467143		2059	4178	6237	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228467143C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.7394C>T	1.37:g.228467143C>T	ENSP00000409493:p.Ser2465Leu					OBSCN_uc001hsn.2_Missense_Mutation_p.S2465L|OBSCN_uc001hsp.1_Missense_Mutation_p.S164L|OBSCN_uc001hsq.1_5'Flank	p.S2465L	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			27	7438	+		Prostate(94;0.0405)	2465					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.7394C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.220598	0.39201	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599;ENST00000366706	T;T;T	0.37411	1.2;1.2;1.2	4.38	4.38	0.52667	.	0.308002	0.25180	N	0.032533	T	0.32704	0.0838	L	0.29908	0.895	0.80722	D	1	D;P;D	0.62365	0.983;0.571;0.991	P;B;P	0.52514	0.701;0.28;0.652	T	0.02491	-1.1151	10	0.27082	T	0.32	.	7.7617	0.28957	0.2783:0.5598:0.1619:0.0	.	2465;2465;2465	Q5VST9;Q5VST9-2;Q5VST9-3	OBSCN_HUMAN;.;.	L	2465;2465;1312;164	ENSP00000284548:S2465L;ENSP00000409493:S2465L;ENSP00000352613:S1312L	ENSP00000284548:S2465L	S	+	2	0	OBSCN	226533766	1.000000	0.71417	1.000000	0.80357	0.337000	0.28794	3.355000	0.52262	2.149000	0.67028	0.555000	0.69702	TCA		0.682	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		4	38	0	0	0	0	4	38				
ZNF22	7570	broad.mit.edu	37	10	45498926	45498926	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr10:45498926T>C	ENST00000298299.3	+	2	703	c.110T>C	c.(109-111)aTt>aCt	p.I37T	C10orf25_ENST00000298298.1_5'Flank|CEP164P1_ENST00000456938.2_RNA	NM_006963.4	NP_008894.2	P17026	ZNF22_HUMAN	zinc finger protein 22	37					odontogenesis (GO:0042476)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(2)|lung(2)	8		Prostate(175;0.0352)|all_neural(218;0.202)				GGCATGACTATTCGATTTGAC	0.463																																						uc001jbw.2		NA																	0				breast(1)|kidney(1)	2						c.(109-111)ATT>ACT		zinc finger protein 22 (KOX 15)							67.0	68.0	68.0					10																	45498926		2203	4300	6503	SO:0001583	missense	7570				odontogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|plasma membrane	DNA binding|zinc ion binding	g.chr10:45498926T>C	BC041139	CCDS7211.1	10q11	2013-01-08	2012-07-12		ENSG00000165512	ENSG00000165512		"""Zinc fingers, C2H2-type"""	13012	protein-coding gene	gene with protein product		194529					Standard	NM_006963		Approved	KOX15, HKR-T1, ZNF422, Zfp422	uc001jbw.3	P17026	OTTHUMG00000018064	ENST00000298299.3:c.110T>C	10.37:g.45498926T>C	ENSP00000298299:p.Ile37Thr					C10orf25_uc010qff.1_5'Flank|C10orf25_uc001jbv.1_5'Flank|uc001jbx.1_RNA	p.I37T	NM_006963	NP_008894	P17026	ZNF22_HUMAN			2	353	+		Prostate(175;0.0352)|all_neural(218;0.202)	37					Q5T741|Q96FM4	Missense_Mutation	SNP	ENST00000298299.3	37	c.110T>C	CCDS7211.1	.	.	.	.	.	.	.	.	.	.	T	3.775	-0.046869	0.07407	.	.	ENSG00000165512	ENST00000298299	T	0.07688	3.17	4.94	3.86	0.44501	.	1.265660	0.05616	N	0.578960	T	0.06416	0.0165	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32295	-0.9912	10	0.87932	D	0	-0.6459	5.6449	0.17584	0.0:0.183:0.0:0.817	.	37	P17026	ZNF22_HUMAN	T	37	ENSP00000298299:I37T	ENSP00000298299:I37T	I	+	2	0	ZNF22	44818932	0.996000	0.38824	0.221000	0.23827	0.120000	0.20174	2.357000	0.44125	1.055000	0.40461	0.533000	0.62120	ATT		0.463	ZNF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047761.1	NM_006963		14	52	0	0	0	0	14	52				
DYDC2	84332	broad.mit.edu	37	10	82126492	82126492	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr10:82126492G>A	ENST00000372199.1	+	6	917	c.319G>A	c.(319-321)Gag>Aag	p.E107K	DYDC2_ENST00000256039.2_Missense_Mutation_p.E107K|DYDC2_ENST00000372197.1_Missense_Mutation_p.E107K|DYDC2_ENST00000372198.1_Missense_Mutation_p.E121K|DYDC2_ENST00000444807.2_Missense_Mutation_p.E107K			Q96IM9	DYDC2_HUMAN	DPY30 domain containing 2	107										breast(1)|large_intestine(3)|lung(6)|skin(1)	11			Colorectal(32;0.229)			ATTCATGCAGGAGGACACAAA	0.438																																						uc001kca.1		NA																	0					0						c.(319-321)GAG>AAG		DPY30 domain containing 2							126.0	131.0	130.0					10																	82126492		2203	4300	6503	SO:0001583	missense	84332						protein binding	g.chr10:82126492G>A	BC018606	CCDS7367.1, CCDS58088.1	10q23.1	2006-06-16			ENSG00000133665	ENSG00000133665			23468	protein-coding gene	gene with protein product						12477932	Standard	NM_032372		Approved	bA36D19.6, MGC16186	uc031pwk.1	Q96IM9	OTTHUMG00000018610	ENST00000372199.1:c.319G>A	10.37:g.82126492G>A	ENSP00000361273:p.Glu107Lys					DYDC2_uc001kbz.1_RNA|DYDC2_uc001kcb.1_Missense_Mutation_p.E107K	p.E107K	NM_032372	NP_115748	Q96IM9	DYDC2_HUMAN	Colorectal(32;0.229)		5	699	+			107					D3DWD6|Q5QP07|Q5QP11	Missense_Mutation	SNP	ENST00000372199.1	37	c.319G>A	CCDS7367.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.096982	0.76870	.	.	ENSG00000133665	ENST00000372199;ENST00000372198;ENST00000372197;ENST00000444807;ENST00000411538;ENST00000256039	T;T;T;T;T	0.57107	0.55;0.42;0.55;0.55;0.55	4.68	3.78	0.43462	.	0.229575	0.31246	N	0.007986	T	0.40145	0.1105	L	0.34521	1.04	0.09310	N	1	P	0.46859	0.885	B	0.42386	0.386	T	0.24476	-1.0159	10	0.38643	T	0.18	-14.2998	8.9843	0.35983	0.0983:0.0:0.9017:0.0	.	107	Q96IM9	DYDC2_HUMAN	K	107;121;107;107;107;107	ENSP00000361273:E107K;ENSP00000361272:E121K;ENSP00000361271:E107K;ENSP00000410285:E107K;ENSP00000256039:E107K	ENSP00000256039:E107K	E	+	1	0	DYDC2	82116472	0.388000	0.25197	0.076000	0.20297	0.355000	0.29361	0.854000	0.27791	1.582000	0.49881	-0.140000	0.14226	GAG		0.438	DYDC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049063.1	NM_032372		33	115	0	0	0	0	33	115				
HELLS	3070	broad.mit.edu	37	10	96350210	96350210	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr10:96350210G>T	ENST00000348459.5	+	14	1634	c.1529G>T	c.(1528-1530)cGa>cTa	p.R510L	RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000394045.1_Missense_Mutation_p.R412L|HELLS_ENST00000371332.4_Missense_Mutation_p.R556L|HELLS_ENST00000394036.1_3'UTR	NM_018063.3	NP_060533.2			helicase, lymphoid-specific											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		CGACCAAAACGACGAACTAGA	0.343																																						uc001kjt.2		NA																	0				ovary(1)|kidney(1)	2						c.(1528-1530)CGA>CTA		helicase, lymphoid-specific							60.0	61.0	61.0					10																	96350210		2203	4300	6503	SO:0001583	missense	3070				cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity	g.chr10:96350210G>T	AF155827	CCDS7434.1, CCDS73162.1, CCDS73163.1, CCDS73164.1, CCDS73165.1	10q24.2	2008-08-01			ENSG00000119969	ENSG00000119969			4861	protein-coding gene	gene with protein product	"""SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6"", ""proliferation-associated SNF2-like protein"""	603946				9878251, 10910076	Standard	NM_018063		Approved	PASG, SMARCA6, LSH, Nbla10143	uc001kjt.3	Q9NRZ9	OTTHUMG00000018793	ENST00000348459.5:c.1529G>T	10.37:g.96350210G>T	ENSP00000239027:p.Arg510Leu					HELLS_uc001kjs.2_Missense_Mutation_p.R494L|HELLS_uc009xul.2_Missense_Mutation_p.R412L|HELLS_uc009xum.2_Missense_Mutation_p.R380L|HELLS_uc009xun.2_Missense_Mutation_p.R386L|HELLS_uc009xuo.2_Missense_Mutation_p.R556L|HELLS_uc001kju.2_Missense_Mutation_p.R149L|HELLS_uc009xup.2_RNA|HELLS_uc009xuq.2_Missense_Mutation_p.R372L|HELLS_uc009xur.2_RNA	p.R510L	NM_018063	NP_060533	Q9NRZ9	HELLS_HUMAN		all cancers(201;2.13e-05)	14	1634	+		Colorectal(252;0.0429)	510						Missense_Mutation	SNP	ENST00000348459.5	37	c.1529G>T	CCDS7434.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.697617	0.88830	.	.	ENSG00000119969	ENST00000348459;ENST00000394045;ENST00000371332	D;D;D	0.90620	-2.49;-2.13;-2.7	5.48	5.48	0.80851	SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.95149	0.8428	M	0.76938	2.355	0.80722	D	1	P;D;D;D;D	0.89917	0.619;1.0;1.0;0.996;0.993	B;D;D;D;D	0.79108	0.362;0.991;0.988;0.992;0.949	D	0.95505	0.8581	10	0.87932	D	0	-9.4508	16.5016	0.84259	0.0:0.0:1.0:0.0	.	494;510;380;412;510	Q9NRZ9-2;Q6I7N8;Q9NRZ9-6;Q9NRZ9-5;Q9NRZ9	.;.;.;.;HELLS_HUMAN	L	510;412;556	ENSP00000239027:R510L;ENSP00000377609:R412L;ENSP00000360383:R556L	ENSP00000239027:R510L	R	+	2	0	HELLS	96340200	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	8.034000	0.88864	2.559000	0.86315	0.655000	0.94253	CGA		0.343	HELLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049475.1	NM_018063		12	46	1	0	2.27e-07	2.69e-07	12	46				
PTPRE	5791	broad.mit.edu	37	10	129839235	129839235	+	Silent	SNP	C	C	T	rs144835853		TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr10:129839235C>T	ENST00000254667.3	+	3	369	c.90C>T	c.(88-90)aaC>aaT	p.N30N	PTPRE_ENST00000471218.1_Silent_p.N30N|PTPRE_ENST00000419012.2_Silent_p.N30N|PTPRE_ENST00000430713.2_Silent_p.N30N	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	30					negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	CCGACAGCAACGAGACAACCA	0.607																																					Colon(52;977 1184 20575 41685)	uc001lkb.2		NA																	0				ovary(1)	1						c.(88-90)AAC>AAT		protein tyrosine phosphatase, receptor type, E		C		0,4406		0,0,2203	101.0	81.0	88.0		90	3.6	1.0	10	dbSNP_134	88	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PTPRE	NM_006504.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		30/701	129839235	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5791				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr10:129839235C>T	AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.90C>T	10.37:g.129839235C>T						PTPRE_uc009yat.2_Silent_p.N41N|PTPRE_uc010qup.1_RNA|PTPRE_uc009yau.2_Silent_p.N30N|PTPRE_uc001lkc.1_RNA	p.N30N	NM_006504	NP_006495	P23469	PTPRE_HUMAN			3	369	+		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)	30			Extracellular (Potential).		Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Silent	SNP	ENST00000254667.3	37	c.90C>T	CCDS7657.1	.	.	.	.	.	.	.	.	.	.	C	4.668	0.124226	0.08931	0.0	1.16E-4	ENSG00000132334	ENST00000439034	.	.	.	4.52	3.61	0.41365	.	.	.	.	.	T	0.61110	0.2321	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61422	-0.7066	5	0.51188	T	0.08	.	7.8117	0.29234	0.0:0.8906:0.0:0.1094	.	.	.	.	M	44	.	ENSP00000415807:T44M	T	+	2	0	PTPRE	129729225	0.836000	0.29430	0.997000	0.53966	0.523000	0.34469	1.033000	0.30191	2.503000	0.84419	0.650000	0.86243	ACG		0.607	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050990.1			4	23	0	0	0	0	4	23				
LGR4	55366	broad.mit.edu	37	11	27395209	27395209	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr11:27395209T>A	ENST00000379214.4	-	15	1711	c.1268A>T	c.(1267-1269)aAt>aTt	p.N423I	LGR4_ENST00000389858.4_Missense_Mutation_p.N399I	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	423					bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						AGTTAATTCATTGAAACTTAC	0.333																																						uc001mrj.3		NA																	0				ovary(1)	1						c.(1267-1269)AAT>ATT		leucine-rich repeat-containing G protein-coupled							68.0	69.0	69.0					11																	27395209		2202	4299	6501	SO:0001583	missense	55366					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr11:27395209T>A	AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"""GPCR / Class A : Orphans"""	13299	protein-coding gene	gene with protein product		606666	"""G protein-coupled receptor 48"", ""leucine-rich repeat-containing G protein-coupled receptor 4"""	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.1268A>T	11.37:g.27395209T>A	ENSP00000368516:p.Asn423Ile					LGR4_uc001mrk.3_Missense_Mutation_p.N399I	p.N423I	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN			15	1753	-			423			LRR 15.|Extracellular (Potential).		A6NCH3|G5E9B3|Q8N537|Q9NYD1	Missense_Mutation	SNP	ENST00000379214.4	37	c.1268A>T	CCDS31449.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.480257	0.84747	.	.	ENSG00000205213	ENST00000379214;ENST00000389858	T;T	0.38560	3.63;1.13	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.76364	0.3977	H	0.96889	3.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.85116	0.0966	10	0.87932	D	0	.	15.4884	0.75584	0.0:0.0:0.0:1.0	.	399;423	G5E9B3;Q9BXB1	.;LGR4_HUMAN	I	423;399	ENSP00000368516:N423I;ENSP00000374508:N399I	ENSP00000368516:N423I	N	-	2	0	LGR4	27351785	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.841000	0.86834	2.073000	0.62155	0.533000	0.62120	AAT		0.333	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257467.1	NM_018490		18	25	0	0	0	0	18	25				
OR4D10	390197	broad.mit.edu	37	11	59245249	59245249	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr11:59245249C>T	ENST00000530162.1	+	1	404	c.347C>T	c.(346-348)tCg>tTg	p.S116L		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	116						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S114L(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTTTCTCTTTCGGTGATGGCA	0.478																																						uc001nnz.1		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(2)|skin(1)	3						c.(346-348)TCG>TTG		olfactory receptor, family 4, subfamily D,							80.0	81.0	81.0					11																	59245249		2170	4280	6450	SO:0001583	missense	390197				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59245249C>T	AB065808	CCDS53636.1	11q12.1	2012-10-03		2004-03-10	ENSG00000254466	ENSG00000254466		"""GPCR / Class A : Olfactory receptors"""	15173	protein-coding gene	gene with protein product				OR4D10P			Standard	NM_001004705		Approved	OST711	uc001nnz.1	Q8NGI6	OTTHUMG00000167341	ENST00000530162.1:c.347C>T	11.37:g.59245249C>T	ENSP00000436424:p.Ser116Leu						p.S116L	NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN			1	347	+			116			Helical; Name=3; (Potential).		B2RNH6	Missense_Mutation	SNP	ENST00000530162.1	37	c.347C>T	CCDS53636.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.516658	0.27123	.	.	ENSG00000254466	ENST00000530162	T	0.00388	7.59	4.4	3.46	0.39613	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00300	0.0009	L	0.47016	1.485	0.09310	N	1	P	0.43938	0.822	B	0.34779	0.189	T	0.55805	-0.8083	9	0.51188	T	0.08	.	13.1267	0.59360	0.0:0.8372:0.1628:0.0	.	116	Q8NGI6	OR4DA_HUMAN	L	116	ENSP00000436424:S116L	ENSP00000436424:S116L	S	+	2	0	OR4D10	59001825	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.571000	0.23669	0.915000	0.36847	0.655000	0.94253	TCG		0.478	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394235.1	NM_001004705		25	68	0	0	0	0	25	68				
ADAMTS8	11095	broad.mit.edu	37	11	130275560	130275560	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr11:130275560G>A	ENST00000257359.6	-	9	3269	c.2563C>T	c.(2563-2565)Cga>Tga	p.R855*		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	855	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		TCTACAGTTCGCCTCTGCCAG	0.652																																						uc001qgg.3		NA																	0				central_nervous_system(1)	1						c.(2563-2565)CGA>TGA		ADAM metallopeptidase with thrombospondin type 1							54.0	65.0	61.0					11																	130275560		2018	4183	6201	SO:0001587	stop_gained	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130275560G>A	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.2563C>T	11.37:g.130275560G>A	ENSP00000257359:p.Arg855*					ADAMTS8_uc001qgf.2_Nonsense_Mutation_p.R336*	p.R855*	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	9	2921	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	855			TSP type-1 2.		Q9NZS0	Nonsense_Mutation	SNP	ENST00000257359.6	37	c.2563C>T	CCDS41732.1	.	.	.	.	.	.	.	.	.	.	G	44	10.898999	0.99485	.	.	ENSG00000134917	ENST00000531752;ENST00000257359;ENST00000414575	.	.	.	5.35	4.42	0.53409	.	0.051335	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3303	0.74203	0.0:0.0:0.8589:0.1411	.	.	.	.	X	253;855;884	.	ENSP00000257359:R855X	R	-	1	2	ADAMTS8	129780770	1.000000	0.71417	0.996000	0.52242	0.309000	0.27889	2.078000	0.41567	1.233000	0.43693	-0.282000	0.10007	CGA		0.652	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		5	86	0	0	0	0	5	86				
SRGAP1	57522	broad.mit.edu	37	12	64456755	64456755	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr12:64456755C>G	ENST00000355086.3	+	7	1384	c.860C>G	c.(859-861)gCg>gGg	p.A287G	RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000357825.3_Missense_Mutation_p.A287G|SRGAP1_ENST00000543397.1_Missense_Mutation_p.A247G	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	287	F-BAR domain.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TATCTGTCTGCGGAGTACAAC	0.413																																						uc010ssp.1		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(859-861)GCG>GGG		SLIT-ROBO Rho GTPase activating protein 1							89.0	82.0	84.0					12																	64456755		2203	4300	6503	SO:0001583	missense	57522				axon guidance	cytosol		g.chr12:64456755C>G	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.860C>G	12.37:g.64456755C>G	ENSP00000347198:p.Ala287Gly					SRGAP1_uc001srt.2_Missense_Mutation_p.A287G|SRGAP1_uc001srv.2_Missense_Mutation_p.A247G	p.A287G	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	7	916	+			287					Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	c.860C>G	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.668376	0.88348	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.57273	0.41;0.41;0.41	4.65	4.65	0.58169	.	0.000000	0.34750	U	0.003718	T	0.76241	0.3960	M	0.87682	2.9	0.80722	D	1	D;D;D	0.71674	0.98;0.998;0.997	P;D;D	0.71184	0.858;0.972;0.954	T	0.79276	-0.1870	9	.	.	.	.	18.8491	0.92220	0.0:1.0:0.0:0.0	.	287;247;287	Q7Z6B7;G5EA48;Q7Z6B7-2	SRGP1_HUMAN;.;.	G	287;287;247	ENSP00000347198:A287G;ENSP00000350480:A287G;ENSP00000437948:A247G	.	A	+	2	0	SRGAP1	62743022	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	7.588000	0.82629	2.868000	0.98415	0.557000	0.71058	GCG		0.413	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			7	30	0	0	0	0	7	30				
ACACB	32	broad.mit.edu	37	12	109696115	109696115	+	Silent	SNP	G	G	T			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr12:109696115G>T	ENST00000338432.7	+	46	6425	c.6306G>T	c.(6304-6306)cgG>cgT	p.R2102R	ACACB_ENST00000543201.1_Silent_p.R768R|ACACB_ENST00000377854.5_Silent_p.R2032R|ACACB_ENST00000377848.3_Silent_p.R2102R			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2102	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	TGGAGACACGGACTGTGGAGG	0.632																																						uc001tob.2		NA																	0				ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(6304-6306)CGG>CGT		acetyl-Coenzyme A carboxylase beta	Biotin(DB00121)						66.0	58.0	61.0					12																	109696115		2203	4300	6503	SO:0001819	synonymous_variant	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109696115G>T	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.6306G>T	12.37:g.109696115G>T						ACACB_uc001toc.2_Silent_p.R2102R|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Silent_p.R768R	p.R2102R	NM_001093	NP_001084	O00763	ACACB_HUMAN			46	6425	+			2102			Carboxyltransferase.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	ENST00000338432.7	37	c.6306G>T	CCDS31898.1																																																																																				0.632	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		9	32	1	0	2.18e-05	2.5e-05	9	32				
MED13L	23389	broad.mit.edu	37	12	116408480	116408480	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr12:116408480T>C	ENST00000281928.3	-	27	6192	c.5986A>G	c.(5986-5988)Atc>Gtc	p.I1996V		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1996						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		AACACCAAGATGTGTGTACAA	0.478																																						uc001tvw.2		NA																	0				skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8						c.(5986-5988)ATC>GTC		mediator complex subunit 13-like							193.0	158.0	170.0					12																	116408480		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116408480T>C	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.5986A>G	12.37:g.116408480T>C	ENSP00000281928:p.Ile1996Val						p.I1996V	NM_015335	NP_056150	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	27	6041	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		1996					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.5986A>G	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	T	31	5.104521	0.94245	.	.	ENSG00000123066	ENST00000281928	D	0.83419	-1.72	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.92038	0.7477	M	0.86420	2.815	0.80722	D	1	D	0.63880	0.993	D	0.76071	0.987	D	0.93211	0.6600	10	0.72032	D	0.01	.	15.8583	0.79000	0.0:0.0:0.0:1.0	.	1996	Q71F56	MD13L_HUMAN	V	1996	ENSP00000281928:I1996V	ENSP00000281928:I1996V	I	-	1	0	MED13L	114892863	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.525000	0.81892	2.326000	0.78906	0.533000	0.62120	ATC		0.478	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			11	47	0	0	0	0	11	47				
SPATA13	221178	broad.mit.edu	37	13	24876816	24876816	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr13:24876816G>A	ENST00000382095.4	+	12	2271	c.1864G>A	c.(1864-1866)Gtc>Atc	p.V622I	RP11-307N16.6_ENST00000382141.4_Intron|SPATA13_ENST00000382108.3_Missense_Mutation_p.V1247I|SPATA13_ENST00000409126.1_Missense_Mutation_p.V482I|SPATA13_ENST00000424834.2_Missense_Mutation_p.V1247I|SPATA13_ENST00000343003.6_Missense_Mutation_p.V566I|SPATA13_ENST00000399949.2_Missense_Mutation_p.V544I	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	622	C-terminal tail.				cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		GCCCACAAGCGTCCCCCAGCA	0.622																																						uc001upg.1		NA																	0				skin(2)|ovary(1)	3						c.(1864-1866)GTC>ATC		spermatogenesis associated 13							127.0	121.0	123.0					13																	24876816		2203	4300	6503	SO:0001583	missense	221178				cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity	g.chr13:24876816G>A	AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.1864G>A	13.37:g.24876816G>A	ENSP00000371527:p.Val622Ile					SPATA13_uc001upd.1_Missense_Mutation_p.V1247I|C1QTNF9_uc001upe.2_Intron|SPATA13_uc010tcy.1_Missense_Mutation_p.R569H|SPATA13_uc010tcz.1_Missense_Mutation_p.V506I|SPATA13_uc010tda.1_Missense_Mutation_p.V566I|SPATA13_uc001uph.2_Missense_Mutation_p.V544I|SPATA13_uc010tdb.1_Missense_Mutation_p.V482I|SPATA13_uc009zzz.1_Missense_Mutation_p.R179H	p.V622I	NM_153023	NP_694568	Q96N96	SPT13_HUMAN		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)	12	2271	+		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)	622			C-terminal tail.		A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Missense_Mutation	SNP	ENST00000382095.4	37	c.1864G>A	CCDS9305.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.770|2.770	-0.255893|-0.255893	0.05829|0.05829	.|.	.|.	ENSG00000182957|ENSG00000182957	ENST00000424834;ENST00000438694|ENST00000382108;ENST00000382095;ENST00000434675;ENST00000399949;ENST00000409126;ENST00000343003	.|T;T;T;T;T;T	.|0.36340	.|1.26;1.26;1.26;1.26;1.26;1.26	6.07|6.07	-7.54|-7.54	0.01332|0.01332	.|.	.|0.680193	.|0.14686	.|N	.|0.304445	T|T	0.10121|0.10121	0.0248|0.0248	N|N	0.02368|0.02368	-0.58|-0.58	0.21105|0.21105	N|N	0.99978|0.99978	B|B;B;B;B;B	0.06786|0.09022	0.001|0.0;0.002;0.0;0.001;0.0	B|B;B;B;B;B	0.06405|0.06405	0.002|0.001;0.002;0.001;0.002;0.001	T|T	0.34576|0.34576	-0.9823|-0.9823	7|10	.|0.11485	.|T	.|0.65	.|.	10.0195|10.0195	0.42035|0.42035	0.4188:0.3541:0.227:0.0|0.4188:0.3541:0.227:0.0	.|.	569|482;566;506;544;622	Q96N96-4|E9PFR9;Q96N96-3;Q96N96-5;Q96N96-2;Q96N96	.|.;.;.;.;SPT13_HUMAN	H|I	1284;569|1247;622;520;544;482;566	.|ENSP00000371542:V1247I;ENSP00000371527:V622I;ENSP00000401605:V520I;ENSP00000382830:V544I;ENSP00000386471:V482I;ENSP00000343631:V566I	.|ENSP00000343631:V566I	R|V	+|+	2|1	0|0	SPATA13|SPATA13	23774816|23774816	0.071000|0.071000	0.21146|0.21146	0.002000|0.002000	0.10522|0.10522	0.618000|0.618000	0.37518|0.37518	-0.517000|-0.517000	0.06275|0.06275	-1.431000|-1.431000	0.01982|0.01982	0.655000|0.655000	0.94253|0.94253	CGT|GTC		0.622	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044180.2	NM_153023		29	102	0	0	0	0	29	102				
DOCK9	23348	broad.mit.edu	37	13	99449739	99449739	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr13:99449739T>C	ENST00000376460.1	-	54	6043	c.5963A>G	c.(5962-5964)aAt>aGt	p.N1988S	DOCK9_ENST00000339416.2_Missense_Mutation_p.N1975S	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1989	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGGGCCAGCATTGACCTAGAC	0.428																																						uc001vnt.2		NA																	0				central_nervous_system(1)	1						c.(5965-5967)AAT>AGT		dedicator of cytokinesis 9 isoform a							102.0	86.0	91.0					13																	99449739		1906	4132	6038	SO:0001583	missense	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99449739T>C	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.5963A>G	13.37:g.99449739T>C	ENSP00000365643:p.Asn1988Ser					DOCK9_uc001vnw.2_Missense_Mutation_p.N1988S|DOCK9_uc001vnq.2_Missense_Mutation_p.N536S|DOCK9_uc001vnr.2_Missense_Mutation_p.N618S|DOCK9_uc010tin.1_Missense_Mutation_p.N607S|DOCK9_uc001vns.2_Missense_Mutation_p.N524S|DOCK9_uc010tio.1_Missense_Mutation_p.N644S|DOCK9_uc010tip.1_Missense_Mutation_p.N685S	p.N1989S	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN			53	6021	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		1989			DHR-2.		B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000376460.1	37	c.5966A>G	CCDS45062.1	.	.	.	.	.	.	.	.	.	.	T	15.98	2.992364	0.54041	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000400220;ENST00000339416;ENST00000376453	T;T	0.25250	1.81;1.81	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.62514	0.2434	H	0.94582	3.555	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.999;0.994;1.0;0.997;0.997	T	0.74873	-0.3516	10	0.87932	D	0	.	14.8041	0.69938	0.0:0.0:0.0:1.0	.	694;607;1988;1989;644;606	B7Z6H5;B7Z2J2;Q9BZ29-5;Q9BZ29;B7Z6G9;F5H1Q4	.;.;.;DOCK9_HUMAN;.;.	S	1988;1989;1981;1966;1988;896;1975;606	ENSP00000365643:N1988S;ENSP00000341086:N1975S	ENSP00000341086:N1975S	N	-	2	0	DOCK9	98247740	1.000000	0.71417	0.995000	0.50966	0.097000	0.18754	7.698000	0.84413	1.893000	0.54813	0.459000	0.35465	AAT		0.428	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296		4	18	0	0	0	0	4	18				
MNAT1	4331	broad.mit.edu	37	14	61201602	61201602	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr14:61201602C>T	ENST00000261245.4	+	1	123	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W	MNAT1_ENST00000539616.2_Missense_Mutation_p.R8W|MNAT1_ENST00000555545.1_3'UTR	NM_002431.3	NP_002422.1	P51948	MAT1_HUMAN	MNAT CDK-activating kinase assembly factor 1	8					7-methylguanosine mRNA capping (GO:0006370)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to calcium ion (GO:0051592)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|ventricular system development (GO:0021591)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0174)		GGGTTGCCCTCGGTGTAAGAC	0.592								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)																														uc001xfd.2		NA																	0				ovary(1)|lung(1)	2						c.(22-24)CGG>TGG	Direct_reversal_of_damage|NER	menage a trois 1 (CAK assembly factor)							103.0	82.0	89.0					14																	61201602		2203	4300	6503	SO:0001583	missense	4331				cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein complex assembly|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cytoplasm|holo TFIIH complex	protein N-terminus binding|zinc ion binding	g.chr14:61201602C>T	X87843	CCDS9750.1, CCDS53899.1	14q23	2013-07-31	2013-07-31		ENSG00000020426	ENSG00000020426		"""RING-type (C3HC4) zinc fingers"", ""General transcription factor IIH complex subunits"""	7181	protein-coding gene	gene with protein product	"""CDK-activating kinase assembly factor"""	602659	"""menage a trois 1 (CAK assembly factor)"", ""menage a trois homolog 1, cyclin H assembly factor (Xenopus laevis)"""			9465303	Standard	NM_002431		Approved	MAT1, RNF66	uc001xfd.3	P51948	OTTHUMG00000152340	ENST00000261245.4:c.22C>T	14.37:g.61201602C>T	ENSP00000261245:p.Arg8Trp					MNAT1_uc010apq.1_Missense_Mutation_p.R8W|MNAT1_uc001xfe.2_Missense_Mutation_p.R8W	p.R8W	NM_002431	NP_002422	P51948	MAT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0174)	1	133	+			8			RING-type.		G3V1U8|Q15817|Q6ICQ7	Missense_Mutation	SNP	ENST00000261245.4	37	c.22C>T	CCDS9750.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.973663	0.74246	.	.	ENSG00000020426	ENST00000261245;ENST00000539616	T;T	0.47869	0.83;0.88	5.65	2.64	0.31445	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	T	0.66076	0.2753	M	0.77820	2.39	0.54753	D	0.999981	D;D	0.89917	1.0;0.999	D;P	0.68483	0.958;0.893	T	0.65199	-0.6226	10	0.38643	T	0.18	0.8245	14.146	0.65351	0.5693:0.4307:0.0:0.0	.	8;8	G3V1U8;P51948	.;MAT1_HUMAN	W	8	ENSP00000261245:R8W;ENSP00000446437:R8W	ENSP00000261245:R8W	R	+	1	2	MNAT1	60271355	0.998000	0.40836	0.998000	0.56505	0.942000	0.58702	0.944000	0.29043	0.233000	0.21120	-0.284000	0.09977	CGG		0.592	MNAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276956.1	NM_002431		6	65	0	0	0	0	6	65				
EIF2B2	8892	broad.mit.edu	37	14	75469994	75469994	+	Silent	SNP	G	G	T			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr14:75469994G>T	ENST00000266126.5	+	2	260	c.180G>T	c.(178-180)ctG>ctT	p.L60L	RP11-950C14.3_ENST00000554430.1_RNA	NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	60					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|central nervous system development (GO:0007417)|gene expression (GO:0010467)|myelination (GO:0042552)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		TGATGGAGCTGATCCGCAGAG	0.582																																						uc001xrc.1		NA																	0				ovary(1)	1						c.(178-180)CTG>CTT		eukaryotic translation initiation factor 2B,							41.0	40.0	40.0					14																	75469994		2203	4300	6503	SO:0001819	synonymous_variant	8892				cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity	g.chr14:75469994G>T		CCDS9836.1	14q24.3	2008-08-11	2002-08-29			ENSG00000119718			3258	protein-coding gene	gene with protein product		606454	"""eukaryotic translation initiation factor 2B, subunit 2 (beta, 39kD)"""			8887689	Standard	NM_014239		Approved	EIF2B, EIF-2Bbeta	uc001xrc.2	P49770		ENST00000266126.5:c.180G>T	14.37:g.75469994G>T							p.L60L	NM_014239	NP_055054	P49770	EI2BB_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00661)	2	262	+			60					O43201	Silent	SNP	ENST00000266126.5	37	c.180G>T	CCDS9836.1																																																																																				0.582	EIF2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414993.1	NM_014239		8	23	1	0	1.07e-07	1.28e-07	8	23				
LCMT2	9836	broad.mit.edu	37	15	43622318	43622318	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr15:43622318C>G	ENST00000305641.5	-	1	485	c.370G>C	c.(370-372)Gaa>Caa	p.E124Q	LCMT2_ENST00000544735.1_Intron|ADAL_ENST00000422466.2_5'Flank|LCMT2_ENST00000567039.1_Intron|ADAL_ENST00000389651.4_5'Flank|ADAL_ENST00000428046.3_5'Flank	NM_014793.4	NP_055608.2	O60294	TYW4_HUMAN	leucine carboxyl methyltransferase 2	124					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	CCAATCCTTTCTGCTTTGCGC	0.627																																						uc001zrg.2		NA																	0					0						c.(370-372)GAA>CAA		leucine carboxyl methyltransferase 2	L-Leucine(DB00149)						36.0	42.0	40.0					15																	43622318		2200	4297	6497	SO:0001583	missense	9836				tRNA processing		methyltransferase activity|protein binding	g.chr15:43622318C>G	AF265443	CCDS10094.1	15q15.3	2007-01-26			ENSG00000168806	ENSG00000168806			17558	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 4"""	611246				9628581, 17150819	Standard	NM_014793		Approved	KIAA0547, MGC9534, TYW4, PPM2	uc001zrg.3	O60294	OTTHUMG00000130705	ENST00000305641.5:c.370G>C	15.37:g.43622318C>G	ENSP00000307214:p.Glu124Gln					LCMT2_uc010udn.1_Intron|ADAL_uc001zrh.2_5'Flank|ADAL_uc010udo.1_5'Flank	p.E124Q	NM_014793	NP_055608	O60294	LCMT2_HUMAN		GBM - Glioblastoma multiforme(94;8.1e-07)	1	574	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	124					Q4JFT6|Q96B55|Q9NR10	Missense_Mutation	SNP	ENST00000305641.5	37	c.370G>C	CCDS10094.1	.	.	.	.	.	.	.	.	.	.	C	2.944	-0.218180	0.06101	.	.	ENSG00000168806	ENST00000305641	T	0.21932	1.98	5.44	1.42	0.22433	.	0.811825	0.11286	N	0.579800	T	0.11537	0.0281	L	0.29908	0.895	0.09310	N	0.999993	B	0.15473	0.013	B	0.12837	0.008	T	0.39683	-0.9602	10	0.13470	T	0.59	-31.2544	2.5928	0.04847	0.1361:0.424:0.2842:0.1557	.	124	O60294	LCMT2_HUMAN	Q	124	ENSP00000307214:E124Q	ENSP00000307214:E124Q	E	-	1	0	LCMT2	41409610	0.006000	0.16342	0.051000	0.19133	0.023000	0.10783	0.367000	0.20382	0.114000	0.18032	-0.140000	0.14226	GAA		0.627	LCMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253205.1	NM_014793		3	99	0	0	0	0	3	99				
MTHFS	10588	broad.mit.edu	37	15	80181637	80181637	+	Silent	SNP	T	T	C			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr15:80181637T>C	ENST00000258874.3	-	2	237	c.177A>G	c.(175-177)caA>caG	p.Q59Q	ST20-MTHFS_ENST00000479961.1_Silent_p.Q35Q|MTHFS_ENST00000559722.1_5'UTR|ST20-MTHFS_ENST00000494999.1_5'UTR	NM_006441.3	NP_006432.1	P49914	MTHFS_HUMAN	5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)	59					formate metabolic process (GO:0015942)|tetrahydrofolate metabolic process (GO:0046653)	cytoplasm (GO:0005737)	5-formyltetrahydrofolate cyclo-ligase activity (GO:0030272)|ATP binding (GO:0005524)|folic acid binding (GO:0005542)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(1)|liver(1)	5				all cancers(203;0.00467)		CAATTTCATCTTGCATGCTCA	0.398																																						uc002bex.3		NA																	0					0						c.(175-177)CAA>CAG		5,10-methenyltetrahydrofolate synthetase																																				SO:0001819	synonymous_variant	10588				folic acid-containing compound biosynthetic process|formate metabolic process|tetrahydrofolate metabolic process	cytosol|Golgi apparatus|plasma membrane	5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|folic acid binding	g.chr15:80181637T>C	L38928	CCDS10311.1	15q24.3	2014-05-15			ENSG00000136371	ENSG00000136371	6.3.3.2		7437	protein-coding gene	gene with protein product		604197				8522195	Standard	NM_006441		Approved	HsT19268	uc002bex.4	P49914	OTTHUMG00000144174	ENST00000258874.3:c.177A>G	15.37:g.80181637T>C							p.Q59Q	NM_006441	NP_006432	P49914	MTHFS_HUMAN		all cancers(203;0.00467)	2	217	-			59					H3BQ75	Silent	SNP	ENST00000258874.3	37	c.177A>G	CCDS10311.1																																																																																				0.398	MTHFS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291374.2	NM_006441		12	61	0	0	0	0	12	61				
TICRR	90381	broad.mit.edu	37	15	90168446	90168446	+	Silent	SNP	C	C	A			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr15:90168446C>A	ENST00000268138.7	+	20	5010	c.4905C>A	c.(4903-4905)ggC>ggA	p.G1635G	KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Silent_p.G1634G			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1635					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										GCACACCTGGCAAGAGCAGGG	0.612																																						uc002boe.2		NA																	0				ovary(4)|central_nervous_system(2)|skin(1)	7						c.(4903-4905)GGC>GGA		leucine-rich repeat kinase 1							38.0	40.0	39.0					15																	90168446		2199	4299	6498	SO:0001819	synonymous_variant	90381				cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding	g.chr15:90168446C>A	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.4905C>A	15.37:g.90168446C>A						C15orf42_uc010upv.1_RNA	p.G1635G	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		20	4905	+	Lung NSC(78;0.0237)|all_lung(78;0.0478)		1635					B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Silent	SNP	ENST00000268138.7	37	c.4905C>A	CCDS10352.2																																																																																				0.612	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		8	54	1	0	0.000274275	0.00030856	8	54				
PTX4	390667	broad.mit.edu	37	16	1537325	1537325	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr16:1537325G>C	ENST00000447419.2	-	2	813	c.788C>G	c.(787-789)cCa>cGa	p.P263R	PTX4_ENST00000293922.1_Missense_Mutation_p.P258R|PTX4_ENST00000440447.2_Intron			Q96A99	PTX4_HUMAN	pentraxin 4, long	263						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						ACTCTCTCCTGGCACCTGGGG	0.632																																						uc010uvf.1		NA																	0					0						c.(772-774)CCA>CGA		neuronal pentraxin II-like							42.0	49.0	47.0					16																	1537325		2199	4300	6499	SO:0001583	missense	390667					extracellular region	metal ion binding	g.chr16:1537325G>C		CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"""chromosome 16 open reading frame 38"""	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.788C>G	16.37:g.1537325G>C	ENSP00000445277:p.Pro263Arg						p.P258R	NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN			2	773	-			263						Missense_Mutation	SNP	ENST00000447419.2	37	c.773C>G		.	.	.	.	.	.	.	.	.	.	G	11.21	1.570112	0.28003	.	.	ENSG00000251692	ENST00000447419;ENST00000293922	T;T	0.05717	3.54;3.4	5.15	0.724	0.18236	.	2.054710	0.02069	N	0.051376	T	0.05868	0.0153	N	0.08118	0	0.09310	N	1	D	0.55172	0.97	P	0.50537	0.643	T	0.19582	-1.0301	10	0.29301	T	0.29	.	4.1203	0.10103	0.1767:0.0:0.501:0.3223	.	258	Q96A99-2	.	R	263;258	ENSP00000445277:P263R;ENSP00000293922:P258R	ENSP00000293922:P258R	P	-	2	0	PTX4	1477326	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	0.345000	0.19979	-0.007000	0.14345	-0.136000	0.14681	CCA		0.632	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432526.1	NM_001013658		9	45	0	0	0	0	9	45				
AARS	16	broad.mit.edu	37	16	70295032	70295032	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr16:70295032T>C	ENST00000261772.8	-	13	1843	c.1700A>G	c.(1699-1701)cAg>cGg	p.Q567R	AARS_ENST00000564359.1_5'UTR	NM_001605.2	NP_001596.2			alanyl-tRNA synthetase											breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)		TCCTCGGACCTGAGCATTCTT	0.398																																						uc002eyn.1		NA																	0				pancreas(1)	1						c.(1699-1701)CAG>CGG		alanyl-tRNA synthetase	L-Alanine(DB00160)						130.0	114.0	120.0					16																	70295032		2198	4300	6498	SO:0001583	missense	16				alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr16:70295032T>C	D32050	CCDS32474.1	16q22.1	2014-09-17			ENSG00000090861	ENSG00000090861	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	20	protein-coding gene	gene with protein product	"""alanine tRNA ligase 1, cytoplasmic"""	601065				8595897	Standard	NM_001605		Approved		uc002eyn.1	P49588	OTTHUMG00000177042	ENST00000261772.8:c.1700A>G	16.37:g.70295032T>C	ENSP00000261772:p.Gln567Arg					AARS_uc010vlu.1_Missense_Mutation_p.Q397R	p.Q567R	NM_001605	NP_001596	P49588	SYAC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.161)	13	1810	-		Ovarian(137;0.0365)	567						Missense_Mutation	SNP	ENST00000261772.8	37	c.1700A>G	CCDS32474.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.604618	0.87157	.	.	ENSG00000090861	ENST00000261772	T	0.73789	-0.78	5.94	4.84	0.62591	Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.055566	0.85682	N	0.000000	D	0.84469	0.5479	M	0.80847	2.515	0.80722	D	1	D;D	0.69078	0.997;0.995	D;D	0.69479	0.964;0.964	D	0.86091	0.1550	10	0.72032	D	0.01	-23.4379	10.6152	0.45445	0.0:0.0779:0.0:0.9221	.	575;567	E7ETK8;P49588	.;SYAC_HUMAN	R	567	ENSP00000261772:Q567R	ENSP00000261772:Q567R	Q	-	2	0	AARS	68852533	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	6.235000	0.72332	2.277000	0.76020	0.519000	0.50382	CAG		0.398	AARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435021.2	NM_001605		3	70	0	0	0	0	3	70				
ADAMTS18	170692	broad.mit.edu	37	16	77325275	77325275	+	Missense_Mutation	SNP	C	C	T	rs150975249	byFrequency	TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr16:77325275C>T	ENST00000282849.5	-	21	3708	c.3290G>A	c.(3289-3291)cGt>cAt	p.R1097H	RP11-538I12.3_ENST00000561672.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1097	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CTTAATATTACGGCATCTTCG	0.502													C|||	3	0.000599042	0.0	0.0	5008	,	,		20114	0.0		0.0	False		,,,				2504	0.0031					uc002ffc.3		NA																	0				large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						c.(3289-3291)CGT>CAT		ADAM metallopeptidase with thrombospondin type 1		C	HIS/ARG	0,4396		0,0,2198	216.0	219.0	218.0		3290	5.8	1.0	16	dbSNP_134	218	4,8596	3.7+/-12.6	0,4,4296	no	missense	ADAMTS18	NM_199355.2	29	0,4,6494	TT,TC,CC		0.0465,0.0,0.0308	benign	1097/1222	77325275	4,12992	2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77325275C>T	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.3290G>A	16.37:g.77325275C>T	ENSP00000282849:p.Arg1097His						p.R1097H	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN			21	3709	-			1097			TSP type-1 4.		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.3290G>A	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.850558	0.51270	0.0	4.65E-4	ENSG00000140873	ENST00000282849	T	0.60920	0.15	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.51601	0.1684	L	0.35723	1.085	0.58432	D	0.999997	B	0.25809	0.135	B	0.26517	0.07	T	0.41752	-0.9491	10	0.33940	T	0.23	.	19.0575	0.93072	0.0:1.0:0.0:0.0	.	1097	Q8TE60	ATS18_HUMAN	H	1097	ENSP00000282849:R1097H	ENSP00000282849:R1097H	R	-	2	0	ADAMTS18	75882776	1.000000	0.71417	0.962000	0.40283	0.175000	0.22909	6.797000	0.75150	2.758000	0.94735	0.563000	0.77884	CGT		0.502	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			23	234	0	0	0	0	23	234				
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs121912651		TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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	R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO680N_OESOPHAGUS)|R248W(SW837_LARGE_INTESTINE)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(RD_SOFT_TISSUE)|R248W(VCAP_PROSTATE)|R248W(JIMT1_BREAST)|R248W(GCT_SOFT_TISSUE)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(786O_KIDNEY)|R248W(COLO320_LARGE_INTESTINE)|R248W(LXF289_LUNG)|R248W(LUDLU1_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(HCC2157_BREAST)	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		617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	p.R248Q(516)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(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	CM010465|CM900211	TP53	M	rs121912651	c.(742-744)CGG>TGG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							151.0	112.0	125.0					17																	7577539		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577539G>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.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.2_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W	p.R248W	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	936	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.742C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		11	33	0	0	0	0	11	33				
TMEM104	54868	broad.mit.edu	37	17	72791738	72791738	+	Silent	SNP	C	C	T			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr17:72791738C>T	ENST00000335464.5	+	8	765	c.603C>T	c.(601-603)ccC>ccT	p.P201P	TMEM104_ENST00000417024.2_Silent_p.P214P|TMEM104_ENST00000582330.1_Silent_p.P201P|TMEM104_ENST00000582773.1_Silent_p.P201P	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	201						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					GCTGGGGGCCCCTGCGCCGAG	0.607																																						uc002jls.3		NA																	0					0						c.(601-603)CCC>CCT		transmembrane protein 104							56.0	48.0	51.0					17																	72791738		2203	4300	6503	SO:0001819	synonymous_variant	54868					integral to membrane		g.chr17:72791738C>T	AK074029	CCDS32723.1	17q25.1	2005-12-19				ENSG00000109066			25984	protein-coding gene	gene with protein product							Standard	NM_017728		Approved	FLJ20255, FLJ00021	uc002jls.4	Q8NE00		ENST00000335464.5:c.603C>T	17.37:g.72791738C>T						TMEM104_uc010wrf.1_Silent_p.P201P|TMEM104_uc010wrg.1_Silent_p.P214P|TMEM104_uc010dfx.2_Silent_p.P201P	p.P201P	NM_017728	NP_060198	Q8NE00	TM104_HUMAN			8	765	+	all_lung(278;0.23)		201			Extracellular (Potential).		Q8TEU1|Q9NT56|Q9NXH1	Silent	SNP	ENST00000335464.5	37	c.603C>T	CCDS32723.1																																																																																				0.607	TMEM104-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444442.1	NM_017728		9	30	0	0	0	0	9	30				
L3MBTL4	91133	broad.mit.edu	37	18	6264018	6264018	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr18:6264018C>A	ENST00000284898.6	-	5	347	c.147G>T	c.(145-147)caG>caT	p.Q49H	L3MBTL4_ENST00000317931.7_Missense_Mutation_p.Q49H|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.Q49H|L3MBTL4_ENST00000400104.3_Missense_Mutation_p.Q49H	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	49					chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				ACCATGCTCCCTGTGCAGCCG	0.423																																					Esophageal Squamous(41;748 902 17366 28959 43175)	uc002kmz.3		NA																	0				skin(2)|pancreas(1)	3						c.(145-147)CAG>CAT		l(3)mbt-like 4							72.0	74.0	74.0					18																	6264018		2203	4300	6503	SO:0001583	missense	91133				chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:6264018C>A	BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"""Sterile alpha motif (SAM) domain containing"""	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.147G>T	18.37:g.6264018C>A	ENSP00000284898:p.Gln49His					L3MBTL4_uc010dkt.2_Missense_Mutation_p.Q49H	p.Q49H	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN			5	307	-		Colorectal(10;0.0249)	49					A8MTL8|Q8IXS3	Missense_Mutation	SNP	ENST00000284898.6	37	c.147G>T	CCDS11839.2	.	.	.	.	.	.	.	.	.	.	C	8.132	0.783220	0.16189	.	.	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000400104	T;T;T;T	0.14391	2.51;2.51;2.51;2.72	5.04	1.12	0.20585	.	0.282172	0.27816	N	0.017736	T	0.07548	0.0190	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.30851	-0.9964	10	0.30854	T	0.27	.	4.2405	0.10645	0.3169:0.5086:0.0:0.1745	.	49	Q8NA19	LMBL4_HUMAN	H	49	ENSP00000382976:Q49H;ENSP00000318543:Q49H;ENSP00000284898:Q49H;ENSP00000382975:Q49H	ENSP00000284898:Q49H	Q	-	3	2	L3MBTL4	6254018	0.000000	0.05858	0.000000	0.03702	0.291000	0.27294	-0.355000	0.07671	-0.006000	0.14370	0.650000	0.86243	CAG		0.423	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254448.2	NM_173464		8	81	1	0	0.00448238	0.00491969	8	81				
ALPK2	115701	broad.mit.edu	37	18	56171233	56171233	+	Silent	SNP	C	C	T			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr18:56171233C>T	ENST00000361673.3	-	11	6390	c.6177G>A	c.(6175-6177)caG>caA	p.Q2059Q		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	2059	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TGCAACATTTCTGACCAGCTT	0.488																																						uc002lhj.3		NA																	0				ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						c.(6175-6177)CAG>CAA		heart alpha-kinase							212.0	196.0	201.0					18																	56171233		2203	4300	6503	SO:0001819	synonymous_variant	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56171233C>T	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.6177G>A	18.37:g.56171233C>T							p.Q2059Q	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN			11	6391	-			2059			Alpha-type protein kinase.		Q6ZUX0|Q8NAT5|Q96L95	Silent	SNP	ENST00000361673.3	37	c.6177G>A	CCDS11966.2																																																																																				0.488	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		8	116	0	0	0	0	8	116				
FZR1	51343	broad.mit.edu	37	19	3526259	3526259	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr19:3526259G>A	ENST00000395095.3	+	4	262	c.262G>A	c.(262-264)Ggc>Agc	p.G88S	FZR1_ENST00000313639.8_Missense_Mutation_p.G88S|FZR1_ENST00000441788.2_Missense_Mutation_p.G88S	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	88					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|lens fiber cell differentiation (GO:0070306)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell aging (GO:0090344)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCGCAGACGGCCTGGCCTA	0.677																																						uc010dtk.2		NA																	0				lung(1)|kidney(1)	2						c.(262-264)GGC>AGC		Fzr1 protein isoform 1							47.0	43.0	45.0					19																	3526259		2198	4297	6495	SO:0001583	missense	51343				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding	g.chr19:3526259G>A	AF083810	CCDS12109.1, CCDS45916.1, CCDS45917.1	19p13.3	2013-01-10				ENSG00000105325		"""WD repeat domain containing"""	24824	protein-coding gene	gene with protein product		603619				9734353, 11003657	Standard	NM_016263		Approved	HCDH1, CDH1, HCDH, FZR, FZR2, KIAA1242, CDC20C	uc010dtk.2	Q9UM11		ENST00000395095.3:c.262G>A	19.37:g.3526259G>A	ENSP00000378529:p.Gly88Ser					FZR1_uc002lxt.2_Missense_Mutation_p.G88S|FZR1_uc002lxv.2_Missense_Mutation_p.G88S	p.G88S	NM_001136198	NP_001129670	Q9UM11	FZR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	4	296	+			88					O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Missense_Mutation	SNP	ENST00000395095.3	37	c.262G>A	CCDS45916.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.513708	0.44763	.	.	ENSG00000105325	ENST00000441788;ENST00000395095;ENST00000313639	T;T;T	0.07444	3.19;3.19;3.19	4.39	4.39	0.52855	.	0.110472	0.64402	D	0.000009	T	0.04048	0.0113	N	0.11106	0.095	0.33977	D	0.647459	B;P;B	0.41159	0.002;0.74;0.17	B;B;B	0.32724	0.002;0.151;0.025	T	0.40040	-0.9584	10	0.10377	T	0.69	-32.7626	15.9331	0.79679	0.0:0.0:1.0:0.0	.	88;88;88	Q9UM11;Q9UM11-3;Q9UM11-2	FZR_HUMAN;.;.	S	88	ENSP00000410369:G88S;ENSP00000378529:G88S;ENSP00000321800:G88S	ENSP00000321800:G88S	G	+	1	0	FZR1	3477259	1.000000	0.71417	0.926000	0.36857	0.567000	0.35839	7.769000	0.85360	2.157000	0.67596	0.561000	0.74099	GGC		0.677	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452869.2	NM_016263		6	19	0	0	0	0	6	19				
NCR1	9437	broad.mit.edu	37	19	55421380	55421380	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr19:55421380G>A	ENST00000291890.4	+	5	675	c.637G>A	c.(637-639)Gac>Aac	p.D213N	NCR1_ENST00000598576.1_Missense_Mutation_p.D201N|NCR1_ENST00000338835.5_Missense_Mutation_p.D213N|NCR1_ENST00000357397.5_Missense_Mutation_p.D106N|NCR1_ENST00000594765.1_Missense_Mutation_p.D213N|NCR1_ENST00000350790.5_Missense_Mutation_p.D118N|NCR1_ENST00000447255.1_Missense_Mutation_p.D213N	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	213					cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		TTTTCCAGGCGACATTGAGAA	0.438																																						uc002qib.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(637-639)GAC>AAC		natural cytotoxicity triggering receptor 1							178.0	180.0	179.0					19																	55421380		2203	4300	6503	SO:0001583	missense	9437				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity	g.chr19:55421380G>A	AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6731	protein-coding gene	gene with protein product		604530	"""lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"""	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.637G>A	19.37:g.55421380G>A	ENSP00000291890:p.Asp213Asn					NCR1_uc002qic.2_Missense_Mutation_p.D213N|NCR1_uc002qie.2_Missense_Mutation_p.D213N|NCR1_uc002qid.2_Missense_Mutation_p.D118N|NCR1_uc002qif.2_Missense_Mutation_p.D118N|NCR1_uc010esj.2_Missense_Mutation_p.D106N	p.D213N	NM_004829	NP_004820	O76036	NCTR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0449)	5	675	+			213			Extracellular (Potential).		B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Missense_Mutation	SNP	ENST00000291890.4	37	c.637G>A	CCDS12911.1	.	.	.	.	.	.	.	.	.	.	G	8.953	0.968608	0.18659	.	.	ENSG00000189430	ENST00000291890;ENST00000447255;ENST00000338835;ENST00000350790;ENST00000357397	T;T;T;T;T	0.00531	7.05;7.08;7.13;7.02;6.76	3.19	2.11	0.27256	.	3.502750	0.01069	N	0.004787	T	0.00695	0.0023	L	0.57536	1.79	0.09310	N	1	D;P;P;D;B;B	0.54601	0.964;0.878;0.776;0.967;0.128;0.041	P;B;B;B;B;B	0.45856	0.495;0.125;0.109;0.288;0.065;0.029	T	0.54840	-0.8233	10	0.17369	T	0.5	.	7.3682	0.26785	0.0:0.0:0.6871:0.3129	.	106;118;213;118;213;213	O76036-5;B0V3L4;B0V3L5;B0V3L2;O76036-6;O76036	.;.;.;.;.;NCTR1_HUMAN	N	213;213;213;118;106	ENSP00000291890:D213N;ENSP00000404434:D213N;ENSP00000339515:D213N;ENSP00000344358:D118N;ENSP00000349972:D106N	ENSP00000291890:D213N	D	+	1	0	NCR1	60113192	0.002000	0.14202	0.004000	0.12327	0.018000	0.09664	0.750000	0.26334	0.834000	0.34852	0.579000	0.79373	GAC		0.438	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465680.1			4	144	0	0	0	0	4	144				
ZNF324	25799	broad.mit.edu	37	19	58983227	58983227	+	Silent	SNP	G	G	A			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr19:58983227G>A	ENST00000536459.2	+	4	2077	c.1368G>A	c.(1366-1368)gtG>gtA	p.V456V	ZNF324_ENST00000535298.1_Silent_p.V233V|ZNF446_ENST00000596341.1_5'Flank|ZNF324_ENST00000196482.3_Silent_p.V456V			O75467	Z324A_HUMAN	zinc finger protein 324	456					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TCCGCTGCGTGGACTGTGGCA	0.692																																						uc002qsw.1		NA																	0					0						c.(1366-1368)GTG>GTA		zinc finger protein 324							40.0	41.0	41.0					19																	58983227		2201	4298	6499	SO:0001819	synonymous_variant	25799				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58983227G>A	AF060503	CCDS12981.1	19q13.43	2013-01-08				ENSG00000083812		"""Zinc fingers, C2H2-type"", ""-"""	14096	protein-coding gene	gene with protein product							Standard	NM_014347		Approved	ZF5128, ZNF324A	uc002qsw.2	O75467		ENST00000536459.2:c.1368G>A	19.37:g.58983227G>A						ZNF324_uc002qsx.1_Silent_p.V233V	p.V456V	NM_014347	NP_055162	O75467	Z324A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	4	1462	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	456			C2H2-type 8.		B3KRX1	Silent	SNP	ENST00000536459.2	37	c.1368G>A	CCDS12981.1																																																																																				0.692	ZNF324-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467044.1	NM_014347		21	66	0	0	0	0	21	66				
SLC30A3	7781	broad.mit.edu	37	2	27480853	27480853	+	Silent	SNP	G	G	T			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr2:27480853G>T	ENST00000233535.4	-	4	850	c.498C>A	c.(496-498)gtC>gtA	p.V166V	SLC30A3_ENST00000447008.2_Silent_p.V161V	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	166					positive regulation of transport (GO:0051050)|regulation of sequestering of zinc ion (GO:0061088)|transmembrane transport (GO:0055085)|transport (GO:0006810)|zinc ion transmembrane transport (GO:0071577)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	zinc transporting ATPase activity (GO:0015633)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCAGCAGGCGGACGAAGGCCA	0.627																																						uc002rjk.2		NA																	0					0						c.(496-498)GTC>GTA		solute carrier family 30 (zinc transporter),							60.0	65.0	63.0					2																	27480853		2203	4300	6503	SO:0001819	synonymous_variant	7781				regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity	g.chr2:27480853G>T	U76010	CCDS1743.1	2p23.3	2013-05-22			ENSG00000115194	ENSG00000115194		"""Solute carriers"""	11014	protein-coding gene	gene with protein product		602878		ZNT3		8962159	Standard	NM_003459		Approved		uc002rjj.3	Q99726	OTTHUMG00000128409	ENST00000233535.4:c.498C>A	2.37:g.27480853G>T						SLC30A3_uc002rjj.2_5'UTR|SLC30A3_uc010ylh.1_Silent_p.V161V	p.V166V	NM_003459	NP_003450	Q99726	ZNT3_HUMAN			4	684	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		166			Helical; (Potential).		Q8TC03	Silent	SNP	ENST00000233535.4	37	c.498C>A	CCDS1743.1																																																																																				0.627	SLC30A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250189.2			13	42	1	0	1.62e-10	2.01e-10	13	42				
SLC30A6	55676	broad.mit.edu	37	2	32422829	32422829	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr2:32422829C>A	ENST00000282587.5	+	10	636	c.599C>A	c.(598-600)cCa>cAa	p.P200Q	SLC30A6_ENST00000406369.1_Missense_Mutation_p.P126Q|SLC30A6_ENST00000379343.2_Missense_Mutation_p.P240Q|SLC30A6_ENST00000538303.1_Missense_Mutation_p.P171Q|SLC30A6_ENST00000435660.1_Missense_Mutation_p.P200Q|SLC30A6_ENST00000357055.3_Missense_Mutation_p.P3Q	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	200					cellular protein metabolic process (GO:0044267)|Golgi to endosome transport (GO:0006895)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CGAATGAATCCATTTGTTTTG	0.338																																						uc002roe.1		NA																	0					0						c.(598-600)CCA>CAA		solute carrier family 30 (zinc transporter),							182.0	172.0	175.0					2																	32422829		2203	4300	6503	SO:0001583	missense	55676					Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity	g.chr2:32422829C>A	AK055663	CCDS1780.1, CCDS54341.1, CCDS54342.1, CCDS54343.1	2p22.3	2013-05-22			ENSG00000152683	ENSG00000152683		"""Solute carriers"""	19305	protein-coding gene	gene with protein product		611148					Standard	NM_017964		Approved	FLJ31101, ZNT6	uc002rof.2	Q6NXT4	OTTHUMG00000128456	ENST00000282587.5:c.599C>A	2.37:g.32422829C>A	ENSP00000282587:p.Pro200Gln					SLC30A6_uc002rof.1_Missense_Mutation_p.P240Q|SLC30A6_uc010ymw.1_Missense_Mutation_p.P171Q|SLC30A6_uc010ezr.1_Missense_Mutation_p.P200Q|SLC30A6_uc002rog.1_Missense_Mutation_p.P3Q|SLC30A6_uc010ezs.1_Missense_Mutation_p.P126Q|SLC30A6_uc002roh.1_Missense_Mutation_p.P3Q	p.P200Q	NM_017964	NP_060434	Q6NXT4	ZNT6_HUMAN			10	636	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		200			Cytoplasmic (Potential).		A5YM45|B7Z901|Q8N5C9|Q96NC3	Missense_Mutation	SNP	ENST00000282587.5	37	c.599C>A	CCDS1780.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.012689	0.93346	.	.	ENSG00000152683	ENST00000379343;ENST00000440718;ENST00000282587;ENST00000435660;ENST00000538303;ENST00000357055;ENST00000406369	T;T;T;T;T;T	0.62639	0.05;0.01;0.05;0.05;0.05;0.05	5.9	5.9	0.94986	.	0.105878	0.64402	D	0.000004	T	0.78817	0.4343	M	0.69823	2.125	0.80722	D	1	P;D;D;D	0.67145	0.955;0.991;0.984;0.996	P;P;P;D	0.70935	0.792;0.844;0.877;0.971	T	0.77219	-0.2668	10	0.46703	T	0.11	-13.3666	19.0482	0.93030	0.0:1.0:0.0:0.0	.	171;200;240;200	B7Z901;Q6NXT4-3;Q6NXT4-2;Q6NXT4	.;.;.;ZNT6_HUMAN	Q	240;171;200;200;171;3;126	ENSP00000368648:P240Q;ENSP00000393946:P171Q;ENSP00000282587:P200Q;ENSP00000399005:P200Q;ENSP00000440678:P171Q;ENSP00000384041:P126Q	ENSP00000282587:P200Q	P	+	2	0	SLC30A6	32276333	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.173000	0.77612	2.808000	0.96608	0.650000	0.86243	CCA		0.338	SLC30A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250254.2			23	77	1	0	1.38e-19	1.75e-19	23	77				
BCL11A	53335	broad.mit.edu	37	2	60688312	60688312	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr2:60688312C>T	ENST00000335712.6	-	4	1962	c.1735G>A	c.(1735-1737)Gag>Aag	p.E579K	BCL11A_ENST00000537768.1_Missense_Mutation_p.E248K|BCL11A_ENST00000538214.1_Missense_Mutation_p.E545K|BCL11A_ENST00000358510.4_Missense_Mutation_p.E545K|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000356842.4_Missense_Mutation_p.E579K|BCL11A_ENST00000477659.1_5'UTR	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	579					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CTGTGGCCCTCGGCCTCGGCC	0.667			T	IGH@	B-CLL																																	uc002sae.1		NA		Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13						c.(1735-1737)GAG>AAG		B-cell CLL/lymphoma 11A isoform 1							22.0	24.0	23.0					2																	60688312		2191	4275	6466	SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60688312C>T	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1735G>A	2.37:g.60688312C>T	ENSP00000338774:p.Glu579Lys					BCL11A_uc002sab.2_Missense_Mutation_p.E579K|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Missense_Mutation_p.E248K|BCL11A_uc010ypj.1_Missense_Mutation_p.E545K|BCL11A_uc002sad.1_Missense_Mutation_p.E427K|BCL11A_uc002saf.1_Missense_Mutation_p.E545K	p.E579K	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	1963	-			579					D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	c.1735G>A	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	C	9.327	1.059440	0.19987	.	.	ENSG00000119866	ENST00000356842;ENST00000378117;ENST00000538214;ENST00000537768;ENST00000335712;ENST00000358510	T;T;T;T;T	0.08193	3.12;3.42;3.29;3.41;3.36	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000002	T	0.05227	0.0139	N	0.08118	0	0.53688	D	0.999972	P;P;P;P;P	0.39131	0.661;0.628;0.611;0.611;0.659	B;B;B;B;B	0.27796	0.078;0.053;0.059;0.053;0.083	T	0.46275	-0.9203	10	0.52906	T	0.07	-3.0403	20.1195	0.97955	0.0:1.0:0.0:0.0	.	545;248;545;579;579	F5H2Y4;B4DT16;Q9H165-6;Q9H165;D9YZV9	.;.;.;BC11A_HUMAN;.	K	579;604;545;248;579;545	ENSP00000349300:E579K;ENSP00000438303:E545K;ENSP00000443712:E248K;ENSP00000338774:E579K;ENSP00000351307:E545K	ENSP00000338774:E579K	E	-	1	0	BCL11A	60541816	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.446000	0.44908	2.759000	0.94783	0.650000	0.86243	GAG		0.667	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		5	39	0	0	0	0	5	39				
GPAT2	150763	broad.mit.edu	37	2	96689170	96689170	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr2:96689170C>A	ENST00000434632.1	-	19	2374	c.1915G>T	c.(1915-1917)Gcc>Tcc	p.A639S	GPAT2_ENST00000359548.4_Missense_Mutation_p.A639S|GPAT2_ENST00000453542.1_Missense_Mutation_p.A568S|GPAT2_ENST00000377137.3_Intron|FAHD2CP_ENST00000607780.1_RNA			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	639					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerol-3-phosphate metabolic process (GO:0006072)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						GTGTCACAGGCTGGCCGGGAG	0.587																																						uc002svf.2		NA																	0					0						c.(1915-1917)GCC>TCC		glycerol-3-phosphate acyltransferase 2,							42.0	38.0	39.0					2																	96689170		1986	4161	6147	SO:0001583	missense	150763				glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr2:96689170C>A	BC042847	CCDS42714.1	2q11.2	2010-05-04			ENSG00000186281	ENSG00000186281			27168	protein-coding gene	gene with protein product	"""cancer/testis antigen 123"""					12477932	Standard	NM_207328		Approved	CT123	uc010yuf.1	Q6NUI2	OTTHUMG00000155208	ENST00000434632.1:c.1915G>T	2.37:g.96689170C>A	ENSP00000389395:p.Ala639Ser					GPAT2_uc002svd.2_Missense_Mutation_p.A458S|GPAT2_uc002sve.2_Missense_Mutation_p.A441S|GPAT2_uc002svg.2_Missense_Mutation_p.A518S|GPAT2_uc010yuh.1_Missense_Mutation_p.A568S|GPAT2_uc002svh.2_Intron	p.A639S	NM_207328	NP_997211	Q6NUI2	GPAT2_HUMAN			18	2138	-			639					Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	Missense_Mutation	SNP	ENST00000434632.1	37	c.1915G>T	CCDS42714.1	.	.	.	.	.	.	.	.	.	.	c	2.564	-0.301142	0.05495	.	.	ENSG00000186281	ENST00000359548;ENST00000434632;ENST00000453542	T;T;T	0.76839	-1.05;-1.05;-0.04	5.44	4.37	0.52481	.	0.456960	0.23999	N	0.042495	T	0.55986	0.1955	N	0.16166	0.38	0.80722	D	1	P;B;B;P	0.40970	0.607;0.113;0.084;0.734	B;B;B;B	0.39531	0.187;0.027;0.046;0.302	T	0.60510	-0.7249	10	0.02654	T	1	-23.8624	9.9824	0.41821	0.0:0.8925:0.0:0.1075	.	568;645;639;568	E9PE95;Q6NUI2-4;Q6NUI2;B4DNZ9	.;.;GPAT2_HUMAN;.	S	639;639;568	ENSP00000352547:A639S;ENSP00000389395:A639S;ENSP00000393770:A568S	ENSP00000352547:A639S	A	-	1	0	GPAT2	96052897	0.927000	0.31430	0.955000	0.39395	0.158000	0.22134	1.751000	0.38339	2.569000	0.86673	0.637000	0.83480	GCC		0.587	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338786.1	NM_207328		5	47	1	0	3.6e-05	4.11e-05	5	47				
NMS	129521	broad.mit.edu	37	2	101096979	101096979	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr2:101096979G>T	ENST00000376865.1	+	7	365	c.358G>T	c.(358-360)Gac>Tac	p.D120Y		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	120					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						TGCTGCAGTGGACTTCACCAA	0.557																																						uc002tan.1		NA																	0				ovary(1)	1						c.(358-360)GAC>TAC		neuromedin S precursor							116.0	108.0	111.0					2																	101096979		2203	4300	6503	SO:0001583	missense	129521				neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region		g.chr2:101096979G>T	AB164464	CCDS33259.1	2q11.2	2013-02-26			ENSG00000204640	ENSG00000204640		"""Endogenous ligands"""	32203	protein-coding gene	gene with protein product	"""prepro-NMS"""					15635449	Standard	NM_001011717		Approved		uc002tan.1	Q5H8A3	OTTHUMG00000153142	ENST00000376865.1:c.358G>T	2.37:g.101096979G>T	ENSP00000366061:p.Asp120Tyr						p.D120Y	NM_001011717	NP_001011717	Q5H8A3	NMS_HUMAN			7	365	+			120						Missense_Mutation	SNP	ENST00000376865.1	37	c.358G>T	CCDS33259.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.124092	0.37533	.	.	ENSG00000204640	ENST00000376865	T	0.31769	1.48	3.65	1.81	0.25067	.	0.527834	0.16944	N	0.193179	T	0.27313	0.0670	L	0.60455	1.87	0.09310	N	1	P	0.38195	0.622	B	0.33750	0.169	T	0.13980	-1.0489	10	0.87932	D	0	0.3472	10.0536	0.42230	0.0:0.3982:0.6018:0.0	.	120	Q5H8A3	NMS_HUMAN	Y	120	ENSP00000366061:D120Y	ENSP00000366061:D120Y	D	+	1	0	NMS	100463411	0.006000	0.16342	0.000000	0.03702	0.105000	0.19272	1.501000	0.35693	0.510000	0.28216	-0.172000	0.13284	GAC		0.557	NMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329737.1	NM_001011717		11	48	1	0	2.63e-14	3.32e-14	11	48				
NEB	4703	broad.mit.edu	37	2	152534283	152534283	+	Silent	SNP	G	G	A	rs377168325		TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr2:152534283G>A	ENST00000172853.10	-	34	3717	c.3570C>T	c.(3568-3570)aaC>aaT	p.N1190N	NEB_ENST00000409198.1_Silent_p.N1190N|NEB_ENST00000397345.3_Silent_p.N1190N|NEB_ENST00000603639.1_Silent_p.N1190N|NEB_ENST00000427231.2_Silent_p.N1190N|NEB_ENST00000604864.1_Silent_p.N1190N			P20929	NEBU_HUMAN	nebulin	1190					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCTTGTAGACGTTCTACAGCA	0.463																																						uc010fnx.2		NA																	0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(3568-3570)AAC>AAT		nebulin isoform 3		G	,,	0,3790		0,0,1895	176.0	165.0	169.0		3570,3570,3570	-3.4	0.9	2		169	2,8242		0,2,4120	no	coding-synonymous,coding-synonymous,coding-synonymous	NEB	NM_001164507.1,NM_001164508.1,NM_004543.4	,,	0,2,6015	AA,AG,GG		0.0243,0.0,0.0166	,,	1190/8526,1190/8526,1190/6670	152534283	2,12032	1895	4122	6017	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152534283G>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.3570C>T	2.37:g.152534283G>A							p.N1190N	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	34	3761	-			1190			Nebulin 29.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.3570C>T																																																																																					0.463	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		43	166	0	0	0	0	43	166				
PLA2R1	22925	broad.mit.edu	37	2	160825846	160825846	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr2:160825846T>C	ENST00000283243.7	-	19	2891	c.2685A>G	c.(2683-2685)atA>atG	p.I895M	PLA2R1_ENST00000392771.1_Missense_Mutation_p.I895M	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	895	C-type lectin 5. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						AGTTCTGGTATATCACTGGTG	0.393																																						uc002ube.1		NA																	0				skin(2)|ovary(1)	3						c.(2683-2685)ATA>ATG		phospholipase A2 receptor 1 isoform 1 precursor							120.0	114.0	116.0					2																	160825846		2203	4300	6503	SO:0001583	missense	22925				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160825846T>C	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.2685A>G	2.37:g.160825846T>C	ENSP00000283243:p.Ile895Met					PLA2R1_uc010zcp.1_Missense_Mutation_p.I895M|PLA2R1_uc002ubf.2_Missense_Mutation_p.I895M	p.I895M	NM_007366	NP_031392	Q13018	PLA2R_HUMAN			19	2892	-			895			Extracellular (Potential).|C-type lectin 5.		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	ENST00000283243.7	37	c.2685A>G	CCDS33309.1	.	.	.	.	.	.	.	.	.	.	T	16.20	3.056555	0.55325	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	T;T	0.18174	2.23;2.23	5.8	3.35	0.38373	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.217647	0.48286	D	0.000183	T	0.31888	0.0811	M	0.69248	2.105	0.29162	N	0.877716	D;D;D	0.76494	0.995;0.999;0.998	D;D;D	0.70487	0.95;0.969;0.961	T	0.12344	-1.0551	10	0.30854	T	0.27	.	6.1251	0.20174	0.2829:0.0:0.1473:0.5698	.	895;895;895	B7ZML4;Q13018-2;Q13018	.;.;PLA2R_HUMAN	M	895	ENSP00000283243:I895M;ENSP00000376524:I895M	ENSP00000283243:I895M	I	-	3	3	PLA2R1	160534092	1.000000	0.71417	0.999000	0.59377	0.905000	0.53344	0.362000	0.20284	0.418000	0.25898	0.528000	0.53228	ATA		0.393	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			8	41	0	0	0	0	8	41				
UGT1A10	54575	broad.mit.edu	37	2	234545236	234545236	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr2:234545236C>T	ENST00000344644.5	+	1	137	c.68C>T	c.(67-69)gCc>gTc	p.A23V	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Missense_Mutation_p.A23V	NM_019075.2	NP_061948.1	Q9HAW8	UD110_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A10	23				MARAGWTSPVPLCVCLLLTCGFA -> MAPRRVDQPRSFMC VSTADLWLC (in Ref. 1). {ECO:0000305}.	cellular glucuronidation (GO:0052695)|flavone metabolic process (GO:0051552)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	Acetaminophen(DB00316)|Etodolac(DB00749)|Losartan(DB00678)|Mycophenolate mofetil(DB00688)|Valproic Acid(DB00313)	TGTGGCTTTGCCGAGGCAGGG	0.592																																						uc002vur.2		NA																	0				ovary(2)|skin(1)	3						c.(67-69)GCC>GTC		UDP glycosyltransferase 1 family, polypeptide							102.0	95.0	97.0					2																	234545236		2203	4300	6503	SO:0001583	missense	54575				flavone metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding	g.chr2:234545236C>T	U39550	CCDS33403.1	2q37	2010-03-05	2005-07-20		ENSG00000242515	ENSG00000242515		"""UDP glucuronosyltransferases"""	12531	other	complex locus constituent		606435	"""UDP glycosyltransferase 1 family, polypeptide A10"""			9295054, 9325166	Standard	NM_019075		Approved	UGT1J		Q9HAW8	OTTHUMG00000059121	ENST00000344644.5:c.68C>T	2.37:g.234545236C>T	ENSP00000343838:p.Ala23Val					UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Missense_Mutation_p.A23V	p.A23V	NM_019075	NP_061948	Q9HAW8	UD110_HUMAN		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	114	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	23	MARAGWTSPVPLCVCLLLTCGFA -> MAPRRVDQPRSFMC VSTADLWLC (in Ref. 1).				O00474|Q6NT91|Q7Z6H8	Missense_Mutation	SNP	ENST00000344644.5	37	c.68C>T	CCDS33403.1	.	.	.	.	.	.	.	.	.	.	C	9.852	1.194005	0.22037	.	.	ENSG00000242515	ENST00000344644;ENST00000373445	T;T	0.59224	0.28;0.36	3.83	1.94	0.25998	.	.	.	.	.	T	0.40619	0.1124	L	0.31845	0.965	0.09310	N	1	B;B	0.17268	0.021;0.021	B;B	0.23852	0.02;0.049	T	0.28964	-1.0027	9	0.13470	T	0.59	.	5.5238	0.16947	0.0:0.6325:0.1827:0.1848	.	23;23	Q9HAW8;Q7Z6H8	UD110_HUMAN;.	V	23	ENSP00000343838:A23V;ENSP00000362544:A23V	ENSP00000343838:A23V	A	+	2	0	UGT1A10	234209975	0.000000	0.05858	0.001000	0.08648	0.071000	0.16799	0.183000	0.16919	0.376000	0.24707	0.537000	0.68136	GCC		0.592	UGT1A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130986.1	NM_019075		4	101	0	0	0	0	4	101				
MAVS	57506	broad.mit.edu	37	20	3845265	3845265	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr20:3845265T>C	ENST00000428216.2	+	6	1116	c.988T>C	c.(988-990)Tca>Cca	p.S330P	MAVS_ENST00000416600.2_Missense_Mutation_p.S189P|MAVS_ENST00000358134.6_3'UTR	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	330					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GCCAACTAGCTCAAAGCCCCC	0.552																																						uc002wjw.3		NA																	0					0						c.(988-990)TCA>CCA		virus-induced signaling adapter							129.0	115.0	120.0					20																	3845265		2203	4300	6503	SO:0001583	missense	57506				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity	g.chr20:3845265T>C	DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888			29233	protein-coding gene	gene with protein product	"""virus-induced signaling adaptor"", ""IFN-B promoter stimulator 1"", ""CARD adaptor inducing IFN-beta"""	609676				16125763, 16153868	Standard	NM_020746		Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.988T>C	20.37:g.3845265T>C	ENSP00000401980:p.Ser330Pro					MAVS_uc002wjx.3_Missense_Mutation_p.S189P|MAVS_uc002wjy.3_Missense_Mutation_p.S28P	p.S330P	NM_020746	NP_065797	Q7Z434	MAVS_HUMAN			6	1157	+			330			Cytoplasmic (Probable).		A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Missense_Mutation	SNP	ENST00000428216.2	37	c.988T>C	CCDS33437.1	.	.	.	.	.	.	.	.	.	.	T	15.29	2.790082	0.50102	.	.	ENSG00000088888	ENST00000416600;ENST00000428216	T;T	0.35048	1.33;2.34	4.29	-4.38	0.03622	.	1.277670	0.05583	N	0.573208	T	0.25938	0.0632	L	0.29908	0.895	0.09310	N	1	D	0.53745	0.962	P	0.49276	0.605	T	0.16512	-1.0400	10	0.33940	T	0.23	0.1823	0.305	0.00279	0.351:0.1851:0.1359:0.3279	.	330	Q7Z434	MAVS_HUMAN	P	189;330	ENSP00000413749:S189P;ENSP00000401980:S330P	ENSP00000413749:S189P	S	+	1	0	MAVS	3793265	0.000000	0.05858	0.015000	0.15790	0.160000	0.22226	-2.262000	0.01175	-0.733000	0.04850	0.402000	0.26972	TCA		0.552	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077784.3	NM_020746		4	113	0	0	0	0	4	113				
BMP2	650	broad.mit.edu	37	20	6758934	6758934	+	Missense_Mutation	SNP	G	G	T	rs201927971		TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr20:6758934G>T	ENST00000378827.4	+	3	1608	c.389G>T	c.(388-390)cGg>cTg	p.R130L		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	130					activation of MAPK activity (GO:0000187)|atrioventricular valve morphogenesis (GO:0003181)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|bone mineralization (GO:0030282)|bone mineralization involved in bone maturation (GO:0035630)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiocyte differentiation (GO:0035051)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to BMP stimulus (GO:0071773)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation (GO:0002062)|corticotropin hormone secreting cell differentiation (GO:0060128)|embryo development (GO:0009790)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion morphogenesis (GO:0003203)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|inner ear development (GO:0048839)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchyme development (GO:0060485)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of calcium-independent cell-cell adhesion (GO:0051042)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of steroid biosynthetic process (GO:0010894)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|pericardium development (GO:0060039)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of odontogenesis (GO:0042482)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of Wnt signaling pathway by BMP signaling pathway (GO:0060804)|protein destabilization (GO:0031648)|protein phosphorylation (GO:0006468)|proteoglycan metabolic process (GO:0006029)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	BMP receptor binding (GO:0070700)|phosphatase activator activity (GO:0019211)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)|retinol dehydrogenase activity (GO:0004745)|SMAD binding (GO:0046332)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13						AAAACAACCCGGAGATTCTTC	0.393																																						uc002wmu.1		NA																	0				ovary(1)|breast(1)	2						c.(388-390)CGG>CTG		bone morphogenetic protein 2 preproprotein	Simvastatin(DB00641)						45.0	49.0	48.0					20																	6758934		2203	4300	6503	SO:0001583	missense	650				BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding	g.chr20:6758934G>T		CCDS13099.1	20p12	2014-01-30			ENSG00000125845	ENSG00000125845		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1069	protein-coding gene	gene with protein product		112261		BMP2A		2376592	Standard	NM_001200		Approved		uc002wmu.1	P12643	OTTHUMG00000031833	ENST00000378827.4:c.389G>T	20.37:g.6758934G>T	ENSP00000368104:p.Arg130Leu						p.R130L	NM_001200	NP_001191	P12643	BMP2_HUMAN			3	1174	+			130						Missense_Mutation	SNP	ENST00000378827.4	37	c.389G>T	CCDS13099.1	.	.	.	.	.	.	.	.	.	.	G	8.166	0.790523	0.16258	.	.	ENSG00000125845	ENST00000378827	T	0.64618	-0.11	5.86	5.86	0.93980	Transforming growth factor-beta, N-terminal (1);	0.053759	0.85682	D	0.000000	T	0.59878	0.2226	L	0.39245	1.2	0.51482	D	0.999924	P	0.52842	0.956	P	0.51385	0.668	T	0.51348	-0.8717	10	0.10902	T	0.67	.	13.7319	0.62792	0.0702:0.0:0.9298:0.0	.	130	P12643	BMP2_HUMAN	L	130	ENSP00000368104:R130L	ENSP00000368104:R130L	R	+	2	0	BMP2	6706934	1.000000	0.71417	0.997000	0.53966	0.958000	0.62258	5.031000	0.64134	2.937000	0.99478	0.650000	0.86243	CGG		0.393	BMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077918.3			5	41	1	0	1.02e-07	1.24e-07	5	41				
ADRBK2	157	broad.mit.edu	37	22	26114347	26114347	+	Splice_Site	SNP	G	G	A	rs199620908		TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr22:26114347G>A	ENST00000324198.6	+	19	1982	c.1790G>A	c.(1789-1791)cGg>cAg	p.R597Q		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	597	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				receptor internalization (GO:0031623)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)		ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	GGAGAGTCCCGGGTAAGTCTA	0.453													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19243	0.0		0.0	False		,,,				2504	0.0					uc003abx.3		NA																	0				lung(3)|ovary(2)|stomach(1)|central_nervous_system(1)	7						c.(1789-1791)CGG>CAG		beta-adrenergic receptor kinase 2	Adenosine triphosphate(DB00171)						99.0	98.0	98.0					22																	26114347		2203	4300	6503	SO:0001630	splice_region_variant	157						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity	g.chr22:26114347G>A	X69117	CCDS13832.1	22q11	2013-01-10			ENSG00000100077	ENSG00000100077		"""Pleckstrin homology (PH) domain containing"""	290	protein-coding gene	gene with protein product		109636				7695743	Standard	NM_005160		Approved	GRK3, BARK2	uc003abx.4	P35626	OTTHUMG00000150280	ENST00000324198.6:c.1791+1G>A	22.37:g.26114347G>A						ADRBK2_uc003aby.3_RNA	p.R597Q	NM_005160	NP_005151	P35626	ARBK2_HUMAN			19	1937	+			597			PH.		Q9UGW9	Missense_Mutation	SNP	ENST00000324198.6	37	c.1790G>A	CCDS13832.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	17.91	3.504636	0.64410	.	.	ENSG00000100077	ENST00000324198	T	0.75477	-0.94	5.3	5.3	0.74995	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.58538	0.2129	N	0.08118	0	0.80722	D	1	B	0.26708	0.157	B	0.21546	0.035	T	0.59075	-0.7522	10	0.52906	T	0.07	-22.0193	18.3039	0.90174	0.0:0.0:1.0:0.0	.	597	P35626	ARBK2_HUMAN	Q	597	ENSP00000317578:R597Q	ENSP00000317578:R597Q	R	+	2	0	ADRBK2	24444347	1.000000	0.71417	0.944000	0.38274	0.495000	0.33615	5.742000	0.68646	2.635000	0.89317	0.655000	0.94253	CGG		0.453	ADRBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317296.4	NM_005160	Missense_Mutation	13	72	0	0	0	0	13	72				
BSN	8927	broad.mit.edu	37	3	49688471	49688471	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr3:49688471G>A	ENST00000296452.4	+	4	2059	c.1945G>A	c.(1945-1947)Gtc>Atc	p.V649I		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	649					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CACCCCTGTCGTCAAGGCTGT	0.592																																						uc003cxe.3		NA																	0				ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(1945-1947)GTC>ATC		bassoon protein							44.0	50.0	48.0					3																	49688471		2203	4299	6502	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49688471G>A	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.1945G>A	3.37:g.49688471G>A	ENSP00000296452:p.Val649Ile						p.V649I	NM_003458	NP_003449	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	4	2059	+			649					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.1945G>A	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.329774	0.24167	.	.	ENSG00000164061	ENST00000296452	T	0.17528	2.27	5.05	-3.74	0.04385	.	0.865548	0.10353	N	0.684870	T	0.10937	0.0267	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.28073	-1.0055	10	0.37606	T	0.19	.	12.7622	0.57372	0.7361:0.0:0.2639:0.0	.	649	Q9UPA5	BSN_HUMAN	I	649	ENSP00000296452:V649I	ENSP00000296452:V649I	V	+	1	0	BSN	49663475	0.000000	0.05858	0.001000	0.08648	0.883000	0.51084	-0.152000	0.10159	-0.645000	0.05458	-0.880000	0.02959	GTC		0.592	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		9	55	0	0	0	0	9	55				
UGT2B27P	54569	broad.mit.edu	37	4	69885860	69885860	+	IGR	SNP	C	C	G			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr4:69885860C>G								UGT2A3 (68351 upstream) : UGT2B7 (31333 downstream)																							GGATAAACTTCGAGTTTAAGA	0.358																																						uc011cao.1		NA																	0				skin(3)|ovary(2)	5						c.(109-111)GAA>CAA		RecName: Full=UDP-glucuronosyltransferase 2B28;          Short=UDPGT 2B28;          EC=2.4.1.17; Flags: Precursor;							57.0	45.0	49.0					4																	69885860		692	1590	2282	SO:0001628	intergenic_variant	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69885860C>G																													4.37:g.69885860C>G						UGT2B10_uc011can.1_Missense_Mutation_p.E37Q	p.E37Q			P36537	UDB10_HUMAN			2	245	-			74						Missense_Mutation	SNP		37	c.109G>C																																																																																				0	0.358									22	55	0	0	0	0	22	55				
EMCN	51705	broad.mit.edu	37	4	101386581	101386581	+	Splice_Site	SNP	C	C	A			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr4:101386581C>A	ENST00000296420.4	-	4	553	c.375G>T	c.(373-375)aaG>aaT	p.K125N	EMCN_ENST00000305864.3_Splice_Site_p.K125N|EMCN_ENST00000502327.1_5'UTR|EMCN_ENST00000511970.1_Splice_Site_p.K125N	NM_001159694.1|NM_016242.3	NP_001153166.1|NP_057326.2	Q9ULC0	MUCEN_HUMAN	endomucin	125	Thr-rich.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		CATACTTACTCTTGGGTTTGG	0.373																																						uc003hvr.2		NA																	0					0						c.(373-375)AAG>AAT		endomucin isoform 1							165.0	141.0	149.0					4																	101386581		2203	4300	6503	SO:0001630	splice_region_variant	51705					extracellular region|integral to membrane|plasma membrane		g.chr4:101386581C>A	AF205940	CCDS3655.1, CCDS54782.1	4q22.1	2008-02-05			ENSG00000164035	ENSG00000164035		"""Mucins"""	16041	protein-coding gene	gene with protein product		608350				11418125, 11594763	Standard	NM_016242		Approved	MUC14	uc003hvr.3	Q9ULC0	OTTHUMG00000131051	ENST00000296420.4:c.376+1G>T	4.37:g.101386581C>A						EMCN_uc011cel.1_Missense_Mutation_p.K125N|EMCN_uc011cem.1_Missense_Mutation_p.K125N	p.K125N	NM_016242	NP_057326	Q9ULC0	MUCEN_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)	4	554	-			125			Thr-rich.|Extracellular (Potential).		A8K716|B4E347|Q8NEY5|Q8WWE7|Q9NRM8	Missense_Mutation	SNP	ENST00000296420.4	37	c.375G>T	CCDS3655.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.405893	0.42715	.	.	ENSG00000164035	ENST00000296420;ENST00000305864;ENST00000506300;ENST00000511970;ENST00000502569	.	.	.	3.82	1.16	0.20824	.	0.242984	0.21450	N	0.074353	T	0.38054	0.1026	L	0.27053	0.805	0.09310	N	1	D;D;D	0.65815	0.995;0.993;0.993	D;D;D	0.66497	0.944;0.929;0.929	T	0.11792	-1.0573	9	0.72032	D	0.01	-8.7717	5.8846	0.18874	0.0:0.6672:0.0:0.3328	.	125;125;125	Q9ULC0-2;B4E347;Q9ULC0	.;.;MUCEN_HUMAN	N	125;125;52;125;125	.	ENSP00000296420:K125N	K	-	3	2	EMCN	101605604	0.366000	0.25014	0.135000	0.22099	0.126000	0.20510	0.223000	0.17719	0.214000	0.20742	0.655000	0.94253	AAG		0.373	EMCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253699.2	NM_016242	Missense_Mutation	16	48	1	0	4.75e-09	5.85e-09	16	48				
TBCK	93627	broad.mit.edu	37	4	107170083	107170083	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr4:107170083T>C	ENST00000273980.5	-	9	1162	c.715A>G	c.(715-717)Ata>Gta	p.I239V	TBCK_ENST00000361687.4_Missense_Mutation_p.I176V|TBCK_ENST00000394708.2_Missense_Mutation_p.I239V|TBCK_ENST00000394706.3_Missense_Mutation_p.I200V|TBCK_ENST00000432496.2_Missense_Mutation_p.I239V					TBC1 domain containing kinase											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						CAAACCTTTATAATGTCCAAA	0.294																																						uc010ilv.2		NA																	0				large_intestine(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1)	5						c.(715-717)ATA>GTA		TBC domain-containing protein kinase-like							79.0	77.0	78.0					4																	107170083		2202	4298	6500	SO:0001583	missense	93627					intracellular	Rab GTPase activator activity	g.chr4:107170083T>C		CCDS3673.1, CCDS54788.1, CCDS54789.1	4q24	2014-09-17			ENSG00000145348	ENSG00000145348			28261	protein-coding gene	gene with protein product						12471243	Standard	XR_427553		Approved	MGC16169, HSPC302	uc010ilv.2	Q8TEA7	OTTHUMG00000131214	ENST00000273980.5:c.715A>G	4.37:g.107170083T>C	ENSP00000273980:p.Ile239Val					TBCK_uc003hyb.2_5'Flank|TBCK_uc003hye.2_Missense_Mutation_p.I200V|TBCK_uc003hyc.2_Missense_Mutation_p.I176V|TBCK_uc003hyd.2_Missense_Mutation_p.I67V|TBCK_uc003hyf.2_Missense_Mutation_p.I239V	p.I239V	NM_001163435	NP_001156907	Q8TEA7	TBCK_HUMAN			8	1080	-			239			Protein kinase.			Missense_Mutation	SNP	ENST00000273980.5	37	c.715A>G	CCDS54788.1	.	.	.	.	.	.	.	.	.	.	T	11.71	1.720590	0.30503	.	.	ENSG00000145348	ENST00000273980;ENST00000432496;ENST00000361687;ENST00000394706;ENST00000394708	T;T;T;T;T	0.08102	3.13;3.13;3.13;3.13;3.13	5.45	4.27	0.50696	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.083079	0.85682	N	0.000000	T	0.05593	0.0147	L	0.28344	0.845	0.45490	D	0.998451	B;B;B	0.11235	0.0;0.004;0.0	B;B;B	0.06405	0.002;0.002;0.002	T	0.38735	-0.9647	10	0.22109	T	0.4	.	6.5123	0.22228	0.1377:0.0735:0.0:0.7888	.	239;200;176	Q8TEA7;Q8TEA7-2;Q8TEA7-3	TBCK_HUMAN;.;.	V	239;239;176;200;239	ENSP00000273980:I239V;ENSP00000405847:I239V;ENSP00000355338:I176V;ENSP00000378196:I200V;ENSP00000378198:I239V	ENSP00000273980:I239V	I	-	1	0	TBCK	107389532	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.914000	0.48797	0.902000	0.36520	0.528000	0.53228	ATA		0.294	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253953.4	NM_033115		7	19	0	0	0	0	7	19				
CDH18	1016	broad.mit.edu	37	5	19721469	19721469	+	Silent	SNP	G	G	A			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr5:19721469G>A	ENST00000507958.1	-	7	1620	c.630C>T	c.(628-630)gtC>gtT	p.V210V	CDH18_ENST00000274170.4_Silent_p.V210V|CDH18_ENST00000506372.1_Silent_p.V210V|CDH18_ENST00000511273.1_Silent_p.V210V|CDH18_ENST00000382275.1_Silent_p.V210V|CDH18_ENST00000502796.1_Silent_p.V210V			Q13634	CAD18_HUMAN	cadherin 18, type 2	210	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TTTTAGGGTCGACGGAGAAGT	0.453																																						uc003jgc.2		NA																	0				ovary(5)|large_intestine(1)|skin(1)	7						c.(628-630)GTC>GTT		cadherin 18, type 2 preproprotein							167.0	147.0	154.0					5																	19721469		2203	4300	6503	SO:0001819	synonymous_variant	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19721469G>A	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.630C>T	5.37:g.19721469G>A						CDH18_uc003jgd.2_Silent_p.V210V|CDH18_uc011cnm.1_Silent_p.V210V	p.V210V	NM_004934	NP_004925	Q13634	CAD18_HUMAN			4	1007	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		210			Extracellular (Potential).|Cadherin 2.		A8K0I2|B4DHG6|Q8N5Z2	Silent	SNP	ENST00000507958.1	37	c.630C>T	CCDS3889.1																																																																																				0.453	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		22	70	0	0	0	0	22	70				
PDE4D	5144	broad.mit.edu	37	5	58270507	58270507	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr5:58270507C>T	ENST00000340635.6	-	15	2589	c.2414G>A	c.(2413-2415)cGt>cAt	p.R805H	PDE4D_ENST00000358923.6_Missense_Mutation_p.R503H|PDE4D_ENST00000507116.1_Missense_Mutation_p.R741H|PDE4D_ENST00000317118.8_Missense_Mutation_p.R514H|PDE4D_ENST00000405755.2_Missense_Mutation_p.R683H|PDE4D_ENST00000503258.1_Missense_Mutation_p.R675H|PDE4D_ENST00000502484.2_Missense_Mutation_p.R744H|PDE4D_ENST00000360047.5_Missense_Mutation_p.R669H|PDE4D_ENST00000546160.1_Missense_Mutation_p.R744H	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	805					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	GTCAGGAGAACGATCATCTAT	0.433																																						uc003jsa.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(2413-2415)CGT>CAT		phosphodiesterase 4D isoform 1	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)						178.0	175.0	176.0					5																	58270507		1934	4146	6080	SO:0001583	missense	5144				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr5:58270507C>T		CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"""Phosphodiesterases"""	8783	protein-coding gene	gene with protein product	"""phosphodiesterase E3 dunce homolog (Drosophila)"""	600129	"""phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"""	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.2414G>A	5.37:g.58270507C>T	ENSP00000345502:p.Arg805His					PDE4D_uc003jrx.2_Missense_Mutation_p.R669H|PDE4D_uc003jry.2_Missense_Mutation_p.R503H|PDE4D_uc003jrz.2_Missense_Mutation_p.R741H|PDE4D_uc003jsb.2_Missense_Mutation_p.R744H|PDE4D_uc003jrt.2_Missense_Mutation_p.R503H|PDE4D_uc003jru.2_Missense_Mutation_p.R581H|PDE4D_uc003jrv.2_Missense_Mutation_p.R675H|PDE4D_uc003jrw.2_Missense_Mutation_p.R683H|PDE4D_uc003jrs.2_Missense_Mutation_p.R514H	p.R805H	NM_001104631	NP_001098101	Q08499	PDE4D_HUMAN		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	15	2586	-		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)	805					O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	ENST00000340635.6	37	c.2414G>A	CCDS47213.1	.	.	.	.	.	.	.	.	.	.	C	5.381	0.255533	0.10185	.	.	ENSG00000113448	ENST00000340635;ENST00000356665;ENST00000360047;ENST00000507116;ENST00000358923;ENST00000317118;ENST00000503258;ENST00000405755;ENST00000502484;ENST00000546160	T;T;T;T;T;T;T;T;T	0.65549	-0.15;-0.14;-0.16;0.08;0.07;-0.14;-0.15;-0.14;-0.14	5.75	-10.8	0.00216	.	2.667850	0.01177	N	0.006983	T	0.36771	0.0979	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	T	0.22138	-1.0225	10	0.37606	T	0.19	.	10.0197	0.42035	0.0:0.5022:0.1967:0.3011	.	744;805;741;668;683;675;580;514	Q08499-11;Q08499;Q08499-6;Q08499-2;Q08499-9;Q08499-10;Q08499-4;Q08499-8	.;PDE4D_HUMAN;.;.;.;.;.;.	H	805;674;669;741;503;514;675;683;744;744	ENSP00000345502:R805H;ENSP00000353152:R669H;ENSP00000424852:R741H;ENSP00000351800:R503H;ENSP00000321739:R514H;ENSP00000425605:R675H;ENSP00000384806:R683H;ENSP00000423094:R744H;ENSP00000442734:R744H	ENSP00000321739:R514H	R	-	2	0	PDE4D	58306264	0.001000	0.12720	0.000000	0.03702	0.828000	0.46876	-0.160000	0.10041	-2.017000	0.00944	-0.345000	0.07892	CGT		0.433	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3			29	140	0	0	0	0	29	140				
CARTPT	9607	broad.mit.edu	37	5	71016344	71016344	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr5:71016344G>A	ENST00000296777.4	+	3	384	c.253G>A	c.(253-255)Ggt>Agt	p.G85S	CARTPT_ENST00000513096.1_3'UTR	NM_004291.3	NP_004282.1	Q16568	CART_HUMAN	CART prepropeptide	85					activation of MAPKK activity (GO:0000186)|adult feeding behavior (GO:0008343)|cell-cell signaling (GO:0007267)|cellular glucose homeostasis (GO:0001678)|cellular response to starvation (GO:0009267)|circadian regulation of gene expression (GO:0032922)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of appetite (GO:0032099)|negative regulation of bone resorption (GO:0045779)|negative regulation of glucagon secretion (GO:0070093)|negative regulation of osteoclast differentiation (GO:0045671)|neuropeptide signaling pathway (GO:0007218)|positive regulation of blood pressure (GO:0045777)|positive regulation of epinephrine secretion (GO:0032812)|positive regulation of transmission of nerve impulse (GO:0051971)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|somatostatin secretion (GO:0070253)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)|secretory granule (GO:0030141)				large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(167;0.00153)|Ovarian(174;0.0175)|Prostate(74;0.11)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;8.4e-56)	Amphetamine(DB00182)	GTGTGACGCCGGTGAGCAGTG	0.507																																						uc003kbv.1		NA																	0				ovary(1)	1						c.(253-255)GGT>AGT		cocaine- and amphetamine-regulated transcript	Amphetamine(DB00182)						155.0	126.0	136.0					5																	71016344		2203	4300	6503	SO:0001583	missense	9607				activation of MAPKK activity|adult feeding behavior|cellular glucose homeostasis|cellular response to starvation|circadian regulation of gene expression|negative regulation of appetite|negative regulation of bone resorption|negative regulation of osteoclast differentiation|neuropeptide signaling pathway|positive regulation of blood pressure|positive regulation of epinephrine secretion|positive regulation of transmission of nerve impulse|synaptic transmission	extracellular space		g.chr5:71016344G>A	U16826	CCDS4011.1	5q13.2	2008-02-05			ENSG00000164326	ENSG00000164326			24323	protein-coding gene	gene with protein product	"""cocaine and amphetamine regulated transcript"""	602606				9590691, 8647455	Standard	NM_004291		Approved	CART	uc003kbv.2	Q16568	OTTHUMG00000131261	ENST00000296777.4:c.253G>A	5.37:g.71016344G>A	ENSP00000296777:p.Gly85Ser						p.G85S	NM_004291	NP_004282	Q16568	CART_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;8.4e-56)	3	380	+		Lung NSC(167;0.00153)|Ovarian(174;0.0175)|Prostate(74;0.11)|Breast(144;0.198)	85					Q6FG92	Missense_Mutation	SNP	ENST00000296777.4	37	c.253G>A	CCDS4011.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.202820	0.79127	.	.	ENSG00000164326	ENST00000296777	T	0.74106	-0.81	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.83385	0.5243	L	0.52573	1.65	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83850	0.0262	10	0.54805	T	0.06	.	17.8761	0.88825	0.0:0.0:1.0:0.0	.	85	Q16568	CART_HUMAN	S	85	ENSP00000296777:G85S	ENSP00000296777:G85S	G	+	1	0	CARTPT	71052100	1.000000	0.71417	0.160000	0.22671	0.569000	0.35902	9.011000	0.93618	2.532000	0.85374	0.655000	0.94253	GGT		0.507	CARTPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254029.2	NM_004291		6	8	0	0	0	0	6	8				
PCDH12	51294	broad.mit.edu	37	5	141334957	141334957	+	Silent	SNP	C	C	T			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr5:141334957C>T	ENST00000231484.3	-	1	3670	c.2460G>A	c.(2458-2460)ccG>ccA	p.P820P	PCDH12_ENST00000512221.1_5'Flank|AC005740.6_ENST00000607378.1_RNA	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	820					calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTACAGGGTCGGGGTGAGGT	0.612																																						uc003llx.2		NA																	0				ovary(3)	3						c.(2458-2460)CCG>CCA		protocadherin 12 precursor							50.0	47.0	48.0					5																	141334957		2203	4300	6503	SO:0001819	synonymous_variant	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141334957C>T	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.2460G>A	5.37:g.141334957C>T							p.P820P	NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	3671	-		all_hematologic(541;0.0999)	820			Cytoplasmic (Potential).		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Silent	SNP	ENST00000231484.3	37	c.2460G>A	CCDS4269.1																																																																																				0.612	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		12	34	0	0	0	0	12	34				
PRICKLE4	29964	broad.mit.edu	37	6	41753268	41753268	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr6:41753268C>T	ENST00000394260.1	+	3	452	c.452C>T	c.(451-453)gCt>gTt	p.A151V	TOMM6_ENST00000398884.3_5'Flank|PRICKLE4_ENST00000359201.5_Missense_Mutation_p.A191V|PRICKLE4_ENST00000394263.1_Missense_Mutation_p.A191V|PRICKLE4_ENST00000458694.1_Missense_Mutation_p.A191V|PRICKLE4_ENST00000394259.1_Missense_Mutation_p.A151V|TOMM6_ENST00000398881.3_5'Flank			Q2TBC4	PRIC4_HUMAN	prickle homolog 4 (Drosophila)	151	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.					nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CGCTGCCCGGCTTGTGACCAG	0.602																																						uc011duf.1		NA																	0					0						c.(571-573)GCT>GTT		over-expressed breast tumor protein							24.0	26.0	25.0					6																	41753268		2202	4300	6502	SO:0001583	missense	29964					nucleus	zinc ion binding	g.chr6:41753268C>T	AF216754	CCDS34449.1	6p21.1	2010-08-05	2007-09-18	2007-09-18	ENSG00000124593	ENSG00000124593			16805	protein-coding gene	gene with protein product		611389	"""chromosome 6 open reading frame 49"""	C6orf49		15702247	Standard	NM_013397		Approved	OEBT, DKFZp761H221	uc011duf.1	Q2TBC4	OTTHUMG00000014685	ENST00000394260.1:c.452C>T	6.37:g.41753268C>T	ENSP00000377803:p.Ala151Val					PRICKLE4_uc003ord.2_RNA|TOMM6_uc003org.2_5'Flank|TOMM6_uc011dug.1_5'Flank	p.A191V	NM_013397	NP_037529	Q2TBC4	PRIC4_HUMAN	Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		6	820	+	Ovarian(28;0.0355)|Colorectal(47;0.121)		151			LIM zinc-binding 2.		A2A3M0|A6PVU1|B3KQ15|Q5T3D4|Q9NSV1	Missense_Mutation	SNP	ENST00000394260.1	37	c.572C>T		.	.	.	.	.	.	.	.	.	.	C	31	5.097400	0.94197	.	.	ENSG00000124593	ENST00000458694;ENST00000359201;ENST00000394263;ENST00000394259;ENST00000394260	D;D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25;-2.25	4.71	4.71	0.59529	.	0.000000	0.45867	D	0.000338	D	0.93507	0.7928	M	0.87269	2.87	0.54753	D	0.999987	D	0.89917	1.0	D	0.85130	0.997	D	0.94435	0.7653	10	0.87932	D	0	-9.7222	16.5913	0.84766	0.0:1.0:0.0:0.0	.	191	Q2TBC4-3	.	V	191;191;191;151;151	ENSP00000404911:A191V;ENSP00000352128:A191V;ENSP00000377806:A191V;ENSP00000377802:A151V;ENSP00000377803:A151V	ENSP00000335185:A191V	A	+	2	0	PRICKLE4	41861246	1.000000	0.71417	0.998000	0.56505	0.949000	0.60115	4.518000	0.60510	2.455000	0.83008	0.561000	0.74099	GCT		0.602	PRICKLE4-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000303948.1	NM_013397		4	28	0	0	0	0	4	28				
TBC1D32	221322	broad.mit.edu	37	6	121401926	121401926	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr6:121401926C>G	ENST00000398212.2	-	32	3814	c.3765G>C	c.(3763-3765)caG>caC	p.Q1255H	TBC1D32_ENST00000275159.6_Missense_Mutation_p.Q1296H|TBC1D32_ENST00000398197.2_5'UTR	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	1255					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										TCTATGTGCTCTGCAGTCTAA	0.378																																						uc003pyo.1		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(3763-3765)CAG>CAC		hypothetical protein LOC221322							113.0	104.0	107.0					6																	121401926		1884	4144	6028	SO:0001583	missense	221322				multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity	g.chr6:121401926C>G	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.3765G>C	6.37:g.121401926C>G	ENSP00000381270:p.Gln1255His						p.Q1255H	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN		GBM - Glioblastoma multiforme(226;0.00521)	32	3833	-			1255					Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	c.3765G>C	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.733016	0.30684	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.19250	2.16;2.16	5.55	-0.911	0.10507	.	0.542310	0.19409	N	0.114983	T	0.15132	0.0365	L	0.57536	1.79	0.19945	N	0.999942	D	0.56035	0.974	P	0.56514	0.8	T	0.06197	-1.0840	10	0.59425	D	0.04	.	6.167	0.20396	0.0:0.4929:0.1373:0.3698	.	1255	Q96NH3	BROMI_HUMAN	H	1296;1255	ENSP00000275159:Q1296H;ENSP00000381270:Q1255H	ENSP00000275159:Q1296H	Q	-	3	2	C6orf170	121443625	0.067000	0.21026	0.025000	0.17156	0.022000	0.10575	-0.210000	0.09345	-0.005000	0.14395	0.650000	0.86243	CAG		0.378	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730		6	41	0	0	0	0	6	41				
TIAM2	26230	broad.mit.edu	37	6	155450592	155450592	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr6:155450592G>A	ENST00000461783.3	+	6	1508	c.235G>A	c.(235-237)Ggt>Agt	p.G79S	TIAM2_ENST00000318981.5_Missense_Mutation_p.G79S|TIAM2_ENST00000367174.2_De_novo_Start_OutOfFrame|TIAM2_ENST00000360366.4_Missense_Mutation_p.G79S|TIAM2_ENST00000529824.2_Missense_Mutation_p.G79S|TIAM2_ENST00000456144.1_Missense_Mutation_p.G79S			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	79					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		ATCGAGACTCGGTGGCCCCAC	0.562																																						uc003qqb.2		NA																	0				ovary(3)|breast(1)	4						c.(235-237)GGT>AGT		T-cell lymphoma invasion and metastasis 2							71.0	65.0	67.0					6																	155450592		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155450592G>A		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.235G>A	6.37:g.155450592G>A	ENSP00000437188:p.Gly79Ser					TIAM2_uc003qqe.2_Missense_Mutation_p.G79S	p.G79S	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	6	1508	+		Ovarian(120;0.196)	79					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.235G>A	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	G	0.921	-0.716006	0.03206	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000538270;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000535583;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.04317	3.76;3.65;3.71;3.76;3.75;3.71	5.43	-1.55	0.08558	.	0.839030	0.11081	N	0.601869	T	0.00608	0.0020	N	0.08118	0	0.09310	N	0.999998	B	0.11235	0.004	B	0.06405	0.002	T	0.45862	-0.9232	10	0.10636	T	0.68	.	6.0042	0.19537	0.5863:0.1409:0.2728:0.0	.	79	Q8IVF5	TIAM2_HUMAN	S	79;325;79;79;79;79;79;79;79	ENSP00000437188:G79S;ENSP00000434901:G79S;ENSP00000407746:G79S;ENSP00000327315:G79S;ENSP00000353528:G79S;ENSP00000433348:G79S	ENSP00000327315:G79S	G	+	1	0	TIAM2	155492284	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.109000	0.15417	-0.045000	0.13468	0.561000	0.74099	GGT		0.562	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		8	33	0	0	0	0	8	33				
NOD1	10392	broad.mit.edu	37	7	30485828	30485828	+	Silent	SNP	G	G	A			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr7:30485828G>A	ENST00000222823.4	-	9	2907	c.2382C>T	c.(2380-2382)aaC>aaT	p.N794N		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	794					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						TTGTTATTTTGTTTTTTCCCA	0.522																																						uc003tav.2		NA																	0				ovary(1)|skin(1)	2						c.(2380-2382)AAC>AAT		nucleotide-binding oligomerization domain							269.0	223.0	239.0					7																	30485828		2203	4300	6503	SO:0001819	synonymous_variant	10392				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	g.chr7:30485828G>A	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"""Nucleotide-binding domain and leucine rich repeat containing"""	16390	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1"", ""NLR family, CARD domain containing 1"""	605980	"""caspase recruitment domain family, member 4"""	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.2382C>T	7.37:g.30485828G>A							p.N794N	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN			9	2905	-			794			LRR 5.		B4DTU3|Q549U4|Q8IWF5	Silent	SNP	ENST00000222823.4	37	c.2382C>T	CCDS5427.1																																																																																				0.522	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			13	147	0	0	0	0	13	147				
CCDC132	55610	broad.mit.edu	37	7	92987685	92987685	+	Silent	SNP	C	C	T			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr7:92987685C>T	ENST00000305866.5	+	28	2960	c.2832C>T	c.(2830-2832)atC>atT	p.I944I	CCDC132_ENST00000535481.1_Silent_p.I664I|CCDC132_ENST00000544910.1_Silent_p.I914I|CCDC132_ENST00000541136.1_3'UTR	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	944						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			GATCCCATATCAATAAGAAAG	0.383																																						uc003umo.2		NA																	0					0						c.(2830-2832)ATC>ATT		coiled-coil domain containing 132 isoform a							142.0	131.0	134.0					7																	92987685		1835	4092	5927	SO:0001819	synonymous_variant	55610							g.chr7:92987685C>T	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.2832C>T	7.37:g.92987685C>T						CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Silent_p.I914I|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Silent_p.I664I	p.I944I	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		28	2960	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		944					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Silent	SNP	ENST00000305866.5	37	c.2832C>T	CCDS43617.1																																																																																				0.383	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		7	53	0	0	0	0	7	53				
CNTNAP2	26047	broad.mit.edu	37	7	146829390	146829390	+	Silent	SNP	C	C	T	rs78543192	byFrequency	TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr7:146829390C>T	ENST00000361727.3	+	8	1653	c.1137C>T	c.(1135-1137)aaC>aaT	p.N379N		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	379					adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TCTTTTTCAACGCTACAAGTT	0.458										HNSCC(39;0.1)			T|||	30	0.00599042	0.0219	0.0014	5008	,	,		20040	0.0		0.0	False		,,,				2504	0.0					uc003weu.1		NA																	0				ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(1135-1137)AAC>AAT		cell recognition molecule Caspr2 precursor		T		66,4340	820.5+/-416.4	0,66,2137	126.0	121.0	122.0		1137	3.3	1.0	7	dbSNP_132	122	0,8600		0,0,4300	no	coding-synonymous	CNTNAP2	NM_014141.5		0,66,6437	TT,TC,CC		0.0,1.498,0.5075		379/1332	146829390	66,12940	2203	4300	6503	SO:0001819	synonymous_variant	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146829390C>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1137C>T	7.37:g.146829390C>T		HNSCC(39;0.1)					p.N379N	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		8	1653	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	379			Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	c.1137C>T	CCDS5889.1																																																																																				0.458	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			12	89	0	0	0	0	12	89				
CSMD1	64478	broad.mit.edu	37	8	2796121	2796121	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr8:2796121A>G	ENST00000520002.1	-	71	11239	c.10684T>C	c.(10684-10686)Tgt>Cgt	p.C3562R	CSMD1_ENST00000602557.1_Missense_Mutation_p.C3562R|CSMD1_ENST00000537824.1_Missense_Mutation_p.C3561R|CSMD1_ENST00000602723.1_Missense_Mutation_p.C3385R|CSMD1_ENST00000400186.3_Missense_Mutation_p.C3385R|CSMD1_ENST00000542608.1_Missense_Mutation_p.C3384R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3562						integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACCACTGTACAGACTGTGTTC	0.468																																						uc011kwk.1		NA																	0				breast(20)|large_intestine(5)	25						c.(10684-10686)TGT>CGT		CUB and Sushi multiple domains 1 precursor							200.0	187.0	191.0					8																	2796121		1984	4156	6140	SO:0001583	missense	64478					integral to membrane		g.chr8:2796121A>G			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.10684T>C	8.37:g.2796121A>G	ENSP00000430733:p.Cys3562Arg					CSMD1_uc011kwj.1_Missense_Mutation_p.C2876R|CSMD1_uc010lrg.2_Missense_Mutation_p.C1453R	p.C3562R	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	70	11074	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	3562			Cytoplasmic (Potential).		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.10684T>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.2|25.2	4.614825|4.614825	0.87359|0.87359	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	T;T;T;T|.	0.58940|.	0.3;0.93;0.95;0.3|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73729|0.73729	0.3624|0.3624	M|M	0.68317|0.68317	2.08|2.08	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;1.0;0.999|.	D;D;D|.	0.87578|.	0.996;0.993;0.998|.	T|T	0.72613|0.72613	-0.4240|-0.4240	10|5	0.87932|.	D|.	0|.	.|.	16.6288|16.6288	0.85011|0.85011	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	3562;3562;3384|.	E5RIG2;Q96PZ7;F5H2I8|.	.;CSMD1_HUMAN;.|.	R|P	3385;3562;3423;3561;3384|2963	ENSP00000383047:C3385R;ENSP00000430733:C3562R;ENSP00000441462:C3561R;ENSP00000446243:C3384R|.	ENSP00000320445:C3423R|.	C|L	-|-	1|2	0|0	CSMD1|CSMD1	2783528|2783528	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.979000|0.979000	0.70002|0.70002	8.730000|8.730000	0.91510|0.91510	2.326000|2.326000	0.78906|0.78906	0.533000|0.533000	0.62120|0.62120	TGT|CTG		0.468	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		5	19	0	0	0	0	5	19				
SGK223	157285	broad.mit.edu	37	8	8185602	8185602	+	Missense_Mutation	SNP	G	G	A	rs189604957	byFrequency	TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr8:8185602G>A	ENST00000520004.1	-	5	2954	c.2690C>T	c.(2689-2691)gCg>gTg	p.A897V	SGK223_ENST00000330777.4_Missense_Mutation_p.A897V			Q86YV5	SG223_HUMAN		899							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										TCTGTTGCCCGCCAGCCCTGC	0.662													G|||	3	0.000599042	0.0023	0.0	5008	,	,		13111	0.0		0.0	False		,,,				2504	0.0				GBM(34;731 755 10259 33573 33867)	uc003wsh.3		NA																	0					0						c.(2689-2691)GCG>GTG		pragmin		G	VAL/ALA	7,3707		0,7,1850	60.0	69.0	66.0		2690	-2.2	0.0	8		66	0,8168		0,0,4084	yes	missense	SGK223	NM_001080826.1	64	0,7,5934	AA,AG,GG		0.0,0.1885,0.0589	benign	897/1403	8185602	7,11875	1857	4084	5941	SO:0001583	missense	157285						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8185602G>A																												ENST00000520004.1:c.2690C>T	8.37:g.8185602G>A	ENSP00000428054:p.Ala897Val						p.A897V	NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN			4	2690	-			897					Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	37	c.2690C>T	CCDS43706.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	G	1.788	-0.480185	0.04383	0.001885	0.0	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.58210	0.35;0.35	3.99	-2.21	0.06973	.	0.934206	0.08808	N	0.890702	T	0.30603	0.0770	L	0.43152	1.355	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.24297	-1.0164	10	0.39692	T	0.17	.	5.035	0.14430	0.4728:0.154:0.3733:0.0	.	897	Q86YV5	SG223_HUMAN	V	897	ENSP00000330930:A897V;ENSP00000428054:A897V	ENSP00000330930:A897V	A	-	2	0	AC068353.1	8223012	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.172000	0.16704	-0.500000	0.06614	-1.008000	0.02478	GCG		0.662	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			31	139	0	0	0	0	31	139				
FAM150A	389658	broad.mit.edu	37	8	53452412	53452412	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr8:53452412T>C	ENST00000358543.4	-	3	554	c.304A>G	c.(304-306)Agg>Ggg	p.R102G	FAM150A_ENST00000523939.1_Missense_Mutation_p.R102G	NM_207413.3	NP_997296.1	Q6UXT8	F150A_HUMAN	family with sequence similarity 150, member A	102						extracellular region (GO:0005576)				lung(1)	1		Lung NSC(129;0.0919)|all_epithelial(80;0.125)|all_lung(136;0.17)				GAGCACTCCCTGGTATTGTAA	0.373																																						uc003xrd.2		NA																	0					0						c.(304-306)AGG>GGG		hypothetical protein LOC389658 precursor							102.0	101.0	101.0					8																	53452412		2203	4300	6503	SO:0001583	missense	389658					extracellular region		g.chr8:53452412T>C		CCDS6150.1	8q11.23	2007-12-18			ENSG00000196711	ENSG00000196711			33775	protein-coding gene	gene with protein product							Standard	NM_207413		Approved	UNQ9433	uc003xrd.3	Q6UXT8	OTTHUMG00000164256	ENST00000358543.4:c.304A>G	8.37:g.53452412T>C	ENSP00000351345:p.Arg102Gly					FAM150A_uc011ldt.1_Missense_Mutation_p.R102G	p.R102G	NM_207413	NP_997296	Q6UXT8	F150A_HUMAN			3	509	-		Lung NSC(129;0.0919)|all_epithelial(80;0.125)|all_lung(136;0.17)	102					B7ZMG9	Missense_Mutation	SNP	ENST00000358543.4	37	c.304A>G	CCDS6150.1	.	.	.	.	.	.	.	.	.	.	T	17.47	3.396535	0.62177	.	.	ENSG00000196711	ENST00000358543;ENST00000523939	.	.	.	5.46	4.29	0.51040	.	0.000000	0.85682	D	0.000000	T	0.70815	0.3267	M	0.64404	1.975	0.36540	D	0.871262	D;D	0.89917	1.0;0.993	D;D	0.74348	0.983;0.91	T	0.77107	-0.2710	9	0.87932	D	0	.	11.2223	0.48862	0.0:0.0:0.2892:0.7108	.	102;102	B7ZMG9;Q6UXT8	.;F150A_HUMAN	G	102	.	ENSP00000351345:R102G	R	-	1	2	FAM150A	53614965	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	1.880000	0.39628	0.874000	0.35823	0.460000	0.39030	AGG		0.373	FAM150A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377959.1	NM_207413		3	51	0	0	0	0	3	51				
PLEC	5339	broad.mit.edu	37	8	144997709	144997709	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr8:144997709G>C	ENST00000322810.4	-	31	6968	c.6799C>G	c.(6799-6801)Cag>Gag	p.Q2267E	PLEC_ENST00000357649.2_Missense_Mutation_p.Q2134E|PLEC_ENST00000354589.3_Missense_Mutation_p.Q2130E|PLEC_ENST00000354958.2_Missense_Mutation_p.Q2108E|PLEC_ENST00000345136.3_Missense_Mutation_p.Q2130E|PLEC_ENST00000436759.2_Missense_Mutation_p.Q2157E|PLEC_ENST00000527096.1_Missense_Mutation_p.Q2153E|PLEC_ENST00000356346.3_Missense_Mutation_p.Q2116E|PLEC_ENST00000398774.2_Missense_Mutation_p.Q2098E	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2267	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCCTGTGCCTGAGCCCGGGCC	0.746																																						uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(6799-6801)CAG>GAG		plectin isoform 1							8.0	10.0	10.0					8																	144997709		1941	4030	5971	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144997709G>C	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.6799C>G	8.37:g.144997709G>C	ENSP00000323856:p.Gln2267Glu					PLEC_uc003zab.1_Missense_Mutation_p.Q2130E|PLEC_uc003zac.1_Missense_Mutation_p.Q2134E|PLEC_uc003zad.2_Missense_Mutation_p.Q2130E|PLEC_uc003zae.1_Missense_Mutation_p.Q2098E|PLEC_uc003zag.1_Missense_Mutation_p.Q2108E|PLEC_uc003zah.2_Missense_Mutation_p.Q2116E|PLEC_uc003zaj.2_Missense_Mutation_p.Q2157E	p.Q2267E	NM_201380	NP_958782	Q15149	PLEC_HUMAN			31	6969	-			2267			Central fibrous rod domain.|Potential.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.6799C>G	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	1.923	-0.447854	0.04572	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.76968	-1.01;-1.02;-1.05;-1.06;-0.99;-1.01;-1.01;-0.99;-1.01	4.98	2.97	0.34412	.	0.288111	0.26875	U	0.022050	T	0.60869	0.2302	N	0.19112	0.55	0.26602	N	0.972991	B;B;B;B;B;B;B;B	0.17667	0.023;0.023;0.023;0.013;0.023;0.023;0.023;0.023	B;B;B;B;B;B;B;B	0.15484	0.013;0.013;0.013;0.006;0.013;0.013;0.013;0.013	T	0.49447	-0.8939	10	0.27785	T	0.31	.	10.0251	0.42066	0.0:0.2769:0.5807:0.1424	.	2157;2116;2108;2267;2098;2130;2134;2130	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	E	2130;2134;2130;2098;2267;2108;2116;2157;2153	ENSP00000344848:Q2130E;ENSP00000350277:Q2134E;ENSP00000346602:Q2130E;ENSP00000381756:Q2098E;ENSP00000323856:Q2267E;ENSP00000347044:Q2108E;ENSP00000348702:Q2116E;ENSP00000388180:Q2157E;ENSP00000434583:Q2153E	ENSP00000323856:Q2267E	Q	-	1	0	PLEC	145069697	0.106000	0.21978	0.589000	0.28718	0.072000	0.16883	0.614000	0.24314	1.028000	0.39785	0.448000	0.29417	CAG		0.746	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		3	25	0	0	0	0	3	25				
CDKN2A	1029	broad.mit.edu	37	9	21974684	21974684	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr9:21974684G>A	ENST00000304494.5	-	1	413	c.143C>T	c.(142-144)cCg>cTg	p.P48L	CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.P48L|CDKN2A_ENST00000579122.1_Missense_Mutation_p.P48L|CDKN2A_ENST00000446177.1_Missense_Mutation_p.P48L|CDKN2A_ENST00000498628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	48			P -> L (in CMM2 and a head and neck tumor; somatic mutation). {ECO:0000269|PubMed:10651484}.		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.?(25)|p.P48L(8)|p.P48R(1)|p.0(1)|p.V28_V51del(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)		CACCTGGATCGGCCTCCGACC	0.677		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1351	Whole gene deletion(1316)|Unknown(25)|Substitution - Missense(9)|Deletion - In frame(1)	p.0?(1112)|p.?(25)|p.P48L(9)|p.P48P(1)|p.P48R(1)|p.V28_V51del(1)	haematopoietic_and_lymphoid_tissue(278)|skin(173)|central_nervous_system(163)|lung(148)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(52)|oesophagus(50)|upper_aerodigestive_tract(49)|ovary(35)|kidney(31)|breast(30)|pancreas(29)|thyroid(14)|biliary_tract(14)|NS(12)|stomach(12)|large_intestine(7)|autonomic_ganglia(7)|meninges(7)|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	GRCh37	CM970251	CDKN2A	M		c.(142-144)CCG>CTG		cyclin-dependent kinase inhibitor 2A isoform 1							76.0	90.0	85.0					9																	21974684		2203	4300	6503	SO:0001583	missense	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.chr9:21974684G>A	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.143C>T	9.37:g.21974684G>A	ENSP00000307101:p.Pro48Leu	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Missense_Mutation_p.P48L|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Intron	p.P48L	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)	1	355	-		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)	48		P -> L (in CMM2 and a head and neck tumor; somatic mutation).	ANK 2.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.143C>T	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355056	0.61293	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	D;D	0.94537	-3.45;-3.45	4.89	4.89	0.63831	Ankyrin repeat-containing domain (3);	.	.	.	.	D	0.95903	0.8666	L	0.58510	1.815	0.80722	D	1	D;D	0.89917	0.994;1.0	P;D	0.67900	0.574;0.954	D	0.95770	0.8808	9	0.87932	D	0	.	13.1018	0.59224	0.0:0.1617:0.8383:0.0	.	48;48	P42771;G3XAG3	CD2A1_HUMAN;.	L	48	ENSP00000307101:P48L;ENSP00000394932:P48L	ENSP00000307101:P48L	P	-	2	0	CDKN2A	21964684	0.979000	0.34478	0.971000	0.41717	0.119000	0.20118	4.091000	0.57700	2.681000	0.91329	0.655000	0.94253	CCG		0.677	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		53	141	0	0	0	0	53	141				
LINGO2	158038	broad.mit.edu	37	9	27949442	27949442	+	Missense_Mutation	SNP	G	G	T	rs199551773		TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr9:27949442G>T	ENST00000379992.2	-	6	1677	c.1228C>A	c.(1228-1230)Ccc>Acc	p.P410T	LINGO2_ENST00000308675.3_Missense_Mutation_p.P410T	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	410	Ig-like C2-type.					integral component of membrane (GO:0016021)		p.P410T(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CGGATTTTGGGTTTTTTGCAG	0.488																																						uc003zqu.1		NA																	2	Substitution - Missense(2)		prostate(2)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(1228-1230)CCC>ACC		leucine rich repeat and Ig domain containing 2							97.0	93.0	94.0					9																	27949442		2203	4300	6503	SO:0001583	missense	158038					integral to membrane		g.chr9:27949442G>T	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.1228C>A	9.37:g.27949442G>T	ENSP00000369328:p.Pro410Thr					LINGO2_uc010mjf.1_Missense_Mutation_p.P410T|LINGO2_uc003zqv.1_Missense_Mutation_p.P410T	p.P410T	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	2	1422	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	410			Ig-like C2-type.|Extracellular (Potential).		A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	ENST00000379992.2	37	c.1228C>A	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400240	0.62177	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	D;D	0.99789	-6.75;-6.75	6.16	6.16	0.99307	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.93550	3.43	0.80722	D	1	D	0.69078	0.997	D	0.69479	0.964	D	0.97341	0.9957	9	.	.	.	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	410	Q7L985	LIGO2_HUMAN	T	410	ENSP00000369328:P410T;ENSP00000310126:P410T	.	P	-	1	0	LINGO2	27939442	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.837000	0.99465	2.937000	0.99478	0.650000	0.86243	CCC		0.488	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		12	50	1	0	3.07e-06	3.58e-06	12	50				
PHF2	5253	broad.mit.edu	37	9	96418259	96418259	+	Silent	SNP	C	C	T			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr9:96418259C>T	ENST00000359246.4	+	8	1363	c.996C>T	c.(994-996)ttC>ttT	p.F332F	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	332	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		GCCTGGCCTTCGCGGGACATT	0.637																																						uc004aub.2		NA																	0				ovary(1)	1						c.(994-996)TTC>TTT		PHD finger protein 2							82.0	55.0	64.0					9																	96418259		2202	4300	6502	SO:0001819	synonymous_variant	5253				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:96418259C>T	AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.996C>T	9.37:g.96418259C>T						PHF2_uc011lug.1_Silent_p.F215F	p.F332F	NM_005392	NP_005383	O75151	PHF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)	8	1143	+		Myeloproliferative disorder(762;0.0255)	332			JmjC.		Q4VXG0|Q8N3K2|Q9Y6N4	Silent	SNP	ENST00000359246.4	37	c.996C>T	CCDS35069.1																																																																																				0.637	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	NM_005392		3	16	0	0	0	0	3	16				
SLC44A1	23446	broad.mit.edu	37	9	108097866	108097866	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr9:108097866T>C	ENST00000374720.3	+	4	539	c.292T>C	c.(292-294)Tgc>Cgc	p.C98R	SLC44A1_ENST00000374724.1_Missense_Mutation_p.C98R|SLC44A1_ENST00000607692.1_3'UTR|SLC44A1_ENST00000374723.1_Missense_Mutation_p.C98R	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	98					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	TTTGGATCCATGCAACCTGGA	0.403																																						uc004bcn.2		NA																	0				breast(3)|ovary(1)	4						c.(292-294)TGC>CGC		CDW92 antigen	Choline(DB00122)						167.0	153.0	158.0					9																	108097866		2203	4300	6503	SO:0001583	missense	23446					integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity	g.chr9:108097866T>C	AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"""CD molecules"", ""Solute carriers"""	18798	protein-coding gene	gene with protein product		606105	"""CDW92 antigen"""	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.292T>C	9.37:g.108097866T>C	ENSP00000363852:p.Cys98Arg					SLC44A1_uc010mtk.1_Missense_Mutation_p.C98R	p.C98R	NM_080546	NP_536856	Q8WWI5	CTL1_HUMAN			4	513	+			98			Mitochondrial intermembrane (Potential).		A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Missense_Mutation	SNP	ENST00000374720.3	37	c.292T>C	CCDS6763.1	.	.	.	.	.	.	.	.	.	.	T	18.01	3.528332	0.64860	.	.	ENSG00000070214	ENST00000374723;ENST00000374720;ENST00000374724	T;T;T	0.79845	-1.31;-1.31;-1.31	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.88247	0.6385	M	0.69823	2.125	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.80764	0.993;0.994	D	0.86094	0.1552	10	0.24483	T	0.36	-14.1051	16.1445	0.81555	0.0:0.0:0.0:1.0	.	98;98	Q8WWI5-3;Q8WWI5	.;CTL1_HUMAN	R	98	ENSP00000363855:C98R;ENSP00000363852:C98R;ENSP00000363856:C98R	ENSP00000363852:C98R	C	+	1	0	SLC44A1	107137687	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.057000	0.76669	2.223000	0.72356	0.477000	0.44152	TGC		0.403	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053500.1	NM_080546		9	81	0	0	0	0	9	81				
ZCCHC5	203430	broad.mit.edu	37	X	77913257	77913257	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chrX:77913257C>A	ENST00000321110.1	-	2	956	c.661G>T	c.(661-663)Gct>Tct	p.A221S		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	221							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						AACTCTGAAGCTGCTGATGTC	0.517																																						uc004edc.1		NA																	0				ovary(1)	1						c.(661-663)GCT>TCT		zinc finger, CCHC domain containing 5							34.0	33.0	33.0					X																	77913257		2203	4300	6503	SO:0001583	missense	203430						nucleic acid binding|zinc ion binding	g.chrX:77913257C>A	AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"""Zinc fingers, CCHC domain containing"""	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.661G>T	X.37:g.77913257C>A	ENSP00000316794:p.Ala221Ser						p.A221S	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN			2	957	-			221					B2RMZ0|Q5JQE9	Missense_Mutation	SNP	ENST00000321110.1	37	c.661G>T	CCDS14440.1	.	.	.	.	.	.	.	.	.	.	C	8.597	0.885865	0.17540	.	.	ENSG00000179300	ENST00000321110	T	0.19105	2.17	2.92	2.01	0.26516	.	.	.	.	.	T	0.08403	0.0209	N	0.08118	0	0.09310	N	1	P	0.40970	0.734	B	0.37198	0.243	T	0.18493	-1.0335	9	0.20046	T	0.44	.	4.7585	0.13095	0.2503:0.5081:0.2416:0.0	.	221	Q8N8U3	ZCHC5_HUMAN	S	221	ENSP00000316794:A221S	ENSP00000316794:A221S	A	-	1	0	ZCCHC5	77799913	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-0.548000	0.06048	0.587000	0.29643	0.513000	0.50165	GCT		0.517	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	NM_152694		5	26	1	0	0.000602214	0.000674121	5	26				
FMR1NB	158521	broad.mit.edu	37	X	147084786	147084786	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chrX:147084786T>A	ENST00000370467.3	+	2	417	c.343T>A	c.(343-345)Tct>Act	p.S115T		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	115						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					TCATGGCCAATCTCTGGAAGA	0.363																																						uc004fcm.2		NA																	0				ovary(1)	1						c.(343-345)TCT>ACT		fragile X mental retardation 1 neighbor							127.0	120.0	122.0					X																	147084786		2203	4300	6503	SO:0001583	missense	158521					integral to membrane		g.chrX:147084786T>A		CCDS14683.1	Xq28	2009-03-25			ENSG00000176988	ENSG00000176988			26372	protein-coding gene	gene with protein product	"""cancer/testis antigen 37"""					12601173	Standard	NM_152578		Approved	FLJ25736, NY-SAR-35, CT37	uc004fcm.3	Q8N0W7	OTTHUMG00000022608	ENST00000370467.3:c.343T>A	X.37:g.147084786T>A	ENSP00000359498:p.Ser115Thr						p.S115T	NM_152578	NP_689791	Q8N0W7	FMR1N_HUMAN			2	417	+	Acute lymphoblastic leukemia(192;6.56e-05)		115			Extracellular (Potential).		D3DWT3	Missense_Mutation	SNP	ENST00000370467.3	37	c.343T>A	CCDS14683.1	.	.	.	.	.	.	.	.	.	.	T	13.16	2.153049	0.38021	.	.	ENSG00000176988	ENST00000370467	T	0.52754	0.65	4.94	-9.88	0.00467	.	1.408990	0.04884	N	0.448228	T	0.20659	0.0497	N	0.14661	0.345	0.09310	N	1	B	0.32573	0.376	B	0.31686	0.134	T	0.17776	-1.0358	10	0.35671	T	0.21	-0.0361	1.0614	0.01601	0.3191:0.3041:0.2141:0.1627	.	115	Q8N0W7	FMR1N_HUMAN	T	115	ENSP00000359498:S115T	ENSP00000359498:S115T	S	+	1	0	FMR1NB	146892478	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.628000	0.05515	-2.579000	0.00463	-1.272000	0.01410	TCT		0.363	FMR1NB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058667.1	NM_152578		23	40	0	0	0	0	23	40				
FAM118B	79607	broad.mit.edu	37	11	126126642	126126642	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr11:126126642delA	ENST00000533050.1	+	7	1370	c.877delA	c.(877-879)atgfs	p.M293fs	FAM118B_ENST00000360194.4_Frame_Shift_Del_p.M293fs|FAM118B_ENST00000529731.1_Frame_Shift_Del_p.M217fs	NM_024556.3	NP_078832.1	Q9BPY3	F118B_HUMAN	family with sequence similarity 118, member B	293										breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)	13	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)		TCGAGAAAACATGCTGGACAA	0.453																																						uc001qdf.2		NA																	0					0						c.(877-879)ATGfs		hypothetical protein LOC79607							148.0	151.0	150.0					11																	126126642		2201	4299	6500	SO:0001589	frameshift_variant	79607							g.chr11:126126642delA	BC001340	CCDS8470.1	11q24.2	2014-03-13				ENSG00000197798			26110	protein-coding gene	gene with protein product						24569877	Standard	NM_024556		Approved	FLJ21103	uc001qdf.3	Q9BPY3		ENST00000533050.1:c.877delA	11.37:g.126126642delA	ENSP00000433343:p.Met293fs					FAM118B_uc009zca.2_Frame_Shift_Del_p.M297fs|FAM118B_uc001qdg.2_Frame_Shift_Del_p.M293fs	p.M293fs	NM_024556	NP_078832	Q9BPY3	F118B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)	7	1060	+	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	293					Q9H7B0	Frame_Shift_Del	DEL	ENST00000533050.1	37	c.877delA	CCDS8470.1																																																																																				0.453	FAM118B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386346.1	NM_024556		32	140	NA	NA	NA	NA	32	140	---	---	---	---
HTT	3064	broad.mit.edu	37	4	3156043	3156043	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7180-01A-11D-2012-08	TCGA-CV-7180-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4233a363-ba28-495c-8590-644199c33d64	06b27da1-e2ad-4177-ba32-e23374a18309	g.chr4:3156043delC	ENST00000355072.5	+	27	3667	c.3522delC	c.(3520-3522)aacfs	p.N1174fs		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1174					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)			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)		CTCTAACAAACCCCCCTTCTC	0.408																																						uc011bvq.1		NA																	0				skin(2)|ovary(1)|lung(1)	4						c.(3526-3528)AACfs		huntingtin							38.0	34.0	35.0					4																	3156043		1877	4131	6008	SO:0001589	frameshift_variant	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.chr4:3156043delC	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	ENST00000355072.5:c.3522delC	4.37:g.3156043delC	ENSP00000347184:p.Asn1174fs						p.N1176fs	NM_002111	NP_002102	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	28	3673	+		all_epithelial(65;0.18)	1174					Q9UQB7	Frame_Shift_Del	DEL	ENST00000355072.5	37	c.3528delC	CCDS43206.1																																																																																				0.408	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		5	9	NA	NA	NA	NA	5	9	---	---	---	---
