#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
NADK	65220	broad.mit.edu	37	1	1686106	1686106	+	Silent	SNP	C	C	T			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr1:1686106C>T	ENST00000341426.5	-	8	941	c.720G>A	c.(718-720)ctG>ctA	p.L240L	NADK_ENST00000492768.1_5'Flank|NADK_ENST00000378625.1_Silent_p.L385L|NADK_ENST00000344463.4_Silent_p.L385L|NADK_ENST00000342348.5_Silent_p.L208L|NADK_ENST00000341991.3_Silent_p.L240L	NM_023018.4	NP_075394.3	O95544	NADK_HUMAN	NAD kinase	240					ATP metabolic process (GO:0046034)|NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		CCCTGACCTTCAGCCGACTCC	0.647																																						uc009vkw.2		NA																	0					0						c.(718-720)CTG>CTA		NAD kinase							107.0	105.0	106.0					1																	1686106		2203	4300	6503	SO:0001819	synonymous_variant	65220				ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding	g.chr1:1686106C>T	BC001709	CCDS30565.1, CCDS55561.1, CCDS55562.1	1p36.33	2013-04-29			ENSG00000008130	ENSG00000008130	2.7.1.23		29831	protein-coding gene	gene with protein product		611616				11594753	Standard	NM_023018		Approved	FLJ13052	uc001aie.3	O95544	OTTHUMG00000000942	ENST00000341426.5:c.720G>A	1.37:g.1686106C>T						NADK_uc001aic.2_Silent_p.L240L|NADK_uc001aid.3_Silent_p.L240L|NADK_uc001aie.2_Silent_p.L385L|NADK_uc010nyv.1_Silent_p.L208L|NADK_uc009vkx.1_Silent_p.L118L	p.L240L	NM_023018	NP_075394	O95544	NADK_HUMAN		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)	8	841	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	240					A6NNN3|A8K296|B7Z434|F5GXR5|Q5QPS4|Q9H2P2|Q9H931	Silent	SNP	ENST00000341426.5	37	c.720G>A	CCDS30565.1																																																																																				0.647	NADK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002769.1	NM_023018		60	22	0	0	0	0	60	22				
SPEN	23013	broad.mit.edu	37	1	16258889	16258889	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr1:16258889A>T	ENST00000375759.3	+	11	6358	c.6154A>T	c.(6154-6156)Aaa>Taa	p.K2052*		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2052					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGGCACAGACAAAAACCCCCC	0.502																																						uc001axk.1		NA																	0				ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(6154-6156)AAA>TAA		spen homolog, transcriptional regulator							41.0	47.0	45.0					1																	16258889		2203	4300	6503	SO:0001587	stop_gained	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16258889A>T		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.6154A>T	1.37:g.16258889A>T	ENSP00000364912:p.Lys2052*					SPEN_uc010obp.1_Nonsense_Mutation_p.K2011*	p.K2052*	NM_015001	NP_055816	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	6358	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	2052					Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Nonsense_Mutation	SNP	ENST00000375759.3	37	c.6154A>T	CCDS164.1	.	.	.	.	.	.	.	.	.	.	A	43	10.288207	0.99376	.	.	ENSG00000065526	ENST00000375759	.	.	.	4.92	3.71	0.42584	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.8959	6.1618	0.20368	0.754:0.1636:0.0823:0.0	.	.	.	.	X	2052	.	ENSP00000364912:K2052X	K	+	1	0	SPEN	16131476	0.987000	0.35691	0.714000	0.30535	0.047000	0.14425	3.774000	0.55341	1.845000	0.53610	0.379000	0.24179	AAA		0.502	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		28	10	0	0	0	0	28	10				
NBPF1	55672	broad.mit.edu	37	1	16893786	16893786	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr1:16893786T>A	ENST00000430580.2	-	25	3614	c.2727A>T	c.(2725-2727)agA>agT	p.R909S	NBPF1_ENST00000432949.1_3'UTR|NBPF1_ENST00000420031.2_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	909	NBPF 5. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TTGAATAACATCTATCCAGTG	0.493																																						uc009vos.1		NA																	0					0						c.(2950-2952)AGA>AGT		hypothetical protein LOC55672							519.0	467.0	485.0					1																	16893786		2203	4298	6501	SO:0001583	missense	55672					cytoplasm		g.chr1:16893786T>A	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2727A>T	1.37:g.16893786T>A	ENSP00000474456:p.Arg909Ser					NBPF1_uc009vot.1_Missense_Mutation_p.R367S|NBPF1_uc001ayz.1_Missense_Mutation_p.R367S|NBPF1_uc010oce.1_Missense_Mutation_p.R638S	p.R984S	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	26	3840	-			984			NBPF 6.		Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.2952A>T																																																																																					0.493	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		66	657	0	0	0	0	66	657				
ZNF683	257101	broad.mit.edu	37	1	26691127	26691127	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr1:26691127T>C	ENST00000436292.1	-	4	1030	c.910A>G	c.(910-912)Aca>Gca	p.T304A	ZNF683_ENST00000349618.3_Missense_Mutation_p.T304A|ZNF683_ENST00000374204.1_Missense_Mutation_p.T304A|ZNF683_ENST00000403843.1_Missense_Mutation_p.T304A			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	304					natural killer cell differentiation (GO:0001779)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		GCGGTGCCTGTCTGGGAACTC	0.577																																						uc001bmg.1		NA																	0					0						c.(910-912)ACA>GCA		zinc finger protein 683							145.0	146.0	146.0					1																	26691127		2203	4300	6503	SO:0001583	missense	257101				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:26691127T>C	BC029505	CCDS279.2	1p36.11	2013-01-08			ENSG00000176083	ENSG00000176083		"""Zinc fingers, C2H2-type"""	28495	protein-coding gene	gene with protein product	"""hypothetical protein MGC33414"""					12477932	Standard	NM_173574		Approved	MGC33414	uc009vsj.1	Q8IZ20	OTTHUMG00000003521	ENST00000436292.1:c.910A>G	1.37:g.26691127T>C	ENSP00000388792:p.Thr304Ala					ZNF683_uc001bmh.1_Missense_Mutation_p.T304A|ZNF683_uc009vsj.1_Missense_Mutation_p.T304A	p.T304A	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)	4	1028	-		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	304					Q5T141|Q5T146|Q5T147|Q5T149|Q8NEN4	Missense_Mutation	SNP	ENST00000436292.1	37	c.910A>G		.	.	.	.	.	.	.	.	.	.	T	4.690	0.128332	0.08981	.	.	ENSG00000176083	ENST00000403843;ENST00000436292;ENST00000374204;ENST00000349618	T;T;T;T	0.08102	3.18;3.18;3.13;3.13	4.63	-1.39	0.08997	.	1.148540	0.06621	N	0.757361	T	0.02571	0.0078	N	0.02802	-0.49	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.45190	-0.9278	10	0.12430	T	0.62	0.3846	0.8275	0.01124	0.1614:0.3565:0.1583:0.3238	.	304;304	Q8IZ20-2;Q8IZ20	.;ZN683_HUMAN	A	304	ENSP00000384782:T304A;ENSP00000388792:T304A;ENSP00000363320:T304A;ENSP00000344095:T304A	ENSP00000344095:T304A	T	-	1	0	ZNF683	26563714	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.046000	0.14035	-0.106000	0.12110	0.459000	0.35465	ACA		0.577	ZNF683-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000009794.2	NM_173574		3	130	0	0	0	0	3	130				
MANEAL	149175	broad.mit.edu	37	1	38265848	38265848	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr1:38265848C>G	ENST00000373045.6	+	4	1728	c.1347C>G	c.(1345-1347)atC>atG	p.I449M	MANEAL_ENST00000329006.5_Missense_Mutation_p.I227M|RP11-109P14.9_ENST00000433474.1_RNA|MANEAL_ENST00000525897.1_Missense_Mutation_p.I255M|MANEAL_ENST00000397631.3_3'UTR	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like	449						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGCACTTCATCAAAGAGAAGG	0.582																																						uc001cby.2		NA																	0					0						c.(1345-1347)ATC>ATG		mannosidase, endo-alpha-like isoform 3							47.0	52.0	50.0					1																	38265848		2192	4288	6480	SO:0001583	missense	149175					Golgi membrane|integral to membrane	hydrolase activity	g.chr1:38265848C>G	AK055996	CCDS426.1, CCDS44110.1, CCDS44111.1	1p34.3	2008-02-05			ENSG00000185090	ENSG00000185090			26452	protein-coding gene	gene with protein product							Standard	NM_152496		Approved	FLJ31434	uc001cby.2	Q5VSG8	OTTHUMG00000004317	ENST00000373045.6:c.1347C>G	1.37:g.38265848C>G	ENSP00000362136:p.Ile449Met					MANEAL_uc001cbx.2_3'UTR|MANEAL_uc001cbz.2_Missense_Mutation_p.I227M	p.I449M	NM_001113482	NP_001106954	Q5VSG8	MANEL_HUMAN			4	1428	+	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	449			Lumenal (Potential).		Q6DD86|Q6P497|Q8N5P8|Q96G55|Q96N42	Missense_Mutation	SNP	ENST00000373045.6	37	c.1347C>G	CCDS44110.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.598952	0.28445	.	.	ENSG00000185090	ENST00000373045;ENST00000525897;ENST00000329006	.	.	.	5.62	3.38	0.38709	.	0.176776	0.64402	D	0.000015	T	0.22166	0.0534	N	0.03608	-0.345	0.35606	D	0.808275	B;B	0.14012	0.002;0.009	B;B	0.13407	0.009;0.004	T	0.11941	-1.0567	9	0.46703	T	0.11	-21.4022	7.117	0.25423	0.1544:0.693:0.0:0.1526	.	227;449	Q5VSG8-2;Q5VSG8	.;MANEL_HUMAN	M	449;255;227	.	ENSP00000328770:I227M	I	+	3	3	MANEAL	38038435	0.952000	0.32445	1.000000	0.80357	0.997000	0.91878	0.115000	0.15540	1.363000	0.46019	0.655000	0.94253	ATC		0.582	MANEAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012469.2	NM_152496		44	18	0	0	0	0	44	18				
MSH4	4438	broad.mit.edu	37	1	76276476	76276476	+	Missense_Mutation	SNP	T	T	C	rs572532242		TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr1:76276476T>C	ENST00000263187.3	+	4	787	c.683T>C	c.(682-684)aTc>aCc	p.I228T		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	228					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TTCACTCTGATCACAGAAAAT	0.274								Mismatch excision repair (MMR)					T|||	1	0.000199681	0.0	0.0	5008	,	,		13993	0.0		0.0	False		,,,				2504	0.001					uc001dhd.1		NA																	0				lung(3)|ovary(2)	5						c.(682-684)ATC>ACC	MMR	mutS homolog 4							71.0	72.0	72.0					1																	76276476		2203	4298	6501	SO:0001583	missense	4438				chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr1:76276476T>C	U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.683T>C	1.37:g.76276476T>C	ENSP00000263187:p.Ile228Thr						p.I228T	NM_002440	NP_002431	O15457	MSH4_HUMAN			4	724	+			228					Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	ENST00000263187.3	37	c.683T>C	CCDS670.1	.	.	.	.	.	.	.	.	.	.	T	18.52	3.641345	0.67244	.	.	ENSG00000057468	ENST00000263187	D	0.87809	-2.3	4.64	4.64	0.57946	DNA mismatch repair protein MutS, connector (2);	0.101006	0.64402	D	0.000005	D	0.91583	0.7341	M	0.86502	2.82	0.50632	D	0.99988	D	0.53619	0.961	P	0.57846	0.828	D	0.93082	0.6492	10	0.72032	D	0.01	-10.934	14.7795	0.69754	0.0:0.0:0.0:1.0	.	228	O15457	MSH4_HUMAN	T	228	ENSP00000263187:I228T	ENSP00000263187:I228T	I	+	2	0	MSH4	76049064	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	7.154000	0.77437	2.024000	0.59613	0.383000	0.25322	ATC		0.274	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440		27	11	0	0	0	0	27	11				
BCL10	8915	broad.mit.edu	37	1	85733454	85733454	+	Silent	SNP	G	G	A			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr1:85733454G>A	ENST00000370580.1	-	3	1295	c.558C>T	c.(556-558)atC>atT	p.I186I		NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN	B-cell CLL/lymphoma 10	186					adaptive immune response (GO:0002250)|B cell apoptotic process (GO:0001783)|cell death (GO:0008219)|cellular defense response (GO:0006968)|cellular response to mechanical stimulus (GO:0071260)|Fc-epsilon receptor signaling pathway (GO:0038095)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interleukin-6 biosynthetic process (GO:0042226)|lymphotoxin A biosynthetic process (GO:0042109)|negative regulation of mature B cell apoptotic process (GO:0002906)|neural tube closure (GO:0001843)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of mast cell cytokine production (GO:0032765)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|regulation of T cell receptor signaling pathway (GO:0050856)|response to food (GO:0032094)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell apoptotic process (GO:0070231)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor signaling pathway (GO:0002224)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|kinase binding (GO:0019900)|NF-kappaB binding (GO:0051059)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		TTGAAGAGAAGATGGTATTTT	0.458			T	IGH@	MALT																																NSCLC(34;993 1034 12176 32621 50182)	uc001dkz.2		NA		Dom	yes		1	1p22	8915	T	B-cell CLL/lymphoma 10			L	IGH@		MALT 		0				lung(2)	2						c.(556-558)ATC>ATT		B-cell CLL/lymphoma 10							103.0	108.0	106.0					1																	85733454		2203	4300	6503	SO:0001819	synonymous_variant	8915				apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway	CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding	g.chr1:85733454G>A	AJ006288	CCDS704.1	1p22	2008-07-18			ENSG00000142867	ENSG00000142867			989	protein-coding gene	gene with protein product	"""CARD-like apoptotic protein"", ""CARD-containing apoptotic signaling protein"", ""CARD containing molecule enhancing NF-kB"", ""caspase-recruiting domain-containing protein"", ""CARD-containing proapoptotic protein"""	603517				9989495	Standard	NM_003921		Approved	CARMEN, CIPER, mE10, c-E10, CLAP	uc021opd.1	O95999	OTTHUMG00000009965	ENST00000370580.1:c.558C>T	1.37:g.85733454G>A							p.I186I	NM_003921	NP_003912	O95999	BCL10_HUMAN		all cancers(265;0.0114)|Epithelial(280;0.0311)	4	1263	-			186					Q5VUF1	Silent	SNP	ENST00000370580.1	37	c.558C>T	CCDS704.1																																																																																				0.458	BCL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027612.1	NM_003921		19	10	0	0	0	0	19	10				
BRDT	676	broad.mit.edu	37	1	92446620	92446620	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr1:92446620C>A	ENST00000362005.3	+	11	2053	c.1635C>A	c.(1633-1635)agC>agA	p.S545R	BRDT_ENST00000399546.2_Missense_Mutation_p.S545R|BRDT_ENST00000394530.3_Missense_Mutation_p.S499R|BRDT_ENST00000402388.1_Missense_Mutation_p.S545R|BRDT_ENST00000370389.2_Missense_Mutation_p.S472R	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	545	NET. {ECO:0000255|PROSITE- ProRule:PRU00857}.				cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		CTTCTCTGAGCAATTCCAATC	0.368																																						uc001dok.3		NA																	0				stomach(2)|ovary(1)|lung(1)	4						c.(1633-1635)AGC>AGA		testis-specific bromodomain protein							72.0	74.0	74.0					1																	92446620		2203	4300	6503	SO:0001583	missense	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92446620C>A	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.1635C>A	1.37:g.92446620C>A	ENSP00000354568:p.Ser545Arg					BRDT_uc001dol.3_Missense_Mutation_p.S545R|BRDT_uc010osz.1_Missense_Mutation_p.S549R|BRDT_uc009wdf.2_Missense_Mutation_p.S472R|BRDT_uc010ota.1_Missense_Mutation_p.S499R|BRDT_uc010otb.1_Missense_Mutation_p.S499R|BRDT_uc001dom.3_Missense_Mutation_p.S545R	p.S545R	NM_207189	NP_997072	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	10	1984	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	545					A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	ENST00000362005.3	37	c.1635C>A	CCDS735.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.652531	0.00785	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000394530;ENST00000402388	T;T;T;T;T	0.08282	3.11;3.11;3.11;3.11;3.11	5.97	-5.54	0.02544	.	0.286841	0.30011	N	0.010631	T	0.00328	0.0010	N	0.00358	-1.6	0.09310	N	0.999996	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.26780	-1.0093	10	0.02654	T	1	-7.7119	5.2216	0.15371	0.4466:0.0912:0.3743:0.088	.	499;499;549;545	B7ZAX7;B7Z811;B7Z890;Q58F21	.;.;.;BRDT_HUMAN	R	545;472;545;499;545	ENSP00000354568:S545R;ENSP00000359416:S472R;ENSP00000387822:S545R;ENSP00000378038:S499R;ENSP00000384051:S545R	ENSP00000354568:S545R	S	+	3	2	BRDT	92219208	0.810000	0.29049	0.569000	0.28460	0.454000	0.32378	0.044000	0.13992	-0.815000	0.04346	-1.361000	0.01213	AGC		0.368	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		29	11	1	0	1.51e-07	5.59e-07	29	11				
SLC19A2	10560	broad.mit.edu	37	1	169446399	169446399	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr1:169446399C>A	ENST00000236137.5	-	2	1037	c.801G>T	c.(799-801)gaG>gaT	p.E267D	SLC19A2_ENST00000367804.4_Intron	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	267					folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|thiamine transport (GO:0015888)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid transporter activity (GO:0008517)|thiamine transmembrane transporter activity (GO:0015234)|thiamine uptake transmembrane transporter activity (GO:0015403)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)				Thiamine(DB00152)	TTACCGGTTCCTCCACGGGAG	0.478																																						uc001gge.3		NA																	0					0						c.(799-801)GAG>GAT		solute carrier family 19, member 2							88.0	94.0	92.0					1																	169446399		2202	4300	6502	SO:0001583	missense	10560				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	g.chr1:169446399C>A	AF135488	CCDS1280.1	1q23.3	2013-05-22			ENSG00000117479	ENSG00000117479		"""Solute carriers"""	10938	protein-coding gene	gene with protein product		603941		TRMA		9399900, 10391221	Standard	NM_006996		Approved	THTR1	uc001gge.4	O60779	OTTHUMG00000035452	ENST00000236137.5:c.801G>T	1.37:g.169446399C>A	ENSP00000236137:p.Glu267Asp					SLC19A2_uc001ggf.3_Intron	p.E267D	NM_006996	NP_008927	O60779	S19A2_HUMAN			2	1005	-	all_hematologic(923;0.208)		267			Cytoplasmic (Potential).		B2R9H0|B4E1X4|Q8WV87|Q9UBL7|Q9UKJ2|Q9UN31|Q9UN43	Missense_Mutation	SNP	ENST00000236137.5	37	c.801G>T	CCDS1280.1	.	.	.	.	.	.	.	.	.	.	C	5.123	0.208253	0.09757	.	.	ENSG00000117479	ENST00000236137	D	0.86030	-2.06	5.34	-1.73	0.08081	Major facilitator superfamily domain, general substrate transporter (1);	0.831641	0.11032	N	0.607051	T	0.42765	0.1217	N	0.08118	0	0.32812	D	0.501615	B	0.02656	0.0	B	0.08055	0.003	T	0.03863	-1.0997	9	0.13108	T	0.6	-0.9894	6.3392	0.21312	0.1124:0.5336:0.0:0.354	.	267	O60779	S19A2_HUMAN	D	267	ENSP00000236137:E267D	ENSP00000236137:E267D	E	-	3	2	SLC19A2	167713023	0.679000	0.27596	0.287000	0.24848	0.267000	0.26476	0.008000	0.13197	-0.033000	0.13736	-0.142000	0.14014	GAG		0.478	SLC19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086106.1	NM_006996		56	79	1	0	5.73e-24	2.24e-23	56	79				
F5	2153	broad.mit.edu	37	1	169511140	169511140	+	Missense_Mutation	SNP	C	C	T	rs386834226		TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr1:169511140C>T	ENST00000367797.3	-	13	3389	c.3188G>A	c.(3187-3189)aGa>aAa	p.R1063K	F5_ENST00000367796.3_Missense_Mutation_p.R1068K	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1063	B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	ATGCTTAAGTCTTCTTTCTGA	0.423																																						uc001ggg.1		NA																	0				ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(3187-3189)AGA>AAA		coagulation factor V precursor	Drotrecogin alfa(DB00055)						208.0	197.0	201.0					1																	169511140		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169511140C>T	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.3188G>A	1.37:g.169511140C>T	ENSP00000356771:p.Arg1063Lys						p.R1063K	NM_000130	NP_000121	P12259	FA5_HUMAN			13	3333	-	all_hematologic(923;0.208)		1063			B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.3188G>A	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	C	1.211	-0.629567	0.03610	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.20598	2.06;2.06	5.48	-3.79	0.04320	.	1.105370	0.06689	N	0.769406	T	0.04998	0.0134	M	0.65498	2.005	0.19775	N	0.999951	B	0.02656	0.0	B	0.08055	0.003	T	0.33624	-0.9861	9	0.05721	T	0.95	-4.3705	5.8557	0.18718	0.119:0.2263:0.5492:0.1054	.	1063	P12259	FA5_HUMAN	K	1063;1068	ENSP00000356771:R1063K;ENSP00000356770:R1068K	ENSP00000356770:R1068K	R	-	2	0	F5	167777764	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-2.618000	0.00880	-0.442000	0.07190	-1.537000	0.00914	AGA		0.423	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		66	130	0	0	0	0	66	130				
LAD1	3898	broad.mit.edu	37	1	201356297	201356297	+	Silent	SNP	G	G	A	rs200025654		TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr1:201356297G>A	ENST00000391967.2	-	3	493	c.192C>T	c.(190-192)agC>agT	p.S64S	LAD1_ENST00000367313.3_Silent_p.S78S	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	64						basement membrane (GO:0005604)	structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						CTTCTTCCACGCTCGGTAGTC	0.557													A|||	1	0.000199681	0.0	0.0	5008	,	,		17073	0.001		0.0	False		,,,				2504	0.0					uc001gwm.2		NA																	0					0						c.(190-192)AGC>AGT		ladinin 1							36.0	38.0	38.0					1																	201356297		2203	4300	6503	SO:0001819	synonymous_variant	3898					basement membrane	structural molecule activity	g.chr1:201356297G>A	U42408	CCDS1410.1	1q25.1-q32.3	2008-02-05			ENSG00000159166	ENSG00000159166			6472	protein-coding gene	gene with protein product		602314				8618013, 9119369	Standard	NM_005558		Approved		uc001gwm.3	O00515	OTTHUMG00000035737	ENST00000391967.2:c.192C>T	1.37:g.201356297G>A						LAD1_uc009wzu.1_Silent_p.S86S	p.S64S	NM_005558	NP_005549	O00515	LAD1_HUMAN			3	427	-			64					O95614|Q96GD8	Silent	SNP	ENST00000391967.2	37	c.192C>T	CCDS1410.1																																																																																				0.557	LAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086946.1	NM_005558		21	47	0	0	0	0	21	47				
GNPAT	8443	broad.mit.edu	37	1	231406686	231406686	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr1:231406686A>G	ENST00000366647.4	+	10	1631	c.1462A>G	c.(1462-1464)Att>Gtt	p.I488V	GNPAT_ENST00000366646.3_Missense_Mutation_p.I427V	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	488					cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				GCTGCTCAACATTTTTGTGCG	0.478																																						uc001hup.3		NA																	0				ovary(3)|breast(1)	4						c.(1462-1464)ATT>GTT		glyceronephosphate O-acyltransferase							172.0	154.0	160.0					1																	231406686		2203	4300	6503	SO:0001583	missense	8443				ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity	g.chr1:231406686A>G	AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024	ENST00000366647.4:c.1462A>G	1.37:g.231406686A>G	ENSP00000355607:p.Ile488Val					GNPAT_uc009xfp.2_Missense_Mutation_p.I427V	p.I488V	NM_014236	NP_055051	O15228	GNPAT_HUMAN			10	1668	+	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)	488					B4DNM9|Q5TBH7|Q9BWC2	Missense_Mutation	SNP	ENST00000366647.4	37	c.1462A>G	CCDS1592.1	.	.	.	.	.	.	.	.	.	.	A	0.302	-0.973206	0.02215	.	.	ENSG00000116906	ENST00000366647;ENST00000366646;ENST00000416000	T;T;T	0.62105	0.05;0.06;0.06	4.81	-6.27	0.02026	.	0.650639	0.15594	N	0.254276	T	0.35335	0.0928	N	0.08118	0	0.29101	N	0.881461	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.13737	-1.0498	10	0.16420	T	0.52	.	16.5024	0.84261	0.3124:0.0:0.6876:0.0	.	427;488	B4DNM9;O15228	.;GNPAT_HUMAN	V	488;427;478	ENSP00000355607:I488V;ENSP00000355606:I427V;ENSP00000411640:I478V	ENSP00000355606:I427V	I	+	1	0	GNPAT	229473309	0.020000	0.18652	0.687000	0.30102	0.438000	0.31896	-0.388000	0.07352	-1.404000	0.02050	-0.456000	0.05471	ATT		0.478	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092871.1			68	92	0	0	0	0	68	92				
ZNF695	57116	broad.mit.edu	37	1	247150864	247150864	+	Missense_Mutation	SNP	T	T	C	rs377597899		TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr1:247150864T>C	ENST00000339986.7	-	4	1100	c.953A>G	c.(952-954)cAt>cGt	p.H318R	ZNF695_ENST00000487338.2_Intron|ZNF695_ENST00000498046.2_Intron	NM_020394.4	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein 695	318					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CTCTCTACTATGAATTCTCTT	0.348																																						uc009xgu.2		NA																	0					0						c.(952-954)CAT>CGT		zinc finger protein SBZF3		T	,ARG/HIS	0,4212		0,0,2106	31.0	33.0	33.0		,953	-0.9	0.0	1		33	1,8511		0,1,4255	no	intron,missense	ZNF695	NM_001204221.1,NM_020394.4	,29	0,1,6361	CC,CT,TT		0.0117,0.0,0.0079	,probably-damaging	,318/516	247150864	1,12723	2106	4256	6362	SO:0001583	missense	57116				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr1:247150864T>C		CCDS44344.1, CCDS55694.1	1q44	2013-01-08			ENSG00000197472	ENSG00000197472		"""Zinc fingers, C2H2-type"", ""-"""	30954	protein-coding gene	gene with protein product						12477932	Standard	NM_020394		Approved	SBZF3	uc009xgu.3	Q8IW36	OTTHUMG00000040707	ENST00000339986.7:c.953A>G	1.37:g.247150864T>C	ENSP00000341236:p.His318Arg					ZNF695_uc001ica.2_Intron|ZNF695_uc001icb.1_Intron|ZNF695_uc009xgt.1_Intron|ZNF695_uc001ibx.2_Intron|ZNF695_uc001iby.2_Intron	p.H318R	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		4	1098	-	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	318			C2H2-type 6.		Q5T0N9|Q5T0P1|Q5T0P3|Q7Z2W8|Q7Z648	Missense_Mutation	SNP	ENST00000339986.7	37	c.953A>G	CCDS44344.1	.	.	.	.	.	.	.	.	.	.	T	16.46	3.129497	0.56721	0.0	1.17E-4	ENSG00000197472	ENST00000339986	T	0.67523	-0.27	0.642	-0.861	0.10676	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.59074	0.2167	M	0.80616	2.505	0.25490	N	0.987659	D	0.54397	0.966	B	0.38056	0.264	T	0.55347	-0.8155	9	0.72032	D	0.01	.	4.207	0.10493	0.0:0.2669:0.0:0.7331	.	318	Q8IW36	ZN695_HUMAN	R	318	ENSP00000341236:H318R	ENSP00000341236:H318R	H	-	2	0	ZNF695	245217487	1.000000	0.71417	0.040000	0.18447	0.806000	0.45545	5.380000	0.66202	-0.357000	0.08175	0.172000	0.16884	CAT		0.348	ZNF695-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097823.5	NM_020394		9	13	0	0	0	0	9	13				
MYO3A	53904	broad.mit.edu	37	10	26377179	26377179	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr10:26377179G>T	ENST00000265944.5	+	15	1573	c.1407G>T	c.(1405-1407)ttG>ttT	p.L469F	MYO3A_ENST00000543632.1_Missense_Mutation_p.L469F	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	469	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TGAACAATTTGGTAGAAGCCT	0.303																																						uc001isn.2		NA																	0				ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						c.(1405-1407)TTG>TTT		myosin IIIA							57.0	60.0	59.0					10																	26377179		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26377179G>T	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.1407G>T	10.37:g.26377179G>T	ENSP00000265944:p.Leu469Phe					MYO3A_uc009xko.1_Missense_Mutation_p.L469F|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Missense_Mutation_p.L469F	p.L469F	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			15	1767	+			469			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.1407G>T	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.406623	0.62399	.	.	ENSG00000095777	ENST00000265944;ENST00000543632	T;D	0.88431	-0.83;-2.38	5.64	3.77	0.43336	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.94042	0.8091	M	0.90425	3.115	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.996	D	0.93388	0.6749	10	0.72032	D	0.01	.	6.1847	0.20490	0.1507:0.0:0.6039:0.2455	.	469;469;469	F5H0U9;Q0VD65;Q8NEV4	.;.;MYO3A_HUMAN	F	469	ENSP00000265944:L469F;ENSP00000445909:L469F	ENSP00000265944:L469F	L	+	3	2	MYO3A	26417185	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.323000	0.33701	1.531000	0.49152	0.561000	0.74099	TTG		0.303	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		15	21	1	0	3.46e-05	0.000124777	15	21				
CCAR1	55749	broad.mit.edu	37	10	70514524	70514524	+	Silent	SNP	T	T	A			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr10:70514524T>A	ENST00000265872.6	+	12	1517	c.1398T>A	c.(1396-1398)gcT>gcA	p.A466A	CCAR1_ENST00000543719.1_Silent_p.A451A|CCAR1_ENST00000535016.1_Silent_p.A451A|SNORD98_ENST00000408255.1_RNA	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	466					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						AGTCATGTGCTCTTGCTGAGG	0.358																																						uc001joo.2		NA																	0				ovary(6)|large_intestine(1)	7						c.(1396-1398)GCT>GCA		cell-cycle and apoptosis regulatory protein 1							165.0	164.0	164.0					10																	70514524		2203	4300	6503	SO:0001819	synonymous_variant	55749				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding	g.chr10:70514524T>A	AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.1398T>A	10.37:g.70514524T>A						CCAR1_uc001jol.1_RNA|CCAR1_uc001jom.1_Silent_p.A271A|CCAR1_uc009xpx.1_Silent_p.A440A|CCAR1_uc001jon.1_Silent_p.A412A|CCAR1_uc010qiz.1_Silent_p.A451A|CCAR1_uc010qja.1_Silent_p.A451A|CCAR1_uc010qjb.1_RNA|SNORD98_uc001jop.1_5'Flank	p.A466A	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN			12	1517	+			466					A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Silent	SNP	ENST00000265872.6	37	c.1398T>A	CCDS7282.1																																																																																				0.358	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237		32	44	0	0	0	0	32	44				
DDX21	9188	broad.mit.edu	37	10	70728814	70728814	+	Silent	SNP	A	A	G			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr10:70728814A>G	ENST00000354185.4	+	7	1271	c.1173A>G	c.(1171-1173)aaA>aaG	p.K391K	RN7SL373P_ENST00000577512.1_RNA	NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	391	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|osteoblast differentiation (GO:0001649)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AATACATGAAATCTACATATG	0.363																																						uc001jov.1		NA																	0				ovary(2)|kidney(1)	3						c.(1171-1173)AAA>AAG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 21							112.0	112.0	112.0					10																	70728814		2203	4300	6503	SO:0001819	synonymous_variant	9188					nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr10:70728814A>G	U41387	CCDS31211.1, CCDS73144.1	10q21	2013-05-13	2012-02-23		ENSG00000165732	ENSG00000165732		"""DEAD-boxes"""	2744	protein-coding gene	gene with protein product		606357	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 21"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 21"""			8614622, 18180292	Standard	NM_004728		Approved	RH-II/GU, GURDB	uc001jov.2	Q9NR30	OTTHUMG00000018366	ENST00000354185.4:c.1173A>G	10.37:g.70728814A>G						DDX21_uc001jow.1_Silent_p.K323K	p.K391K	NM_004728	NP_004719	Q9NR30	DDX21_HUMAN			7	1263	+			391			Helicase ATP-binding.		B2RDL0|Q13436|Q5VX41|Q68D35	Silent	SNP	ENST00000354185.4	37	c.1173A>G	CCDS31211.1																																																																																				0.363	DDX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048374.1	NM_004728		34	48	0	0	0	0	34	48				
SH3PXD2A	9644	broad.mit.edu	37	10	105362339	105362339	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr10:105362339T>A	ENST00000369774.4	-	15	2912	c.2636A>T	c.(2635-2637)tAt>tTt	p.Y879F	SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.Y851F|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.Y714F|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.Y746F|SH3PXD2A_ENST00000315994.6_5'UTR			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	879	SH3 4. {ECO:0000255|PROSITE- ProRule:PRU00192}.				superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		AAACCTCACATACCACCACCC	0.612																																						uc001kxj.1		NA																	0					0						c.(2551-2553)TAT>TTT		SH3 multiple domains 1							52.0	53.0	52.0					10																	105362339		2203	4300	6503	SO:0001583	missense	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105362339T>A	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.2636A>T	10.37:g.105362339T>A	ENSP00000358789:p.Tyr879Phe					SH3PXD2A_uc010qqr.1_Intron|SH3PXD2A_uc010qqs.1_Missense_Mutation_p.Y686F|SH3PXD2A_uc010qqt.1_Missense_Mutation_p.Y728F|SH3PXD2A_uc009xxn.1_Missense_Mutation_p.Y686F|SH3PXD2A_uc010qqu.1_Missense_Mutation_p.Y794F	p.Y851F	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	14	2692	-		Colorectal(252;0.0815)|Breast(234;0.131)	879			SH3 4.		D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	ENST00000369774.4	37	c.2552A>T		.	.	.	.	.	.	.	.	.	.	T	8.410	0.843867	0.16963	.	.	ENSG00000107957	ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	4.59	3.37	0.38596	Src homology-3 domain (4);	0.122421	0.56097	D	0.000022	T	0.34745	0.0908	N	0.11255	0.115	0.41316	D	0.987146	D;B;B;D	0.76494	0.999;0.046;0.058;0.998	D;B;B;D	0.79108	0.992;0.04;0.055;0.987	T	0.31024	-0.9958	10	0.02654	T	1	-15.7508	9.0401	0.36311	0.2772:0.0:0.0:0.7228	.	879;728;724;851	Q5TCZ1;B7Z9L8;B7Z3B0;Q5TCZ1-3	SPD2A_HUMAN;.;.;.	F	879;851;686;794;746;714	ENSP00000358789:Y879F;ENSP00000348215:Y851F;ENSP00000443663:Y746F;ENSP00000441514:Y714F	ENSP00000318135:Y686F	Y	-	2	0	SH3PXD2A	105352329	0.999000	0.42202	1.000000	0.80357	0.770000	0.43624	3.171000	0.50824	1.721000	0.51461	0.459000	0.35465	TAT		0.612	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		29	34	0	0	0	0	29	34				
GRK5	2869	broad.mit.edu	37	10	121207759	121207759	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr10:121207759C>T	ENST00000392870.2	+	13	1720	c.1391C>T	c.(1390-1392)cCc>cTc	p.P464L	GRK5_ENST00000369108.3_Missense_Mutation_p.P359L	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	464	AGC-kinase C-terminal.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|phospholipid binding (GO:0005543)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		TTGGACCCTCCCTTCGTTCCA	0.627																																						uc001led.2		NA																	0				lung(2)|stomach(1)	3						c.(1390-1392)CCC>CTC		G protein-coupled receptor kinase 5							119.0	128.0	125.0					10																	121207759		2203	4300	6503	SO:0001583	missense	2869				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity	g.chr10:121207759C>T	L15388	CCDS7612.1	10q26.11	2013-09-19	2004-02-04	2004-02-06	ENSG00000198873	ENSG00000198873			4544	protein-coding gene	gene with protein product		600870		GPRK5		7685906	Standard	NM_005308		Approved		uc001led.3	P34947	OTTHUMG00000019149	ENST00000392870.2:c.1391C>T	10.37:g.121207759C>T	ENSP00000376609:p.Pro464Leu					GRK5_uc009xzh.2_Missense_Mutation_p.P329L	p.P464L	NM_005308	NP_005299	P34947	GRK5_HUMAN		all cancers(201;0.0227)	13	1624	+		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)	464			AGC-kinase C-terminal.		D3DRD0|Q5T059	Missense_Mutation	SNP	ENST00000392870.2	37	c.1391C>T	CCDS7612.1	.	.	.	.	.	.	.	.	.	.	c	17.86	3.492143	0.64074	.	.	ENSG00000198873	ENST00000392870;ENST00000457057;ENST00000369108	T;T	0.58210	0.35;0.35	4.4	4.4	0.53042	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.340067	0.24474	N	0.038202	T	0.68787	0.3039	M	0.90870	3.155	0.80722	D	1	B;P	0.52577	0.002;0.954	B;P	0.47626	0.001;0.552	T	0.80101	-0.1523	10	0.87932	D	0	1.16	17.1762	0.86842	0.0:1.0:0.0:0.0	.	464;464	B2R7K0;P34947	.;GRK5_HUMAN	L	464;207;359	ENSP00000376609:P464L;ENSP00000358104:P359L	ENSP00000358104:P359L	P	+	2	0	GRK5	121197749	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.616000	0.83018	2.257000	0.74773	0.655000	0.94253	CCC		0.627	GRK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050652.2	NM_005308		70	100	0	0	0	0	70	100				
BAG3	9531	broad.mit.edu	37	10	121411327	121411327	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr10:121411327C>T	ENST00000369085.3	+	1	446	c.140C>T	c.(139-141)aCt>aTt	p.T47I		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	47	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of apoptotic process (GO:0043066)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|Z disc (GO:0030018)				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		AGCCGCACCACTACGTGGAAC	0.726																																						uc001lem.2		NA																	0				ovary(2)	2						c.(139-141)ACT>ATT		BCL2-associated athanogene 3							21.0	19.0	20.0					10																	121411327		2190	4284	6474	SO:0001583	missense	9531				anti-apoptosis|apoptosis|protein folding	cytosol		g.chr10:121411327C>T	AF095193	CCDS7615.1	10q25.2-q26.2	2014-09-17			ENSG00000151929	ENSG00000151929			939	protein-coding gene	gene with protein product		603883				9873016, 18094623	Standard	XM_005270287		Approved		uc001lem.3	O95817	OTTHUMG00000019155	ENST00000369085.3:c.140C>T	10.37:g.121411327C>T	ENSP00000358081:p.Thr47Ile					BAG3_uc001lel.2_Missense_Mutation_p.T47I	p.T47I	NM_004281	NP_004272	O95817	BAG3_HUMAN		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)	1	446	+		Lung NSC(174;0.109)|all_lung(145;0.142)	47			WW 1.		A8K5L8|Q3B763|Q9NT20|Q9P120	Missense_Mutation	SNP	ENST00000369085.3	37	c.140C>T	CCDS7615.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964633	0.74131	.	.	ENSG00000151929	ENST00000369085	D	0.88975	-2.45	4.41	3.5	0.40072	WW/Rsp5/WWP (6);	0.000000	0.85682	D	0.000000	D	0.93184	0.7829	H	0.97051	3.93	0.80722	D	1	P;P	0.42078	0.77;0.77	B;B	0.44108	0.441;0.441	D	0.93724	0.7035	10	0.66056	D	0.02	-9.7853	11.9361	0.52874	0.0:0.9151:0.0:0.0849	.	47;47	O95817;Q53GY1	BAG3_HUMAN;.	I	47	ENSP00000358081:T47I	ENSP00000358081:T47I	T	+	2	0	BAG3	121401317	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.484000	0.73621	1.062000	0.40625	0.484000	0.47621	ACT		0.726	BAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050662.1	NM_004281		24	17	0	0	0	0	24	17				
CDHR5	53841	broad.mit.edu	37	11	621106	621106	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr11:621106C>T	ENST00000358353.3	-	8	1085	c.763G>A	c.(763-765)Ggg>Agg	p.G255R	CDHR5_ENST00000349570.7_Missense_Mutation_p.G255R|CDHR5_ENST00000397542.2_Missense_Mutation_p.G255R			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	255	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043, ECO:0000305}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GGGACAGCCCCGTGGTACTGA	0.652																																						uc001lqj.2		NA																	0					0						c.(763-765)GGG>AGG		mucin and cadherin-like isoform 1							50.0	45.0	47.0					11																	621106		2203	4300	6503	SO:0001583	missense	53841				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:621106C>T	AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"""Cadherins / Cadherin-related"""	7521	protein-coding gene	gene with protein product		606839	"""mucin and cadherin-like"", ""mucin-like protocadherin"""	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.763G>A	11.37:g.621106C>T	ENSP00000351118:p.Gly255Arg					CDHR5_uc001lqk.2_Missense_Mutation_p.G255R|CDHR5_uc009ycc.2_Missense_Mutation_p.G89R|CDHR5_uc009ycd.2_Missense_Mutation_p.G255R|CDHR5_uc001lql.2_Missense_Mutation_p.G255R|CDHR5_uc001lqm.2_Missense_Mutation_p.G89R|CDHR5_uc009yce.1_Missense_Mutation_p.G224R	p.G255R	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN			7	868	-			255			Cadherin 3.|Extracellular (Potential).		C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Missense_Mutation	SNP	ENST00000358353.3	37	c.763G>A	CCDS7707.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.178695	0.57692	.	.	ENSG00000099834	ENST00000397542;ENST00000358353;ENST00000326366;ENST00000349570	D;D;D	0.82619	-1.63;-1.63;-1.63	4.08	1.94	0.25998	Cadherin (2);Cadherin-like (1);	0.573129	0.13263	N	0.401104	D	0.88062	0.6336	M	0.73962	2.25	0.09310	N	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999	D;D;D;D;D	0.72338	0.912;0.977;0.977;0.959;0.935	T	0.75690	-0.3230	10	0.62326	D	0.03	-21.0753	5.4546	0.16584	0.0:0.6796:0.2034:0.117	.	255;255;248;255;255	Q58EZ6;Q9HBB8-4;B4DV98;Q9HBB8-2;Q9HBB8	.;.;.;.;CDHR5_HUMAN	R	255	ENSP00000380676:G255R;ENSP00000351118:G255R;ENSP00000345726:G255R	ENSP00000326527:G255R	G	-	1	0	CDHR5	611106	0.001000	0.12720	0.012000	0.15200	0.081000	0.17604	0.917000	0.28665	0.819000	0.34492	0.561000	0.74099	GGG		0.652	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924		24	29	0	0	0	0	24	29				
MUC5B	727897	broad.mit.edu	37	11	1261156	1261156	+	Silent	SNP	G	G	A			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr11:1261156G>A	ENST00000529681.1	+	28	3769	c.3711G>A	c.(3709-3711)gcG>gcA	p.A1237A	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.A1240A	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1237	Cys-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCCCCACAGCGGAGAACTGCC	0.657																																						uc009ycr.1		NA																	0					0						c.(5788-5790)GCG>GCA		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							24.0	25.0	25.0					11																	1261156		2006	4160	6166	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1261156G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.3711G>A	11.37:g.1261156G>A						MUC5B_uc001ltb.2_Silent_p.A1240A|MUC5B_uc001lta.2_Silent_p.A905A	p.A1930A	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	44	5916	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1237			Cys-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.5790G>A	CCDS44515.2																																																																																				0.657	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		6	20	0	0	0	0	6	20				
OR52A5	390054	broad.mit.edu	37	11	5153166	5153166	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr11:5153166G>A	ENST00000307388.1	-	1	706	c.707C>T	c.(706-708)gCa>gTa	p.A236V		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	236					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		CTTGAATCGTGCCTCCTTCTG	0.408																																						uc010qyx.1		NA																	0				skin(2)|lung(1)|central_nervous_system(1)	4						c.(706-708)GCA>GTA		olfactory receptor, family 52, subfamily A,							105.0	95.0	99.0					11																	5153166		2201	4298	6499	SO:0001583	missense	390054				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5153166G>A	BK004433	CCDS31373.1	11p15.4	2012-08-09			ENSG00000171944	ENSG00000171944		"""GPCR / Class A : Olfactory receptors"""	19580	protein-coding gene	gene with protein product							Standard	NM_001005160		Approved		uc010qyx.2	Q9H2C5	OTTHUMG00000066616	ENST00000307388.1:c.707C>T	11.37:g.5153166G>A	ENSP00000303469:p.Ala236Val						p.A236V	NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)	1	707	-		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)	236			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000307388.1	37	c.707C>T	CCDS31373.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.125468	0.37533	.	.	ENSG00000171944	ENST00000307388	T	0.00145	8.67	4.89	4.89	0.63831	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000204	T	0.00552	0.0018	M	0.93898	3.47	0.29679	N	0.841827	P	0.35944	0.529	P	0.48524	0.58	T	0.00668	-1.1618	10	0.66056	D	0.02	.	17.1761	0.86842	0.0:0.0:1.0:0.0	.	236	Q9H2C5	O52A5_HUMAN	V	236	ENSP00000303469:A236V	ENSP00000303469:A236V	A	-	2	0	OR52A5	5109742	0.000000	0.05858	0.975000	0.42487	0.072000	0.16883	0.600000	0.24104	2.707000	0.92482	0.655000	0.94253	GCA		0.408	OR52A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142823.1	NM_001005160		14	35	0	0	0	0	14	35				
OR4C15	81309	broad.mit.edu	37	11	55322553	55322553	+	Silent	SNP	G	G	T			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr11:55322553G>T	ENST00000314644.2	+	1	771	c.771G>T	c.(769-771)ggG>ggT	p.G257G		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TCAACAGTGGGTTTATCTGCA	0.463										HNSCC(20;0.049)																												uc010rig.1		NA																	0				ovary(1)|skin(1)	2						c.(769-771)GGG>GGT		olfactory receptor, family 4, subfamily C,							186.0	126.0	147.0					11																	55322553		2201	4296	6497	SO:0001819	synonymous_variant	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55322553G>T	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.771G>T	11.37:g.55322553G>T		HNSCC(20;0.049)					p.G257G	NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN			1	771	+			203			Helical; Name=5; (Potential).		Q6IFE2	Silent	SNP	ENST00000314644.2	37	c.771G>T	CCDS31501.1																																																																																				0.463	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		15	22	1	0	3.27e-08	1.22e-07	15	22				
OR4C6	219432	broad.mit.edu	37	11	55433051	55433051	+	Missense_Mutation	SNP	C	C	T	rs202011136		TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr11:55433051C>T	ENST00000314259.3	+	1	438	c.409C>T	c.(409-411)Cgg>Tgg	p.R137W		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CATGAGTCCACGGGTGTGCTG	0.512																																						uc001nht.3		NA																	0				skin(2)	2						c.(409-411)CGG>TGG		olfactory receptor, family 4, subfamily C,		C	TRP/ARG	0,4400		0,0,2200	98.0	93.0	95.0		409	-3.1	0.0	11		95	2,8590	2.2+/-6.3	0,2,4294	no	missense	OR4C6	NM_001004704.1	101	0,2,6494	TT,TC,CC		0.0233,0.0,0.0154	benign	137/310	55433051	2,12990	2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433051C>T	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.409C>T	11.37:g.55433051C>T	ENSP00000324769:p.Arg137Trp					OR4C6_uc010rik.1_Missense_Mutation_p.R137W	p.R137W	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN			3	674	+			137			Cytoplasmic (Potential).		B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.409C>T	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	C	4.137	0.023675	0.08006	0.0	2.33E-4	ENSG00000181903	ENST00000314259	T	0.42900	0.96	3.77	-3.14	0.05250	GPCR, rhodopsin-like superfamily (1);	0.721667	0.11263	N	0.582371	T	0.30166	0.0756	L	0.60012	1.86	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.30534	-0.9975	10	0.44086	T	0.13	.	1.8393	0.03147	0.5123:0.1821:0.1185:0.1871	.	137	Q8NH72	OR4C6_HUMAN	W	137	ENSP00000324769:R137W	ENSP00000324769:R137W	R	+	1	2	OR4C6	55189627	0.000000	0.05858	0.001000	0.08648	0.148000	0.21650	-5.309000	0.00132	-0.618000	0.05656	-0.487000	0.04747	CGG		0.512	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		48	18	0	0	0	0	48	18				
KAT5	10524	broad.mit.edu	37	11	65482325	65482325	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr11:65482325G>A	ENST00000377046.3	+	9	1146	c.874G>A	c.(874-876)Gag>Aag	p.E292K	KAT5_ENST00000530446.1_Missense_Mutation_p.E273K|KAT5_ENST00000341318.4_Missense_Mutation_p.E325K|KAT5_ENST00000352980.4_Missense_Mutation_p.E240K|KAT5_ENST00000534650.1_Missense_Mutation_p.E81K	NM_006388.3	NP_006379.2	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	292	MYST-type HAT.				androgen receptor signaling pathway (GO:0030521)|cellular response to estradiol stimulus (GO:0071392)|chromatin organization (GO:0006325)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|double-strand break repair (GO:0006302)|histone acetylation (GO:0016573)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of growth (GO:0040008)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|repressing transcription factor binding (GO:0070491)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						TCCAGGCAATGAGATTTACCG	0.537																																						uc001ofi.2		NA																	0					0						c.(874-876)GAG>AAG		K(lysine) acetyltransferase 5 isoform 2							163.0	130.0	141.0					11																	65482325		2201	4297	6498	SO:0001583	missense	10524				androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity	g.chr11:65482325G>A	U74667	CCDS8109.1, CCDS8110.1, CCDS31610.1, CCDS55771.1	11q13	2013-01-10	2008-07-04	2008-07-04	ENSG00000172977	ENSG00000172977		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	5275	protein-coding gene	gene with protein product	"""Tat interacting protein, 60kDa"", ""K-acetyltransferase 5"""	601409	"""HIV-1 Tat interactive protein, 60kDa"""	HTATIP		8607265	Standard	NM_006388		Approved	TIP60, PLIP, cPLA2, HTATIP1, ESA1, ZC2HC5	uc001ofk.3	Q92993	OTTHUMG00000166617	ENST00000377046.3:c.874G>A	11.37:g.65482325G>A	ENSP00000366245:p.Glu292Lys					KAT5_uc001ofj.2_Missense_Mutation_p.E240K|KAT5_uc001ofk.2_Missense_Mutation_p.E325K|KAT5_uc010roo.1_Missense_Mutation_p.E273K|KAT5_uc001ofl.2_Missense_Mutation_p.E81K	p.E292K	NM_006388	NP_006379	Q92993	KAT5_HUMAN			9	1124	+			292					B4E3C7|C9JL99|O95624|Q13430|Q17RW5|Q561W3|Q6GSE8|Q9BWK7	Missense_Mutation	SNP	ENST00000377046.3	37	c.874G>A	CCDS31610.1	.	.	.	.	.	.	.	.	.	.	G	32	5.106290	0.94292	.	.	ENSG00000172977	ENST00000377046;ENST00000352980;ENST00000341318;ENST00000530446;ENST00000534650	T;T;T;T	0.52057	0.7;0.71;0.68;0.69	5.06	5.06	0.68205	Acyl-CoA N-acyltransferase (1);MOZ/SAS-like protein (1);	0.000000	0.85682	D	0.000000	T	0.68604	0.3019	M	0.76170	2.325	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.77004	0.989;0.982;0.982;0.989	T	0.72243	-0.4350	10	0.87932	D	0	-26.4856	15.9798	0.80097	0.0:0.0:1.0:0.0	.	273;325;240;292	B4E3C7;Q92993-3;Q92993-2;Q92993	.;.;.;KAT5_HUMAN	K	292;240;325;273;81	ENSP00000366245:E292K;ENSP00000344955:E240K;ENSP00000340330:E325K;ENSP00000434765:E273K	ENSP00000340330:E325K	E	+	1	0	KAT5	65238901	1.000000	0.71417	0.988000	0.46212	0.825000	0.46686	9.321000	0.96353	2.622000	0.88805	0.561000	0.74099	GAG		0.537	KAT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390866.2	NM_006388		36	99	0	0	0	0	36	99				
TENM4	26011	broad.mit.edu	37	11	78516412	78516412	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr11:78516412C>A	ENST00000278550.7	-	15	2566	c.2104G>T	c.(2104-2106)Ggc>Tgc	p.G702C		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	702	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										GTTCCGTGGCCTGAACACTGG	0.607																																						uc001ozl.3		NA																	0				ovary(2)|pancreas(2)	4						c.(2104-2106)GGC>TGC		odz, odd Oz/ten-m homolog 4							51.0	58.0	56.0					11																	78516412		2102	4216	6318	SO:0001583	missense	26011				signal transduction	integral to membrane		g.chr11:78516412C>A	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.2104G>T	11.37:g.78516412C>A	ENSP00000278550:p.Gly702Cys						p.G702C	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN			15	2567	-			702			Extracellular (Potential).|EGF-like 5.		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.2104G>T	CCDS44688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.5|26.5	4.741341|4.741341	0.89573|0.89573	.|.	.|.	ENSG00000149256|ENSG00000149256	ENST00000278550|ENST00000533525	T|.	0.34072|.	1.38|.	5.1|5.1	5.1|5.1	0.69264|0.69264	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.90535|0.90535	0.7034|0.7034	H|H	0.98005|0.98005	4.125|4.125	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	P|.	0.60789|.	0.879|.	D|D	0.93888|0.93888	0.7177|0.7177	9|5	.|.	.|.	.|.	.|.	18.7262|18.7262	0.91714|0.91714	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	702|.	Q6N022|.	TEN4_HUMAN|.	C|H	702|15	ENSP00000278550:G702C|.	.|.	G|Q	-|-	1|3	0|2	ODZ4|ODZ4	78194060|78194060	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.901000|0.901000	0.52897|0.52897	7.651000|7.651000	0.83577|0.83577	2.644000|2.644000	0.89710|0.89710	0.563000|0.563000	0.77884|0.77884	GGC|CAG		0.607	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			6	3	1	0	8.13e-05	0.000290292	6	3				
NOX4	50507	broad.mit.edu	37	11	89070672	89070672	+	Silent	SNP	C	C	T			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr11:89070672C>T	ENST00000263317.4	-	16	1696	c.1458G>A	c.(1456-1458)gaG>gaA	p.E486E	NOX4_ENST00000531342.1_Silent_p.E139E|NOX4_ENST00000343727.5_Silent_p.E462E|NOX4_ENST00000527956.1_Silent_p.E462E|NOX4_ENST00000424319.1_Silent_p.E462E|NOX4_ENST00000525196.1_Silent_p.E250E|NOX4_ENST00000535633.1_Silent_p.E462E|NOX4_ENST00000542487.1_Silent_p.E462E|NOX4_ENST00000534731.1_Silent_p.E446E|NOX4_ENST00000375979.3_Silent_p.E179E|NOX4_ENST00000532825.1_Silent_p.E422E|NOX4_ENST00000527626.1_Silent_p.E299E|NOX4_ENST00000413594.2_Silent_p.E507E|NOX4_ENST00000528341.1_Silent_p.E461E			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	486	Mediates interaction with TLR4.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				CAGGTCTGTTCTCTTGCCAAA	0.368																																						uc001pct.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1456-1458)GAG>GAA		NADPH oxidase 4 isoform a							61.0	53.0	56.0					11																	89070672		2200	4278	6478	SO:0001819	synonymous_variant	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89070672C>T	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1458G>A	11.37:g.89070672C>T						NOX4_uc009yvr.2_Silent_p.E461E|NOX4_uc001pcu.2_Silent_p.E412E|NOX4_uc001pcw.2_Silent_p.E179E|NOX4_uc001pcx.2_Silent_p.E139E|NOX4_uc001pcv.2_Silent_p.E446E|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_Silent_p.E299E|NOX4_uc009yvp.2_Silent_p.E250E|NOX4_uc010rtv.1_Silent_p.E422E|NOX4_uc009yvq.2_Silent_p.E462E	p.E486E	NM_016931	NP_058627	Q9NPH5	NOX4_HUMAN			16	1697	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)	486			Cytoplasmic (Potential).|Mediates interaction with TLR4.		A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Silent	SNP	ENST00000263317.4	37	c.1458G>A	CCDS8285.1																																																																																				0.368	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931		5	22	0	0	0	0	5	22				
CNTN5	53942	broad.mit.edu	37	11	100169994	100169994	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr11:100169994C>T	ENST00000524871.1	+	20	2776	c.2486C>T	c.(2485-2487)tCt>tTt	p.S829F	CNTN5_ENST00000527185.1_Missense_Mutation_p.S829F|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000418526.2_Missense_Mutation_p.S755F|CNTN5_ENST00000279463.3_Missense_Mutation_p.S829F|CNTN5_ENST00000528682.1_Missense_Mutation_p.S829F	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	829	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GTGACATCCTCTGAAGCTTCC	0.433																																						uc001pga.2		NA																	0				skin(3)|ovary(2)|pancreas(2)|breast(1)	8						c.(2485-2487)TCT>TTT		contactin 5 isoform long							76.0	73.0	74.0					11																	100169994		1865	4090	5955	SO:0001583	missense	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:100169994C>T	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.2486C>T	11.37:g.100169994C>T	ENSP00000435637:p.Ser829Phe					CNTN5_uc001pfz.2_Missense_Mutation_p.S829F|CNTN5_uc001pgb.2_Missense_Mutation_p.S755F|CNTN5_uc010ruk.1_Missense_Mutation_p.S100F	p.S829F	NM_014361	NP_055176	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	20	2825	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	829			Fibronectin type-III 2.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	c.2486C>T	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.729149	0.89390	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27	5.62	5.62	0.85841	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.054414	0.85682	D	0.000000	T	0.64516	0.2605	N	0.24115	0.695	0.80722	D	1	D;D	0.67145	0.995;0.996	P;D	0.64877	0.814;0.93	T	0.68194	-0.5473	10	0.72032	D	0.01	.	18.6488	0.91421	0.0:1.0:0.0:0.0	.	755;829	O94779-2;O94779	.;CNTN5_HUMAN	F	829;829;829;755;829	ENSP00000433575:S829F;ENSP00000436185:S829F;ENSP00000435637:S829F;ENSP00000393229:S755F;ENSP00000279463:S829F	ENSP00000279463:S829F	S	+	2	0	CNTN5	99675204	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.708000	0.84633	2.660000	0.90430	0.650000	0.86243	TCT		0.433	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		46	11	0	0	0	0	46	11				
EXPH5	23086	broad.mit.edu	37	11	108380450	108380450	+	Silent	SNP	G	G	A			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr11:108380450G>A	ENST00000265843.4	-	6	5894	c.5784C>T	c.(5782-5784)aaC>aaT	p.N1928N	EXPH5_ENST00000525344.1_Silent_p.N1921N|EXPH5_ENST00000443411.1_Silent_p.N1740N|EXPH5_ENST00000428840.1_Silent_p.N1852N	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1928					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GGTTGGGAGGGTTCCTCAAAT	0.413																																						uc001pkk.2		NA																	0				skin(3)|ovary(2)	5						c.(5782-5784)AAC>AAT		exophilin 5 isoform a							76.0	78.0	77.0					11																	108380450		2201	4298	6499	SO:0001819	synonymous_variant	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108380450G>A		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.5784C>T	11.37:g.108380450G>A						EXPH5_uc010rvy.1_Silent_p.N1740N|EXPH5_uc010rvz.1_Silent_p.N1772N|EXPH5_uc010rwa.1_Silent_p.N1852N	p.N1928N	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	5895	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	1928					Q2KHM1|Q9Y4D6	Silent	SNP	ENST00000265843.4	37	c.5784C>T	CCDS8341.1																																																																																				0.413	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		50	13	0	0	0	0	50	13				
UBE4A	9354	broad.mit.edu	37	11	118263519	118263519	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr11:118263519C>T	ENST00000431736.2	+	19	3076	c.3004C>T	c.(3004-3006)Ccc>Tcc	p.P1002S	UBE4A_ENST00000545354.1_Missense_Mutation_p.P467S|UBE4A_ENST00000252108.3_Missense_Mutation_p.P995S					ubiquitination factor E4A											autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GTTCCTGGATCCCATTATGAG	0.473																																						uc001psw.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	5						c.(2983-2985)CCC>TCC		ubiquitination factor E4A							200.0	179.0	186.0					11																	118263519		2200	4296	6496	SO:0001583	missense	9354				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding	g.chr11:118263519C>T	D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19					"""U-box domain containing"""	12499	protein-coding gene	gene with protein product		603753	"""ubiquitination factor E4A (homologous to yeast UFD2)"", ""ubiquitination factor E4A (UFD2 homolog, yeast)"""			10089879	Standard	NM_004788		Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000431736.2:c.3004C>T	11.37:g.118263519C>T	ENSP00000387362:p.Pro1002Ser					UBE4A_uc001psv.2_Missense_Mutation_p.P1002S	p.P995S	NM_004788	NP_004779	Q14139	UBE4A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	19	3112	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	995			U-box.			Missense_Mutation	SNP	ENST00000431736.2	37	c.2983C>T	CCDS8396.1	.	.	.	.	.	.	.	.	.	.	C	35	5.448007	0.96205	.	.	ENSG00000110344	ENST00000252108;ENST00000431736;ENST00000545354	T;T	0.63255	-0.01;-0.03	5.95	5.95	0.96441	Zinc finger, RING/FYVE/PHD-type (1);U box domain (2);	0.000000	0.85682	D	0.000000	D	0.85195	0.5641	M	0.92077	3.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.993;1.0	D	0.87410	0.2375	10	0.72032	D	0.01	-13.6214	20.3932	0.98965	0.0:1.0:0.0:0.0	.	995;1002	Q14139;Q14139-2	UBE4A_HUMAN;.	S	995;1002;467	ENSP00000252108:P995S;ENSP00000387362:P1002S	ENSP00000252108:P995S	P	+	1	0	UBE4A	117768729	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.824000	0.97209	0.655000	0.94253	CCC		0.473	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398143.1	NM_004788		131	26	0	0	0	0	131	26				
TECTA	7007	broad.mit.edu	37	11	121058640	121058640	+	Silent	SNP	C	C	T	rs372866118		TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr11:121058640C>T	ENST00000392793.1	+	21	6370	c.6099C>T	c.(6097-6099)taC>taT	p.Y2033Y	TECTA_ENST00000264037.2_Silent_p.Y2033Y			O75443	TECTA_HUMAN	tectorin alpha	2033	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TAGGGGATTACGACGAAGTTC	0.453																																						uc010rzo.1		NA																	0				breast(6)|ovary(2)|skin(2)	10						c.(6097-6099)TAC>TAT		tectorin alpha precursor		C		0,4406		0,0,2203	170.0	145.0	154.0		6099	-7.6	0.8	11		154	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous	TECTA	NM_005422.2		0,2,6500	TT,TC,CC		0.0233,0.0,0.0154		2033/2156	121058640	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121058640C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.6099C>T	11.37:g.121058640C>T							p.Y2033Y	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	20	6099	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	2033			ZP.			Silent	SNP	ENST00000392793.1	37	c.6099C>T	CCDS8434.1																																																																																				0.453	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		72	15	0	0	0	0	72	15				
KCNJ1	3758	broad.mit.edu	37	11	128709211	128709211	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr11:128709211C>G	ENST00000392664.2	-	2	1101	c.985G>C	c.(985-987)Gta>Cta	p.V329L	KCNJ1_ENST00000440599.2_Missense_Mutation_p.V310L|KCNJ1_ENST00000324036.3_Missense_Mutation_p.V310L|KCNJ1_ENST00000392665.2_Missense_Mutation_p.V310L|KCNJ1_ENST00000392666.1_Missense_Mutation_p.V310L	NM_000220.4	NP_000211.1	P48048	KCNJ1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	329					cardiovascular system development (GO:0072358)|excretion (GO:0007588)|kidney development (GO:0001822)|post-embryonic development (GO:0009791)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of G-protein activated inward rectifier potassium channel activity (GO:1900128)|renal sodium ion absorption (GO:0070294)|synaptic transmission (GO:0007268)|tissue homeostasis (GO:0001894)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Bethanidine(DB00217)|Glimepiride(DB00222)|Glyburide(DB01016)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Tolazamide(DB00839)|Tolbutamide(DB01124)|Yohimbine(DB01392)	GTCTTGGATACTATGGGAGCA	0.493																																						uc001qeo.1		NA																	0				ovary(3)|breast(1)	4						c.(985-987)GTA>CTA		potassium inwardly-rectifying channel J1 isoform	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)						86.0	82.0	83.0					11																	128709211		2201	4297	6498	SO:0001583	missense	3758				excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity	g.chr11:128709211C>G	BC063109	CCDS8476.1, CCDS8477.1	11q24	2011-07-05			ENSG00000151704	ENSG00000151704		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6255	protein-coding gene	gene with protein product		600359				7680431, 8190102, 16382105	Standard	NM_153765		Approved	Kir1.1, ROMK1	uc001qeo.2	P48048	OTTHUMG00000048247	ENST00000392664.2:c.985G>C	11.37:g.128709211C>G	ENSP00000376432:p.Val329Leu					KCNJ1_uc001qep.1_Missense_Mutation_p.V310L|KCNJ1_uc001qeq.1_Missense_Mutation_p.V310L|KCNJ1_uc001qer.1_Missense_Mutation_p.V310L|KCNJ1_uc001qes.1_Missense_Mutation_p.V310L	p.V329L	NM_000220	NP_000211	P48048	IRK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	2	1036	-	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)	329			Cytoplasmic (By similarity).		B2RMR4|Q6LD67	Missense_Mutation	SNP	ENST00000392664.2	37	c.985G>C	CCDS8476.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.334655	0.24253	.	.	ENSG00000151704	ENST00000392665;ENST00000392666;ENST00000440599;ENST00000324036;ENST00000392664	D;D;D;D;D	0.94280	-3.39;-3.39;-3.39;-3.39;-3.39	5.63	5.63	0.86233	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.055412	0.64402	D	0.000001	D	0.89125	0.6626	N	0.25144	0.715	0.80722	D	1	P	0.45126	0.851	P	0.45232	0.474	D	0.86424	0.1756	10	0.05620	T	0.96	.	19.6914	0.96002	0.0:1.0:0.0:0.0	.	329	P48048	IRK1_HUMAN	L	310;310;310;310;329	ENSP00000376433:V310L;ENSP00000376434:V310L;ENSP00000406320:V310L;ENSP00000316233:V310L;ENSP00000376432:V329L	ENSP00000316233:V310L	V	-	1	0	KCNJ1	128214421	1.000000	0.71417	0.910000	0.35882	0.986000	0.74619	5.956000	0.70315	2.644000	0.89710	0.563000	0.77884	GTA		0.493	KCNJ1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386233.1	NM_000220		44	37	0	0	0	0	44	37				
TNFRSF1A	7132	broad.mit.edu	37	12	6438514	6438514	+	Silent	SNP	G	G	A			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr12:6438514G>A	ENST00000162749.2	-	10	1631	c.1332C>T	c.(1330-1332)ccC>ccT	p.P444P	TNFRSF1A_ENST00000540022.1_Silent_p.P401P|TNFRSF1A_ENST00000437813.3_5'Flank	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	444				GPAA -> APP (in Ref. 5; AAA36756). {ECO:0000305}.	apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of angiogenesis (GO:0045766)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|prostaglandin metabolic process (GO:0006693)|protein heterooligomerization (GO:0051291)|response to alkaloid (GO:0043279)|response to amino acid (GO:0043200)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|tetrapyrrole metabolic process (GO:0033013)|viral process (GO:0016032)	axon (GO:0030424)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	tumor necrosis factor-activated receptor activity (GO:0005031)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						ggagggcggcggggccgcAAA	0.706																																						uc001qnu.2		NA																	0				lung(2)|skin(1)	3						c.(1330-1332)CCC>CCT		tumor necrosis factor receptor 1 precursor							6.0	8.0	7.0					12																	6438514		2008	3981	5989	SO:0001819	synonymous_variant	7132				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity	g.chr12:6438514G>A	M75866	CCDS8542.1	12p13.2	2014-09-17			ENSG00000067182	ENSG00000067182		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11916	protein-coding gene	gene with protein product		191190		TNFR1		1655358, 2158863	Standard	NM_001065		Approved	TNF-R, TNFAR, TNFR60, TNF-R-I, CD120a, TNF-R55	uc001qnu.3	P19438	OTTHUMG00000168267	ENST00000162749.2:c.1332C>T	12.37:g.6438514G>A						TNFRSF1A_uc001qnt.2_Silent_p.P336P|TNFRSF1A_uc010sey.1_Silent_p.P212P|TNFRSF1A_uc010sez.1_Silent_p.P336P|TNFRSF1A_uc009zek.2_Silent_p.P401P	p.P444P	NM_001065	NP_001056	P19438	TNR1A_HUMAN			10	1613	-			444	GPAA -> APP (in Ref. 5; AAA36756).		Cytoplasmic (Potential).		A8K4X3|B2RDE4|B3KPQ1|B4DQB7|B4E309|B5M0B5|D3DUR1|Q9UCA4	Silent	SNP	ENST00000162749.2	37	c.1332C>T	CCDS8542.1																																																																																				0.706	TNFRSF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399038.1	NM_001065		6	18	0	0	0	0	6	18				
LRP6	4040	broad.mit.edu	37	12	12278294	12278294	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr12:12278294C>G	ENST00000261349.4	-	21	4461	c.4385G>C	c.(4384-4386)cGa>cCa	p.R1462P	BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000540415.1_5'Flank|LRP6_ENST00000543091.1_Missense_Mutation_p.R1417P	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1462					anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				AACATGGGCTCGGTCATAGGG	0.443																																						uc001rah.3		NA																	0				lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1)	12						c.(4384-4386)CGA>CCA		low density lipoprotein receptor-related protein							119.0	98.0	105.0					12																	12278294		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12278294C>G	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.4385G>C	12.37:g.12278294C>G	ENSP00000261349:p.Arg1462Pro					BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.R1417P	p.R1462P	NM_002336	NP_002327	O75581	LRP6_HUMAN			21	4527	-		Prostate(47;0.0865)	1462			Cytoplasmic (Potential).		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.4385G>C	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	C	32	5.161777	0.94727	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	T;T	0.50001	0.76;0.76	5.73	5.73	0.89815	.	0.000000	0.56097	D	0.000028	T	0.71350	0.3329	M	0.74467	2.265	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.85130	0.997;0.959	T	0.72590	-0.4247	10	0.87932	D	0	.	20.2602	0.98440	0.0:1.0:0.0:0.0	.	1417;1462	F5H7J9;O75581	.;LRP6_HUMAN	P	1462;1417	ENSP00000261349:R1462P;ENSP00000442472:R1417P	ENSP00000261349:R1462P	R	-	2	0	LRP6	12169561	1.000000	0.71417	0.997000	0.53966	0.934000	0.57294	7.414000	0.80117	2.861000	0.98227	0.655000	0.94253	CGA		0.443	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			18	22	0	0	0	0	18	22				
BCAT1	586	broad.mit.edu	37	12	25047338	25047338	+	Silent	SNP	T	T	G			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr12:25047338T>G	ENST00000261192.7	-	3	676	c.150A>C	c.(148-150)ggA>ggC	p.G50G	BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000539780.1_Silent_p.G50G|BCAT1_ENST00000539282.1_Silent_p.G62G|BCAT1_ENST00000342945.5_Silent_p.G26G|BCAT1_ENST00000538118.1_Silent_p.G49G	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	50					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cell proliferation (GO:0008283)|cellular nitrogen compound metabolic process (GO:0034641)|G1/S transition of mitotic cell cycle (GO:0000082)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)	TGAACACAGTTCCAAAAACCA	0.438																																						uc001rgd.3		NA																	0				lung(1)|breast(1)	2						c.(148-150)GGA>GGC		branched chain aminotransferase 1, cytosolic	Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)						80.0	81.0	81.0					12																	25047338		1888	4117	6005	SO:0001819	synonymous_variant	586				branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity	g.chr12:25047338T>G		CCDS44845.1, CCDS53760.1, CCDS53761.1, CCDS53762.1, CCDS53763.1	12p12.1	2012-10-02	2010-05-07		ENSG00000060982	ENSG00000060982	2.6.1.42		976	protein-coding gene	gene with protein product		113520	"""branched chain aminotransferase 1, cytosolic"""	BCT1		9165094	Standard	NM_005504		Approved		uc010six.2	P54687	OTTHUMG00000169053	ENST00000261192.7:c.150A>C	12.37:g.25047338T>G						BCAT1_uc001rgc.2_Silent_p.G49G|BCAT1_uc010six.1_Silent_p.G62G|BCAT1_uc010siy.1_Silent_p.G50G|BCAT1_uc001rge.3_Silent_p.G26G	p.G50G	NM_005504	NP_005495	P54687	BCAT1_HUMAN			3	592	-	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)		50					B3KY27|B7Z2M5|B7Z5L0|F5H5E4|Q68DQ7|Q96MY9	Silent	SNP	ENST00000261192.7	37	c.150A>C	CCDS44845.1																																																																																				0.438	BCAT1-001	KNOWN	upstream_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402080.1	NM_005504		5	15	0	0	0	0	5	15				
ITPR2	3709	broad.mit.edu	37	12	26781079	26781079	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr12:26781079C>T	ENST00000381340.3	-	23	3367	c.2951G>A	c.(2950-2952)aGa>aAa	p.R984K	ITPR2_ENST00000545902.1_5'UTR|RP11-666F17.1_ENST00000414098.2_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	984					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)	p.R984K(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	ATAATCCAGTCTGACACTCAG	0.353																																						uc001rhg.2		NA																	1	Substitution - Missense(1)	p.R984K(1)	skin(1)	kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14						c.(2950-2952)AGA>AAA		inositol 1,4,5-triphosphate receptor, type 2							159.0	152.0	154.0					12																	26781079		1849	4097	5946	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26781079C>T	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.2951G>A	12.37:g.26781079C>T	ENSP00000370744:p.Arg984Lys						p.R984K	NM_002223	NP_002214	Q14571	ITPR2_HUMAN			23	3368	-	Colorectal(261;0.0847)		984			Cytoplasmic (Potential).		O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.2951G>A	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	32	5.182632	0.94885	.	.	ENSG00000123104	ENST00000381340	T	0.62498	0.02	4.88	4.88	0.63580	.	0.045292	0.85682	D	0.000000	T	0.81370	0.4808	M	0.87827	2.91	0.80722	D	1	D	0.71674	0.998	D	0.68039	0.955	D	0.83979	0.0331	10	0.52906	T	0.07	.	18.2387	0.89958	0.0:1.0:0.0:0.0	.	984	Q14571	ITPR2_HUMAN	K	984	ENSP00000370744:R984K	ENSP00000370744:R984K	R	-	2	0	ITPR2	26672346	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	7.206000	0.77891	2.529000	0.85273	0.650000	0.86243	AGA		0.353	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		61	119	0	0	0	0	61	119				
C12orf71	728858	broad.mit.edu	37	12	27234247	27234247	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr12:27234247T>C	ENST00000429849.2	-	2	700	c.670A>G	c.(670-672)Atc>Gtc	p.I224V		NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN	chromosome 12 open reading frame 71	224										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						GAGGGGAGGATACGCTGCCTC	0.552																																						uc001rhq.2		NA																	0					0						c.(670-672)ATC>GTC		hypothetical protein LOC728858							115.0	111.0	113.0					12																	27234247		2122	4244	6366	SO:0001583	missense	728858							g.chr12:27234247T>C		CCDS44851.1	12p11.23	2008-07-25			ENSG00000214700	ENSG00000214700			34452	protein-coding gene	gene with protein product							Standard	NM_001080406		Approved	LOC728858	uc001rhq.3	A8MTZ7	OTTHUMG00000169274	ENST00000429849.2:c.670A>G	12.37:g.27234247T>C	ENSP00000413728:p.Ile224Val						p.I224V	NM_001080406	NP_001073875	A8MTZ7	CL071_HUMAN			2	709	-			224						Missense_Mutation	SNP	ENST00000429849.2	37	c.670A>G	CCDS44851.1	.	.	.	.	.	.	.	.	.	.	T	0.007	-1.975324	0.00452	.	.	ENSG00000214700	ENST00000398815;ENST00000429849	T	0.32988	1.43	2.66	-3.81	0.04294	.	0.712659	0.10764	N	0.636799	T	0.09598	0.0236	N	0.05124	-0.11	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.33137	-0.9880	10	0.07813	T	0.8	-1.3203	3.7365	0.08512	0.1789:0.3136:0.0:0.5076	.	224	A8MTZ7	CL071_HUMAN	V	256;224	ENSP00000413728:I224V	ENSP00000381796:I256V	I	-	1	0	C12orf71	27125514	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.234000	0.09028	-0.945000	0.03681	-0.534000	0.04291	ATC		0.552	C12orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403258.1	NM_001080406		53	73	0	0	0	0	53	73				
KMT2D	8085	broad.mit.edu	37	12	49420108	49420108	+	Missense_Mutation	SNP	C	C	T	rs398123729		TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr12:49420108C>T	ENST00000301067.7	-	48	15640	c.15641G>A	c.(15640-15642)cGc>cAc	p.R5214H		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5214	FYR N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00875}.		R -> H (in KABUK1). {ECO:0000269|PubMed:20711175}.		chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CCAATAGATGCGCGTGGCCTC	0.577																																						uc001rta.3		NA								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(15640-15642)CGC>CAC		myeloid/lymphoid or mixed-lineage leukemia 2							50.0	54.0	53.0					12																	49420108		2080	4205	6285	SO:0001583	missense	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49420108C>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.15641G>A	12.37:g.49420108C>T	ENSP00000301067:p.Arg5214His	HNSCC(34;0.089)					p.R5214H	NM_003482	NP_003473	O14686	MLL2_HUMAN			48	15641	-			5214		R -> H (in KABS).	FYR N-terminal.		O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.15641G>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.953570	0.53293	.	.	ENSG00000167548	ENST00000301067	D	0.89939	-2.59	5.12	5.12	0.69794	FY-rich, N-terminal (1);FY-rich, N-terminal subgroup (1);	0.000000	0.37261	N	0.002172	D	0.95865	0.8654	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96743	0.9548	10	0.87932	D	0	.	17.7186	0.88344	0.0:1.0:0.0:0.0	.	5214	O14686	MLL2_HUMAN	H	5214	ENSP00000301067:R5214H	ENSP00000301067:R5214H	R	-	2	0	MLL2	47706375	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	7.818000	0.86416	2.565000	0.86533	0.655000	0.94253	CGC		0.577	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			23	30	0	0	0	0	23	30				
KRT78	196374	broad.mit.edu	37	12	53237950	53237950	+	Missense_Mutation	SNP	G	G	A	rs145166082		TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr12:53237950G>A	ENST00000304620.4	-	6	1037	c.974C>T	c.(973-975)aCg>aTg	p.T325M	KRT78_ENST00000359499.4_Missense_Mutation_p.T215M	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	325	Coil 2.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CTGGACTTTCGTTTCCTGCAT	0.527																																						uc001sbc.1		NA																	0				ovary(2)	2						c.(973-975)ACG>ATG		keratin 5b		G	MET/THR	0,4406		0,0,2203	193.0	176.0	182.0		974	0.5	0.0	12	dbSNP_134	182	3,8597	3.0+/-9.4	0,3,4297	yes	missense	KRT78	NM_173352.2	81	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	325/521	53237950	3,13003	2203	4300	6503	SO:0001583	missense	196374					keratin filament	protein binding|structural molecule activity	g.chr12:53237950G>A	AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.974C>T	12.37:g.53237950G>A	ENSP00000306261:p.Thr325Met						p.T325M	NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN			6	1038	-			325			Coil 2.|Rod.		A8K4D6|Q5HYM7|Q7RTT2	Missense_Mutation	SNP	ENST00000304620.4	37	c.974C>T	CCDS8840.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.912296	0.52439	0.0	3.49E-4	ENSG00000170423	ENST00000359499;ENST00000304620;ENST00000539860	D;D	0.87729	-2.29;-2.29	4.65	0.475	0.16774	Filament (1);	1.704760	0.04040	N	0.302881	D	0.90686	0.7078	M	0.80332	2.49	0.09310	N	1	D	0.58970	0.984	P	0.53722	0.733	T	0.74760	-0.3556	10	0.87932	D	0	.	5.4899	0.16771	0.2562:0.1442:0.5996:0.0	.	325	Q8N1N4	K2C78_HUMAN	M	215;325;96	ENSP00000352479:T215M;ENSP00000306261:T325M	ENSP00000306261:T325M	T	-	2	0	KRT78	51524217	0.002000	0.14202	0.001000	0.08648	0.004000	0.04260	0.126000	0.15769	-0.014000	0.14175	0.558000	0.71614	ACG		0.527	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406380.1	NM_173352		81	96	0	0	0	0	81	96				
LRP1	4035	broad.mit.edu	37	12	57604642	57604642	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr12:57604642T>C	ENST00000243077.3	+	83	13362	c.12896T>C	c.(12895-12897)cTg>cCg	p.L4299P		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4299	EGF-like 19. {ECO:0000255|PROSITE- ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCCGGCTTCCTGGGCGACCGC	0.647																																						uc001snd.2		NA																	0				ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(12895-12897)CTG>CCG		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						28.0	34.0	32.0					12																	57604642		2203	4298	6501	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57604642T>C	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.12896T>C	12.37:g.57604642T>C	ENSP00000243077:p.Leu4299Pro						p.L4299P	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	83	13362	+			4299			Extracellular (Potential).|EGF-like 19.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.12896T>C	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	T	12.74	2.029722	0.35797	.	.	ENSG00000123384	ENST00000243077	T	0.11277	2.79	4.45	4.45	0.53987	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.110162	0.37261	N	0.002164	T	0.08582	0.0213	L	0.43152	1.355	0.80722	D	1	B	0.31730	0.337	B	0.28011	0.085	T	0.22556	-1.0213	10	0.23891	T	0.37	.	7.9303	0.29899	0.0:0.0946:0.0:0.9054	.	4299	Q07954	LRP1_HUMAN	P	4299	ENSP00000243077:L4299P	ENSP00000243077:L4299P	L	+	2	0	LRP1	55890909	0.999000	0.42202	1.000000	0.80357	0.968000	0.65278	1.071000	0.30666	2.024000	0.59613	0.379000	0.24179	CTG		0.647	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		3	36	0	0	0	0	3	36				
B4GALNT1	2583	broad.mit.edu	37	12	58021951	58021951	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr12:58021951C>T	ENST00000341156.4	-	9	1681	c.1097G>A	c.(1096-1098)cGg>cAg	p.R366Q	B4GALNT1_ENST00000418555.2_Missense_Mutation_p.R311Q|B4GALNT1_ENST00000550943.1_5'Flank	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	366					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CCTCTCCAGCCGCGTCCGCGC	0.652																																						uc001spg.1		NA																	0					0						c.(1096-1098)CGG>CAG		beta-1,4-N-acetyl-galactosaminyl transferase 1							67.0	66.0	67.0					12																	58021951		2203	4300	6503	SO:0001583	missense	2583				lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	g.chr12:58021951C>T	M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	4117	protein-coding gene	gene with protein product	"""GD2 synthase, GM2 synthase"""	601873	"""UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)"", ""UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1"", ""spastic paraplegia 26"""	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.1097G>A	12.37:g.58021951C>T	ENSP00000341562:p.Arg366Gln					B4GALNT1_uc010sru.1_Missense_Mutation_p.R311Q	p.R366Q	NM_001478	NP_001469	Q00973	B4GN1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		9	1529	-	Melanoma(17;0.122)		366			Lumenal (Potential).		B4DE26|Q8N636	Missense_Mutation	SNP	ENST00000341156.4	37	c.1097G>A	CCDS8950.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	20.6|20.6	4.020058|4.020058	0.75275|0.75275	.|.	.|.	ENSG00000135454|ENSG00000135454	ENST00000547741|ENST00000341156;ENST00000418555	.|T;T	.|0.76709	.|-1.04;-1.04	4.79|4.79	2.81|2.81	0.32909|0.32909	.|Glycosyl transferase, family 2 (1);	.|0.117922	.|0.56097	.|N	.|0.000034	T|T	0.64516|0.64516	0.2605|0.2605	L|L	0.41824|0.41824	1.3|1.3	0.80722|0.80722	D|D	1|1	.|B;B	.|0.25169	.|0.119;0.105	.|B;B	.|0.21546	.|0.035;0.018	T|T	0.62742|0.62742	-0.6790|-0.6790	5|10	.|0.56958	.|D	.|0.05	-8.0857|-8.0857	4.8411|4.8411	0.13491|0.13491	0.0:0.6121:0.0:0.3879|0.0:0.6121:0.0:0.3879	.|.	.|311;366	.|B4DE26;Q00973	.|.;B4GN1_HUMAN	S|Q	38|366;311	.|ENSP00000341562:R366Q;ENSP00000401601:R311Q	.|ENSP00000341562:R366Q	G|R	-|-	1|2	0|0	B4GALNT1|B4GALNT1	56308218|56308218	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.961000|0.961000	0.63080|0.63080	2.135000|2.135000	0.42112|0.42112	1.263000|1.263000	0.44181|0.44181	0.561000|0.561000	0.74099|0.74099	GGC|CGG		0.652	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407853.1	NM_001478		24	39	0	0	0	0	24	39				
ZFC3H1	196441	broad.mit.edu	37	12	72038823	72038823	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr12:72038823T>A	ENST00000378743.3	-	4	1471	c.1113A>T	c.(1111-1113)gaA>gaT	p.E371D		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	371					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GAAGCTGTAATTCAGATAGTT	0.338																																						uc001swo.2		NA																	0				ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(1111-1113)GAA>GAT		proline/serine-rich coiled-coil 2							81.0	69.0	73.0					12																	72038823		1816	4073	5889	SO:0001583	missense	196441				RNA processing	intracellular	metal ion binding	g.chr12:72038823T>A	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.1113A>T	12.37:g.72038823T>A	ENSP00000368017:p.Glu371Asp						p.E371D	NM_144982	NP_659419	O60293	ZC3H1_HUMAN			4	1472	-			371			Potential.		Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	c.1113A>T	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.110679	0.77210	.	.	ENSG00000133858	ENST00000378743	T	0.37915	1.17	5.58	-1.31	0.09230	.	0.000000	0.64402	D	0.000001	T	0.40694	0.1127	L	0.29908	0.895	0.80722	D	1	D	0.63880	0.993	D	0.70016	0.967	T	0.10086	-1.0645	10	0.38643	T	0.18	.	11.656	0.51318	0.0:0.4402:0.0:0.5598	.	371	O60293	ZC3H1_HUMAN	D	371	ENSP00000368017:E371D	ENSP00000368017:E371D	E	-	3	2	ZFC3H1	70325090	1.000000	0.71417	0.978000	0.43139	0.935000	0.57460	1.284000	0.33249	-0.120000	0.11809	-0.256000	0.11100	GAA		0.338	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		16	22	0	0	0	0	16	22				
DDX55	57696	broad.mit.edu	37	12	124104018	124104018	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr12:124104018T>C	ENST00000238146.4	+	13	1423	c.1373T>C	c.(1372-1374)cTg>cCg	p.L458P	DDX55_ENST00000421670.3_Missense_Mutation_p.L65P|SNORA9_ENST00000384170.1_RNA|DDX55_ENST00000538744.1_Missense_Mutation_p.L427P|DDX55_ENST00000541259.1_3'UTR	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	458						membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		TTTGCCCTGCTGAGGATGCCC	0.438																																						uc001ufi.2		NA																	0				ovary(1)	1						c.(1372-1374)CTG>CCG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 55							111.0	111.0	111.0					12																	124104018		2203	4300	6503	SO:0001583	missense	57696						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr12:124104018T>C	AB046815	CCDS9251.1	12q24.31	2003-06-13			ENSG00000111364	ENSG00000111364		"""DEAD-boxes"""	20085	protein-coding gene	gene with protein product						10997877	Standard	NM_020936		Approved	KIAA1595	uc001ufi.3	Q8NHQ9	OTTHUMG00000168695	ENST00000238146.4:c.1373T>C	12.37:g.124104018T>C	ENSP00000238146:p.Leu458Pro					DDX55_uc001ufh.2_Nonstop_Mutation_p.*306R|DDX55_uc001ufk.2_Missense_Mutation_p.L311P|DDX55_uc001ufl.2_Missense_Mutation_p.L65P	p.L458P	NM_020936	NP_065987	Q8NHQ9	DDX55_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)	13	1397	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		458					Q658L6|Q8IYH0|Q9HCH7	Missense_Mutation	SNP	ENST00000238146.4	37	c.1373T>C	CCDS9251.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.2|24.2	4.507498|4.507498	0.85282|0.85282	.|.	.|.	ENSG00000111364|ENSG00000111364	ENST00000238146;ENST00000538744;ENST00000421670|ENST00000538449	T;T;T|.	0.62232|.	3.77;3.43;0.04|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	0.000000|.	0.50627|.	D|.	0.000113|.	D|.	0.86326|.	0.5906|.	M|M	0.94063|0.94063	3.49|3.49	0.80722|0.80722	D|D	1|1	P|.	0.45011|.	0.848|.	P|.	0.56278|.	0.795|.	D|.	0.89963|.	0.4088|.	10|.	0.52906|.	T|.	0.07|.	.|.	16.0246|16.0246	0.80532|0.80532	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	458|.	Q8NHQ9|.	DDX55_HUMAN|.	P|R	458;427;65|354	ENSP00000238146:L458P;ENSP00000443114:L427P;ENSP00000442332:L65P|.	ENSP00000238146:L458P|.	L|X	+|+	2|1	0|0	DDX55|DDX55	122669971|122669971	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.883000|0.883000	0.51084|0.51084	8.040000|8.040000	0.89188|0.89188	2.175000|2.175000	0.68902|0.68902	0.533000|0.533000	0.62120|0.62120	CTG|TGA		0.438	DDX55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400616.2			49	79	0	0	0	0	49	79				
GOLGA3	2802	broad.mit.edu	37	12	133384625	133384625	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr12:133384625T>C	ENST00000450791.2	-	4	1213	c.1030A>G	c.(1030-1032)Atg>Gtg	p.M344V	GOLGA3_ENST00000545875.1_Missense_Mutation_p.M344V|GOLGA3_ENST00000456883.2_Missense_Mutation_p.M344V|GOLGA3_ENST00000204726.3_Missense_Mutation_p.M344V|GOLGA3_ENST00000537452.1_Missense_Mutation_p.M344V			Q08378	GOGA3_HUMAN	golgin A3	344					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CCGTTGACCATATAGGGGGTG	0.612																																						uc001ukz.1		NA																	0				ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(1030-1032)ATG>GTG		Golgi autoantigen, golgin subfamily a, 3							89.0	77.0	81.0					12																	133384625		2203	4300	6503	SO:0001583	missense	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133384625T>C	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.1030A>G	12.37:g.133384625T>C	ENSP00000410378:p.Met344Val					GOLGA3_uc001ula.1_Missense_Mutation_p.M344V|GOLGA3_uc001ulb.2_Missense_Mutation_p.M344V	p.M344V	NM_005895	NP_005886	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	5	1589	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	344					A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	c.1030A>G	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	t	0.008	-1.889957	0.00527	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62	5.73	-8.95	0.00765	.	0.618093	0.17067	N	0.188325	T	0.06962	0.0177	N	0.04043	-0.29	0.23221	N	0.998095	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.33343	-0.9872	10	0.02654	T	1	.	5.2136	0.15331	0.0824:0.1381:0.2407:0.5388	.	344;344;344	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	V	344	ENSP00000204726:M344V;ENSP00000410378:M344V;ENSP00000409303:M344V;ENSP00000442143:M344V;ENSP00000442603:M344V	ENSP00000204726:M344V	M	-	1	0	GOLGA3	131894698	0.669000	0.27502	0.000000	0.03702	0.001000	0.01503	0.266000	0.18534	-1.168000	0.02776	-1.147000	0.01851	ATG		0.612	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		33	38	0	0	0	0	33	38				
SACS	26278	broad.mit.edu	37	13	23905802	23905802	+	Silent	SNP	T	T	C			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr13:23905802T>C	ENST00000382292.3	-	9	12486	c.12213A>G	c.(12211-12213)gaA>gaG	p.E4071E	SACS_ENST00000402364.1_Silent_p.E3321E|SACS_ENST00000382298.3_Silent_p.E4071E			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	4071					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAGCAAAAGTTTCACTTCTGC	0.363																																						uc001uon.2		NA																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(12211-12213)GAA>GAG		sacsin							67.0	65.0	66.0					13																	23905802		2203	4300	6503	SO:0001819	synonymous_variant	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23905802T>C	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.12213A>G	13.37:g.23905802T>C						SACS_uc001uoo.2_Silent_p.E3924E|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.E4071E	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	12802	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	4071					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	ENST00000382292.3	37	c.12213A>G	CCDS9300.2																																																																																				0.363	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		19	33	0	0	0	0	19	33				
CDK8	1024	broad.mit.edu	37	13	26967609	26967609	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr13:26967609A>G	ENST00000381527.3	+	7	1255	c.752A>G	c.(751-753)cAg>cGg	p.Q251R	CDK8_ENST00000536792.1_3'UTR	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	251	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		CACCATGACCAGCTGGACAGA	0.363																																						uc001uqr.1		NA																	0				lung(2)|large_intestine(1)|ovary(1)|skin(1)	5						c.(751-753)CAG>CGG		cyclin-dependent kinase 8							199.0	189.0	192.0					13																	26967609		2203	4300	6503	SO:0001583	missense	1024				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr13:26967609A>G	X85753	CCDS9317.1	13q12	2011-11-08			ENSG00000132964	ENSG00000132964		"""Cyclin-dependent kinases"""	1779	protein-coding gene	gene with protein product		603184				7568034	Standard	NM_001260		Approved	K35	uc001uqr.1	P49336	OTTHUMG00000016617	ENST00000381527.3:c.752A>G	13.37:g.26967609A>G	ENSP00000370938:p.Gln251Arg					CDK8_uc001uqs.1_Missense_Mutation_p.Q251R|CDK8_uc001uqt.1_Missense_Mutation_p.Q78R	p.Q251R	NM_001260	NP_001251	P49336	CDK8_HUMAN		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)	7	778	+	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)	251			Protein kinase.		Q5VUF3|Q6ISB5	Missense_Mutation	SNP	ENST00000381527.3	37	c.752A>G	CCDS9317.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.466579	0.84425	.	.	ENSG00000132964	ENST00000381527	T	0.50001	0.76	5.32	5.32	0.75619	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.74145	0.3678	M	0.91354	3.2	0.80722	D	1	D;D	0.63046	0.99;0.992	D;D	0.67548	0.92;0.952	T	0.81236	-0.1024	10	0.87932	D	0	-9.9938	15.5584	0.76219	1.0:0.0:0.0:0.0	.	251;251	P49336-2;P49336	.;CDK8_HUMAN	R	251	ENSP00000370938:Q251R	ENSP00000370938:Q251R	Q	+	2	0	CDK8	25865609	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.910000	0.92685	2.122000	0.65172	0.528000	0.53228	CAG		0.363	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044250.1			73	109	0	0	0	0	73	109				
FLT1	2321	broad.mit.edu	37	13	28913349	28913349	+	Missense_Mutation	SNP	T	T	C	rs565012505		TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr13:28913349T>C	ENST00000282397.4	-	17	2695	c.2444A>G	c.(2443-2445)tAt>tGt	p.Y815C	FLT1_ENST00000540678.1_Missense_Mutation_p.Y33C	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	815					blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCTGGCATCATAAGGGAGCCG	0.398																																						uc001usb.3		NA																	0				lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24						c.(2443-2445)TAT>TGT		fms-related tyrosine kinase 1 isoform 1	Sunitinib(DB01268)						82.0	81.0	81.0					13																	28913349		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28913349T>C	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.2444A>G	13.37:g.28913349T>C	ENSP00000282397:p.Tyr815Cys					FLT1_uc001usa.3_Missense_Mutation_p.Y33C	p.Y815C	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	17	2729	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	815			Cytoplasmic (Potential).		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.2444A>G	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.549580	0.86127	.	.	ENSG00000102755	ENST00000282397;ENST00000540678	D;D	0.89485	-2.52;-2.52	5.52	5.52	0.82312	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.94506	0.8231	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95157	0.8278	10	0.87932	D	0	.	15.9269	0.79624	0.0:0.0:0.0:1.0	.	815	P17948	VGFR1_HUMAN	C	815;33	ENSP00000282397:Y815C;ENSP00000443311:Y33C	ENSP00000282397:Y815C	Y	-	2	0	FLT1	27811349	1.000000	0.71417	0.953000	0.39169	0.991000	0.79684	6.308000	0.72820	2.228000	0.72767	0.533000	0.62120	TAT		0.398	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			21	38	0	0	0	0	21	38				
FRY	10129	broad.mit.edu	37	13	32798394	32798394	+	Silent	SNP	G	G	A	rs530666616	byFrequency	TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr13:32798394G>A	ENST00000380250.3	+	37	5284	c.4788G>A	c.(4786-4788)acG>acA	p.T1596T		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1596						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CTCCCTACACGGGCTGGTTGC	0.498																																						uc001utx.2		NA																	0				ovary(5)|large_intestine(1)|skin(1)	7						c.(4786-4788)ACG>ACA		furry homolog							70.0	71.0	71.0					13																	32798394		1864	4099	5963	SO:0001819	synonymous_variant	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32798394G>A	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.4788G>A	13.37:g.32798394G>A						FRY_uc010tdw.1_RNA	p.T1596T	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	37	5284	+		Lung SC(185;0.0271)	1596					Q9Y3N6	Silent	SNP	ENST00000380250.3	37	c.4788G>A	CCDS41875.1																																																																																				0.498	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		42	48	0	0	0	0	42	48				
ZC3H13	23091	broad.mit.edu	37	13	46577305	46577305	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr13:46577305C>G	ENST00000242848.4	-	8	1261	c.913G>C	c.(913-915)Gaa>Caa	p.E305Q	ZC3H13_ENST00000470308.1_5'UTR|ZC3H13_ENST00000282007.3_Missense_Mutation_p.E305Q			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	305							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CTTTGTCGTTCAAAATCTCGT	0.313																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	uc010tfw.1		NA																	0				ovary(1)|lung(1)	2						c.(913-915)GAA>CAA		zinc finger CCCH-type containing 13							195.0	183.0	187.0					13																	46577305		2203	4300	6503	SO:0001583	missense	23091						nucleic acid binding|zinc ion binding	g.chr13:46577305C>G	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.913G>C	13.37:g.46577305C>G	ENSP00000242848:p.Glu305Gln					ZC3H13_uc001vas.1_Missense_Mutation_p.E305Q|ZC3H13_uc001vat.1_Missense_Mutation_p.E305Q	p.E305Q	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	7	919	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	305					A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37	c.913G>C		.	.	.	.	.	.	.	.	.	.	C	16.23	3.065581	0.55539	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000431251	T;T	0.35048	2.4;1.33	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000008	T	0.52821	0.1758	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.994;0.997	T	0.41680	-0.9495	10	0.39692	T	0.17	.	20.024	0.97514	0.0:1.0:0.0:0.0	.	305;305	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	Q	305;305;121	ENSP00000242848:E305Q;ENSP00000282007:E305Q	ENSP00000242848:E305Q	E	-	1	0	ZC3H13	45475306	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.205000	0.77881	2.809000	0.96659	0.655000	0.94253	GAA		0.313	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		7	154	0	0	0	0	7	154				
GPC5	2262	broad.mit.edu	37	13	92408604	92408604	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr13:92408604C>T	ENST00000377067.3	+	5	1582	c.1210C>T	c.(1210-1212)Cag>Tag	p.Q404*	GPC5_ENST00000483422.1_3'UTR	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	404					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TCTAGCTGATCAGCTTTGTGC	0.373																																						uc010tif.1		NA																	0				ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5						c.(1210-1212)CAG>TAG		glypican 5 precursor							145.0	142.0	143.0					13																	92408604		2203	4300	6503	SO:0001587	stop_gained	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:92408604C>T	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.1210C>T	13.37:g.92408604C>T	ENSP00000366267:p.Gln404*						p.Q404*	NM_004466	NP_004457	P78333	GPC5_HUMAN			5	1576	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	404					B2R726|O60436|Q9BX27	Nonsense_Mutation	SNP	ENST00000377067.3	37	c.1210C>T	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	C	38	6.666277	0.97747	.	.	ENSG00000179399	ENST00000377067	.	.	.	5.32	2.65	0.31530	.	0.368895	0.31589	N	0.007383	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-16.4053	9.5944	0.39565	0.1465:0.5443:0.3092:0.0	.	.	.	.	X	404	.	ENSP00000366267:Q404X	Q	+	1	0	GPC5	91206605	1.000000	0.71417	0.997000	0.53966	0.601000	0.36947	2.533000	0.45667	0.235000	0.21160	0.543000	0.68304	CAG		0.373	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		27	62	0	0	0	0	27	62				
COL4A1	1282	broad.mit.edu	37	13	110831315	110831315	+	Missense_Mutation	SNP	C	C	T	rs113994110		TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr13:110831315C>T	ENST00000375820.4	-	31	2534	c.2413G>A	c.(2413-2415)Gga>Aga	p.G805R		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	805	Triple-helical region.		G -> R (in BSVDH). {ECO:0000269|PubMed:17379824}.		axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCCCTAGCTCCAGGGGGGCCT	0.547																																						uc001vqw.3		NA																	0				ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	GRCh37	CM071628	COL4A1	M	rs113994110	c.(2413-2415)GGA>AGA		alpha 1 type IV collagen preproprotein							15.0	17.0	16.0					13																	110831315		2201	4299	6500	SO:0001583	missense	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110831315C>T	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.2413G>A	13.37:g.110831315C>T	ENSP00000364979:p.Gly805Arg					COL4A1_uc010agl.2_Intron	p.G805R	NM_001845	NP_001836	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		31	2535	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	805		G -> R (in BSVDH).	Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	c.2413G>A	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.249722	0.80024	.	.	ENSG00000187498	ENST00000375820	D	0.97959	-4.63	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.99333	0.9766	H	0.98818	4.34	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98406	1.0570	10	0.56958	D	0.05	.	18.0343	0.89294	0.0:1.0:0.0:0.0	.	805	P02462	CO4A1_HUMAN	R	805	ENSP00000364979:G805R	ENSP00000364979:G805R	G	-	1	0	COL4A1	109629316	1.000000	0.71417	0.994000	0.49952	0.523000	0.34469	6.923000	0.75817	2.328000	0.79073	0.655000	0.94253	GGA		0.547	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			6	16	0	0	0	0	6	16				
NIN	51199	broad.mit.edu	37	14	51227017	51227017	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr14:51227017T>A	ENST00000382041.3	-	17	2147	c.1957A>T	c.(1957-1959)Aac>Tac	p.N653Y	NIN_ENST00000324330.9_Missense_Mutation_p.N653Y|NIN_ENST00000245441.5_Missense_Mutation_p.N653Y|NIN_ENST00000530997.2_Missense_Mutation_p.N653Y|NIN_ENST00000389868.3_Missense_Mutation_p.N653Y|NIN_ENST00000453196.1_Missense_Mutation_p.N653Y|NIN_ENST00000382043.4_Missense_Mutation_p.N653Y	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	653					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TGCTTCATGTTCTCCTGTGCC	0.468			T	PDGFRB	MPD																																	uc001wym.2		NA		Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6						c.(1957-1959)AAC>TAC		ninein isoform 5							66.0	71.0	69.0					14																	51227017		2199	4292	6491	SO:0001583	missense	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51227017T>A	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.1957A>T	14.37:g.51227017T>A	ENSP00000371472:p.Asn653Tyr					NIN_uc001wyi.2_Missense_Mutation_p.N653Y|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.N653Y|NIN_uc010tqp.1_Missense_Mutation_p.N659Y|NIN_uc001wyo.2_Missense_Mutation_p.N653Y	p.N653Y	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN			17	2148	-	all_epithelial(31;0.00244)|Breast(41;0.127)		653			Potential.		A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	c.1957A>T	CCDS32079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.06|12.06	1.823979|1.823979	0.32237|0.32237	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000530997;ENST00000389869;ENST00000530853|ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196	T;T|T;T;T;T;T;T	0.16897|0.12361	2.31;2.31|3.48;2.69;2.7;3.21;3.21;3.21	5.93|5.93	-2.81|-2.81	0.05805|0.05805	.|.	.|1.691790	.|0.02454	.|N	.|0.085927	T|T	0.21881|0.21881	0.0527|0.0527	L|L	0.51422|0.51422	1.61|1.61	0.09310|0.09310	N|N	1|1	.|D;D;D;B;P	.|0.57571	.|0.98;0.979;0.98;0.168;0.944	.|P;P;P;B;P	.|0.53593	.|0.532;0.648;0.73;0.034;0.461	T|T	0.35051|0.35051	-0.9804|-0.9804	7|10	0.54805|0.59425	T|D	0.06|0.04	0.0177|0.0177	6.4912|6.4912	0.22117|0.22117	0.0:0.321:0.3653:0.3136|0.0:0.321:0.3653:0.3136	.|.	.|659;653;653;653;653	.|Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7	.|.;.;NIN_HUMAN;.;.	V|Y	143|653;636;653;653;659;653;653;653	ENSP00000374519:E143V;ENSP00000433717:E143V|ENSP00000245441:N653Y;ENSP00000374518:N653Y;ENSP00000371474:N653Y;ENSP00000371472:N653Y;ENSP00000324210:N653Y;ENSP00000412391:N653Y	ENSP00000374519:E143V|ENSP00000245441:N653Y	E|N	-|-	2|1	0|0	NIN|NIN	50296767|50296767	0.000000|0.000000	0.05858|0.05858	0.353000|0.353000	0.25747|0.25747	0.011000|0.011000	0.07611|0.07611	-0.143000|-0.143000	0.10296|0.10296	-0.351000|-0.351000	0.08249|0.08249	-0.326000|-0.326000	0.08463|0.08463	GAA|AAC		0.468	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		82	25	0	0	0	0	82	25				
PARP6	56965	broad.mit.edu	37	15	72534499	72534499	+	Splice_Site	SNP	T	T	C			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr15:72534499T>C	ENST00000569795.1	-	22	2391	c.1704A>G	c.(1702-1704)gaA>gaG	p.E568E	PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000260376.7_3'UTR|PARP6_ENST00000287196.9_Splice_Site_p.E568E			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	568	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.						NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						GCTACCTACCTTCACAAAGTG	0.473																																						uc002auc.2		NA																	0					0						c.(1702-1704)GAA>GAG		poly (ADP-ribose) polymerase family, member 6							127.0	117.0	120.0					15																	72534499		1979	4154	6133	SO:0001630	splice_region_variant	56965						NAD+ ADP-ribosyltransferase activity	g.chr15:72534499T>C	AL390093	CCDS10241.2	15q22	2010-02-16			ENSG00000137817	ENSG00000137817		"""Poly (ADP-ribose) polymerases"""	26921	protein-coding gene	gene with protein product						15273990	Standard	XM_005254557		Approved	pART17	uc002auc.3	Q2NL67	OTTHUMG00000133443	ENST00000569795.1:c.1705+1A>G	15.37:g.72534499T>C						PARP6_uc002aua.2_Silent_p.E414E|PARP6_uc002aub.2_RNA|PARP6_uc002aud.3_RNA|PARP6_uc002auf.1_Silent_p.E569E	p.E568E	NM_020214	NP_064599	Q2NL67	PARP6_HUMAN			21	2163	-			568			PARP catalytic.		Q9H7C5|Q9H9X6|Q9HAF3|Q9NPS6|Q9UFG4	Silent	SNP	ENST00000569795.1	37	c.1704A>G	CCDS10241.2																																																																																				0.473	PARP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257315.2	NM_020214	Silent	15	9	0	0	0	0	15	9				
PRKCB	5579	broad.mit.edu	37	16	24196444	24196444	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr16:24196444C>T	ENST00000321728.7	+	14	1721	c.1546C>T	c.(1546-1548)Cag>Tag	p.Q516*	PRKCB_ENST00000303531.7_Nonsense_Mutation_p.Q516*	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	516	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	AATTGCTTATCAGCCCTATGG	0.433																																						uc002dmd.2		NA																	0				ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9						c.(1546-1548)CAG>TAG		protein kinase C, beta isoform 1	Vitamin E(DB00163)						173.0	161.0	165.0					16																	24196444		2197	4300	6497	SO:0001587	stop_gained	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:24196444C>T	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1546C>T	16.37:g.24196444C>T	ENSP00000318315:p.Gln516*					PRKCB_uc002dme.2_Nonsense_Mutation_p.Q516*	p.Q516*	NM_212535	NP_997700	P05771	KPCB_HUMAN			14	1743	+			516			Protein kinase.		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Nonsense_Mutation	SNP	ENST00000321728.7	37	c.1546C>T	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	C	40	8.445779	0.98815	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	.	.	.	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	17.7723	0.88496	0.0:1.0:0.0:0.0	.	.	.	.	X	516	.	ENSP00000305355:Q516X	Q	+	1	0	PRKCB	24103945	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.500000	0.84329	0.650000	0.86243	CAG		0.433	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		5	84	0	0	0	0	5	84				
RBBP6	5930	broad.mit.edu	37	16	24580072	24580072	+	Silent	SNP	A	A	G			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr16:24580072A>G	ENST00000319715.4	+	17	2493	c.2061A>G	c.(2059-2061)aaA>aaG	p.K687K	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Silent_p.K653K	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	687					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TTAGGTCTAAATCTCCCTATA	0.343																																						uc002dmh.2		NA																	0				ovary(3)|pancreas(1)	4						c.(2059-2061)AAA>AAG		retinoblastoma-binding protein 6 isoform 1							71.0	76.0	74.0					16																	24580072		2197	4300	6497	SO:0001819	synonymous_variant	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24580072A>G		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.2061A>G	16.37:g.24580072A>G						RBBP6_uc010vcb.1_Silent_p.K554K|RBBP6_uc002dmi.2_Silent_p.K653K|RBBP6_uc010bxr.2_Intron|RBBP6_uc002dmk.2_Silent_p.K520K	p.K687K	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	17	3101	+			687					Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Silent	SNP	ENST00000319715.4	37	c.2061A>G	CCDS10621.1																																																																																				0.343	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		17	37	0	0	0	0	17	37				
SALL1	6299	broad.mit.edu	37	16	51171062	51171062	+	Silent	SNP	G	G	C			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr16:51171062G>C	ENST00000251020.4	-	3	3969	c.3936C>G	c.(3934-3936)acC>acG	p.T1312T	SALL1_ENST00000440970.1_Silent_p.T1215T|SALL1_ENST00000541611.1_Silent_p.T135T|SALL1_ENST00000566102.1_3'UTR	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1312					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CCACGAAGCGGGTGAAGCGGA	0.567																																					GBM(103;1352 1446 1855 4775 8890)	uc010vgs.1		NA																	0				skin(5)|ovary(3)	8						c.(3934-3936)ACC>ACG		sal-like 1 isoform a							71.0	61.0	64.0					16																	51171062		2198	4300	6498	SO:0001819	synonymous_variant	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51171062G>C	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.3936C>G	16.37:g.51171062G>C						SALL1_uc010vgr.1_Silent_p.T1215T|SALL1_uc010cbv.2_Silent_p.T164T	p.T1312T	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		3	3967	-		all_cancers(37;0.0322)	1312					Q99881|Q9NSC3|Q9P1R0	Silent	SNP	ENST00000251020.4	37	c.3936C>G	CCDS10747.1																																																																																				0.567	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		23	33	0	0	0	0	23	33				
SALL1	6299	broad.mit.edu	37	16	51174418	51174418	+	Missense_Mutation	SNP	G	G	A	rs373471563		TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr16:51174418G>A	ENST00000251020.4	-	2	1748	c.1715C>T	c.(1714-1716)aCg>aTg	p.T572M	SALL1_ENST00000440970.1_Missense_Mutation_p.T475M|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000562674.1_5'Flank	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	572					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGGCTCTTCCGTCTTGATGAA	0.602																																					GBM(103;1352 1446 1855 4775 8890)	uc010vgs.1		NA																	0				skin(5)|ovary(3)	8						c.(1714-1716)ACG>ATG		sal-like 1 isoform a		G	MET/THR,MET/THR	0,4396		0,0,2198	44.0	49.0	47.0		1424,1715	5.3	1.0	16		47	2,8598	3.0+/-9.4	0,2,4298	no	missense,missense	SALL1	NM_001127892.1,NM_002968.2	81,81	0,2,6496	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	475/1228,572/1325	51174418	2,12994	2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51174418G>A	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.1715C>T	16.37:g.51174418G>A	ENSP00000251020:p.Thr572Met					SALL1_uc010vgr.1_Missense_Mutation_p.T475M|SALL1_uc010cbv.2_Intron	p.T572M	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	1746	-		all_cancers(37;0.0322)	572					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.1715C>T	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.201112	0.58234	0.0	2.33E-4	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.06849	3.25;3.26	5.32	5.32	0.75619	.	0.047614	0.85682	D	0.000000	T	0.18383	0.0441	L	0.47716	1.5	0.53688	D	0.999974	D	0.76494	0.999	P	0.53689	0.732	T	0.00203	-1.1924	10	0.62326	D	0.03	.	18.9957	0.92812	0.0:0.0:1.0:0.0	.	572	Q9NSC2	SALL1_HUMAN	M	572;475;536	ENSP00000251020:T572M;ENSP00000407914:T475M	ENSP00000251020:T572M	T	-	2	0	SALL1	49731919	1.000000	0.71417	0.989000	0.46669	0.984000	0.73092	7.054000	0.76649	2.475000	0.83589	0.557000	0.71058	ACG		0.602	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		17	31	0	0	0	0	17	31				
RLTPR	146206	broad.mit.edu	37	16	67682065	67682065	+	Silent	SNP	C	C	A			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr16:67682065C>A	ENST00000334583.6	+	14	1510	c.1182C>A	c.(1180-1182)acC>acA	p.T394T	RLTPR_ENST00000545661.1_Intron	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	394					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GATGGATGACCGGCAGGGCGG	0.687																																						uc002etn.2		NA																	0				breast(1)	1						c.(1180-1182)ACC>ACA		RGD motif, leucine rich repeats, tropomodulin							21.0	24.0	23.0					16																	67682065		2016	4133	6149	SO:0001819	synonymous_variant	146206							g.chr16:67682065C>A	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.1182C>A	16.37:g.67682065C>A						RLTPR_uc010cel.1_Silent_p.T394T|RLTPR_uc010vjr.1_Intron	p.T394T	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	14	1302	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	394			LRR 7.		B8X2Z3	Silent	SNP	ENST00000334583.6	37	c.1182C>A	CCDS45513.1																																																																																				0.687	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838		10	11	1	0	3.07e-06	1.12e-05	10	11				
SLC7A6OS	84138	broad.mit.edu	37	16	68336300	68336300	+	Silent	SNP	T	T	C			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr16:68336300T>C	ENST00000263997.6	-	4	801	c.783A>G	c.(781-783)ggA>ggG	p.G261G		NM_032178.2	NP_115554.2	Q96CW6	S7A6O_HUMAN	solute carrier family 7, member 6 opposite strand	261					hematopoietic progenitor cell differentiation (GO:0002244)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)		AATCCTCATCTCCATCACTGC	0.517																																						uc002evw.1		NA																	0				ovary(1)	1						c.(781-783)GGA>GGG		solute carrier family 7, member 6 opposite							287.0	223.0	245.0					16																	68336300		2198	4300	6498	SO:0001819	synonymous_variant	84138				protein transport	cytoplasm|nucleus		g.chr16:68336300T>C		CCDS10865.1	16q22.1	2010-03-11			ENSG00000103061	ENSG00000103061			25807	protein-coding gene	gene with protein product							Standard	NM_032178		Approved	FLJ13291	uc002evw.2	Q96CW6	OTTHUMG00000137558	ENST00000263997.6:c.783A>G	16.37:g.68336300T>C							p.G261G	NM_032178	NP_115554	Q96CW6	S7A6O_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)	4	802	-		Ovarian(137;0.192)	261					Q8TCZ3|Q9H8R8	Silent	SNP	ENST00000263997.6	37	c.783A>G	CCDS10865.1																																																																																				0.517	SLC7A6OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268894.3	NM_032178		80	100	0	0	0	0	80	100				
GSE1	23199	broad.mit.edu	37	16	85687968	85687969	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr16:85687968_85687969GC>TT	ENST00000253458.7	+	4	687_688	c.511_512GC>TT	c.(511-513)GCc>TTc	p.A171F	GSE1_ENST00000405402.2_Missense_Mutation_p.A67F|GSE1_ENST00000393243.1_Missense_Mutation_p.A98F	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	171																	AGGGGGACCAGCCATCCCCTCG	0.668																																						uc002fix.2		NA																	0				large_intestine(3)|ovary(1)|skin(1)	5						c.(511-513)GCC>TTC		genetic suppressor element 1 isoform 1																																				SO:0001583	missense	23199						protein binding	g.chr16:85687968_85687969GC>TT	D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"""genetic suppressor element 1"""		"""KIAA0182"", ""Gse1 coiled-coil protein homolog (mouse)"""	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	Exception_encountered	16.37:g.85687968_85687969delinsTT	ENSP00000253458:p.Ala171Phe					KIAA0182_uc002fiw.2_Missense_Mutation_p.A67F|KIAA0182_uc002fiy.2_Missense_Mutation_p.A98F	p.A171F	NM_014615	NP_055430	Q14687	GSE1_HUMAN			4	585_586	+			171					D3DUM4|Q8IY61|Q96GA4|Q9BW09	Missense_Mutation	DNP	ENST00000253458.7	37	c.511_512GC>TT	CCDS10952.1																																																																																				0.668	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615		8	17	0	0	0	0	8	17				
POLR2A	5430	broad.mit.edu	37	17	7404147	7404147	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr17:7404147A>G	ENST00000322644.6	+	11	2260	c.1861A>G	c.(1861-1863)Atc>Gtc	p.I621V		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	621					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				TTACAAGCACATCTCTCCTGG	0.537																																						uc002ghf.3		NA																	0				pancreas(1)	1						c.(1861-1863)ATC>GTC		DNA-directed RNA polymerase II A							144.0	128.0	134.0					17																	7404147		2203	4300	6503	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7404147A>G			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.1861A>G	17.37:g.7404147A>G	ENSP00000314949:p.Ile621Val						p.I621V	NM_000937	NP_000928	P24928	RPB1_HUMAN			11	2095	+		Prostate(122;0.173)	621					A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.1861A>G	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	A	17.21	3.330763	0.60853	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	T	0.67345	-0.26	5.96	5.96	0.96718	RNA polymerase Rpb1, domain 3 (1);	0.000000	0.85682	D	0.000000	T	0.69575	0.3126	M	0.78637	2.42	0.80722	D	1	B	0.27951	0.195	B	0.28011	0.085	T	0.70543	-0.4843	10	0.72032	D	0.01	.	15.4047	0.74868	1.0:0.0:0.0:0.0	.	621	P24928	RPB1_HUMAN	V	577;621	ENSP00000314949:I621V	ENSP00000314949:I621V	I	+	1	0	SLC35G6	7344871	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.649000	0.91067	2.283000	0.76528	0.477000	0.44152	ATC		0.537	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		31	87	0	0	0	0	31	87				
TP53	7157	broad.mit.edu	37	17	7578524	7578524	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr17:7578524G>A	ENST00000269305.4	-	5	595	c.406C>T	c.(406-408)Caa>Taa	p.Q136*	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q136*|TP53_ENST00000420246.2_Nonsense_Mutation_p.Q136*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q136*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q136*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q136*	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	136	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Q -> E (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Q136*(34)|p.0?(8)|p.C135fs*9(3)|p.Q136E(3)|p.N131fs*27(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.Q136K(1)|p.S127_Q136del10(1)|p.V73fs*9(1)|p.Q43*(1)|p.Y126fs*11(1)|p.Q4*(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.Q136_K139delQLAK(1)|p.Q136fs*34(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(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)	TTGGCCAGTTGGCAAAACATC	0.562		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		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		67	Substitution - Nonsense(36)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(5)|Substitution - Missense(4)|Insertion - In frame(2)|Insertion - Frameshift(1)|Complex - deletion inframe(1)	p.Q136*(28)|p.0?(7)|p.Q136H(5)|p.Q136Q(4)|p.Q136P(3)|p.Q136E(3)|p.N131fs*27(2)|p.Q136fs*13(2)|p.Q136R(2)|p.Q136fs*34(2)|p.V73fs*9(1)|p.F134_T140>S(1)|p.C135_T140delCQLAKT(1)|p.Q136K(1)|p.Y126fs*11(1)|p.C135_A138delCQLA(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.Q136_K139delQLAK(1)|p.C135_Q136insX(1)|p.C135_Q136insXXXXXX(1)	upper_aerodigestive_tract(9)|ovary(9)|urinary_tract(8)|central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(6)|stomach(5)|breast(4)|bone(4)|large_intestine(3)|oesophagus(3)|skin(3)|lung(3)|soft_tissue(1)|endometrium(1)|pancreas(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	CM971503	TP53	M		c.(406-408)CAA>TAA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							52.0	52.0	52.0					17																	7578524		2203	4300	6503	SO:0001587	stop_gained	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578524G>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.406C>T	17.37:g.7578524G>A	ENSP00000269305:p.Gln136*	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_Nonsense_Mutation_p.Q136*|TP53_uc002gih.2_Nonsense_Mutation_p.Q136*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.Q4*|TP53_uc010cng.1_Nonsense_Mutation_p.Q4*|TP53_uc002gii.1_Nonsense_Mutation_p.Q4*|TP53_uc010cnh.1_Nonsense_Mutation_p.Q136*|TP53_uc010cni.1_Nonsense_Mutation_p.Q136*|TP53_uc002gij.2_Nonsense_Mutation_p.Q136*|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Nonsense_Mutation_p.Q43*|TP53_uc002gio.2_Nonsense_Mutation_p.Q4*|TP53_uc010vug.1_Nonsense_Mutation_p.Q97*	p.Q136*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	600	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	136		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> E (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.406C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	34	5.349260	0.95830	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-25.5387	17.2272	0.86973	0.0:0.0:1.0:0.0	.	.	.	.	X	136;136;136;136;136;136;125;43;4;43;4;136	.	ENSP00000269305:Q136X	Q	-	1	0	TP53	7519249	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	9.809000	0.99208	2.733000	0.93635	0.655000	0.94253	CAA		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		64	7	0	0	0	0	64	7				
MYH4	4622	broad.mit.edu	37	17	10364246	10364246	+	Silent	SNP	T	T	A			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr17:10364246T>A	ENST00000255381.2	-	12	1244	c.1134A>T	c.(1132-1134)ccA>ccT	p.P378P	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	378	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CCGTGCCATCTGGCTCTGCCT	0.478																																						uc002gmn.2		NA																	0				ovary(10)|skin(2)|central_nervous_system(1)	13						c.(1132-1134)CCA>CCT		myosin, heavy polypeptide 4, skeletal muscle							189.0	166.0	174.0					17																	10364246		2203	4300	6503	SO:0001819	synonymous_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10364246T>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.1134A>T	17.37:g.10364246T>A						uc002gml.1_Intron	p.P378P	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			12	1245	-			378			Myosin head-like.			Silent	SNP	ENST00000255381.2	37	c.1134A>T	CCDS11154.1																																																																																				0.478	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		30	69	0	0	0	0	30	69				
USP22	23326	broad.mit.edu	37	17	20911270	20911270	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr17:20911270G>C	ENST00000261497.4	-	9	1346	c.1143C>G	c.(1141-1143)atC>atG	p.I381M	USP22_ENST00000455117.2_Intron|USP22_ENST00000537526.2_Missense_Mutation_p.I369M	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	381	USP.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|embryo development (GO:0009790)|histone deubiquitination (GO:0016578)|histone H4 acetylation (GO:0043967)|histone ubiquitination (GO:0016574)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deubiquitination (GO:0016579)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	SAGA complex (GO:0000124)	enzyme binding (GO:0019899)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|transcription coactivator activity (GO:0003713)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						CGCTGCACTTGATCTTGGCGC	0.488																																						uc002gym.3		NA																	0				lung(1)	1						c.(1141-1143)ATC>ATG		ubiquitin thiolesterase 22							91.0	85.0	87.0					17																	20911270		1935	4159	6094	SO:0001583	missense	23326				cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr17:20911270G>C	AB028986	CCDS42285.1	17p11.2	2006-11-24	2005-08-08		ENSG00000124422	ENSG00000124422		"""Ubiquitin-specific peptidases"""	12621	protein-coding gene	gene with protein product		612116	"""ubiquitin specific protease 22"", ""ubiquitin specific peptidase 3-like"""	USP3L		12838346	Standard	NM_015276		Approved	KIAA1063	uc002gym.4	Q9UPT9	OTTHUMG00000133621	ENST00000261497.4:c.1143C>G	17.37:g.20911270G>C	ENSP00000261497:p.Ile381Met					USP22_uc002gyn.3_Missense_Mutation_p.I369M|USP22_uc002gyl.3_Missense_Mutation_p.I276M	p.I381M	NM_015276	NP_056091	Q9UPT9	UBP22_HUMAN			9	1347	-			381					A0JNS3|Q2NLE2|Q6MZY4|Q8TBS8|Q96IW5	Missense_Mutation	SNP	ENST00000261497.4	37	c.1143C>G	CCDS42285.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.359481	0.61403	.	.	ENSG00000124422	ENST00000455117;ENST00000537526;ENST00000261497	T;T	0.09255	3.0;3.0	4.06	4.06	0.47325	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.31857	0.0810	M	0.69358	2.11	0.54753	D	0.999982	D;D	0.89917	1.0;1.0	D;D	0.83275	0.995;0.996	T	0.11372	-1.0590	10	0.62326	D	0.03	.	16.615	0.84904	0.0:0.0:1.0:0.0	.	369;381	Q9UPT9-2;Q9UPT9	.;UBP22_HUMAN	M	449;369;381	ENSP00000440950:I369M;ENSP00000261497:I381M	ENSP00000261497:I381M	I	-	3	3	USP22	20851862	1.000000	0.71417	0.998000	0.56505	0.860000	0.49131	4.549000	0.60726	1.996000	0.58369	0.655000	0.94253	ATC		0.488	USP22-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444169.1			33	33	0	0	0	0	33	33				
CCL1	6346	broad.mit.edu	37	17	32688843	32688843	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr17:32688843T>G	ENST00000225842.3	-	2	218	c.149A>C	c.(148-150)tAc>tCc	p.Y50S		NM_002981.1	NP_002972.1	P22362	CCL1_HUMAN	chemokine (C-C motif) ligand 1	50					cell chemotaxis (GO:0060326)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|immune response (GO:0006955)|signal transduction (GO:0007165)|viral process (GO:0016032)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)						Ovarian(249;0.0443)|Breast(31;0.133)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)		GGTATTTCTGTAACACAGGAT	0.493											OREG0024322	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002hid.1		NA																	0					0						c.(148-150)TAC>TCC		small inducible cytokine A1 precursor							166.0	164.0	165.0					17																	32688843		2203	4300	6503	SO:0001583	missense	6346				cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction	extracellular space	chemokine activity	g.chr17:32688843T>G	M57506	CCDS11282.1	17q11.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000108702	ENSG00000108702		"""Endogenous ligands"""	10609	protein-coding gene	gene with protein product	"""inflammatory cytokine I-309"", ""T lymphocyte-secreted protein I-309"""	182281	"""small inducible cytokine A1 (I-309, homologous to mouse Tca-3)"""	SCYA1		2212659, 10409433	Standard	NM_002981		Approved	I-309, TCA3, P500, SISe	uc002hid.1	P22362	OTTHUMG00000132888	ENST00000225842.3:c.149A>C	17.37:g.32688843T>G	ENSP00000225842:p.Tyr50Ser		OREG0024322	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	834		p.Y50S	NM_002981	NP_002972	P22362	CCL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)	2	221	-		Ovarian(249;0.0443)|Breast(31;0.133)	50					B2R5G9|Q2M309	Missense_Mutation	SNP	ENST00000225842.3	37	c.149A>C	CCDS11282.1	.	.	.	.	.	.	.	.	.	.	T	12.74	2.028145	0.35797	.	.	ENSG00000108702	ENST00000225842	T	0.08984	3.03	4.4	2.16	0.27623	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.360226	0.23896	N	0.043487	T	0.14743	0.0356	.	.	.	0.09310	N	1	D	0.58970	0.984	P	0.57057	0.812	T	0.07868	-1.0750	9	0.87932	D	0	-24.6343	3.7711	0.08642	0.1876:0.1007:0.0:0.7117	.	50	P22362	CCL1_HUMAN	S	50	ENSP00000225842:Y50S	ENSP00000225842:Y50S	Y	-	2	0	CCL1	29712956	0.300000	0.24435	0.009000	0.14445	0.000000	0.00434	1.073000	0.30691	0.448000	0.26722	-1.175000	0.01729	TAC		0.493	CCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256385.2	NM_002981		59	110	0	0	0	0	59	110				
TMEM132E	124842	broad.mit.edu	37	17	32953362	32953362	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr17:32953362G>A	ENST00000321639.5	+	2	612	c.284G>A	c.(283-285)gGg>gAg	p.G95E		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	95						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GTCTCTCTGGGGCCCTTCAGC	0.697																																						uc002hif.2		NA																	0				central_nervous_system(1)	1						c.(283-285)GGG>GAG		transmembrane protein 132E precursor							27.0	25.0	26.0					17																	32953362		2203	4300	6503	SO:0001583	missense	124842					integral to membrane		g.chr17:32953362G>A	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.284G>A	17.37:g.32953362G>A	ENSP00000316532:p.Gly95Glu						p.G95E	NM_207313	NP_997196	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	2	612	+			95			Extracellular (Potential).		Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	c.284G>A	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722602	0.89298	.	.	ENSG00000181291	ENST00000321639	T	0.12879	2.64	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.41465	0.1160	M	0.80982	2.52	0.54753	D	0.999986	D	0.89917	1.0	D	0.97110	1.0	T	0.43475	-0.9389	10	0.72032	D	0.01	-33.6424	17.0902	0.86620	0.0:0.0:1.0:0.0	.	95	Q6IEE7	T132E_HUMAN	E	95	ENSP00000316532:G95E	ENSP00000316532:G95E	G	+	2	0	TMEM132E	29977475	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.533000	0.98059	2.255000	0.74692	0.549000	0.68633	GGG		0.697	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		8	24	0	0	0	0	8	24				
PGAP3	93210	broad.mit.edu	37	17	37842182	37842182	+	Missense_Mutation	SNP	T	T	A	rs527343773		TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr17:37842182T>A	ENST00000300658.4	-	2	364	c.272A>T	c.(271-273)cAt>cTt	p.H91L	PGAP3_ENST00000429199.2_Missense_Mutation_p.H91L|PGAP3_ENST00000579146.1_Missense_Mutation_p.H91L|ERBB2_ENST00000584601.1_5'Flank|ERBB2_ENST00000406381.2_5'Flank|ERBB2_ENST00000578199.1_5'Flank|PGAP3_ENST00000378011.4_Missense_Mutation_p.H91L	NM_033419.3	NP_219487.3	Q96FM1	PGAP3_HUMAN	post-GPI attachment to proteins 3	91					GPI anchor biosynthetic process (GO:0006506)|GPI anchor metabolic process (GO:0006505)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	hydrolase activity, acting on ester bonds (GO:0016788)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						CACCTTGCCATGGAACTGAGG	0.537																																						uc002hsj.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(271-273)CAT>CTT		per1-like domain containing 1 precursor							168.0	103.0	125.0					17																	37842182		2203	4300	6503	SO:0001583	missense	93210				GPI anchor biosynthetic process	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	hydrolase activity, acting on ester bonds	g.chr17:37842182T>A	AB088396	CCDS32641.1	17q21.2	2009-06-02	2009-06-02	2009-06-02		ENSG00000161395			23719	protein-coding gene	gene with protein product	"""post-GPI attachment to proteins 3"""	611801	"""per1-like domain containing 1"""	PERLD1		15010812, 17021251, 17314402	Standard	NM_001291728		Approved	MGC9753, CAB2, PP1498, PER1	uc002hsj.3	Q96FM1		ENST00000300658.4:c.272A>T	17.37:g.37842182T>A	ENSP00000300658:p.His91Leu					ERBB2_uc002hsm.2_5'Flank|ERBB2_uc010cwa.2_5'Flank|PGAP3_uc010cvy.2_5'Flank|PGAP3_uc010wej.1_Missense_Mutation_p.H91L|PGAP3_uc002hsk.2_Missense_Mutation_p.H91L|PGAP3_uc010cvz.2_Missense_Mutation_p.H91L|ERBB2_uc002hsl.2_5'Flank	p.H91L	NM_033419	NP_219487	Q96FM1	PGAP3_HUMAN			2	315	-			91			Lumenal (Potential).		B4DGK7|Q86Z03|Q8NBJ8	Missense_Mutation	SNP	ENST00000300658.4	37	c.272A>T	CCDS32641.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.729053	0.89390	.	.	ENSG00000161395	ENST00000300658;ENST00000378011;ENST00000309862;ENST00000429199	.	.	.	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	D	0.83926	0.5360	M	0.90252	3.1	0.80722	D	1	D;D;D;D	0.76494	0.999;0.996;0.998;0.998	D;D;D;D	0.74348	0.969;0.983;0.944;0.968	D	0.87350	0.2337	9	0.72032	D	0.01	-11.2226	13.6754	0.62451	0.0:0.0:0.0:1.0	.	91;35;91;91	B4DGK7;B4DVJ3;Q96FM1-2;Q96FM1	.;.;.;PGAP3_HUMAN	L	91;91;35;91	.	ENSP00000300658:H91L	H	-	2	0	PGAP3	35095708	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.865000	0.75500	1.885000	0.54596	0.459000	0.35465	CAT		0.537	PGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444825.2	NM_033419		13	17	0	0	0	0	13	17				
B4GALNT2	124872	broad.mit.edu	37	17	47243530	47243530	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr17:47243530C>T	ENST00000300404.2	+	9	1248	c.1189C>T	c.(1189-1191)Ctc>Ttc	p.L397F	B4GALNT2_ENST00000393354.2_Missense_Mutation_p.L337F|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.L311F	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	397					lipid glycosylation (GO:0030259)|negative regulation of cell-cell adhesion (GO:0022408)|protein glycosylation (GO:0006486)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			CAAATACGTTCTCTGGGTGGA	0.473																																					GBM(124;244 1635 8663 18097 33175)	uc002ion.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(1189-1191)CTC>TTC		beta-1,4-N-acetyl-galactosaminyl transferase 2							126.0	104.0	112.0					17																	47243530		2203	4300	6503	SO:0001583	missense	124872				lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity	g.chr17:47243530C>T	AJ517770	CCDS11544.1, CCDS54139.1, CCDS54140.1	17q21.33	2013-02-22	2006-01-08	2006-01-08	ENSG00000167080	ENSG00000167080	2.4.1.-	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	24136	protein-coding gene	gene with protein product		111730	"""UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase"""	GALGT2		8782649, 12678917	Standard	NM_153446		Approved	Sda, Cad	uc002ion.2	Q8NHY0	OTTHUMG00000161307	ENST00000300404.2:c.1189C>T	17.37:g.47243530C>T	ENSP00000300404:p.Leu397Phe					B4GALNT2_uc010wlt.1_Missense_Mutation_p.L311F|B4GALNT2_uc010wlu.1_Missense_Mutation_p.L337F	p.L397F	NM_153446	NP_703147	Q8NHY0	B4GN2_HUMAN	all cancers(6;0.000316)		9	1248	+			397			Lumenal (Potential).		B4DZE4|Q14CP1|Q86Y40	Missense_Mutation	SNP	ENST00000300404.2	37	c.1189C>T	CCDS11544.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.753487	0.89753	.	.	ENSG00000167080	ENST00000504681;ENST00000393354;ENST00000300404	T;T;T	0.79352	-1.26;-1.26;-1.26	5.8	4.82	0.62117	Glycosyl transferase, family 2 (1);	0.000000	0.64402	D	0.000006	D	0.87136	0.6102	M	0.79123	2.44	0.52501	D	0.999959	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	D	0.86794	0.1987	10	0.46703	T	0.11	-27.922	14.1342	0.65276	0.0:0.9253:0.0:0.0747	.	337;397	Q8NHY0-2;Q8NHY0	.;B4GN2_HUMAN	F	311;337;397	ENSP00000425510:L311F;ENSP00000377022:L337F;ENSP00000300404:L397F	ENSP00000300404:L397F	L	+	1	0	B4GALNT2	44598529	1.000000	0.71417	0.982000	0.44146	0.985000	0.73830	5.320000	0.65841	2.732000	0.93576	0.655000	0.94253	CTC		0.473	B4GALNT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364477.1	NM_153446		27	51	0	0	0	0	27	51				
WFIKKN2	124857	broad.mit.edu	37	17	48916922	48916922	+	Silent	SNP	C	C	A			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr17:48916922C>A	ENST00000311378.4	+	2	801	c.273C>A	c.(271-273)gcC>gcA	p.A91A	WFIKKN2_ENST00000426127.1_5'UTR|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	91	WAP. {ECO:0000255|PROSITE- ProRule:PRU00722}.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			GCGTGGCGGCCCGCTACATGG	0.582																																						uc002isv.3		NA																	0				ovary(2)|skin(1)	3						c.(271-273)GCC>GCA		WFIKKN2 protein							47.0	49.0	48.0					17																	48916922		2203	4300	6503	SO:0001819	synonymous_variant	124857					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity	g.chr17:48916922C>A	AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"""Immunoglobulin superfamily / I-set domain containing"", ""WAP four-disulfide core domain containing"""	30916	protein-coding gene	gene with protein product	"""WAP four-disulfide core domain 20B"""	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.273C>A	17.37:g.48916922C>A						WFIKKN2_uc010dbu.2_5'UTR	p.A91A	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		2	967	+			91			WAP.		Q6UXZ9	Silent	SNP	ENST00000311378.4	37	c.273C>A	CCDS11575.1																																																																																				0.582	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1	NM_175575		14	21	1	0	1.5e-05	5.44e-05	14	21				
KIF2B	84643	broad.mit.edu	37	17	51901863	51901863	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr17:51901863C>A	ENST00000268919.4	+	1	1625	c.1469C>A	c.(1468-1470)cCt>cAt	p.P490H		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	490	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CAGAACAAGCCTCACACCCCA	0.527																																						uc002iua.2		NA																	0				ovary(5)|skin(3)	8						c.(1468-1470)CCT>CAT		kinesin family member 2B							50.0	47.0	48.0					17																	51901863		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51901863C>A	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1469C>A	17.37:g.51901863C>A	ENSP00000268919:p.Pro490His					uc010wna.1_RNA	p.P490H	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			1	1625	+			490					Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.1469C>A	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.163031	0.57476	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.74947	-0.89	5.73	4.76	0.60689	Kinesin, motor domain (3);	0.573036	0.14561	N	0.312073	T	0.67401	0.2889	L	0.40543	1.245	0.25321	N	0.989119	B	0.31077	0.307	B	0.32342	0.144	T	0.61466	-0.7057	10	0.51188	T	0.08	.	12.3026	0.54882	0.0:0.9207:0.0:0.0793	.	490	Q8N4N8	KIF2B_HUMAN	H	490;378	ENSP00000268919:P490H	ENSP00000268919:P490H	P	+	2	0	KIF2B	49256862	0.388000	0.25197	0.007000	0.13788	0.700000	0.40528	4.824000	0.62701	1.552000	0.49463	0.655000	0.94253	CCT		0.527	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		15	27	1	0	2.32e-05	8.38e-05	15	27				
EMILIN2	84034	broad.mit.edu	37	18	2891658	2891658	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr18:2891658C>A	ENST00000254528.3	+	4	1692	c.1533C>A	c.(1531-1533)aaC>aaA	p.N511K		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	511					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		TGACCAATAACACTGGTGCAG	0.527																																						uc002kln.2		NA																	0				skin(2)|ovary(1)	3						c.(1531-1533)AAC>AAA		elastin microfibril interfacer 2 precursor							67.0	71.0	69.0					18																	2891658		2203	4300	6503	SO:0001583	missense	84034				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	g.chr18:2891658C>A	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.1533C>A	18.37:g.2891658C>A	ENSP00000254528:p.Asn511Lys						p.N511K	NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN		READ - Rectum adenocarcinoma(2;0.1)	4	1692	+			511					B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	ENST00000254528.3	37	c.1533C>A	CCDS11828.1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.326743	0.24080	.	.	ENSG00000132205	ENST00000254528	T	0.04156	3.69	5.4	3.59	0.41128	.	1.813950	0.02167	N	0.059371	T	0.04048	0.0113	N	0.19112	0.55	0.09310	N	1	B	0.16396	0.017	B	0.17722	0.019	T	0.45600	-0.9250	10	0.06099	T	0.92	-0.7927	7.1826	0.25780	0.0:0.7111:0.1413:0.1475	.	511	Q9BXX0	EMIL2_HUMAN	K	511	ENSP00000254528:N511K	ENSP00000254528:N511K	N	+	3	2	EMILIN2	2881658	0.008000	0.16893	0.000000	0.03702	0.010000	0.07245	0.687000	0.25407	0.633000	0.30452	0.563000	0.77884	AAC		0.527	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048		36	52	1	0	2.04e-09	7.7e-09	36	52				
MYL12B	103910	broad.mit.edu	37	18	3273065	3273065	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr18:3273065A>G	ENST00000581193.1	+	2	552	c.169A>G	c.(169-171)Atg>Gtg	p.M57V	MYL12B_ENST00000237500.5_Missense_Mutation_p.M57V|MYL12B_ENST00000400175.5_Missense_Mutation_p.M57V|MYL12B_ENST00000584539.1_Missense_Mutation_p.M57V	NM_001144945.1	NP_001138417.1	O14950	ML12B_HUMAN	myosin, light chain 12B, regulatory	57	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				axon guidance (GO:0007411)|muscle contraction (GO:0006936)|regulation of cell shape (GO:0008360)	apical part of cell (GO:0045177)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)|lung(2)	4						TTTGCATGATATGCTTGCTTC	0.343																																						uc010dkl.2		NA																	0					0						c.(169-171)ATG>GTG		myosin regulatory light chain MRCL2 isoform A							194.0	187.0	190.0					18																	3273065		2203	4300	6503	SO:0001583	missense	103910				axon guidance|muscle contraction	cytosol|myosin complex	calcium ion binding	g.chr18:3273065A>G	AY320408	CCDS11831.1	18p11.31	2013-01-10			ENSG00000118680	ENSG00000118680		"""Myosins / Light chain"", ""EF-hand domain containing"""	29827	protein-coding gene	gene with protein product	"""myosin regulatory light chain 2"""	609211				11942626	Standard	NM_033546		Approved	MRLC2	uc002klt.4	O14950	OTTHUMG00000131510	ENST00000581193.1:c.169A>G	18.37:g.3273065A>G	ENSP00000463559:p.Met57Val					MYL12B_uc002klt.3_Missense_Mutation_p.M35V|MYL12B_uc010wyv.1_Missense_Mutation_p.M57V	p.M57V	NM_001144944	NP_001138416	O14950	ML12B_HUMAN			2	328	+			57			EF-hand 1.		D3DUH6|Q13182|Q7Z5Z4	Missense_Mutation	SNP	ENST00000581193.1	37	c.169A>G	CCDS11831.1	.	.	.	.	.	.	.	.	.	.	A	15.30	2.792227	0.50102	.	.	ENSG00000118680	ENST00000237500;ENST00000400177;ENST00000400175;ENST00000400174	T;T	0.70164	-0.46;-0.46	5.55	5.55	0.83447	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.54631	0.1870	N	0.12182	0.205	0.80722	D	1	B	0.31227	0.314	B	0.40199	0.322	T	0.52734	-0.8536	10	0.17369	T	0.5	.	15.9784	0.80089	1.0:0.0:0.0:0.0	.	57	O14950	ML12B_HUMAN	V	57	ENSP00000237500:M57V;ENSP00000383037:M57V	ENSP00000237500:M57V	M	+	1	0	MYL12B	3263065	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.263000	0.95617	2.221000	0.72209	0.528000	0.53228	ATG		0.343	MYL12B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258908.1	NM_033546		98	24	0	0	0	0	98	24				
LAMA1	284217	broad.mit.edu	37	18	6976021	6976021	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr18:6976021G>A	ENST00000389658.3	-	45	6497	c.6404C>T	c.(6403-6405)tCc>tTc	p.S2135F		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2135	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GTTGGTAGAGGAAATCTGAGG	0.453																																						uc002knm.2		NA																	0				ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(6403-6405)TCC>TTC		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						152.0	151.0	152.0					18																	6976021		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6976021G>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.6404C>T	18.37:g.6976021G>A	ENSP00000374309:p.Ser2135Phe					LAMA1_uc010wzj.1_Missense_Mutation_p.S1611F	p.S2135F	NM_005559	NP_005550	P25391	LAMA1_HUMAN			45	6498	-		Colorectal(10;0.172)	2135			Laminin G-like 1.			Missense_Mutation	SNP	ENST00000389658.3	37	c.6404C>T	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.650702	0.47362	.	.	ENSG00000101680	ENST00000389658	T	0.49432	0.78	5.64	5.64	0.86602	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin II (1);	0.324668	0.30630	N	0.009208	T	0.54727	0.1876	M	0.68317	2.08	0.20975	N	0.999812	P	0.49185	0.92	P	0.52109	0.69	T	0.54820	-0.8236	10	0.44086	T	0.13	.	9.2256	0.37405	0.0729:0.0:0.7812:0.1459	.	2135	P25391	LAMA1_HUMAN	F	2135	ENSP00000374309:S2135F	ENSP00000374309:S2135F	S	-	2	0	LAMA1	6966021	0.904000	0.30761	0.157000	0.22605	0.533000	0.34776	3.630000	0.54273	2.817000	0.96982	0.643000	0.83706	TCC		0.453	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		5	54	0	0	0	0	5	54				
POTEC	388468	broad.mit.edu	37	18	14543019	14543019	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr18:14543019T>C	ENST00000358970.5	-	1	126	c.127A>G	c.(127-129)Atg>Gtg	p.M43V	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	43										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAAGTGCCCATGTTGCTCTTG	0.587																																						uc010dln.2		NA																	0				skin(3)	3						c.(127-129)ATG>GTG		ANKRD26-like family B, member 2							80.0	72.0	74.0					18																	14543019		692	1591	2283	SO:0001583	missense	388468							g.chr18:14543019T>C	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.127A>G	18.37:g.14543019T>C	ENSP00000351856:p.Met43Val					POTEC_uc010xaj.1_RNA	p.M43V	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN			1	581	-			43						Missense_Mutation	SNP	ENST00000358970.5	37	c.127A>G	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	t	0.001	-3.398072	0.00014	.	.	ENSG00000183206	ENST00000358970;ENST00000389891	T	0.21191	2.02	0.722	-1.44	0.08856	.	.	.	.	.	T	0.04182	0.0116	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23726	-1.0180	8	0.02654	T	1	.	.	.	.	.	43	B2RU33	POTEC_HUMAN	V	43	ENSP00000351856:M43V	ENSP00000351856:M43V	M	-	1	0	POTEC	14533019	0.000000	0.05858	0.001000	0.08648	0.062000	0.15995	-1.858000	0.01659	-1.720000	0.01380	-1.448000	0.01049	ATG		0.587	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		4	149	0	0	0	0	4	149				
SLC14A2	8170	broad.mit.edu	37	18	43224005	43224005	+	Missense_Mutation	SNP	C	C	T	rs139770269		TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr18:43224005C>T	ENST00000255226.6	+	10	2047	c.1231C>T	c.(1231-1233)Ctc>Ttc	p.L411F	SLC14A2_ENST00000586448.1_Missense_Mutation_p.L411F|RP11-116O18.1_ENST00000590535.1_RNA	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	411					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CATCTTCCTGCTCCTGACGAC	0.547																																						uc010dnj.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(1231-1233)CTC>TTC		solute carrier family 14 (urea transporter),		C	PHE/LEU,PHE/LEU	1,4405	2.1+/-5.4	0,1,2202	182.0	176.0	178.0		1231,1231	4.7	1.0	18	dbSNP_134	178	0,8600		0,0,4300	no	missense,missense	SLC14A2	NM_001242692.1,NM_007163.3	22,22	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	411/921,411/921	43224005	1,13005	2203	4300	6503	SO:0001583	missense	8170					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	g.chr18:43224005C>T	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.1231C>T	18.37:g.43224005C>T	ENSP00000255226:p.Leu411Phe					SLC14A2_uc002lbb.2_Missense_Mutation_p.L411F|SLC14A2_uc002lbe.2_Missense_Mutation_p.L411F	p.L411F	NM_007163	NP_009094	Q15849	UT2_HUMAN			11	1552	+			411			Helical; (Potential).		A8K8Q7|Q2TBD6|Q96PH5	Missense_Mutation	SNP	ENST00000255226.6	37	c.1231C>T	CCDS11924.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.188936	0.78789	2.27E-4	0.0	ENSG00000132874	ENST00000255226	T	0.57907	0.37	5.56	4.69	0.59074	.	0.000000	0.64402	D	0.000001	T	0.72285	0.3441	M	0.85777	2.775	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75007	-0.3469	10	0.59425	D	0.04	-32.2544	10.1123	0.42570	0.0:0.8514:0.0:0.1486	.	411	Q15849	UT2_HUMAN	F	411	ENSP00000255226:L411F	ENSP00000255226:L411F	L	+	1	0	SLC14A2	41478003	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.438000	0.44837	2.629000	0.89072	0.655000	0.94253	CTC		0.547	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			73	103	0	0	0	0	73	103				
MYO5B	4645	broad.mit.edu	37	18	47390534	47390534	+	Missense_Mutation	SNP	G	G	A	rs199930567		TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr18:47390534G>A	ENST00000285039.7	-	28	4119	c.3820C>T	c.(3820-3822)Cgg>Tgg	p.R1274W	MYO5B_ENST00000587895.1_5'UTR|MYO5B_ENST00000324581.6_Missense_Mutation_p.R415W	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1274					endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GCGAGTCGCCGCTGGTCGGCG	0.617																																						uc002leb.2		NA																	0				ovary(2)|skin(2)|central_nervous_system(1)	5						c.(3820-3822)CGG>TGG		myosin VB							32.0	36.0	35.0					18																	47390534		1987	4168	6155	SO:0001583	missense	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47390534G>A	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.3820C>T	18.37:g.47390534G>A	ENSP00000285039:p.Arg1274Trp					MYO5B_uc002lea.2_Missense_Mutation_p.R415W	p.R1274W	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	28	4108	-			1274					B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	c.3820C>T	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.427781	0.62733	.	.	ENSG00000167306	ENST00000285039;ENST00000324581	T;T	0.04970	3.53;3.52	5.29	3.29	0.37713	.	0.413681	0.23881	N	0.043642	T	0.06735	0.0172	L	0.36672	1.1	0.48185	D	0.999604	P;P	0.49185	0.592;0.92	B;B	0.40741	0.339;0.28	T	0.30416	-0.9979	10	0.72032	D	0.01	.	13.7826	0.63091	0.0:0.0:0.7473:0.2527	.	1274;415	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	W	1274;415	ENSP00000285039:R1274W;ENSP00000315531:R415W	ENSP00000285039:R1274W	R	-	1	2	MYO5B	45644532	1.000000	0.71417	0.999000	0.59377	0.777000	0.43975	3.727000	0.54984	2.472000	0.83506	0.561000	0.74099	CGG		0.617	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			23	31	0	0	0	0	23	31				
MEX3D	399664	broad.mit.edu	37	19	1556345	1556345	+	Silent	SNP	G	G	A			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr19:1556345G>A	ENST00000402693.4	-	2	1172	c.1173C>T	c.(1171-1173)cgC>cgT	p.R391R	AC027307.1_ENST00000410788.1_RNA|AC027307.2_ENST00000581992.1_RNA|MEX3D_ENST00000388824.6_Silent_p.R391R	NM_203304.3	NP_976049.3	Q86XN8	MEX3D_HUMAN	mex-3 RNA binding family member D	391					mRNA destabilization (GO:0061157)|mRNA localization resulting in posttranscriptional regulation of gene expression (GO:0010609)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(1)|lung(3)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGTGTCCCCGCGGAGGCCGG	0.801																																						uc010dsn.2		NA																	0				lung(1)	1						c.(1171-1173)CGC>CGT		ring finger and KH domain containing 1							3.0	4.0	3.0					19																	1556345		959	2344	3303	SO:0001819	synonymous_variant	399664				mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis	nucleus|perinuclear region of cytoplasm	AU-rich element binding|zinc ion binding	g.chr19:1556345G>A	AB107353	CCDS32865.2	19p13.3	2013-08-21	2013-08-21	2007-07-18	ENSG00000181588	ENSG00000181588		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	16734	protein-coding gene	gene with protein product	"""bcl-2 ARE RNA binding protein"""	611009	"""ring finger and KH domain containing 1"", ""mex-3 homolog D (C. elegans)"""	RKHD1		17267406	Standard	NM_203304		Approved	Tino, KIAA2031, OK/SW-cl.4, RNF193	uc010dsn.3	Q86XN8	OTTHUMG00000150369	ENST00000402693.4:c.1173C>T	19.37:g.1556345G>A							p.R391R	NM_203304	NP_976049	Q86XN8	MEX3D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	1173	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	391					A0PJL8|A1L023|E9PAL6|Q71M49	Silent	SNP	ENST00000402693.4	37	c.1173C>T	CCDS32865.2																																																																																				0.801	MEX3D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317870.2	NM_203304		8	7	0	0	0	0	8	7				
MUC16	94025	broad.mit.edu	37	19	8993495	8993495	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr19:8993495C>T	ENST00000397910.4	-	66	41797	c.41594G>A	c.(41593-41595)cGc>cAc	p.R13865H	MUC16_ENST00000380951.5_Missense_Mutation_p.R506H	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13868	SEA 12. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGGTCAGGGCGGTGGGTGCA	0.592																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(41593-41595)CGC>CAC		mucin 16							74.0	73.0	73.0					19																	8993495		1976	4147	6123	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8993495C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.41594G>A	19.37:g.8993495C>T	ENSP00000381008:p.Arg13865His					MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.R682H|MUC16_uc010xki.1_RNA	p.R13865H	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			66	41798	-			13868	Missing (in Ref. 3; AAK74120).		Extracellular (Potential).|SEA 12.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.41594G>A	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	11.74|11.74	1.728336|1.728336	0.30593|0.30593	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000380951	.|T;T	.|0.29397	.|1.57;1.57	3.47|3.47	-4.71|-4.71	0.03279|0.03279	.|SEA (1);	.|1.420280	.|0.05293	.|N	.|0.521405	T|T	0.33440|0.33440	0.0863|0.0863	N|N	0.26042|0.26042	0.785|0.785	.|.	.|.	.|.	.|B;D	.|0.71674	.|0.005;0.998	.|B;D	.|0.69824	.|0.002;0.966	T|T	0.45396|0.45396	-0.9264|-0.9264	4|9	.|0.02654	.|T	.|1	.|.	11.5288|11.5288	0.50595|0.50595	0.0:0.6647:0.0:0.3353|0.0:0.6647:0.0:0.3353	.|.	.|21510;13865	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	T|H	705|13865;506	.|ENSP00000381008:R13865H;ENSP00000370338:R506H	.|ENSP00000370338:R506H	A|R	-|-	1|2	0|0	MUC16|MUC16	8854495|8854495	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.042000|0.042000	0.13812|0.13812	-2.463000|-2.463000	0.00996|0.00996	-1.520000|-1.520000	0.01773|0.01773	-0.259000|-0.259000	0.10710|0.10710	GCC|CGC		0.592	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		47	39	0	0	0	0	47	39				
ZNF559	84527	broad.mit.edu	37	19	9452988	9452988	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr19:9452988T>G	ENST00000393883.2	+	6	1509	c.861T>G	c.(859-861)caT>caG	p.H287Q	ZNF559_ENST00000592896.1_3'UTR|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000538743.1_Missense_Mutation_p.H207Q|ZNF559_ENST00000587557.1_Missense_Mutation_p.H351Q|ZNF177_ENST00000446085.4_Intron|CTC-325H20.2_ENST00000592371.1_lincRNA|ZNF177_ENST00000541595.2_Intron|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000603380.1_Missense_Mutation_p.H287Q|ZNF559_ENST00000586255.1_Intron|ZNF177_ENST00000605471.1_Intron|ZNF177_ENST00000602856.1_Intron	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	287					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						TTGCTAAACATATAAGACTTA	0.333																																						uc002mlg.2		NA																	0				ovary(1)	1						c.(859-861)CAT>CAG		zinc finger protein 559							88.0	94.0	92.0					19																	9452988		2203	4300	6503	SO:0001583	missense	84527				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9452988T>G	AL389937	CCDS12211.1, CCDS59349.1, CCDS62531.1, CCDS62532.1	19p13.2	2013-09-20			ENSG00000188321	ENSG00000188321		"""Zinc fingers, C2H2-type"", ""-"""	28197	protein-coding gene	gene with protein product						12477932	Standard	NM_001202406		Approved	MGC13105	uc002mle.4	Q9BR84	OTTHUMG00000179942	ENST00000393883.2:c.861T>G	19.37:g.9452988T>G	ENSP00000377461:p.His287Gln					ZNF559_uc002mlf.2_Missense_Mutation_p.H56Q|ZNF559_uc010dwl.1_Missense_Mutation_p.H56Q|ZNF559_uc010xkn.1_Missense_Mutation_p.H279Q|ZNF559_uc010dwm.1_3'UTR|ZNF559_uc002mle.3_Missense_Mutation_p.H351Q|ZNF559_uc010dwk.1_Missense_Mutation_p.H56Q|ZNF559_uc002mld.2_3'UTR|ZNF559_uc010dwo.1_Intron|ZNF177_uc002mli.2_Intron|ZNF177_uc002mlj.2_Intron	p.H287Q	NM_032497	NP_115886	Q9BR84	ZN559_HUMAN			7	1508	+			287					K7EMG6	Missense_Mutation	SNP	ENST00000393883.2	37	c.861T>G	CCDS12211.1	.	.	.	.	.	.	.	.	.	.	T	12.10	1.835210	0.32421	.	.	ENSG00000188321	ENST00000317221;ENST00000538743;ENST00000393883	T;T	0.28454	1.61;1.61	2.12	1.08	0.20341	.	.	.	.	.	T	0.59266	0.2181	H	0.94264	3.515	0.09310	N	0.999998	D;D;D	0.89917	0.992;1.0;0.966	P;D;B	0.80764	0.51;0.994;0.214	T	0.46952	-0.9154	9	0.87932	D	0	.	4.1428	0.10201	0.0:0.3538:0.0:0.6462	.	287;287;207	B3KPL8;Q9BR84;B4DP29	.;ZN559_HUMAN;.	Q	287;207;287	ENSP00000442832:H207Q;ENSP00000377461:H287Q	ENSP00000325393:H287Q	H	+	3	2	ZNF559	9313988	0.004000	0.15560	0.002000	0.10522	0.015000	0.08874	0.525000	0.22956	0.268000	0.21939	0.374000	0.22700	CAT		0.333	ZNF559-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449021.1	NM_032497		37	62	0	0	0	0	37	62				
QTRT1	81890	broad.mit.edu	37	19	10823850	10823850	+	Silent	SNP	C	C	T	rs139740339	byFrequency	TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr19:10823850C>T	ENST00000250237.5	+	10	1126	c.1116C>T	c.(1114-1116)ttC>ttT	p.F372F		NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	372					queuosine biosynthetic process (GO:0008616)|tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|queuine tRNA-ribosyltransferase activity (GO:0008479)			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			TCCCGGACTTCGTGCGGGACT	0.657													C|||	9	0.00179712	0.0068	0.0	5008	,	,		16574	0.0		0.0	False		,,,				2504	0.0					uc002mpr.2		NA																	0				skin(1)	1						c.(1114-1116)TTC>TTT		queuine tRNA-ribosyltransferase 1		C		10,4396	15.5+/-35.6	0,10,2193	72.0	70.0	71.0		1116	-2.2	0.3	19	dbSNP_134	71	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous	QTRT1	NM_031209.2		0,12,6491	TT,TC,CC		0.0233,0.227,0.0923		372/404	10823850	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	81890				queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity	g.chr19:10823850C>T	AF302783	CCDS12248.1	19p13.3	2014-06-11	2008-07-31		ENSG00000213339	ENSG00000213339	2.4.2.29		23797	protein-coding gene	gene with protein product	"""tRNA-guanine transglycosylase"""	609615				20354154	Standard	NM_031209		Approved	TGT	uc002mpr.3	Q9BXR0		ENST00000250237.5:c.1116C>T	19.37:g.10823850C>T						DNM2_uc010dxk.2_RNA	p.F372F	NM_031209	NP_112486	Q9BXR0	TGT_HUMAN	Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)		10	1141	+			372					B4DFM7|Q96BQ4|Q9BXQ9	Silent	SNP	ENST00000250237.5	37	c.1116C>T	CCDS12248.1																																																																																				0.657	QTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452086.1	NM_031209		38	48	0	0	0	0	38	48				
CYP4F8	11283	broad.mit.edu	37	19	15733053	15733053	+	RNA	SNP	G	G	C			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr19:15733053G>C	ENST00000441682.2	+	0	611							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						icosanoid metabolic process (GO:0006690)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alkane 1-monooxygenase activity (GO:0018685)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CCTGGCCATGGAGGGCAGCAC	0.587																																						uc002nbi.2		NA																	0				large_intestine(1)	1						c.(550-552)GAG>CAG		cytochrome P450, family 4, subfamily F,							50.0	50.0	50.0					19																	15733053		2197	4300	6497			11283				prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr19:15733053G>C	AF133298	CCDS74303.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186526	ENSG00000186526		"""Cytochrome P450s"""	2648	protein-coding gene	gene with protein product		611545	"""cytochrome P450, subfamily IVF, polypeptide 8"""			10405341	Standard	NM_007253		Approved		uc002nbi.3	P98187	OTTHUMG00000182386		19.37:g.15733053G>C						CYP4F8_uc010xoj.1_Intron	p.E184Q	NM_007253	NP_009184	P98187	CP4F8_HUMAN			8	614	+			184						Missense_Mutation	SNP	ENST00000441682.2	37	c.550G>C		.	.	.	.	.	.	.	.	.	.	.	0.998	-0.691789	0.03303	.	.	ENSG00000186526	ENST00000441682;ENST00000443973	.	.	.	3.29	1.01	0.19927	.	0.743955	0.11961	U	0.512693	T	0.36248	0.0960	.	.	.	.	.	.	B	0.23540	0.087	B	0.30572	0.117	T	0.40813	-0.9543	7	0.42905	T	0.14	.	5.8289	0.18568	0.1195:0.1993:0.6812:0.0	.	184	P98187	CP4F8_HUMAN	Q	183;33	.	ENSP00000409702:E183Q	E	+	1	0	CYP4F8	15594053	0.015000	0.18098	0.001000	0.08648	0.011000	0.07611	1.680000	0.37607	0.194000	0.20326	0.411000	0.27672	GAG		0.587	CYP4F8-201	KNOWN	basic	processed_transcript	processed_transcript		NM_007253		16	27	0	0	0	0	16	27				
MYO9B	4650	broad.mit.edu	37	19	17309083	17309083	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr19:17309083G>A	ENST00000594824.1	+	24	4351	c.4204G>A	c.(4204-4206)Gca>Aca	p.A1402T	MYO9B_ENST00000397274.2_Missense_Mutation_p.A1402T|MYO9B_ENST00000595618.1_Missense_Mutation_p.A1402T			Q13459	MYO9B_HUMAN	myosin IXB	1402	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CCTCCCAGACGCAGGGCTGTC	0.627																																						uc010eak.2		NA																	0				breast(1)	1						c.(4204-4206)GCA>ACA		myosin IXB isoform 1							56.0	69.0	65.0					19																	17309083		1996	4151	6147	SO:0001583	missense	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17309083G>A		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.4204G>A	19.37:g.17309083G>A	ENSP00000471367:p.Ala1402Thr					MYO9B_uc002nfi.2_Missense_Mutation_p.A1402T|MYO9B_uc002nfj.1_Missense_Mutation_p.A1402T|MYO9B_uc002nfl.1_5'UTR	p.A1402T	NM_004145	NP_004136	Q13459	MYO9B_HUMAN			24	4356	+			1402			Tail.		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37	c.4204G>A		.	.	.	.	.	.	.	.	.	.	g	12.48	1.950087	0.34377	.	.	ENSG00000099331	ENST00000397274	D	0.86030	-2.06	4.74	-2.23	0.06930	.	2.100700	0.03193	N	0.173612	T	0.72309	0.3444	L	0.38175	1.15	0.09310	N	1	P;P;B	0.38395	0.629;0.629;0.443	B;B;B	0.29663	0.105;0.105;0.085	T	0.61058	-0.7139	10	0.22109	T	0.4	.	4.3238	0.11031	0.2464:0.0:0.378:0.3756	.	1402;1402;1408	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	T	1402	ENSP00000380444:A1402T	ENSP00000380444:A1402T	A	+	1	0	MYO9B	17170083	0.000000	0.05858	0.002000	0.10522	0.224000	0.24922	-0.511000	0.06321	-0.114000	0.11936	-0.320000	0.08662	GCA		0.627	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			17	37	0	0	0	0	17	37				
UNC13A	23025	broad.mit.edu	37	19	17763482	17763482	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr19:17763482C>A	ENST00000519716.2	-	12	1396	c.1397G>T	c.(1396-1398)cGg>cTg	p.R466L	UNC13A_ENST00000550896.1_Missense_Mutation_p.R466L|UNC13A_ENST00000551649.1_Missense_Mutation_p.R466L|UNC13A_ENST00000252773.7_Missense_Mutation_p.R466L|UNC13A_ENST00000552293.1_Missense_Mutation_p.R466L|UNC13A_ENST00000428389.2_Missense_Mutation_p.R554L	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	466					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TCCTTCTCCCCGGGCCTGCAG	0.572																																						uc002nhd.2		NA																	0				ovary(3)	3						c.(1660-1662)CGG>CTG		unc-13 homolog A							220.0	223.0	222.0					19																	17763482		1949	4140	6089	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17763482C>A	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.1397G>T	19.37:g.17763482C>A	ENSP00000429562:p.Arg466Leu						p.R554L	NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN			13	1661	-			466					E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.1661G>T	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	C	10.57	1.385968	0.25031	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.80994	-1.43;-1.44;-1.43;-1.29;-1.3;-1.43	4.06	4.06	0.47325	.	0.640937	0.11863	U	0.522146	T	0.69682	0.3138	N	0.24115	0.695	0.35688	D	0.814642	B	0.09022	0.002	B	0.09377	0.004	T	0.67213	-0.5727	10	0.27082	T	0.32	-3.9885	13.7484	0.62890	0.0:1.0:0.0:0.0	.	466	Q9UPW8	UN13A_HUMAN	L	466;554;466;466;466;466	ENSP00000429562:R466L;ENSP00000400409:R554L;ENSP00000252773:R466L;ENSP00000447236:R466L;ENSP00000447572:R466L;ENSP00000446831:R466L	ENSP00000252773:R466L	R	-	2	0	UNC13A	17624482	1.000000	0.71417	1.000000	0.80357	0.697000	0.40408	2.345000	0.44018	2.103000	0.63969	0.491000	0.48974	CGG		0.572	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		101	198	1	0	1.44e-54	5.78e-54	101	198				
ZNF493	284443	broad.mit.edu	37	19	21606219	21606219	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr19:21606219C>G	ENST00000355504.4	+	2	640	c.374C>G	c.(373-375)aCt>aGt	p.T125S	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.T253S	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	125					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TCAAACCTTACTACACATAAG	0.373																																						uc002npx.2		NA																	0				ovary(1)	1						c.(373-375)ACT>AGT		zinc finger protein 493 isoform 1							37.0	40.0	39.0					19																	21606219		2202	4296	6498	SO:0001583	missense	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21606219C>G	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.374C>G	19.37:g.21606219C>G	ENSP00000347691:p.Thr125Ser					ZNF493_uc002npw.2_Missense_Mutation_p.T253S|ZNF493_uc002npy.2_Missense_Mutation_p.T125S	p.T125S	NM_175910	NP_787106	Q6ZR52	ZN493_HUMAN			2	654	+			125			C2H2-type 4; degenerate.		G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	c.374C>G	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	1.758	-0.487488	0.04352	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.35973	1.28;1.28	0.927	0.927	0.19437	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18964	0.0455	N	0.10945	0.07	0.09310	N	1	P;B	0.35908	0.527;0.037	B;B	0.43274	0.414;0.022	T	0.19679	-1.0298	9	0.16896	T	0.51	.	1.8513	0.03169	0.3224:0.4381:0.0:0.2396	.	125;253	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	S	253;125	ENSP00000376110:T253S;ENSP00000347691:T125S	ENSP00000347691:T125S	T	+	2	0	ZNF493	21398059	0.000000	0.05858	0.006000	0.13384	0.006000	0.05464	-1.283000	0.02796	0.378000	0.24764	0.384000	0.25694	ACT		0.373	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		13	36	0	0	0	0	13	36				
ZNF675	171392	broad.mit.edu	37	19	23837318	23837318	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr19:23837318C>A	ENST00000359788.4	-	4	585	c.417G>T	c.(415-417)atG>atT	p.M139I	ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000601935.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	139					bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TTTTGCTCTGCATAGTTGGTA	0.299																																						uc002nri.2		NA																	0				ovary(1)|kidney(1)	2						c.(415-417)ATG>ATT		zinc finger protein 675							84.0	83.0	83.0					19																	23837318		2203	4298	6501	SO:0001583	missense	171392				bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:23837318C>A		CCDS32981.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	30768	protein-coding gene	gene with protein product	"""TRAF6 inhibitory zinc finger"""					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.417G>T	19.37:g.23837318C>A	ENSP00000352836:p.Met139Ile						p.M139I	NM_138330	NP_612203	Q8TD23	ZN675_HUMAN			4	599	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	139					Q8N211	Missense_Mutation	SNP	ENST00000359788.4	37	c.417G>T	CCDS32981.1	.	.	.	.	.	.	.	.	.	.	.	0.030	-1.339677	0.01277	.	.	ENSG00000197372	ENST00000359788	T	0.06068	3.35	0.916	-1.83	0.07833	.	.	.	.	.	T	0.02888	0.0086	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40459	-0.9562	9	0.62326	D	0.03	.	2.7954	0.05400	0.0:0.2582:0.258:0.4837	.	139	Q8TD23	ZN675_HUMAN	I	139	ENSP00000352836:M139I	ENSP00000352836:M139I	M	-	3	0	ZNF675	23629158	0.030000	0.19436	0.022000	0.16811	0.024000	0.10985	0.267000	0.18552	-2.193000	0.00754	-2.208000	0.00301	ATG		0.299	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466433.1	NM_138330		28	31	1	0	6.33e-13	2.42e-12	28	31				
SUPT5H	6829	broad.mit.edu	37	19	39964118	39964118	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr19:39964118C>A	ENST00000599117.1	+	26	2816	c.2449C>A	c.(2449-2451)Cag>Aag	p.Q817K	SUPT5H_ENST00000598725.1_Missense_Mutation_p.Q817K|SUPT5H_ENST00000402194.2_Missense_Mutation_p.Q813K|SUPT5H_ENST00000359191.6_Missense_Mutation_p.Q813K|SUPT5H_ENST00000432763.2_Missense_Mutation_p.Q817K			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	817	9 X 7 AA approximate tandem repeats of G- S-[QR]-T-P-X-[YQ], motif CTR1.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CACTCCTGCCCAGAGTGGGGC	0.622																																						uc002olo.3		NA																	0				ovary(3)|pancreas(1)	4						c.(2449-2451)CAG>AAG		suppressor of Ty 5 homolog isoform a							71.0	71.0	71.0					19																	39964118		2203	4300	6503	SO:0001583	missense	6829				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity	g.chr19:39964118C>A	U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"""suppressor of Ty (S.cerevisiae) 5 homolog"""			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.2449C>A	19.37:g.39964118C>A	ENSP00000470252:p.Gln817Lys					SUPT5H_uc002olp.3_Missense_Mutation_p.Q817K|SUPT5H_uc002olq.3_Missense_Mutation_p.Q813K|SUPT5H_uc002oln.3_Missense_Mutation_p.Q817K|SUPT5H_uc002olr.3_Missense_Mutation_p.Q817K|SUPT5H_uc002ols.1_Missense_Mutation_p.Q440K|SUPT5H_uc010egp.1_3'UTR	p.Q817K	NM_001111020	NP_001104490	O00267	SPT5H_HUMAN	Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		25	2628	+	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		817			CTR1-9.|9 X 7 AA approximate tandem repeats of G- S-[QR]-T-P-X-[YQ], motif CTR1.		O43279|Q59G52|Q99639	Missense_Mutation	SNP	ENST00000599117.1	37	c.2449C>A	CCDS12536.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.828270	0.50845	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.62392	0.2424	L	0.53249	1.67	0.80722	D	1	B;B;P	0.34909	0.253;0.42;0.475	B;B;B	0.40329	0.173;0.255;0.326	T	0.61362	-0.7078	8	.	.	.	-18.9302	16.2818	0.82694	0.0:1.0:0.0:0.0	.	609;813;817	B4DJK4;O00267-2;O00267	.;.;SPT5H_HUMAN	K	817;813;795;817	.	.	Q	+	1	0	SUPT5H	44655958	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.403000	0.79983	2.136000	0.66102	0.462000	0.41574	CAG		0.622	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	NM_003169		29	14	1	0	7.26e-15	2.81e-14	29	14				
CADM4	199731	broad.mit.edu	37	19	44127586	44127586	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr19:44127586A>T	ENST00000222374.2	-	9	1111	c.1063T>A	c.(1063-1065)Tat>Aat	p.Y355N	CADM4_ENST00000593506.1_5'Flank	NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	355					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				TGGGTCAGATAGGAACCTGAG	0.537																																						uc002oxc.1		NA																	0					0						c.(1063-1065)TAT>AAT		cell adhesion molecule 4 precursor							106.0	109.0	108.0					19																	44127586		2203	4300	6503	SO:0001583	missense	199731				cell adhesion	integral to membrane		g.chr19:44127586A>T	AF363368	CCDS12627.1	19q13.32	2013-01-29	2007-02-07	2007-02-07		ENSG00000105767		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30825	protein-coding gene	gene with protein product	"""nectin-like 4"""	609744	"""immunoglobulin superfamily, member 4C"""	IGSF4C		11536053	Standard	NM_145296		Approved	TSLL2, Necl-4, SynCAM4	uc002oxc.1	Q8NFZ8		ENST00000222374.2:c.1063T>A	19.37:g.44127586A>T	ENSP00000222374:p.Tyr355Asn						p.Y355N	NM_145296	NP_660339	Q8NFZ8	CADM4_HUMAN			9	1112	-		Prostate(69;0.0199)	355			Cytoplasmic (Potential).		B2R7L5|Q9Y4A4	Missense_Mutation	SNP	ENST00000222374.2	37	c.1063T>A	CCDS12627.1	.	.	.	.	.	.	.	.	.	.	A	18.13	3.554671	0.65425	.	.	ENSG00000105767	ENST00000222374	T	0.62941	-0.01	4.56	4.56	0.56223	Neurexin/syndecan/glycophorin C (1);	0.000000	0.64402	D	0.000001	T	0.77644	0.4161	M	0.77406	2.37	0.48632	D	0.999685	D	0.71674	0.998	D	0.76071	0.987	T	0.80434	-0.1384	10	0.66056	D	0.02	.	12.2052	0.54348	1.0:0.0:0.0:0.0	.	355	Q8NFZ8	CADM4_HUMAN	N	355	ENSP00000222374:Y355N	ENSP00000222374:Y355N	Y	-	1	0	CADM4	48819426	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.552000	0.82192	1.842000	0.53543	0.378000	0.23410	TAT		0.537	CADM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463352.1	NM_145296		82	20	0	0	0	0	82	20				
ZC3H4	23211	broad.mit.edu	37	19	47584783	47584783	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr19:47584783T>A	ENST00000253048.5	-	11	1464	c.1427A>T	c.(1426-1428)gAg>gTg	p.E476V	ZC3H4_ENST00000594019.1_Intron|RN7SL533P_ENST00000584468.1_RNA	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	476							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		ATCCAAGAGCTCCCTCGTCTC	0.577																																						uc002pga.3		NA																	0				skin(4)|ovary(2)	6						c.(1426-1428)GAG>GTG		zinc finger CCCH-type containing 4							108.0	105.0	106.0					19																	47584783		1986	4150	6136	SO:0001583	missense	23211						nucleic acid binding|zinc ion binding	g.chr19:47584783T>A	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.1427A>T	19.37:g.47584783T>A	ENSP00000253048:p.Glu476Val					ZC3H4_uc002pgb.1_Intron	p.E476V	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	11	1465	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	476					Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	37	c.1427A>T	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.972686	0.74246	.	.	ENSG00000130749	ENST00000253048	T	0.36340	1.26	5.65	5.65	0.86999	.	0.059759	0.64402	D	0.000004	T	0.48857	0.1523	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.49204	-0.8964	10	0.59425	D	0.04	.	14.8512	0.70297	0.0:0.0:0.0:1.0	.	476	Q9UPT8	ZC3H4_HUMAN	V	476	ENSP00000253048:E476V	ENSP00000253048:E476V	E	-	2	0	ZC3H4	52276623	1.000000	0.71417	0.998000	0.56505	0.919000	0.55068	7.702000	0.84576	2.156000	0.67533	0.496000	0.49642	GAG		0.577	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			22	12	0	0	0	0	22	12				
CD33	945	broad.mit.edu	37	19	51728579	51728579	+	Missense_Mutation	SNP	C	C	T	rs369509571		TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr19:51728579C>T	ENST00000262262.4	+	2	164	c.143C>T	c.(142-144)cCc>cTc	p.P48L	CD33_ENST00000391796.3_Missense_Mutation_p.P48L|CD33_ENST00000436584.2_Intron|CD33_ENST00000421133.2_Intron	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	48	Ig-like V-type.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CATCCCATACCCTACTACGAC	0.517																																						uc002pwa.2		NA																	0					0						c.(142-144)CCC>CTC		CD33 antigen isoform 1 precursor	Gemtuzumab ozogamicin(DB00056)						93.0	90.0	91.0					19																	51728579		2203	4300	6503	SO:0001583	missense	945				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding	g.chr19:51728579C>T	M23197	CCDS33084.1, CCDS46157.1, CCDS54299.1	19q13.3	2013-01-29	2006-03-28		ENSG00000105383	ENSG00000105383		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1659	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 3"""	159590	"""CD33 antigen (gp67)"""			3139766, 9465907	Standard	NM_001772		Approved	SIGLEC3, SIGLEC-3, p67, FLJ00391	uc002pwa.2	P20138		ENST00000262262.4:c.143C>T	19.37:g.51728579C>T	ENSP00000262262:p.Pro48Leu					CD33_uc010eos.1_Missense_Mutation_p.P48L|CD33_uc010eot.1_Intron|CD33_uc010eou.1_5'Flank	p.P48L	NM_001772	NP_001763	P20138	CD33_HUMAN		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	2	183	+		all_neural(266;0.0199)	48			Extracellular (Potential).|Ig-like V-type.		B4E3P8|C9JEN7|F8WAL2|Q8TD24	Missense_Mutation	SNP	ENST00000262262.4	37	c.143C>T	CCDS33084.1	.	.	.	.	.	.	.	.	.	.	.	0.007	-1.948446	0.00475	.	.	ENSG00000105383	ENST00000262262;ENST00000391796	T;T	0.40476	1.03;2.08	2.35	-4.71	0.03279	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.27594	0.0678	L	0.57536	1.79	0.09310	N	0.999997	B;B	0.15141	0.01;0.012	B;B	0.10450	0.002;0.005	T	0.35126	-0.9801	9	0.13108	T	0.6	.	1.3131	0.02102	0.1537:0.2637:0.3388:0.2438	.	48;48	F8WAL2;P20138	.;CD33_HUMAN	L	48	ENSP00000262262:P48L;ENSP00000375673:P48L	ENSP00000262262:P48L	P	+	2	0	CD33	56420391	0.011000	0.17503	0.000000	0.03702	0.000000	0.00434	1.371000	0.34250	-2.782000	0.00360	-1.047000	0.02352	CCC		0.517	CD33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464199.2	NM_001772		11	66	0	0	0	0	11	66				
ZNF677	342926	broad.mit.edu	37	19	53740901	53740901	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr19:53740901G>A	ENST00000598513.1	-	5	1229	c.1079C>T	c.(1078-1080)tCa>tTa	p.S360L	ZNF677_ENST00000333952.4_Missense_Mutation_p.S360L	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	360					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		CCAAAGGTGTGAACGCTGGAT	0.393																																						uc002qbf.1		NA																	0				ovary(1)	1						c.(1078-1080)TCA>TTA		zinc finger protein 677							79.0	75.0	76.0					19																	53740901		2203	4300	6503	SO:0001583	missense	342926				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53740901G>A	BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"""Zinc fingers, C2H2-type"", ""-"""	28730	protein-coding gene	gene with protein product	"""hypothetical protein MGC48625"""					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.1079C>T	19.37:g.53740901G>A	ENSP00000469391:p.Ser360Leu					ZNF677_uc002qbg.1_Missense_Mutation_p.S360L	p.S360L	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN		GBM - Glioblastoma multiforme(134;0.00352)	5	1264	-			360			C2H2-type 4.			Missense_Mutation	SNP	ENST00000598513.1	37	c.1079C>T	CCDS12861.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.768173	0.31320	.	.	ENSG00000197928	ENST00000333952	T	0.07444	3.19	2.14	1.05	0.20165	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.28425	N	0.015386	T	0.09158	0.0226	M	0.78285	2.405	0.09310	N	1	B	0.30584	0.286	B	0.23018	0.043	T	0.20338	-1.0278	10	0.62326	D	0.03	.	4.4483	0.11609	0.0:0.2552:0.4845:0.2603	.	360	Q86XU0	ZN677_HUMAN	L	360	ENSP00000334394:S360L	ENSP00000334394:S360L	S	-	2	0	ZNF677	58432713	0.000000	0.05858	0.006000	0.13384	0.828000	0.46876	0.217000	0.17603	0.450000	0.26774	0.609000	0.83330	TCA		0.393	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464189.1	NM_182609		38	13	0	0	0	0	38	13				
ATAD2B	54454	broad.mit.edu	37	2	24056880	24056881	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr2:24056880_24056881CC>AG	ENST00000238789.5	-	14	1979_1980	c.1636_1637GG>CT	c.(1636-1638)GGt>CTt	p.G546L	ATAD2B_ENST00000474583.1_5'Flank	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	546						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTTTGTAGCACCAATAACAACA	0.381																																						uc002rek.3		NA																	0				central_nervous_system(1)	1						c.(1636-1638)GGT>CTT		ATPase family, AAA domain containing 2B																																				SO:0001583	missense	54454						ATP binding|nucleoside-triphosphatase activity	g.chr2:24056880_24056881CC>AG	AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"""ATPases / AAA-type"""	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.1636_1637delinsAG	2.37:g.24056880_24056881delinsAG	ENSP00000238789:p.Gly546Leu					ATAD2B_uc010yki.1_RNA|ATAD2B_uc002rej.3_5'Flank	p.G546L	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN			14	1930_1931	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		546					B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	DNP	ENST00000238789.5	37	c.1636_1637GG>CT	CCDS46227.1																																																																																				0.381	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552		13	24	0	0	0	0	13	24				
REG3A	5068	broad.mit.edu	37	2	79385863	79385863	+	Silent	SNP	G	G	T	rs538408283		TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr2:79385863G>T	ENST00000409839.3	-	3	145	c.109C>A	c.(109-111)Cgg>Agg	p.R37R	REG3A_ENST00000305165.2_Silent_p.R37R|AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000393878.1_Silent_p.R37R	NM_002580.2|NM_138937.2	NP_002571.1|NP_620354.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	37					acute-phase response (GO:0006953)|cell proliferation (GO:0008283)|heterophilic cell-cell adhesion (GO:0007157)|multicellular organismal development (GO:0007275)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						CAGCGGATCCGTGCAGAGGGC	0.552													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16801	0.0		0.0	False		,,,				2504	0.0					uc002sod.1		NA																	0				skin(1)	1						c.(109-111)CGG>AGG		pancreatitis-associated protein precursor							81.0	75.0	77.0					2																	79385863		2203	4300	6503	SO:0001819	synonymous_variant	5068				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	g.chr2:79385863G>T	S51768	CCDS1965.1	2p12	2008-02-05	2005-02-11	2005-02-11	ENSG00000172016	ENSG00000172016			8601	protein-coding gene	gene with protein product		167805	"""pancreatitis-associated protein"""	PAP		8188210	Standard	NM_002580		Approved	HIP, REG-III, REG3, PBCGF, PAP1	uc002sof.2	Q06141	OTTHUMG00000130017	ENST00000409839.3:c.109C>A	2.37:g.79385863G>T						REG3A_uc002soe.1_Silent_p.R37R|REG3A_uc002sof.1_Silent_p.R37R	p.R37R	NM_138938	NP_620355	Q06141	REG3A_HUMAN			2	364	-			37						Silent	SNP	ENST00000409839.3	37	c.109C>A	CCDS1965.1																																																																																				0.552	REG3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252290.2	NM_002580		14	28	1	0	1.5e-05	5.44e-05	14	28				
SLC9A2	6549	broad.mit.edu	37	2	103274384	103274384	+	Silent	SNP	C	C	A			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr2:103274384C>A	ENST00000233969.2	+	2	793	c.651C>A	c.(649-651)gtC>gtA	p.V217V		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	217					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TCTCAGCTGTCGATCCTGTGG	0.498																																						uc002tca.2		NA																	0				central_nervous_system(3)|skin(3)|breast(2)	8						c.(649-651)GTC>GTA		solute carrier family 9 (sodium/hydrogen							239.0	213.0	222.0					2																	103274384		2203	4300	6503	SO:0001819	synonymous_variant	6549					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr2:103274384C>A		CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"""Solute carriers"""	11072	protein-coding gene	gene with protein product		600530	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 2"""	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.651C>A	2.37:g.103274384C>A							p.V217V	NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN			2	793	+			217			Helical; Name=F/M5A; (Potential).		B2RMS2	Silent	SNP	ENST00000233969.2	37	c.651C>A	CCDS2062.1																																																																																				0.498	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2			108	148	1	0	3.11e-38	1.24e-37	108	148				
SAP130	79595	broad.mit.edu	37	2	128747419	128747419	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr2:128747419G>C	ENST00000259235.3	-	13	1706	c.1577C>G	c.(1576-1578)tCt>tGt	p.S526C	SAP130_ENST00000259234.6_Missense_Mutation_p.S500C|SAP130_ENST00000357702.5_Missense_Mutation_p.S526C	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	526					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TGTGATGGCAGAGTTTGGAGC	0.443																																						uc002tpp.2		NA																	0				ovary(2)|skin(2)	4						c.(1576-1578)TCT>TGT		Sin3A-associated protein, 130kDa isoform b							79.0	67.0	71.0					2																	128747419		2203	4300	6503	SO:0001583	missense	79595				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:128747419G>C	BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.1577C>G	2.37:g.128747419G>C	ENSP00000259235:p.Ser526Cys					SAP130_uc002tpn.2_Missense_Mutation_p.S287C|SAP130_uc002tpo.2_Missense_Mutation_p.S271C|SAP130_uc010fmd.2_Missense_Mutation_p.S526C|SAP130_uc002tpq.1_Missense_Mutation_p.S499C	p.S526C	NM_024545	NP_078821	Q9H0E3	SP130_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0771)	13	1709	-	Colorectal(110;0.1)		526					B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Missense_Mutation	SNP	ENST00000259235.3	37	c.1577C>G	CCDS2153.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.680517	0.68042	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234	.	.	.	5.41	5.41	0.78517	.	0.052511	0.85682	D	0.000000	T	0.68513	0.3009	L	0.32530	0.975	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.998	D;D;D;D;P	0.74674	0.971;0.964;0.935;0.984;0.906	T	0.71461	-0.4586	9	0.72032	D	0.01	-18.7725	19.2076	0.93739	0.0:0.0:1.0:0.0	.	526;499;526;56;164	B7ZLM3;Q96DP1;Q9H0E3;Q9H0E3-2;B3KRT9	.;.;SP130_HUMAN;.;.	C	526;526;500	.	ENSP00000259234:S500C	S	-	2	0	SAP130	128463889	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	9.302000	0.96175	2.511000	0.84671	0.655000	0.94253	TCT		0.443	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		19	29	0	0	0	0	19	29				
NEB	4703	broad.mit.edu	37	2	152534129	152534129	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr2:152534129C>A	ENST00000172853.10	-	34	3871	c.3724G>T	c.(3724-3726)Gac>Tac	p.D1242Y	NEB_ENST00000397345.3_Missense_Mutation_p.D1242Y|NEB_ENST00000603639.1_Missense_Mutation_p.D1242Y|NEB_ENST00000427231.2_Missense_Mutation_p.D1242Y|NEB_ENST00000409198.1_Missense_Mutation_p.D1242Y|NEB_ENST00000604864.1_Missense_Mutation_p.D1242Y			P20929	NEBU_HUMAN	nebulin	1242					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)		ACTGGGGAGTCCACAATGCTG	0.443																																						uc010fnx.2		NA																	0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(3724-3726)GAC>TAC		nebulin isoform 3							150.0	143.0	145.0					2																	152534129		1940	4138	6078	SO:0001583	missense	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.chr2:152534129C>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.3724G>T	2.37:g.152534129C>A	ENSP00000172853:p.Asp1242Tyr						p.D1242Y	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	34	3915	-			1242			Nebulin 31.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.3724G>T		.	.	.	.	.	.	.	.	.	.	C	20.7	4.034986	0.75617	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39	5.29	4.39	0.52855	.	0.000000	0.85682	D	0.000000	D	0.85195	0.5641	M	0.91818	3.245	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89053	0.3457	10	0.87932	D	0	.	15.7376	0.77859	0.0:0.8628:0.1372:0.0	.	1242	P20929	NEBU_HUMAN	Y	1242	ENSP00000386259:D1242Y;ENSP00000380505:D1242Y;ENSP00000416578:D1242Y;ENSP00000172853:D1242Y	ENSP00000172853:D1242Y	D	-	1	0	NEB	152242375	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.039000	0.70972	1.330000	0.45394	0.655000	0.94253	GAC		0.443	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		35	74	1	0	3.9e-15	1.51e-14	35	74				
XIRP2	129446	broad.mit.edu	37	2	168103945	168103945	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr2:168103945G>C	ENST00000409195.1	+	9	6132	c.6043G>C	c.(6043-6045)Gag>Cag	p.E2015Q	XIRP2_ENST00000409273.1_Missense_Mutation_p.E1793Q|XIRP2_ENST00000295237.9_Missense_Mutation_p.E2015Q|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1840					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGAAAGAACTGAGGTTAATCT	0.438																																						uc002udx.2		NA																	0				skin(7)|ovary(6)|pancreas(1)	14						c.(6043-6045)GAG>CAG		xin actin-binding repeat containing 2 isoform 1							49.0	46.0	47.0					2																	168103945		1850	4091	5941	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168103945G>C	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.6043G>C	2.37:g.168103945G>C	ENSP00000386840:p.Glu2015Gln					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.E1840Q|XIRP2_uc010fpq.2_Missense_Mutation_p.E1793Q|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	p.E2015Q	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	6061	+			1840					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.6043G>C	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	3.817	-0.038504	0.07497	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.03272	3.99;3.99;3.99	5.51	2.66	0.31614	.	0.850034	0.10746	N	0.638921	T	0.08403	0.0209	M	0.65975	2.015	0.19575	N	0.999966	P;P;P	0.49783	0.799;0.873;0.928	B;B;P	0.48030	0.252;0.436;0.564	T	0.26292	-1.0107	10	0.45353	T	0.12	-0.4105	9.1741	0.37100	0.2515:0.0:0.7485:0.0	.	1840;1840;1793	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	Q	2015;2015;1793	ENSP00000386840:E2015Q;ENSP00000295237:E2015Q;ENSP00000387255:E1793Q	ENSP00000295237:E2015Q	E	+	1	0	XIRP2	167812191	0.999000	0.42202	0.070000	0.20053	0.097000	0.18754	3.123000	0.50453	0.267000	0.21916	-0.142000	0.14014	GAG		0.438	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		24	30	0	0	0	0	24	30				
G6PC2	57818	broad.mit.edu	37	2	169764494	169764494	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr2:169764494T>A	ENST00000375363.3	+	5	1065	c.973T>A	c.(973-975)Ttt>Att	p.F325I	G6PC2_ENST00000461586.1_3'UTR|SPC25_ENST00000472216.2_Intron	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	325					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						TGTGCTGTCTTTTTGTAAAAG	0.433																																						uc002uem.2		NA																	0				pancreas(1)	1						c.(973-975)TTT>ATT		islet-specific glucose-6-phosphatase-related							172.0	169.0	170.0					2																	169764494		2203	4300	6503	SO:0001583	missense	57818				gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity	g.chr2:169764494T>A	AF283575	CCDS2230.1, CCDS46443.1	2q24-q31	2008-02-05			ENSG00000152254	ENSG00000152254			28906	protein-coding gene	gene with protein product	"""islet specific glucose 6 phosphatase catalytic subunit related protein"""	608058				10078553, 10078554	Standard	NM_021176		Approved	IGRP	uc002uem.3	Q9NQR9	OTTHUMG00000132182	ENST00000375363.3:c.973T>A	2.37:g.169764494T>A	ENSP00000364512:p.Phe325Ile					G6PC2_uc002uen.2_3'UTR|G6PC2_uc010fpv.2_Missense_Mutation_p.F209I	p.F325I	NM_021176	NP_066999	Q9NQR9	G6PC2_HUMAN			5	1065	+			325			Helical; (Potential).		E9PAX2|Q6AHZ0	Missense_Mutation	SNP	ENST00000375363.3	37	c.973T>A	CCDS2230.1	.	.	.	.	.	.	.	.	.	.	T	28.6	4.932900	0.92458	.	.	ENSG00000152254	ENST00000375363	D	0.83250	-1.7	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.91656	0.7363	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.92811	0.6264	10	0.87932	D	0	-4.9496	16.0628	0.80852	0.0:0.0:0.0:1.0	.	325	Q9NQR9	G6PC2_HUMAN	I	325	ENSP00000364512:F325I	ENSP00000364512:F325I	F	+	1	0	G6PC2	169472740	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.997000	0.88414	2.193000	0.70182	0.533000	0.62120	TTT		0.433	G6PC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255234.2	NM_021176		23	138	0	0	0	0	23	138				
TTN	7273	broad.mit.edu	37	2	179443989	179443989	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr2:179443989G>T	ENST00000591111.1	-	270	63069	c.62845C>A	c.(62845-62847)Cct>Act	p.P20949T	TTN_ENST00000342175.6_Missense_Mutation_p.P13717T|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P20022T|TTN-AS1_ENST00000592630.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P13650T|TTN-AS1_ENST00000419746.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P13525T|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P22590T|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20949	Ig-like 112.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTGCTAGAGGATCTTCCCCT	0.433																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(60064-60066)CCT>ACT		titin isoform N2-A							97.0	96.0	96.0					2																	179443989		1947	4140	6087	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179443989G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.62845C>A	2.37:g.179443989G>T	ENSP00000465570:p.Pro20949Thr					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P13717T|TTN_uc010zfi.1_Missense_Mutation_p.P13650T|TTN_uc010zfj.1_Missense_Mutation_p.P13525T|uc002umv.1_Missense_Mutation_p.G72V	p.P20022T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		269	60288	-			20949					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.60064C>A		.	.	.	.	.	.	.	.	.	.	G	9.290	1.050420	0.19827	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	5.68	5.68	0.88126	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.59514	0.2199	L	0.35854	1.095	0.26871	N	0.967749	B;B;B;B	0.06786	0.001;0.001;0.001;0.0	B;B;B;B	0.08055	0.002;0.002;0.002;0.003	T	0.55042	-0.8202	9	0.87932	D	0	.	14.1637	0.65464	0.0:0.0:0.7375:0.2625	.	13525;13650;13717;20949	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	20022;13525;13717;13650;13523	ENSP00000343764:P20022T;ENSP00000434586:P13525T;ENSP00000340554:P13717T;ENSP00000352154:P13650T	ENSP00000340554:P13717T	P	-	1	0	TTN	179152235	0.494000	0.26043	1.000000	0.80357	0.912000	0.54170	2.374000	0.44274	2.833000	0.97629	0.655000	0.94253	CCT		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		39	63	1	0	1.59e-26	6.26e-26	39	63				
TTN	7273	broad.mit.edu	37	2	179452482	179452482	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr2:179452482A>G	ENST00000591111.1	-	256	58855	c.58631T>C	c.(58630-58632)aTa>aCa	p.I19544T	TTN_ENST00000342175.6_Missense_Mutation_p.I12312T|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I18617T|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I12245T|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I12120T|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I21185T|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19544	Ig-like 109.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCTCTCACTATGACCAGTTT	0.433																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(55849-55851)ATA>ACA		titin isoform N2-A							54.0	52.0	53.0					2																	179452482		1911	4127	6038	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179452482A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.58631T>C	2.37:g.179452482A>G	ENSP00000465570:p.Ile19544Thr					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I12312T|TTN_uc010zfi.1_Missense_Mutation_p.I12245T|TTN_uc010zfj.1_Missense_Mutation_p.I12120T	p.I18617T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		255	56074	-			19544					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.55850T>C		.	.	.	.	.	.	.	.	.	.	A	8.924	0.961746	0.18583	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	6.01	-5.84	0.02318	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.28200	0.0696	N	0.01809	-0.71	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.21075	-1.0256	9	0.87932	D	0	.	4.8084	0.13331	0.2908:0.092:0.5244:0.0928	.	12120;12245;12312;19544	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	18617;12120;12312;12245;12118	ENSP00000343764:I18617T;ENSP00000434586:I12120T;ENSP00000340554:I12312T;ENSP00000352154:I12245T	ENSP00000340554:I12312T	I	-	2	0	TTN	179160728	0.996000	0.38824	0.046000	0.18839	0.982000	0.71751	2.144000	0.42197	-0.631000	0.05560	-1.229000	0.01577	ATA		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		24	41	0	0	0	0	24	41				
TTN	7273	broad.mit.edu	37	2	179604933	179604933	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr2:179604933C>G	ENST00000591111.1	-	46	12300	c.12076G>C	c.(12076-12078)Gaa>Caa	p.E4026Q	TTN_ENST00000342175.6_Missense_Mutation_p.E4172Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Missense_Mutation_p.E4105Q|TTN_ENST00000460472.2_Missense_Mutation_p.E3980Q|TTN_ENST00000589042.1_Missense_Mutation_p.E4343Q|TTN-AS1_ENST00000590773.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAATGCTCTTCTTTGAGCAGT	0.473																																						uc010zfh.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(12514-12516)GAA>CAA		titin isoform novex-2							100.0	98.0	99.0					2																	179604933		1902	4127	6029	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179604933C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.12076G>C	2.37:g.179604933C>G	ENSP00000465570:p.Glu4026Gln					TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.E4105Q|TTN_uc010zfj.1_Missense_Mutation_p.E3980Q|TTN_uc002umz.1_Intron	p.E4172Q	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	12738	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.12514G>C		.	.	.	.	.	.	.	.	.	.	C	14.76	2.632370	0.46944	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.71934	-0.5;-0.6;-0.61	5.79	5.79	0.91817	.	.	.	.	.	T	0.65176	0.2666	L	0.36672	1.1	0.35334	D	0.78589	P;P;P	0.40250	0.709;0.709;0.709	B;B;B	0.36608	0.229;0.229;0.229	T	0.75216	-0.3396	9	0.87932	D	0	.	20.0361	0.97558	0.0:1.0:0.0:0.0	.	3980;4105;4172	D3DPF9;E7EQE6;E7ET18	.;.;.	Q	3980;4172;4105;3980	ENSP00000434586:E3980Q;ENSP00000340554:E4172Q;ENSP00000352154:E4105Q	ENSP00000340554:E4172Q	E	-	1	0	TTN	179313178	1.000000	0.71417	0.999000	0.59377	0.673000	0.39480	5.847000	0.69451	2.740000	0.93945	0.563000	0.77884	GAA		0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		52	72	0	0	0	0	52	72				
ITGAV	3685	broad.mit.edu	37	2	187506311	187506311	+	Silent	SNP	C	C	T			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr2:187506311C>T	ENST00000261023.3	+	12	1429	c.1155C>T	c.(1153-1155)ttC>ttT	p.F385F	ITGAV_ENST00000374907.3_Silent_p.F349F|ITGAV_ENST00000433736.2_Silent_p.F339F|AC017101.10_ENST00000453665.1_RNA	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	385					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	AGGATGGTTTCAATGGTAAGA	0.463																																					Melanoma(58;108 1995 6081)	uc002upq.2		NA																	0				ovary(2)|kidney(1)|skin(1)	4						c.(1153-1155)TTC>TTT		integrin alpha-V isoform 1 precursor							110.0	108.0	109.0					2																	187506311		2203	4300	6503	SO:0001819	synonymous_variant	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187506311C>T		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.1155C>T	2.37:g.187506311C>T						ITGAV_uc010frs.2_Silent_p.F349F|ITGAV_uc010zfv.1_Silent_p.F339F	p.F385F	NM_002210	NP_002201	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	12	1431	+			385			FG-GAP 6.|Potential.|Extracellular (Potential).		A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Silent	SNP	ENST00000261023.3	37	c.1155C>T	CCDS2292.1																																																																																				0.463	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		59	77	0	0	0	0	59	77				
TTLL4	9654	broad.mit.edu	37	2	219612322	219612322	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr2:219612322A>G	ENST00000392102.1	+	11	2592	c.2252A>G	c.(2251-2253)tAt>tGt	p.Y751C	TTLL4_ENST00000442769.1_Missense_Mutation_p.Y687C|TTLL4_ENST00000457313.1_Missense_Mutation_p.Y586C|TTLL4_ENST00000258398.4_Missense_Mutation_p.Y751C	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	751	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		CTATGTAGGTATCTACACAAA	0.478																																					GBM(172;1818 2053 15407 20943 49753)	uc002viy.2		NA																	0				ovary(2)|skin(1)	3						c.(2251-2253)TAT>TGT		tubulin tyrosine ligase-like family, member 4							144.0	133.0	137.0					2																	219612322		2203	4300	6503	SO:0001583	missense	9654				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr2:219612322A>G		CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"""Tubulin tyrosine ligase-like family"""	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.2252A>G	2.37:g.219612322A>G	ENSP00000375951:p.Tyr751Cys					TTLL4_uc010zkl.1_Missense_Mutation_p.Y586C|TTLL4_uc010fvx.2_Missense_Mutation_p.Y687C|TTLL4_uc010zkm.1_5'UTR	p.Y751C	NM_014640	NP_055455	Q14679	TTLL4_HUMAN		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)	11	2622	+		Renal(207;0.0915)	751			TTL.		A8K6V5|Q8WW29	Missense_Mutation	SNP	ENST00000392102.1	37	c.2252A>G	CCDS2422.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.9|20.9	4.069288|4.069288	0.76301|0.76301	.|.	.|.	ENSG00000135912|ENSG00000135912	ENST00000448224|ENST00000457313;ENST00000392102;ENST00000442769;ENST00000258398	.|T;T;T;T	.|0.30714	.|1.52;1.52;1.52;1.52	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.71710|0.71710	0.3372|0.3372	H|H	0.99464|0.99464	4.58|4.58	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;0.999;1.0	T|T	0.82112|0.82112	-0.0618|-0.0618	5|10	.|0.87932	.|D	.|0	.|.	10.546|10.546	0.45060|0.45060	0.9228:0.0:0.0772:0.0|0.9228:0.0:0.0772:0.0	.|.	.|586;687;751	.|E9PH58;E7EX20;Q14679	.|.;.;TTLL4_HUMAN	V|C	83|586;751;687;751	.|ENSP00000393332:Y586C;ENSP00000375951:Y751C;ENSP00000396555:Y687C;ENSP00000258398:Y751C	.|ENSP00000258398:Y751C	I|Y	+|+	1|2	0|0	TTLL4|TTLL4	219320566|219320566	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	6.925000|6.925000	0.75829|0.75829	2.217000|2.217000	0.71921|0.71921	0.533000|0.533000	0.62120|0.62120	ATC|TAT		0.478	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640		54	23	0	0	0	0	54	23				
PLCB4	5332	broad.mit.edu	37	20	9353027	9353027	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr20:9353027T>A	ENST00000378493.1	+	8	678	c.663T>A	c.(661-663)gaT>gaA	p.D221E	PLCB4_ENST00000378501.2_Missense_Mutation_p.D221E|PLCB4_ENST00000278655.4_Missense_Mutation_p.D221E|PLCB4_ENST00000334005.3_Missense_Mutation_p.D221E|PLCB4_ENST00000414679.2_Missense_Mutation_p.D221E|PLCB4_ENST00000378473.3_Missense_Mutation_p.D221E|PLCB4_ENST00000492632.1_3'UTR			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	221					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CTCGGACAGATATAGAAGATC	0.308																																						uc002wnf.2		NA																	0				skin(11)|ovary(3)|pancreas(1)	15						c.(661-663)GAT>GAA		phospholipase C beta 4 isoform b							57.0	58.0	58.0					20																	9353027		2202	4300	6502	SO:0001583	missense	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9353027T>A		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.663T>A	20.37:g.9353027T>A	ENSP00000367754:p.Asp221Glu					PLCB4_uc010gbw.1_Missense_Mutation_p.D221E|PLCB4_uc010gbx.2_Missense_Mutation_p.D221E|PLCB4_uc002wne.2_Missense_Mutation_p.D221E|PLCB4_uc002wnh.2_Missense_Mutation_p.D68E	p.D221E	NM_182797	NP_877949	Q15147	PLCB4_HUMAN			10	799	+			221					B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.663T>A	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	T	15.57	2.871456	0.51695	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.11063	2.81;2.81;2.81;2.81;2.81;2.81	5.91	0.993	0.19825	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.106561	0.64402	D	0.000002	T	0.14917	0.0360	N	0.21282	0.65	0.48236	D	0.999617	D;B;D;P	0.63046	0.957;0.041;0.992;0.905	P;B;D;P	0.77004	0.789;0.078;0.989;0.671	T	0.04386	-1.0955	10	0.27082	T	0.32	.	8.9196	0.35604	0.0:0.5202:0.0:0.4798	.	221;68;221;221	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	E	221;221;221;221;221;57	ENSP00000334105:D221E;ENSP00000367734:D221E;ENSP00000278655:D221E;ENSP00000367754:D221E;ENSP00000367762:D221E;ENSP00000390616:D57E	ENSP00000278655:D221E	D	+	3	2	PLCB4	9301027	0.993000	0.37304	1.000000	0.80357	0.998000	0.95712	0.319000	0.19522	0.163000	0.19507	0.533000	0.62120	GAT		0.308	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			14	36	0	0	0	0	14	36				
NAA20	51126	broad.mit.edu	37	20	20013295	20013295	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr20:20013295A>G	ENST00000334982.4	+	5	730	c.449A>G	c.(448-450)tAt>tGt	p.Y150C	NAA20_ENST00000310450.4_Intron|NAA20_ENST00000398602.2_Missense_Mutation_p.Y138C|NAA20_ENST00000484480.1_3'UTR	NM_016100.4	NP_057184.1	P61599	NAA20_HUMAN	N(alpha)-acetyltransferase 20, NatB catalytic subunit	150	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.					cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)			endometrium(3)|lung(2)|prostate(1)	6						GAGGACGCTTATGGTAAGCTC	0.408																																						uc002wrp.2		NA																	0					0						c.(448-450)TAT>TGT		N-acetyltransferase 5 isoform a							81.0	75.0	77.0					20																	20013295		2203	4300	6503	SO:0001583	missense	51126					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity	g.chr20:20013295A>G	AF085355	CCDS13141.1, CCDS13142.1, CCDS42854.1	20p11.23	2010-05-07	2010-01-14	2010-01-14	ENSG00000173418	ENSG00000173418	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	15908	protein-coding gene	gene with protein product	"""N-acetyltransferase 3 homolog (S. cerevisiae)"""	610833	"""N-acetyltransferase 5, ARD1 subunit (arrest-defective 1, S. cerevisiae, homolog)"", ""N-acetyltransferase 5 (ARD1 homolog, S. cerevisiae)"", ""N-acetyltransferase 5"", ""N-acetyltransferase 5 (GCN5-related, putative)"""	NAT5		12888564, 19660095	Standard	NM_016100		Approved	dJ1002M8.1, NAT3	uc002wrp.3	P61599	OTTHUMG00000031998	ENST00000334982.4:c.449A>G	20.37:g.20013295A>G	ENSP00000335636:p.Tyr150Cys					NAA20_uc002wrq.2_Intron|NAA20_uc002wrr.2_Missense_Mutation_p.Y138C	p.Y150C	NM_016100	NP_057184	P61599	NAA20_HUMAN			5	553	+			150			N-acetyltransferase.		A6NHA3|B2R4G4|Q5TFT7|Q9D7H8|Q9H0Y4|Q9NQH6|Q9Y6D2	Missense_Mutation	SNP	ENST00000334982.4	37	c.449A>G	CCDS13141.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.551703	0.86127	.	.	ENSG00000173418	ENST00000334982;ENST00000398602	T;T	0.68903	0.22;-0.36	5.62	5.62	0.85841	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.85256	0.5655	H	0.95114	3.625	0.80722	D	1	P;D	0.67145	0.953;0.996	P;P	0.60345	0.738;0.873	D	0.89791	0.3968	9	.	.	.	-0.4802	14.8478	0.70272	1.0:0.0:0.0:0.0	.	138;150	A8MZB2;P61599	.;NAA20_HUMAN	C	150;138	ENSP00000335636:Y150C;ENSP00000381603:Y138C	.	Y	+	2	0	NAA20	19961295	1.000000	0.71417	0.209000	0.23619	0.967000	0.64934	9.181000	0.94874	2.152000	0.67230	0.529000	0.55759	TAT		0.408	NAA20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078217.2	NM_016100		25	31	0	0	0	0	25	31				
CD93	22918	broad.mit.edu	37	20	23065386	23065386	+	Missense_Mutation	SNP	C	C	T	rs142122866	byFrequency	TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr20:23065386C>T	ENST00000246006.4	-	1	1591	c.1444G>A	c.(1444-1446)Gat>Aat	p.D482N		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	482					macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TCCTCCTCATCGGGGGGCCCA	0.657													C|||	2	0.000399361	0.0	0.0	5008	,	,		15633	0.0		0.0	False		,,,				2504	0.002					uc002wsv.2		NA																	0				large_intestine(2)	2						c.(1444-1446)GAT>AAT		CD93 antigen precursor		C	ASN/ASP	1,4401		0,1,2200	29.0	35.0	33.0		1444	1.4	0.0	20	dbSNP_134	33	0,8590		0,0,4295	no	missense	CD93	NM_012072.3	23	0,1,6495	TT,TC,CC		0.0,0.0227,0.0077	benign	482/653	23065386	1,12991	2201	4295	6496	SO:0001583	missense	22918				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	g.chr20:23065386C>T	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.1444G>A	20.37:g.23065386C>T	ENSP00000246006:p.Asp482Asn						p.D482N	NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN			1	1592	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		482			Extracellular (Potential).		O00274	Missense_Mutation	SNP	ENST00000246006.4	37	c.1444G>A	CCDS13149.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.914455	0.33815	2.27E-4	0.0	ENSG00000125810	ENST00000246006	T	0.79845	-1.31	4.78	1.39	0.22231	.	1.597100	0.03589	N	0.231448	T	0.64800	0.2631	N	0.08118	0	0.09310	N	1	B	0.30634	0.288	B	0.17098	0.017	T	0.51911	-0.8645	10	0.23891	T	0.37	0.2137	13.5855	0.61928	0.0:0.4585:0.5415:0.0	.	482	Q9NPY3	C1QR1_HUMAN	N	482	ENSP00000246006:D482N	ENSP00000246006:D482N	D	-	1	0	CD93	23013386	0.030000	0.19436	0.001000	0.08648	0.011000	0.07611	1.109000	0.31135	0.522000	0.28464	-0.225000	0.12378	GAT		0.657	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		35	40	0	0	0	0	35	40				
NINL	22981	broad.mit.edu	37	20	25485703	25485703	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr20:25485703T>C	ENST00000278886.6	-	6	602	c.529A>G	c.(529-531)Acc>Gcc	p.T177A	NINL_ENST00000422516.1_Missense_Mutation_p.T177A	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	177					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GAATCCCAGGTCTGCAGCTGT	0.572																																						uc002wux.1		NA																	0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(529-531)ACC>GCC		ninein-like							21.0	25.0	24.0					20																	25485703		2203	4300	6503	SO:0001583	missense	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25485703T>C		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.529A>G	20.37:g.25485703T>C	ENSP00000278886:p.Thr177Ala					NINL_uc010gdn.1_Missense_Mutation_p.T177A|NINL_uc010gdo.1_Missense_Mutation_p.T17A|NINL_uc010ztf.1_Missense_Mutation_p.T193A	p.T177A	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN			6	603	-			177					A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	c.529A>G	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	T	3.902	-0.021778	0.07634	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.30182	1.82;1.54	5.18	-9.54	0.00572	.	1.613880	0.02962	N	0.143271	T	0.06690	0.0171	N	0.01267	-0.92	0.09310	N	1	B;B	0.15473	0.001;0.013	B;B	0.08055	0.003;0.002	T	0.21793	-1.0235	10	0.11485	T	0.65	0.051	0.2419	0.00193	0.2701:0.178:0.174:0.3779	.	177;177	Q9Y2I6-2;Q9Y2I6	.;NINL_HUMAN	A	177	ENSP00000278886:T177A;ENSP00000410431:T177A	ENSP00000278886:T177A	T	-	1	0	NINL	25433703	0.000000	0.05858	0.004000	0.12327	0.113000	0.19764	-1.523000	0.02235	-1.700000	0.01414	-0.316000	0.08728	ACC		0.572	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		4	9	0	0	0	0	4	9				
PHACTR3	116154	broad.mit.edu	37	20	58342414	58342414	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr20:58342414C>T	ENST00000371015.1	+	5	1182	c.715C>T	c.(715-717)Ccc>Tcc	p.P239S	PHACTR3_ENST00000395639.4_Intron|PHACTR3_ENST00000355648.4_Missense_Mutation_p.P198S|PHACTR3_ENST00000361300.4_Intron|PHACTR3_ENST00000541461.1_Missense_Mutation_p.P198S|PHACTR3_ENST00000359926.3_Missense_Mutation_p.P236S|PHACTR3_ENST00000395636.2_Missense_Mutation_p.P198S	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	239	Pro-rich.					nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CACTCCGCCACCCAAGGCAAG	0.582																																						uc002yau.2		NA																	0				ovary(2)|pancreas(1)	3						c.(715-717)CCC>TCC		phosphatase and actin regulator 3 isoform 1							31.0	29.0	29.0					20																	58342414		2202	4299	6501	SO:0001583	missense	116154					nuclear matrix	actin binding|protein phosphatase inhibitor activity	g.chr20:58342414C>T	AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.715C>T	20.37:g.58342414C>T	ENSP00000360054:p.Pro239Ser					PHACTR3_uc002yat.2_Missense_Mutation_p.P236S|PHACTR3_uc010zzw.1_Missense_Mutation_p.P198S|PHACTR3_uc002yav.2_Missense_Mutation_p.P198S|PHACTR3_uc002yaw.2_Missense_Mutation_p.P198S|PHACTR3_uc002yax.2_Intron	p.P239S	NM_080672	NP_542403	Q96KR7	PHAR3_HUMAN	BRCA - Breast invasive adenocarcinoma(7;2.76e-09)		5	1182	+	all_lung(29;0.00344)		239			Pro-rich.		B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	ENST00000371015.1	37	c.715C>T	CCDS13480.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.783577	0.49891	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000541461;ENST00000355648;ENST00000395636	T;T;T;T;T	0.25250	1.81;1.81;1.86;1.86;1.86	4.56	4.56	0.56223	.	0.330838	0.30076	N	0.010461	T	0.30166	0.0756	L	0.42245	1.32	0.42276	D	0.992072	P;D	0.53619	0.651;0.961	B;P	0.49637	0.15;0.617	T	0.02639	-1.1130	10	0.27785	T	0.31	-18.6983	14.4893	0.67639	0.0:1.0:0.0:0.0	.	239;236	Q96KR7;B1AKX0	PHAR3_HUMAN;.	S	236;239;198;198;198	ENSP00000353002:P236S;ENSP00000360054:P239S;ENSP00000442483:P198S;ENSP00000347866:P198S;ENSP00000378998:P198S	ENSP00000347866:P198S	P	+	1	0	PHACTR3	57775809	0.996000	0.38824	0.943000	0.38184	0.985000	0.73830	3.648000	0.54410	2.077000	0.62373	0.460000	0.39030	CCC		0.582	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672		21	24	0	0	0	0	21	24				
NCAM2	4685	broad.mit.edu	37	21	22849748	22849748	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr21:22849748C>G	ENST00000400546.1	+	15	2282	c.2033C>G	c.(2032-2034)aCa>aGa	p.T678R	NCAM2_ENST00000284894.7_Missense_Mutation_p.T536R	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	678	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TCTGAACCGACAGTTTATGAA	0.368																																						uc002yld.1		NA																	0				ovary(4)	4						c.(2032-2034)ACA>AGA		neural cell adhesion molecule 2 precursor							89.0	83.0	85.0					21																	22849748		1870	4114	5984	SO:0001583	missense	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22849748C>G		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.2033C>G	21.37:g.22849748C>G	ENSP00000383392:p.Thr678Arg					NCAM2_uc011acb.1_Missense_Mutation_p.T536R	p.T678R	NM_004540	NP_004531	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	15	2282	+		Lung NSC(9;0.195)	678			Fibronectin type-III 2.|Extracellular (Potential).		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	c.2033C>G	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.411093	0.83340	.	.	ENSG00000154654	ENST00000400546;ENST00000284894	T;T	0.55413	0.52;0.52	5.8	5.8	0.92144	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.65228	0.2671	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.66921	-0.5801	10	0.87932	D	0	-27.0328	18.6224	0.91326	0.0:1.0:0.0:0.0	.	536;678	B7Z5K2;O15394	.;NCAM2_HUMAN	R	678;536	ENSP00000383392:T678R;ENSP00000284894:T536R	ENSP00000284894:T536R	T	+	2	0	NCAM2	21771619	1.000000	0.71417	0.997000	0.53966	0.948000	0.59901	6.907000	0.75724	2.741000	0.93983	0.650000	0.86243	ACA		0.368	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		16	14	0	0	0	0	16	14				
GART	2618	broad.mit.edu	37	21	34877966	34877966	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr21:34877966C>G	ENST00000381831.3	-	20	2890	c.2627G>C	c.(2626-2628)aGt>aCt	p.S876T	GART_ENST00000543717.1_Missense_Mutation_p.S428T|GART_ENST00000381839.3_Missense_Mutation_p.S876T|GART_ENST00000381815.4_Missense_Mutation_p.S876T	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	876	GART.				'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644)			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	GTCAATTGCACTGTCAAATTC	0.338																																						uc002yrx.2		NA																	0				ovary(1)	1						c.(2626-2628)AGT>ACT		phosphoribosylglycinamide formyltransferase,	Pemetrexed(DB00642)						79.0	76.0	77.0					21																	34877966		2203	4300	6503	SO:0001583	missense	2618				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding	g.chr21:34877966C>G	M32082	CCDS13627.1, CCDS13628.1	21q22.11	2012-10-02			ENSG00000159131	ENSG00000159131	2.1.2.2, 6.3.3.1, 6.3.4.13		4163	protein-coding gene	gene with protein product		138440		PRGS, PGFT		2050105	Standard	NM_001136005		Approved		uc002yrx.3	P22102	OTTHUMG00000065628	ENST00000381831.3:c.2627G>C	21.37:g.34877966C>G	ENSP00000371253:p.Ser876Thr					GART_uc002yrz.2_Missense_Mutation_p.S876T|GART_uc010gmd.2_Missense_Mutation_p.S538T|GART_uc002yry.2_Missense_Mutation_p.S876T	p.S876T	NM_000819	NP_000810	P22102	PUR2_HUMAN			20	2762	-			876			GART.		A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Missense_Mutation	SNP	ENST00000381831.3	37	c.2627G>C	CCDS13627.1	.	.	.	.	.	.	.	.	.	.	c	8.855	0.945496	0.18356	.	.	ENSG00000159131	ENST00000414353;ENST00000381815;ENST00000381831;ENST00000381839;ENST00000543717	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	5.63	-0.434	0.12283	Formyl transferase, N-terminal (3);	0.330849	0.36972	N	0.002309	T	0.56543	0.1992	N	0.21448	0.665	0.25779	N	0.984755	B	0.02656	0.0	B	0.01281	0.0	T	0.37079	-0.9721	10	0.13108	T	0.6	-5.9092	7.861	0.29509	0.0:0.5417:0.1552:0.3031	.	876	P22102	PUR2_HUMAN	T	140;876;876;876;428	ENSP00000371236:S876T;ENSP00000371253:S876T;ENSP00000371261:S876T;ENSP00000443579:S428T	ENSP00000371236:S876T	S	-	2	0	GART	33799836	0.000000	0.05858	0.792000	0.32020	0.975000	0.68041	-0.935000	0.03950	-0.303000	0.08856	-0.339000	0.08088	AGT		0.338	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140626.3	NM_000819		22	6	0	0	0	0	22	6				
PI4KA	5297	broad.mit.edu	37	22	21178651	21178651	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr22:21178651G>A	ENST00000572273.1	-	4	475	c.245C>T	c.(244-246)tCt>tTt	p.S82F	PI4KA_ENST00000255882.6_Missense_Mutation_p.S140F			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	82					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GGCCACATCAGACAGCAGAGT	0.443																																					GBM(136;1332 1831 3115 23601 50806)	uc002zsz.3		NA																	0				lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4						c.(244-246)TCT>TTT		phosphatidylinositol 4-kinase type 3 alpha							108.0	87.0	94.0					22																	21178651		2203	4300	6503	SO:0001583	missense	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21178651G>A	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.245C>T	22.37:g.21178651G>A	ENSP00000458238:p.Ser82Phe					PI4KA_uc010gsq.1_Missense_Mutation_p.S140F	p.S82F	NM_058004	NP_477352	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		4	476	-	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	82					Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37	c.245C>T		.	.	.	.	.	.	.	.	.	.	G	29.7	5.027841	0.93518	.	.	ENSG00000241973	ENST00000255882;ENST00000449120	T	0.47177	0.85	5.25	5.25	0.73442	.	0.059676	0.64402	D	0.000001	T	0.68128	0.2967	M	0.74881	2.28	0.80722	D	1	D;D	0.60160	0.977;0.987	P;P	0.62089	0.898;0.868	T	0.71517	-0.4569	10	0.87932	D	0	-17.3662	19.0551	0.93059	0.0:0.0:1.0:0.0	.	140;82	D3DX33;P42356	.;PI4KA_HUMAN	F	82	ENSP00000402437:S82F	ENSP00000255882:S82F	S	-	2	0	PI4KA	19508651	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.063000	0.76714	2.730000	0.93505	0.655000	0.94253	TCT		0.443	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		18	33	0	0	0	0	18	33				
GRM2	2912	broad.mit.edu	37	3	51743449	51743449	+	Splice_Site	SNP	G	G	A			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr3:51743449G>A	ENST00000395052.3	+	2	684	c.450G>A	c.(448-450)caG>caA	p.Q150Q	GRM2_ENST00000442933.2_Splice_Site_p.Q150Q|GRM2_ENST00000475478.1_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	150					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TCTCCATCCAGGTACGTGGAA	0.582																																						uc010hlv.2		NA																	0				lung(1)	1						c.(448-450)CAG>CAA		glutamate receptor, metabotropic 2 isoform a	Acamprosate(DB00659)|Nicotine(DB00184)						19.0	17.0	18.0					3																	51743449		2198	4294	6492	SO:0001630	splice_region_variant	2912				synaptic transmission	integral to plasma membrane		g.chr3:51743449G>A	L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.450+1G>A	3.37:g.51743449G>A						GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA	p.Q150Q	NM_000839	NP_000830	Q14416	GRM2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	2	689	+			150			Extracellular (Potential).		B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Silent	SNP	ENST00000395052.3	37	c.450G>A	CCDS2834.1																																																																																				0.582	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1		Silent	6	4	0	0	0	0	6	4				
IMPG2	50939	broad.mit.edu	37	3	100963028	100963028	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr3:100963028G>C	ENST00000193391.7	-	13	2334	c.2147C>G	c.(2146-2148)tCa>tGa	p.S716*		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	716					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	TTTGGTAACTGAGTAATCATC	0.473																																						uc003duq.1		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(2146-2148)TCA>TGA		interphotoreceptor matrix proteoglycan 2							77.0	62.0	67.0					3																	100963028		2203	4300	6503	SO:0001587	stop_gained	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:100963028G>C	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.2147C>G	3.37:g.100963028G>C	ENSP00000193391:p.Ser716*					IMPG2_uc011bhe.1_Nonsense_Mutation_p.S579*	p.S716*	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN			13	2350	-			716			Extracellular (Potential).		A8MWT5|Q9UKD4|Q9UKK5	Nonsense_Mutation	SNP	ENST00000193391.7	37	c.2147C>G	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.368021	0.82463	.	.	ENSG00000081148	ENST00000193391	.	.	.	5.42	4.32	0.51571	.	0.000000	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-9.4446	9.9691	0.41743	0.1286:0.0:0.8714:0.0	.	.	.	.	X	716	.	ENSP00000193391:S716X	S	-	2	0	IMPG2	102445718	0.993000	0.37304	0.923000	0.36655	0.072000	0.16883	3.131000	0.50515	2.711000	0.92665	0.561000	0.74099	TCA		0.473	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			14	7	0	0	0	0	14	7				
KIAA1407	57577	broad.mit.edu	37	3	113721347	113721347	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr3:113721347G>A	ENST00000295878.3	-	12	2163	c.2017C>T	c.(2017-2019)Cgg>Tgg	p.R673W	KIAA1407_ENST00000545063.1_3'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	673										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GCCAAGATCCGCCTACATTCA	0.328																																						uc003eax.2		NA																	0				ovary(2)	2						c.(2017-2019)CGG>TGG		hypothetical protein LOC57577							111.0	102.0	105.0					3																	113721347		2203	4299	6502	SO:0001583	missense	57577							g.chr3:113721347G>A	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.2017C>T	3.37:g.113721347G>A	ENSP00000295878:p.Arg673Trp					KIAA1407_uc011bin.1_RNA	p.R673W	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN			12	2164	-			673			Potential.		B4DYL1|Q9P2E0	Missense_Mutation	SNP	ENST00000295878.3	37	c.2017C>T	CCDS2977.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.689189	0.48097	.	.	ENSG00000163617	ENST00000295878	T	0.33654	1.4	5.35	1.29	0.21616	.	0.301147	0.36200	N	0.002740	T	0.31918	0.0812	M	0.71581	2.175	0.58432	D	0.999999	B	0.21309	0.054	B	0.12156	0.007	T	0.19582	-1.0301	10	0.87932	D	0	.	4.9469	0.13994	0.1663:0.0:0.392:0.4417	.	673	Q8NCU4	K1407_HUMAN	W	673	ENSP00000295878:R673W	ENSP00000295878:R673W	R	-	1	2	KIAA1407	115204037	0.997000	0.39634	0.968000	0.41197	0.587000	0.36485	2.294000	0.43567	0.465000	0.27167	0.655000	0.94253	CGG		0.328	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		38	8	0	0	0	0	38	8				
SLCO2A1	6578	broad.mit.edu	37	3	133666147	133666147	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr3:133666147G>C	ENST00000310926.4	-	9	1521	c.1248C>G	c.(1246-1248)ttC>ttG	p.F416L	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.F340L	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	416					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	ATCCCATGAAGAACAAAGGAA	0.493																																						uc003eqa.3		NA																	0				central_nervous_system(1)	1						c.(1246-1248)TTC>TTG		solute carrier organic anion transporter family,							127.0	116.0	120.0					3																	133666147		2203	4300	6503	SO:0001583	missense	6578				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	g.chr3:133666147G>C		CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"""Solute carriers"""	10955	protein-coding gene	gene with protein product		601460	"""solute carrier family 21 (prostaglandin transporter), member 2"", ""matrin F/G 1"""	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.1248C>G	3.37:g.133666147G>C	ENSP00000311291:p.Phe416Leu					SLCO2A1_uc003eqb.3_Missense_Mutation_p.F340L|SLCO2A1_uc011blv.1_Missense_Mutation_p.F235L	p.F416L	NM_005630	NP_005621	Q92959	SO2A1_HUMAN			9	1522	-			416			Extracellular (Potential).		Q86V98|Q8IUN2	Missense_Mutation	SNP	ENST00000310926.4	37	c.1248C>G	CCDS3084.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.278802	0.40294	.	.	ENSG00000174640	ENST00000310926;ENST00000493729	T;T	0.54675	0.56;0.56	5.59	5.59	0.84812	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.69797	0.3151	L	0.55743	1.74	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.996;0.999	T	0.66732	-0.5849	10	0.40728	T	0.16	.	19.601	0.95561	0.0:0.0:1.0:0.0	.	235;340;416	B7Z8J8;E7EU40;Q92959	.;.;SO2A1_HUMAN	L	416;340	ENSP00000311291:F416L;ENSP00000418893:F340L	ENSP00000311291:F416L	F	-	3	2	SLCO2A1	135148837	1.000000	0.71417	1.000000	0.80357	0.296000	0.27459	6.243000	0.72384	2.626000	0.88956	0.655000	0.94253	TTC		0.493	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630		36	55	0	0	0	0	36	55				
PXYLP1	92370	broad.mit.edu	37	3	140998227	140998227	+	Silent	SNP	C	C	T			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr3:140998227C>T	ENST00000286353.4	+	4	383	c.246C>T	c.(244-246)gcC>gcT	p.A82A	RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000393010.2_Silent_p.A82A|ACPL2_ENST00000502783.1_Silent_p.A44A|ACPL2_ENST00000504264.1_Silent_p.A65A|ACPL2_ENST00000508812.1_Silent_p.A73A|ACPL2_ENST00000393007.1_Silent_p.A66A	NM_001037172.1|NM_001282728.1	NP_001032249.1|NP_001269657.1	Q8TE99	PXYP1_HUMAN		82						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						CAGGTCATGCCCCGCATCATT	0.498											OREG0015847	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003etu.2		NA																	0				skin(1)	1						c.(244-246)GCC>GCT		acid phosphatase-like 2 precursor							178.0	154.0	162.0					3																	140998227		2203	4300	6503	SO:0001819	synonymous_variant	92370					extracellular region	acid phosphatase activity	g.chr3:140998227C>T																												ENST00000286353.4:c.246C>T	3.37:g.140998227C>T			OREG0015847	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1660	ACPL2_uc003etv.2_Silent_p.A82A|ACPL2_uc011bna.1_Silent_p.A44A|ACPL2_uc011bnb.1_Silent_p.A65A	p.A82A	NM_152282	NP_689495	Q8TE99	ACPL2_HUMAN			6	545	+			82					D3DNF5|Q49AJ2|W0TR04	Silent	SNP	ENST00000286353.4	37	c.246C>T	CCDS3116.1																																																																																				0.498	ACPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359533.2			145	28	0	0	0	0	145	28				
ECE2	9718	broad.mit.edu	37	3	183995809	183995809	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr3:183995809C>A	ENST00000402825.3	+	5	929	c.929C>A	c.(928-930)gCc>gAc	p.A310D	ECE2_ENST00000357474.5_Missense_Mutation_p.A238D|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Missense_Mutation_p.A192D|ECE2_ENST00000359140.4_Missense_Mutation_p.A163D	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	310	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GAGCTGGGAGCCCAGCCACTG	0.577																																						uc003fni.3		NA																	0				ovary(2)|skin(2)	4						c.(928-930)GCC>GAC		endothelin converting enzyme 2 isoform A							63.0	59.0	60.0					3																	183995809		2203	4300	6503	SO:0001583	missense	9718				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	g.chr3:183995809C>A	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.929C>A	3.37:g.183995809C>A	ENSP00000384223:p.Ala310Asp					ECE2_uc011brg.1_Missense_Mutation_p.A238D|ECE2_uc011brh.1_Missense_Mutation_p.A163D|ECE2_uc003fnl.3_Missense_Mutation_p.A238D|ECE2_uc003fnm.3_Missense_Mutation_p.A192D|ECE2_uc003fnk.3_Missense_Mutation_p.A163D|ECE2_uc011bri.1_Missense_Mutation_p.A225D|ECE2_uc010hxv.2_5'UTR	p.A310D	NM_014693	NP_055508	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		5	967	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		310			Lumenal (Potential).|Endothelin-converting enzyme 2 region.		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	ENST00000402825.3	37	c.929C>A	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	C	24.2	4.507413	0.85282	.	.	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474;ENST00000430587	T;T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85;-0.85	5.17	5.17	0.71159	Peptidase M13 (1);	0.178624	0.49916	D	0.000133	D	0.82531	0.5057	L	0.60904	1.88	0.58432	D	0.999998	D;D;B;D;D;D	0.76494	0.997;0.999;0.104;0.996;0.992;0.994	D;D;P;D;D;D	0.91635	0.995;0.999;0.509;0.992;0.984;0.993	T	0.82123	-0.0613	10	0.49607	T	0.09	-22.5313	12.4756	0.55811	0.1672:0.8328:0.0:0.0	.	163;238;192;238;163;310	B4DKF3;B7Z1P1;O60344-2;O60344-5;O60344-3;O60344	.;.;.;.;.;ECE2_HUMAN	D	310;163;192;238;184	ENSP00000384223:A310D;ENSP00000352052:A163D;ENSP00000385846:A192D;ENSP00000350066:A238D;ENSP00000398444:A184D	ENSP00000350066:A238D	A	+	2	0	ECE2	185478503	0.970000	0.33590	1.000000	0.80357	0.934000	0.57294	4.258000	0.58822	2.700000	0.92200	0.561000	0.74099	GCC		0.577	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		120	13	1	0	1.37e-49	5.49e-49	120	13				
CABS1	85438	broad.mit.edu	37	4	71201610	71201610	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr4:71201610T>C	ENST00000273936.5	+	1	928	c.854T>C	c.(853-855)cTg>cCg	p.L285P		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	285					spermatogenesis (GO:0007283)	mitochondrial inner membrane (GO:0005743)|motile cilium (GO:0031514)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GAAGATACTCTGCTAACTGAT	0.418																																						uc003hff.2		NA																	0					0						c.(853-855)CTG>CCG		testis development protein NYD-SP26							103.0	97.0	99.0					4																	71201610		2203	4300	6503	SO:0001583	missense	85438					flagellum	calcium ion binding	g.chr4:71201610T>C	AF380838	CCDS3539.1	4q13.3	2013-10-11	2011-01-25	2011-01-25	ENSG00000145309	ENSG00000145309			30710	protein-coding gene	gene with protein product	"""casein-like phosphoprotein"""		"""chromosome 4 open reading frame 35"""	C4orf35		19208547, 19271754	Standard	NM_033122		Approved	NYD-SP26, FLJ32897, CLPH	uc003hff.3	Q96KC9	OTTHUMG00000129405	ENST00000273936.5:c.854T>C	4.37:g.71201610T>C	ENSP00000273936:p.Leu285Pro						p.L285P	NM_033122	NP_149113	Q96KC9	CABS1_HUMAN			1	940	+		all_hematologic(202;0.196)	285					B2RCB5|Q86UE0|Q96M17	Missense_Mutation	SNP	ENST00000273936.5	37	c.854T>C	CCDS3539.1	.	.	.	.	.	.	.	.	.	.	T	6.897	0.535112	0.13188	.	.	ENSG00000145309	ENST00000273936	T	0.25085	1.82	3.92	-1.99	0.07457	.	1.478610	0.04506	N	0.382162	T	0.15998	0.0385	N	0.17082	0.46	0.18873	N	0.999983	B	0.11235	0.004	B	0.13407	0.009	T	0.31052	-0.9957	10	0.33940	T	0.23	-19.8969	8.2259	0.31568	0.0:0.3562:0.0:0.6438	.	285	Q96KC9	CABS1_HUMAN	P	285	ENSP00000273936:L285P	ENSP00000273936:L285P	L	+	2	0	CABS1	71236199	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.262000	0.08682	-0.280000	0.09154	-0.912000	0.02778	CTG		0.418	CABS1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251561.3	NM_033122		19	12	0	0	0	0	19	12				
TIFA	92610	broad.mit.edu	37	4	113199415	113199415	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr4:113199415G>A	ENST00000361717.3	-	2	439	c.158C>T	c.(157-159)tCc>tTc	p.S53F	TIFA_ENST00000500655.2_Missense_Mutation_p.S53F	NM_052864.2	NP_443096.1	Q96CG3	TIFA_HUMAN	TRAF-interacting protein with forkhead-associated domain	53	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)					breast(2)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)	6		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00172)		ACAGATGTTGGAATTTCGGCC	0.403																																						uc003ial.2		NA																	0				breast(1)	1						c.(157-159)TCC>TTC		TRAF-interacting protein with a							80.0	91.0	87.0					4																	113199415		2198	4293	6491	SO:0001583	missense	92610						protein binding	g.chr4:113199415G>A	BC008294	CCDS34051.1	4q25	2008-03-17				ENSG00000145365			19075	protein-coding gene	gene with protein product	"""TRAF2 binding protein"", ""TRAF6 binding protein"""	609028				1179819	Standard	NM_052864		Approved	MGC20791, T2BP, T6BP, TIFAA	uc003ial.3	Q96CG3		ENST00000361717.3:c.158C>T	4.37:g.113199415G>A	ENSP00000354911:p.Ser53Phe						p.S53F	NM_052864	NP_443096	Q96CG3	TIFA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00172)	2	440	-		Ovarian(17;0.0443)|Hepatocellular(203;0.217)	53			FHA.			Missense_Mutation	SNP	ENST00000361717.3	37	c.158C>T	CCDS34051.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.024629	0.54683	.	.	ENSG00000145365	ENST00000361717;ENST00000438746;ENST00000500655	T;T	0.37915	1.17;1.17	5.92	5.92	0.95590	Forkhead-associated (FHA) domain (4);	0.569504	0.20282	N	0.095431	T	0.41488	0.1161	L	0.60455	1.87	0.09310	N	1	P	0.46327	0.876	P	0.47744	0.556	T	0.37619	-0.9698	10	0.28530	T	0.3	-5.6421	11.5584	0.50761	0.0:0.1341:0.7268:0.1391	.	53	Q96CG3	TIFA_HUMAN	F	53	ENSP00000354911:S53F;ENSP00000424231:S53F	ENSP00000354911:S53F	S	-	2	0	TIFA	113418864	0.988000	0.35896	0.189000	0.23252	0.895000	0.52256	2.276000	0.43408	2.822000	0.97130	0.650000	0.86243	TCC		0.403	TIFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363647.2	NM_052864		41	24	0	0	0	0	41	24				
ADCY2	108	broad.mit.edu	37	5	7789843	7789843	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr5:7789843G>A	ENST00000338316.4	+	20	2647	c.2558G>A	c.(2557-2559)cGc>cAc	p.R853H	ADCY2_ENST00000537121.1_Missense_Mutation_p.R673H	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	853					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						AACCTGAACCGCGTGCTGCTG	0.532																																						uc003jdz.1		NA																	0				ovary(5)|pancreas(1)|skin(1)	7						c.(2557-2559)CGC>CAC		adenylate cyclase 2							81.0	83.0	82.0					5																	7789843		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7789843G>A	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2558G>A	5.37:g.7789843G>A	ENSP00000342952:p.Arg853His					ADCY2_uc011cmo.1_Missense_Mutation_p.R673H|ADCY2_uc010itm.1_Missense_Mutation_p.R49H	p.R853H	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			20	2625	+			853			Cytoplasmic (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.2558G>A	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	29.0	4.971818	0.92919	.	.	ENSG00000078295	ENST00000338316;ENST00000382532;ENST00000541993;ENST00000537121	T;D	0.82619	-1.15;-1.63	5.43	5.43	0.79202	Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.000000	0.85682	D	0.000000	D	0.90940	0.7152	M	0.69823	2.125	0.58432	D	0.999998	D;D	0.89917	1.0;0.968	D;P	0.87578	0.998;0.534	D	0.91369	0.5118	10	0.66056	D	0.02	.	19.2668	0.93990	0.0:0.0:1.0:0.0	.	673;853	B7Z2C1;Q08462	.;ADCY2_HUMAN	H	853;6;686;673	ENSP00000342952:R853H;ENSP00000444803:R673H	ENSP00000342952:R853H	R	+	2	0	ADCY2	7842843	1.000000	0.71417	0.996000	0.52242	0.852000	0.48524	9.509000	0.98002	2.547000	0.85894	0.591000	0.81541	CGC		0.532	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		35	77	0	0	0	0	35	77				
PRDM9	56979	broad.mit.edu	37	5	23526620	23526620	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr5:23526620G>A	ENST00000296682.3	+	11	1605	c.1423G>A	c.(1423-1425)Gcc>Acc	p.A475T		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	475					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GATTTCAAGGGCCTTTTCTAG	0.453										HNSCC(3;0.000094)																												uc003jgo.2		NA																	0				ovary(3)|large_intestine(2)|pancreas(1)	6						c.(1423-1425)GCC>ACC		PR domain containing 9							33.0	34.0	34.0					5																	23526620		2152	4264	6416	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23526620G>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1423G>A	5.37:g.23526620G>A	ENSP00000296682:p.Ala475Thr	HNSCC(3;0.000094)					p.A475T	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			11	1605	+			475					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.1423G>A	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	5.147	0.212785	0.09757	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.08984	3.03	2.71	-0.26	0.12967	.	0.962749	0.08463	N	0.942140	T	0.06690	0.0171	L	0.46157	1.445	0.09310	N	1	B	0.21452	0.056	B	0.18263	0.021	T	0.46925	-0.9156	10	0.07175	T	0.84	-1.331	6.6195	0.22796	0.3886:0.0:0.6114:0.0	.	475	Q9NQV7	PRDM9_HUMAN	T	475;269	ENSP00000296682:A475T	ENSP00000253473:A269T	A	+	1	0	PRDM9	23562377	0.000000	0.05858	0.002000	0.10522	0.007000	0.05969	-0.069000	0.11542	-0.094000	0.12374	-0.362000	0.07510	GCC		0.453	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		10	23	0	0	0	0	10	23				
PCDHGA12	26025	broad.mit.edu	37	5	140812032	140812032	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr5:140812032C>T	ENST00000252085.3	+	1	1848	c.1706C>T	c.(1705-1707)aCg>aTg	p.T569M	PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	569					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCTCCCCACGGACGGTTCC	0.677																																						uc003lkt.1		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1705-1707)ACG>ATG		protocadherin gamma subfamily A, 12 isoform 1							116.0	130.0	125.0					5																	140812032		2203	4300	6503	SO:0001583	missense	26025				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140812032C>T	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.1706C>T	5.37:g.140812032C>T	ENSP00000252085:p.Thr569Met					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.T569M	p.T569M	NM_003735	NP_003726	O60330	PCDGC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1875	+			569			Extracellular (Potential).		O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	c.1706C>T	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	c	6.145	0.394941	0.11638	.	.	ENSG00000253159	ENST00000252085	T	0.51325	0.71	4.89	4.02	0.46733	Cadherin-like (1);	.	.	.	.	T	0.38108	0.1028	L	0.48642	1.525	0.09310	N	1	P;P	0.43578	0.811;0.714	B;B	0.38683	0.279;0.144	T	0.29852	-0.9998	9	0.54805	T	0.06	.	6.4558	0.21928	0.133:0.6632:0.1291:0.0746	.	569;569	O60330-2;O60330	.;PCDGC_HUMAN	M	569	ENSP00000252085:T569M	ENSP00000252085:T569M	T	+	2	0	PCDHGA12	140792216	0.000000	0.05858	0.252000	0.24328	0.387000	0.30353	0.117000	0.15583	1.199000	0.43173	0.556000	0.70494	ACG		0.677	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		91	42	0	0	0	0	91	42				
SLIT3	6586	broad.mit.edu	37	5	168112761	168112761	+	Silent	SNP	G	G	A	rs148625020		TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr5:168112761G>A	ENST00000519560.1	-	31	3905	c.3486C>T	c.(3484-3486)ttC>ttT	p.F1162F	SLIT3_ENST00000404867.3_Silent_p.F1162F|SLIT3_ENST00000332966.8_Silent_p.F1169F	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1162	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.F1162F(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTTGCCCACGAAGTTGACAG	0.657																																					Ovarian(29;311 847 10864 17279 24903)	uc003mab.2		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(3)|skin(1)	4						c.(3484-3486)TTC>TTT		slit homolog 3 precursor		G		1,4405	2.1+/-5.4	0,1,2202	71.0	72.0	71.0		3486	-0.6	1.0	5	dbSNP_134	71	0,8600		0,0,4300	no	coding-synonymous	SLIT3	NM_003062.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1162/1524	168112761	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168112761G>A	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.3486C>T	5.37:g.168112761G>A						SLIT3_uc010jjg.2_Silent_p.F1169F	p.F1162F	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		31	3906	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1162			Laminin G-like.		A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	ENST00000519560.1	37	c.3486C>T	CCDS4369.1																																																																																				0.657	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		24	14	0	0	0	0	24	14				
RNF39	80352	broad.mit.edu	37	6	30043353	30043353	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr6:30043353G>A	ENST00000244360.6	-	1	311	c.214C>T	c.(214-216)Ccc>Tcc	p.P72S	RNF39_ENST00000376751.3_Missense_Mutation_p.P72S	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	72						cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)										CCCAGCTCGGGCGCATCCATG	0.711																																					NSCLC(8;188 360 1520 20207 31481)	uc003npe.2		NA																	0					0						c.(214-216)CCC>TCC		ring finger protein 39 isoform 1							12.0	15.0	14.0					6																	30043353		2198	4294	6492	SO:0001583	missense	80352					cytoplasm	zinc ion binding	g.chr6:30043353G>A	AF238315	CCDS4673.1, CCDS4674.1	6p21.3	2013-01-09			ENSG00000204618	ENSG00000204618		"""RING-type (C3HC4) zinc fingers"""	18064	protein-coding gene	gene with protein product		607524				11130983, 11716498	Standard	NM_170769		Approved	HZFw1, LIRF	uc003npe.3	Q9H2S5	OTTHUMG00000031288	ENST00000244360.6:c.214C>T	6.37:g.30043353G>A	ENSP00000244360:p.Pro72Ser					RNF39_uc003npd.2_Missense_Mutation_p.P72S	p.P72S	NM_025236	NP_079512	Q9H2S5	RNF39_HUMAN			1	276	-			72					A2BEK3|A6NCD6|B0S858|Q5SPM8|Q5SPM9|Q5SPN0|Q5SRJ9|Q5SRK1|Q5SS29|Q9H2S3|Q9H2S4	Missense_Mutation	SNP	ENST00000244360.6	37	c.214C>T	CCDS4673.1	.	.	.	.	.	.	.	.	.	.	g	13.02	2.111402	0.37242	.	.	ENSG00000204618	ENST00000376751;ENST00000244360;ENST00000376746	T;T	0.70282	0.01;-0.47	3.81	-0.975	0.10289	.	.	.	.	.	T	0.17280	0.0415	N	0.05199	-0.095	0.20074	N	0.999933	B;B	0.14012	0.005;0.009	B;B	0.10450	0.002;0.005	T	0.16276	-1.0408	9	0.15066	T	0.55	.	1.6872	0.02844	0.2247:0.1573:0.4578:0.1601	.	72;72	Q9H2S5;Q9H2S5-2	RNF39_HUMAN;.	S	72	ENSP00000365942:P72S;ENSP00000244360:P72S	ENSP00000244360:P72S	P	-	1	0	RNF39	30151332	0.000000	0.05858	0.845000	0.33349	0.921000	0.55340	-0.398000	0.07259	0.141000	0.18875	0.436000	0.28706	CCC		0.711	RNF39-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076625.3	NM_170769		10	7	0	0	0	0	10	7				
ROS1	6098	broad.mit.edu	37	6	117658469	117658469	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr6:117658469G>A	ENST00000368508.3	-	31	5312	c.5114C>T	c.(5113-5115)tCa>tTa	p.S1705L	ROS1_ENST00000368507.3_Missense_Mutation_p.S1699L|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1705	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TTGGCTGCATGAAGTTTTAAC	0.308			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	uc003pxp.1		NA		Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	GOPC|ROS1		glioblastoma|NSCLC		0				lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25						c.(5113-5115)TCA>TTA		proto-oncogene c-ros-1 protein precursor							90.0	88.0	89.0					6																	117658469		2202	4299	6501	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117658469G>A	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.5114C>T	6.37:g.117658469G>A	ENSP00000357494:p.Ser1705Leu					ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	p.S1705L	NM_002944	NP_002935	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	31	5313	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	1705			Fibronectin type-III 8.|Extracellular (Potential).		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.5114C>T	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.670987	0.67814	.	.	ENSG00000047936	ENST00000368508;ENST00000368507;ENST00000403284	T;T;T	0.55760	0.5;0.5;0.58	5.03	4.14	0.48551	.	0.287012	0.24547	N	0.037585	T	0.25791	0.0628	N	0.17082	0.46	0.80722	D	1	P	0.38978	0.652	B	0.44224	0.444	T	0.05305	-1.0893	10	0.33940	T	0.23	.	8.6957	0.34293	0.1028:0.0:0.8972:0.0	.	1705	P08922	ROS1_HUMAN	L	1705;1699;12	ENSP00000357494:S1705L;ENSP00000357493:S1699L;ENSP00000384647:S12L	ENSP00000357493:S1699L	S	-	2	0	ROS1	117765162	0.324000	0.24652	0.993000	0.49108	0.962000	0.63368	2.113000	0.41902	2.498000	0.84270	0.655000	0.94253	TCA		0.308	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			30	35	0	0	0	0	30	35				
SERINC1	57515	broad.mit.edu	37	6	122766322	122766322	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr6:122766322T>C	ENST00000339697.4	-	10	1313	c.1229A>G	c.(1228-1230)tAt>tGt	p.Y410C		NM_020755.2	NP_065806.1	Q9NRX5	SERC1_HUMAN	serine incorporator 1	410					L-serine transport (GO:0015825)|phosphatidylserine metabolic process (GO:0006658)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		AGAGGGTTCATACCTAAAATT	0.428																																						uc003pyy.1		NA																	0				ovary(1)	1						c.(1228-1230)TAT>TGT		serine incorporator 1							60.0	58.0	59.0					6																	122766322		2203	4300	6503	SO:0001583	missense	57515				phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	L-serine transmembrane transporter activity|protein binding	g.chr6:122766322T>C	AF087902	CCDS5125.1	6q22.32	2006-02-09	2005-10-14	2005-10-14	ENSG00000111897	ENSG00000111897			13464	protein-coding gene	gene with protein product		614548	"""tumor differentially expressed 2"""	TDE2		10637174	Standard	NM_020755		Approved	TMS-2, TDE1L, KIAA1253	uc003pyy.1	Q9NRX5	OTTHUMG00000015487	ENST00000339697.4:c.1229A>G	6.37:g.122766322T>C	ENSP00000342962:p.Tyr410Cys					SERINC1_uc003pyx.1_RNA	p.Y410C	NM_020755	NP_065806	Q9NRX5	SERC1_HUMAN		GBM - Glioblastoma multiforme(226;0.126)	10	1299	-			410			Lumenal (Potential).		B3KY69|E1P565|O75655|Q7Z2F5|Q8TAG1|Q9NTH8|Q9ULG7	Missense_Mutation	SNP	ENST00000339697.4	37	c.1229A>G	CCDS5125.1	.	.	.	.	.	.	.	.	.	.	T	19.54	3.847679	0.71603	.	.	ENSG00000111897	ENST00000339697;ENST00000368454	T;T	0.14022	2.54;2.54	5.11	5.11	0.69529	.	0.169119	0.51477	D	0.000095	T	0.04137	0.0115	N	0.14661	0.345	0.48341	D	0.999635	P	0.40282	0.711	B	0.38562	0.276	T	0.25328	-1.0135	10	0.87932	D	0	-17.4467	10.4499	0.44516	0.0:0.0:0.3016:0.6984	.	410	Q9NRX5	SERC1_HUMAN	C	410	ENSP00000342962:Y410C;ENSP00000357439:Y410C	ENSP00000342962:Y410C	Y	-	2	0	SERINC1	122808021	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	3.211000	0.51137	2.148000	0.66965	0.533000	0.62120	TAT		0.428	SERINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042031.2	NM_020755		17	15	0	0	0	0	17	15				
LAMA2	3908	broad.mit.edu	37	6	129826387	129826387	+	Missense_Mutation	SNP	G	G	C	rs554254469		TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr6:129826387G>C	ENST00000421865.2	+	61	8639	c.8590G>C	c.(8590-8592)Gat>Cat	p.D2864H		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2864	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCTTTATGTAGATGGGGCTTC	0.413																																						uc003qbn.2		NA																	0				ovary(8)|breast(1)|skin(1)	10						c.(8590-8592)GAT>CAT		laminin alpha 2 subunit isoform a precursor							91.0	93.0	92.0					6																	129826387		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129826387G>C	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.8590G>C	6.37:g.129826387G>C	ENSP00000400365:p.Asp2864His					LAMA2_uc003qbo.2_Missense_Mutation_p.D2860H|uc003qbq.2_Intron	p.D2864H	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	60	8695	+			2864			Laminin G-like 4.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.8590G>C	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.585723	0.66105	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	D	0.86432	-2.12	5.72	5.72	0.89469	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.94108	0.8111	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93653	0.6975	9	.	.	.	.	19.8946	0.96949	0.0:0.0:1.0:0.0	.	2865;2864	A6NF00;P24043	.;LAMA2_HUMAN	H	2864;2863;2864;882	ENSP00000400365:D2864H	.	D	+	1	0	LAMA2	129868080	1.000000	0.71417	0.988000	0.46212	0.291000	0.27294	6.368000	0.73104	2.711000	0.92665	0.655000	0.94253	GAT		0.413	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			34	35	0	0	0	0	34	35				
SAMD3	154075	broad.mit.edu	37	6	130505272	130505272	+	Silent	SNP	G	G	A			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr6:130505272G>A	ENST00000368134.2	-	9	1238	c.630C>T	c.(628-630)ttC>ttT	p.F210F	SAMD3_ENST00000437477.2_Silent_p.F210F|SAMD3_ENST00000324172.6_Silent_p.F210F|SAMD3_ENST00000532763.1_Silent_p.F208F|SAMD3_ENST00000457563.2_Silent_p.F234F|SAMD3_ENST00000439090.2_Silent_p.F210F|SAMD3_ENST00000533296.1_5'UTR	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	210										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		CCTCATCCAGGAAAGGGTGGG	0.468																																						uc003qbv.2		NA																	0				ovary(1)	1						c.(628-630)TTC>TTT		sterile alpha motif domain containing 3 isoform							103.0	88.0	93.0					6																	130505272		2203	4300	6503	SO:0001819	synonymous_variant	154075							g.chr6:130505272G>A	AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"""Sterile alpha motif (SAM) domain containing"""	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.630C>T	6.37:g.130505272G>A						SAMD3_uc003qbx.2_Silent_p.F210F|SAMD3_uc003qbw.2_Silent_p.F210F|SAMD3_uc010kfg.1_Silent_p.F210F|SAMD3_uc003qby.2_Silent_p.F210F|SAMD3_uc003qbz.1_Silent_p.F169F	p.F210F	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN		GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)	8	956	-			210					B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Silent	SNP	ENST00000368134.2	37	c.630C>T	CCDS34539.1																																																																																				0.468	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042197.3	NM_152552		26	34	0	0	0	0	26	34				
BCLAF1	9774	broad.mit.edu	37	6	136582515	136582515	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr6:136582515C>A	ENST00000531224.1	-	12	2897	c.2645G>T	c.(2644-2646)gGt>gTt	p.G882V	BCLAF1_ENST00000392348.2_Missense_Mutation_p.G831V|BCLAF1_ENST00000527536.1_Missense_Mutation_p.G833V|BCLAF1_ENST00000031135.9_Missense_Mutation_p.G100V|BCLAF1_ENST00000353331.4_Missense_Mutation_p.G831V|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000530767.1_Missense_Mutation_p.G709V|BCLAF1_ENST00000527759.1_Missense_Mutation_p.G880V	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	882					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AGGACTGCTACCTGATTTTTT	0.438																																					Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1		NA																	0				ovary(1)	1						c.(2644-2646)GGT>GTT		BCL2-associated transcription factor 1 isoform							235.0	235.0	235.0					6																	136582515		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136582515C>A	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.2645G>T	6.37:g.136582515C>A	ENSP00000435210:p.Gly882Val					BCLAF1_uc011edb.1_Missense_Mutation_p.G161V|BCLAF1_uc003qgw.1_Missense_Mutation_p.G709V|BCLAF1_uc003qgy.1_Missense_Mutation_p.G831V|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.G880V	p.G882V	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	12	2898	-	Colorectal(23;0.24)		882					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.2645G>T	CCDS5177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.80|19.80	3.894311|3.894311	0.72639|0.72639	.|.	.|.	ENSG00000029363|ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000031135;ENST00000392348|ENST00000534762	T;T;T;T;T;T;T|.	0.48836|.	4.3;4.3;4.3;2.33;4.3;0.8;4.3|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	0.085766|.	0.50627|.	N|.	0.000110|.	T|T	0.61999|0.61999	0.2392|0.2392	L|L	0.48642|0.48642	1.525|1.525	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;0.99|.	D;D;D;D;D|.	0.97110|.	0.999;1.0;0.999;0.999;0.986|.	T|T	0.58064|0.58064	-0.7702|-0.7702	10|5	0.87932|.	D|.	0|.	-5.5083|-5.5083	19.3961|19.3961	0.94607|0.94607	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	880;161;831;882;709|.	Q9NYF8-2;B7Z8J9;Q9NYF8-3;Q9NYF8;Q9NYF8-4|.	.;.;.;BCLF1_HUMAN;.|.	V|S	882;831;833;709;880;100;831|148	ENSP00000435210:G882V;ENSP00000229446:G831V;ENSP00000435441:G833V;ENSP00000436501:G709V;ENSP00000434826:G880V;ENSP00000031135:G100V;ENSP00000376159:G831V|.	ENSP00000031135:G100V|.	G|R	-|-	2|3	0|2	BCLAF1|BCLAF1	136624208|136624208	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.705000|4.705000	0.61838|0.61838	2.581000|2.581000	0.87130|0.87130	0.655000|0.655000	0.94253|0.94253	GGT|AGG		0.438	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		55	245	1	0	3.46e-24	1.36e-23	55	245				
TCP10	6953	broad.mit.edu	37	6	167790110	167790110	+	Missense_Mutation	SNP	C	C	A	rs201005141		TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr6:167790110C>A	ENST00000397829.4	-	5	667	c.500G>T	c.(499-501)cGt>cTt	p.R167L	TCP10_ENST00000366827.2_Missense_Mutation_p.R167L	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	194						cytosol (GO:0005829)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		TCTGTCTTGACGTCTCCCGGG	0.507																																						uc003qvv.1		NA																	0				breast(1)	1						c.(499-501)CGT>CTT		t-complex 10							34.0	33.0	33.0					6																	167790110		1384	2863	4247	SO:0001583	missense	6953					cytosol		g.chr6:167790110C>A	U03399	CCDS43527.1	6q27	2012-09-20	2012-09-20		ENSG00000203690	ENSG00000203690			11656	protein-coding gene	gene with protein product		187020	"""t-complex 10 (a murine tcp homolog)"", ""t-complex 10 (mouse)"", ""t-complex 10 homolog (mouse)"""			8111376	Standard	NM_004610		Approved		uc003qvv.1	Q12799	OTTHUMG00000016026	ENST00000397829.4:c.500G>T	6.37:g.167790110C>A	ENSP00000380929:p.Arg167Leu					TCP10_uc003qvu.2_Missense_Mutation_p.R167L|TCP10_uc003qvw.2_Missense_Mutation_p.R143L	p.R167L	NM_004610	NP_004601	Q12799	TCP10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)	5	712	-		Breast(66;1.53e-05)|Ovarian(120;0.024)	194					Q5JR60|Q6P4F4	Missense_Mutation	SNP	ENST00000397829.4	37	c.500G>T	CCDS43527.1	.	.	.	.	.	.	.	.	.	.	C	1.962	-0.438740	0.04636	.	.	ENSG00000203690	ENST00000366827;ENST00000397829;ENST00000460930	T;T;T	0.45276	2.59;2.59;0.9	2.01	-3.81	0.04294	.	.	.	.	.	T	0.05135	0.0137	N	0.17474	0.49	0.09310	N	1	B;B;B	0.23185	0.0;0.081;0.081	B;B;B	0.23852	0.0;0.049;0.049	T	0.33523	-0.9865	9	0.11182	T	0.66	.	0.1293	0.00072	0.3461:0.2399:0.1818:0.2322	.	167;194;194	D1MPS5;Q12799;Q12799-2	.;TCP10_HUMAN;.	L	167;167;163	ENSP00000355792:R167L;ENSP00000380929:R167L;ENSP00000426065:R163L	ENSP00000355792:R167L	R	-	2	0	TCP10	167710100	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.003000	0.13083	-1.001000	0.03434	-1.021000	0.02439	CGT		0.507	TCP10-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365570.1	NM_004610		26	6	1	0	9.04e-19	3.53e-18	26	6				
AGMO	392636	broad.mit.edu	37	7	15599809	15599809	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr7:15599809C>A	ENST00000342526.3	-	2	383	c.214G>T	c.(214-216)Gct>Tct	p.A72S		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	72					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						GACGTTAAAGCATCATCCAGG	0.443																																						uc003stb.1		NA																	0					0						c.(214-216)GCT>TCT		transmembrane protein 195							129.0	117.0	121.0					7																	15599809		2203	4300	6503	SO:0001583	missense	392636				ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	g.chr7:15599809C>A		CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"""Fatty acid hydroxylase domain containing"""	33784	protein-coding gene	gene with protein product		613738	"""transmembrane protein 195"""	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.214G>T	7.37:g.15599809C>A	ENSP00000341662:p.Ala72Ser						p.A72S	NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN			2	384	-			72					A4D114|A6NCH5	Missense_Mutation	SNP	ENST00000342526.3	37	c.214G>T	CCDS34604.1	.	.	.	.	.	.	.	.	.	.	C	4.122	0.020812	0.08006	.	.	ENSG00000187546	ENST00000342526	T	0.28069	1.63	6.03	4.2	0.49525	.	0.423288	0.25971	N	0.027121	T	0.15305	0.0369	N	0.16098	0.37	0.28387	N	0.919254	B	0.02656	0.0	B	0.04013	0.001	T	0.25537	-1.0129	10	0.02654	T	1	-17.1667	11.7898	0.52063	0.1237:0.8124:0.0:0.0639	.	72	Q6ZNB7	ALKMO_HUMAN	S	72	ENSP00000341662:A72S	ENSP00000341662:A72S	A	-	1	0	AGMO	15566334	0.530000	0.26330	0.718000	0.30602	0.036000	0.12997	0.733000	0.26087	0.852000	0.35287	0.655000	0.94253	GCT		0.443	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320		85	68	1	0	4.46e-32	1.77e-31	85	68				
ZNF716	441234	broad.mit.edu	37	7	57529191	57529191	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr7:57529191C>T	ENST00000420713.1	+	4	1136	c.1024C>T	c.(1024-1026)Cat>Tat	p.H342Y		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	342					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(1)|kidney(1)|lung(20)|ovary(2)	24						CCTTAAGAAACATAAGATAGT	0.388																																						uc011kdi.1		NA																	0				ovary(2)	2						c.(1024-1026)CAT>TAT		zinc finger protein 716							46.0	47.0	47.0					7																	57529191		692	1591	2283	SO:0001583	missense	441234							g.chr7:57529191C>T	AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"""Zinc fingers, C2H2-type"", ""-"""	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.1024C>T	7.37:g.57529191C>T	ENSP00000394248:p.His342Tyr						p.H342Y	NM_001159279	NP_001152751					4	1136	+									Missense_Mutation	SNP	ENST00000420713.1	37	c.1024C>T	CCDS55112.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.997090	0.35226	.	.	ENSG00000182111	ENST00000420713;ENST00000418732	D	0.86769	-2.17	0.109	0.109	0.14578	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94420	0.8205	H	0.97158	3.95	0.28755	N	0.901229	D	0.76494	0.999	D	0.85130	0.997	D	0.86253	0.1650	9	0.87932	D	0	.	5.9913	0.19465	0.0:0.9994:0.0:6.0E-4	.	330	A6NP11	ZN716_HUMAN	Y	342;330	ENSP00000394248:H342Y	ENSP00000387687:H330Y	H	+	1	0	ZNF716	57533133	0.996000	0.38824	0.004000	0.12327	0.004000	0.04260	5.315000	0.65810	0.181000	0.19994	0.184000	0.17185	CAT		0.388	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345309.1	NM_001159279		30	16	0	0	0	0	30	16				
POM121	9883	broad.mit.edu	37	7	72413673	72413673	+	Silent	SNP	C	C	T			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr7:72413673C>T	ENST00000434423.2	+	11	3141	c.3141C>T	c.(3139-3141)ttC>ttT	p.F1047F	POM121_ENST00000358357.3_Silent_p.F782F|POM121_ENST00000257622.4_Silent_p.F782F|POM121_ENST00000446813.1_Silent_p.F782F|POM121_ENST00000395270.1_Silent_p.F782F			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1047	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTTCGGCCTTCGGCGCTCCCG	0.647																																						uc003twk.2		NA																	0					0						c.(3139-3141)TTC>TTT		nuclear pore membrane protein 121							37.0	39.0	38.0					7																	72413673		2203	4295	6498	SO:0001819	synonymous_variant	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72413673C>T	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.3141C>T	7.37:g.72413673C>T						POM121_uc003twj.2_Silent_p.F782F|POM121_uc010lam.1_Silent_p.F782F	p.F1047F	NM_172020	NP_742017	Q96HA1	P121A_HUMAN			11	3141	+		Lung NSC(55;0.163)	1047			Pore side (Potential).		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Silent	SNP	ENST00000434423.2	37	c.3141C>T																																																																																					0.647	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			7	199	0	0	0	0	7	199				
GRM3	2913	broad.mit.edu	37	7	86493648	86493648	+	Missense_Mutation	SNP	G	G	A	rs369532307		TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr7:86493648G>A	ENST00000361669.2	+	6	3716	c.2617G>A	c.(2617-2619)Gac>Aac	p.D873N	GRM3_ENST00000394720.2_Missense_Mutation_p.R515Q|GRM3_ENST00000546348.1_Missense_Mutation_p.D465N|GRM3_ENST00000536043.1_Missense_Mutation_p.D745N|GRM3_ENST00000439827.1_Missense_Mutation_p.R517Q	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	873					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					GGAAGTCCTCGACTCCACCAC	0.468																																					GBM(52;969 1098 3139 52280)	uc003uid.2		NA																	0				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13						c.(2617-2619)GAC>AAC		glutamate receptor, metabotropic 3 precursor	Acamprosate(DB00659)|Nicotine(DB00184)	G	ASN/ASP	0,4406		0,0,2203	281.0	229.0	246.0		2617	6.0	1.0	7		246	1,8599	1.2+/-3.3	0,1,4299	no	missense	GRM3	NM_000840.2	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	873/880	86493648	1,13005	2203	4300	6503	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86493648G>A		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.2617G>A	7.37:g.86493648G>A	ENSP00000355316:p.Asp873Asn					GRM3_uc010lef.2_Missense_Mutation_p.R515Q|GRM3_uc010leg.2_Missense_Mutation_p.D745N|GRM3_uc010leh.2_Missense_Mutation_p.D465N	p.D873N	NM_000840	NP_000831	Q14832	GRM3_HUMAN			6	3716	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		873			Cytoplasmic (Potential).		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.2617G>A	CCDS5600.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.291993|5.291993	0.95546|0.95546	0.0|0.0	1.16E-4|1.16E-4	ENSG00000198822|ENSG00000198822	ENST00000361669;ENST00000546348;ENST00000536043|ENST00000439827;ENST00000394720	D;D;D|D;D	0.88509|0.88741	-2.39;-2.34;-2.17|-2.42;-2.42	5.99|5.99	5.99|5.99	0.97316|0.97316	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85478|0.85478	0.5706|0.5706	L|L	0.32530|0.32530	0.975|0.975	0.28844|0.28844	N|N	0.896453|0.896453	D;D;D|B	0.89917|0.31318	0.996;1.0;0.998|0.319	P;D;P|B	0.91635|0.27887	0.844;0.999;0.856|0.084	T|T	0.81042|0.81042	-0.1112|-0.1112	10|9	0.72032|0.87932	D|D	0.01|0	.|.	19.4659|19.4659	0.94939|0.94939	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	465;745;873|517	B7Z204;F5GYZ2;Q14832|G5E9K2	.;.;GRM3_HUMAN|.	N|Q	873;465;745|517;515	ENSP00000355316:D873N;ENSP00000444064:D465N;ENSP00000441407:D745N|ENSP00000398767:R517Q;ENSP00000378209:R515Q	ENSP00000355316:D873N|ENSP00000378209:R515Q	D|R	+|+	1|2	0|0	GRM3|GRM3	86331584|86331584	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	8.502000|8.502000	0.90505|0.90505	2.840000|2.840000	0.97914|0.97914	0.655000|0.655000	0.94253|0.94253	GAC|CGA		0.468	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			73	122	0	0	0	0	73	122				
STEAP4	79689	broad.mit.edu	37	7	87910251	87910251	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr7:87910251C>T	ENST00000380079.4	-	4	1229	c.1128G>A	c.(1126-1128)tgG>tgA	p.W376*	AC003991.3_ENST00000600908.1_RNA|STEAP4_ENST00000301959.5_Nonsense_Mutation_p.W200*|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000447758.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	376	Ferric oxidoreductase.				copper ion import (GO:0015677)|fat cell differentiation (GO:0045444)|ferric iron import into cell (GO:0097461)|iron ion homeostasis (GO:0055072)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					GGAACTCTCTCCAGTTGACTG	0.378																																						uc003ujs.2		NA																	0					0						c.(1126-1128)TGG>TGA		tumor necrosis factor, alpha-induced protein 9							139.0	137.0	138.0					7																	87910251		1868	4099	5967	SO:0001587	stop_gained	79689				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	g.chr7:87910251C>T	AK026806	CCDS43611.1, CCDS56494.1	7q21.13	2014-01-28	2005-06-15	2005-06-15	ENSG00000127954	ENSG00000127954			21923	protein-coding gene	gene with protein product		611098	"""tumor necrosis factor, alpha-induced protein 9"""	TNFAIP9		11443137, 15897894	Standard	NM_024636		Approved	FLJ23153, TIARP, STAMP2	uc003ujs.3	Q687X5	OTTHUMG00000153853	ENST00000380079.4:c.1128G>A	7.37:g.87910251C>T	ENSP00000369419:p.Trp376*					STEAP4_uc010lek.2_Nonsense_Mutation_p.W200*	p.W376*	NM_024636	NP_078912	Q687X5	STEA4_HUMAN			4	1233	-	Esophageal squamous(14;0.00802)		376			Ferric oxidoreductase.		Q658Q9|Q687X4|Q8WWB0|Q9H5R1	Nonsense_Mutation	SNP	ENST00000380079.4	37	c.1128G>A	CCDS43611.1	.	.	.	.	.	.	.	.	.	.	C	37	6.030789	0.97216	.	.	ENSG00000127954	ENST00000380079;ENST00000301959	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.0212	20.452	0.99131	0.0:1.0:0.0:0.0	.	.	.	.	X	376;200	.	ENSP00000305545:W200X	W	-	3	0	STEAP4	87748187	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.818000	0.86416	2.838000	0.97847	0.591000	0.81541	TGG		0.378	STEAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332712.4	NM_024636		45	110	0	0	0	0	45	110				
ZNF394	84124	broad.mit.edu	37	7	99097557	99097557	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr7:99097557G>T	ENST00000337673.6	-	1	363	c.160C>A	c.(160-162)Ccc>Acc	p.P54T	ZNF394_ENST00000426306.2_Missense_Mutation_p.P54T|ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000394177.3_Intron	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	54					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GAAGCCGCGGGATAGTTGGGC	0.642																																					Ovarian(24;589 697 9939 12704 40742)	uc003uqs.2		NA																	0					0						c.(160-162)CCC>ACC		zinc finger protein 394							49.0	51.0	50.0					7																	99097557		2203	4300	6503	SO:0001583	missense	84124				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99097557G>T	BC025241	CCDS5666.1	7q22.1	2014-01-28			ENSG00000160908	ENSG00000160908		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	18832	protein-coding gene	gene with protein product							Standard	NM_032164		Approved	ZKSCAN14, FLJ12298, ZSCAN46	uc003uqs.3	Q53GI3	OTTHUMG00000154660	ENST00000337673.6:c.160C>A	7.37:g.99097557G>T	ENSP00000337363:p.Pro54Thr					ZNF394_uc003uqt.2_5'UTR|ZNF394_uc003uqu.1_Missense_Mutation_p.P54T	p.P54T	NM_032164	NP_115540	Q53GI3	ZN394_HUMAN			1	321	-	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		54					A4D281|Q05DA6|Q6P5X9|Q8TB27|Q9HA37|Q9UD51	Missense_Mutation	SNP	ENST00000337673.6	37	c.160C>A	CCDS5666.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.871804	0.33069	.	.	ENSG00000160908	ENST00000337673;ENST00000426306	T;T	0.05081	3.5;3.91	3.92	-0.0825	0.13697	.	0.455646	0.18910	N	0.127797	T	0.03011	0.0089	N	0.14661	0.345	0.09310	N	1	P;P	0.44241	0.829;0.829	B;B	0.41571	0.36;0.36	T	0.42361	-0.9456	10	0.19590	T	0.45	.	3.4689	0.07559	0.3479:0.1978:0.4543:0.0	.	54;54	Q05DA6;Q53GI3	.;ZN394_HUMAN	T	54	ENSP00000337363:P54T;ENSP00000409565:P54T	ENSP00000337363:P54T	P	-	1	0	ZNF394	98935493	0.031000	0.19500	0.001000	0.08648	0.002000	0.02628	0.363000	0.20301	-0.022000	0.13986	0.561000	0.74099	CCC		0.642	ZNF394-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336498.1	NM_032164		43	50	1	0	1.15e-24	4.53e-24	43	50				
LAMB4	22798	broad.mit.edu	37	7	107696109	107696109	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr7:107696109G>C	ENST00000388781.3	-	25	3806	c.3723C>G	c.(3721-3723)ttC>ttG	p.F1241L	LAMB4_ENST00000388780.3_Missense_Mutation_p.F1241L|LAMB4_ENST00000205386.4_Missense_Mutation_p.F1241L	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1241	Domain II.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TGACTTTTAAGAATTTCCCAG	0.413																																						uc010ljo.1		NA																	0				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						c.(3721-3723)TTC>TTG		laminin, beta 4 precursor							101.0	111.0	108.0					7																	107696109		2203	4300	6503	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107696109G>C	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.3723C>G	7.37:g.107696109G>C	ENSP00000373433:p.Phe1241Leu					LAMB4_uc003vey.2_Missense_Mutation_p.F1241L|LAMB4_uc010ljp.1_Missense_Mutation_p.F210L	p.F1241L	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN			25	3807	-			1241			Domain II.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.3723C>G	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	G	8.138	0.784679	0.16189	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	T;T;T;T	0.27402	1.67;1.67;2.12;1.69	5.0	4.1	0.47936	.	0.174606	0.27710	N	0.018171	T	0.11324	0.0276	N	0.03608	-0.345	0.80722	D	1	B;B	0.13145	0.002;0.007	B;B	0.08055	0.002;0.003	T	0.13791	-1.0496	10	0.02654	T	1	.	10.4748	0.44659	0.0754:0.1394:0.7852:0.0	.	1241;1241	A4D0S4-3;A4D0S4	.;LAMB4_HUMAN	L	1241;1241;267;1241	ENSP00000205386:F1241L;ENSP00000373433:F1241L;ENSP00000416562:F267L;ENSP00000373432:F1241L	ENSP00000205386:F1241L	F	-	3	2	LAMB4	107483345	0.995000	0.38212	0.966000	0.40874	0.993000	0.82548	2.210000	0.42816	1.295000	0.44724	0.555000	0.69702	TTC		0.413	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		49	101	0	0	0	0	49	101				
DOCK4	9732	broad.mit.edu	37	7	111540505	111540505	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr7:111540505C>T	ENST00000437633.1	-	15	1661	c.1405G>A	c.(1405-1407)Gaa>Aaa	p.E469K	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000428084.1_Missense_Mutation_p.E469K	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	469	DHR-1.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TTCAGCAGTTCAGACCACCTG	0.498																																						uc003vfx.2		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4						c.(1405-1407)GAA>AAA		dedicator of cytokinesis 4							89.0	88.0	88.0					7																	111540505		1961	4142	6103	SO:0001583	missense	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111540505C>T		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.1405G>A	7.37:g.111540505C>T	ENSP00000404179:p.Glu469Lys					DOCK4_uc003vfy.2_Missense_Mutation_p.E469K|DOCK4_uc003vga.1_Missense_Mutation_p.E74K	p.E469K	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN			15	1674	-		Acute lymphoblastic leukemia(1;0.0441)	469			DHR-1.		O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	c.1405G>A	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	C	36	5.923463	0.97110	.	.	ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	T;T	0.18960	2.18;2.18	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.61502	0.2352	H	0.94925	3.6	0.80722	D	1	D;D;D	0.76494	0.999;0.996;0.996	D;D;D	0.73380	0.98;0.955;0.955	T	0.71002	-0.4718	10	0.87932	D	0	.	20.5948	0.99439	0.0:1.0:0.0:0.0	.	469;469;469	Q149N2;Q149N5;Q8N1I0	.;.;DOCK4_HUMAN	K	457;469;469;457;468	ENSP00000410746:E469K;ENSP00000404179:E469K	ENSP00000345432:E457K	E	-	1	0	DOCK4	111327741	1.000000	0.71417	0.982000	0.44146	0.997000	0.91878	7.818000	0.86416	2.873000	0.98535	0.563000	0.77884	GAA		0.498	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		14	15	0	0	0	0	14	15				
TFEC	22797	broad.mit.edu	37	7	115624462	115624462	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr7:115624462G>C	ENST00000265440.7	-	2	214	c.34C>G	c.(34-36)Ctt>Gtt	p.L12V	TFEC_ENST00000320239.7_Missense_Mutation_p.L12V|TFEC_ENST00000484212.1_Missense_Mutation_p.L102V|TFEC_ENST00000393485.1_Missense_Mutation_p.L12V	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	12	Necessary for transcriptional transactivation.				cellular response to heat (GO:0034605)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.L12V(1)		NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			GACCATTTAAGAGTTGGATTG	0.493																																						uc003vhj.1		NA																	1	Substitution - Missense(1)		kidney(1)	large_intestine(1)	1						c.(34-36)CTT>GTT		transcription factor EC isoform a							181.0	160.0	167.0					7																	115624462		2203	4300	6503	SO:0001583	missense	22797					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr7:115624462G>C	D43945	CCDS5762.1, CCDS34738.1, CCDS59076.1	7q31.2	2013-05-21			ENSG00000105967	ENSG00000105967		"""Basic helix-loop-helix proteins"""	11754	protein-coding gene	gene with protein product		604732				9256061	Standard	NM_012252		Approved	TCFEC, TFECL, bHLHe34	uc003vhj.2	O14948	OTTHUMG00000023518	ENST00000265440.7:c.34C>G	7.37:g.115624462G>C	ENSP00000265440:p.Leu12Val					TFEC_uc003vhk.1_Missense_Mutation_p.L12V|TFEC_uc003vhl.3_Missense_Mutation_p.L12V|TFEC_uc011kmw.1_Missense_Mutation_p.L102V	p.L12V	NM_012252	NP_036384	O14948	TFEC_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		2	218	-			12			Necessary for transcriptional transactivation.		B2R8X5|Q5H9U8|Q709A4|Q8N6J9	Missense_Mutation	SNP	ENST00000265440.7	37	c.34C>G	CCDS5762.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.844712	0.32606	.	.	ENSG00000105967	ENST00000265440;ENST00000320239;ENST00000393485;ENST00000484212	T;T;T;T	0.28255	1.88;1.62;1.82;2.39	5.09	2.14	0.27477	.	0.330391	0.27673	N	0.018322	T	0.33876	0.0878	L	0.34521	1.04	0.09310	N	0.999992	D;P;P;D	0.63880	0.993;0.837;0.649;0.962	P;P;B;B	0.58331	0.837;0.475;0.254;0.354	T	0.09422	-1.0675	10	0.49607	T	0.09	0.0	8.0378	0.30504	0.0842:0.3035:0.6123:0.0	.	102;12;12;12	B7Z757;O14948-3;O14948-2;O14948	.;.;.;TFEC_HUMAN	V	12;12;12;102	ENSP00000265440:L12V;ENSP00000318676:L12V;ENSP00000377125:L12V;ENSP00000417432:L102V	ENSP00000265440:L12V	L	-	1	0	TFEC	115411698	0.063000	0.20901	0.004000	0.12327	0.112000	0.19704	0.965000	0.29319	0.205000	0.20568	0.655000	0.94253	CTT		0.493	TFEC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000059839.4	NM_012252		54	108	0	0	0	0	54	108				
TUSC3	7991	broad.mit.edu	37	8	15601046	15601046	+	Splice_Site	SNP	G	G	T			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr8:15601046G>T	ENST00000503731.1	+	8	1010		c.e8-1		TUSC3_ENST00000506802.1_Splice_Site|TUSC3_ENST00000382020.4_Splice_Site	NM_006765.3	NP_006756.2	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3						cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		AACTACTGCAGATGCCGCTAT	0.403																																						uc003wwt.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.e8-1		tumor suppressor candidate 3 isoform a							158.0	170.0	166.0					8																	15601046		2203	4300	6503	SO:0001630	splice_region_variant	7991				cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		g.chr8:15601046G>T	AK026149	CCDS5993.1, CCDS5994.1	8p22	2010-10-22			ENSG00000104723	ENSG00000104723			30242	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 3 homolog A (S. cerevisiae)"""	601385				8661104, 10097140	Standard	NM_178234		Approved	MGC13453, N33, OST3A, MRT7	uc003wwt.3	Q13454	OTTHUMG00000094803	ENST00000503731.1:c.863-1G>T	8.37:g.15601046G>T						TUSC3_uc003wwu.2_Splice_Site_p.N288_splice|TUSC3_uc003wwv.2_Splice_Site_p.N288_splice|TUSC3_uc003www.2_Splice_Site_p.N288_splice|TUSC3_uc003wwx.2_Splice_Site|TUSC3_uc003wwy.2_Splice_Site_p.M267_splice	p.N288_splice	NM_006765	NP_006756	Q13454	TUSC3_HUMAN		Colorectal(111;0.113)	8	1073	+								A8MSM0|D3DSP2|Q14911|Q14912|Q96FW0	Splice_Site	SNP	ENST00000503731.1	37	c.863_splice	CCDS5994.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.983165	0.74474	.	.	ENSG00000104723	ENST00000382020;ENST00000506802;ENST00000503731	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8674	0.92298	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TUSC3	15645417	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	9.404000	0.97306	2.784000	0.95788	0.585000	0.79938	.		0.403	TUSC3-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365367.1	NM_006765	Intron	23	137	1	0	5.35e-11	2.04e-10	23	137				
PKHD1L1	93035	broad.mit.edu	37	8	110457673	110457673	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr8:110457673G>T	ENST00000378402.5	+	38	5679	c.5575G>T	c.(5575-5577)Ggc>Tgc	p.G1859C		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1859	IPT/TIG 11.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTTCTATCCAGGCAACACTAC	0.502										HNSCC(38;0.096)																												uc003yne.2		NA																	0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(5575-5577)GGC>TGC		fibrocystin L precursor							65.0	67.0	66.0					8																	110457673		1972	4158	6130	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110457673G>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.5575G>T	8.37:g.110457673G>T	ENSP00000367655:p.Gly1859Cys	HNSCC(38;0.096)					p.G1859C	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		38	5679	+			1859			Extracellular (Potential).|IPT/TIG 11.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.5575G>T	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.496048	0.64186	.	.	ENSG00000205038	ENST00000378402	D	0.90563	-2.69	5.91	5.04	0.67666	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.062440	0.64402	D	0.000006	D	0.95818	0.8639	H	0.94582	3.555	0.34528	D	0.708933	D	0.63880	0.993	D	0.67382	0.951	D	0.98389	1.0562	10	0.72032	D	0.01	.	8.6527	0.34044	0.0802:0.1519:0.7679:0.0	.	1859	Q86WI1	PKHL1_HUMAN	C	1859	ENSP00000367655:G1859C	ENSP00000367655:G1859C	G	+	1	0	PKHD1L1	110526849	1.000000	0.71417	0.278000	0.24718	0.945000	0.59286	4.845000	0.62853	1.505000	0.48720	0.655000	0.94253	GGC		0.502	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		39	7	1	0	6.97e-18	2.72e-17	39	7				
FAM84B	157638	broad.mit.edu	37	8	127569333	127569333	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr8:127569333G>A	ENST00000304916.3	-	2	757	c.302C>T	c.(301-303)tCg>tTg	p.S101L	RP11-89K10.1_ENST00000517773.1_RNA|RP11-89K10.1_ENST00000520512.1_RNA|RP11-103H7.5_ENST00000524320.1_RNA|FAM84B_ENST00000517458.1_5'Flank|RP11-89K10.1_ENST00000519880.1_RNA	NM_174911.4	NP_777571.1	Q96KN1	FA84B_HUMAN	family with sequence similarity 84, member B	101						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)			CAGCGCCGCCGAGCCCGGCGC	0.657																																						uc003yrz.1		NA																	0					0						c.(301-303)TCG>TTG		family with sequence similarity 84, member B																																				SO:0001583	missense	157638					cytoplasm|plasma membrane	protein binding	g.chr8:127569333G>A	AJ417849	CCDS6358.1	8q24.13	2006-02-09				ENSG00000168672			24166	protein-coding gene	gene with protein product	"""breast cancer membrane-associated protein 101"", ""neurological/sensory 2"""	609483				12477722	Standard	NM_174911		Approved	BCMP101, NSE2	uc003yrz.2	Q96KN1		ENST00000304916.3:c.302C>T	8.37:g.127569333G>A	ENSP00000302578:p.Ser101Leu						p.S101L	NM_174911	NP_777571	Q96KN1	FA84B_HUMAN	STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)		2	586	-	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		101						Missense_Mutation	SNP	ENST00000304916.3	37	c.302C>T	CCDS6358.1	.	.	.	.	.	.	.	.	.	.	G	7.753	0.703654	0.15172	.	.	ENSG00000168672	ENST00000304916	T	0.44083	0.93	4.69	4.69	0.59074	.	0.697822	0.11088	U	0.601053	T	0.23410	0.0566	N	0.08118	0	0.31903	N	0.61573	B	0.13594	0.008	B	0.04013	0.001	T	0.13764	-1.0497	10	0.37606	T	0.19	-17.8598	8.2671	0.31821	0.0:0.1565:0.658:0.1855	.	101	Q96KN1	FA84B_HUMAN	L	101	ENSP00000302578:S101L	ENSP00000302578:S101L	S	-	2	0	FAM84B	127638515	0.003000	0.15002	0.254000	0.24359	0.022000	0.10575	1.327000	0.33746	2.116000	0.64780	0.467000	0.42956	TCG		0.657	FAM84B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381487.1	NM_174911		31	17	0	0	0	0	31	17				
CDKN2A	1029	broad.mit.edu	37	9	21971098	21971098	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr9:21971098C>G	ENST00000304494.5	-	2	530	c.260G>C	c.(259-261)cGg>cCg	p.R87P	RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.R87P|CDKN2A_ENST00000498124.1_Missense_Mutation_p.R87P|CDKN2A_ENST00000446177.1_Missense_Mutation_p.R87P|CDKN2A_ENST00000498628.2_Missense_Mutation_p.R36P|CDKN2A_ENST00000479692.2_Missense_Mutation_p.R36P|CDKN2A_ENST00000579755.1_Silent_p.P101P|CDKN2A_ENST00000494262.1_Missense_Mutation_p.R36P|CDKN2A_ENST00000530628.2_Silent_p.P101P|CDKN2A_ENST00000497750.1_Missense_Mutation_p.R36P|CDKN2A_ENST00000578845.2_Missense_Mutation_p.R36P|CDKN2A_ENST00000361570.3_Silent_p.P142P	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	87			R -> P (in CMM2; impairs the function). {ECO:0000269|PubMed:7987387}.|R -> W (in CMM2; partial loss of CDK4 binding). {ECO:0000269|PubMed:10874641}.		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.?(44)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.R87L(1)|p.E61_L94del(1)|p.R87Q(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.V82_E88del(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)		GAAGCCCTCCCGGGCAGCGTC	0.751		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1370	Whole gene deletion(1316)|Unknown(44)|Deletion - Frameshift(4)|Deletion - In frame(3)|Substitution - Missense(2)|Complex - deletion inframe(1)	p.0?(1112)|p.?(13)|p.H83fs*2(2)|p.D84_F90del(1)|p.V82_E88del(1)|p.V82_G89>G(1)|p.R87W(1)|p.R87L(1)|p.E61_L94del(1)|p.R87Q(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.R87fs(1)|p.E87K(1)	haematopoietic_and_lymphoid_tissue(283)|skin(176)|central_nervous_system(167)|lung(147)|urinary_tract(91)|bone(74)|soft_tissue(57)|oesophagus(52)|pleura(51)|upper_aerodigestive_tract(51)|ovary(36)|kidney(32)|breast(32)|pancreas(30)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(9)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	GRCh37	CM940229|CM994780	CDKN2A	M		c.(259-261)CGG>CCG		cyclin-dependent kinase inhibitor 2A isoform 1							13.0	16.0	15.0					9																	21971098		2174	4259	6433	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.chr9:21971098C>G	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.260G>C	9.37:g.21971098C>G	ENSP00000307101:p.Arg87Pro	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Silent_p.P142P	p.R87P	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)	2	472	-		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)	87		R -> P (in CMM2; impairs the function).|R -> W (in CMM2; partial loss of CDK4 binding).	ANK 3.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.260G>C	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	C	35	5.443627	0.96187	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	T;T	0.80123	-1.34;-1.34	5.93	5.93	0.95920	Ankyrin repeat-containing domain (4);	.	.	.	.	D	0.89770	0.6811	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	D	0.89154	0.3525	8	0.51188	T	0.08	-10.394	19.1221	0.93367	0.0:1.0:0.0:0.0	.	87	P42771	CD2A1_HUMAN	P	87	ENSP00000307101:R87P;ENSP00000394932:R87P	ENSP00000307101:R87P	R	-	2	0	CDKN2A	21961098	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.879000	0.75572	2.808000	0.96608	0.655000	0.94253	CGG		0.751	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		6	3	0	0	0	0	6	3				
KIAA1161	57462	broad.mit.edu	37	9	34371549	34371549	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr9:34371549C>G	ENST00000297625.7	-	2	1516	c.1291G>C	c.(1291-1293)Ggc>Cgc	p.G431R		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	465					carbohydrate metabolic process (GO:0005975)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|skeletal muscle fiber development (GO:0048741)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CTGACCTCGCCCGCGTCGAAC	0.672																																						uc003zue.3		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(1393-1395)GGC>CGC		hypothetical protein LOC57462							14.0	20.0	18.0					9																	34371549		2053	4182	6235	SO:0001583	missense	57462				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr9:34371549C>G	AB032987		9p11.2	2009-11-06			ENSG00000164976	ENSG00000164976			19918	protein-coding gene	gene with protein product						10574461	Standard	XM_006716808		Approved	NET37	uc003zue.4	Q6NSJ0	OTTHUMG00000019816	ENST00000297625.7:c.1291G>C	9.37:g.34371549C>G	ENSP00000297625:p.Gly431Arg						p.G465R	NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)	3	1560	-			465			Extracellular (Potential).		Q5T587|Q5T588|Q9ULQ9	Missense_Mutation	SNP	ENST00000297625.7	37	c.1393G>C		.	.	.	.	.	.	.	.	.	.	C	20.2	3.942144	0.73672	.	.	ENSG00000164976	ENST00000297625	T	0.50001	0.76	5.14	5.14	0.70334	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.77890	0.4198	H	0.94698	3.57	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84831	0.0802	10	0.87932	D	0	-19.9138	17.1923	0.86883	0.0:1.0:0.0:0.0	.	465	Q6NSJ0	K1161_HUMAN	R	431	ENSP00000297625:G431R	ENSP00000297625:G431R	G	-	1	0	KIAA1161	34361549	1.000000	0.71417	0.738000	0.30950	0.852000	0.48524	7.770000	0.85390	2.402000	0.81655	0.313000	0.20887	GGC		0.672	KIAA1161-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000052158.1	XM_351807		2	7	0	0	0	0	2	7				
TMEM2	23670	broad.mit.edu	37	9	74332991	74332991	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr9:74332991G>A	ENST00000377044.4	-	13	2811	c.2272C>T	c.(2272-2274)Cga>Tga	p.R758*	TMEM2_ENST00000377066.5_Nonsense_Mutation_p.R695*	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	758					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.R758*(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TGATGAGGTCGAAATCTAGGG	0.338																																						uc011lsa.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(2272-2274)CGA>TGA		transmembrane protein 2 isoform a							67.0	69.0	69.0					9																	74332991		2203	4300	6503	SO:0001587	stop_gained	23670					integral to membrane		g.chr9:74332991G>A		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.2272C>T	9.37:g.74332991G>A	ENSP00000366243:p.Arg758*					TMEM2_uc010mos.2_Nonsense_Mutation_p.R695*|TMEM2_uc011lsb.1_RNA	p.R758*	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	13	2812	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	758					A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Nonsense_Mutation	SNP	ENST00000377044.4	37	c.2272C>T	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	G	39	7.719769	0.98453	.	.	ENSG00000135048	ENST00000377044;ENST00000377066	.	.	.	5.47	4.56	0.56223	.	0.053459	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.4173	0.74980	0.0:0.0:0.8526:0.1474	.	.	.	.	X	758;695	.	ENSP00000366243:R758X	R	-	1	2	TMEM2	73522811	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	3.670000	0.54569	1.273000	0.44346	0.558000	0.71614	CGA		0.338	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		27	37	0	0	0	0	27	37				
VPS13A	23230	broad.mit.edu	37	9	79853254	79853254	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr9:79853254G>T	ENST00000360280.3	+	19	2112	c.1852G>T	c.(1852-1854)Gca>Tca	p.A618S	VPS13A_ENST00000376634.4_Missense_Mutation_p.A618S|VPS13A_ENST00000357409.5_Missense_Mutation_p.A618S|VPS13A_ENST00000376636.3_Missense_Mutation_p.A618S	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	618					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACAGCTCACTGCAGCAACTTT	0.348																																						uc004akr.2		NA																	0				pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						c.(1852-1854)GCA>TCA		vacuolar protein sorting 13A isoform A							69.0	69.0	69.0					9																	79853254		2203	4300	6503	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79853254G>T	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.1852G>T	9.37:g.79853254G>T	ENSP00000353422:p.Ala618Ser					VPS13A_uc004akp.3_Missense_Mutation_p.A618S|VPS13A_uc004akq.3_Missense_Mutation_p.A618S|VPS13A_uc004aks.2_Missense_Mutation_p.A618S	p.A618S	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN			19	2112	+			618					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.1852G>T	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	G	2.352	-0.348573	0.05208	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.38560	1.13;1.13;1.13;1.13	5.44	1.16	0.20824	.	0.397872	0.25842	N	0.027954	T	0.10895	0.0266	N	0.00666	-1.275	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.003;0.0;0.0;0.0	T	0.16247	-1.0409	10	0.08381	T	0.77	.	8.1966	0.31400	0.2996:0.0:0.1007:0.5997	.	618;618;618;618	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	S	618	ENSP00000365821:A618S;ENSP00000365823:A618S;ENSP00000353422:A618S;ENSP00000349985:A618S	ENSP00000349985:A618S	A	+	1	0	VPS13A	79043074	0.996000	0.38824	0.996000	0.52242	0.947000	0.59692	1.766000	0.38491	0.345000	0.23873	-0.347000	0.07816	GCA		0.348	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		29	39	1	0	3.48e-35	1.38e-34	29	39				
CCDC180	100499483	broad.mit.edu	37	9	100090306	100090306	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr9:100090306G>T	ENST00000357054.1	+	30	3150	c.2215G>T	c.(2215-2217)Gaa>Taa	p.E739*	CCDC180_ENST00000529487.1_Nonsense_Mutation_p.E600*|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000375202.2_Nonsense_Mutation_p.E600*|CCDC180_ENST00000411667.2_Nonsense_Mutation_p.E597*			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	739						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											TCCCAGGTATGAATGTTTTCA	0.517																																						uc011lut.1		NA																	0				ovary(4)|large_intestine(2)|skin(1)	7						c.(2215-2217)GAA>TAA		hypothetical protein LOC57653							211.0	200.0	204.0					9																	100090306		2203	4300	6503	SO:0001587	stop_gained	57653							g.chr9:100090306G>T	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.2215G>T	9.37:g.100090306G>T	ENSP00000349562:p.Glu739*					KIAA1529_uc004axe.1_Nonsense_Mutation_p.E739*|KIAA1529_uc004axg.1_Nonsense_Mutation_p.E600*|KIAA1529_uc004axh.1_5'Flank|KIAA1529_uc011luw.1_5'Flank|KIAA1529_uc011lus.1_Nonsense_Mutation_p.E557*|KIAA1529_uc010msm.1_Intron|KIAA1529_uc004axf.2_Nonsense_Mutation_p.E600*|KIAA1529_uc011luv.1_Nonsense_Mutation_p.E597*	p.E739*	NM_020893	NP_065944					28	2988	+		Acute lymphoblastic leukemia(62;0.154)						Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Nonsense_Mutation	SNP	ENST00000357054.1	37	c.2215G>T		.	.	.	.	.	.	.	.	.	.	G	44	11.118270	0.99518	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	.	.	.	5.18	2.18	0.27775	.	0.600787	0.16878	N	0.195814	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-7.1213	7.2565	0.26179	0.3065:0.0:0.6935:0.0	.	.	.	.	X	739;600;597;623;600	.	ENSP00000349562:E739X	E	+	1	0	C9orf174	99130127	1.000000	0.71417	0.686000	0.30086	0.017000	0.09413	1.750000	0.38329	0.354000	0.24105	-0.345000	0.07892	GAA		0.517	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		86	118	1	0	2.62e-37	1.04e-36	86	118				
ASTN2	23245	broad.mit.edu	37	9	119976967	119976967	+	Missense_Mutation	SNP	C	C	T	rs182920283		TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr9:119976967C>T	ENST00000313400.4	-	3	785	c.685G>A	c.(685-687)Gcc>Acc	p.A229T	ASTN2_ENST00000373996.3_Missense_Mutation_p.A229T|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.A229T			O75129	ASTN2_HUMAN	astrotactin 2	229			A -> V (found in a clear cell renal carcinoma case; somatic mutation). {ECO:0000269|PubMed:21248752}.		negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.A229T(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGTCGCTGGGCGTACAGCGCC	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		16632	0.001		0.0	False		,,,				2504	0.0					uc004bjs.1		NA																	1	Substitution - Missense(1)	p.A229V(1)	lung(1)	skin(4)|ovary(3)|breast(1)|kidney(1)	9						c.(685-687)GCC>ACC		astrotactin 2 isoform c		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	44.0	43.0	44.0		685	5.5	1.0	9		44	0,8600		0,0,4300	no	missense	ASTN2	NM_014010.4	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	229/1289	119976967	1,13005	2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:119976967C>T	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.685G>A	9.37:g.119976967C>T	ENSP00000314038:p.Ala229Thr					ASTN2_uc004bjr.1_Missense_Mutation_p.A229T|ASTN2_uc004bjt.1_Missense_Mutation_p.A229T	p.A229T	NM_198187	NP_937830	O75129	ASTN2_HUMAN			3	786	-			229		A -> V (found in a clear cell renal carcinoma case; somatic mutation).	Cytoplasmic (Potential).		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.685G>A		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	12.14	1.848028	0.32699	2.27E-4	0.0	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000361209	T;T;T	0.08807	3.08;3.08;3.05	5.51	5.51	0.81932	.	0.072222	0.56097	D	0.000034	T	0.03739	0.0106	N	0.03608	-0.345	0.47094	D	0.999314	B;B;P	0.40794	0.089;0.265;0.729	B;B;B	0.28553	0.005;0.008;0.091	T	0.57458	-0.7808	9	.	.	.	-20.283	19.0397	0.92993	0.0:1.0:0.0:0.0	.	229;229;229	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	T	229	ENSP00000314038:A229T;ENSP00000363108:A229T;ENSP00000354504:A229T	.	A	-	1	0	ASTN2	119016788	1.000000	0.71417	0.984000	0.44739	0.712000	0.41017	4.046000	0.57376	2.599000	0.87857	0.655000	0.94253	GCC		0.607	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		31	36	0	0	0	0	31	36				
NAIF1	203245	broad.mit.edu	37	9	130829161	130829161	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr9:130829161C>G	ENST00000373078.4	-	1	439	c.220G>C	c.(220-222)Gac>Cac	p.D74H	NAIF1_ENST00000488519.1_5'Flank|SLC25A25_ENST00000373068.2_5'Flank|SLC25A25_ENST00000373069.5_5'Flank	NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	74					negative regulation of cell growth (GO:0030308)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GTCTTGAGGTCAGACCACTTC	0.697																																						uc004bta.2		NA																	0					0						c.(220-222)GAC>CAC		nuclear apoptosis inducing factor 1							50.0	51.0	51.0					9																	130829161		2201	4297	6498	SO:0001583	missense	203245				apoptosis|induction of apoptosis	nucleus		g.chr9:130829161C>G	AK122729	CCDS6889.1	9q34.11	2008-04-10	2008-04-10	2008-04-10	ENSG00000171169	ENSG00000171169			25446	protein-coding gene	gene with protein product	"""nuclear apoptosis-inducing factor 1"""	610673	"""chromosome 9 open reading frame 90"""	C9orf90		14702039, 16378748	Standard	NM_197956		Approved	DKFZp762G199, bA379C10.2	uc004bta.3	Q69YI7	OTTHUMG00000020727	ENST00000373078.4:c.220G>C	9.37:g.130829161C>G	ENSP00000362170:p.Asp74His					NAIF1_uc004bsz.2_RNA|SLC25A25_uc004btb.2_5'Flank	p.D74H	NM_197956	NP_931045	Q69YI7	NAIF1_HUMAN			1	439	-			74					B3KV81|Q8WU12	Missense_Mutation	SNP	ENST00000373078.4	37	c.220G>C	CCDS6889.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.819796	0.90873	.	.	ENSG00000171169	ENST00000373078	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.79246	0.4413	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81026	-0.1119	9	0.72032	D	0.01	-9.7857	18.1484	0.89667	0.0:1.0:0.0:0.0	.	74	Q69YI7	NAIF1_HUMAN	H	74	.	ENSP00000362170:D74H	D	-	1	0	NAIF1	129868982	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.157000	0.77461	2.538000	0.85594	0.563000	0.77884	GAC		0.697	NAIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054330.1	NM_197956		83	12	0	0	0	0	83	12				
THOC2	57187	broad.mit.edu	37	X	122774415	122774415	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chrX:122774415T>C	ENST00000245838.8	-	16	1751	c.1720A>G	c.(1720-1722)Agc>Ggc	p.S574G	THOC2_ENST00000491737.1_Missense_Mutation_p.S459G|THOC2_ENST00000355725.4_Missense_Mutation_p.S574G	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	574					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GTTGGATTGCTGTGGCTCAAC	0.383																																						uc004etu.2		NA																	0				ovary(3)	3						c.(1720-1722)AGC>GGC		THO complex 2							180.0	153.0	161.0					X																	122774415		1859	4092	5951	SO:0001583	missense	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122774415T>C	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.1720A>G	X.37:g.122774415T>C	ENSP00000245838:p.Ser574Gly					THOC2_uc011muh.1_Missense_Mutation_p.S495G	p.S574G	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN			16	1752	-			574					A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	c.1720A>G	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	T	14.64	2.594329	0.46214	.	.	ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737;ENST00000408933	.	.	.	5.26	5.26	0.73747	THO complex, subunitTHOC2, N-terminal (1);	0.138493	0.48767	D	0.000172	T	0.58779	0.2146	M	0.71581	2.175	0.54753	D	0.999987	P;B	0.41784	0.762;0.343	B;B	0.43155	0.328;0.41	T	0.60434	-0.7264	9	0.39692	T	0.17	-6.9159	10.4122	0.44301	0.0:0.0803:0.0:0.9197	.	495;574	B4DKZ6;Q8NI27	.;THOC2_HUMAN	G	574;574;459;495	.	ENSP00000245838:S574G	S	-	1	0	THOC2	122602096	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.289000	0.72696	1.753000	0.51906	0.345000	0.21793	AGC		0.383	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			60	5	0	0	0	0	60	5				
GPR112	139378	broad.mit.edu	37	X	135404984	135404984	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chrX:135404984G>C	ENST00000394143.1	+	5	409	c.118G>C	c.(118-120)Gac>Cac	p.D40H	GPR112_ENST00000287534.4_5'UTR|GPR112_ENST00000394141.1_Intron|GPR112_ENST00000370652.1_Missense_Mutation_p.D40H|GPR112_ENST00000412101.1_Intron	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	40					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TGGAAGAGGTGACACATATGT	0.388																																						uc004ezu.1		NA																	0				ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(118-120)GAC>CAC		G-protein coupled receptor 112							66.0	67.0	67.0					X																	135404984		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135404984G>C	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.118G>C	X.37:g.135404984G>C	ENSP00000377699:p.Asp40His					GPR112_uc010nsb.1_Intron	p.D40H	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			5	409	+	Acute lymphoblastic leukemia(192;0.000127)		40			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.118G>C	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.178032	0.38511	.	.	ENSG00000156920	ENST00000394143;ENST00000370652	T;T	0.66638	-0.22;-0.22	5.85	4.04	0.47022	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.59824	0.2222	L	0.36672	1.1	0.30052	N	0.811717	P	0.47762	0.9	P	0.45794	0.493	T	0.59322	-0.7476	9	0.72032	D	0.01	.	8.6735	0.34165	0.0835:0.1471:0.7695:0.0	.	40	Q8IZF6	GP112_HUMAN	H	40	ENSP00000377699:D40H;ENSP00000359686:D40H	ENSP00000359686:D40H	D	+	1	0	GPR112	135232650	0.679000	0.27596	0.010000	0.14722	0.856000	0.48823	1.322000	0.33689	0.585000	0.29608	0.513000	0.50165	GAC		0.388	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			38	9	0	0	0	0	38	9				
ENO1	2023	broad.mit.edu	37	1	8926383	8926385	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr1:8926383_8926385delCCA	ENST00000234590.4	-	7	739_741	c.620_622delTGG	c.(619-624)gtgggg>ggg	p.V207del		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	207	Required for repression of c-myc promoter activity.				carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		CCTTCATCCCCCACATTGGTGGC	0.552																																					Esophageal Squamous(21;302 608 19946 22210 33560)	uc001apj.1		NA																	0				ovary(2)|kidney(1)|central_nervous_system(1)	4						c.(619-624)GTGGGG>GGG		enolase 1																																				SO:0001651	inframe_deletion	2023				gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr1:8926383_8926385delCCA	BC022545	CCDS97.1	1p36.2	2010-03-11			ENSG00000074800	ENSG00000074800	4.2.1.11		3350	protein-coding gene	gene with protein product		172430		ENO1L1, MPB1		9653645, 9691177	Standard	NM_001428		Approved	PPH, MBP-1	uc001apj.2	P06733	OTTHUMG00000001773	ENST00000234590.4:c.620_622delTGG	1.37:g.8926383_8926385delCCA	ENSP00000234590:p.Val207del					ENO1_uc001api.1_In_Frame_Del_p.V111del|ENO1_uc001apk.1_In_Frame_Del_p.V152del|ENO1_uc001apl.1_In_Frame_Del_p.V207del|ENO1_uc009vmi.1_In_Frame_Del_p.V164del|ENO1_uc009vmj.1_In_Frame_Del_p.V207del|ENO1_uc009vmk.1_In_Frame_Del_p.V81del|ENO1_uc009vml.1_In_Frame_Del_p.V207del	p.V207del	NM_001428	NP_001419	P06733	ENOA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)	7	771_773	-	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	207			Required for repression of c-myc promoter activity.		B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q96GV1|Q9BT62|Q9UCH6|Q9UM55	In_Frame_Del	DEL	ENST00000234590.4	37	c.620_622delTGG	CCDS97.1																																																																																				0.552	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004945.1	NM_001428		52	29	NA	NA	NA	NA	52	29	---	---	---	---
ZBTB18	10472	broad.mit.edu	37	1	244217124	244217125	+	Frame_Shift_Ins	INS	-	-	A	rs192912524	byFrequency	TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr1:244217124_244217125insA	ENST00000358704.4	+	2	197_198	c.48_49insA	c.(49-51)agafs	p.R17fs		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1	Q99592	ZBT18_HUMAN	zinc finger and BTB domain containing 18	8					cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron development (GO:0048666)|regulation of cell division (GO:0051302)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CAGACCATAGTAGACATTTGCT	0.51																																						uc001iae.2		NA																	0				ovary(3)|pancreas(2)	5						c.(19-24)AGTAGAfs		zinc finger protein 238 isoform 2																																				SO:0001589	frameshift_variant	10472				negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:244217124_244217125insA	U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13030	protein-coding gene	gene with protein product		608433	"""zinc finger protein 238"""	ZNF238		9568537, 9013868	Standard	NM_205768		Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.49dupA	1.37:g.244217125_244217125dupA	ENSP00000351539:p.Arg17fs					ZNF238_uc001iad.3_Frame_Shift_Ins_p.S16fs|ZNF238_uc001iaf.1_Frame_Shift_Ins_p.S7fs	p.S7fs	NM_006352	NP_006343	Q99592	ZN238_HUMAN	all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223)		1	543_544	+	all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123)		7_8					A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Frame_Shift_Ins	INS	ENST00000358704.4	37	c.21_22insA	CCDS1622.1																																																																																				0.510	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096513.2	NM_205768		27	38	NA	NA	NA	NA	27	38	---	---	---	---
MAP3K12	7786	broad.mit.edu	37	12	53875912	53875913	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr12:53875912_53875913insT	ENST00000267079.2	-	14	2518_2519	c.2293_2294insA	c.(2293-2295)agtfs	p.S765fs	MAP3K12_ENST00000547035.1_Frame_Shift_Ins_p.S798fs|MAP3K12_ENST00000547488.1_Frame_Shift_Ins_p.S798fs	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	765					histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						GGAAGGTTCACTAGCTGTGCCT	0.554											OREG0021873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001sdm.1		NA																	0				lung(2)|ovary(1)|breast(1)|skin(1)	5						c.(2293-2295)AGTfs		mitogen-activated protein kinase kinase kinase																																				SO:0001589	frameshift_variant	7786				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr12:53875912_53875913insT	U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.2294dupA	12.37:g.53875913_53875913dupT	ENSP00000267079:p.Ser765fs		OREG0021873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	996	MAP3K12_uc001sdn.1_Frame_Shift_Ins_p.S798fs	p.S765fs	NM_006301	NP_006292	Q12852	M3K12_HUMAN			14	2391_2392	-			765					B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Frame_Shift_Ins	INS	ENST00000267079.2	37	c.2293_2294insA	CCDS8860.1																																																																																				0.554	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		73	93	NA	NA	NA	NA	73	93	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78400648	78400648	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr12:78400648delC	ENST00000397909.2	+	8	1503	c.1330delC	c.(1330-1332)cctfs	p.P444fs	NAV3_ENST00000228327.6_Frame_Shift_Del_p.P444fs|NAV3_ENST00000266692.7_Frame_Shift_Del_p.P444fs|NAV3_ENST00000536525.2_Frame_Shift_Del_p.P444fs			Q8IVL0	NAV3_HUMAN	neuron navigator 3	444						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CAAAGTGTCACCTAAGTTGGC	0.408										HNSCC(70;0.22)																												uc001syp.2		NA																	0				large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(1330-1332)CCTfs		neuron navigator 3							97.0	94.0	95.0					12																	78400648		1887	4112	5999	SO:0001589	frameshift_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78400648delC	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1330delC	12.37:g.78400648delC	ENSP00000381007:p.Pro444fs	HNSCC(70;0.22)				NAV3_uc001syo.2_Frame_Shift_Del_p.P444fs	p.P444fs	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			8	1503	+			444					Q8NFW7|Q9Y2E7	Frame_Shift_Del	DEL	ENST00000397909.2	37	c.1330delC																																																																																					0.408	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		34	68	NA	NA	NA	NA	34	68	---	---	---	---
AJUBA	84962	broad.mit.edu	37	14	23451332	23451332	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr14:23451332delC	ENST00000262713.2	-	1	519	c.144delG	c.(142-144)gggfs	p.G48fs	RP11-298I3.4_ENST00000555294.1_RNA|RP11-298I3.4_ENST00000556503.1_RNA|RP11-298I3.5_ENST00000555074.1_Intron|RP11-298I3.4_ENST00000557615.1_RNA|AJUBA_ENST00000361265.4_Frame_Shift_Del_p.G48fs	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	48	PreLIM.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										CTCCTCGGGGCCCTGACTTCC	0.682																																						uc001whz.2		NA																	0					0						c.(142-144)GGGfs		ajuba isoform 1							24.0	28.0	27.0					14																	23451332		2201	4300	6501	SO:0001589	frameshift_variant	84962				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	g.chr14:23451332delC	AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"""jub, ajuba homolog (Xenopus laevis)"""	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.144delG	14.37:g.23451332delC	ENSP00000262713:p.Gly48fs						p.G48fs	NM_032876	NP_116265	Q96IF1	JUB_HUMAN		GBM - Glioblastoma multiforme(265;0.0122)	1	520	-	all_cancers(95;4.6e-05)		48			PreLIM.		A8MX18|D3DS37	Frame_Shift_Del	DEL	ENST00000262713.2	37	c.144delG	CCDS9581.1																																																																																				0.682	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2			115	12	NA	NA	NA	NA	115	12	---	---	---	---
MBD1	4152	broad.mit.edu	37	18	47800213	47800214	+	Frame_Shift_Ins	INS	-	-	AC			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr18:47800213_47800214insAC	ENST00000591416.1	-	12	1597_1598	c.1166_1167insGT	c.(1165-1167)gtcfs	p.V389fs	MBD1_ENST00000457839.2_Frame_Shift_Ins_p.V414fs|MBD1_ENST00000269471.5_Frame_Shift_Ins_p.V366fs|MBD1_ENST00000585595.1_Frame_Shift_Ins_p.V414fs|MBD1_ENST00000347968.3_Frame_Shift_Ins_p.V333fs|MBD1_ENST00000339998.6_Frame_Shift_Ins_p.V389fs|MBD1_ENST00000398495.2_Frame_Shift_Ins_p.V358fs|MBD1_ENST00000398488.1_Frame_Shift_Ins_p.V333fs|MBD1_ENST00000424334.2_Frame_Shift_Ins_p.V440fs|MBD1_ENST00000436910.1_Frame_Shift_Ins_p.V366fs|MBD1_ENST00000349085.2_Frame_Shift_Ins_p.V333fs|MBD1_ENST00000398493.1_Frame_Shift_Ins_p.V333fs|MBD1_ENST00000353909.3_Frame_Shift_Ins_p.V340fs|MBD1_ENST00000588937.1_Frame_Shift_Ins_p.V366fs|MBD1_ENST00000590208.1_Frame_Shift_Ins_p.V389fs|MBD1_ENST00000587605.1_Frame_Shift_Ins_p.V333fs|MBD1_ENST00000382948.5_Frame_Shift_Ins_p.V389fs|MBD1_ENST00000269468.5_Frame_Shift_Ins_p.V389fs|MBD1_ENST00000585672.1_Frame_Shift_Ins_p.V339fs|MBD1_ENST00000591535.1_Frame_Shift_Ins_p.V366fs			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	389					negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						ACTCTGACCAGACACTGGGCAG	0.609																																						uc010dow.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1165-1167)GTCfs		methyl-CpG binding domain protein 1 isoform 1																																				SO:0001589	frameshift_variant	4152				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr18:47800213_47800214insAC	Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.1165_1166dupGT	18.37:g.47800216_47800217dupAC	ENSP00000467017:p.Val389fs					MBD1_uc002lef.2_Frame_Shift_Ins_p.V140fs|MBD1_uc002leg.2_Frame_Shift_Ins_p.V339fs|MBD1_uc010xdi.1_Frame_Shift_Ins_p.V440fs|MBD1_uc002leh.3_Frame_Shift_Ins_p.V333fs|MBD1_uc002len.2_Frame_Shift_Ins_p.V389fs|MBD1_uc002lei.3_Frame_Shift_Ins_p.V389fs|MBD1_uc002lej.3_Frame_Shift_Ins_p.V333fs|MBD1_uc002lek.3_Frame_Shift_Ins_p.V340fs|MBD1_uc002lel.3_Frame_Shift_Ins_p.V366fs|MBD1_uc002lem.3_Frame_Shift_Ins_p.V389fs|MBD1_uc010xdj.1_Frame_Shift_Ins_p.V333fs|MBD1_uc010xdk.1_Frame_Shift_Ins_p.V414fs|MBD1_uc010dox.1_Frame_Shift_Ins_p.V366fs|MBD1_uc002leo.2_Frame_Shift_Ins_p.V389fs	p.V389fs	NM_015846	NP_056671	Q9UIS9	MBD1_HUMAN			12	1603_1604	-			389					A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Frame_Shift_Ins	INS	ENST00000591416.1	37	c.1166_1167insGT	CCDS11943.1																																																																																				0.609	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3	NM_015846		43	91	NA	NA	NA	NA	43	91	---	---	---	---
ZNF208	7757	broad.mit.edu	37	19	22154308	22154308	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr19:22154308delT	ENST00000397126.4	-	4	3676	c.3528delA	c.(3526-3528)aaafs	p.K1176fs	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	1176					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAACAAAGCCTTTGCCACATT	0.383																																						uc002nqp.2		NA																	0				ovary(5)|skin(2)	7						c.(3142-3144)AAAfs		zinc finger protein 208							34.0	37.0	36.0					19																	22154308		2108	4232	6340	SO:0001589	frameshift_variant	7757							g.chr19:22154308delT	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.3528delA	19.37:g.22154308delT	ENSP00000380315:p.Lys1176fs					ZNF208_uc002nqo.1_Intron	p.K1048fs	NM_007153	NP_009084					6	3293	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Frame_Shift_Del	DEL	ENST00000397126.4	37	c.3144delA	CCDS54240.1																																																																																				0.383	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		10	66	NA	NA	NA	NA	10	66	---	---	---	---
PPP1R3D	5509	broad.mit.edu	37	20	58514574	58514577	+	Frame_Shift_Del	DEL	TTGA	TTGA	-			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr20:58514574_58514577delTTGA	ENST00000370996.3	-	1	775_778	c.410_413delTCAA	c.(409-414)atcaacfs	p.IN137fs	FAM217B_ENST00000360816.3_5'Flank|FAM217B_ENST00000358293.3_Intron	NM_006242.3	NP_006233.1	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	137					dephosphorylation (GO:0016311)|glycogen metabolic process (GO:0005977)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)	glycogen granule (GO:0042587)|intracellular membrane-bounded organelle (GO:0043231)	protein serine/threonine phosphatase activity (GO:0004722)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1)	13	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			CAGGTCCGAGTTGATTGCGAGCCG	0.681																																						uc002ybb.2		NA																	0					0						c.(409-414)ATCAACfs		protein phosphatase 1, regulatory subunit 3D																																				SO:0001589	frameshift_variant	5509				glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity	g.chr20:58514574_58514577delTTGA	Y18206	CCDS13483.1	20q13.3	2012-04-17	2011-10-04	2001-08-01	ENSG00000132825	ENSG00000132825		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9294	protein-coding gene	gene with protein product		603326	"""protein phosphatase 1, regulatory (inhibitor) subunit 3D"""	PPP1R6		9414128, 9275233	Standard	NM_006242		Approved		uc002ybb.3	O95685	OTTHUMG00000032876	ENST00000370996.3:c.410_413delTCAA	20.37:g.58514574_58514577delTTGA	ENSP00000360035:p.Ile137fs					C20orf177_uc002yba.2_Intron|C20orf177_uc010zzx.1_5'Flank|C20orf177_uc002ybc.2_5'Flank	p.I137fs	NM_006242	NP_006233	O95685	PPR3D_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.12e-09)		1	776_779	-	all_lung(29;0.00391)		137_138					Q6DK02	Frame_Shift_Del	DEL	ENST00000370996.3	37	c.410_413delTCAA	CCDS13483.1																																																																																				0.681	PPP1R3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079940.2	NM_006242		22	26	NA	NA	NA	NA	22	26	---	---	---	---
EIF4G1	1981	broad.mit.edu	37	3	184039744	184039746	+	In_Frame_Del	DEL	GAA	GAA	-	rs530167757	byFrequency	TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr3:184039744_184039746delGAA	ENST00000346169.2	+	10	1643_1645	c.1372_1374delGAA	c.(1372-1374)gaadel	p.E465del	EIF4G1_ENST00000352767.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000434061.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000441154.1_In_Frame_Del_p.E301del|EIF4G1_ENST00000392537.2_In_Frame_Del_p.E378del|EIF4G1_ENST00000414031.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000424196.1_In_Frame_Del_p.E472del|EIF4G1_ENST00000435046.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000342981.4_In_Frame_Del_p.E465del|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000382330.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000411531.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000319274.6_In_Frame_Del_p.E465del|EIF4G1_ENST00000427845.1_In_Frame_Del_p.E378del|EIF4G1_ENST00000350481.5_In_Frame_Del_p.E301del	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	465	Poly-Glu.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGAGGAAATGgaagaagaagaag	0.562																																						uc003fnp.2		NA																	0				lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(1372-1374)GAAdel		eukaryotic translation initiation factor 4																																				SO:0001651	inframe_deletion	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184039744_184039746delGAA	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.1372_1374delGAA	3.37:g.184039753_184039755delGAA	ENSP00000316879:p.Glu465del					EIF4G1_uc003fno.1_In_Frame_Del_p.E406del|EIF4G1_uc010hxw.1_In_Frame_Del_p.E301del|EIF4G1_uc003fnt.2_In_Frame_Del_p.E176del|EIF4G1_uc003fnq.2_In_Frame_Del_p.E378del|EIF4G1_uc003fnr.2_In_Frame_Del_p.E301del|EIF4G1_uc010hxx.2_In_Frame_Del_p.E472del|EIF4G1_uc003fns.2_In_Frame_Del_p.E425del|EIF4G1_uc010hxy.2_In_Frame_Del_p.E472del|EIF4G1_uc003fnv.3_In_Frame_Del_p.E465del|EIF4G1_uc003fnu.3_In_Frame_Del_p.E465del|EIF4G1_uc003fnw.2_In_Frame_Del_p.E472del|EIF4G1_uc003fnx.2_In_Frame_Del_p.E269del|EIF4G1_uc003fny.3_In_Frame_Del_p.E269del	p.E465del	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		10	1570_1572	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		465			Poly-Glu.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	In_Frame_Del	DEL	ENST00000346169.2	37	c.1372_1374delGAA	CCDS3259.1																																																																																				0.562	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		7	190	NA	NA	NA	NA	7	190	---	---	---	---
USP38	84640	broad.mit.edu	37	4	144106780	144106780	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr4:144106780delG	ENST00000307017.4	+	1	683	c.177delG	c.(175-177)cagfs	p.Q59fs	USP38_ENST00000510377.1_Frame_Shift_Del_p.Q59fs|RP11-284M14.1_ENST00000507486.1_RNA|RP11-284M14.1_ENST00000507826.1_RNA	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	59					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					TCCAGCGGCAGGTGGGGCACC	0.627																																						uc003ijb.2		NA																	0				lung(2)|ovary(1)|breast(1)|pancreas(1)	5						c.(175-177)CAGfs		ubiquitin specific peptidase 38							63.0	54.0	57.0					4																	144106780		2203	4300	6503	SO:0001589	frameshift_variant	84640				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr4:144106780delG	AF211481	CCDS3758.1	4q31.1	2008-02-05	2005-08-08		ENSG00000170185	ENSG00000170185		"""Ubiquitin-specific peptidases"""	20067	protein-coding gene	gene with protein product			"""ubiquitin specific protease 38"""			12838346	Standard	NM_032557		Approved	KIAA1891, HP43.8KD	uc003ijb.3	Q8NB14	OTTHUMG00000161420	ENST00000307017.4:c.177delG	4.37:g.144106780delG	ENSP00000303434:p.Gln59fs					USP38_uc003ija.3_Frame_Shift_Del_p.Q59fs|USP38_uc003ijc.2_RNA	p.Q59fs	NM_032557	NP_115946	Q8NB14	UBP38_HUMAN			1	711	+	all_hematologic(180;0.158)		59					B3KX93|Q3ZCV1|Q8NDF5|Q96DK6|Q96PZ6|Q9BY55	Frame_Shift_Del	DEL	ENST00000307017.4	37	c.177delG	CCDS3758.1																																																																																				0.627	USP38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364869.1	NM_032557		17	9	NA	NA	NA	NA	17	9	---	---	---	---
HIST1H2BG	8339	broad.mit.edu	37	6	26216820	26216831	+	In_Frame_Del	DEL	CCTTCTTGGAAC	CCTTCTTGGAAC	-	rs143774290		TCGA-CN-6997-01A-11D-2012-08	TCGA-CN-6997-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	11b531cc-d9d9-496a-8448-e654ba71c414	1ec354c8-1eb5-4f54-96ab-3e66d87e167f	g.chr6:26216820_26216831delCCTTCTTGGAAC	ENST00000244601.3	-	1	41_52	c.41_52delGTTCCAAGAAGG	c.(40-54)ggttccaagaaggct>gct	p.GSKK14del	HIST1H2AE_ENST00000303910.2_5'Flank	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	14					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K17E(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				TTGGTCACAGCCTTCTTGGAACCCTTCTTCGG	0.491																																						uc003ngz.2		NA																	1	Substitution - Missense(1)	p.K17E(1)	ovary(1)	ovary(1)	1						c.(40-54)GGTTCCAAGAAGGCT>GCT		histone cluster 1, H2bg																																				SO:0001651	inframe_deletion	8339				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26216820_26216831delCCTTCTTGGAAC	M60750	CCDS4594.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000187990	ENSG00000273802		"""Histones / Replication-dependent"""	4746	protein-coding gene	gene with protein product		602798	"""H2B histone family, member A"", ""histone 1, H2bg"""	H2BFA		1916825, 12408966	Standard	NM_003518		Approved	H2B/a, H2B.1A	uc003ngz.2	P62807	OTTHUMG00000014446	ENST00000244601.3:c.41_52delGTTCCAAGAAGG	6.37:g.26216820_26216831delCCTTCTTGGAAC	ENSP00000244601:p.Gly14_Lys17del					HIST1H2AE_uc003nha.1_5'Flank	p.GSKK14del	NM_003518	NP_003509	P62807	H2B1C_HUMAN			1	42_53	-		all_hematologic(11;0.196)	14_17					P02278|Q3B872|Q4VB69|Q93078|Q93080	In_Frame_Del	DEL	ENST00000244601.3	37	c.41_52delGTTCCAAGAAGG	CCDS4594.1																																																																																				0.491	HIST1H2BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040109.2	NM_003518		32	48	NA	NA	NA	NA	32	48	---	---	---	---
