#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
CA6	765	broad.mit.edu	37	1	9009363	9009363	+	Missense_Mutation	SNP	G	G	A	rs201856914		TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr1:9009363G>A	ENST00000377443.2	+	2	125	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	CA6_ENST00000476083.1_Intron|CA6_ENST00000377436.3_Missense_Mutation_p.A41T|CA6_ENST00000480186.3_Missense_Mutation_p.A41T|CA6_ENST00000377442.2_Intron	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI	41					bicarbonate transport (GO:0015701)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|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;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)	Mafenide(DB06795)|Zonisamide(DB00909)	GCACTACCCCGCCTGTGGGGG	0.597																																						uc001apm.2		NA																	0				ovary(2)	2						c.(121-123)GCC>ACC		carbonic anhydrase VI precursor							40.0	39.0	39.0					1																	9009363		2203	4300	6503	SO:0001583	missense	765				one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding	g.chr1:9009363G>A	M57892	CCDS30578.1, CCDS57970.1, CCDS57971.1	1p36.2	2008-02-05			ENSG00000131686	ENSG00000131686	4.2.1.1	"""Carbonic anhydrases"""	1380	protein-coding gene	gene with protein product		114780				9691177	Standard	NM_001215		Approved		uc031plc.1	P23280	OTTHUMG00000001763	ENST00000377443.2:c.121G>A	1.37:g.9009363G>A	ENSP00000366662:p.Ala41Thr					CA6_uc009vmn.2_Intron	p.A41T	NM_001215	NP_001206	P23280	CAH6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)	2	145	+	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	41					E7EMQ1|Q5FBW3|Q5FC00|Q96QX8|Q9UF03	Missense_Mutation	SNP	ENST00000377443.2	37	c.121G>A	CCDS30578.1	.	.	.	.	.	.	.	.	.	.	G	9.698	1.153811	0.21371	.	.	ENSG00000131686	ENST00000319474;ENST00000549778;ENST00000377443;ENST00000377436	T;T;T;T	0.67171	-0.25;0.63;0.63;0.63	5.55	-5.06	0.02946	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.703847	0.14400	N	0.321964	T	0.25754	0.0627	N	0.02708	-0.52	0.09310	N	1	B	0.26547	0.152	B	0.14578	0.011	T	0.32534	-0.9903	10	0.13853	T	0.58	.	1.0971	0.01676	0.4331:0.1149:0.2066:0.2453	.	41	P23280	CAH6_HUMAN	T	41	ENSP00000325786:A41T;ENSP00000447108:A41T;ENSP00000366662:A41T;ENSP00000366654:A41T	ENSP00000325786:A41T	A	+	1	0	CA6	8931950	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.029000	0.13666	-0.535000	0.06307	-0.150000	0.13652	GCC		0.597	CA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000004911.1			10	27	0	0	0	0	10	27				
GPR3	2827	broad.mit.edu	37	1	27721213	27721213	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr1:27721213T>C	ENST00000374024.3	+	2	1010	c.911T>C	c.(910-912)gTg>gCg	p.V304A		NM_005281.3	NP_005272.1	P46089	GPR3_HUMAN	G protein-coupled receptor 3	304					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|regulation of meiosis (GO:0040020)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|lung(3)|ovary(1)|skin(1)	8		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)		AACCAGGATGTGCAGAAAGTG	0.547																																						uc001bod.2		NA																	0				ovary(1)	1						c.(910-912)GTG>GCG		G protein-coupled receptor 3							214.0	194.0	201.0					1																	27721213		2203	4300	6503	SO:0001583	missense	2827				activation of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane		g.chr1:27721213T>C	BC032702	CCDS303.1	1p36.1-p35	2012-08-21			ENSG00000181773	ENSG00000181773		"""GPCR / Class A : Orphans"""	4484	protein-coding gene	gene with protein product		600241				7851889	Standard	NM_005281		Approved	ACCA	uc001bod.4	P46089	OTTHUMG00000003397	ENST00000374024.3:c.911T>C	1.37:g.27721213T>C	ENSP00000363136:p.Val304Ala						p.V304A	NM_005281	NP_005272	P46089	GPR3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)	2	1006	+		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)	304			Cytoplasmic (Potential).		A8K570	Missense_Mutation	SNP	ENST00000374024.3	37	c.911T>C	CCDS303.1	.	.	.	.	.	.	.	.	.	.	T	16.36	3.102375	0.56183	.	.	ENSG00000181773	ENST00000374024	T	0.39592	1.07	5.93	5.93	0.95920	.	0.082513	0.51477	D	0.000082	T	0.30386	0.0763	N	0.14661	0.345	0.47659	D	0.99948	B	0.20164	0.042	B	0.16289	0.015	T	0.08597	-1.0714	10	0.87932	D	0	.	16.0564	0.80809	0.0:0.0:0.0:1.0	.	304	P46089	GPR3_HUMAN	A	304	ENSP00000363136:V304A	ENSP00000363136:V304A	V	+	2	0	GPR3	27593800	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	8.040000	0.89188	2.271000	0.75665	0.459000	0.35465	GTG		0.547	GPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009522.1	NM_005281		16	226	0	0	0	0	16	226				
PTCH2	8643	broad.mit.edu	37	1	45293249	45293249	+	Missense_Mutation	SNP	C	C	G	rs369083877		TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr1:45293249C>G	ENST00000372192.3	-	15	2326	c.2196G>C	c.(2194-2196)agG>agC	p.R732S	PTCH2_ENST00000447098.2_Missense_Mutation_p.R732S	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	732					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GGGAGAAGTACCTGAGCTGGG	0.637									Basal Cell Nevus syndrome																													uc010olf.1		NA																	0				lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1)	18						c.(2194-2196)AGG>AGC		patched 2							65.0	74.0	71.0					1																	45293249		2203	4300	6503	SO:0001583	missense	8643	Basal_Cell_Nevus_syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45293249C>G	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.2196G>C	1.37:g.45293249C>G	ENSP00000361266:p.Arg732Ser					PTCH2_uc010olg.1_Missense_Mutation_p.R430S	p.R732S	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN			15	2208	-	Acute lymphoblastic leukemia(166;0.155)		732			Extracellular (Potential).		O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	ENST00000372192.3	37	c.2196G>C	CCDS516.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.859267	0.51376	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.92397	-3.03;-3.03	4.07	4.07	0.47477	.	0.000000	0.44285	D	0.000474	D	0.88426	0.6433	L	0.39245	1.2	0.51012	D	0.999904	B;P	0.38020	0.321;0.615	B;B	0.35550	0.205;0.146	D	0.90242	0.4287	10	0.72032	D	0.01	-16.9366	16.8219	0.85748	0.0:1.0:0.0:0.0	.	732;732	Q9Y6C5-2;Q9Y6C5	.;PTC2_HUMAN	S	732	ENSP00000389703:R732S;ENSP00000361266:R732S	ENSP00000361266:R732S	R	-	3	2	PTCH2	45065836	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.659000	0.37387	2.276000	0.75962	0.557000	0.71058	AGG		0.637	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		9	63	0	0	0	0	9	63				
CYP2J2	1573	broad.mit.edu	37	1	60377930	60377930	+	Missense_Mutation	SNP	T	T	C	rs55753213		TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr1:60377930T>C	ENST00000371204.3	-	3	470	c.427A>G	c.(427-429)Aca>Gca	p.T143A	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	143			T -> A (in allele CYP2J2*2; significantly reduced metabolism of both arachidonic acid and linoleic acid; dbSNP:rs55753213). {ECO:0000269|PubMed:11901223}.		arachidonic acid metabolic process (GO:0019369)|epoxygenase P450 pathway (GO:0019373)|icosanoid metabolic process (GO:0006690)|linoleic acid metabolic process (GO:0043651)|regulation of heart contraction (GO:0008016)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	arachidonic acid 11,12-epoxygenase activity (GO:0008405)|arachidonic acid 14,15-epoxygenase activity (GO:0008404)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|linoleic acid epoxygenase activity (GO:0071614)			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)				Apixaban(DB06605)|Astemizole(DB00637)|Cholecalciferol(DB00169)|Levomilnacipran(DB08918)|Masoprocol(DB00179)|Rivaroxaban(DB06228)	CTTAGTGCTGTCAGAGTGAAC	0.433																																						uc001czq.2		NA																	0				ovary(1)	1	GRCh37	CM022201	CYP2J2	M	rs55753213	c.(427-429)ACA>GCA		cytochrome P450, family 2, subfamily J,							201.0	169.0	180.0					1																	60377930		2203	4300	6503	SO:0001583	missense	1573				epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity	g.chr1:60377930T>C	BC032594	CCDS613.1	1p31.3-p31.2	2008-02-05	2003-01-14		ENSG00000134716	ENSG00000134716		"""Cytochrome P450s"""	2634	protein-coding gene	gene with protein product		601258	"""cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) polypeptide 2"""			9570962	Standard	NM_000775		Approved		uc001czq.3	P51589	OTTHUMG00000008991	ENST00000371204.3:c.427A>G	1.37:g.60377930T>C	ENSP00000360247:p.Thr143Ala						p.T143A	NM_000775	NP_000766	P51589	CP2J2_HUMAN			3	432	-	all_cancers(7;0.000396)		143					B2RD33|Q8TF13	Missense_Mutation	SNP	ENST00000371204.3	37	c.427A>G	CCDS613.1	.	.	.	.	.	.	.	.	.	.	T	5.739	0.320871	0.10845	.	.	ENSG00000134716	ENST00000371204	T	0.78816	-1.21	5.85	2.27	0.28462	.	0.837573	0.11087	N	0.601167	T	0.63094	0.2482	L	0.35288	1.05	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.47433	-0.9118	10	0.27082	T	0.32	.	3.8339	0.08885	0.3661:0.1466:0.0:0.4873	rs55753213	143	P51589	CP2J2_HUMAN	A	143	ENSP00000360247:T143A	ENSP00000360247:T143A	T	-	1	0	CYP2J2	60150518	0.010000	0.17322	0.044000	0.18714	0.372000	0.29890	1.077000	0.30741	0.135000	0.18707	-0.256000	0.11100	ACA		0.433	CYP2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024940.1	NM_000775		5	61	0	0	0	0	5	61				
LRIG2	9860	broad.mit.edu	37	1	113636139	113636139	+	Silent	SNP	A	A	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr1:113636139A>T	ENST00000361127.5	+	4	666	c.468A>T	c.(466-468)atA>atT	p.I156I		NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	156					innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		CAAATATAATATCAGAAATCA	0.358																																						uc001edf.1		NA																	0				ovary(3)	3						c.(466-468)ATA>ATT		leucine-rich repeats and immunoglobulin-like							65.0	66.0	65.0					1																	113636139		2203	4300	6503	SO:0001819	synonymous_variant	9860					cytoplasm|integral to membrane|plasma membrane		g.chr1:113636139A>T	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.468A>T	1.37:g.113636139A>T						LRIG2_uc009wgn.1_Silent_p.I53I	p.I156I	NM_014813	NP_055628	O94898	LRIG2_HUMAN		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)	4	666	+	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)	156			LRR 4.|Extracellular (Potential).		Q9NSN2	Silent	SNP	ENST00000361127.5	37	c.468A>T	CCDS30808.1																																																																																				0.358	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813		7	31	0	0	0	0	7	31				
NBPF10	100132406	broad.mit.edu	37	1	145323690	145323690	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr1:145323690A>G	ENST00000342960.5	+	27	3562	c.3527A>G	c.(3526-3528)gAc>gGc	p.D1176G	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	763						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GAAGACCAAGACCCACCATGC	0.463																																						uc001end.3		NA																	0					0						c.(3751-3753)GAC>GGC		hypothetical protein LOC100132406																																				SO:0001583	missense	100132406							g.chr1:145323690A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.3527A>G	1.37:g.145323690A>G	ENSP00000345684:p.Asp1176Gly					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc010oym.1_Intron|NBPF10_uc010oyn.1_Intron|NBPF10_uc010oyo.1_Intron|NBPF10_uc010oyp.1_5'Flank	p.D1251G	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	29	3787	+	all_hematologic(923;0.032)		1176					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.3752A>G	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.448582	0.00178	.	.	ENSG00000163386	ENST00000342960	T	0.05717	3.4	0.429	0.429	0.16506	.	.	.	.	.	T	0.00695	0.0023	N	0.10972	0.075	0.09310	N	1	.	.	.	.	.	.	T	0.47182	-0.9137	6	0.21014	T	0.42	.	.	.	.	.	.	.	.	G	1176	ENSP00000345684:D1176G	ENSP00000345684:D1176G	D	+	2	0	NBPF10	144035047	0.000000	0.05858	0.001000	0.08648	0.039000	0.13416	-0.446000	0.06837	-1.047000	0.03242	-1.680000	0.00737	GAC		0.463	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		6	822	0	0	0	0	6	822				
FLG	2312	broad.mit.edu	37	1	152282261	152282261	+	Missense_Mutation	SNP	G	G	T	rs145738429		TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr1:152282261G>T	ENST00000368799.1	-	3	5136	c.5101C>A	c.(5101-5103)Caa>Aaa	p.Q1701K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1701	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATGAATCTTGTCTGCGCCCA	0.562									Ichthyosis																													uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(5101-5103)CAA>AAA		filaggrin							254.0	256.0	255.0					1																	152282261		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282261G>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5101C>A	1.37:g.152282261G>T	ENSP00000357789:p.Gln1701Lys						p.Q1701K	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5137	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1701			Ser-rich.|Filaggrin 10.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.5101C>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	7.137	0.581133	0.13686	.	.	ENSG00000143631	ENST00000368799	T	0.05319	3.46	2.69	2.69	0.31865	.	.	.	.	.	T	0.07098	0.0180	M	0.69823	2.125	0.09310	N	1	P	0.44776	0.843	D	0.64506	0.926	T	0.15838	-1.0423	9	0.06099	T	0.92	.	8.9636	0.35863	0.0:0.0:1.0:0.0	.	1701	P20930	FILA_HUMAN	K	1701	ENSP00000357789:Q1701K	ENSP00000357789:Q1701K	Q	-	1	0	FLG	150548885	0.002000	0.14202	0.019000	0.16419	0.008000	0.06430	0.160000	0.16462	1.521000	0.48983	0.306000	0.20318	CAA		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		16	439	1	0	6.32e-08	1.59e-07	16	439				
SPTA1	6708	broad.mit.edu	37	1	158639216	158639216	+	Silent	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr1:158639216T>C	ENST00000368147.4	-	14	1995	c.1815A>G	c.(1813-1815)gcA>gcG	p.A605A		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	605					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTTCATCATCTGCCAACTTTT	0.403																																						uc001fst.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(1813-1815)GCA>GCG		spectrin, alpha, erythrocytic 1							284.0	267.0	273.0					1																	158639216		1917	4135	6052	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158639216T>C	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1815A>G	1.37:g.158639216T>C							p.A605A	NM_003126	NP_003117	P02549	SPTA1_HUMAN			14	2014	-	all_hematologic(112;0.0378)		605			Spectrin 7.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.1815A>G	CCDS41423.1																																																																																				0.403	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		16	269	0	0	0	0	16	269				
ACKR1	2532	broad.mit.edu	37	1	159175972	159175972	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr1:159175972C>A	ENST00000368122.2	+	2	1422	c.743C>A	c.(742-744)gCc>gAc	p.A248D	CTA-134P22.2_ENST00000609696.1_RNA|DARC_ENST00000368121.2_Missense_Mutation_p.A250D|DARC_ENST00000537147.1_Missense_Mutation_p.A248D	NM_002036.3	NP_002027.2	Q16570	ACKR1_HUMAN		248					chemokine-mediated signaling pathway (GO:0070098)|defense response (GO:0006952)|inflammatory response (GO:0006954)|regulation of chemokine production (GO:0032642)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					ATCCTGTGGGCCTGGTTTATT	0.537																																						uc001fto.2		NA																	0				ovary(1)|lung(1)	2						c.(742-744)GCC>GAC		Duffy blood group antigen isoform b							101.0	101.0	101.0					1																	159175972		2203	4300	6503	SO:0001583	missense	2532				defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity	g.chr1:159175972C>A																												ENST00000368122.2:c.743C>A	1.37:g.159175972C>A	ENSP00000357104:p.Ala248Asp					DARC_uc001ftp.3_Missense_Mutation_p.A250D	p.A248D	NM_002036	NP_002027	Q16570	DUFFY_HUMAN			2	983	+	all_hematologic(112;0.0429)		248			Helical; Name=6; (Potential).		A8YPG5|O75898|Q16300|Q8WWE3|Q9UJP0|Q9UKZ5|Q9UKZ6|Q9UQE1	Missense_Mutation	SNP	ENST00000368122.2	37	c.743C>A	CCDS1183.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.237565	0.22711	.	.	ENSG00000213088	ENST00000368122;ENST00000537147;ENST00000359381;ENST00000368121	T;T;T	0.39406	1.08;1.08;1.08	5.51	0.668	0.17912	.	1.720750	0.04521	U	0.384551	T	0.19525	0.0469	N	0.19112	0.55	0.09310	N	1	B;B	0.32010	0.351;0.351	B;B	0.43123	0.409;0.409	T	0.49163	-0.8968	10	0.87932	D	0	-0.7238	7.7498	0.28890	0.0:0.3187:0.0:0.6813	.	250;248	Q5Y7A1;Q16570	.;DUFFY_HUMAN	D	248;248;248;250	ENSP00000357104:A248D;ENSP00000441985:A248D;ENSP00000357103:A250D	ENSP00000352341:A248D	A	+	2	0	DARC	157442596	0.672000	0.27530	0.047000	0.18901	0.172000	0.22775	0.197000	0.17197	0.122000	0.18314	-0.137000	0.14449	GCC		0.537	DARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090338.2			16	134	1	0	2.23e-06	5.58e-06	16	134				
SLC19A2	10560	broad.mit.edu	37	1	169439294	169439294	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr1:169439294A>G	ENST00000236137.5	-	3	1174	c.938T>C	c.(937-939)gTg>gCg	p.V313A	SLC19A2_ENST00000367804.4_Missense_Mutation_p.V112A	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	313					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)	TGTGTAGTTCACAACTTGAAA	0.498																																						uc001gge.3		NA																	0					0						c.(937-939)GTG>GCG		solute carrier family 19, member 2							112.0	109.0	110.0					1																	169439294		2203	4300	6503	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.chr1:169439294A>G	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.938T>C	1.37:g.169439294A>G	ENSP00000236137:p.Val313Ala					SLC19A2_uc001ggf.3_Missense_Mutation_p.V112A	p.V313A	NM_006996	NP_008927	O60779	S19A2_HUMAN			3	1142	-	all_hematologic(923;0.208)		313			Extracellular (Potential).		B2R9H0|B4E1X4|Q8WV87|Q9UBL7|Q9UKJ2|Q9UN31|Q9UN43	Missense_Mutation	SNP	ENST00000236137.5	37	c.938T>C	CCDS1280.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.130314	0.77549	.	.	ENSG00000117479	ENST00000236137;ENST00000367804;ENST00000367802	D;T;D	0.86562	-2.14;-1.45;-2.14	5.87	5.87	0.94306	Major facilitator superfamily domain, general substrate transporter (1);	0.296643	0.33650	N	0.004683	T	0.76463	0.3991	L	0.33792	1.035	0.30515	N	0.768983	P;B	0.38395	0.629;0.174	B;B	0.41666	0.363;0.202	T	0.76764	-0.2839	9	0.21540	T	0.41	-11.3948	16.26	0.82535	1.0:0.0:0.0:0.0	.	112;313	O60779-2;O60779	.;S19A2_HUMAN	A	313;112;275	ENSP00000236137:V313A;ENSP00000356778:V112A;ENSP00000356776:V275A	ENSP00000236137:V313A	V	-	2	0	SLC19A2	167705918	0.992000	0.36948	0.952000	0.39060	0.998000	0.95712	8.962000	0.93254	2.240000	0.73641	0.477000	0.44152	GTG		0.498	SLC19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086106.1	NM_006996		11	114	0	0	0	0	11	114				
KCTD3	51133	broad.mit.edu	37	1	215777531	215777531	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr1:215777531T>G	ENST00000259154.4	+	13	1490	c.1196T>G	c.(1195-1197)gTg>gGg	p.V399G		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	399					protein homooligomerization (GO:0051260)					breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		GCAGTACGAGTGATTGTACAA	0.453																																						uc001hks.2		NA																	0				ovary(3)	3						c.(1195-1197)GTG>GGG		potassium channel tetramerisation domain							144.0	136.0	139.0					1																	215777531		2203	4300	6503	SO:0001583	missense	51133					voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr1:215777531T>G	AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"""potassium channel tetramerisation domain containing 3"""			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.1196T>G	1.37:g.215777531T>G	ENSP00000259154:p.Val399Gly					KCTD3_uc001hkt.2_Missense_Mutation_p.V399G|KCTD3_uc010pub.1_Missense_Mutation_p.V297G|KCTD3_uc009xdn.2_Missense_Mutation_p.V151G	p.V399G	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN		all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)	13	1490	+			399					A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Missense_Mutation	SNP	ENST00000259154.4	37	c.1196T>G	CCDS1515.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	32|32	5.136877|5.136877	0.94517|0.94517	.|.	.|.	ENSG00000136636|ENSG00000136636	ENST00000452413|ENST00000259154;ENST00000366946	.|T	.|0.09445	.|2.98	6.17|6.17	6.17|6.17	0.99709|0.99709	.|WD40 repeat-like-containing domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.39226|0.39226	0.1070|0.1070	M|M	0.85630|0.85630	2.765|2.765	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.83275	.|0.996;0.992;0.992;0.987	T|T	0.32798|0.32798	-0.9893|-0.9893	5|10	.|0.87932	.|D	.|0	-26.1638|-26.1638	16.0034|16.0034	0.80327|0.80327	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|151;151;399;399	.|B7ZAF7;B4DJX2;Q9Y597-2;Q9Y597	.|.;.;.;KCTD3_HUMAN	R|G	30|399;51	.|ENSP00000259154:V399G	.|ENSP00000259154:V399G	S|V	+|+	3|2	2|0	KCTD3|KCTD3	213844154|213844154	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.998000|0.998000	0.95712|0.95712	7.698000|7.698000	0.84413|0.84413	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	AGT|GTG		0.453	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	NM_016121		5	68	0	0	0	0	5	68				
RYR2	6262	broad.mit.edu	37	1	237659885	237659885	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr1:237659885T>C	ENST00000366574.2	+	20	2353	c.2036T>C	c.(2035-2037)gTg>gCg	p.V679A	RYR2_ENST00000360064.6_Missense_Mutation_p.V677A|RYR2_ENST00000542537.1_Missense_Mutation_p.V663A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	679	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAATTGATGGTGGACCACACA	0.493																																						uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(2035-2037)GTG>GCG		cardiac muscle ryanodine receptor							90.0	93.0	92.0					1																	237659885		1916	4120	6036	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237659885T>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.2036T>C	1.37:g.237659885T>C	ENSP00000355533:p.Val679Ala						p.V679A	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		20	2156	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	679			Cytoplasmic (By similarity).|B30.2/SPRY 1.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.2036T>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	T	29.9	5.048455	0.93740	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.74315	-0.83;-0.83;-0.83	5.88	5.88	0.94601	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.56097	D	0.000029	D	0.85309	0.5667	M	0.74258	2.255	0.80722	D	1	D	0.71674	0.998	D	0.65573	0.936	D	0.87045	0.2143	10	0.87932	D	0	.	16.2965	0.82776	0.0:0.0:0.0:1.0	.	679	Q92736	RYR2_HUMAN	A	679;677;663	ENSP00000355533:V679A;ENSP00000353174:V677A;ENSP00000443798:V663A	ENSP00000353174:V677A	V	+	2	0	RYR2	235726508	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.243000	0.73865	0.528000	0.53228	GTG		0.493	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		4	79	0	0	0	0	4	79				
RYR2	6262	broad.mit.edu	37	1	237993897	237993897	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr1:237993897A>G	ENST00000366574.2	+	103	15040	c.14723A>G	c.(14722-14724)cAc>cGc	p.H4908R	RYR2_ENST00000360064.6_Missense_Mutation_p.H4914R|RYR2_ENST00000542537.1_Missense_Mutation_p.H4892R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4908					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTTGAAACCCACACTTTACAG	0.463																																						uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(14722-14724)CAC>CGC		cardiac muscle ryanodine receptor							199.0	187.0	191.0					1																	237993897		1970	4170	6140	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237993897A>G	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.14723A>G	1.37:g.237993897A>G	ENSP00000355533:p.His4908Arg					RYR2_uc010pyb.1_Intron	p.H4908R	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		103	14843	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4908					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.14723A>G	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.705777	0.89018	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.99483	-5.99;-5.98;-5.98	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000003	D	0.99677	0.9879	H	0.96460	3.825	0.80722	D	1	D	0.57899	0.981	D	0.69824	0.966	D	0.97352	0.9964	10	0.87932	D	0	-15.0208	15.3997	0.74830	1.0:0.0:0.0:0.0	.	4908	Q92736	RYR2_HUMAN	R	4908;4914;4892	ENSP00000355533:H4908R;ENSP00000353174:H4914R;ENSP00000443798:H4892R	ENSP00000353174:H4914R	H	+	2	0	RYR2	236060520	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.284000	0.95882	2.030000	0.59900	0.459000	0.35465	CAC		0.463	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		13	134	0	0	0	0	13	134				
ITGA8	8516	broad.mit.edu	37	10	15647748	15647748	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr10:15647748G>T	ENST00000378076.3	-	19	2298	c.1945C>A	c.(1945-1947)Cct>Act	p.P649T	ITGA8_ENST00000477064.1_5'Flank	NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	649					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TTCAAGTCAGGAACACACAGA	0.388																																						uc001ioc.1		NA																	0				ovary(3)|lung(3)	6						c.(1945-1947)CCT>ACT		integrin, alpha 8 precursor							104.0	91.0	95.0					10																	15647748		2203	4300	6503	SO:0001583	missense	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15647748G>T	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.1945C>A	10.37:g.15647748G>T	ENSP00000367316:p.Pro649Thr					ITGA8_uc010qcb.1_Missense_Mutation_p.P634T	p.P649T	NM_003638	NP_003629	P53708	ITA8_HUMAN			19	1945	-			649			Extracellular (Potential).		B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.1945C>A	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.597983	0.87055	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.48201	0.82	5.51	5.51	0.81932	Integrin alpha-2 (1);	0.000000	0.85682	D	0.000000	T	0.75295	0.3830	M	0.88704	2.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.79157	-0.1919	10	0.59425	D	0.04	.	19.427	0.94746	0.0:0.0:1.0:0.0	.	634;649	F5H818;P53708	.;ITA8_HUMAN	T	649;634	ENSP00000367316:P649T	ENSP00000367316:P649T	P	-	1	0	ITGA8	15687754	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.467000	0.90390	2.603000	0.88011	0.655000	0.94253	CCT		0.388	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		6	31	1	0	8.13e-05	0.000198451	6	31				
PLXDC2	84898	broad.mit.edu	37	10	20568717	20568717	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr10:20568717A>G	ENST00000377252.4	+	14	2400	c.1559A>G	c.(1558-1560)aAa>aGa	p.K520R	PLXDC2_ENST00000377242.3_Missense_Mutation_p.K471R|PLXDC2_ENST00000377238.2_3'UTR	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	520					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						GTTGGAGAGAAAGAAGGCTTT	0.423																																						uc001iqg.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1558-1560)AAA>AGA		plexin domain containing 2 precursor							95.0	94.0	95.0					10																	20568717		2203	4300	6503	SO:0001583	missense	84898					integral to membrane		g.chr10:20568717A>G	AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"""tumor endothelial marker 7-related precursor"""	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.1559A>G	10.37:g.20568717A>G	ENSP00000366460:p.Lys520Arg					PLXDC2_uc001iqh.1_Missense_Mutation_p.K471R|PLXDC2_uc009xkc.1_RNA	p.K520R	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN			14	2196	+			520			Cytoplasmic (Potential).		Q96E59|Q96PD9|Q96SU9	Missense_Mutation	SNP	ENST00000377252.4	37	c.1559A>G	CCDS7132.1	.	.	.	.	.	.	.	.	.	.	A	18.04	3.533669	0.64972	.	.	ENSG00000120594	ENST00000377252;ENST00000377242;ENST00000377238;ENST00000536022	T;T	0.31769	1.48;1.66	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.37652	0.1011	M	0.77103	2.36	0.58432	D	0.999997	P;P	0.45474	0.859;0.779	B;B	0.38458	0.274;0.141	T	0.47799	-0.9089	10	0.87932	D	0	.	16.1146	0.81295	1.0:0.0:0.0:0.0	.	471;520	Q6UX71-2;Q6UX71	.;PXDC2_HUMAN	R	520;471;383;506	ENSP00000366460:K520R;ENSP00000366450:K471R	ENSP00000366446:K383R	K	+	2	0	PLXDC2	20608723	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.531000	0.90610	2.260000	0.74910	0.528000	0.53228	AAA		0.423	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047101.2	NM_032812		3	44	0	0	0	0	3	44				
CTNNA3	29119	broad.mit.edu	37	10	69407256	69407256	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr10:69407256G>A	ENST00000433211.2	-	2	190	c.16C>T	c.(16-18)Cca>Tca	p.P6S	CTNNA3_ENST00000373744.4_Missense_Mutation_p.P6S|CTNNA3_ENST00000545309.1_Missense_Mutation_p.P6S	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						AATGTGATTGGTGTTTCAGCT	0.393																																						uc009xpn.1		NA																	0				skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						c.(16-18)CCA>TCA		catenin, alpha 3							151.0	142.0	145.0					10																	69407256		2203	4300	6503	SO:0001583	missense	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:69407256G>A	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.16C>T	10.37:g.69407256G>A	ENSP00000389714:p.Pro6Ser					CTNNA3_uc001jmw.2_Missense_Mutation_p.P6S|CTNNA3_uc001jmx.3_Missense_Mutation_p.P6S|CTNNA3_uc009xpo.1_5'UTR|CTNNA3_uc001jna.2_Missense_Mutation_p.P18S	p.P6S	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN			2	139	-			6						Missense_Mutation	SNP	ENST00000433211.2	37	c.16C>T	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025796	0.75390	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000545309;ENST00000330298;ENST00000540598	T;T;T;T	0.57907	1.52;1.52;0.66;0.37	5.71	5.71	0.89125	.	0.206071	0.28718	N	0.014369	T	0.64929	0.2643	L	0.40543	1.245	0.36161	D	0.848109	D;B;D	0.89917	1.0;0.097;0.993	D;B;D	0.80764	0.994;0.069;0.968	T	0.67983	-0.5529	10	0.41790	T	0.15	-11.9285	16.7673	0.85527	0.0:0.0:1.0:0.0	.	6;6;6	F2Z2R0;Q9UI47-2;Q9UI47	.;.;CTNA3_HUMAN	S	6	ENSP00000389714:P6S;ENSP00000362849:P6S;ENSP00000441444:P6S;ENSP00000330570:P6S	ENSP00000330570:P6S	P	-	1	0	CTNNA3	69077262	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	5.536000	0.67180	2.688000	0.91661	0.655000	0.94253	CCA		0.393	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		13	105	0	0	0	0	13	105				
USP54	159195	broad.mit.edu	37	10	75289616	75289616	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr10:75289616A>G	ENST00000339859.4	-	14	1982	c.1882T>C	c.(1882-1884)Ttt>Ctt	p.F628L	USP54_ENST00000394811.2_5'UTR|RNU6-883P_ENST00000384597.1_RNA|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000408019.1_Missense_Mutation_p.F628L|USP54_ENST00000319786.7_Missense_Mutation_p.F628L|USP54_ENST00000428547.1_Missense_Mutation_p.F478L			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	628					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GGTCCACCAAATTTAATGTCG	0.483											OREG0020266	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(195;880 2046 8854 25025 38456)	uc001juo.2		NA																	0				breast(3)|lung(2)|kidney(1)	6						c.(1882-1884)TTT>CTT		ubiquitin specific peptidase 54							73.0	75.0	74.0					10																	75289616		1888	4121	6009	SO:0001583	missense	159195				ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	g.chr10:75289616A>G	AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.1882T>C	10.37:g.75289616A>G	ENSP00000345216:p.Phe628Leu		OREG0020266	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1159	USP54_uc001juk.2_5'UTR|USP54_uc001jul.2_5'UTR|USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA|USP54_uc001jup.2_Missense_Mutation_p.F628L|USP54_uc010qkl.1_Missense_Mutation_p.F628L	p.F628L	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN			13	1899	-	Prostate(51;0.0112)		628					A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Missense_Mutation	SNP	ENST00000339859.4	37	c.1882T>C	CCDS7329.2	.	.	.	.	.	.	.	.	.	.	A	4.840	0.156172	0.09236	.	.	ENSG00000166348	ENST00000339859;ENST00000408019;ENST00000428547;ENST00000319786	T;T;T	0.21191	2.02;2.02;2.02	5.66	-8.32	0.00996	.	8.333760	0.00424	U	0.000070	T	0.07638	0.0192	N	0.14661	0.345	0.09310	N	1	B;B;B	0.10296	0.0;0.001;0.003	B;B;B	0.06405	0.001;0.002;0.001	T	0.30387	-0.9980	10	0.07482	T	0.82	5.3196	0.6257	0.00786	0.1975:0.1996:0.2318:0.3711	.	628;628;628	B7Z7X1;Q70EL1-6;Q70EL1	.;.;UBP54_HUMAN	L	628;628;478;628	ENSP00000345216:F628L;ENSP00000386080:F628L;ENSP00000408714:F478L	ENSP00000326547:F628L	F	-	1	0	USP54	74959622	0.000000	0.05858	0.000000	0.03702	0.299000	0.27559	-0.537000	0.06128	-1.461000	0.01909	-0.327000	0.08410	TTT		0.483	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	NM_152586		6	130	0	0	0	0	6	130				
NDST2	8509	broad.mit.edu	37	10	75567972	75567972	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr10:75567972C>T	ENST00000309979.6	-	3	731	c.175G>A	c.(175-177)Ggg>Agg	p.G59R	RP11-574K11.31_ENST00000603027.1_Missense_Mutation_p.G59R|NDST2_ENST00000299641.4_Intron|NDST2_ENST00000398701.2_5'Flank			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	59	Heparan sulfate N-deacetylase 2.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					CCAGCTGCCCCACCGCTGCTG	0.632																																						uc001jvk.2		NA																	0				ovary(1)	1						c.(175-177)GGG>AGG		heparan glucosaminyl							25.0	23.0	24.0					10																	75567972		2201	4300	6501	SO:0001583	missense	8509					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr10:75567972C>T	U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"""Sulfotransferases, membrane-bound"""	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.175G>A	10.37:g.75567972C>T	ENSP00000310657:p.Gly59Arg					NDST2_uc010qks.1_5'Flank|NDST2_uc010qkt.1_Intron|NDST2_uc009xro.2_5'Flank|NDST2_uc010qku.1_5'Flank	p.G59R	NM_003635	NP_003626	P52849	NDST2_HUMAN			3	979	-	Prostate(51;0.0112)		59			Lumenal (Potential).|Heparan sulfate N-deacetylase 2.		Q2TB32|Q59H89	Missense_Mutation	SNP	ENST00000309979.6	37	c.175G>A	CCDS7335.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.779574	0.31502	.	.	ENSG00000166507	ENST00000309979	T	0.34859	1.34	5.38	5.38	0.77491	.	0.631686	0.16204	N	0.224788	T	0.31544	0.0800	L	0.46614	1.455	0.80722	D	1	B	0.30851	0.297	B	0.31614	0.133	T	0.04825	-1.0924	10	0.17369	T	0.5	.	12.3708	0.55254	0.0:0.8302:0.1698:0.0	.	59	P52849	NDST2_HUMAN	R	59	ENSP00000310657:G59R	ENSP00000310657:G59R	G	-	1	0	NDST2	75237978	0.693000	0.27728	0.987000	0.45799	0.954000	0.61252	5.526000	0.67116	2.518000	0.84900	0.561000	0.74099	GGG		0.632	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048710.1	NM_003635		3	16	0	0	0	0	3	16				
IFIT3	3437	broad.mit.edu	37	10	91098946	91098946	+	Silent	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr10:91098946T>C	ENST00000371818.4	+	2	714	c.534T>C	c.(532-534)atT>atC	p.I178I	LIPA_ENST00000371837.1_Intron|IFIT3_ENST00000371811.4_Silent_p.I178I|LIPA_ENST00000487618.1_Intron	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	178					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						GACTGGCAATTGCGATGTACC	0.458																																						uc001kgf.2		NA																	0				central_nervous_system(1)	1						c.(532-534)ATT>ATC		interferon-induced protein with							77.0	87.0	84.0					10																	91098946		2203	4300	6503	SO:0001819	synonymous_variant	3437				type I interferon-mediated signaling pathway		protein binding	g.chr10:91098946T>C	U52513	CCDS7402.1, CCDS31241.1	10q23.31	2014-05-22	2004-07-16	2004-07-16	ENSG00000119917	ENSG00000119917		"""Tetratricopeptide (TTC) repeat domain containing"""	5411	protein-coding gene	gene with protein product		604650	"""interferon-induced protein with tetratricopeptide repeats 4"""	IFIT4		9828129, 9391139	Standard	NM_001031683		Approved	ISG60, RIG-G, CIG-49, IFI60, GARG-49, IRG2	uc001kgg.3	O14879	OTTHUMG00000018708	ENST00000371818.4:c.534T>C	10.37:g.91098946T>C						LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron|IFIT3_uc001kgg.2_Silent_p.I178I	p.I178I	NM_001549	NP_001540	O14879	IFIT3_HUMAN			2	763	+			178			TPR 4.		Q99634|Q9BSK7	Silent	SNP	ENST00000371818.4	37	c.534T>C	CCDS7402.1																																																																																				0.458	IFIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049294.1	NM_001549		15	91	0	0	0	0	15	91				
SORBS1	10580	broad.mit.edu	37	10	97174256	97174256	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr10:97174256T>A	ENST00000361941.3	-	7	831	c.805A>T	c.(805-807)Agt>Tgt	p.S269C	SORBS1_ENST00000371245.3_Missense_Mutation_p.S200C|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000371247.2_Missense_Mutation_p.S269C|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.S269C|SORBS1_ENST00000371246.2_Missense_Mutation_p.S269C|SORBS1_ENST00000354106.3_Missense_Mutation_p.S260C|SORBS1_ENST00000393949.1_Missense_Mutation_p.S260C|SORBS1_ENST00000353505.5_Missense_Mutation_p.S200C|SORBS1_ENST00000371249.2_Missense_Mutation_p.S237C|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000277982.5_Missense_Mutation_p.S269C	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CTTACGGTACTCGAAACAGCT	0.602																																						uc001kkp.2		NA																	0				breast(1)	1						c.(805-807)AGT>TGT		sorbin and SH3 domain containing 1 isoform 3							46.0	49.0	48.0					10																	97174256		2203	4298	6501	SO:0001583	missense	10580				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr10:97174256T>A	AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.805A>T	10.37:g.97174256T>A	ENSP00000355136:p.Ser269Cys					SORBS1_uc001kkl.2_5'UTR|SORBS1_uc001kkn.2_Intron|SORBS1_uc001kkm.2_Intron|SORBS1_uc001kko.2_Missense_Mutation_p.S269C|SORBS1_uc001kkq.2_Missense_Mutation_p.S200C|SORBS1_uc001kkr.2_Intron|SORBS1_uc001kks.2_Intron|SORBS1_uc001kkt.2_RNA|SORBS1_uc001kku.2_Intron|SORBS1_uc001kkv.2_Missense_Mutation_p.S237C|SORBS1_uc001kkw.2_Missense_Mutation_p.S269C|SORBS1_uc010qoe.1_Intron|SORBS1_uc010qof.1_Missense_Mutation_p.S467C|SORBS1_uc001kkx.1_Missense_Mutation_p.S237C	p.S269C	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)	7	850	-		Colorectal(252;0.0429)	269						Missense_Mutation	SNP	ENST00000361941.3	37	c.805A>T	CCDS31255.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.037611	0.75617	.	.	ENSG00000095637	ENST00000371245;ENST00000371249;ENST00000371247;ENST00000371227;ENST00000371246;ENST00000393949;ENST00000353505;ENST00000361941;ENST00000277982;ENST00000354106	T;T;T;T;T;T;T;T;T;T	0.46451	0.87;1.38;0.87;1.38;0.87;0.87;0.87;0.87;0.87;0.87	5.68	4.48	0.54585	.	0.000000	0.49916	D	0.000139	T	0.57007	0.2024	L	0.54323	1.7	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;1.0;0.998;0.993;0.993;0.996;0.998	D;D;P;P;P;P;D	0.85130	0.945;0.997;0.893;0.796;0.78;0.784;0.936	T	0.58831	-0.7567	10	0.62326	D	0.03	-8.7936	11.1222	0.48298	0.0:0.0:0.337:0.663	.	467;237;269;237;200;269;269	B7Z9B7;F2Z2S3;Q9BX66-11;Q9BX66-10;Q9BX66-3;Q9BX66;Q9BX66-2	.;.;.;.;.;SRBS1_HUMAN;.	C	200;237;269;269;269;260;200;269;269;260	ENSP00000360291:S200C;ENSP00000360295:S237C;ENSP00000360293:S269C;ENSP00000360271:S269C;ENSP00000360292:S269C;ENSP00000377521:S260C;ENSP00000343998:S200C;ENSP00000355136:S269C;ENSP00000277982:S269C;ENSP00000277984:S260C	ENSP00000277982:S269C	S	-	1	0	SORBS1	97164246	1.000000	0.71417	0.992000	0.48379	0.983000	0.72400	3.177000	0.50871	2.177000	0.69029	0.454000	0.30748	AGT		0.602	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1			8	47	0	0	0	0	8	47				
C10orf120	399814	broad.mit.edu	37	10	124459210	124459210	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr10:124459210T>C	ENST00000329446.4	-	1	128	c.97A>G	c.(97-99)Ata>Gta	p.I33V		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	33										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				GTATTAAATATTCTAACTGGC	0.433																																						uc001lgn.2		NA																	0				kidney(1)	1						c.(97-99)ATA>GTA		hypothetical protein LOC399814							142.0	127.0	132.0					10																	124459210		2203	4300	6503	SO:0001583	missense	399814							g.chr10:124459210T>C		CCDS31302.1	10q26.13	2012-06-12			ENSG00000183559	ENSG00000183559			25707	protein-coding gene	gene with protein product							Standard	NM_001010912		Approved	bA318C4.1	uc001lgn.3	Q5SQS8	OTTHUMG00000019187	ENST00000329446.4:c.97A>G	10.37:g.124459210T>C	ENSP00000331012:p.Ile33Val						p.I33V	NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN			1	129	-		all_neural(114;0.169)|Glioma(114;0.222)	33					B2RU17	Missense_Mutation	SNP	ENST00000329446.4	37	c.97A>G	CCDS31302.1	.	.	.	.	.	.	.	.	.	.	T	5.268	0.234947	0.09969	.	.	ENSG00000183559	ENST00000329446	T	0.35605	1.3	3.92	-1.25	0.09405	.	1.215100	0.05996	N	0.646908	T	0.24470	0.0593	L	0.31926	0.97	0.09310	N	1	B	0.13145	0.007	B	0.12156	0.007	T	0.23976	-1.0173	10	0.33940	T	0.23	-0.1432	4.0148	0.09639	0.0:0.3365:0.1897:0.4738	.	33	Q5SQS8	CJ120_HUMAN	V	33	ENSP00000331012:I33V	ENSP00000331012:I33V	I	-	1	0	C10orf120	124449200	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.418000	0.07080	-0.232000	0.09811	-0.274000	0.10170	ATA		0.433	C10orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050803.1	NM_001010912		15	58	0	0	0	0	15	58				
OR8H1	219469	broad.mit.edu	37	11	56057819	56057819	+	Silent	SNP	A	A	G	rs576223171		TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr11:56057819A>G	ENST00000313022.2	-	1	747	c.720T>C	c.(718-720)tgT>tgC	p.C240C		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GATGAGAGGCACAAGTAGACA	0.383													a|||	1	0.000199681	0.0	0.0	5008	,	,		20792	0.0		0.001	False		,,,				2504	0.0					uc010rje.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(718-720)TGT>TGC		olfactory receptor, family 8, subfamily H,							113.0	106.0	108.0					11																	56057819		2201	4296	6497	SO:0001819	synonymous_variant	219469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56057819A>G	AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"""GPCR / Class A : Olfactory receptors"""	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.720T>C	11.37:g.56057819A>G							p.C240C	NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN			1	720	-	Esophageal squamous(21;0.00448)		240			Helical; Name=6; (Potential).		B2RNI7|Q6IFC5	Silent	SNP	ENST00000313022.2	37	c.720T>C	CCDS31526.1																																																																																				0.383	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370019.1	NM_001005199		12	60	0	0	0	0	12	60				
OR5M8	219484	broad.mit.edu	37	11	56258800	56258800	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr11:56258800A>T	ENST00000327216.2	-	1	71	c.47T>A	c.(46-48)cTg>cAg	p.L16Q		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	16						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					GCGACTGGTCAGTCCCAGGAG	0.448																																						uc001nix.1		NA																	0				central_nervous_system(1)	1						c.(46-48)CTG>CAG		olfactory receptor, family 5, subfamily M,							73.0	78.0	76.0					11																	56258800		2201	4296	6497	SO:0001583	missense	219484				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56258800A>T	AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"""GPCR / Class A : Olfactory receptors"""	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.47T>A	11.37:g.56258800A>T	ENSP00000323354:p.Leu16Gln						p.L16Q	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN			1	47	-	Esophageal squamous(21;0.00352)		16			Extracellular (Potential).		B2RNM5|Q6IEW3|Q96RB8	Missense_Mutation	SNP	ENST00000327216.2	37	c.47T>A	CCDS31533.1	.	.	.	.	.	.	.	.	.	.	A	13.11	2.140696	0.37825	.	.	ENSG00000181371	ENST00000327216	T	0.01414	4.92	4.13	4.13	0.48395	.	0.000000	0.27105	U	0.020902	T	0.13628	0.0330	H	0.96691	3.865	0.23661	N	0.99717	D	0.89917	1.0	D	0.91635	0.999	T	0.16453	-1.0402	10	0.87932	D	0	-10.8763	11.5418	0.50672	1.0:0.0:0.0:0.0	.	16	Q8NGP6	OR5M8_HUMAN	Q	16	ENSP00000323354:L16Q	ENSP00000323354:L16Q	L	-	2	0	OR5M8	56015376	0.128000	0.22383	0.006000	0.13384	0.004000	0.04260	4.228000	0.58619	1.658000	0.50742	0.440000	0.28878	CTG		0.448	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282		17	74	0	0	0	0	17	74				
OSBP	5007	broad.mit.edu	37	11	59361545	59361545	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr11:59361545G>T	ENST00000263847.1	-	8	1974	c.1495C>A	c.(1495-1497)Ctt>Att	p.L499I	MIR3162_ENST00000581818.1_RNA	NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	499					lipid transport (GO:0006869)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	oxysterol binding (GO:0008142)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GTCTCCCCAAGCAGTGGGTTG	0.488																																						uc001noc.1		NA																	0				large_intestine(1)	1						c.(1495-1497)CTT>ATT		oxysterol binding protein							77.0	74.0	75.0					11																	59361545		2201	4295	6496	SO:0001583	missense	5007				lipid transport	Golgi membrane	oxysterol binding	g.chr11:59361545G>T	AF185696	CCDS7974.1	11q12-q13	2013-01-10			ENSG00000110048	ENSG00000110048		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8503	protein-coding gene	gene with protein product		167040					Standard	NM_002556		Approved	OSBP1	uc001noc.1	P22059	OTTHUMG00000167422	ENST00000263847.1:c.1495C>A	11.37:g.59361545G>T	ENSP00000263847:p.Leu499Ile					OSBP_uc009ymr.1_RNA	p.L499I	NM_002556	NP_002547	P22059	OSBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)	8	1975	-		all_epithelial(135;0.000236)	499					Q6P524	Missense_Mutation	SNP	ENST00000263847.1	37	c.1495C>A	CCDS7974.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.731227	0.89390	.	.	ENSG00000110048	ENST00000263847;ENST00000378235	T	0.64803	-0.12	5.91	5.91	0.95273	.	0.121832	0.56097	D	0.000023	D	0.82829	0.5122	H	0.94964	3.605	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85923	0.1447	10	0.87932	D	0	-13.1362	9.1661	0.37052	0.1542:0.0:0.8458:0.0	.	499	P22059	OSBP1_HUMAN	I	499;99	ENSP00000263847:L499I	ENSP00000263847:L499I	L	-	1	0	OSBP	59118121	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.737000	0.68606	2.813000	0.96785	0.655000	0.94253	CTT		0.488	OSBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394555.1			4	28	1	0	0.000602214	0.00145332	4	28				
ZBTB3	79842	broad.mit.edu	37	11	62521078	62521078	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr11:62521078T>A	ENST00000394807.3	-	2	334	c.209A>T	c.(208-210)cAg>cTg	p.Q70L		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	70					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(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						AAGGAAACCCTGGGACCGCTG	0.592																																						uc001nuz.2		NA																	0				breast(2)|ovary(1)	3						c.(208-210)CAG>CTG		zinc finger and BTB domain containing 3							28.0	30.0	29.0					11																	62521078		2202	4299	6501	SO:0001583	missense	79842				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:62521078T>A	AK027045	CCDS8034.1	11q12.3	2013-01-09				ENSG00000185670		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	22918	protein-coding gene	gene with protein product							Standard	NM_024784		Approved	FLJ23392	uc001nuz.3	Q9H5J0		ENST00000394807.3:c.209A>T	11.37:g.62521078T>A	ENSP00000378286:p.Gln70Leu						p.Q70L	NM_024784	NP_079060	Q9H5J0	ZBTB3_HUMAN			2	331	-			70						Missense_Mutation	SNP	ENST00000394807.3	37	c.209A>T	CCDS8034.1	.	.	.	.	.	.	.	.	.	.	T	14.40	2.524098	0.44866	.	.	ENSG00000185670	ENST00000394807;ENST00000527994	T;T	0.71341	-0.56;-0.56	5.85	5.85	0.93711	BTB/POZ (1);BTB/POZ fold (2);	0.131983	0.52532	D	0.000069	T	0.74989	0.3789	L	0.38531	1.155	0.46260	D	0.998959	D	0.61697	0.99	P	0.62491	0.903	T	0.73933	-0.3826	10	0.36615	T	0.2	.	14.2004	0.65699	0.0:0.0:0.0:1.0	.	70	Q9H5J0	ZBTB3_HUMAN	L	70;20	ENSP00000378286:Q70L;ENSP00000432731:Q20L	ENSP00000378286:Q70L	Q	-	2	0	ZBTB3	62277654	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.841000	0.48223	2.237000	0.73441	0.459000	0.35465	CAG		0.592	ZBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395342.1	NM_024784		9	30	0	0	0	0	9	30				
KDELC2	143888	broad.mit.edu	37	11	108348424	108348424	+	Silent	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr11:108348424T>C	ENST00000323468.5	-	7	1373	c.1308A>G	c.(1306-1308)gaA>gaG	p.E436E	KDELC2_ENST00000434945.2_Silent_p.E380E|KDELC2_ENST00000532730.1_5'UTR	NM_153705.4	NP_714916.3	Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	436						endoplasmic reticulum (GO:0005783)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		TCTTCTTGGCTTCTTCATCAT	0.413																																						uc001pkj.2		NA																	0				ovary(1)	1						c.(1306-1308)GAA>GAG		KDEL (Lys-Asp-Glu-Leu) containing 2 precursor							237.0	215.0	222.0					11																	108348424		1889	4122	6011	SO:0001819	synonymous_variant	143888					endoplasmic reticulum lumen		g.chr11:108348424T>C	AF533708	CCDS41711.1	11q32	2010-11-18			ENSG00000178202	ENSG00000178202			28496	protein-coding gene	gene with protein product						12975309	Standard	NM_153705		Approved	MGC33424	uc001pkj.2	Q7Z4H8	OTTHUMG00000166535	ENST00000323468.5:c.1308A>G	11.37:g.108348424T>C						KDELC2_uc001pki.2_Silent_p.E380E	p.E436E	NM_153705	NP_714916	Q7Z4H8	KDEL2_HUMAN		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)	7	1374	-		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	436					Q6UWW2|Q6ZUM9|Q8N7L8|Q8NE24	Silent	SNP	ENST00000323468.5	37	c.1308A>G	CCDS41711.1	.	.	.	.	.	.	.	.	.	.	T	7.129	0.579506	0.13686	.	.	ENSG00000178202	ENST00000530318	.	.	.	4.1	4.1	0.47936	.	.	.	.	.	T	0.59838	0.2223	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57682	-0.7769	4	.	.	.	-23.6624	9.5472	0.39288	0.0:0.085:0.0:0.915	.	.	.	.	G	89	.	.	S	-	1	0	KDELC2	107853634	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	2.294000	0.43567	2.080000	0.62538	0.379000	0.24179	AGC		0.413	KDELC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390273.1	NM_153705		17	71	0	0	0	0	17	71				
ALG9	79796	broad.mit.edu	37	11	111739396	111739396	+	3'UTR	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr11:111739396G>A	ENST00000524880.1	-	0	1326				ALG9_ENST00000527228.1_5'UTR|ALG9_ENST00000527377.1_5'Flank|ALG9_ENST00000531154.1_5'UTR|ALG9_ENST00000398006.2_5'UTR			Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052926)|dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052918)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		GCATAGGAGCGAATGGCATAT	0.433																																						uc001pmb.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(334-336)CGC>TGC		asparagine-linked glycosylation 9 protein							98.0	95.0	96.0					11																	111739396		1917	4122	6039	SO:0001624	3_prime_UTR_variant	79796				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	g.chr11:111739396G>A		CCDS41714.1, CCDS53709.1, CCDS73379.1, CCDS73380.1	11q23	2013-02-26	2013-02-26	2004-08-26	ENSG00000086848	ENSG00000086848	2.4.1.259, 2.4.1.261	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	15672	protein-coding gene	gene with protein product	"""dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"", ""dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"", ""dol-P-Man dependent alpha-1,2-mannosyltransferase"""	606941	"""disrupted in bipolar affective disorder 1"", ""asparagine-linked glycosylation 9 homolog (yeast, alpha 1,2 mannosyltransferase)"", ""asparagine-linked glycosylation 9, alpha- 1,2-mannosyltransferase homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase)"", ""asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae)"""	DIBD1		12030331, 15148656	Standard	NM_024740		Approved		uc021qql.1	Q9H6U8	OTTHUMG00000166819	ENST00000524880.1:c.*164C>T	11.37:g.111739396G>A						ALG9_uc001ply.2_5'UTR|ALG9_uc001plz.2_5'UTR|ALG9_uc010rwm.1_Missense_Mutation_p.R112C|ALG9_uc010rwn.1_Missense_Mutation_p.R66C|ALG9_uc010rwo.1_5'UTR|ALG9_uc009yyh.1_Silent_p.F30F	p.R112C	NM_001077690	NP_001071158	Q9H6U8	ALG9_HUMAN		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)	4	433	-		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	112			Lumenal (Potential).		Q6ZMD5|Q7Z4R4|Q96GS7|Q96PB9|Q9H068	Missense_Mutation	SNP	ENST00000524880.1	37	c.334C>T		.	.	.	.	.	.	.	.	.	.	G	29.7	5.029307	0.93518	.	.	ENSG00000086848	ENST00000428306	.	.	.	5.21	5.21	0.72293	.	0.050253	0.85682	D	0.000000	D	0.83603	0.5290	M	0.87971	2.92	0.80722	D	1	D;D	0.71674	0.998;0.998	P;D	0.64321	0.842;0.924	D	0.86868	0.2034	9	0.87932	D	0	-10.9573	18.735	0.91750	0.0:0.0:1.0:0.0	.	112;112	Q9H6U8-3;Q9H6U8	.;ALG9_HUMAN	C	345	.	ENSP00000387627:R345C	R	-	1	0	ALG9	111244606	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.093000	0.71422	2.433000	0.82419	0.591000	0.81541	CGC		0.433	ALG9-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000413376.1	NM_024740		8	43	0	0	0	0	8	43				
C11orf1	64776	broad.mit.edu	37	11	111753218	111753218	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr11:111753218A>G	ENST00000260276.3	+	2	509	c.172A>G	c.(172-174)Acc>Gcc	p.T58A	C11orf1_ENST00000529270.1_Missense_Mutation_p.T98A|C11orf1_ENST00000530214.1_Missense_Mutation_p.T58A|C11orf1_ENST00000528125.1_Missense_Mutation_p.T12A	NM_022761.2	NP_073598.1	Q9H5F2	CK001_HUMAN	chromosome 11 open reading frame 1	58						nucleus (GO:0005634)				kidney(2)|lung(3)	5		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281)		all cancers(92;6.28e-09)|Epithelial(105;4.11e-08)|OV - Ovarian serous cystadenocarcinoma(223;1.52e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)		ATGGCGATGCACCACTAATGA	0.468																																						uc001pmd.2		NA																	0					0						c.(172-174)ACC>GCC		hypothetical protein LOC64776							140.0	118.0	125.0					11																	111753218		2201	4297	6498	SO:0001583	missense	64776					nucleus		g.chr11:111753218A>G	AJ250229	CCDS8350.1	11q23.1	2012-05-30			ENSG00000137720	ENSG00000137720			1163	protein-coding gene	gene with protein product						10873569	Standard	NM_022761		Approved	FLJ23499	uc001pmd.3	Q9H5F2	OTTHUMG00000166884	ENST00000260276.3:c.172A>G	11.37:g.111753218A>G	ENSP00000260276:p.Thr58Ala					C11orf1_uc001pme.2_Missense_Mutation_p.T98A	p.T58A	NM_022761	NP_073598	Q9H5F2	CK001_HUMAN		all cancers(92;6.28e-09)|Epithelial(105;4.11e-08)|OV - Ovarian serous cystadenocarcinoma(223;1.52e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)	2	509	+		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281)	58					Q6I9X7|Q9NQC6	Missense_Mutation	SNP	ENST00000260276.3	37	c.172A>G	CCDS8350.1	.	.	.	.	.	.	.	.	.	.	A	16.47	3.133162	0.56828	.	.	ENSG00000137720	ENST00000528125;ENST00000260276;ENST00000530214;ENST00000530799;ENST00000529270	T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68	5.23	4.08	0.47627	.	0.448888	0.22018	N	0.065779	T	0.29620	0.0739	M	0.71581	2.175	0.27302	N	0.957549	P;B	0.38420	0.63;0.153	B;B	0.38954	0.286;0.133	T	0.16335	-1.0406	10	0.49607	T	0.09	-14.5447	9.9576	0.41678	0.8487:0.0:0.0:0.1513	.	98;58	E9PMC1;Q9H5F2	.;CK001_HUMAN	A	12;58;58;74;98	ENSP00000433224:T12A;ENSP00000260276:T58A;ENSP00000435864:T58A;ENSP00000432128:T74A;ENSP00000431180:T98A	ENSP00000260276:T58A	T	+	1	0	C11orf1	111258428	0.656000	0.27385	0.958000	0.39756	0.955000	0.61496	2.915000	0.48805	0.982000	0.38575	0.397000	0.26171	ACC		0.468	C11orf1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391650.1	NM_022761		6	40	0	0	0	0	6	40				
ZNF202	7753	broad.mit.edu	37	11	123597309	123597309	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr11:123597309T>A	ENST00000529691.1	-	7	1562	c.1343A>T	c.(1342-1344)aAg>aTg	p.K448M	ZNF202_ENST00000530393.1_Missense_Mutation_p.K448M|ZNF202_ENST00000336139.4_Missense_Mutation_p.K448M			O95125	ZN202_HUMAN	zinc finger protein 202	448					lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		CGCGTTCATCTTGTGAACCTT	0.468																																						uc001pzd.1		NA																	0				ovary(1)	1						c.(1342-1344)AAG>ATG		zinc finger protein 202							120.0	119.0	119.0					11																	123597309		2202	4299	6501	SO:0001583	missense	7753				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:123597309T>A	AF027219	CCDS8443.1	11q23.3	2013-01-09				ENSG00000166261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12994	protein-coding gene	gene with protein product		603430				9790754	Standard	XM_005271659		Approved	ZKSCAN10, ZSCAN42	uc001pzd.1	O95125		ENST00000529691.1:c.1343A>T	11.37:g.123597309T>A	ENSP00000433881:p.Lys448Met					ZNF202_uc001pzc.1_Missense_Mutation_p.K224M|ZNF202_uc001pze.1_Missense_Mutation_p.K448M|ZNF202_uc001pzf.1_Missense_Mutation_p.K448M	p.K448M	NM_003455	NP_003446	O95125	ZN202_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)	9	1743	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	448					B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Missense_Mutation	SNP	ENST00000529691.1	37	c.1343A>T	CCDS8443.1	.	.	.	.	.	.	.	.	.	.	T	9.375	1.071629	0.20147	.	.	ENSG00000166261	ENST00000336139;ENST00000530393;ENST00000529691	T;T;T	0.08282	3.11;3.11;3.11	4.41	2.02	0.26589	Zinc finger, C2H2 (1);	0.373489	0.22855	N	0.054806	T	0.04907	0.0132	L	0.33093	0.98	0.34947	D	0.750878	P	0.37864	0.61	B	0.32465	0.146	T	0.39761	-0.9598	10	0.87932	D	0	-11.0062	1.5789	0.02630	0.1724:0.0961:0.1788:0.5527	.	448	O95125	ZN202_HUMAN	M	448	ENSP00000337724:K448M;ENSP00000432504:K448M;ENSP00000433881:K448M	ENSP00000337724:K448M	K	-	2	0	ZNF202	123102519	0.962000	0.33011	0.005000	0.12908	0.016000	0.09150	1.513000	0.35823	0.294000	0.22547	0.533000	0.62120	AAG		0.468	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387419.1	NM_003455		18	78	0	0	0	0	18	78				
ZBTB44	29068	broad.mit.edu	37	11	130131282	130131282	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr11:130131282C>A	ENST00000357899.4	-	2	759	c.487G>T	c.(487-489)Gtg>Ttg	p.V163L	ZBTB44_ENST00000530205.1_Missense_Mutation_p.V163L|ZBTB44_ENST00000525842.1_Missense_Mutation_p.V163L|ZBTB44_ENST00000397753.1_Missense_Mutation_p.V163L			Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	163					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		TCTGAGGACACGGGAGAAATG	0.453																																						uc001qga.2		NA																	0				ovary(1)	1						c.(487-489)GTG>TTG		zinc finger and BTB domain containing 44							64.0	61.0	62.0					11																	130131282		1910	4126	6036	SO:0001583	missense	29068				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:130131282C>A	AK024659	CCDS44776.1, CCDS73414.1, CCDS73415.1	11q24.3	2013-01-08	2006-09-19	2006-09-19		ENSG00000196323		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	25001	protein-coding gene	gene with protein product			"""BTB (POZ) domain containing 15"""	BTBD15		11042152	Standard	NM_014155		Approved	HSPC063, ZNF851	uc001qgb.4	Q8NCP5		ENST00000357899.4:c.487G>T	11.37:g.130131282C>A	ENSP00000350574:p.Val163Leu					ZBTB44_uc001qgb.3_Missense_Mutation_p.V163L|ZBTB44_uc001qfx.2_RNA|ZBTB44_uc001qgc.1_Missense_Mutation_p.V163L|ZBTB44_uc001qfz.2_Missense_Mutation_p.V163L	p.V163L	NM_014155	NP_054874	Q8NCP5	ZBT44_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)	2	881	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	163					Q6IPT8|Q86VJ7|Q86XX5	Missense_Mutation	SNP	ENST00000357899.4	37	c.487G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.6|23.6	4.432463|4.432463	0.83776|0.83776	.|.	.|.	ENSG00000196323|ENSG00000196323	ENST00000527478|ENST00000525842;ENST00000397753;ENST00000445008;ENST00000357899;ENST00000530205;ENST00000338191	.|T;T;T;T;T	.|0.52983	.|0.64;0.64;0.64;0.64;0.64	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	.|0.057784	.|0.64402	.|D	.|0.000001	T|T	0.60183|0.60183	0.2249|0.2249	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.67145	.|0.996;0.996;0.993;0.996	.|D;D;D;D	.|0.77004	.|0.989;0.989;0.964;0.989	T|T	0.63510|0.63510	-0.6621|-0.6621	5|10	.|0.87932	.|D	.|0	.|.	19.4488|19.4488	0.94859|0.94859	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|163;163;163;163	.|Q8NCP5-4;Q8NCP5-3;Q8NCP5;Q8NCP5-2	.|.;.;ZBT44_HUMAN;.	L|L	159|163;163;163;163;163;75	.|ENSP00000433457:V163L;ENSP00000380861:V163L;ENSP00000408079:V163L;ENSP00000350574:V163L;ENSP00000434177:V163L	.|ENSP00000341618:V75L	R|V	-|-	2|1	0|0	ZBTB44|ZBTB44	129636492|129636492	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.988000|0.988000	0.76386|0.76386	7.456000|7.456000	0.80751|0.80751	2.586000|2.586000	0.87340|0.87340	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.453	ZBTB44-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000386126.1	NM_014155		8	42	1	0	5.18e-06	1.29e-05	8	42				
KDM5A	5927	broad.mit.edu	37	12	464365	464365	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr12:464365T>C	ENST00000399788.2	-	7	1191	c.829A>G	c.(829-831)Atg>Gtg	p.M277V	KDM5A_ENST00000382815.4_Missense_Mutation_p.M277V	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	277					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						CTCATTTGCATGTTAAATGCG	0.368			T	NUP98	AML																																	uc001qif.1		NA		Dom	yes		12	12p11	5927	T 	"""lysine (K)-specific demethylase 5A, JARID1A"""			L	NUP98		AML		0				skin(2)|ovary(1)	3						c.(829-831)ATG>GTG		retinoblastoma binding protein 2 isoform 1							140.0	133.0	135.0					12																	464365		1869	4104	5973	SO:0001583	missense	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:464365T>C		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.829A>G	12.37:g.464365T>C	ENSP00000382688:p.Met277Val					KDM5A_uc001qie.1_Missense_Mutation_p.M277V|KDM5A_uc010sdn.1_Missense_Mutation_p.M236V|KDM5A_uc010sdo.1_Intron	p.M277V	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN			7	1192	-			277					A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	37	c.829A>G	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	T	12.46	1.945205	0.34283	.	.	ENSG00000073614	ENST00000399787;ENST00000399788;ENST00000382815	D;D	0.84146	-1.81;-1.62	5.49	5.49	0.81192	.	0.292110	0.42548	D	0.000692	D	0.82444	0.5038	L	0.52905	1.665	0.40294	D	0.978537	B;B;P	0.35700	0.002;0.215;0.516	B;B;B	0.37888	0.002;0.062;0.26	T	0.79976	-0.1576	10	0.15066	T	0.55	-6.4604	16.0271	0.80551	0.0:0.0:0.0:1.0	.	277;277;277	F5H1F7;P29375;P29375-2	.;KDM5A_HUMAN;.	V	236;277;277	ENSP00000382688:M277V;ENSP00000372265:M277V	ENSP00000372265:M277V	M	-	1	0	KDM5A	334626	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.962000	0.76048	2.243000	0.73865	0.467000	0.42956	ATG		0.368	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		10	37	0	0	0	0	10	37				
C12orf36	283422	broad.mit.edu	37	12	13526327	13526327	+	Silent	SNP	C	C	T	rs146660868		TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr12:13526327C>T	ENST00000318426.2	-	3	445	c.228G>A	c.(226-228)gcG>gcA	p.A76A	C12orf36_ENST00000527705.2_Silent_p.A76A|C12orf36_ENST00000531049.1_5'Flank					chromosome 12 open reading frame 36											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		TGTCTACGAGCGCTCTGACTC	0.473																																						uc001rbs.1		NA																	0					0						c.(226-228)GAG>GAA		hypothetical protein LOC283422		C		0,4406		0,0,2203	86.0	87.0	86.0			2.7	0.0	12	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	no	intergenic				0,1,6502	TT,TC,CC		0.0116,0.0,0.0077			13526327	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	283422							g.chr12:13526327C>T	AK091129		12p13.1	2012-08-14			ENSG00000180861	ENSG00000180861			26598	protein-coding gene	gene with protein product							Standard	NR_036555		Approved	FLJ33810	uc001rbs.2	Q495D7	OTTHUMG00000167562	ENST00000318426.2:c.228G>A	12.37:g.13526327C>T							p.E76E	NM_182558	NP_872364				BRCA - Breast invasive adenocarcinoma(232;0.198)	3	446	-									Silent	SNP	ENST00000318426.2	37	c.228G>A																																																																																					0.473	C12orf36-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000395025.2	NM_182558		12	51	0	0	0	0	12	51				
PTPRO	5800	broad.mit.edu	37	12	15733638	15733638	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr12:15733638A>G	ENST00000281171.4	+	22	3335	c.3005A>G	c.(3004-3006)aAc>aGc	p.N1002S	PTPRO_ENST00000542557.1_Missense_Mutation_p.N163S|PTPRO_ENST00000442921.2_Missense_Mutation_p.N191S|PTPRO_ENST00000348962.2_Missense_Mutation_p.N974S|PTPRO_ENST00000445537.2_Missense_Mutation_p.N191S|PTPRO_ENST00000544244.1_Missense_Mutation_p.N163S	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1002	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CAGGGATACAACTCACCCCAG	0.438																																						uc001rcv.1		NA																	0				skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9						c.(3004-3006)AAC>AGC		receptor-type protein tyrosine phosphatase O							99.0	93.0	95.0					12																	15733638		2203	4300	6503	SO:0001583	missense	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15733638A>G	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.3005A>G	12.37:g.15733638A>G	ENSP00000281171:p.Asn1002Ser					PTPRO_uc001rcw.1_Missense_Mutation_p.N974S|PTPRO_uc001rcx.1_Missense_Mutation_p.N191S|PTPRO_uc001rcy.1_Missense_Mutation_p.N191S|PTPRO_uc001rcz.1_Missense_Mutation_p.N163S|PTPRO_uc001rda.1_Missense_Mutation_p.N163S	p.N1002S	NM_030667	NP_109592	Q16827	PTPRO_HUMAN			22	3179	+		Hepatocellular(102;0.244)	1002			Cytoplasmic (Potential).|Tyrosine-protein phosphatase.		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	c.3005A>G	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	A	13.17	2.158082	0.38119	.	.	ENSG00000151490	ENST00000281171;ENST00000348962;ENST00000442921;ENST00000542557;ENST00000445537;ENST00000544244	D;D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67;-1.67	5.71	5.71	0.89125	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.56097	D	0.000031	T	0.71451	0.3341	N	0.17631	0.505	0.48762	D	0.999707	B;B;B	0.22800	0.032;0.061;0.075	B;B;B	0.17433	0.018;0.007;0.011	T	0.69525	-0.5122	10	0.66056	D	0.02	.	10.3543	0.43954	0.9273:0.0:0.0727:0.0	.	163;974;1002	Q9UBT5;Q16827-2;Q16827	.;.;PTPRO_HUMAN	S	1002;974;191;163;191;163	ENSP00000281171:N1002S;ENSP00000343434:N974S;ENSP00000404188:N191S;ENSP00000437571:N163S;ENSP00000393449:N191S;ENSP00000439234:N163S	ENSP00000281171:N1002S	N	+	2	0	PTPRO	15624905	0.994000	0.37717	1.000000	0.80357	0.986000	0.74619	2.493000	0.45320	2.191000	0.70037	0.528000	0.53228	AAC		0.438	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			10	30	0	0	0	0	10	30				
COL2A1	1280	broad.mit.edu	37	12	48367278	48367278	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr12:48367278C>T	ENST00000380518.3	-	54	4540	c.4376G>A	c.(4375-4377)cGc>cAc	p.R1459H	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.R1390H	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1459	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GATGGGGAGGCGTGAGGTCTT	0.527																																						uc001rqu.2		NA																	0				ovary(1)|skin(1)	2						c.(4375-4377)CGC>CAC		collagen, type II, alpha 1 isoform 1 precursor	Collagenase(DB00048)						159.0	142.0	148.0					12																	48367278		2203	4300	6503	SO:0001583	missense	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48367278C>T	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.4376G>A	12.37:g.48367278C>T	ENSP00000369889:p.Arg1459His					COL2A1_uc001rqt.2_Missense_Mutation_p.R240H|COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.R1390H	p.R1459H	NM_001844	NP_001835	P02458	CO2A1_HUMAN			54	4557	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	1459			Fibrillar collagen NC1.		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	ENST00000380518.3	37	c.4376G>A	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.131024	0.77549	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	T;T	0.76060	-0.99;-0.99	4.65	4.65	0.58169	Fibrillar collagen, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.89008	0.6593	M	0.91459	3.21	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.81914	0.984;0.995	D	0.91854	0.5494	10	0.87932	D	0	.	17.4825	0.87677	0.0:1.0:0.0:0.0	.	1390;1459	P02458-1;P02458	.;CO2A1_HUMAN	H	1459;1390;1390	ENSP00000369889:R1459H;ENSP00000338213:R1390H	ENSP00000338213:R1390H	R	-	2	0	COL2A1	46653545	1.000000	0.71417	0.989000	0.46669	0.998000	0.95712	7.725000	0.84808	2.274000	0.75844	0.561000	0.74099	CGC		0.527	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		24	56	0	0	0	0	24	56				
PRPF40B	25766	broad.mit.edu	37	12	50036081	50036081	+	Missense_Mutation	SNP	C	C	T	rs374615782		TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr12:50036081C>T	ENST00000380281.1	+	19	1946	c.1882C>T	c.(1882-1884)Cgc>Tgc	p.R628C	PRPF40B_ENST00000548825.2_Missense_Mutation_p.R650C|PRPF40B_ENST00000261897.1_Missense_Mutation_p.R615C|FMNL3_ENST00000335154.5_3'UTR			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	628	FF 6.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CAGGATGCGGCGCAGGGAAGC	0.642																																						uc001rur.1		NA																	0				skin(2)|ovary(1)|pancreas(1)|kidney(1)	5						c.(1882-1884)CGC>TGC		Huntingtin interacting protein C isoform 1		C	CYS/ARG,CYS/ARG,,	1,4405	2.1+/-5.4	0,1,2202	100.0	90.0	94.0		1882,1843,,	4.6	1.0	12		94	0,8600		0,0,4300	no	missense,missense,utr-3,utr-3	PRPF40B,FMNL3	NM_001031698.1,NM_012272.1,NM_175736.4,NM_198900.2	180,180,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,,	628/872,615/859,,	50036081	1,13005	2203	4300	6503	SO:0001583	missense	25766				mRNA processing|RNA splicing	nuclear speck		g.chr12:50036081C>T	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.1882C>T	12.37:g.50036081C>T	ENSP00000369634:p.Arg628Cys					FMNL3_uc001ruv.1_3'UTR|FMNL3_uc001ruw.1_3'UTR|PRPF40B_uc001rup.1_Missense_Mutation_p.R650C|PRPF40B_uc001ruq.1_Missense_Mutation_p.R615C|PRPF40B_uc001rus.1_Missense_Mutation_p.R571C|FMNL3_uc001rut.1_3'UTR|FMNL3_uc001ruu.1_3'UTR	p.R628C	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN			19	1946	+			628					O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	ENST00000380281.1	37	c.1882C>T		.	.	.	.	.	.	.	.	.	.	C	19.01	3.743254	0.69418	2.27E-4	0.0	ENSG00000110844	ENST00000261897;ENST00000380281	T;T	0.29655	1.56;1.59	4.59	4.59	0.56863	FF domain (3);	0.202420	0.32401	N	0.006149	T	0.55033	0.1895	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74348	0.961;0.983;0.983	T	0.59783	-0.7389	10	0.87932	D	0	-8.5618	11.8696	0.52513	0.175:0.825:0.0:0.0	.	628;615;628	Q6NWY9;Q6NWY9-2;Q6NWY9-3	PR40B_HUMAN;.;.	C	615;628	ENSP00000261897:R615C;ENSP00000369634:R628C	ENSP00000261897:R615C	R	+	1	0	PRPF40B	48322348	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.453000	0.35167	2.554000	0.86153	0.655000	0.94253	CGC		0.642	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272		8	84	0	0	0	0	8	84				
KRT1	3848	broad.mit.edu	37	12	53069124	53069124	+	Silent	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr12:53069124G>A	ENST00000252244.3	-	9	1846	c.1788C>T	c.(1786-1788)ggC>ggT	p.G596G		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	596	Gly/Ser-rich.|Tail.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						cagagctgccgccgccgccgc	0.711																																						uc001sau.1		NA																	0				ovary(1)|skin(1)	2						c.(1786-1788)GGC>GGT		keratin 1							11.0	16.0	14.0					12																	53069124		1674	3506	5180	SO:0001819	synonymous_variant	3848				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	g.chr12:53069124G>A	X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1788C>T	12.37:g.53069124G>A						KRT1_uc001sav.1_Silent_p.G589G	p.G596G	NM_006121	NP_006112	P04264	K2C1_HUMAN			9	1847	-			596			Gly/Ser-rich.|Tail.		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Silent	SNP	ENST00000252244.3	37	c.1788C>T	CCDS8836.1																																																																																				0.711	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	NM_006121		9	37	0	0	0	0	9	37				
ATP5G2	517	broad.mit.edu	37	12	54063126	54063126	+	Splice_Site	SNP	C	C	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr12:54063126C>T	ENST00000549164.1	-	4	305		c.e4-1		ATP5G2_ENST00000550241.1_5'Flank|ATP5G2_ENST00000602871.1_Splice_Site|ATP5G2_ENST00000394349.3_Splice_Site|ATP5G2_ENST00000338662.5_Splice_Site			Q06055	AT5G2_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9)						ATP hydrolysis coupled proton transport (GO:0015991)|ATP synthesis coupled proton transport (GO:0015986)|response to ethanol (GO:0045471)	integral component of membrane (GO:0016021)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|lipid binding (GO:0008289)|transporter activity (GO:0005215)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						TGCTGAGGCTCTGTGAAAAAG	0.473																																						uc009znc.2		NA																	0				ovary(1)	1						c.e5-1		ATP synthase, H+ transporting, mitochondrial F0							35.0	33.0	34.0					12																	54063126		2203	4300	6503	SO:0001630	splice_region_variant	517				ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding	g.chr12:54063126C>T	X69908	CCDS8863.2, CCDS31812.1	12q13.13	2012-10-12	2010-06-11		ENSG00000135390	ENSG00000135390		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	842	protein-coding gene	gene with protein product		603193	"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9), isoform 2"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C2 (subunit 9)"""			8328972	Standard	NM_005176		Approved		uc001sec.3	Q06055	OTTHUMG00000133442	ENST00000549164.1:c.118-1G>A	12.37:g.54063126C>T						ATP5G2_uc001sec.2_Splice_Site_p.S97_splice|ATP5G2_uc001sed.2_Splice_Site_p.S56_splice	p.S40_splice	NM_001002031	NP_001002031	Q06055	AT5G2_HUMAN			5	819	-								B3KQQ6	Splice_Site	SNP	ENST00000549164.1	37	c.118_splice		.	.	.	.	.	.	.	.	.	.	C	9.678	1.148530	0.21288	.	.	ENSG00000135390	ENST00000394349;ENST00000549164;ENST00000338662	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.41143	D	0.985977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.169	0.89739	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATP5G2	52349393	0.003000	0.15002	0.973000	0.42090	0.356000	0.29392	1.621000	0.36986	2.906000	0.99361	0.655000	0.94253	.		0.473	ATP5G2-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000407403.1	NM_005176	Intron	3	22	0	0	0	0	3	22				
CFAP54	144535	broad.mit.edu	37	12	97073479	97073479	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr12:97073479T>A	ENST00000524981.4	+	40	5688	c.5665T>A	c.(5665-5667)Tca>Aca	p.S1889T				Q96N23	CL055_HUMAN		0																	CCATAACAGATCAATCCGACA	0.443																																						uc001tet.1		NA																	0				skin(6)|ovary(1)	7						c.(940-942)TCA>ACA		hypothetical protein LOC374467							157.0	151.0	153.0					12																	97073479		2203	4300	6503	SO:0001583	missense	374467							g.chr12:97073479T>A																												ENST00000524981.4:c.5665T>A	12.37:g.97073479T>A	ENSP00000431759:p.Ser1889Thr						p.S314T	NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN			7	1018	+			314						Missense_Mutation	SNP	ENST00000524981.4	37	c.940T>A		.	.	.	.	.	.	.	.	.	.	T	2.085	-0.409836	0.04799	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.27	5.27	0.74061	.	1.176350	0.06073	N	0.660398	T	0.52092	0.1713	L	0.48362	1.52	0.26933	N	0.966413	D	0.54964	0.969	P	0.53313	0.723	T	0.38457	-0.9660	9	0.49607	T	0.09	-5.8085	10.887	0.46972	0.0:0.0:0.275:0.725	.	314	Q6ZTY8	CL063_HUMAN	T	1889;314	.	ENSP00000345466:S314T	S	+	1	0	C12orf63	95597610	1.000000	0.71417	0.999000	0.59377	0.188000	0.23474	3.156000	0.50708	1.974000	0.57490	0.533000	0.62120	TCA		0.443	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			34	87	0	0	0	0	34	87				
TCTN1	79600	broad.mit.edu	37	12	111078916	111078916	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr12:111078916G>C	ENST00000551590.1	+	9	1222	c.1066G>C	c.(1066-1068)Gtc>Ctc	p.V356L	TCTN1_ENST00000377654.3_Missense_Mutation_p.V178L|HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000397659.4_Missense_Mutation_p.V356L|TCTN1_ENST00000397655.3_Missense_Mutation_p.V342L			Q2MV58	TECT1_HUMAN	tectonic family member 1	356					central nervous system interneuron axonogenesis (GO:0021956)|cilium morphogenesis (GO:0060271)|dorsal/ventral neural tube patterning (GO:0021904)|in utero embryonic development (GO:0001701)|neural tube formation (GO:0001841)|regulation of smoothened signaling pathway (GO:0008589)|somatic motor neuron differentiation (GO:0021523)|telencephalon development (GO:0021537)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						CAGCGTAGTGGTCCCACTGCA	0.378																																						uc009zvs.2		NA																	0					0						c.(1066-1068)GTC>CTC		tectonic family member 1 isoform 2							151.0	144.0	147.0					12																	111078916		1939	4135	6074	SO:0001583	missense	79600				multicellular organismal development	extracellular region		g.chr12:111078916G>C	AK055891	CCDS41833.1, CCDS41834.1, CCDS41835.1	12q24.11	2011-09-07			ENSG00000204852	ENSG00000204852		"""Tectonic proteins"""	26113	protein-coding gene	gene with protein product		609863				16357211	Standard	NM_001082537		Approved	FLJ21127, TECT1, JBTS13	uc001trn.4	Q2MV58	OTTHUMG00000150051	ENST00000551590.1:c.1066G>C	12.37:g.111078916G>C	ENSP00000448735:p.Val356Leu					TCTN1_uc009zvr.1_RNA|TCTN1_uc001trl.2_RNA|TCTN1_uc001trm.2_Missense_Mutation_p.V296L|TCTN1_uc010syc.1_RNA|TCTN1_uc001tro.2_RNA|TCTN1_uc001trp.3_Missense_Mutation_p.V342L|TCTN1_uc001trn.3_Missense_Mutation_p.V356L|TCTN1_uc001trj.1_Missense_Mutation_p.V300L|TCTN1_uc001trk.3_RNA|HVCN1_uc001trq.1_Intron	p.V356L	NM_001082537	NP_001076006	Q2MV58	TECT1_HUMAN			9	1174	+			356					A8MX11|Q49A60|Q6P5X1|Q6UXW2|Q8NAE9|Q96N72|Q9H798	Missense_Mutation	SNP	ENST00000551590.1	37	c.1066G>C	CCDS41835.1	.	.	.	.	.	.	.	.	.	.	G	8.628	0.893086	0.17613	.	.	ENSG00000204852	ENST00000397650;ENST00000551590;ENST00000397655;ENST00000377654;ENST00000397657;ENST00000397659;ENST00000397652	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	5.87	-6.64	0.01801	Domain of unknown function DUF1619 (1);	1.369230	0.04325	N	0.351378	T	0.66167	0.2762	N	0.21282	0.65	0.09310	N	1	B;B;B;B;B	0.09022	0.001;0.002;0.002;0.001;0.001	B;B;B;B;B	0.12156	0.007;0.004;0.003;0.005;0.003	T	0.50541	-0.8816	10	0.22706	T	0.39	-9.5543	4.3618	0.11206	0.3134:0.2941:0.3211:0.0714	.	356;342;356;296;300	Q2MV58;Q2MV58-3;Q2MV58-2;C9J1H5;C9J1H4	TECT1_HUMAN;.;.;.;.	L	296;356;342;178;178;356;300	ENSP00000448735:V356L;ENSP00000380775:V342L;ENSP00000366882:V178L;ENSP00000380779:V356L	ENSP00000366882:V178L	V	+	1	0	TCTN1	109563299	0.000000	0.05858	0.000000	0.03702	0.101000	0.19017	-1.487000	0.02310	-1.091000	0.03065	-0.175000	0.13238	GTC		0.378	TCTN1-001	KNOWN	non_canonical_TEC|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316016.2	NM_024549		16	56	0	0	0	0	16	56				
TAOK3	51347	broad.mit.edu	37	12	118610455	118610455	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr12:118610455T>C	ENST00000392533.3	-	17	2196	c.1706A>G	c.(1705-1707)gAg>gGg	p.E569G	TAOK3_ENST00000537952.1_Missense_Mutation_p.E109G|TAOK3_ENST00000419821.2_Missense_Mutation_p.E569G	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	569					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCTATGGTCCTCATTCATTTC	0.418																																						uc001twx.2		NA																	0				lung(5)|central_nervous_system(1)	6						c.(1705-1707)GAG>GGG		TAO kinase 3							223.0	220.0	221.0					12																	118610455		2203	4300	6503	SO:0001583	missense	51347				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:118610455T>C	AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.1706A>G	12.37:g.118610455T>C	ENSP00000376317:p.Glu569Gly					TAOK3_uc001twv.2_Missense_Mutation_p.E109G|TAOK3_uc001tww.2_Missense_Mutation_p.E399G|TAOK3_uc001twy.3_Missense_Mutation_p.E569G	p.E569G	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN			17	2001	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		569			Potential.		Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Missense_Mutation	SNP	ENST00000392533.3	37	c.1706A>G	CCDS9188.1	.	.	.	.	.	.	.	.	.	.	t	18.96	3.733381	0.69189	.	.	ENSG00000135090	ENST00000419821;ENST00000392533;ENST00000537952;ENST00000359811	T;T;T	0.51574	0.7;0.7;0.7	4.48	4.48	0.54585	.	0.198794	0.41500	D	0.000872	T	0.56746	0.2006	M	0.76574	2.34	0.80722	D	1	P	0.36712	0.566	P	0.44477	0.451	T	0.63341	-0.6659	10	0.62326	D	0.03	.	14.2298	0.65885	0.0:0.0:0.0:1.0	.	569	Q9H2K8	TAOK3_HUMAN	G	569;569;109;189	ENSP00000416374:E569G;ENSP00000376317:E569G;ENSP00000443834:E109G	ENSP00000352863:E189G	E	-	2	0	TAOK3	117094838	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.822000	0.86651	2.019000	0.59389	0.529000	0.55759	GAG		0.418	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401456.2	NM_016281		3	138	0	0	0	0	3	138				
DDX55	57696	broad.mit.edu	37	12	124099831	124099831	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr12:124099831T>A	ENST00000238146.4	+	9	974	c.924T>A	c.(922-924)aaT>aaA	p.N308K	DDX55_ENST00000541259.1_3'UTR|DDX55_ENST00000538744.1_Missense_Mutation_p.N308K|DDX55_ENST00000421670.3_5'Flank|SNORA9_ENST00000384170.1_RNA	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	308	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					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)		ATAAACGCAATAAGATCTTCA	0.493																																						uc001ufi.2		NA																	0				ovary(1)	1						c.(922-924)AAT>AAA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 55							133.0	121.0	125.0					12																	124099831		2203	4300	6503	SO:0001583	missense	57696						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr12:124099831T>A	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.924T>A	12.37:g.124099831T>A	ENSP00000238146:p.Asn308Lys					DDX55_uc001ufh.2_Missense_Mutation_p.N161K|DDX55_uc001ufj.1_Missense_Mutation_p.N161K|DDX55_uc001ufk.2_Missense_Mutation_p.N161K	p.N308K	NM_020936	NP_065987	Q8NHQ9	DDX55_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)	9	948	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		308			Helicase C-terminal.		Q658L6|Q8IYH0|Q9HCH7	Missense_Mutation	SNP	ENST00000238146.4	37	c.924T>A	CCDS9251.1	.	.	.	.	.	.	.	.	.	.	T	12.63	1.996478	0.35226	.	.	ENSG00000111364	ENST00000238146;ENST00000538449;ENST00000538744	T;D	0.92149	-0.85;-2.98	5.75	-3.81	0.04294	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.78710	0.4326	N	0.05487	-0.04	0.80722	D	1	B;B;B	0.32526	0.0;0.004;0.374	B;B;B	0.29267	0.016;0.016;0.1	T	0.63102	-0.6712	10	0.20046	T	0.44	-19.4535	14.3021	0.66359	0.0:0.4466:0.0:0.5534	.	308;308;308	B4DVE4;Q8NHQ9;F5H5U2	.;DDX55_HUMAN;.	K	308	ENSP00000238146:N308K;ENSP00000443114:N308K	ENSP00000238146:N308K	N	+	3	2	DDX55	122665784	0.896000	0.30565	0.961000	0.40146	0.909000	0.53808	0.052000	0.14163	-0.577000	0.05967	0.533000	0.62120	AAT		0.493	DDX55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400616.2			9	48	0	0	0	0	9	48				
TMEM132D	121256	broad.mit.edu	37	12	129559121	129559121	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr12:129559121C>T	ENST00000422113.2	-	9	2925	c.2599G>A	c.(2599-2601)Ggc>Agc	p.G867S	TMEM132D_ENST00000389441.4_Missense_Mutation_p.G405S	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	867					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CTTTCCTGGCCTTTCTTCTTC	0.567																																						uc009zyl.1		NA																	0				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(2599-2601)GGC>AGC		transmembrane protein 132D precursor							89.0	89.0	89.0					12																	129559121		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129559121C>T	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2599G>A	12.37:g.129559121C>T	ENSP00000408581:p.Gly867Ser					TMEM132D_uc001uia.2_Missense_Mutation_p.G405S	p.G867S	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	9	2927	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	867			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.2599G>A	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	C	1.144	-0.648522	0.03506	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.09911	2.93;3.72	4.2	2.3	0.28687	.	26.009600	0.00397	N	0.000057	T	0.14917	0.0360	L	0.54323	1.7	0.09310	N	0.999999	B;B	0.25441	0.126;0.016	B;B	0.23275	0.045;0.015	T	0.36768	-0.9734	9	.	.	.	-22.4472	10.7586	0.46251	0.0:0.8315:0.0:0.1685	.	867;405	Q14C87;Q14C87-2	T132D_HUMAN;.	S	405;867	ENSP00000374092:G405S;ENSP00000408581:G867S	.	G	-	1	0	TMEM132D	128125074	0.014000	0.17966	0.055000	0.19348	0.127000	0.20565	1.548000	0.36201	0.873000	0.35799	0.462000	0.41574	GGC		0.567	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		6	55	0	0	0	0	6	55				
GPR133	283383	broad.mit.edu	37	12	131593399	131593399	+	Missense_Mutation	SNP	G	G	A	rs141128784		TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr12:131593399G>A	ENST00000261654.5	+	18	2577	c.2018G>A	c.(2017-2019)cGt>cAt	p.R673H	GPR133_ENST00000376682.4_Missense_Mutation_p.R359H|GPR133_ENST00000535015.1_Missense_Mutation_p.R705H|GPR133_ENST00000543617.1_Missense_Mutation_p.R192H	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	673					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)	p.R673H(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		AGCAAGCACCGTTACTACTat	0.607													g|||	1	0.000199681	0.0008	0.0	5008	,	,		11651	0.0		0.0	False		,,,				2504	0.0					uc001uit.3		NA																	1	Substitution - Missense(1)		prostate(1)	pancreas(5)|ovary(3)|skin(2)	10						c.(2017-2019)CGT>CAT		G protein-coupled receptor 133 precursor		A	HIS/ARG	4,4402	8.1+/-20.4	0,4,2199	114.0	105.0	108.0		2018	-5.2	0.3	12	dbSNP_134	108	0,8600		0,0,4300	no	missense	GPR133	NM_198827.3	29	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	benign	673/875	131593399	4,13002	2203	4300	6503	SO:0001583	missense	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131593399G>A	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.2018G>A	12.37:g.131593399G>A	ENSP00000261654:p.Arg673His					GPR133_uc010tbm.1_Missense_Mutation_p.R705H|GPR133_uc009zyo.2_Intron|GPR133_uc001uiv.1_Missense_Mutation_p.R192H|GPR133_uc009zyp.2_RNA	p.R673H	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	18	2577	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		673			Cytoplasmic (Potential).		B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	c.2018G>A	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	g	13.48	2.250340	0.39797	9.08E-4	0.0	ENSG00000111452	ENST00000261654;ENST00000535015;ENST00000376682;ENST00000543617	T;T;T;T	0.42513	1.18;1.21;0.97;0.97	4.78	-5.21	0.02815	GPCR, family 2-like (1);	0.429012	0.26038	N	0.026706	T	0.34629	0.0904	M	0.70842	2.15	0.20074	N	0.999931	B;B;B	0.31351	0.001;0.32;0.216	B;B;B	0.33568	0.005;0.064;0.166	T	0.21415	-1.0246	10	0.33141	T	0.24	.	8.6912	0.34267	0.2113:0.0:0.4899:0.2988	.	705;192;673	B7ZLF7;Q6QNK2-3;Q6QNK2	.;.;GP133_HUMAN	H	673;705;359;192	ENSP00000261654:R673H;ENSP00000444425:R705H;ENSP00000365872:R359H;ENSP00000438021:R192H	ENSP00000261654:R673H	R	+	2	0	GPR133	130159352	0.869000	0.29996	0.336000	0.25522	0.819000	0.46315	0.830000	0.27462	-1.407000	0.02043	-1.480000	0.00990	CGT		0.607	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		15	68	0	0	0	0	15	68				
SLC46A3	283537	broad.mit.edu	37	13	29287503	29287503	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr13:29287503G>A	ENST00000266943.6	-	3	743	c.374C>T	c.(373-375)gCc>gTc	p.A125V	SLC46A3_ENST00000380814.4_Missense_Mutation_p.A125V	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	125					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		GAATGGAAAGGCAAAATAGCA	0.413																																						uc001usi.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(373-375)GCC>GTC		solute carrier family 46, member 3 isoform a							74.0	68.0	70.0					13																	29287503		2203	4300	6503	SO:0001583	missense	283537				transmembrane transport	integral to membrane		g.chr13:29287503G>A		CCDS9332.1, CCDS45021.1	13q12.3	2013-05-22	2007-03-29		ENSG00000139508	ENSG00000139508		"""Solute carriers"""	27501	protein-coding gene	gene with protein product							Standard	NM_001135919		Approved	DKFZp686A1775, FLJ42613	uc001usj.3	Q7Z3Q1	OTTHUMG00000016650	ENST00000266943.6:c.374C>T	13.37:g.29287503G>A	ENSP00000266943:p.Ala125Val					SLC46A3_uc001usg.2_Missense_Mutation_p.A50V|SLC46A3_uc001usj.2_Missense_Mutation_p.A125V|SLC46A3_uc001ush.2_Missense_Mutation_p.A125V|SLC46A3_uc001usk.2_Missense_Mutation_p.A50V	p.A125V	NM_181785	NP_861450	Q7Z3Q1	S46A3_HUMAN		all cancers(112;0.159)	2	1344	-		Lung SC(185;0.0367)	125			Extracellular (Potential).		Q3ZCV8|Q6NUK5|Q6P9B3|Q6ZVG5|Q96QA1	Missense_Mutation	SNP	ENST00000266943.6	37	c.374C>T	CCDS9332.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.005123	0.35415	.	.	ENSG00000139508	ENST00000266943;ENST00000380814	T;T	0.60672	0.17;0.17	6.17	3.33	0.38152	Major facilitator superfamily domain, general substrate transporter (1);	0.447481	0.26560	N	0.023698	T	0.44180	0.1281	L	0.44542	1.39	0.09310	N	1	P;B;B	0.34864	0.473;0.065;0.08	B;B;B	0.34991	0.193;0.022;0.037	T	0.26916	-1.0089	10	0.31617	T	0.26	-8.4925	6.5255	0.22299	0.0647:0.1115:0.5826:0.2413	.	50;125;125	B5MEH0;Q7Z3Q1-2;Q7Z3Q1	.;.;S46A3_HUMAN	V	125	ENSP00000266943:A125V;ENSP00000370192:A125V	ENSP00000266943:A125V	A	-	2	0	SLC46A3	28185503	0.981000	0.34729	0.231000	0.23993	0.833000	0.47200	2.994000	0.49433	1.564000	0.49628	0.655000	0.94253	GCC		0.413	SLC46A3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276111.1	NM_181785		6	22	0	0	0	0	6	22				
NBEA	26960	broad.mit.edu	37	13	35770345	35770345	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr13:35770345G>A	ENST00000400445.3	+	31	5806	c.5272G>A	c.(5272-5274)Gca>Aca	p.A1758T	NBEA_ENST00000379939.2_Missense_Mutation_p.A1755T|NBEA_ENST00000310336.4_Missense_Mutation_p.A1758T|NBEA_ENST00000540320.1_Missense_Mutation_p.A1758T	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1758					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AGTTGAAATAGCAGAATGTGG	0.428																																						uc001uvb.2		NA																	0				ovary(9)|large_intestine(2)	11						c.(5272-5274)GCA>ACA		neurobeachin							66.0	66.0	66.0					13																	35770345		1886	4130	6016	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35770345G>A	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.5272G>A	13.37:g.35770345G>A	ENSP00000383295:p.Ala1758Thr					NBEA_uc010abi.2_Missense_Mutation_p.A414T	p.A1758T	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	31	5478	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	1758					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.5272G>A	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	G	7.896	0.733346	0.15574	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	5.82	2.65	0.31530	.	0.530204	0.21184	N	0.078767	T	0.24967	0.0606	N	0.12182	0.205	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.001;0.003	T	0.05099	-1.0906	10	0.16896	T	0.51	.	8.6742	0.34170	0.1773:0.1328:0.6899:0.0	.	1758;1755	Q8NFP9;Q5T321	NBEA_HUMAN;.	T	1758;1758;1755;1758;385	ENSP00000440951:A1758T;ENSP00000383295:A1758T;ENSP00000369271:A1755T;ENSP00000308534:A1758T	ENSP00000308534:A1758T	A	+	1	0	NBEA	34668345	0.823000	0.29233	0.983000	0.44433	0.950000	0.60333	1.150000	0.31639	1.221000	0.43506	0.585000	0.79938	GCA		0.428	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		12	44	0	0	0	0	12	44				
FOXO1	2308	broad.mit.edu	37	13	41133857	41133857	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr13:41133857C>T	ENST00000379561.5	-	2	2155	c.1771G>A	c.(1771-1773)Ggc>Agc	p.G591S	FOXO1_ENST00000473775.1_5'Flank	NM_002015.3	NP_002006.2	Q12778	FOXO1_HUMAN	forkhead box O1	591					apoptotic process (GO:0006915)|autophagy (GO:0006914)|blood vessel development (GO:0001568)|cellular glucose homeostasis (GO:0001678)|cellular response to cold (GO:0070417)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hyperoxia (GO:0071455)|cellular response to insulin stimulus (GO:0032869)|cellular response to nitric oxide (GO:0071732)|cellular response to oxidative stress (GO:0034599)|cellular response to starvation (GO:0009267)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|regulation of cell proliferation (GO:0042127)|regulation of energy homeostasis (GO:2000505)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|protein phosphatase 2A binding (GO:0051721)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)		PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		TGGAGAAGGCCCATTCTGCCA	0.547																																						uc001uxl.3		NA																PAX3/FOXO1(749)|PAX7/FOXO1(197)	0				soft_tissue(946)|lung(1)|central_nervous_system(1)	948						c.(1771-1773)GGC>AGC		forkhead box O1							88.0	83.0	85.0					13																	41133857		2203	4300	6503	SO:0001583	missense	2308				anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr13:41133857C>T		CCDS9371.1	13q14.1	2011-08-01	2007-05-02	2007-05-02	ENSG00000150907	ENSG00000150907		"""Forkhead boxes"""	3819	protein-coding gene	gene with protein product		136533	"""forkhead homolog in rhabdomyosarcoma"""	FKHR, FOXO1A		8275086, 15057823	Standard	NM_002015		Approved	FKH1	uc001uxl.4	Q12778	OTTHUMG00000016775	ENST00000379561.5:c.1771G>A	13.37:g.41133857C>T	ENSP00000368880:p.Gly591Ser					FOXO1_uc010acc.1_Missense_Mutation_p.G406S	p.G591S	NM_002015	NP_002006	Q12778	FOXO1_HUMAN		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)	2	2156	-		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)	591					O43523|Q5VYC7|Q6NSK6	Missense_Mutation	SNP	ENST00000379561.5	37	c.1771G>A	CCDS9371.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.024055	0.54683	.	.	ENSG00000150907	ENST00000379561	D	0.93953	-3.32	5.35	3.63	0.41609	.	0.226724	0.46758	D	0.000276	D	0.92509	0.7621	M	0.79475	2.455	0.40950	D	0.984531	D	0.53151	0.958	P	0.46825	0.528	D	0.89941	0.4073	10	0.11485	T	0.65	-24.7484	11.6712	0.51401	0.0:0.8554:0.0:0.1446	.	591	Q12778	FOXO1_HUMAN	S	591	ENSP00000368880:G591S	ENSP00000368880:G591S	G	-	1	0	FOXO1	40031857	1.000000	0.71417	0.947000	0.38551	0.926000	0.56050	4.652000	0.61454	0.763000	0.33175	-0.123000	0.14984	GGC		0.547	FOXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044634.3	NM_002015		22	71	0	0	0	0	22	71				
DIS3	22894	broad.mit.edu	37	13	73337680	73337680	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr13:73337680T>G	ENST00000377767.4	-	16	2136	c.2036A>C	c.(2035-2037)cAt>cCt	p.H679P	DIS3_ENST00000545453.1_Missense_Mutation_p.H517P|DIS3_ENST00000377780.4_Missense_Mutation_p.H649P	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	679					CUT catabolic process (GO:0071034)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		AAATTCCTCATGAATTTTTTT	0.368										Multiple Myeloma(4;0.011)																												uc001vix.3		NA																	0				central_nervous_system(1)	1						c.(2035-2037)CAT>CCT		DIS3 mitotic control isoform a							65.0	67.0	66.0					13																	73337680		2202	4300	6502	SO:0001583	missense	22894				CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding	g.chr13:73337680T>G	AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"""exosome component 11"""	607533	"""KIAA1008"", ""DIS3 mitotic control homolog (S. cerevisiae)"""	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.2036A>C	13.37:g.73337680T>G	ENSP00000366997:p.His679Pro	Multiple Myeloma(4;0.011)				DIS3_uc001viy.3_Missense_Mutation_p.H649P|DIS3_uc001viz.2_RNA	p.H679P	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN		GBM - Glioblastoma multiforme(99;0.000181)	16	2410	-		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)	679					A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Missense_Mutation	SNP	ENST00000377767.4	37	c.2036A>C	CCDS9447.1	.	.	.	.	.	.	.	.	.	.	T	15.80	2.940300	0.52972	.	.	ENSG00000083520	ENST00000377767;ENST00000377780;ENST00000545453	T;T;T	0.35973	1.28;1.28;1.28	5.74	5.74	0.90152	Ribonuclease II/R (2);	0.106801	0.64402	D	0.000003	T	0.48607	0.1509	M	0.77712	2.385	0.36996	D	0.895015	B;B	0.32800	0.385;0.355	B;B	0.40038	0.225;0.317	T	0.57318	-0.7832	10	0.48119	T	0.1	.	16.0499	0.80749	0.0:0.0:0.0:1.0	.	649;679	Q9Y2L1-2;Q9Y2L1	.;RRP44_HUMAN	P	679;649;517	ENSP00000366997:H679P;ENSP00000367011:H649P;ENSP00000440058:H517P	ENSP00000366997:H679P	H	-	2	0	DIS3	72235681	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	4.952000	0.63618	2.193000	0.70182	0.533000	0.62120	CAT		0.368	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045250.2	NM_014953		6	32	0	0	0	0	6	32				
TEP1	7011	broad.mit.edu	37	14	20845894	20845894	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr14:20845894A>T	ENST00000262715.5	-	40	5780	c.5740T>A	c.(5740-5742)Tct>Act	p.S1914T	TEP1_ENST00000556935.1_Missense_Mutation_p.S1806T|TEP1_ENST00000545983.1_Missense_Mutation_p.S252T	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1914					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CGACCCAGAGACCCTGACCAC	0.587																																						uc001vxe.2		NA																	0				ovary(5)	5						c.(5740-5742)TCT>ACT		telomerase-associated protein 1							39.0	47.0	45.0					14																	20845894		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20845894A>T		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.5740T>A	14.37:g.20845894A>T	ENSP00000262715:p.Ser1914Thr					TEP1_uc010ahk.2_Missense_Mutation_p.S1257T|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.S1806T|TEP1_uc010tlh.1_Missense_Mutation_p.S252T	p.S1914T	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	40	5780	-	all_cancers(95;0.00123)	all_lung(585;0.235)	1914			WD 7.		A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.5740T>A	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	A	11.88	1.770696	0.31320	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000545983	T;T;T	0.70986	0.67;-0.53;0.45	5.22	4.05	0.47172	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.291814	0.31472	N	0.007585	T	0.59046	0.2165	L	0.51422	1.61	0.21967	N	0.999447	B;P;P;B	0.46142	0.03;0.557;0.873;0.421	B;B;B;B	0.42361	0.014;0.167;0.385;0.08	T	0.48692	-0.9013	10	0.13470	T	0.59	-1.5246	5.489	0.16765	0.7337:0.177:0.0893:0.0	.	252;1806;1257;1914	B4E0B6;G3V5X7;G3V2A4;Q99973	.;.;.;TEP1_HUMAN	T	1914;1914;1806;252	ENSP00000262715:S1914T;ENSP00000452574:S1806T;ENSP00000438849:S252T	ENSP00000262715:S1914T	S	-	1	0	TEP1	19915734	0.965000	0.33210	0.901000	0.35422	0.788000	0.44548	2.207000	0.42788	0.810000	0.34279	0.460000	0.39030	TCT		0.587	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		12	46	0	0	0	0	12	46				
PCNXL4	64430	broad.mit.edu	37	14	60582438	60582438	+	Splice_Site	SNP	A	A	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr14:60582438A>G	ENST00000406854.1	+	5	1913	c.1359A>G	c.(1357-1359)gtA>gtG	p.V453V	PCNXL4_ENST00000404681.2_Splice_Site_p.V453V|PCNXL4_ENST00000535349.1_5'Flank|PCNXL4_ENST00000317623.4_Splice_Site_p.V219V|PCNXL4_ENST00000406949.1_Splice_Site_p.V219V			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	453						integral component of membrane (GO:0016021)											TTGTTTTAGTATCACCTTTTG	0.343																																						uc001xer.3		NA																	0				ovary(2)	2						c.(655-657)GTA>GTG		hepatitis C virus F protein-binding protein 2							104.0	87.0	93.0					14																	60582438		1820	4081	5901	SO:0001630	splice_region_variant	64430					integral to membrane		g.chr14:60582438A>G	AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 135"""	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.1358-1A>G	14.37:g.60582438A>G						C14orf135_uc001xeq.2_Silent_p.V219V|C14orf135_uc010apm.2_5'Flank	p.V219V	NM_022495	NP_071940	Q63HM2	CN135_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.127)	4	1179	+		Myeloproliferative disorder(585;0.163)	453			Helical; (Potential).		A8MXM2|Q9BQG8|Q9H9F2	Silent	SNP	ENST00000406854.1	37	c.657A>G																																																																																					0.343	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1	NM_022495	Silent	9	14	0	0	0	0	9	14				
SERPINA4	5267	broad.mit.edu	37	14	95033317	95033317	+	Silent	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr14:95033317G>A	ENST00000557004.1	+	3	1081	c.660G>A	c.(658-660)gaG>gaA	p.E220E	SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Silent_p.E220E|SERPINA4_ENST00000298841.5_Silent_p.E220E			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	220					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CCCTGTGGGAGAAACCATTCA	0.517																																						uc001ydk.2		NA																	0				ovary(3)|skin(1)	4						c.(658-660)GAG>GAA		serine (or cysteine) proteinase inhibitor, clade							106.0	103.0	104.0					14																	95033317		2203	4300	6503	SO:0001819	synonymous_variant	5267				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chr14:95033317G>A	L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"""Serine (or cysteine) peptidase inhibitors"""	8948	protein-coding gene	gene with protein product		147935	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"""	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.660G>A	14.37:g.95033317G>A						SERPINA4_uc010avd.2_Silent_p.E257E|SERPINA4_uc001ydl.2_Silent_p.E220E	p.E220E	NM_006215	NP_006206	P29622	KAIN_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	3	726	+			220					Q53XB5|Q86TR9|Q96BZ5	Silent	SNP	ENST00000557004.1	37	c.660G>A	CCDS9927.1																																																																																				0.517	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410718.1	NM_006215		16	121	0	0	0	0	16	121				
GPR132	29933	broad.mit.edu	37	14	105517549	105517549	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr14:105517549C>T	ENST00000329797.3	-	4	1836	c.925G>A	c.(925-927)Gtg>Atg	p.V309M	GPR132_ENST00000539291.2_Missense_Mutation_p.V309M|GPR132_ENST00000546679.1_5'Flank|GPR132_ENST00000392585.2_Missense_Mutation_p.V300M	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	309					G1/S transition of mitotic cell cycle (GO:0000082)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		GTGGCCAGCACGTAGATAATG	0.577																																						uc001yqd.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(925-927)GTG>ATG		G protein-coupled receptor 132							140.0	110.0	120.0					14																	105517549		2203	4300	6503	SO:0001583	missense	29933				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr14:105517549C>T	AF083955	CCDS9997.1, CCDS61567.1	14q32.3	2012-08-21			ENSG00000183484	ENSG00000183484		"""GPCR / Class A : Orphans"""	17482	protein-coding gene	gene with protein product	"""G2 accumulation"""	606167				12086852	Standard	NM_013345		Approved	G2A	uc001yqd.3	Q9UNW8	OTTHUMG00000140173	ENST00000329797.3:c.925G>A	14.37:g.105517549C>T	ENSP00000328818:p.Val309Met					GPR132_uc001yqc.2_Missense_Mutation_p.V121M|GPR132_uc001yqe.2_Missense_Mutation_p.V300M	p.V309M	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)	4	1824	-		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	309			Helical; Name=7; (Potential).		A8K7X7|B4E144|Q9BSU2	Missense_Mutation	SNP	ENST00000329797.3	37	c.925G>A	CCDS9997.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721417	0.68959	.	.	ENSG00000183484	ENST00000329797;ENST00000392585;ENST00000539291	T;T;T	0.37752	1.18;1.18;1.18	4.68	3.79	0.43588	.	0.000000	0.64402	D	0.000001	T	0.46347	0.1388	L	0.34521	1.04	0.42406	D	0.992584	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.35574	-0.9783	10	0.39692	T	0.17	.	12.1455	0.54022	0.0:0.9162:0.0:0.0838	.	300;309	B4E144;Q9UNW8	.;GP132_HUMAN	M	309;300;309	ENSP00000328818:V309M;ENSP00000376364:V300M;ENSP00000438094:V309M	ENSP00000328818:V309M	V	-	1	0	GPR132	104588594	0.981000	0.34729	1.000000	0.80357	0.896000	0.52359	1.964000	0.40462	1.094000	0.41399	-0.251000	0.11542	GTG		0.577	GPR132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409278.1	NM_013345		34	34	0	0	0	0	34	34				
CAPN3	825	broad.mit.edu	37	15	42701996	42701996	+	Silent	SNP	C	C	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr15:42701996C>T	ENST00000397163.3	+	18	2223	c.2004C>T	c.(2002-2004)atC>atT	p.I668I	CAPN3_ENST00000569136.1_Silent_p.I3I|CAPN3_ENST00000356316.3_Silent_p.I575I|CAPN3_ENST00000337571.4_Silent_p.I3I|CAPN3_ENST00000397204.4_Silent_p.I3I|CAPN3_ENST00000562199.1_3'UTR|CAPN3_ENST00000357568.3_Silent_p.I662I|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000397200.4_Silent_p.I156I|CAPN3_ENST00000318023.7_Silent_p.I662I|CAPN3_ENST00000561817.1_Silent_p.I3I|CAPN3_ENST00000349748.3_Silent_p.I576I	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	668	Domain IV.|EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		ACATGGAGATCTGTGCAGATG	0.542																																						uc001zpn.1		NA																	0				central_nervous_system(1)	1						c.(2002-2004)ATC>ATT		calpain 3 isoform a							149.0	142.0	145.0					15																	42701996		2203	4299	6502	SO:0001819	synonymous_variant	825				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	g.chr15:42701996C>T	X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.2004C>T	15.37:g.42701996C>T						CAPN3_uc001zpk.1_Silent_p.I435I|CAPN3_uc001zpl.1_Silent_p.I575I|CAPN3_uc010udf.1_Silent_p.I581I|CAPN3_uc010udg.1_Silent_p.I533I|CAPN3_uc001zpo.1_Silent_p.I662I|CAPN3_uc001zpp.1_Silent_p.I576I|CAPN3_uc001zpq.1_Silent_p.I156I|CAPN3_uc010bcv.1_Silent_p.I3I|CAPN3_uc001zpr.1_Silent_p.I3I|CAPN3_uc001zps.1_Silent_p.I3I|CAPN3_uc001zpt.1_Silent_p.I3I	p.I668I	NM_000070	NP_000061	P20807	CAN3_HUMAN		GBM - Glioblastoma multiforme(94;7.36e-07)	18	2310	+		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	668			EF-hand 1.|Domain IV.		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Silent	SNP	ENST00000397163.3	37	c.2004C>T	CCDS45245.1																																																																																				0.542	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			29	111	0	0	0	0	29	111				
DPP8	54878	broad.mit.edu	37	15	65759441	65759441	+	Missense_Mutation	SNP	G	G	A	rs370549371		TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr15:65759441G>A	ENST00000341861.5	-	13	3285	c.1705C>T	c.(1705-1707)Cgt>Tgt	p.R569C	DPP8_ENST00000321147.6_Missense_Mutation_p.R569C|DPP8_ENST00000358939.4_Missense_Mutation_p.R553C|DPP8_ENST00000559233.1_Missense_Mutation_p.R569C|DPP8_ENST00000300141.6_Missense_Mutation_p.R553C|DPP8_ENST00000339244.5_Missense_Mutation_p.R396C|DPP8_ENST00000321118.7_Missense_Mutation_p.R569C	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	569					immune response (GO:0006955)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GAGTAGCCACGGTCAGTCAGC	0.413													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19026	0.0		0.0	False		,,,				2504	0.0					uc002aov.2		NA																	0				ovary(1)	1						c.(1705-1707)CGT>TGT		dipeptidyl peptidase 8 isoform 1							112.0	99.0	103.0					15																	65759441		2201	4299	6500	SO:0001583	missense	54878				immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr15:65759441G>A	AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603			16490	protein-coding gene	gene with protein product	"""dipeptidyl peptidase VIII"", ""dipeptidyl peptidase IV-related protein-1"", ""prolyl dipeptidase DPP8"""	606819	"""dipeptidylpeptidase 8"""			11012666	Standard	XM_005254500		Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.1705C>T	15.37:g.65759441G>A	ENSP00000339208:p.Arg569Cys					DPP8_uc002aow.2_Missense_Mutation_p.R569C|DPP8_uc010uiv.1_RNA|DPP8_uc002aox.2_Missense_Mutation_p.R553C|DPP8_uc002aoy.2_Missense_Mutation_p.R569C|DPP8_uc002aoz.2_Missense_Mutation_p.R553C|DPP8_uc010bhj.2_Missense_Mutation_p.R569C|DPP8_uc002apa.2_Missense_Mutation_p.R466C|DPP8_uc010bhi.2_5'UTR|DPP8_uc010bhk.1_Missense_Mutation_p.R138C	p.R569C	NM_130434	NP_569118	Q6V1X1	DPP8_HUMAN			13	3283	-			569					Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Missense_Mutation	SNP	ENST00000341861.5	37	c.1705C>T	CCDS10207.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.954653	0.92726	.	.	ENSG00000074603	ENST00000341861;ENST00000358939;ENST00000300141;ENST00000321147;ENST00000321118;ENST00000339244;ENST00000395652	T;T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46;1.46	5.67	4.7	0.59300	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.080055	0.50627	D	0.000102	T	0.45418	0.1341	L	0.40543	1.245	0.58432	D	0.999999	D;D;D;D;D	0.67145	0.996;0.987;0.996;0.987;0.99	D;P;P;P;P	0.67725	0.953;0.707;0.648;0.781;0.86	T	0.38156	-0.9674	10	0.66056	D	0.02	-21.1151	15.4298	0.75084	0.0:0.0:0.8604:0.1396	.	396;553;553;569;569	C9JSG1;Q6V1X1-3;Q6V1X1-4;Q6V1X1-2;Q6V1X1	.;.;.;.;DPP8_HUMAN	C	569;553;553;569;569;396;569	ENSP00000339208:R569C;ENSP00000351817:R553C;ENSP00000300141:R553C;ENSP00000318111:R569C;ENSP00000316373:R569C;ENSP00000341230:R396C;ENSP00000379013:R569C	ENSP00000300141:R553C	R	-	1	0	DPP8	63546494	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.686000	0.84128	2.673000	0.90976	0.467000	0.42956	CGT		0.413	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256847.1	NM_017743		5	34	0	0	0	0	5	34				
ACSBG1	23205	broad.mit.edu	37	15	78474320	78474320	+	Silent	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr15:78474320G>A	ENST00000258873.4	-	8	1267	c.1062C>T	c.(1060-1062)gaC>gaT	p.D354D	ACSBG1_ENST00000560817.1_Silent_p.D112D|ACSBG1_ENST00000541759.1_Silent_p.D112D	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	354					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CCTTCAGGGCGTCGGGTTCGG	0.607																																						uc002bdh.2		NA																	0				ovary(1)	1						c.(1060-1062)GAC>GAT		lipidosin							94.0	74.0	80.0					15																	78474320		2196	4293	6489	SO:0001819	synonymous_variant	23205				long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity	g.chr15:78474320G>A	AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"""Acyl-CoA synthetase family"""	29567	protein-coding gene	gene with protein product	"""bubblegum"", ""very long-chain acyl-CoA synthetase"", ""lipidosin"""	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.1062C>T	15.37:g.78474320G>A						ACSBG1_uc010umw.1_Silent_p.D350D|ACSBG1_uc010umx.1_Silent_p.D112D|ACSBG1_uc010umy.1_Silent_p.D247D	p.D354D	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN			8	1118	-			354					B2RB61|O75126|Q76N27|Q9HC26	Silent	SNP	ENST00000258873.4	37	c.1062C>T	CCDS10298.1																																																																																				0.607	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162		22	33	0	0	0	0	22	33				
HPR	3250	broad.mit.edu	37	16	72110789	72110789	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr16:72110789T>C	ENST00000540303.2	+	5	888	c.856T>C	c.(856-858)Tct>Cct	p.S286P	HPR_ENST00000228226.8_Missense_Mutation_p.S323P|HPR_ENST00000561690.1_Intron|HPR_ENST00000356967.5_Missense_Mutation_p.S286P	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	286	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|spherical high-density lipoprotein particle (GO:0034366)	hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				TGTCGGCATGTCTAAGTACCA	0.567																																						uc002fby.2		NA																	0				central_nervous_system(1)	1						c.(856-858)TCT>CCT		haptoglobin-related protein precursor							207.0	139.0	161.0					16																	72110789		2073	4196	6269	SO:0001583	missense	3250				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity	g.chr16:72110789T>C	BC160066	CCDS42193.1	16q22.2	2012-10-03			ENSG00000261701	ENSG00000261701			5156	protein-coding gene	gene with protein product		140210				2987228, 16778136	Standard	NM_020995		Approved		uc002fby.3	P00739	OTTHUMG00000173010	ENST00000540303.2:c.856T>C	16.37:g.72110789T>C	ENSP00000441828:p.Ser286Pro					TXNL4B_uc010cgl.2_Intron	p.S286P	NM_020995	NP_066275	P00739	HPTR_HUMAN			5	886	+		Ovarian(137;0.125)	286			Peptidase S1.		Q7LE20|Q92658|Q92659|Q9ULB0	Missense_Mutation	SNP	ENST00000540303.2	37	c.856T>C	CCDS42193.1	.	.	.	.	.	.	.	.	.	.	.	10.61	1.397786	0.25205	.	.	ENSG00000257017	ENST00000356967;ENST00000540303;ENST00000228226	D;D;D	0.88741	-2.42;-2.42;-2.42	2.64	-0.27	0.12926	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.544536	0.17687	N	0.165431	D	0.87184	0.6114	L	0.35723	1.085	0.28337	N	0.921505	D	0.53619	0.961	P	0.60886	0.88	T	0.78715	-0.2096	10	0.31617	T	0.26	.	6.5927	0.22656	0.4845:0.0:0.0:0.5155	.	286	P00739	HPTR_HUMAN	P	286;286;323	ENSP00000349451:S286P;ENSP00000441828:S286P;ENSP00000228226:S323P	ENSP00000228226:S323P	S	+	1	0	HP	70668290	0.073000	0.21202	0.913000	0.36048	0.746000	0.42486	0.171000	0.16685	0.196000	0.20367	0.338000	0.21704	TCT		0.567	HPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421696.1	NM_020995		7	87	0	0	0	0	7	87				
DNAH9	1770	broad.mit.edu	37	17	11607668	11607668	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr17:11607668A>G	ENST00000262442.4	+	25	5368	c.5300A>G	c.(5299-5301)cAg>cGg	p.Q1767R	DNAH9_ENST00000454412.2_Missense_Mutation_p.Q1767R	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1767	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTGATTGGCCAGCTCTCCAAG	0.517																																						uc002gne.2		NA																	0				skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(5299-5301)CAG>CGG		dynein, axonemal, heavy chain 9 isoform 2							101.0	95.0	97.0					17																	11607668		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11607668A>G	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.5300A>G	17.37:g.11607668A>G	ENSP00000262442:p.Gln1767Arg					DNAH9_uc010coo.2_Missense_Mutation_p.Q1061R	p.Q1767R	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	25	5368	+		Breast(5;0.0122)|all_epithelial(5;0.131)	1767			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.5300A>G	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	A	15.89	2.967472	0.53507	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.26373	1.78;1.74	5.91	2.24	0.28232	.	0.135857	0.50627	D	0.000103	T	0.21307	0.0513	L	0.38175	1.15	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.07908	-1.0748	10	0.72032	D	0.01	.	13.5224	0.61576	0.6327:0.3673:0.0:0.0	.	1767	Q9NYC9	DYH9_HUMAN	R	1767;1767;349	ENSP00000262442:Q1767R;ENSP00000414874:Q1767R	ENSP00000262442:Q1767R	Q	+	2	0	DNAH9	11548393	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.308000	0.43690	0.459000	0.27016	0.533000	0.62120	CAG		0.517	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		4	68	0	0	0	0	4	68				
SLC46A1	113235	broad.mit.edu	37	17	26731995	26731995	+	Silent	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr17:26731995G>A	ENST00000440501.1	-	2	815	c.720C>T	c.(718-720)acC>acT	p.T240T	SLC46A1_ENST00000584729.1_5'UTR|SLC46A1_ENST00000321666.5_Silent_p.T240T|CTD-2350C19.1_ENST00000583956.1_RNA|CTD-2350C19.2_ENST00000580714.1_RNA	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN	solute carrier family 46 (folate transporter), member 1	240					cellular iron ion homeostasis (GO:0006879)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|heme transporter activity (GO:0015232)|methotrexate transporter activity (GO:0015350)			lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)|Methotrexate(DB00563)|Sulfasalazine(DB00795)	TGAAGAGCCGGGTGGACTTTG	0.547																																						uc002hbf.1		NA																	0					0						c.(718-720)ACC>ACT		proton-coupled folate transporter	Folic Acid(DB00158)						119.0	125.0	123.0					17																	26731995		1937	4144	6081	SO:0001819	synonymous_variant	113235				cellular iron ion homeostasis|folic acid metabolic process	apical plasma membrane|cytoplasm|integral to membrane	folic acid binding|folic acid transporter activity|heme transporter activity	g.chr17:26731995G>A	AK054669	CCDS74019.1, CCDS74020.1	17q11.2	2014-09-17	2007-09-24			ENSG00000076351		"""Solute carriers"""	30521	protein-coding gene	gene with protein product	"""heme carrier protein 1"", ""proton-coupled folate transporter"""	611672	"""solute carrier family 46, member 1"""			16143108, 17129779	Standard	XM_005277786		Approved	HCP1, MGC9564, PCFT	uc002hbf.2	Q96NT5		ENST00000440501.1:c.720C>T	17.37:g.26731995G>A						SLC46A1_uc002hbg.1_Silent_p.T240T|SLC46A1_uc010wak.1_Silent_p.T240T	p.T240T	NM_080669	NP_542400	Q96NT5	PCFT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	2	816	-	all_lung(13;0.000533)|Lung NSC(42;0.00171)		240					Q1HE20|Q86T92|Q8TEG3|Q96FL0	Silent	SNP	ENST00000440501.1	37	c.720C>T																																																																																					0.547	SLC46A1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_080669		6	125	0	0	0	0	6	125				
COLEC12	81035	broad.mit.edu	37	18	347016	347016	+	Silent	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr18:347016G>A	ENST00000400256.3	-	5	813	c.606C>T	c.(604-606)gtC>gtT	p.V202V		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	202					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GGTTCATGATGACCACATTAT	0.507																																						uc002kkm.2		NA																	0				ovary(1)|pancreas(1)	2						c.(604-606)GTC>GTT		collectin sub-family member 12							137.0	136.0	137.0					18																	347016		2203	4300	6503	SO:0001819	synonymous_variant	81035				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity	g.chr18:347016G>A	AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.606C>T	18.37:g.347016G>A							p.V202V	NM_130386	NP_569057	Q5KU26	COL12_HUMAN			5	821	-		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)	202			Extracellular (Potential).		Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Silent	SNP	ENST00000400256.3	37	c.606C>T	CCDS32782.1																																																																																				0.507	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1			5	125	0	0	0	0	5	125				
MC5R	4161	broad.mit.edu	37	18	13826399	13826399	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr18:13826399C>T	ENST00000324750.3	+	1	857	c.635C>T	c.(634-636)gCg>gTg	p.A212V	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	212					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TTCCTCCTGGCGCGGACTCAC	0.612																																						uc010xaf.1		NA																	0				ovary(3)|lung(2)|breast(1)	6						c.(634-636)GCG>GTG		melanocortin 5 receptor							392.0	331.0	352.0					18																	13826399		2203	4300	6503	SO:0001583	missense	4161				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	g.chr18:13826399C>T	AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"""GPCR / Class A : Melanocortin receptors"""	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.635C>T	18.37:g.13826399C>T	ENSP00000318077:p.Ala212Val						p.A212V	NM_005913	NP_005904	P33032	MC5R_HUMAN			1	635	+			212			Cytoplasmic (Potential).		B0YJ34|Q502V1	Missense_Mutation	SNP	ENST00000324750.3	37	c.635C>T	CCDS11868.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.893540	0.91889	.	.	ENSG00000176136	ENST00000324750	T	0.34072	1.38	5.01	5.01	0.66863	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.59932	0.2230	M	0.69248	2.105	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64223	-0.6458	10	0.87932	D	0	.	17.287	0.87145	0.0:1.0:0.0:0.0	.	212	P33032	MC5R_HUMAN	V	212	ENSP00000318077:A212V	ENSP00000318077:A212V	A	+	2	0	MC5R	13816399	1.000000	0.71417	0.934000	0.37439	0.805000	0.45488	7.423000	0.80229	2.311000	0.77944	0.455000	0.32223	GCG		0.612	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913		23	315	0	0	0	0	23	315				
DCC	1630	broad.mit.edu	37	18	50278466	50278466	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr18:50278466A>C	ENST00000442544.2	+	2	750	c.134A>C	c.(133-135)gAa>gCa	p.E45A	DCC_ENST00000412726.1_5'Flank	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	45	Ig-like C2-type 1.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TTCCTCTCAGAACCTTCTGAT	0.483																																						uc002lfe.1		NA																	0				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(133-135)GAA>GCA		netrin receptor DCC precursor							54.0	56.0	55.0					18																	50278466		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50278466A>C	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.134A>C	18.37:g.50278466A>C	ENSP00000389140:p.Glu45Ala					DCC_uc010xdr.1_5'UTR	p.E45A	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	2	721	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	45			Extracellular (Potential).|Ig-like C2-type 1.			Missense_Mutation	SNP	ENST00000442544.2	37	c.134A>C	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	A	28.3	4.909790	0.92107	.	.	ENSG00000187323	ENST00000442544	T	0.10382	2.88	5.66	5.66	0.87406	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.33323	0.0859	M	0.77616	2.38	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	T	0.03651	-1.1016	10	0.33141	T	0.24	.	14.8805	0.70528	1.0:0.0:0.0:0.0	.	45	P43146	DCC_HUMAN	A	45	ENSP00000389140:E45A	ENSP00000389140:E45A	E	+	2	0	DCC	48532464	1.000000	0.71417	0.977000	0.42913	0.998000	0.95712	8.952000	0.93031	2.161000	0.67846	0.533000	0.62120	GAA		0.483	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		3	31	0	0	0	0	3	31				
KIAA1468	57614	broad.mit.edu	37	18	59928749	59928749	+	Silent	SNP	A	A	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr18:59928749A>G	ENST00000398130.2	+	16	2440	c.2208A>G	c.(2206-2208)ggA>ggG	p.G736G	KIAA1468_ENST00000256858.6_Silent_p.G736G	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	736										autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				TTCAGGAAGGAGAACATGGAC	0.393																																						uc002lil.2		NA																	0				ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)	6						c.(2206-2208)GGA>GGG		hypothetical protein LOC57614							206.0	150.0	169.0					18																	59928749		2203	4300	6503	SO:0001819	synonymous_variant	57614						binding	g.chr18:59928749A>G	BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.2208A>G	18.37:g.59928749A>G						KIAA1468_uc002lik.1_Silent_p.G736G|KIAA1468_uc010xel.1_Silent_p.G736G|KIAA1468_uc002lim.2_Silent_p.G380G	p.G736G	NM_020854	NP_065905	Q9P260	K1468_HUMAN			16	2423	+		Colorectal(73;0.186)	736						Silent	SNP	ENST00000398130.2	37	c.2208A>G	CCDS11979.2																																																																																				0.393	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1	NM_020854		9	44	0	0	0	0	9	44				
MAST3	23031	broad.mit.edu	37	19	18235532	18235532	+	Silent	SNP	C	C	T	rs376554756		TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr19:18235532C>T	ENST00000262811.6	+	10	939	c.939C>T	c.(937-939)gaC>gaT	p.D313D	MAST3_ENST00000608648.1_3'UTR	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	313							ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						TTAAGACTGACCTTCCACAGT	0.617																																						uc002nhz.3		NA																	0				large_intestine(2)|ovary(2)|stomach(1)	5						c.(937-939)GAC>GAT		microtubule associated serine/threonine kinase		C		1,3937		0,1,1968	39.0	43.0	42.0		939	3.4	1.0	19		42	0,8310		0,0,4155	no	coding-synonymous	MAST3	NM_015016.1		0,1,6123	TT,TC,CC		0.0,0.0254,0.0082		313/1310	18235532	1,12247	1969	4155	6124	SO:0001819	synonymous_variant	23031						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:18235532C>T	AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.939C>T	19.37:g.18235532C>T							p.D313D	NM_015016	NP_055831	O60307	MAST3_HUMAN			10	939	+			313					Q7LDZ8|Q9UPI0	Silent	SNP	ENST00000262811.6	37	c.939C>T	CCDS46014.1																																																																																				0.617	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150		4	35	0	0	0	0	4	35				
RASGRP4	115727	broad.mit.edu	37	19	38912750	38912750	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr19:38912750G>A	ENST00000587738.1	-	2	137	c.67C>T	c.(67-69)Cgg>Tgg	p.R23W	RASGRP4_ENST00000454404.2_Missense_Mutation_p.R23W|RASGRP4_ENST00000587753.1_Missense_Mutation_p.R23W|RASGRP4_ENST00000426920.2_Missense_Mutation_p.R23W|RASGRP4_ENST00000586305.1_Missense_Mutation_p.R23W|RASGRP4_ENST00000433821.2_Missense_Mutation_p.R23W|RASGRP4_ENST00000293062.9_Missense_Mutation_p.R23W			Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	23					activation of phospholipase C activity (GO:0007202)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|myeloid cell differentiation (GO:0030099)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to extracellular stimulus (GO:0009991)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|GTP-dependent protein binding (GO:0030742)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGGCGGGGCCGGCCTCGCCCT	0.627																																						uc002oir.2		NA																	0				pancreas(1)|lung(1)|skin(1)	3						c.(67-69)CGG>TGG		RAS guanyl releasing protein 4 isoform a							36.0	44.0	41.0					19																	38912750		1961	4134	6095	SO:0001583	missense	115727				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity	g.chr19:38912750G>A	AY048119	CCDS46068.1, CCDS54262.1, CCDS54263.1, CCDS54264.1	19q13.1	2013-01-10						"""EF-hand domain containing"""	18958	protein-coding gene	gene with protein product		607320				11956218	Standard	NM_170604		Approved		uc021uub.1	Q8TDF6		ENST00000587738.1:c.67C>T	19.37:g.38912750G>A	ENSP00000465772:p.Arg23Trp					RASGRP4_uc010efz.1_5'Flank|RASGRP4_uc010ega.1_5'Flank|RASGRP4_uc010xua.1_Missense_Mutation_p.R23W|RASGRP4_uc010xub.1_Missense_Mutation_p.R23W|RASGRP4_uc010xuc.1_Missense_Mutation_p.R23W|RASGRP4_uc010xud.1_Missense_Mutation_p.R23W|RASGRP4_uc010xue.1_Missense_Mutation_p.R23W|RASGRP4_uc010egb.2_Missense_Mutation_p.R23W	p.R23W	NM_170604	NP_733749	Q8TDF6	GRP4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		2	281	-	all_cancers(60;4.21e-06)		23					A6H8M4|C0LTP2|C0LTP3|C0LTP4|C0LTP5|C0LTP7|C9J416|C9JHZ1|Q8N858|Q96QN5|Q96QN6|Q96QN7	Missense_Mutation	SNP	ENST00000587738.1	37	c.67C>T	CCDS46068.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041627	0.55003	.	.	ENSG00000171777	ENST00000433821;ENST00000293062;ENST00000426920;ENST00000405332;ENST00000454404	T;T;T;T	0.36699	1.24;1.24;1.24;1.24	4.07	2.93	0.34026	Ras guanine nucleotide exchange factor, domain (1);	0.620920	0.15328	N	0.268197	T	0.49949	0.1587	L	0.57536	1.79	0.34781	D	0.734775	D;D;D;D;D;D;D	0.89917	0.995;0.995;1.0;0.996;1.0;0.998;0.996	P;B;P;P;P;P;P	0.61722	0.513;0.412;0.893;0.53;0.893;0.785;0.53	T	0.63125	-0.6707	10	0.87932	D	0	-13.7795	10.8775	0.46919	0.0:0.0:0.8118:0.1882	.	23;23;23;23;23;23;23	C0LTP5;C0LTP7;C0LTP2;C0LTP4;C0LTP3;Q8TDF6-2;Q8TDF6	.;.;.;.;.;.;GRP4_HUMAN	W	23	ENSP00000411878:R23W;ENSP00000293062:R23W;ENSP00000445966:R23W;ENSP00000416463:R23W	ENSP00000293062:R23W	R	-	1	2	RASGRP4	43604590	0.470000	0.25854	0.998000	0.56505	0.245000	0.25701	2.112000	0.41892	2.284000	0.76573	0.462000	0.41574	CGG		0.627	RASGRP4-013	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460540.1	NM_170604		20	33	0	0	0	0	20	33				
MEGF8	1954	broad.mit.edu	37	19	42873017	42873017	+	Silent	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr19:42873017G>A	ENST00000251268.6	+	37	6504	c.6504G>A	c.(6502-6504)ggG>ggA	p.G2168G	MEGF8_ENST00000334370.4_Silent_p.G2101G|MEGF8_ENST00000378073.4_5'Flank	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2168	PSI 7.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GGCGTCCGGGGGCCTCCTGGG	0.647																																						uc002otl.3		NA																	0				ovary(1)	1						c.(6301-6303)GGG>GGA		multiple EGF-like-domains 8							78.0	88.0	84.0					19																	42873017		2203	4300	6503	SO:0001819	synonymous_variant	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42873017G>A	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.6504G>A	19.37:g.42873017G>A						MEGF8_uc002otm.3_Silent_p.G1709G|MEGF8_uc002otn.3_5'Flank	p.G2101G	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN			36	6938	+		Prostate(69;0.00682)	2168			Extracellular (Potential).|PSI 7.		A8KAY0|O75097	Silent	SNP	ENST00000251268.6	37	c.6303G>A																																																																																					0.647	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		36	63	0	0	0	0	36	63				
ZNF227	7770	broad.mit.edu	37	19	44739552	44739552	+	Silent	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr19:44739552T>C	ENST00000313040.7	+	6	1174	c.969T>C	c.(967-969)tcT>tcC	p.S323S	ZNF227_ENST00000391961.2_Silent_p.S272S|ZNF227_ENST00000589005.1_Silent_p.S272S	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	323					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(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				GAGAGAAGTCTTATAGATGCG	0.403																																						uc002oyu.2		NA																	0				ovary(1)	1						c.(967-969)TCT>TCC		zinc finger protein 227							64.0	66.0	65.0					19																	44739552		2203	4300	6503	SO:0001819	synonymous_variant	7770				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44739552T>C	AK092253	CCDS12636.1, CCDS74388.1	19q13.32	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	13020	protein-coding gene	gene with protein product							Standard	XM_005259232		Approved		uc002oyu.3	Q86WZ6		ENST00000313040.7:c.969T>C	19.37:g.44739552T>C						ZNF227_uc010xwu.1_Silent_p.S272S|ZNF227_uc002oyv.2_Silent_p.S323S|ZNF227_uc010xwv.1_Silent_p.S272S|ZNF227_uc010xww.1_Silent_p.S244S|ZNF227_uc002oyw.2_Silent_p.S295S|ZNF227_uc010ejh.2_Silent_p.S316S|ZNF235_uc002oyx.1_Intron	p.S323S	NM_182490	NP_872296	Q86WZ6	ZN227_HUMAN			6	1174	+		Prostate(69;0.0435)	323					B3KRU7|B7Z5P9	Silent	SNP	ENST00000313040.7	37	c.969T>C	CCDS12636.1																																																																																				0.403	ZNF227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460720.1	NM_182490		7	72	0	0	0	0	7	72				
ZNF229	7772	broad.mit.edu	37	19	44933969	44933969	+	Silent	SNP	G	G	A	rs375350769		TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr19:44933969G>A	ENST00000588931.1	-	6	1420	c.987C>T	c.(985-987)ggC>ggT	p.G329G	ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000291187.4_Silent_p.G323G|CTC-512J12.4_ENST00000588655.1_RNA	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	329					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(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TCTGTCTGACGCCCCGACCAC	0.507																																						uc002oze.1		NA																	0				skin(2)|ovary(1)|pancreas(1)	4						c.(985-987)GGC>GGT		zinc finger protein 229		G		0,3880		0,0,1940	60.0	59.0	59.0		987	-0.9	0.0	19		59	2,8300		0,2,4149	no	coding-synonymous	ZNF229	NM_014518.2		0,2,6089	AA,AG,GG		0.0241,0.0,0.0164		329/826	44933969	2,12180	1940	4151	6091	SO:0001819	synonymous_variant	7772				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44933969G>A	AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"""Zinc fingers, C2H2-type"", ""-"""	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.987C>T	19.37:g.44933969G>A						ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Silent_p.G323G	p.G329G	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN			6	1421	-		Prostate(69;0.0352)	329					B2RWN3|Q59FV2|Q86WL9	Silent	SNP	ENST00000588931.1	37	c.987C>T	CCDS42574.1																																																																																				0.507	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	NM_014518		7	77	0	0	0	0	7	77				
SAE1	10055	broad.mit.edu	37	19	47673077	47673077	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr19:47673077G>C	ENST00000270225.7	+	6	698	c.630G>C	c.(628-630)aaG>aaC	p.K210N	SAE1_ENST00000540850.1_Missense_Mutation_p.K36N|SAE1_ENST00000392776.3_Missense_Mutation_p.K210N|SAE1_ENST00000413379.3_Missense_Mutation_p.K210N|SAE1_ENST00000598840.1_Missense_Mutation_p.K129N	NM_005500.2	NP_005491.1	Q9UBE0	SAE1_HUMAN	SUMO1 activating enzyme subunit 1	210					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|regulation of mitotic cell cycle (GO:0007346)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP-dependent protein binding (GO:0043008)|enzyme activator activity (GO:0008047)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|ubiquitin activating enzyme activity (GO:0004839)			endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		TTCCACAGAAGGTGGTCTTCT	0.463																																						uc002pgc.2		NA																	0				ovary(1)	1						c.(628-630)AAG>AAC		SubName: Full=SUMO-1 activating enzyme subunit 1, isoform CRA_b; SubName: Full=cDNA, FLJ96708, Homo sapiens SUMO-1 activating enzyme subunit 1 (SAE1), mRNA;							139.0	132.0	134.0					19																	47673077		2203	4300	6503	SO:0001583	missense	10055				protein sumoylation|protein ubiquitination	nucleus	ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity	g.chr19:47673077G>C	BC018271	CCDS12696.1, CCDS54284.1, CCDS54285.1	19q13.32	2013-09-26				ENSG00000142230		"""Ubiquitin-like modifier activating enzymes"""	30660	protein-coding gene	gene with protein product	"""activator Of sumo 1"""	613294				10187858, 9920803, 10217437	Standard	NM_005500		Approved	AOS1, FLJ3091, Sua1	uc002pgc.3	Q9UBE0		ENST00000270225.7:c.630G>C	19.37:g.47673077G>C	ENSP00000270225:p.Lys210Asn					SAE1_uc002pgd.2_Missense_Mutation_p.K210N|SAE1_uc010ekx.2_Missense_Mutation_p.K210N|SAE1_uc010ekw.2_RNA|SAE1_uc010xyk.1_Missense_Mutation_p.K36N|SAE1_uc002pge.2_Missense_Mutation_p.K146N	p.K210N	NM_016402	NP_057486	Q9UBE0	SAE1_HUMAN		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)	6	686	+		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)	210					B2RDP5|B3KMQ2|F5GXX7|G3XAK6|O95717|Q9P020	Missense_Mutation	SNP	ENST00000270225.7	37	c.630G>C	CCDS12696.1	.	.	.	.	.	.	.	.	.	.	G	9.530	1.110671	0.20714	.	.	ENSG00000142230	ENST00000413379;ENST00000270225;ENST00000392776;ENST00000540850;ENST00000414294	T;T;T;T;T	0.73469	-0.74;0.99;-0.74;0.99;-0.75	5.73	-2.05	0.07321	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.093117	0.64402	D	0.000001	T	0.57140	0.2033	L	0.44542	1.39	0.32383	N	0.554303	B;B;B;B	0.21452	0.028;0.056;0.043;0.031	B;B;B;B	0.23275	0.013;0.045;0.043;0.022	T	0.47611	-0.9104	10	0.18710	T	0.47	.	6.365	0.21449	0.6047:0.0:0.2543:0.141	.	36;210;210;210	B4DY66;G3XAK6;F5GXX7;Q9UBE0	.;.;.;SAE1_HUMAN	N	210;210;210;36;210	ENSP00000416557:K210N;ENSP00000270225:K210N;ENSP00000440818:K210N;ENSP00000440955:K36N;ENSP00000398818:K210N	ENSP00000270225:K210N	K	+	3	2	SAE1	52364917	0.995000	0.38212	0.993000	0.49108	0.135000	0.20990	0.089000	0.15002	-0.058000	0.13177	0.555000	0.69702	AAG		0.463	SAE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466775.1	NM_005500		42	107	0	0	0	0	42	107				
PPFIA3	8541	broad.mit.edu	37	19	49643025	49643025	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr19:49643025G>C	ENST00000334186.4	+	17	2526	c.2177G>C	c.(2176-2178)aGa>aCa	p.R726T	PPFIA3_ENST00000602351.1_Missense_Mutation_p.R726T	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	726					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CGTCTTGAGAGAATGACCCAG	0.652																																						uc002pmr.2		NA																	0				lung(1)	1						c.(2176-2178)AGA>ACA		PTPRF interacting protein alpha 3							32.0	32.0	32.0					19																	49643025		2203	4300	6503	SO:0001583	missense	8541					cell surface|cytoplasm	protein binding	g.chr19:49643025G>C	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.2177G>C	19.37:g.49643025G>C	ENSP00000335614:p.Arg726Thr					PPFIA3_uc010yai.1_RNA|PPFIA3_uc010yaj.1_RNA|PPFIA3_uc002pms.2_Missense_Mutation_p.R594T	p.R726T	NM_003660	NP_003651	O75145	LIPA3_HUMAN		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	17	2509	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	726					A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation	SNP	ENST00000334186.4	37	c.2177G>C	CCDS12758.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	17.12|17.12	3.307173|3.307173	0.60305|0.60305	.|.	.|.	ENSG00000177380|ENSG00000177380	ENST00000421230|ENST00000334186	.|T	.|0.46819	.|0.86	4.46|4.46	4.46|4.46	0.54185|0.54185	.|.	.|0.371554	.|0.18196	.|U	.|0.148664	T|T	0.54886|0.54886	0.1886|0.1886	M|M	0.77820|0.77820	2.39|2.39	0.25052|0.25052	N|N	0.991129|0.991129	.|P;P	.|0.40875	.|0.731;0.56	.|B;B	.|0.41666	.|0.363;0.249	T|T	0.58025|0.58025	-0.7709|-0.7709	6|10	0.87932|0.72032	D|D	0|0.01	-2.3758|-2.3758	16.2614|16.2614	0.82549|0.82549	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|726;726	.|O75145-2;O75145	.|.;LIPA3_HUMAN	Q|T	576|726	.|ENSP00000335614:R726T	ENSP00000411758:E576Q|ENSP00000335614:R726T	E|R	+|+	1|2	0|0	PPFIA3|PPFIA3	54334837|54334837	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	5.330000|5.330000	0.65899|0.65899	2.199000|2.199000	0.70637|0.70637	0.552000|0.552000	0.68991|0.68991	GAA|AGA		0.652	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660		3	57	0	0	0	0	3	57				
ZNF671	79891	broad.mit.edu	37	19	58234695	58234695	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr19:58234695A>G	ENST00000317398.6	-	2	247	c.152T>C	c.(151-153)tTt>tCt	p.F51S	ZNF671_ENST00000335820.3_Intron|ZNF671_ENST00000594803.1_5'UTR|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF671_ENST00000596939.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	51	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CACATCCTCAAAGACCACACA	0.453																																						uc002qpz.3		NA																	0				ovary(1)	1						c.(151-153)TTT>TCT		zinc finger protein 671							179.0	170.0	173.0					19																	58234695		2203	4300	6503	SO:0001583	missense	79891				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58234695A>G		CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814		"""Zinc fingers, C2H2-type"", ""-"""	26279	protein-coding gene	gene with protein product	"""hypothetical protein FLJ23506"""					12477932	Standard	NM_024833		Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.152T>C	19.37:g.58234695A>G	ENSP00000321848:p.Phe51Ser					ZNF776_uc002qpx.2_Intron|ZNF671_uc010eug.2_5'UTR|ZNF671_uc010yhf.1_Intron	p.F51S	NM_024833	NP_079109	Q8TAW3	ZN671_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	2	251	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	51			KRAB.		A6NF07|Q9H5E9	Missense_Mutation	SNP	ENST00000317398.6	37	c.152T>C	CCDS12961.1	.	.	.	.	.	.	.	.	.	.	A	8.975	0.973933	0.18736	.	.	ENSG00000083814	ENST00000317398	T	0.08984	3.03	1.25	0.182	0.15077	Krueppel-associated box (4);	.	.	.	.	T	0.15955	0.0384	H	0.94462	3.54	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33929	-0.9849	9	0.66056	D	0.02	.	3.2046	0.06661	0.7404:0.0:0.2596:0.0	.	51	Q8TAW3	ZN671_HUMAN	S	51	ENSP00000321848:F51S	ENSP00000321848:F51S	F	-	2	0	ZNF671	62926507	0.001000	0.12720	0.013000	0.15412	0.431000	0.31685	0.410000	0.21098	-0.008000	0.14320	0.383000	0.25322	TTT		0.453	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466817.1	NM_024833		33	128	0	0	0	0	33	128				
MOGS	7841	broad.mit.edu	37	2	74688529	74688529	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr2:74688529C>T	ENST00000233616.4	-	4	2549	c.2387G>A	c.(2386-2388)tGg>tAg	p.W796*	MOGS_ENST00000462443.1_5'Flank|MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000452063.2_Nonsense_Mutation_p.W690*	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	796					cellular protein metabolic process (GO:0044267)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosidase activity (GO:0015926)|mannosyl-oligosaccharide glucosidase activity (GO:0004573)			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						GTACTGGCGCCATACATTGCC	0.622																																						uc010ffj.2		NA																	0					0						c.(2386-2388)TGG>TAG		mannosyl-oligosaccharide glucosidase isoform 1							68.0	74.0	72.0					2																	74688529		2076	4198	6274	SO:0001587	stop_gained	7841				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity	g.chr2:74688529C>T	X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	3.2.1.106		24862	protein-coding gene	gene with protein product	"""glucosidase I"", ""processing A-glucosidase I"""	601336				7635146, 8786151	Standard	NM_006302		Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.2387G>A	2.37:g.74688529C>T	ENSP00000233616:p.Trp796*					MOGS_uc010ffh.2_Nonsense_Mutation_p.W521*|MOGS_uc010yrt.1_Nonsense_Mutation_p.W677*|MOGS_uc010ffi.2_Nonsense_Mutation_p.W690*	p.W796*	NM_006302	NP_006293	Q13724	MOGS_HUMAN			4	2550	-			796			Lumenal (Potential).		A8K938|F5H6D0|Q17RN9|Q8TCT5	Nonsense_Mutation	SNP	ENST00000233616.4	37	c.2387G>A	CCDS42700.1	.	.	.	.	.	.	.	.	.	.	C	36	5.772831	0.96922	.	.	ENSG00000115275	ENST00000233616;ENST00000452063	.	.	.	4.48	3.59	0.41128	.	0.536325	0.20965	N	0.082487	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	0.0	5.6405	0.17561	0.1973:0.7032:0.0:0.0996	.	.	.	.	X	796;690	.	ENSP00000233616:W796X	W	-	2	0	MOGS	74542037	1.000000	0.71417	0.955000	0.39395	0.852000	0.48524	1.543000	0.36147	1.209000	0.43321	0.563000	0.77884	TGG		0.622	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328382.1	NM_006302		10	80	0	0	0	0	10	80				
LMAN2L	81562	broad.mit.edu	37	2	97369275	97369275	+	IGR	SNP	A	A	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr2:97369275A>G	ENST00000264963.4	-	0	2397				FER1L5_ENST00000457909.1_RNA	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like						ER to Golgi vesicle-mediated transport (GO:0006888)|protein folding (GO:0006457)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						GGTGAAGATGAGCCTGGAGAT	0.572																																						uc010fia.2		NA																	0				ovary(1)	1						c.(5815-5817)AGC>GGC		fer-1-like 5 isoform 2							55.0	60.0	58.0					2																	97369275		1955	4145	6100	SO:0001628	intergenic_variant	90342					integral to membrane		g.chr2:97369275A>G	AL136617	CCDS2023.1, CCDS46365.1	2q11.1	2008-02-05			ENSG00000114988	ENSG00000114988			19263	protein-coding gene	gene with protein product		609552				12609988	Standard	NM_001142292		Approved	DKFZp564L2423, VIPL	uc002swv.3	Q9H0V9	OTTHUMG00000130453		2.37:g.97369275A>G						FER1L5_uc002sws.3_Missense_Mutation_p.S648G|FER1L5_uc002swt.3_Missense_Mutation_p.S648G|FER1L5_uc010yus.1_Missense_Mutation_p.S647G	p.S1939G	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN			50	5815	+			1939					B4DSH3|D3DXH6|Q53GV3|Q53S67|Q63HN6|Q8NBQ6|Q9BQ14	Missense_Mutation	SNP	ENST00000264963.4	37	c.5815A>G	CCDS2023.1	.	.	.	.	.	.	.	.	.	.	A	13.73	2.324627	0.41197	.	.	ENSG00000214272	ENST00000414152;ENST00000436930;ENST00000397978	.	.	.	5.67	4.49	0.54785	.	0.311144	0.22527	U	0.058895	T	0.42765	0.1217	L	0.38175	1.15	.	.	.	B;B;B	0.29301	0.156;0.104;0.241	B;B;B	0.27500	0.037;0.033;0.08	T	0.55742	-0.8093	8	0.87932	D	0	-10.4485	11.104	0.48193	0.8611:0.0:0.0:0.1388	.	647;1939;648	B7ZLI3;A0AVI2;A0AVI2-2	.;FR1L5_HUMAN;.	G	1939;1943;648	.	ENSP00000442027:S648G	S	+	1	0	FER1L5	96733002	1.000000	0.71417	0.970000	0.41538	0.771000	0.43674	5.911000	0.69939	0.941000	0.37499	0.533000	0.62120	AGC		0.572	LMAN2L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252844.1	NM_030805		12	32	0	0	0	0	12	32				
GPR39	2863	broad.mit.edu	37	2	133403103	133403103	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr2:133403103A>T	ENST00000329321.3	+	2	1755	c.1286A>T	c.(1285-1287)gAg>gTg	p.E429V	GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	429					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTGAGTCTCGAGTCACTAGAG	0.522																																						uc002ttl.2		NA																	0					0						c.(1285-1287)GAG>GTG		G protein-coupled receptor 39							56.0	61.0	60.0					2																	133403103		2203	4300	6503	SO:0001583	missense	2863					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr2:133403103A>T	AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"""GPCR / Class A : Orphans"""	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.1286A>T	2.37:g.133403103A>T	ENSP00000327417:p.Glu429Val					LYPD1_uc002ttm.3_3'UTR|LYPD1_uc002ttn.2_3'UTR|LYPD1_uc002tto.2_3'UTR	p.E429V	NM_001508	NP_001499	O43194	GPR39_HUMAN			2	1755	+			429					B2RC12|B6V9G4|Q08AS2|Q53R01	Missense_Mutation	SNP	ENST00000329321.3	37	c.1286A>T	CCDS2170.1	.	.	.	.	.	.	.	.	.	.	A	12.40	1.926032	0.34002	.	.	ENSG00000183840	ENST00000329321	T	0.68479	-0.33	5.05	3.86	0.44501	.	1.397610	0.04211	N	0.331688	T	0.67785	0.2930	M	0.62723	1.935	0.09310	N	0.999999	B	0.26935	0.164	B	0.24701	0.055	T	0.55860	-0.8074	10	0.62326	D	0.03	.	10.7947	0.46453	0.6982:0.3018:0.0:0.0	.	429	O43194	GPR39_HUMAN	V	429	ENSP00000327417:E429V	ENSP00000327417:E429V	E	+	2	0	GPR39	133119573	0.013000	0.17824	0.023000	0.16930	0.008000	0.06430	1.213000	0.32407	0.918000	0.36919	0.529000	0.55759	GAG		0.522	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254582.1			15	62	0	0	0	0	15	62				
TTN	7273	broad.mit.edu	37	2	179404536	179404536	+	Silent	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr2:179404536T>C	ENST00000591111.1	-	302	93557	c.93333A>G	c.(93331-93333)gcA>gcG	p.A31111A	TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.A23879A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.A23812A|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000460472.2_Silent_p.A23687A|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000589042.1_Silent_p.A32752A|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000342992.6_Silent_p.A30184A|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31111	Ig-like 139.				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)			TTTCAGATGTTGCAATCATGG	0.443																																						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.(90550-90552)GCA>GCG		titin isoform N2-A							131.0	122.0	125.0					2																	179404536		2022	4185	6207	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179404536T>C	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.93333A>G	2.37:g.179404536T>C						uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.A23879A|TTN_uc010zfi.1_Silent_p.A23812A|TTN_uc010zfj.1_Silent_p.A23687A	p.A30184A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		301	90776	-			31111					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	Silent	SNP	ENST00000591111.1	37	c.90552A>G																																																																																					0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	72	0	0	0	0	4	72				
SLC19A3	80704	broad.mit.edu	37	2	228552279	228552279	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr2:228552279T>C	ENST00000258403.3	-	6	1396	c.1325A>G	c.(1324-1326)tAt>tGt	p.Y442C	SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Missense_Mutation_p.Y438C	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	442					small molecule metabolic process (GO:0044281)|thiamine transmembrane transport (GO:0071934)|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)	thiamine uptake transmembrane transporter activity (GO:0015403)			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	ATAGCTCCCATAAACTAAAAA	0.348																																						uc002vpi.2		NA																	0				ovary(2)	2						c.(1324-1326)TAT>TGT		solute carrier family 19, member 3	L-Cysteine(DB00151)						73.0	74.0	74.0					2																	228552279		2203	4300	6503	SO:0001583	missense	80704				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	g.chr2:228552279T>C	AF271633	CCDS2468.1	2q37	2013-07-18	2013-07-18		ENSG00000135917	ENSG00000135917		"""Solute carriers"""	16266	protein-coding gene	gene with protein product	"""thiamine transporter 2"""	606152	"""solute carrier family 19, member 3"""			11136550, 15871139	Standard	XM_005246871		Approved	THTR2	uc002vpi.3	Q9BZV2	OTTHUMG00000133185	ENST00000258403.3:c.1325A>G	2.37:g.228552279T>C	ENSP00000258403:p.Tyr442Cys					SLC19A3_uc002vpj.2_RNA|SLC19A3_uc010zlv.1_Missense_Mutation_p.Y438C	p.Y442C	NM_025243	NP_079519	Q9BZV2	S19A3_HUMAN		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	6	1414	-		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)	442			Helical; (Potential).			Missense_Mutation	SNP	ENST00000258403.3	37	c.1325A>G	CCDS2468.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.081468	0.76528	.	.	ENSG00000135917	ENST00000258403;ENST00000541617	T;T	0.81163	-1.46;-1.46	5.65	5.65	0.86999	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.89424	0.6711	M	0.86420	2.815	0.80722	D	1	D;D	0.67145	0.981;0.996	P;P	0.59115	0.852;0.834	D	0.90962	0.4813	10	0.59425	D	0.04	-5.7364	15.8844	0.79232	0.0:0.0:0.0:1.0	.	438;442	F5H2M8;Q9BZV2	.;S19A3_HUMAN	C	442;438	ENSP00000258403:Y442C;ENSP00000445519:Y438C	ENSP00000258403:Y442C	Y	-	2	0	SLC19A3	228260523	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.918000	0.75788	2.163000	0.67991	0.459000	0.35465	TAT		0.348	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256894.1			9	31	0	0	0	0	9	31				
PDCD1	5133	broad.mit.edu	37	2	242793393	242793393	+	Silent	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr2:242793393G>A	ENST00000334409.5	-	5	753	c.684C>T	c.(682-684)ttC>ttT	p.F228F		NM_005018.2	NP_005009.2	Q15116	PDCD1_HUMAN	programmed cell death 1	228					apoptotic process (GO:0006915)|humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		CTCGCCACTGGAAATCCAGCT	0.622																																						uc002wcq.3		NA																	0				ovary(1)	1						c.(682-684)TTC>TTT		programmed cell death 1 precursor							36.0	43.0	40.0					2																	242793393		2203	4300	6503	SO:0001819	synonymous_variant	5133				apoptosis|humoral immune response|multicellular organismal development|T cell costimulation	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity	g.chr2:242793393G>A	AY206416	CCDS33428.1	2q37.3	2014-01-29			ENSG00000188389	ENSG00000188389		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	8760	protein-coding gene	gene with protein product		600244	"""systemic lupus erythematosus susceptibility 2"""	SLEB2		7851902, 12402038	Standard	NM_005018		Approved	CD279, PD1, hSLE1	uc002wcq.4	Q15116	OTTHUMG00000151342	ENST00000334409.5:c.684C>T	2.37:g.242793393G>A						PDCD1_uc010fzs.2_Silent_p.F107F|PDCD1_uc010fzt.2_RNA	p.F228F	NM_005018	NP_005009	Q15116	PDCD1_HUMAN		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)	5	752	-		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	228			Cytoplasmic (Potential).		O00517|Q8IX89	Silent	SNP	ENST00000334409.5	37	c.684C>T	CCDS33428.1	.	.	.	.	.	.	.	.	.	.	G	2.240	-0.374084	0.05034	.	.	ENSG00000188389	ENST00000343705	.	.	.	3.79	1.93	0.25924	.	.	.	.	.	T	0.53722	0.1814	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42699	-0.9436	4	.	.	.	-27.6026	6.1206	0.20151	0.2539:0.0:0.7461:0.0	.	.	.	.	S	120	.	.	P	-	1	0	PDCD1	242442066	0.996000	0.38824	0.884000	0.34674	0.161000	0.22273	0.358000	0.20216	0.354000	0.24105	0.555000	0.69702	CCA		0.622	PDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322313.1	NM_005018		11	40	0	0	0	0	11	40				
HAO1	54363	broad.mit.edu	37	20	7886819	7886819	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr20:7886819C>T	ENST00000378789.3	-	4	754	c.703G>A	c.(703-705)Gca>Aca	p.A235T		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	235	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						ATGCCCTTTGCAACAATTGGC	0.383																																						uc002wmw.1		NA																	0				ovary(3)	3						c.(703-705)GCA>ACA		hydroxyacid oxidase 1							156.0	147.0	150.0					20																	7886819		2203	4300	6503	SO:0001583	missense	54363				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity	g.chr20:7886819C>T	AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.703G>A	20.37:g.7886819C>T	ENSP00000368066:p.Ala235Thr					HAO1_uc010gbu.2_Missense_Mutation_p.A235T	p.A235T	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN			4	727	-			235			FMN hydroxy acid dehydrogenase.		Q14CQ0|Q9UPZ0|Q9Y3I7	Missense_Mutation	SNP	ENST00000378789.3	37	c.703G>A	CCDS13100.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.736542	0.69304	.	.	ENSG00000101323	ENST00000378789	T	0.29655	1.56	5.54	5.54	0.83059	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.112747	0.64402	D	0.000007	T	0.39835	0.1093	L	0.58510	1.815	0.37628	D	0.921557	B;B	0.23854	0.092;0.092	B;B	0.35688	0.208;0.208	T	0.44513	-0.9323	10	0.87932	D	0	0.0239	16.4691	0.84095	0.0:0.8691:0.1309:0.0	.	235;235	A8K058;Q9UJM8	.;HAOX1_HUMAN	T	235	ENSP00000368066:A235T	ENSP00000368066:A235T	A	-	1	0	HAO1	7834819	0.973000	0.33851	1.000000	0.80357	0.805000	0.45488	3.068000	0.50018	2.596000	0.87737	0.591000	0.81541	GCA		0.383	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077926.2			26	73	0	0	0	0	26	73				
CDC45	8318	broad.mit.edu	37	22	19467525	19467525	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr22:19467525G>A	ENST00000407835.1	+	2	290	c.34G>A	c.(34-36)Gag>Aag	p.E12K	CDC45_ENST00000404724.3_Missense_Mutation_p.E12K|UFD1L_ENST00000360834.4_5'Flank|UFD1L_ENST00000484101.1_5'Flank|UFD1L_ENST00000263202.10_5'Flank|CDC45_ENST00000483431.1_3'UTR|CDC45_ENST00000437685.2_Missense_Mutation_p.E12K|UFD1L_ENST00000399523.1_5'Flank|CDC45_ENST00000263201.1_Missense_Mutation_p.E12K			O75419	CDC45_HUMAN	cell division cycle 45	12					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						AGAGTTCTACGAGGTGGTCCA	0.692																																						uc002zpr.2		NA																	0				lung(1)	1						c.(34-36)GAG>AAG		CDC45-like							44.0	50.0	48.0					22																	19467525		2203	4298	6501	SO:0001583	missense	8318				DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding	g.chr22:19467525G>A	AF053074	CCDS13762.1, CCDS54499.1, CCDS54500.1	22q11.21	2013-01-17	2013-01-17	2010-03-24	ENSG00000093009	ENSG00000093009			1739	protein-coding gene	gene with protein product	"""human CDC45"""	603465	"""CDC45 (cell division cycle 45, S.cerevisiae, homolog)-like"", ""CDC45 cell division cycle 45-like (S. cerevisiae)"", ""cell division cycle 45 homolog (S. cerevisiae)"""	CDC45L2, CDC45L		9660782, 9724329, 17608804	Standard	NM_001178010		Approved		uc011aha.2	O75419	OTTHUMG00000150386	ENST00000407835.1:c.34G>A	22.37:g.19467525G>A	ENSP00000385240:p.Glu12Lys					UFD1L_uc002zpm.2_5'Flank|UFD1L_uc002zpo.2_5'Flank|UFD1L_uc011agy.1_5'Flank|UFD1L_uc002zpp.2_5'Flank|UFD1L_uc010grq.2_5'Flank|CDC45_uc011agz.1_Missense_Mutation_p.E12K|CDC45_uc011aha.1_Missense_Mutation_p.E12K|CDC45_uc002zps.2_Missense_Mutation_p.E12K|CDC45_uc002zpt.2_Missense_Mutation_p.E12K	p.E12K	NM_003504	NP_003495	O75419	CDC45_HUMAN			1	110	+			12					B4DDB4|B4DDU3|E9PDH7|O60856|Q20WK8|Q6UW54|Q9UP68	Missense_Mutation	SNP	ENST00000407835.1	37	c.34G>A	CCDS13762.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511611	0.85389	.	.	ENSG00000093009	ENST00000407835;ENST00000455750;ENST00000437685;ENST00000263201;ENST00000404724	T;T;T;T;T	0.44083	1.92;0.93;1.89;1.92;1.86	5.32	4.31	0.51392	.	0.146844	0.64402	D	0.000013	T	0.36082	0.0954	L	0.53249	1.67	0.47123	D	0.999323	P;P;P;P;P	0.52061	0.95;0.667;0.95;0.898;0.914	B;B;B;B;B	0.36666	0.23;0.109;0.23;0.23;0.23	T	0.42916	-0.9423	10	0.59425	D	0.04	-37.6605	14.2057	0.65732	0.0724:0.0:0.9276:0.0	.	12;12;12;12;12	E9PDH7;B4E092;B4DDB4;B4DDU3;O75419	.;.;.;.;CDC45_HUMAN	K	12	ENSP00000385240:E12K;ENSP00000413138:E12K;ENSP00000405726:E12K;ENSP00000263201:E12K;ENSP00000384978:E12K	ENSP00000263201:E12K	E	+	1	0	CDC45	17847525	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.589000	0.67523	1.630000	0.50440	0.655000	0.94253	GAG		0.692	CDC45-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317903.1	NM_003504		6	149	0	0	0	0	6	149				
CDC45	8318	broad.mit.edu	37	22	19471460	19471460	+	Missense_Mutation	SNP	G	G	A	rs61752240	byFrequency	TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr22:19471460G>A	ENST00000407835.1	+	6	674	c.418G>A	c.(418-420)Gat>Aat	p.D140N	CDC45_ENST00000404724.3_Missense_Mutation_p.D94N|CDC45_ENST00000483431.1_3'UTR|CDC45_ENST00000437685.2_Missense_Mutation_p.D140N|CDC45_ENST00000263201.1_Missense_Mutation_p.D140N			O75419	CDC45_HUMAN	cell division cycle 45	140					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						TGAAGAGGAGGATGAAGAGCA	0.433																																						uc002zpr.2		NA																	0				lung(1)	1						c.(418-420)GAT>AAT		CDC45-like		G	ASN/ASP,ASN/ASP,ASN/ASP	0,4406		0,0,2203	123.0	109.0	114.0		418,280,418	5.5	1.0	22	dbSNP_129	114	3,8597	3.0+/-9.4	0,3,4297	no	missense,missense,missense	CDC45	NM_001178010.1,NM_001178011.1,NM_003504.3	23,23,23	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign,benign,benign	140/599,94/521,140/567	19471460	3,13003	2203	4300	6503	SO:0001583	missense	8318				DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding	g.chr22:19471460G>A	AF053074	CCDS13762.1, CCDS54499.1, CCDS54500.1	22q11.21	2013-01-17	2013-01-17	2010-03-24	ENSG00000093009	ENSG00000093009			1739	protein-coding gene	gene with protein product	"""human CDC45"""	603465	"""CDC45 (cell division cycle 45, S.cerevisiae, homolog)-like"", ""CDC45 cell division cycle 45-like (S. cerevisiae)"", ""cell division cycle 45 homolog (S. cerevisiae)"""	CDC45L2, CDC45L		9660782, 9724329, 17608804	Standard	NM_001178010		Approved		uc011aha.2	O75419	OTTHUMG00000150386	ENST00000407835.1:c.418G>A	22.37:g.19471460G>A	ENSP00000385240:p.Asp140Asn					CDC45_uc011agz.1_Missense_Mutation_p.D135N|CDC45_uc011aha.1_Missense_Mutation_p.D140N|CDC45_uc002zps.2_Missense_Mutation_p.D140N|CDC45_uc002zpt.2_Missense_Mutation_p.D94N	p.D140N	NM_003504	NP_003495	O75419	CDC45_HUMAN			5	494	+			140					B4DDB4|B4DDU3|E9PDH7|O60856|Q20WK8|Q6UW54|Q9UP68	Missense_Mutation	SNP	ENST00000407835.1	37	c.418G>A	CCDS13762.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.031788	0.93575	0.0	3.49E-4	ENSG00000093009	ENST00000407835;ENST00000438587;ENST00000437685;ENST00000263201;ENST00000404724	T;T;T;T;T	0.27104	1.9;1.96;1.96;1.9;1.69	5.5	5.5	0.81552	.	0.621219	0.17764	N	0.162781	T	0.49389	0.1554	M	0.74881	2.28	0.58432	D	0.999997	P;P;P;P;P	0.48350	0.615;0.886;0.909;0.848;0.607	P;P;P;P;P	0.55785	0.572;0.784;0.5;0.734;0.622	T	0.48502	-0.9030	10	0.62326	D	0.03	-6.6055	19.3904	0.94578	0.0:0.0:1.0:0.0	rs61752240	140;135;94;140;140	E9PDH7;B4E092;B4DDB4;B4DDU3;O75419	.;.;.;.;CDC45_HUMAN	N	140;128;140;140;94	ENSP00000385240:D140N;ENSP00000397434:D128N;ENSP00000405726:D140N;ENSP00000263201:D140N;ENSP00000384978:D94N	ENSP00000263201:D140N	D	+	1	0	CDC45	17851460	1.000000	0.71417	0.971000	0.41717	0.892000	0.51952	7.461000	0.80834	2.579000	0.87056	0.603000	0.83216	GAT		0.433	CDC45-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317903.1	NM_003504		7	83	0	0	0	0	7	83				
CACNA1I	8911	broad.mit.edu	37	22	40066099	40066099	+	Silent	SNP	C	C	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr22:40066099C>A	ENST00000402142.3	+	25	4251	c.4251C>A	c.(4249-4251)atC>atA	p.I1417I	CACNA1I_ENST00000400164.3_Silent_p.I1382I|CACNA1I_ENST00000404898.1_Silent_p.I1382I|CACNA1I_ENST00000336649.4_Silent_p.I1423I|CACNA1I_ENST00000401624.1_Silent_p.I1417I|CACNA1I_ENST00000407673.1_Silent_p.I1382I	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1417					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	TCCTGCTCATCGTCAGCTTCT	0.582																																						uc003ayc.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(4249-4251)ATC>ATA		calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						351.0	349.0	350.0					22																	40066099		2130	4255	6385	SO:0001819	synonymous_variant	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40066099C>A	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.4251C>A	22.37:g.40066099C>A						CACNA1I_uc003ayd.2_Silent_p.I1382I|CACNA1I_uc003aye.2_Silent_p.I1332I|CACNA1I_uc003ayf.2_Silent_p.I1297I	p.I1417I	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN			25	4251	+	Melanoma(58;0.0749)		1417			Helical; Name=S6 of repeat III; (Potential).|III.		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Silent	SNP	ENST00000402142.3	37	c.4251C>A	CCDS46710.1																																																																																				0.582	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		17	316	1	0	5.39e-06	1.34e-05	17	316				
FAM118A	55007	broad.mit.edu	37	22	45728337	45728337	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr22:45728337C>G	ENST00000216214.3	+	7	1517	c.683C>G	c.(682-684)tCc>tGc	p.S228C	FAM118A_ENST00000441876.2_Missense_Mutation_p.S228C|FAM118A_ENST00000405548.3_Missense_Mutation_p.S46C	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN	family with sequence similarity 118, member A	228						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CGCACCAAGTCCTTTCTGTTT	0.463																																						uc003bfz.3		NA																	0					0						c.(682-684)TCC>TGC		hypothetical protein LOC55007							141.0	155.0	150.0					22																	45728337		2203	4300	6503	SO:0001583	missense	55007					integral to membrane		g.chr22:45728337C>G	BC013696	CCDS14065.1	22q13.3	2006-04-26	2006-04-26	2006-04-26	ENSG00000100376	ENSG00000100376			1313	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 8"""	C22orf8		12477932	Standard	NM_001104595		Approved	FLJ20635, bK268H5.C22.4	uc003bga.4	Q9NWS6	OTTHUMG00000151338	ENST00000216214.3:c.683C>G	22.37:g.45728337C>G	ENSP00000216214:p.Ser228Cys					FAM118A_uc003bga.3_Missense_Mutation_p.S228C|FAM118A_uc011aqr.1_Missense_Mutation_p.S46C	p.S228C	NM_001104595	NP_001098065	Q9NWS6	F118A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)	7	1299	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	228					B3KWG4|B4DY02|Q5TII5|Q96CY3	Missense_Mutation	SNP	ENST00000216214.3	37	c.683C>G	CCDS14065.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317533	0.81469	.	.	ENSG00000100376	ENST00000216214;ENST00000441876;ENST00000405548	T;T;T	0.30448	1.53;1.53;1.53	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.50514	0.1620	L	0.47716	1.5	0.58432	D	0.999994	D	0.76494	0.999	D	0.66847	0.947	T	0.41645	-0.9497	10	0.56958	D	0.05	-10.03	19.6493	0.95794	0.0:1.0:0.0:0.0	.	228	Q9NWS6	F118A_HUMAN	C	228;228;46	ENSP00000216214:S228C;ENSP00000395892:S228C;ENSP00000384836:S46C	ENSP00000216214:S228C	S	+	2	0	FAM118A	44107001	1.000000	0.71417	0.968000	0.41197	0.558000	0.35554	7.396000	0.79891	2.743000	0.94032	0.655000	0.94253	TCC		0.463	FAM118A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322260.1	NM_017911		13	188	0	0	0	0	13	188				
TTLL8	164714	broad.mit.edu	37	22	50470327	50470327	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr22:50470327C>T	ENST00000266182.6	-	11	1494	c.1495G>A	c.(1495-1497)Gag>Aag	p.E499K	TTLL8_ENST00000440475.1_Missense_Mutation_p.E479K			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8	515	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		TTGCGAGGCTCCACGTGGTCC	0.637																																						uc011ark.1		NA																	0				ovary(2)	2						c.(1495-1497)GAG>AAG		tubulin tyrosine ligase-like family, member 8							66.0	72.0	70.0					22																	50470327		2198	4288	6486	SO:0001583	missense	164714							g.chr22:50470327C>T			22q13.33	2013-02-14			ENSG00000138892	ENSG00000138892		"""Tubulin tyrosine ligase-like family"""	34000	protein-coding gene	gene with protein product						15890843	Standard	XM_003403745		Approved			A6PVC2	OTTHUMG00000150241	ENST00000266182.6:c.1495G>A	22.37:g.50470327C>T	ENSP00000266182:p.Glu499Lys						p.E499K	NM_001080447	NP_001073916				READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)	11	1495	-		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)						B5MDV0	Missense_Mutation	SNP	ENST00000266182.6	37	c.1495G>A		.	.	.	.	.	.	.	.	.	.	C	20.8	4.057257	0.76074	.	.	ENSG00000138892	ENST00000266182;ENST00000440475;ENST00000433387	T;T;T	0.05717	3.4;3.4;3.4	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.20740	0.0499	L	0.53780	1.695	0.45676	D	0.998591	D	0.89917	1.0	D	0.77557	0.99	T	0.00443	-1.1736	10	0.42905	T	0.14	.	16.7459	0.85471	0.0:1.0:0.0:0.0	.	499	B5MDV0	.	K	499;479;515	ENSP00000266182:E499K;ENSP00000387509:E479K;ENSP00000392252:E515K	ENSP00000266182:E499K	E	-	1	0	TTLL8	48812454	1.000000	0.71417	1.000000	0.80357	0.265000	0.26407	1.869000	0.39519	2.259000	0.74868	0.491000	0.48974	GAG		0.637	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001080447		6	40	0	0	0	0	6	40				
ARPP21	10777	broad.mit.edu	37	3	35732405	35732405	+	Silent	SNP	T	T	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr3:35732405T>A	ENST00000187397.4	+	9	1050	c.594T>A	c.(592-594)ctT>ctA	p.L198L	ARPP21_ENST00000417925.1_Silent_p.L198L|ARPP21_ENST00000444190.1_Silent_p.L198L|ARPP21_ENST00000458225.1_Silent_p.L198L|ARPP21_ENST00000337271.5_Silent_p.L198L	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	198	R3H. {ECO:0000255|PROSITE- ProRule:PRU00382}.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AGAGGATGCTTGTCCATCGAG	0.383																																						uc003cgb.2		NA																	0				ovary(2)|skin(1)	3						c.(592-594)CTT>CTA		cyclic AMP-regulated phosphoprotein, 21 kD							122.0	111.0	114.0					3																	35732405		2203	4300	6503	SO:0001819	synonymous_variant	10777					cytoplasm	nucleic acid binding	g.chr3:35732405T>A	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.594T>A	3.37:g.35732405T>A						ARPP21_uc003cga.2_Silent_p.L198L|ARPP21_uc011axy.1_Silent_p.L198L|ARPP21_uc003cgf.2_Silent_p.L34L	p.L198L	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN			9	858	+			198			R3H.		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Silent	SNP	ENST00000187397.4	37	c.594T>A	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	T	2.129	-0.399664	0.04865	.	.	ENSG00000172995	ENST00000425289	.	.	.	5.67	-2.29	0.06805	.	.	.	.	.	T	0.53850	0.1822	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51849	-0.8653	4	.	.	.	-14.9651	9.1717	0.37086	0.0765:0.0657:0.591:0.2668	.	.	.	.	S	40	.	.	C	+	1	0	ARPP21	35707409	0.239000	0.23836	0.997000	0.53966	0.194000	0.23727	-0.464000	0.06688	-0.094000	0.12374	-0.313000	0.08912	TGT		0.383	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		7	54	0	0	0	0	7	54				
SCN11A	11280	broad.mit.edu	37	3	38936227	38936227	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr3:38936227T>C	ENST00000302328.3	-	15	2830	c.2632A>G	c.(2632-2634)Aaa>Gaa	p.K878E	SCN11A_ENST00000450244.1_Missense_Mutation_p.K878E|SCN11A_ENST00000444237.2_Missense_Mutation_p.K878E|SCN11A_ENST00000456224.3_Missense_Mutation_p.K878E	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	878					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATGATGTCTTTGCTTTGTGCA	0.502																																						uc011ays.1		NA																	0				skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9						c.(2632-2634)AAA>GAA		sodium channel, voltage-gated, type XI, alpha	Cocaine(DB00907)						115.0	110.0	112.0					3																	38936227		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38936227T>C	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.2632A>G	3.37:g.38936227T>C	ENSP00000307599:p.Lys878Glu					SCN11A_uc010hhn.1_5'UTR	p.K878E	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	15	2831	-			878					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.2632A>G	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	T	8.648	0.897489	0.17686	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73	5.68	1.62	0.23740	Sodium ion transport-associated (1);	1.615640	0.03521	N	0.221030	T	0.74846	0.3770	L	0.39633	1.23	0.09310	N	1	P	0.47484	0.896	P	0.45660	0.489	T	0.63902	-0.6532	10	0.02654	T	1	.	3.1908	0.06616	0.126:0.0749:0.2602:0.5389	.	878	Q9UI33	SCNBA_HUMAN	E	878	ENSP00000307599:K878E;ENSP00000400945:K878E;ENSP00000416757:K878E;ENSP00000408028:K878E	ENSP00000307599:K878E	K	-	1	0	SCN11A	38911231	0.000000	0.05858	0.096000	0.21009	0.034000	0.12701	0.397000	0.20883	0.960000	0.38005	0.528000	0.53228	AAA		0.502	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		14	83	0	0	0	0	14	83				
ROBO1	6091	broad.mit.edu	37	3	78700882	78700882	+	Splice_Site	SNP	C	C	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr3:78700882C>T	ENST00000464233.1	-	19	2925	c.2812G>A	c.(2812-2814)Gtc>Atc	p.V938I	ROBO1_ENST00000495273.1_Splice_Site_p.V902I|ROBO1_ENST00000436010.2_Splice_Site_p.V899I|ROBO1_ENST00000467549.1_Splice_Site_p.V902I	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	938					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		AAGCTAATACCTTTTCTGATA	0.363																																						uc003dqe.2		NA																	0				large_intestine(2)	2						c.(2812-2814)GTC>ATC		roundabout 1 isoform a							51.0	48.0	49.0					3																	78700882		1856	4099	5955	SO:0001630	splice_region_variant	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78700882C>T	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.2812+1G>A	3.37:g.78700882C>T						ROBO1_uc003dqb.2_Missense_Mutation_p.V899I|ROBO1_uc003dqc.2_Missense_Mutation_p.V902I|ROBO1_uc003dqd.2_Missense_Mutation_p.V902I|ROBO1_uc010hoh.2_Missense_Mutation_p.V130I|ROBO1_uc011bgl.1_Missense_Mutation_p.V510I	p.V938I	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	19	3020	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	938			Cytoplasmic (Potential).		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.2812G>A	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.139836	0.77775	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.62788	0.09;0.07;0.0;0.1	6.08	6.08	0.98989	.	0.051984	0.85682	D	0.000000	T	0.77130	0.4085	M	0.75777	2.31	0.80722	D	1	B;D;P;P;D	0.55605	0.373;0.972;0.514;0.949;0.968	B;P;B;P;P	0.56960	0.261;0.621;0.115;0.776;0.81	T	0.74878	-0.3514	9	.	.	.	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	902;938;902;902;899	Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	I	899;902;938;902;902;942	ENSP00000406043:V899I;ENSP00000420321:V938I;ENSP00000420637:V902I;ENSP00000417992:V902I	.	V	-	1	0	ROBO1	78783572	1.000000	0.71417	1.000000	0.80357	0.169000	0.22640	7.487000	0.81328	2.894000	0.99253	0.655000	0.94253	GTC;GTA;GTC;GTA;GTA;GTC		0.363	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941	Missense_Mutation	9	25	0	0	0	0	9	25				
ABI3BP	25890	broad.mit.edu	37	3	100489651	100489651	+	Silent	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr3:100489651G>A	ENST00000284322.5	-	29	2653	c.2544C>T	c.(2542-2544)acC>acT	p.T848T	ABI3BP_ENST00000383691.4_Silent_p.T802T|ABI3BP_ENST00000471714.1_Silent_p.T1550T	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	848	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						ACCCTTCCACGGTGACCACAG	0.537																																						uc003dun.2		NA																	0				ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4						c.(2542-2544)ACC>ACT		ABI gene family, member 3 (NESH) binding protein							187.0	197.0	194.0					3																	100489651		1998	4174	6172	SO:0001819	synonymous_variant	25890					extracellular space		g.chr3:100489651G>A	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.2544C>T	3.37:g.100489651G>A						ABI3BP_uc003duj.2_Silent_p.T428T|ABI3BP_uc003duk.2_Silent_p.T557T|ABI3BP_uc003dul.2_Silent_p.T678T|ABI3BP_uc011bhd.1_Silent_p.T802T|ABI3BP_uc003dum.2_Silent_p.T259T	p.T848T	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN			29	2629	-			848			Fibronectin type-III 2.		B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Silent	SNP	ENST00000284322.5	37	c.2544C>T	CCDS46880.1	.	.	.	.	.	.	.	.	.	.	G	9.387	1.074578	0.20227	.	.	ENSG00000154175	ENST00000495591	.	.	.	5.98	-12.0	0.00017	.	.	.	.	.	T	0.44953	0.1318	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58284	-0.7663	4	.	.	.	-15.93	9.2895	0.37778	0.7569:0.0711:0.0839:0.0881	.	.	.	.	L	904	.	.	P	-	2	0	ABI3BP	101972341	0.008000	0.16893	0.770000	0.31555	0.980000	0.70556	-1.168000	0.03123	-1.626000	0.01552	-0.915000	0.02750	CCG		0.537	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			18	139	0	0	0	0	18	139				
SI	6476	broad.mit.edu	37	3	164758751	164758751	+	Silent	SNP	T	T	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr3:164758751T>G	ENST00000264382.3	-	18	2198	c.2136A>C	c.(2134-2136)acA>acC	p.T712T		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	712	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GTCTTGCTACTGTTTCTCCAA	0.338										HNSCC(35;0.089)																												uc003fei.2		NA																	0				ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(2134-2136)ACA>ACC		sucrase-isomaltase	Acarbose(DB00284)						137.0	136.0	136.0					3																	164758751		2203	4300	6503	SO:0001819	synonymous_variant	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164758751T>G	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.2136A>C	3.37:g.164758751T>G		HNSCC(35;0.089)					p.T712T	NM_001041	NP_001032	P14410	SUIS_HUMAN			18	2198	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	712			Lumenal.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Silent	SNP	ENST00000264382.3	37	c.2136A>C	CCDS3196.1																																																																																				0.338	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		6	129	0	0	0	0	6	129				
IDUA	3425	broad.mit.edu	37	4	995285	995285	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr4:995285T>C	ENST00000247933.4	+	5	611	c.523T>C	c.(523-525)Tgg>Cgg	p.W175R	IDUA_ENST00000514224.1_Missense_Mutation_p.W43R|IDUA_ENST00000453894.1_Missense_Mutation_p.W128R	NM_000203.3	NP_000194.2	P35475	IDUA_HUMAN	iduronidase, alpha-L-	175					carbohydrate metabolic process (GO:0005975)|cell morphogenesis (GO:0000902)|chemical homeostasis (GO:0048878)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate catabolic process (GO:0030209)|disaccharide metabolic process (GO:0005984)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|limb morphogenesis (GO:0035108)|lysosome organization (GO:0007040)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)	coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	L-iduronidase activity (GO:0003940)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TGTTTCCAAGTGGAACTTCGA	0.602																																						uc003gby.2		NA																	0					0						c.(523-525)TGG>CGG		alpha-L-iduronidase precursor	Laronidase(DB00090)						211.0	154.0	174.0					4																	995285		2203	4300	6503	SO:0001583	missense	3425				disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity	g.chr4:995285T>C	M74715	CCDS3343.1	4p16.3	2012-10-02			ENSG00000127415	ENSG00000127415	3.2.1.76		5391	protein-coding gene	gene with protein product		252800				1832239	Standard	NM_000203		Approved	MPS1	uc003gby.3	P35475	OTTHUMG00000088901	ENST00000247933.4:c.523T>C	4.37:g.995285T>C	ENSP00000247933:p.Trp175Arg					IDUA_uc003gbz.2_RNA|IDUA_uc003gca.2_Missense_Mutation_p.W128R	p.W175R	NM_000203	NP_000194	P35475	IDUA_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		5	611	+			175					B3KWK6	Missense_Mutation	SNP	ENST00000247933.4	37	c.523T>C	CCDS3343.1	.	.	.	.	.	.	.	.	.	.	T	17.81	3.480139	0.63849	.	.	ENSG00000127415	ENST00000247933;ENST00000453894;ENST00000502910;ENST00000514192;ENST00000509948;ENST00000514224	D;D;D;D;D;D	0.97850	-4.57;-4.57;-4.57;-4.57;-4.57;-4.57	4.58	4.58	0.56647	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.98648	0.9547	M	0.86420	2.815	0.38986	D	0.95904	D;D	0.89917	1.0;1.0	D;D	0.97110	0.995;1.0	D	0.99926	1.1289	10	0.87932	D	0	-16.079	12.1963	0.54298	0.0:0.0:0.0:1.0	.	128;175	B3KWK6;P35475	.;IDUA_HUMAN	R	175;128;128;114;106;43	ENSP00000247933:W175R;ENSP00000396458:W128R;ENSP00000422952:W128R;ENSP00000423685:W114R;ENSP00000424227:W106R;ENSP00000425081:W43R	ENSP00000247933:W175R	W	+	1	0	IDUA	985285	1.000000	0.71417	1.000000	0.80357	0.282000	0.26991	7.804000	0.85993	1.823000	0.53134	0.459000	0.35465	TGG		0.602	IDUA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000201812.1	NM_000203		20	80	0	0	0	0	20	80				
FRYL	285527	broad.mit.edu	37	4	48523117	48523117	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr4:48523117T>C	ENST00000503238.1	-	52	7636	c.7637A>G	c.(7636-7638)gAg>gGg	p.E2546G	FRYL_ENST00000358350.4_Missense_Mutation_p.E2546G|FRYL_ENST00000537810.1_Missense_Mutation_p.E2546G|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000264319.7_5'UTR			O94915	FRYL_HUMAN	FRY-like	2546					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AGTTGGGGTCTCATCCCTGAT	0.502																																						uc003gyh.1		NA																	0				skin(1)	1						c.(7636-7638)GAG>GGG		furry-like							109.0	105.0	106.0					4																	48523117		1884	4118	6002	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48523117T>C	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.7637A>G	4.37:g.48523117T>C	ENSP00000426064:p.Glu2546Gly					FRYL_uc003gyf.1_5'Flank|FRYL_uc003gyg.1_Missense_Mutation_p.E1242G|FRYL_uc003gyi.1_Missense_Mutation_p.E1434G|FRYL_uc003gyj.1_Missense_Mutation_p.E841G	p.E2546G	NM_015030	NP_055845	O94915	FRYL_HUMAN			55	8242	-			2546					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.7637A>G	CCDS43227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.65|10.65	1.409351|1.409351	0.25378|0.25378	.|.	.|.	ENSG00000075539|ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810|ENST00000514617	T;T;T|.	0.24151|.	1.87;1.87;1.87|.	5.73|5.73	4.55|4.55	0.56014|0.56014	.|.	0.222293|.	0.44688|.	N|.	0.000422|.	T|.	0.62792|.	0.2457|.	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.01281|.	0.0;0.0;0.0|.	T|.	0.59747|.	-0.7396|.	10|.	0.24483|.	T|.	0.36|.	.|.	11.5731|11.5731	0.50845|0.50845	0.0:0.0698:0.0:0.9302|0.0:0.0698:0.0:0.9302	.|.	1376;2546;2546|.	Q6ZR29;O94915;F5GX82|.	.;FRYL_HUMAN;.|.	G|W	2546|1415	ENSP00000426064:E2546G;ENSP00000351113:E2546G;ENSP00000441114:E2546G|.	ENSP00000351113:E2546G|.	E|X	-|-	2|3	0|0	FRYL|FRYL	48217874|48217874	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.050000|0.050000	0.14768|0.14768	3.936000|3.936000	0.56568|0.56568	1.008000|1.008000	0.39264|0.39264	0.460000|0.460000	0.39030|0.39030	GAG|TGA		0.502	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			7	69	0	0	0	0	7	69				
EPHA5	2044	broad.mit.edu	37	4	66270095	66270095	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr4:66270095C>T	ENST00000273854.3	-	8	2387	c.1787G>A	c.(1786-1788)gGa>gAa	p.G596E	EPHA5_ENST00000432638.2_Missense_Mutation_p.G433E|EPHA5_ENST00000354839.4_Missense_Mutation_p.G596E|EPHA5_ENST00000511294.1_Missense_Mutation_p.G597E	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	596					axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CTCTTACCTTCCACTGAGGAG	0.483										TSP Lung(17;0.13)																												uc003hcy.2		NA																	0				lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						c.(1786-1788)GGA>GAA		ephrin receptor EphA5 isoform a precursor							105.0	90.0	95.0					4																	66270095		2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66270095C>T	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1787G>A	4.37:g.66270095C>T	ENSP00000273854:p.Gly596Glu	TSP Lung(17;0.13)				EPHA5_uc003hcx.2_Missense_Mutation_p.G528E|EPHA5_uc003hcz.2_Missense_Mutation_p.G596E|EPHA5_uc011cah.1_Missense_Mutation_p.G597E|EPHA5_uc011cai.1_Missense_Mutation_p.G597E|EPHA5_uc003hda.2_Missense_Mutation_p.G597E	p.G596E	NM_004439	NP_004430	P54756	EPHA5_HUMAN			8	1980	-			596			Cytoplasmic (Potential).		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.1787G>A	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.531932	0.64972	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.10573	2.86;2.86;2.92;2.86	4.95	4.95	0.65309	.	0.000000	0.56097	D	0.000037	T	0.13114	0.0318	N	0.08118	0	0.54753	D	0.999988	D;D;D;D	0.65815	0.987;0.99;0.978;0.995	P;P;P;P	0.59546	0.599;0.702;0.774;0.859	T	0.42032	-0.9475	10	0.15952	T	0.53	.	18.5518	0.91068	0.0:1.0:0.0:0.0	.	597;597;596;596	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	E	596;433;596;597	ENSP00000273854:G596E;ENSP00000389208:G433E;ENSP00000346899:G596E;ENSP00000427638:G597E	ENSP00000273854:G596E	G	-	2	0	EPHA5	65952690	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.480000	0.73604	2.457000	0.83068	0.650000	0.86243	GGA		0.483	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		5	31	0	0	0	0	5	31				
FRAS1	80144	broad.mit.edu	37	4	79460498	79460498	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr4:79460498T>A	ENST00000264895.6	+	73	11789	c.11349T>A	c.(11347-11349)ttT>ttA	p.F3783L		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3779					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATGTGCCTTTTGAGGCTCACT	0.418																																						uc003hlb.2		NA																	0				large_intestine(5)	5						c.(11347-11349)TTT>TTA		Fraser syndrome 1							151.0	149.0	150.0					4																	79460498		1917	4141	6058	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79460498T>A	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.11349T>A	4.37:g.79460498T>A	ENSP00000264895:p.Phe3783Leu						p.F3783L	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			73	11789	+			3778			Extracellular (Potential).		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.11349T>A	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.9|25.9	4.686225|4.686225	0.88639|0.88639	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	T|.	0.68331|.	-0.32|.	5.87|5.87	-0.797|-0.797	0.10909|0.10909	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61578|.	0.2358|.	M|M	0.67517|0.67517	2.055|2.055	0.80722|0.80722	D|D	1|1	D|.	0.71674|.	0.998|.	D|.	0.77557|.	0.99|.	T|.	0.58929|.	-0.7549|.	10|.	0.87932|.	D|.	0|.	.|.	10.1387|10.1387	0.42723|0.42723	0.0:0.3468:0.0:0.6532|0.0:0.3468:0.0:0.6532	.|.	3783|.	E9PHH6|.	.|.	L|R	3783|2012	ENSP00000264895:F3783L|.	ENSP00000264895:F3783L|.	F|X	+|+	3|1	2|0	FRAS1|FRAS1	79679522|79679522	0.998000|0.998000	0.40836|0.40836	0.997000|0.997000	0.53966|0.53966	0.992000|0.992000	0.81027|0.81027	0.445000|0.445000	0.21677|0.21677	-0.118000|-0.118000	0.11851|0.11851	-0.290000|-0.290000	0.09829|0.09829	TTT|TGA		0.418	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				5	133	0	0	0	0	5	133				
POU4F2	5458	broad.mit.edu	37	4	147560466	147560466	+	Silent	SNP	C	C	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr4:147560466C>T	ENST00000281321.3	+	1	422	c.174C>T	c.(172-174)ggC>ggT	p.G58G	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	58	Poly-Gly.				axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					gtggcggcggcggcggcggcg	0.761																																						uc003ikv.2		NA																	0				breast(1)	1						c.(172-174)GGC>GGT		Brn3b POU domain transcription factor							2.0	3.0	3.0					4																	147560466		1299	2806	4105	SO:0001819	synonymous_variant	5458				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr4:147560466C>T	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.174C>T	4.37:g.147560466C>T							p.G58G	NM_004575	NP_004566	Q12837	PO4F2_HUMAN			1	422	+	all_hematologic(180;0.151)		58			Poly-Gly.		B1PJR6|B2RC84|Q13883|Q14987	Silent	SNP	ENST00000281321.3	37	c.174C>T	CCDS34074.1																																																																																				0.761	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		6	8	0	0	0	0	6	8				
ARHGAP10	79658	broad.mit.edu	37	4	148800393	148800393	+	Silent	SNP	G	G	A	rs546870590	byFrequency	TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr4:148800393G>A	ENST00000336498.3	+	9	1082	c.843G>A	c.(841-843)ccG>ccA	p.P281P	ARHGAP10_ENST00000414545.2_5'Flank	NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	0					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		GGCCTGCTCCGTTTGGTTCCA	0.388													G|||	2	0.000399361	0.0	0.0	5008	,	,		17291	0.002		0.0	False		,,,				2504	0.0					uc003ilf.2		NA																	0				skin(2)|pancreas(1)|lung(1)	4						c.(841-843)CCG>CCA		Rho GTPase activating protein 10							153.0	146.0	148.0					4																	148800393		2203	4300	6503	SO:0001819	synonymous_variant	79658				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding	g.chr4:148800393G>A	BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"""Rho GTPase activating proteins"""	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.843G>A	4.37:g.148800393G>A						ARHGAP10_uc003ilg.2_5'Flank	p.P281P	NM_024605	NP_078881	A1A4S6	RHG10_HUMAN		GBM - Glioblastoma multiforme(119;0.0423)	9	843	+	all_hematologic(180;0.151)	Renal(17;0.0166)	281			PH.		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Silent	SNP	ENST00000336498.3	37	c.843G>A	CCDS34075.1																																																																																				0.388	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365005.1	NM_024605		9	66	0	0	0	0	9	66				
NPY2R	4887	broad.mit.edu	37	4	156136041	156136041	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr4:156136041C>T	ENST00000329476.3	+	2	1439	c.950C>T	c.(949-951)tCc>tTc	p.S317F	NPY2R_ENST00000506608.1_Missense_Mutation_p.S317F	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	317					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	GCCATGTGCTCCACTTTTGCC	0.527																																						uc003ioq.2		NA																	0				lung(2)|skin(1)	3						c.(949-951)TCC>TTC		neuropeptide Y receptor Y2							123.0	98.0	107.0					4																	156136041		2203	4300	6503	SO:0001583	missense	4887				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	g.chr4:156136041C>T	U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"""GPCR / Class A : Neuropeptide receptors : Y"""	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.950C>T	4.37:g.156136041C>T	ENSP00000332591:p.Ser317Phe					NPY2R_uc003ior.2_Missense_Mutation_p.S317F	p.S317F	NM_000910	NP_000901	P49146	NPY2R_HUMAN			2	1445	+	all_hematologic(180;0.24)	Renal(120;0.0854)	317			Helical; Name=7; (Potential).		Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Missense_Mutation	SNP	ENST00000329476.3	37	c.950C>T	CCDS3791.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.559109	0.65538	.	.	ENSG00000185149	ENST00000329476;ENST00000506608	T;T	0.68765	-0.35;-0.35	5.86	5.01	0.66863	GPCR, rhodopsin-like superfamily (1);	0.055479	0.85682	D	0.000000	D	0.87192	0.6116	H	0.95402	3.665	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91271	0.5044	10	0.87932	D	0	.	16.1139	0.81289	0.0:0.8661:0.1338:0.0	.	317	P49146	NPY2R_HUMAN	F	317	ENSP00000332591:S317F;ENSP00000426366:S317F	ENSP00000332591:S317F	S	+	2	0	NPY2R	156355491	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	7.818000	0.86416	1.461000	0.47929	-0.189000	0.12847	TCC		0.527	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1	NM_000910		34	57	0	0	0	0	34	57				
TPPP	11076	broad.mit.edu	37	5	665268	665268	+	Silent	SNP	G	G	A	rs536748443		TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr5:665268G>A	ENST00000360578.5	-	4	730	c.609C>T	c.(607-609)tcC>tcT	p.S203S	CEP72_ENST00000514507.1_Intron|AC026740.1_ENST00000594226.1_5'Flank	NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	203					microtubule bundle formation (GO:0001578)|microtubule polymerization (GO:0046785)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein polymerization (GO:0032273)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		GCTTGTAGCCGGACACATAGC	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		18166	0.001		0.0	False		,,,				2504	0.0					uc003jbg.3		NA																	0					0						c.(607-609)TCC>TCT		tubulin polymerization promoting protein							89.0	79.0	82.0					5																	665268		2203	4300	6503	SO:0001819	synonymous_variant	11076				microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization	nucleus|perinuclear region of cytoplasm|soluble fraction	calcium ion binding|microtubule binding	g.chr5:665268G>A	AB017016	CCDS3856.1	5p15.33	2008-02-05			ENSG00000171368	ENSG00000171368			24164	protein-coding gene	gene with protein product	"""brain specific protein p25 alpha"""	608773				10083737, 12093283, 15590652, 17105200	Standard	NM_007030		Approved	p25alpha, TPPP1, p25, TPPP/p25	uc003jbh.4	O94811	OTTHUMG00000131011	ENST00000360578.5:c.609C>T	5.37:g.665268G>A						TPPP_uc003jbh.3_Silent_p.S203S	p.S203S	NM_007030	NP_008961	O94811	TPPP_HUMAN	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)	3	1327	-		Ovarian(839;0.0563)	203						Silent	SNP	ENST00000360578.5	37	c.609C>T	CCDS3856.1																																																																																				0.657	TPPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253645.3	NM_007030		4	151	0	0	0	0	4	151				
DNAH5	1767	broad.mit.edu	37	5	13841092	13841092	+	Silent	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr5:13841092G>A	ENST00000265104.4	-	34	5736	c.5632C>T	c.(5632-5634)Ctg>Ttg	p.L1878L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1878	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTGGAACTCAGATCCCTCGTG	0.398									Kartagener syndrome																													uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(5632-5634)CTG>TTG		dynein, axonemal, heavy chain 5							163.0	151.0	155.0					5																	13841092		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13841092G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.5632C>T	5.37:g.13841092G>A							p.L1878L	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			34	5674	-	Lung NSC(4;0.00476)		1878			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.5632C>T	CCDS3882.1																																																																																				0.398	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		14	194	0	0	0	0	14	194				
WDR70	55100	broad.mit.edu	37	5	37480070	37480070	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr5:37480070T>C	ENST00000265107.4	+	8	977	c.821T>C	c.(820-822)gTg>gCg	p.V274A	WDR70_ENST00000504564.1_Missense_Mutation_p.V274A|WDR70_ENST00000510699.1_3'UTR	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	274							enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGTATATTGTGGACATGGCC	0.338																																						uc003jkv.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(820-822)GTG>GCG		WD repeat domain 70							158.0	152.0	154.0					5																	37480070		2203	4300	6503	SO:0001583	missense	55100							g.chr5:37480070T>C	BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"""WD repeat domain containing"""	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.821T>C	5.37:g.37480070T>C	ENSP00000265107:p.Val274Ala					WDR70_uc010iva.1_Missense_Mutation_p.V274A	p.V274A	NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		8	879	+	all_lung(31;0.000285)		274					Q9H053	Missense_Mutation	SNP	ENST00000265107.4	37	c.821T>C	CCDS34147.1	.	.	.	.	.	.	.	.	.	.	T	16.52	3.147605	0.57151	.	.	ENSG00000082068	ENST00000265107;ENST00000504564	T;D	0.86769	5.05;-2.17	5.66	5.66	0.87406	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.067775	0.64402	D	0.000017	T	0.81578	0.4852	L	0.48642	1.525	0.80722	D	1	B;P	0.43788	0.264;0.817	B;B	0.36666	0.186;0.23	T	0.79936	-0.1593	10	0.15499	T	0.54	-31.9828	15.9009	0.79377	0.0:0.0:0.0:1.0	.	274;274	D6RIW8;Q9NW82	.;WDR70_HUMAN	A	274	ENSP00000265107:V274A;ENSP00000425841:V274A	ENSP00000265107:V274A	V	+	2	0	WDR70	37515827	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.470000	0.80973	2.173000	0.68751	0.533000	0.62120	GTG		0.338	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	NM_018034		4	140	0	0	0	0	4	140				
PTGER4	5734	broad.mit.edu	37	5	40681848	40681848	+	Silent	SNP	C	C	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr5:40681848C>G	ENST00000302472.3	+	2	1777	c.753C>G	c.(751-753)ctC>ctG	p.L251L		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	251					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	TGCCGCGCCTCAGCGACTTTC	0.721																																						uc003jlz.2		NA																	0				lung(2)	2						c.(751-753)CTC>CTG		prostaglandin E receptor 4, subtype EP4							10.0	12.0	11.0					5																	40681848		2039	3986	6025	SO:0001819	synonymous_variant	5734				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity	g.chr5:40681848C>G	L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"""GPCR / Class A : Prostanoid receptors"""	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.753C>G	5.37:g.40681848C>G							p.L251L	NM_000958	NP_000949	P35408	PE2R4_HUMAN			2	1345	+			251			Cytoplasmic (Potential).		Q3MJ87	Silent	SNP	ENST00000302472.3	37	c.753C>G	CCDS3930.1																																																																																				0.721	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211578.2	NM_000958		3	58	0	0	0	0	3	58				
C6	729	broad.mit.edu	37	5	41159295	41159295	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr5:41159295T>C	ENST00000263413.3	-	12	2009	c.1745A>G	c.(1744-1746)aAg>aGg	p.K582R	C6_ENST00000337836.5_Missense_Mutation_p.K582R|C6_ENST00000475349.1_5'Flank	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	582	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TCTCGATCTCTTATAAGTAGC	0.507																																						uc003jmk.2		NA																	0				ovary(3)|central_nervous_system(2)|skin(2)	7						c.(1744-1746)AAG>AGG		complement component 6 precursor							90.0	95.0	93.0					5																	41159295		2203	4300	6503	SO:0001583	missense	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41159295T>C	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1745A>G	5.37:g.41159295T>C	ENSP00000263413:p.Lys582Arg					C6_uc003jml.1_Missense_Mutation_p.K582R	p.K582R	NM_000065	NP_000056	P13671	CO6_HUMAN			12	1955	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	582			TSP type-1 3.			Missense_Mutation	SNP	ENST00000263413.3	37	c.1745A>G	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	T	8.236	0.805836	0.16467	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.18174	2.23;2.23	5.23	1.51	0.23008	.	0.489442	0.25294	N	0.031701	T	0.09069	0.0224	N	0.17922	0.545	0.31813	N	0.626923	B	0.19817	0.039	B	0.25140	0.058	T	0.21314	-1.0249	10	0.23891	T	0.37	-9.9704	4.9841	0.14182	0.0:0.242:0.1444:0.6136	.	582	P13671	CO6_HUMAN	R	582	ENSP00000338861:K582R;ENSP00000263413:K582R	ENSP00000263413:K582R	K	-	2	0	C6	41195052	1.000000	0.71417	0.945000	0.38365	0.015000	0.08874	0.629000	0.24538	0.175000	0.19841	0.528000	0.53228	AAG		0.507	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			85	71	0	0	0	0	85	71				
MAP1B	4131	broad.mit.edu	37	5	71493969	71493969	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr5:71493969A>G	ENST00000296755.7	+	5	5085	c.4787A>G	c.(4786-4788)cAa>cGa	p.Q1596R		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1596					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TCTGTTGTGCAAACACCTACC	0.468																																					Melanoma(17;367 822 11631 31730 47712)	uc003kbw.3		NA																	0				large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5						c.(4786-4788)CAA>CGA		microtubule-associated protein 1B							115.0	103.0	107.0					5																	71493969		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71493969A>G	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.4787A>G	5.37:g.71493969A>G	ENSP00000296755:p.Gln1596Arg					MAP1B_uc010iyw.1_Missense_Mutation_p.Q1613R|MAP1B_uc010iyx.1_Missense_Mutation_p.Q1470R|MAP1B_uc010iyy.1_Missense_Mutation_p.Q1470R	p.Q1596R	NM_005909	NP_005900	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	5028	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1596					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.4787A>G	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	A	16.02	3.004891	0.54254	.	.	ENSG00000131711	ENST00000296755	T	0.05786	3.39	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000011	T	0.15522	0.0374	L	0.29908	0.895	0.58432	D	0.999999	D;D	0.69078	0.997;0.997	D;D	0.75484	0.986;0.986	T	0.02042	-1.1224	10	0.56958	D	0.05	-17.0606	15.0421	0.71799	1.0:0.0:0.0:0.0	.	1470;1596	A2BDK6;P46821	.;MAP1B_HUMAN	R	1596	ENSP00000296755:Q1596R	ENSP00000296755:Q1596R	Q	+	2	0	MAP1B	71529725	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.339000	0.96797	1.971000	0.57363	0.260000	0.18958	CAA		0.468	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		15	94	0	0	0	0	15	94				
HOMER1	9456	broad.mit.edu	37	5	78752757	78752757	+	Silent	SNP	A	A	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr5:78752757A>G	ENST00000334082.6	-	2	1532	c.90T>C	c.(88-90)caT>caC	p.H30H	HOMER1_ENST00000535690.1_Intron|HOMER1_ENST00000282260.6_Silent_p.H30H|HOMER1_ENST00000508576.1_Silent_p.H30H	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	30	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				behavioral response to cocaine (GO:0048148)|chemical homeostasis within a tissue (GO:0048875)|circadian rhythm (GO:0007623)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of signal transduction (GO:0009967)|protein localization to synapse (GO:0035418)|regulation of calcium ion import (GO:0090279)|regulation of cation channel activity (GO:2001257)|regulation of store-operated calcium entry (GO:2001256)|response to calcium ion (GO:0051592)|response to nicotine (GO:0035094)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell junction (GO:0030054)|costamere (GO:0043034)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|signaling adaptor activity (GO:0035591)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		CAGTAACTGCATGCTTGCTGG	0.418																																						uc003kfy.2		NA																	0					0						c.(88-90)CAT>CAC		homer 1							225.0	214.0	217.0					5																	78752757		1911	4123	6034	SO:0001819	synonymous_variant	9456				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane		g.chr5:78752757A>G	BC015502	CCDS43335.1, CCDS64188.1, CCDS64189.1	5q14.2	2008-02-05			ENSG00000152413	ENSG00000152413			17512	protein-coding gene	gene with protein product		604798				9808459, 9808458	Standard	NM_004272		Approved	Ves-1, SYN47, HOMER-1B	uc003kfy.4	Q86YM7	OTTHUMG00000134278	ENST00000334082.6:c.90T>C	5.37:g.78752757A>G						HOMER1_uc010jab.2_Silent_p.H30H|HOMER1_uc010jac.2_Silent_p.H30H|HOMER1_uc010jad.2_Intron	p.H30H	NM_004272	NP_004263	Q86YM7	HOME1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)	2	1193	-		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)	30			WH1.		B2R688|O96003|Q86YM5	Silent	SNP	ENST00000334082.6	37	c.90T>C	CCDS43335.1																																																																																				0.418	HOMER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258856.1	NM_004272		11	128	0	0	0	0	11	128				
FBN2	2201	broad.mit.edu	37	5	127800510	127800510	+	Missense_Mutation	SNP	G	G	A	rs146941428		TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr5:127800510G>A	ENST00000508053.1	-	12	1707	c.733C>T	c.(733-735)Cgg>Tgg	p.R245W	FBN2_ENST00000262464.4_Missense_Mutation_p.R245W|FBN2_ENST00000508989.1_Missense_Mutation_p.R212W			P35556	FBN2_HUMAN	fibrillin 2	245	TB 1.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.R245W(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CCCCACGCCCGTCCAATGGTG	0.607																																						uc003kuu.2		NA																	2	Substitution - Missense(2)		NS(2)	ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(733-735)CGG>TGG		fibrillin 2 precursor		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	89.0	83.0	85.0		733	0.4	0.5	5	dbSNP_134	85	0,8600		0,0,4300	no	missense	FBN2	NM_001999.3	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	245/2913	127800510	1,13005	2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127800510G>A	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.733C>T	5.37:g.127800510G>A	ENSP00000424571:p.Arg245Trp					FBN2_uc003kuv.2_Missense_Mutation_p.R212W|FBN2_uc003kuw.3_Missense_Mutation_p.R245W|FBN2_uc003kux.1_Missense_Mutation_p.R245W	p.R245W	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	6	1172	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	245			TB 1.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.733C>T	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.456364	0.63401	2.27E-4	0.0	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989;ENST00000502468	D;D;D;D	0.93763	-3.28;-3.28;-3.28;-3.28	4.82	0.411	0.16392	Matrix fibril-associated (3);TGF-beta binding (1);	0.093351	0.45361	D	0.000368	D	0.94265	0.8158	L	0.44542	1.39	0.47819	D	0.999522	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.81914	0.977;0.995;0.975;0.91	D	0.93394	0.6754	10	0.87932	D	0	.	14.2154	0.65790	0.0:0.0:0.4911:0.5089	.	212;245;212;245	P35556-2;E9PHW4;D6RJI3;P35556	.;.;.;FBN2_HUMAN	W	245;245;212;245	ENSP00000262464:R245W;ENSP00000424571:R245W;ENSP00000425596:R212W;ENSP00000424753:R245W	ENSP00000262464:R245W	R	-	1	2	FBN2	127828409	0.998000	0.40836	0.455000	0.27031	0.700000	0.40528	2.703000	0.47110	0.249000	0.21456	-0.516000	0.04426	CGG		0.607	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		6	75	0	0	0	0	6	75				
PCDHA6	56142	broad.mit.edu	37	5	140208448	140208448	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr5:140208448G>A	ENST00000529310.1	+	1	886	c.772G>A	c.(772-774)Gga>Aga	p.G258R	PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.G258R|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	258	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGACAACGGAACAACAGT	0.423																																						uc003lho.2		NA																	0				haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						c.(772-774)GGA>AGA		protocadherin alpha 6 isoform 1 precursor							94.0	88.0	90.0					5																	140208448		2203	4300	6503	SO:0001583	missense	56142				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140208448G>A	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.772G>A	5.37:g.140208448G>A	ENSP00000433378:p.Gly258Arg					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Missense_Mutation_p.G258R|PCDHA6_uc011dab.1_Missense_Mutation_p.G258R	p.G258R	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	799	+			258			Cadherin 3.|Extracellular (Potential).		O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	c.772G>A	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.614158	0.46631	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.69806	-0.43;-0.43	3.7	3.7	0.42460	Cadherin (4);Cadherin-like (1);	0.000000	0.36066	U	0.002815	D	0.86087	0.5849	H	0.94925	3.6	0.41665	D	0.989204	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.989;0.99;0.968	D	0.90999	0.4841	10	0.87932	D	0	.	15.9817	0.80114	0.0:0.0:1.0:0.0	.	258;258;258	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	R	258	ENSP00000433378:G258R;ENSP00000434113:G258R	ENSP00000434113:G258R	G	+	1	0	PCDHA6	140188632	0.984000	0.35163	0.571000	0.28486	0.227000	0.25037	5.458000	0.66679	2.055000	0.61198	0.313000	0.20887	GGA		0.423	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		11	54	0	0	0	0	11	54				
DIAPH1	1729	broad.mit.edu	37	5	140957813	140957813	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr5:140957813T>A	ENST00000398557.4	-	11	1282	c.1142A>T	c.(1141-1143)gAt>gTt	p.D381V	DIAPH1_ENST00000520569.1_Missense_Mutation_p.D327V|DIAPH1_ENST00000253811.6_Missense_Mutation_p.D381V|DIAPH1_ENST00000398566.3_Missense_Mutation_p.D372V|DIAPH1_ENST00000389054.3_Missense_Mutation_p.D381V|DIAPH1_ENST00000398562.2_Missense_Mutation_p.D372V|DIAPH1_ENST00000518047.1_Missense_Mutation_p.D372V|DIAPH1_ENST00000389057.5_Missense_Mutation_p.D372V	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	381	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGAATGTCATCCAGCCGTCC	0.433																																						uc003llb.3		NA																	0				skin(1)	1						c.(1141-1143)GAT>GTT		diaphanous 1 isoform 1							129.0	127.0	128.0					5																	140957813		2002	4168	6170	SO:0001583	missense	1729				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding	g.chr5:140957813T>A	BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"""diaphanous (Drosophila, homolog) 1"", ""diaphanous homolog 1 (Drosophila)"""	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.1142A>T	5.37:g.140957813T>A	ENSP00000381565:p.Asp381Val					DIAPH1_uc003llc.3_Missense_Mutation_p.D372V	p.D381V	NM_005219	NP_005210	O60610	DIAP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		11	1283	-			381			GBD/FH3.		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Missense_Mutation	SNP	ENST00000398557.4	37	c.1142A>T	CCDS43374.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.662951	0.88251	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047	D;D;D;D;D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86	5.68	5.68	0.88126	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	0.151699	0.42294	D	0.000732	D	0.91405	0.7288	M	0.73319	2.225	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.73380	0.972;0.98	D	0.92321	0.5866	10	0.87932	D	0	.	14.9109	0.70755	0.0:0.0:0.0:1.0	.	372;381	E9PEZ2;O60610	.;DIAP1_HUMAN	V	381;327;372;372;372;381;381;372	ENSP00000373706:D381V;ENSP00000429282:D327V;ENSP00000381570:D372V;ENSP00000373709:D372V;ENSP00000381572:D372V;ENSP00000381565:D381V;ENSP00000253811:D381V;ENSP00000428268:D372V	ENSP00000253811:D381V	D	-	2	0	DIAPH1	140937997	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.777000	0.85628	2.170000	0.68504	0.460000	0.39030	GAT		0.433	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219		17	67	0	0	0	0	17	67				
AFAP1L1	134265	broad.mit.edu	37	5	148679114	148679114	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr5:148679114T>A	ENST00000296721.4	+	2	157	c.59T>A	c.(58-60)cTc>cAc	p.L20H	AFAP1L1_ENST00000522492.1_3'UTR|AFAP1L1_ENST00000515000.1_Missense_Mutation_p.L20H	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	20						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCTCAGCCTCCTGGACCAC	0.642																																						uc003lqh.2		NA																	0				breast(1)|pancreas(1)	2						c.(58-60)CTC>CAC		actin filament associated protein 1-like 1							70.0	66.0	67.0					5																	148679114		2203	4300	6503	SO:0001583	missense	134265						protein binding	g.chr5:148679114T>A	AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510		"""Pleckstrin homology (PH) domain containing"""	26714	protein-coding gene	gene with protein product		614410					Standard	NM_152406		Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	ENST00000296721.4:c.59T>A	5.37:g.148679114T>A	ENSP00000296721:p.Leu20His					AFAP1L1_uc003lqg.3_Missense_Mutation_p.L20H|AFAP1L1_uc010jgy.2_Missense_Mutation_p.L20H	p.L20H	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	190	+			20					Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Missense_Mutation	SNP	ENST00000296721.4	37	c.59T>A	CCDS34274.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.945370	0.73672	.	.	ENSG00000157510	ENST00000296721;ENST00000515000	T;T	0.51071	0.72;0.72	4.65	4.65	0.58169	.	0.140165	0.49916	D	0.000135	T	0.67785	0.2930	M	0.74881	2.28	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.988;0.972;0.988	T	0.72827	-0.4175	10	0.87932	D	0	-20.4879	14.529	0.67912	0.0:0.0:0.0:1.0	.	20;20;20	Q8TED9-2;Q8TED9;Q8TED9-3	.;AF1L1_HUMAN;.	H	20	ENSP00000296721:L20H;ENSP00000424427:L20H	ENSP00000296721:L20H	L	+	2	0	AFAP1L1	148659307	1.000000	0.71417	1.000000	0.80357	0.558000	0.35554	7.144000	0.77357	2.072000	0.62099	0.460000	0.39030	CTC		0.642	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373443.1	NM_152406		8	35	0	0	0	0	8	35				
ZNF300	91975	broad.mit.edu	37	5	150275862	150275862	+	Silent	SNP	A	A	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr5:150275862A>G	ENST00000274599.5	-	6	1359	c.939T>C	c.(937-939)gtT>gtC	p.V313V	ZNF300_ENST00000418587.2_Silent_p.V277V|ZNF300_ENST00000446148.2_Silent_p.V329V|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000394226.2_Silent_p.V313V	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	313					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCTGATGTACAACAAGATGAA	0.388																																						uc003lsy.1		NA																	0				ovary(1)|skin(1)	2						c.(937-939)GTT>GTC		zinc finger protein 300							102.0	106.0	104.0					5																	150275862		2203	4299	6502	SO:0001819	synonymous_variant	91975				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:150275862A>G	AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"""Zinc fingers, C2H2-type"", ""-"""	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.939T>C	5.37:g.150275862A>G						IRGM_uc011dcl.1_Intron	p.V313V	NM_052860	NP_443092	Q96RE9	ZN300_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	1206	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	313			C2H2-type 2.		A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Silent	SNP	ENST00000274599.5	37	c.939T>C	CCDS4311.2																																																																																				0.388	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_052860		12	102	0	0	0	0	12	102				
ZBED9	114821	broad.mit.edu	37	6	28554347	28554347	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr6:28554347G>A	ENST00000452236.2	-	1	765	c.148C>T	c.(148-150)Ctc>Ttc	p.L50F	SCAND3_ENST00000530247.1_Intron|RP5-1186N24.3_ENST00000499525.1_RNA	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TGACGAGAGAGTTCCCTGGTA	0.507																																						uc003nlo.2		NA																	0				ovary(1)	1						c.(148-150)CTC>TTC		SCAN domain containing 3							108.0	102.0	104.0					6																	28554347		2203	4300	6503	SO:0001583	missense	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28554347G>A																												ENST00000452236.2:c.148C>T	6.37:g.28554347G>A	ENSP00000395259:p.Leu50Phe					uc003nlp.1_5'Flank	p.L50F	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN			1	766	-			50						Missense_Mutation	SNP	ENST00000452236.2	37	c.148C>T	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	G	9.269	1.045290	0.19748	.	.	ENSG00000232040	ENST00000452236	T	0.04406	3.63	3.33	-4.23	0.03789	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (2);	.	.	.	.	T	0.01353	0.0044	L	0.52126	1.63	0.09310	N	1	B	0.12013	0.005	B	0.14023	0.01	T	0.47548	-0.9109	9	0.72032	D	0.01	.	3.2917	0.06952	0.3033:0.0:0.2599:0.4368	.	50	Q6R2W3	SCND3_HUMAN	F	50	ENSP00000395259:L50F	ENSP00000395259:L50F	L	-	1	0	SCAND3	28662326	0.005000	0.15991	0.002000	0.10522	0.022000	0.10575	0.215000	0.17562	-0.776000	0.04578	-1.834000	0.00590	CTC		0.507	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			35	58	0	0	0	0	35	58				
TAF8	129685	broad.mit.edu	37	6	42036251	42036251	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr6:42036251C>A	ENST00000372977.3	+	7	704	c.686C>A	c.(685-687)cCg>cAg	p.P229Q	TAF8_ENST00000372982.4_Missense_Mutation_p.P229Q|TAF8_ENST00000465926.1_Missense_Mutation_p.P153Q|TAF8_ENST00000494547.1_Missense_Mutation_p.P229Q|TAF8_ENST00000456846.2_Missense_Mutation_p.P229Q	NM_138572.2	NP_612639.2	Q7Z7C8	TAF8_HUMAN	TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa	229					cell differentiation (GO:0030154)|inner cell mass cell proliferation (GO:0001833)|maintenance of protein location in nucleus (GO:0051457)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fat cell differentiation (GO:0045598)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|transcription factor TFIID complex (GO:0005669)				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179)			GCTCTTCTTCCGTCTGAACTG	0.512																																						uc003ors.2		NA																	0				ovary(1)	1						c.(685-687)CCG>CAG		TBP-associated factor 8							241.0	242.0	242.0					6																	42036251		2041	4212	6253	SO:0001583	missense	129685				cell differentiation|maintenance of protein location in nucleus|positive regulation of transcription, DNA-dependent|regulation of fat cell differentiation|transcription, DNA-dependent	perinuclear region of cytoplasm|transcription factor TFIID complex	DNA binding|protein binding	g.chr6:42036251C>A	AK057383	CCDS43462.1	6p21.1	2008-10-23	2007-07-30	2007-07-30	ENSG00000137413	ENSG00000137413			17300	protein-coding gene	gene with protein product		609514	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 45/50kDa"", ""taube nuss homolog (mouse)"""	TBN			Standard	NM_138572		Approved	FLJ32821, TAF(II)43	uc003ors.3	Q7Z7C8	OTTHUMG00000014692	ENST00000372977.3:c.686C>A	6.37:g.42036251C>A	ENSP00000362068:p.Pro229Gln					TAF8_uc003ort.2_Missense_Mutation_p.P229Q|TAF8_uc003oru.1_Missense_Mutation_p.P229Q|TAF8_uc003orv.1_Missense_Mutation_p.P229Q|TAF8_uc011dun.1_Missense_Mutation_p.P153Q	p.P229Q	NM_138572	NP_612639	Q7Z7C8	TAF8_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179)		7	715	+	Colorectal(47;0.196)		229					Q5T0K1|Q8N4R9|Q96M52	Missense_Mutation	SNP	ENST00000372977.3	37	c.686C>A	CCDS43462.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.467036	0.84533	.	.	ENSG00000137413	ENST00000456846;ENST00000494547;ENST00000372982;ENST00000372977;ENST00000465926	.	.	.	6.06	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.71256	0.3318	M	0.71036	2.16	0.80722	D	1	D;D;D;D	0.71674	0.992;0.992;0.998;0.986	P;P;P;P	0.62382	0.818;0.884;0.901;0.769	T	0.73503	-0.3962	9	0.72032	D	0.01	-22.556	15.4416	0.75187	0.0:0.9319:0.0:0.0681	.	153;229;229;229	B4DZU5;Q7Z7C8-2;Q7Z7C8-4;Q7Z7C8	.;.;.;TAF8_HUMAN	Q	229;229;229;229;153	.	ENSP00000362068:P229Q	P	+	2	0	TAF8	42144229	1.000000	0.71417	0.427000	0.26684	0.989000	0.77384	7.466000	0.80914	2.882000	0.98803	0.655000	0.94253	CCG		0.512	TAF8-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000357901.1	NM_138572		6	261	1	0	0.00198382	0.00473282	6	261				
TCTE1	202500	broad.mit.edu	37	6	44247948	44247948	+	Silent	SNP	A	A	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr6:44247948A>T	ENST00000371505.4	-	5	1598	c.1476T>A	c.(1474-1476)acT>acA	p.T492T	TCTE1_ENST00000371504.1_Silent_p.T189T|TCTE1_ENST00000371503.3_Silent_p.T189T|RP11-444E17.6_ENST00000505802.1_Intron|TMEM151B_ENST00000438774.2_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	492										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGCCATTGGCAGTTATGGTTG	0.577																																						uc003oxi.2		NA																	0				ovary(2)|skin(2)	4						c.(1474-1476)ACT>ACA		t-complex-associated testis expressed 1							101.0	111.0	108.0					6																	44247948		2203	4300	6503	SO:0001819	synonymous_variant	202500							g.chr6:44247948A>T	BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.1476T>A	6.37:g.44247948A>T						SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	p.T492T	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		5	1632	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		492					B4DX59|Q8IYS6	Silent	SNP	ENST00000371505.4	37	c.1476T>A	CCDS4910.1																																																																																				0.577	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040736.1	NM_182539		22	120	0	0	0	0	22	120				
IBTK	25998	broad.mit.edu	37	6	82950154	82950154	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr6:82950154T>C	ENST00000306270.7	-	2	599	c.50A>G	c.(49-51)cAt>cGt	p.H17R	IBTK_ENST00000510291.1_Missense_Mutation_p.H17R|IBTK_ENST00000503631.1_Missense_Mutation_p.H17R	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	17					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		ATCCAAAGCATGCTTCAGGGA	0.408																																						uc003pjl.1		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(49-51)CAT>CGT		inhibitor of Bruton's tyrosine kinase							144.0	138.0	140.0					6																	82950154		2203	4300	6503	SO:0001583	missense	25998				negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity	g.chr6:82950154T>C	AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	17853	protein-coding gene	gene with protein product		606457	"""Bruton agammaglobulinemia tyrosine kinase inhibitor"""	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.50A>G	6.37:g.82950154T>C	ENSP00000305721:p.His17Arg					IBTK_uc011dyv.1_Missense_Mutation_p.H17R|IBTK_uc011dyw.1_Missense_Mutation_p.H17R|IBTK_uc010kbi.1_5'UTR|IBTK_uc003pjm.2_Missense_Mutation_p.H17R	p.H17R	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0901)	2	577	-		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)	17					Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Missense_Mutation	SNP	ENST00000306270.7	37	c.50A>G	CCDS34490.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.202798	0.79127	.	.	ENSG00000005700	ENST00000306270;ENST00000503631;ENST00000510291	T;T;T	0.28255	1.8;1.62;1.81	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.49115	0.1538	M	0.74881	2.28	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.91635	0.991;0.996;0.999;0.996	T	0.53634	-0.8411	10	0.62326	D	0.03	-17.5751	16.0962	0.81127	0.0:0.0:0.0:1.0	.	17;17;17;17	E9PDR5;E7EPI0;Q9P2D0-2;Q9P2D0	.;.;.;IBTK_HUMAN	R	17	ENSP00000305721:H17R;ENSP00000422762:H17R;ENSP00000426405:H17R	ENSP00000305721:H17R	H	-	2	0	IBTK	83006873	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.671000	0.83941	2.207000	0.71202	0.459000	0.35465	CAT		0.408	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2	NM_015525		13	130	0	0	0	0	13	130				
GPRC6A	222545	broad.mit.edu	37	6	117127648	117127648	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr6:117127648G>T	ENST00000310357.3	-	3	1241	c.1220C>A	c.(1219-1221)gCt>gAt	p.A407D	GPRC6A_ENST00000368549.3_Missense_Mutation_p.A407D|GPRC6A_ENST00000530250.1_Intron	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	407					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TCCTGGCTCAGCATAGTCCCA	0.463																																						uc003pxj.1		NA																	0				ovary(4)|skin(2)	6						c.(1219-1221)GCT>GAT		G protein-coupled receptor, family C, group 6,							122.0	108.0	113.0					6																	117127648		2203	4299	6502	SO:0001583	missense	222545				response to amino acid stimulus		G-protein coupled receptor activity	g.chr6:117127648G>T	AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.1220C>A	6.37:g.117127648G>T	ENSP00000309493:p.Ala407Asp					GPRC6A_uc003pxk.1_Intron|GPRC6A_uc003pxl.1_Missense_Mutation_p.A407D	p.A407D	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)	3	1242	-		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	407			Extracellular (Potential).		Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	ENST00000310357.3	37	c.1220C>A	CCDS5112.1	.	.	.	.	.	.	.	.	.	.	G	9.795	1.179058	0.21787	.	.	ENSG00000173612	ENST00000310357;ENST00000368549	D;D	0.86164	-1.64;-2.08	5.48	4.62	0.57501	Extracellular ligand-binding receptor (1);	0.528174	0.17294	N	0.179533	T	0.72510	0.3469	L	0.43152	1.355	0.09310	N	0.999999	B;P	0.44690	0.355;0.841	B;B	0.43123	0.135;0.409	T	0.66771	-0.5839	10	0.48119	T	0.1	.	6.0655	0.19862	0.3014:0.0:0.6986:0.0	.	407;407	Q5T6X5-3;Q5T6X5	.;GPC6A_HUMAN	D	407	ENSP00000309493:A407D;ENSP00000357537:A407D	ENSP00000309493:A407D	A	-	2	0	GPRC6A	117234341	0.004000	0.15560	0.893000	0.35052	0.350000	0.29205	1.469000	0.35343	1.552000	0.49463	0.650000	0.86243	GCT		0.463	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2			7	51	1	0	0.00307968	0.00730549	7	51				
HIVEP2	3097	broad.mit.edu	37	6	143093537	143093537	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr6:143093537G>A	ENST00000367604.1	-	4	2978	c.2339C>T	c.(2338-2340)gCc>gTc	p.A780V	HIVEP2_ENST00000367603.2_Missense_Mutation_p.A780V|HIVEP2_ENST00000012134.2_Missense_Mutation_p.A780V			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	780					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(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TGAATCAATGGCTGAAGGTGA	0.512																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	uc003qjd.2		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(2338-2340)GCC>GTC		human immunodeficiency virus type I enhancer							71.0	78.0	76.0					6																	143093537		2048	4195	6243	SO:0001583	missense	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143093537G>A	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.2339C>T	6.37:g.143093537G>A	ENSP00000356576:p.Ala780Val						p.A780V	NM_006734	NP_006725	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	5	3082	-			780					Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	c.2339C>T	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	G	8.109	0.778397	0.16120	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.36340	1.26;1.26;1.26	5.55	1.5	0.22942	.	0.703054	0.15171	N	0.276626	T	0.04363	0.0120	N	0.03608	-0.345	0.09310	N	1	B	0.14012	0.009	B	0.09377	0.004	T	0.44128	-0.9348	10	0.21014	T	0.42	-9.0585	6.614	0.22766	0.1505:0.2775:0.572:0.0	.	780	P31629	ZEP2_HUMAN	V	780	ENSP00000356576:A780V;ENSP00000356575:A780V;ENSP00000012134:A780V	ENSP00000012134:A780V	A	-	2	0	HIVEP2	143135230	0.029000	0.19370	0.001000	0.08648	0.740000	0.42216	2.122000	0.41987	0.285000	0.22329	0.591000	0.81541	GCC		0.512	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			13	64	0	0	0	0	13	64				
PLEKHG1	57480	broad.mit.edu	37	6	151121855	151121855	+	Splice_Site	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr6:151121855G>A	ENST00000358517.2	+	6	841	c.630G>A	c.(628-630)agG>agA	p.R210R	PLEKHG1_ENST00000367328.1_Splice_Site_p.R210R			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	210	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CTTCCTGCAGGTCCGTGGCTG	0.428																																						uc003qny.1		NA																	0				ovary(2)	2						c.(628-630)AGG>AGA		pleckstrin homology domain containing, family G							99.0	96.0	97.0					6																	151121855		2203	4300	6503	SO:0001630	splice_region_variant	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151121855G>A	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.630-1G>A	6.37:g.151121855G>A						PLEKHG1_uc011eel.1_Silent_p.R250R|PLEKHG1_uc011eem.1_Silent_p.R269R|PLEKHG1_uc003qnz.2_Silent_p.R210R	p.R210R	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	7	942	+			210			DH.		Q5T1F2	Silent	SNP	ENST00000358517.2	37	c.630G>A	CCDS34552.1																																																																																				0.428	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1		Silent	6	55	0	0	0	0	6	55				
CYTH3	9265	broad.mit.edu	37	7	6213353	6213353	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr7:6213353T>C	ENST00000350796.3	-	6	516	c.380A>G	c.(379-381)aAt>aGt	p.N127S	Y_RNA_ENST00000458975.1_RNA|CYTH3_ENST00000396741.2_5'Flank|CYTH3_ENST00000488964.1_5'Flank	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	127	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				establishment of epithelial cell polarity (GO:0090162)|Golgi vesicle transport (GO:0048193)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						AACTTTAATATTAAATTCATC	0.358																																						uc003spt.2		NA																	0					0						c.(379-381)AAT>AGT		cytohesin 3							70.0	71.0	70.0					7																	6213353		2203	4300	6503	SO:0001583	missense	9265				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr7:6213353T>C	AJ223957	CCDS5346.1	7p22.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000008256	ENSG00000008256		"""Pleckstrin homology (PH) domain containing"""	9504	protein-coding gene	gene with protein product		605081	"""pleckstrin homology, Sec7 and coiled-coil domains 3"""	PSCD3		9072969	Standard	NM_004227		Approved	GRP1, ARNO3, cytohesin-3	uc003spt.3	O43739	OTTHUMG00000023440	ENST00000350796.3:c.380A>G	7.37:g.6213353T>C	ENSP00000297044:p.Asn127Ser					CYTH3_uc011jws.1_5'Flank	p.N127S	NM_004227	NP_004218	O43739	CYH3_HUMAN			6	484	-			127			SEC7.		A4D2N8	Missense_Mutation	SNP	ENST00000350796.3	37	c.380A>G	CCDS5346.1	.	.	.	.	.	.	.	.	.	.	T	19.23	3.787343	0.70337	.	.	ENSG00000008256	ENST00000350796	T	0.56444	0.46	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.65811	0.2727	M	0.78049	2.395	0.80722	D	1	P	0.47034	0.889	P	0.50617	0.646	T	0.69143	-0.5223	10	0.51188	T	0.08	.	15.9795	0.80097	0.0:0.0:0.0:1.0	.	127	O43739-2	.	S	127	ENSP00000297044:N127S	ENSP00000297044:N127S	N	-	2	0	CYTH3	6179878	1.000000	0.71417	0.944000	0.38274	0.998000	0.95712	7.888000	0.87302	2.169000	0.68431	0.533000	0.62120	AAT		0.358	CYTH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207396.2	NM_004227		21	30	0	0	0	0	21	30				
ZNF479	90827	broad.mit.edu	37	7	57188428	57188428	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr7:57188428T>A	ENST00000331162.4	-	5	964	c.694A>T	c.(694-696)Aaa>Taa	p.K232*		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	232					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(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TGAATTATTTTATGTGTAGTA	0.383																																						uc010kzo.2		NA																	0				ovary(3)|skin(1)	4						c.(694-696)AAA>TAA		zinc finger protein 479							13.0	14.0	13.0					7																	57188428		1916	4139	6055	SO:0001587	stop_gained	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57188428T>A	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.694A>T	7.37:g.57188428T>A	ENSP00000333776:p.Lys232*						p.K232*	NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	965	-			232			C2H2-type 2.			Nonsense_Mutation	SNP	ENST00000331162.4	37	c.694A>T	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	t	16.03	3.007636	0.54361	.	.	ENSG00000185177	ENST00000331162	.	.	.	1.16	-2.31	0.06765	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.1847	0.06597	0.0:0.2395:0.4581:0.3024	.	.	.	.	X	232	.	ENSP00000333776:K232X	K	-	1	0	ZNF479	57192370	0.002000	0.14202	0.003000	0.11579	0.012000	0.07955	-0.694000	0.05115	-0.460000	0.07003	0.329000	0.21502	AAA		0.383	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		5	25	0	0	0	0	5	25				
LIMK1	3984	broad.mit.edu	37	7	73535347	73535347	+	Silent	SNP	C	C	T	rs55722104	byFrequency	TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr7:73535347C>T	ENST00000336180.2	+	15	1800	c.1749C>T	c.(1747-1749)acC>acT	p.T583T	LIMK1_ENST00000538333.3_Silent_p.T549T|LIMK1_ENST00000418310.1_Silent_p.T613T	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1	583	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|nervous system development (GO:0007399)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of axon extension (GO:0045773)|positive regulation of stress fiber assembly (GO:0051496)|protein phosphorylation (GO:0006468)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)	ATP binding (GO:0005524)|heat shock protein binding (GO:0031072)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)			Dabrafenib(DB08912)	TCCCCATCACCGTGCGCTGTT	0.662													C|||	2	0.000399361	0.0	0.0	5008	,	,		16775	0.0		0.002	False		,,,				2504	0.0					uc003uaa.1		NA																	0				stomach(2)|ovary(1)	3						c.(1747-1749)ACC>ACT		LIM domain kinase 1		C	,	0,4406		0,0,2203	102.0	106.0	104.0		1647,1749	-0.2	0.8	7	dbSNP_129	104	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	LIMK1	NM_001204426.1,NM_002314.3	,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,	549/614,583/648	73535347	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	3984				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding	g.chr7:73535347C>T	D26309	CCDS5563.1, CCDS56491.1	7q11.23	2005-01-21			ENSG00000106683	ENSG00000106683			6613	protein-coding gene	gene with protein product		601329				8673124, 8812460	Standard	NM_002314		Approved	LIMK	uc003uaa.2	P53667	OTTHUMG00000023448	ENST00000336180.2:c.1749C>T	7.37:g.73535347C>T						RFC2_uc011kfa.1_Intron|LIMK1_uc010lbl.1_RNA|LIMK1_uc003uab.2_Silent_p.T549T	p.T583T	NM_002314	NP_002305	P53667	LIMK1_HUMAN			15	1914	+		Lung NSC(55;0.137)	583			Protein kinase.		B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	Silent	SNP	ENST00000336180.2	37	c.1749C>T	CCDS5563.1																																																																																				0.662	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252335.2	NM_002314		41	189	0	0	0	0	41	189				
GNAT3	346562	broad.mit.edu	37	7	80091818	80091818	+	Splice_Site	SNP	C	C	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr7:80091818C>T	ENST00000398291.3	-	6	813	c.720G>A	c.(718-720)gtG>gtA	p.V240V	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	240					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of visible light (GO:0009584)|platelet activation (GO:0030168)|response to nicotine (GO:0035094)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|synaptic transmission (GO:0007268)	acrosomal vesicle (GO:0001669)|apical plasma membrane (GO:0016324)|axoneme (GO:0005930)|heterotrimeric G-protein complex (GO:0005834)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						TTAGACTTACCACTTCTTCGT	0.398																																						uc011kgu.1		NA																	0				ovary(1)	1						c.(718-720)GTG>GTA		guanine nucleotide binding protein, alpha							141.0	130.0	133.0					7																	80091818		1933	4154	6087	SO:0001630	splice_region_variant	346562				detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr7:80091818C>T		CCDS47625.1	7q21.11	2007-06-13			ENSG00000214415	ENSG00000214415			22800	protein-coding gene	gene with protein product		139395					Standard	NM_001102386		Approved	gustducin, GDCA	uc011kgu.2	A8MTJ3	OTTHUMG00000155401	ENST00000398291.3:c.720+1G>A	7.37:g.80091818C>T						CD36_uc003uhc.2_Intron	p.V240V	NM_001102386	NP_001095856	A8MTJ3	GNAT3_HUMAN			6	720	-			240					A4D1B2|A4D1B3|B9EJG5	Silent	SNP	ENST00000398291.3	37	c.720G>A	CCDS47625.1																																																																																				0.398	GNAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339909.3	XM_294370	Silent	14	93	0	0	0	0	14	93				
CUX1	1523	broad.mit.edu	37	7	101844978	101844978	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr7:101844978G>A	ENST00000292535.7	+	18	2439	c.2401G>A	c.(2401-2403)Gat>Aat	p.D801N	CUX1_ENST00000550008.2_Missense_Mutation_p.D745N|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.D699N|CUX1_ENST00000360264.3_Missense_Mutation_p.D812N|CUX1_ENST00000549414.2_Missense_Mutation_p.D779N|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.D643N|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	801					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GGGAGCAGCCGATTGTGCACA	0.672																																						uc003uyx.3		NA																	0				ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(2401-2403)GAT>AAT		cut-like homeobox 1 isoform a							20.0	25.0	23.0					7																	101844978		2203	4300	6503	SO:0001583	missense	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101844978G>A	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.2401G>A	7.37:g.101844978G>A	ENSP00000292535:p.Asp801Asn					CUX1_uc003uys.3_Missense_Mutation_p.D812N|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron	p.D801N	NM_181552	NP_853530	P39880	CUX1_HUMAN			18	2439	+			801					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	c.2401G>A	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.370707	0.42003	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T	0.59772	0.25;0.24;0.24;0.24;0.24;0.24	5.44	5.44	0.79542	.	0.252701	0.32769	N	0.005664	T	0.58061	0.2096	L	0.57536	1.79	0.80722	D	1	P;P	0.43909	0.727;0.821	B;B	0.40256	0.111;0.324	T	0.61715	-0.7006	10	0.46703	T	0.11	-9.1274	19.279	0.94044	0.0:0.0:1.0:0.0	.	801;812	P39880;P39880-3	CUX1_HUMAN;.	N	812;801;779;745;699;643	ENSP00000353401:D812N;ENSP00000292535:D801N;ENSP00000446630:D779N;ENSP00000447373:D745N;ENSP00000450125:D699N;ENSP00000451558:D643N	ENSP00000292535:D801N	D	+	1	0	CUX1	101631698	1.000000	0.71417	0.055000	0.19348	0.061000	0.15899	5.783000	0.68982	2.560000	0.86352	0.655000	0.94253	GAT		0.672	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		19	23	0	0	0	0	19	23				
GPR124	25960	broad.mit.edu	37	8	37699033	37699033	+	Silent	SNP	C	C	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr8:37699033C>T	ENST00000412232.2	+	19	3190	c.3177C>T	c.(3175-3177)tcC>tcT	p.S1059S	GPR124_ENST00000315215.7_Silent_p.S842S	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	1059					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TGGCAGCCTCCGCCCTGGGCC	0.711																																						uc003xkj.2		NA																	0				large_intestine(2)|ovary(2)|skin(1)	5						c.(3175-3177)TCC>TCT		G protein-coupled receptor 124 precursor							21.0	24.0	23.0					8																	37699033		2203	4296	6499	SO:0001819	synonymous_variant	25960				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37699033C>T	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.3177C>T	8.37:g.37699033C>T						GPR124_uc010lvy.2_Silent_p.S842S	p.S1059S	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		19	3540	+			1059			Helical; Name=7; (Potential).		A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Silent	SNP	ENST00000412232.2	37	c.3177C>T	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	C	0.276	-0.989297	0.02162	.	.	ENSG00000020181	ENST00000416514	.	.	.	5.01	-7.92	0.01160	.	.	.	.	.	T	0.50017	0.1591	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60459	-0.7259	5	0.66056	D	0.02	-24.9656	2.9285	0.05792	0.1558:0.19:0.4085:0.2456	.	.	.	.	C	1052	.	ENSP00000405145:R1052C	R	+	1	0	GPR124	37818191	0.000000	0.05858	0.444000	0.26895	0.006000	0.05464	-5.590000	0.00111	-1.291000	0.02368	-0.143000	0.13931	CGC		0.711	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			5	28	0	0	0	0	5	28				
RP1	6101	broad.mit.edu	37	8	55533931	55533931	+	Silent	SNP	G	G	A	rs200402161		TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr8:55533931G>A	ENST00000220676.1	+	2	553	c.405G>A	c.(403-405)gcG>gcA	p.A135A		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	135					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.A135A(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCATTAGCGCGCACTCACCGC	0.692													G|||	1	0.000199681	0.0	0.0	5008	,	,		9988	0.0		0.001	False		,,,				2504	0.0				Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1		NA																	1	Substitution - coding silent(1)	p.A135V(1)	prostate(1)	skin(7)|ovary(4)|pancreas(1)	12						c.(403-405)GCG>GCA		retinitis pigmentosa RP1 protein							27.0	32.0	30.0					8																	55533931		2186	4292	6478	SO:0001819	synonymous_variant	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55533931G>A	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.405G>A	8.37:g.55533931G>A						RP1_uc011ldy.1_Silent_p.A135A	p.A135A	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		2	553	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	135						Silent	SNP	ENST00000220676.1	37	c.405G>A	CCDS6160.1																																																																																				0.692	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		5	92	0	0	0	0	5	92				
RUNX1T1	862	broad.mit.edu	37	8	92972688	92972688	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr8:92972688G>A	ENST00000523629.1	-	12	2051	c.1597C>T	c.(1597-1599)Cga>Tga	p.R533*	RUNX1T1_ENST00000520724.1_Nonsense_Mutation_p.R496*|RUNX1T1_ENST00000518844.1_Nonsense_Mutation_p.R506*|RUNX1T1_ENST00000422361.2_Nonsense_Mutation_p.R496*|RUNX1T1_ENST00000396218.1_Nonsense_Mutation_p.R506*|RUNX1T1_ENST00000360348.2_Nonsense_Mutation_p.R496*|RUNX1T1_ENST00000265814.3_Nonsense_Mutation_p.R533*|RUNX1T1_ENST00000436581.2_Nonsense_Mutation_p.R544*	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	533					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R533R(1)|p.R544R(1)|p.R496R(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CCACAGTATCGGGCTGTGTTA	0.517																																						uc003yfd.2		NA																	3	Substitution - coding silent(3)		lung(3)	lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16						c.(1597-1599)CGA>TGA		acute myelogenous leukemia 1 translocation 1							74.0	69.0	70.0					8																	92972688		2203	4300	6503	SO:0001587	stop_gained	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:92972688G>A	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1597C>T	8.37:g.92972688G>A	ENSP00000428543:p.Arg533*					RUNX1T1_uc003yfc.1_Nonsense_Mutation_p.R506*|RUNX1T1_uc003yfe.1_Nonsense_Mutation_p.R496*|RUNX1T1_uc010mao.2_Nonsense_Mutation_p.R506*|RUNX1T1_uc011lgi.1_Nonsense_Mutation_p.R544*|uc010mam.2_5'Flank|RUNX1T1_uc010man.1_Nonsense_Mutation_p.R158*|RUNX1T1_uc003yfb.1_Nonsense_Mutation_p.R496*	p.R533*	NM_175634	NP_783552	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		11	1681	-			533			MYND-type.		B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Nonsense_Mutation	SNP	ENST00000523629.1	37	c.1597C>T	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.926063	0.92319	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	.	.	.	5.86	4.91	0.64330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.668	17.7086	0.88315	0.0:0.0:0.869:0.131	.	.	.	.	X	533;506;533;496;496;496;544;506	.	ENSP00000265814:R533X	R	-	1	2	RUNX1T1	93041864	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.919000	0.87513	2.777000	0.95525	0.655000	0.94253	CGA		0.517	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		30	48	0	0	0	0	30	48				
DCSTAMP	81501	broad.mit.edu	37	8	105361565	105361565	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr8:105361565A>T	ENST00000297581.2	+	2	834	c.785A>T	c.(784-786)cAg>cTg	p.Q262L	DCSTAMP_ENST00000517991.1_Missense_Mutation_p.Q262L|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	262					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											AGACATCAACAGAGGCCCTGT	0.468																																						uc003ylx.1		NA																	0				pancreas(2)|large_intestine(1)|ovary(1)	4						c.(784-786)CAG>CTG		dendritic cell-specific transmembrane protein							92.0	92.0	92.0					8																	105361565		2203	4300	6503	SO:0001583	missense	81501				osteoclast differentiation	cell surface|integral to membrane|plasma membrane		g.chr8:105361565A>T	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.785A>T	8.37:g.105361565A>T	ENSP00000297581:p.Gln262Leu						p.Q262L	NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		2	834	+			262					B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP	ENST00000297581.2	37	c.785A>T	CCDS6301.1	.	.	.	.	.	.	.	.	.	.	A	12.66	2.005164	0.35415	.	.	ENSG00000164935	ENST00000297581;ENST00000517991	T;T	0.30981	1.51;1.51	5.5	4.35	0.52113	Dendritic cell-specific transmembrane protein-like (1);	0.497827	0.23793	N	0.044516	T	0.33585	0.0868	M	0.70595	2.14	0.39772	D	0.972173	P	0.38677	0.642	B	0.40009	0.316	T	0.19516	-1.0303	9	.	.	.	-6.2178	9.5057	0.39044	0.9206:0.0:0.0794:0.0	.	262	Q9H295	TM7S4_HUMAN	L	262	ENSP00000297581:Q262L;ENSP00000428869:Q262L	.	Q	+	2	0	TM7SF4	105430741	0.996000	0.38824	0.964000	0.40570	0.485000	0.33311	3.085000	0.50151	2.094000	0.63399	0.454000	0.30748	CAG		0.468	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		13	93	0	0	0	0	13	93				
ANGPT1	284	broad.mit.edu	37	8	108264120	108264120	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr8:108264120C>T	ENST00000520734.1	-	8	1145	c.860G>A	c.(859-861)cGt>cAt	p.R287H	AP000428.1_ENST00000390706.1_RNA|ANGPT1_ENST00000518386.1_5'UTR|ANGPT1_ENST00000520052.1_Missense_Mutation_p.R286H			Q15389	ANGP1_HUMAN	angiopoietin 1	487	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell-substrate adhesion (GO:0031589)|glomerulus vasculature development (GO:0072012)|hemopoiesis (GO:0030097)|heparin biosynthetic process (GO:0030210)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of vascular permeability (GO:0043116)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|protein localization to cell surface (GO:0034394)|regulation of satellite cell proliferation (GO:0014842)|sprouting angiogenesis (GO:0002040)|Tie signaling pathway (GO:0048014)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	receptor tyrosine kinase binding (GO:0030971)	p.R487H(1)		NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			AGTTGTGGAACGTAAGGAGTA	0.428																																						uc003ymn.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(3)|skin(3)|upper_aerodigestive_tract(1)	7						c.(1459-1461)CGT>CAT		angiopoietin 1 precursor							185.0	171.0	176.0					8																	108264120		2203	4300	6503	SO:0001583	missense	284				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding	g.chr8:108264120C>T	D13628	CCDS6306.1, CCDS56551.1	8q23.1	2013-02-06			ENSG00000154188	ENSG00000154188		"""Fibrinogen C domain containing"""	484	protein-coding gene	gene with protein product		601667				9545648	Standard	NM_001146		Approved	KIAA0003, Ang1	uc003ymn.3	Q15389	OTTHUMG00000164812	ENST00000520734.1:c.860G>A	8.37:g.108264120C>T	ENSP00000430750:p.Arg287His					ANGPT1_uc011lhv.1_Missense_Mutation_p.R287H|ANGPT1_uc003ymo.2_Missense_Mutation_p.R486H	p.R487H	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)		9	1928	-	Breast(1;5.06e-08)		487			Fibrinogen C-terminal.		Q5HYA0	Missense_Mutation	SNP	ENST00000520734.1	37	c.1460G>A		.	.	.	.	.	.	.	.	.	.	C	14.55	2.568795	0.45798	.	.	ENSG00000154188	ENST00000517746;ENST00000297450;ENST00000520734;ENST00000520052	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.9	4.97	0.65823	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.046380	0.85682	N	0.000000	T	0.32734	0.0839	L	0.54965	1.715	0.80722	D	1	B;B	0.28419	0.211;0.211	B;B	0.30572	0.117;0.117	T	0.11421	-1.0588	10	0.59425	D	0.04	.	13.8354	0.63406	0.0:0.921:0.0:0.079	.	487;487	Q5HYA0;Q15389	.;ANGP1_HUMAN	H	487;486;287;286	ENSP00000428340:R487H;ENSP00000297450:R486H;ENSP00000430750:R287H;ENSP00000429349:R286H	ENSP00000297450:R486H	R	-	2	0	ANGPT1	108333296	0.999000	0.42202	1.000000	0.80357	0.395000	0.30598	2.645000	0.46621	1.377000	0.46286	0.650000	0.86243	CGT		0.428	ANGPT1-002	PUTATIVE	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000380428.2	NM_001146, NM_139290		7	147	0	0	0	0	7	147				
PKHD1L1	93035	broad.mit.edu	37	8	110455268	110455268	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr8:110455268T>C	ENST00000378402.5	+	36	4591	c.4487T>C	c.(4486-4488)aTt>aCt	p.I1496T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1496					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)			CAAGGAGTCATTAATGTTTTA	0.418										HNSCC(38;0.096)																												uc003yne.2		NA																	0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(4486-4488)ATT>ACT		fibrocystin L precursor							199.0	187.0	191.0					8																	110455268		1885	4123	6008	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110455268T>C	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.4487T>C	8.37:g.110455268T>C	ENSP00000367655:p.Ile1496Thr	HNSCC(38;0.096)					p.I1496T	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		36	4591	+			1496			Extracellular (Potential).		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.4487T>C	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	T	17.44	3.388963	0.61956	.	.	ENSG00000205038	ENST00000378402	D	0.90385	-2.66	6.16	6.16	0.99307	Cupredoxin (1);	0.138674	0.49916	D	0.000134	D	0.90823	0.7118	M	0.79926	2.475	0.30186	N	0.799991	B	0.21147	0.052	B	0.15870	0.014	D	0.87786	0.2615	10	0.72032	D	0.01	.	14.7581	0.69583	0.0:0.0:0.0:1.0	.	1496	Q86WI1	PKHL1_HUMAN	T	1496	ENSP00000367655:I1496T	ENSP00000367655:I1496T	I	+	2	0	PKHD1L1	110524444	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.668000	0.68074	2.367000	0.80283	0.528000	0.53228	ATT		0.418	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		36	210	0	0	0	0	36	210				
ADCY8	114	broad.mit.edu	37	8	131880107	131880107	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr8:131880107A>G	ENST00000286355.5	-	9	4287	c.2195T>C	c.(2194-2196)tTg>tCg	p.L732S	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	732					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)|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)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|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)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AGAAGGAAGCAAACTTTGTAT	0.343										HNSCC(32;0.087)																												uc003ytd.3		NA																	0				skin(4)|large_intestine(1)|central_nervous_system(1)	6						c.(2194-2196)TTG>TCG		adenylate cyclase 8							91.0	82.0	85.0					8																	131880107		2203	4300	6503	SO:0001583	missense	114				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	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131880107A>G	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.2195T>C	8.37:g.131880107A>G	ENSP00000286355:p.Leu732Ser	HNSCC(32;0.087)				ADCY8_uc010mds.2_Intron	p.L732S	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		9	2451	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		732			Helical; (Potential).			Missense_Mutation	SNP	ENST00000286355.5	37	c.2195T>C	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.276155	0.80580	.	.	ENSG00000155897	ENST00000286355	T	0.52983	0.64	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.57932	0.2087	L	0.58101	1.795	0.80722	D	1	D	0.60575	0.988	P	0.53912	0.737	T	0.62058	-0.6934	10	0.87932	D	0	.	14.2838	0.66232	1.0:0.0:0.0:0.0	.	732	P40145	ADCY8_HUMAN	S	732	ENSP00000286355:L732S	ENSP00000286355:L732S	L	-	2	0	ADCY8	131949289	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.465000	0.90383	2.264000	0.75181	0.533000	0.62120	TTG		0.343	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			5	44	0	0	0	0	5	44				
SPATA31A6	389730	broad.mit.edu	37	9	43627396	43627396	+	Missense_Mutation	SNP	C	C	T	rs568073464	byFrequency	TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr9:43627396C>T	ENST00000332857.6	-	4	1319	c.1291G>A	c.(1291-1293)Gcc>Acc	p.A431T	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	431					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GTTACCCAGGCGTTAGCCACC	0.488													C|||	3	0.000599042	0.0	0.0014	5008	,	,		14942	0.0		0.0	False		,,,				2504	0.002					uc011lrb.1		NA																	0					0						c.(1291-1293)GCC>ACC		hypothetical protein LOC389730							11.0	13.0	13.0					9																	43627396		612	1519	2131	SO:0001583	missense	389730					integral to membrane		g.chr9:43627396C>T		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.1291G>A	9.37:g.43627396C>T	ENSP00000329825:p.Ala431Thr						p.A431T	NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN			4	1320	-			431						Missense_Mutation	SNP	ENST00000332857.6	37	c.1291G>A	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.711276	0.48517	.	.	ENSG00000185775	ENST00000332857	T	0.08546	3.08	2.56	2.56	0.30785	.	0.309926	0.23512	N	0.047392	T	0.19685	0.0473	M	0.64170	1.965	0.09310	N	1	D	0.89917	1.0	D	0.76575	0.988	T	0.03514	-1.1029	10	0.24483	T	0.36	-16.8023	8.8215	0.35030	0.0:1.0:0.0:0.0	.	431	Q5VVP1	F75A6_HUMAN	T	431	ENSP00000329825:A431T	ENSP00000329825:A431T	A	-	1	0	FAM75A6	43567392	0.052000	0.20516	0.114000	0.21550	0.012000	0.07955	0.976000	0.29462	1.746000	0.51805	0.449000	0.29647	GCC		0.488	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		48	78	0	0	0	0	48	78				
ROR2	4920	broad.mit.edu	37	9	94486931	94486931	+	Silent	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr9:94486931G>A	ENST00000375708.3	-	9	2043	c.1845C>T	c.(1843-1845)gaC>gaT	p.D615D	ROR2_ENST00000375715.1_Silent_p.D475D|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	615	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGGTGGCCAGGTCCTTGTGAA	0.597																																						uc004arj.1		NA																	0				lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20						c.(1843-1845)GAC>GAT		receptor tyrosine kinase-like orphan receptor 2							127.0	107.0	113.0					9																	94486931		2203	4300	6503	SO:0001819	synonymous_variant	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94486931G>A	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.1845C>T	9.37:g.94486931G>A						ROR2_uc004ari.1_Silent_p.D475D	p.D615D	NM_004560	NP_004551	Q01974	ROR2_HUMAN			9	2044	-			615			Cytoplasmic (Potential).|Protein kinase.	Proton acceptor (By similarity).	Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Silent	SNP	ENST00000375708.3	37	c.1845C>T	CCDS6691.1																																																																																				0.597	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			16	105	0	0	0	0	16	105				
OMD	4958	broad.mit.edu	37	9	95179448	95179448	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr9:95179448C>G	ENST00000375550.4	-	2	668	c.393G>C	c.(391-393)aaG>aaC	p.K131N	CENPP_ENST00000375587.3_Intron	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN	osteomodulin	131					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						CATAATCAATCTTTTGAGATT	0.328			T	USP6	aneurysmal bone cysts																																	uc004asd.3		NA		Dom	yes		9	9q22.31	4958	T	osteomodulin			M	USP6		aneurysmal bone cysts		0				ovary(2)	2						c.(391-393)AAG>AAC		osteomodulin precursor							116.0	119.0	118.0					9																	95179448		2203	4300	6503	SO:0001583	missense	4958				cell adhesion	proteinaceous extracellular matrix		g.chr9:95179448C>G	AB000114	CCDS6696.1	9q22.31	2008-02-05			ENSG00000127083	ENSG00000127083		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	8134	protein-coding gene	gene with protein product	"""osteoadherin proteoglycan"""						Standard	NM_005014		Approved	osteoadherin, SLRR2C	uc004asd.4	Q99983	OTTHUMG00000020225	ENST00000375550.4:c.393G>C	9.37:g.95179448C>G	ENSP00000364700:p.Lys131Asn					CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron	p.K131N	NM_005014	NP_005005	Q99983	OMD_HUMAN			2	762	-			131					Q5TBF4	Missense_Mutation	SNP	ENST00000375550.4	37	c.393G>C	CCDS6696.1	.	.	.	.	.	.	.	.	.	.	c	13.75	2.329756	0.41297	.	.	ENSG00000127083	ENST00000375550	T	0.56941	0.43	5.41	1.54	0.23209	.	0.000000	0.64402	D	0.000001	T	0.32704	0.0838	N	0.17312	0.475	0.37186	D	0.903703	B	0.22541	0.071	B	0.25291	0.059	T	0.12993	-1.0526	10	0.54805	T	0.06	-7.5928	6.8049	0.23772	0.1249:0.6755:0.0:0.1995	.	131	Q99983	OMD_HUMAN	N	131	ENSP00000364700:K131N	ENSP00000364700:K131N	K	-	3	2	OMD	94219269	0.999000	0.42202	0.997000	0.53966	0.995000	0.86356	0.676000	0.25247	0.087000	0.17167	0.585000	0.79938	AAG		0.328	OMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053090.1	NM_005014		6	109	0	0	0	0	6	109				
SMC2	10592	broad.mit.edu	37	9	106891994	106891994	+	Silent	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr9:106891994T>C	ENST00000286398.7	+	21	3147	c.2859T>C	c.(2857-2859)agT>agC	p.S953S	SMC2_ENST00000303219.8_Silent_p.S953S|SMC2_ENST00000374793.3_Silent_p.S953S|SMC2_ENST00000374787.3_Silent_p.S953S	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	953					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						AACCCAATAGTGCCTATGATT	0.378																																						uc004bbv.2		NA																	0				ovary(4)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|breast(1)	9						c.(2857-2859)AGT>AGC		structural maintenance of chromosomes 2							128.0	137.0	134.0					9																	106891994		2203	4300	6503	SO:0001819	synonymous_variant	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106891994T>C	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.2859T>C	9.37:g.106891994T>C						SMC2_uc004bbw.2_Silent_p.S953S|SMC2_uc011lvl.1_Silent_p.S953S|SMC2_uc004bbx.2_Silent_p.S953S|SMC2_uc004bby.2_RNA	p.S953S	NM_001042551	NP_001036016	O95347	SMC2_HUMAN			21	3147	+			953					Q6IEE0|Q9P1P2	Silent	SNP	ENST00000286398.7	37	c.2859T>C	CCDS35086.1																																																																																				0.378	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			5	124	0	0	0	0	5	124				
AKAP2	11217	broad.mit.edu	37	9	112899866	112899866	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr9:112899866A>T	ENST00000259318.7	+	2	1556	c.1349A>T	c.(1348-1350)gAt>gTt	p.D450V	PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.D681V|AKAP2_ENST00000434623.2_Missense_Mutation_p.D539V|AKAP2_ENST00000510514.5_Missense_Mutation_p.D681V|AKAP2_ENST00000555236.1_Missense_Mutation_p.D681V|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.D681V|AKAP2_ENST00000374525.1_Missense_Mutation_p.D539V	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	450										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						GTCAAGGATGATGACCATGGG	0.522																																						uc004bei.2		NA																	0				ovary(3)|central_nervous_system(2)|skin(1)	6						c.(2737-2739)GAT>GTT		A kinase (PRKA) anchor protein 2 isoform 2							112.0	111.0	111.0					9																	112899866		2203	4300	6503	SO:0001583	missense	445815						enzyme binding	g.chr9:112899866A>T	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.1349A>T	9.37:g.112899866A>T	ENSP00000259318:p.Asp450Val					PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.D681V|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.D681V|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.D491V|AKAP2_uc011lwi.1_Missense_Mutation_p.D539V|AKAP2_uc004bem.2_Missense_Mutation_p.D539V|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.D499V|AKAP2_uc011lwj.1_Missense_Mutation_p.D450V|PALM2-AKAP2_uc004ben.2_Missense_Mutation_p.D450V	p.D913V	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN			9	2930	+			450					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	37	c.2738A>T	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.980163	0.74474	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.54866	1.89;1.89;1.89;1.89;1.13;0.55;0.55;1.17	5.86	5.86	0.93980	.	0.209202	0.49305	D	0.000157	T	0.58581	0.2132	L	0.27053	0.805	0.80722	D	1	D;D;D;D;D;D;D;P	0.64830	0.964;0.994;0.987;0.994;0.99;0.963;0.963;0.938	P;P;P;P;P;P;P;P	0.61800	0.786;0.894;0.726;0.894;0.786;0.79;0.79;0.621	T	0.62831	-0.6771	10	0.72032	D	0.01	-10.8748	15.4216	0.75015	1.0:0.0:0.0:0.0	.	450;539;533;539;540;681;681;499	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	V	681;681;681;681;539;539;499;450	ENSP00000363654:D681V;ENSP00000305861:D681V;ENSP00000451476:D681V;ENSP00000421522:D681V;ENSP00000404782:D539V;ENSP00000363649:D539V;ENSP00000419268:D499V;ENSP00000259318:D450V	ENSP00000259318:D450V	D	+	2	0	PALM2-AKAP2;AKAP2	111939687	1.000000	0.71417	0.952000	0.39060	0.961000	0.63080	8.650000	0.91073	2.225000	0.72522	0.533000	0.62120	GAT		0.522	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		84	87	0	0	0	0	84	87				
NAP1L3	4675	broad.mit.edu	37	X	92927421	92927421	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chrX:92927421G>T	ENST00000373079.3	-	1	1146	c.883C>A	c.(883-885)Ctt>Att	p.L295I	FAM133A_ENST00000332647.4_5'Flank|NAP1L3_ENST00000475430.2_Missense_Mutation_p.L288I|FAM133A_ENST00000322139.4_5'Flank|FAM133A_ENST00000355813.5_5'Flank|FAM133A_ENST00000538690.1_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	295					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						GCTCTTTTAAGATCTACACTG	0.433																																						uc004efq.2		NA																	0				ovary(1)|skin(1)	2						c.(883-885)CTT>ATT		nucleosome assembly protein 1-like 3							80.0	76.0	77.0					X																	92927421		2203	4300	6503	SO:0001583	missense	4675				nucleosome assembly	chromatin assembly complex		g.chrX:92927421G>T		CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.883C>A	X.37:g.92927421G>T	ENSP00000362171:p.Leu295Ile					FAM133A_uc004efr.1_5'Flank	p.L295I	NM_004538	NP_004529	Q99457	NP1L3_HUMAN			1	1188	-			295					B2RCM0|O60788	Missense_Mutation	SNP	ENST00000373079.3	37	c.883C>A	CCDS14465.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.617394	0.00118	.	.	ENSG00000186310	ENST00000373079;ENST00000543136	T	0.42900	0.96	3.66	0.484	0.16825	.	0.906210	0.08960	N	0.868870	T	0.19604	0.0471	N	0.04880	-0.145	0.09310	N	0.999997	B	0.21905	0.062	B	0.26517	0.07	T	0.25537	-1.0129	10	0.34782	T	0.22	-15.3217	2.6663	0.05053	0.2666:0.0:0.4489:0.2845	.	295	Q99457	NP1L3_HUMAN	I	295;288	ENSP00000362171:L295I	ENSP00000362171:L295I	L	-	1	0	NAP1L3	92814077	1.000000	0.71417	0.224000	0.23877	0.062000	0.15995	1.437000	0.34991	-0.015000	0.14150	-0.344000	0.07964	CTT		0.433	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057449.1	NM_004538		32	19	1	0	7.17e-06	1.78e-05	32	19				
KMT2D	8085	broad.mit.edu	37	12	49440414	49440415	+	Frame_Shift_Ins	INS	-	-	G	rs574333340	byFrequency	TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr12:49440414_49440415insG	ENST00000301067.7	-	15	4394_4395	c.4395_4396insC	c.(4393-4398)cccaagfs	p.K1466fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1466	Cys-rich.				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)	p.K1193fs*25(1)									CAGCCGCCCTTGGGGACGGTGA	0.559																																						uc001rta.3		NA								N|F|Mis							medulloblastoma|renal		1	Insertion - Frameshift(1)	p.K1193fs*25(1)	central_nervous_system(1)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(4393-4398)CCCAAGfs		myeloid/lymphoid or mixed-lineage leukemia 2																																				SO:0001589	frameshift_variant	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.chr12:49440414_49440415insG	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.4396dupC	12.37:g.49440418_49440418dupG	ENSP00000301067:p.Lys1466fs	HNSCC(34;0.089)					p.P1465fs	NM_003482	NP_003473	O14686	MLL2_HUMAN			15	4395_4396	-			1465_1466			Cys-rich.|PHD-type 4.		O14687	Frame_Shift_Ins	INS	ENST00000301067.7	37	c.4395_4396insC	CCDS44873.1																																																																																				0.559	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			15	118	NA	NA	NA	NA	15	118	---	---	---	---
KLF5	688	broad.mit.edu	37	13	73636125	73636137	+	Frame_Shift_Del	DEL	TTACCTTACAGTA	TTACCTTACAGTA	-	rs143426593		TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr13:73636125_73636137delTTACCTTACAGTA	ENST00000377687.4	+	2	924_936	c.388_400delTTACCTTACAGTA	c.(388-402)ttaccttacagtatcfs	p.LPYSI130fs	KLF5_ENST00000477333.1_3'UTR|KLF5_ENST00000539231.1_Frame_Shift_Del_p.LPYSI39fs	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	130					angiogenesis (GO:0001525)|cellular response to organic cyclic compound (GO:0071407)|cellular response to peptide (GO:1901653)|intestinal epithelial cell development (GO:0060576)|microvillus assembly (GO:0030033)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microvillus assembly (GO:0032534)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		CACTGAAGGGTTACCTTACAGTATCAACATGAA	0.474																																						uc001vje.2		NA																	0				large_intestine(1)|ovary(1)|pancreas(1)	3						c.(388-402)TTACCTTACAGTATCfs		Kruppel-like factor 5																																				SO:0001589	frameshift_variant	688				transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr13:73636125_73636137delTTACCTTACAGTA	D14520	CCDS9448.1, CCDS66562.1	13q21.3	2013-01-08			ENSG00000102554	ENSG00000102554		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6349	protein-coding gene	gene with protein product		602903		BTEB2		8479902, 9973612	Standard	NM_001730		Approved	IKLF, CKLF	uc001vje.3	Q13887	OTTHUMG00000017074	ENST00000377687.4:c.388_400delTTACCTTACAGTA	13.37:g.73636125_73636137delTTACCTTACAGTA	ENSP00000366915:p.Leu130fs					KLF5_uc001vjd.2_Frame_Shift_Del_p.L39fs	p.L130fs	NM_001730	NP_001721	Q13887	KLF5_HUMAN		GBM - Glioblastoma multiforme(99;0.0011)	2	712_724	+		Prostate(6;0.00187)|Breast(118;0.0735)	130_134					L0R3U5|L0R4T9|Q9UHP8	Frame_Shift_Del	DEL	ENST00000377687.4	37	c.388_400delTTACCTTACAGTA	CCDS9448.1																																																																																				0.474	KLF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045263.1			22	166	NA	NA	NA	NA	22	166	---	---	---	---
UNC13C	440279	broad.mit.edu	37	15	54305623	54305623	+	Frame_Shift_Del	DEL	G	G	-	rs371616367		TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr15:54305623delG	ENST00000260323.11	+	1	523	c.523delG	c.(523-525)ggcfs	p.G175fs	UNC13C_ENST00000545554.1_Frame_Shift_Del_p.G175fs|UNC13C_ENST00000537900.1_Frame_Shift_Del_p.G175fs	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	175					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TACTCTACATGGCTTAAAACT	0.473																																						uc002ack.2		NA																	0				ovary(5)|pancreas(2)	7						c.(523-525)GGCfs		unc-13 homolog C							110.0	109.0	109.0					15																	54305623		1940	4121	6061	SO:0001589	frameshift_variant	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54305623delG	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.523delG	15.37:g.54305623delG	ENSP00000260323:p.Gly175fs						p.G175fs	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	523	+			175					Q0P613|Q8ND48|Q96NP3	Frame_Shift_Del	DEL	ENST00000260323.11	37	c.523delG	CCDS45264.1																																																																																				0.473	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		26	87	NA	NA	NA	NA	26	87	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579579	7579579	+	Frame_Shift_Del	DEL	C	C	-	rs1800370	byFrequency	TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr17:7579579delC	ENST00000269305.4	-	4	297	c.108delG	c.(106-108)ccgfs	p.P36fs	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Frame_Shift_Del_p.P36fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P36fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.P36fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P36fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P36fs	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	36	Interaction with HRMT1L2.|Transcription activation (acidic).		P -> L (in a sporadic cancer; 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.0?(8)|p.P36fs*4(3)|p.?(1)|p.P13fs*18(1)|p.S33fs*23(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)	TTGCTTGGGACGGCAAGGGGG	0.597		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		14	Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(1)	p.0?(7)|p.?(1)|p.P36fs*7(1)|p.P13fs*18(1)|p.S33fs*23(1)	bone(4)|ovary(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|breast(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						c.(106-108)CCGfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							155.0	151.0	152.0					17																	7579579		2203	4300	6503	SO:0001589	frameshift_variant	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.chr17:7579579delC	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.108delG	17.37:g.7579579delC	ENSP00000269305:p.Pro36fs	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_Frame_Shift_Del_p.P36fs|TP53_uc002gih.2_Frame_Shift_Del_p.P36fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Del_p.P36fs|TP53_uc010cni.1_Frame_Shift_Del_p.P36fs|TP53_uc002gij.2_Frame_Shift_Del_p.P36fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_5'UTR|TP53_uc010cnk.1_Frame_Shift_Del_p.P51fs	p.P36fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	302	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	36		P -> L (in a sporadic cancer; somatic mutation).	Transcription activation (acidic).|Interaction with HRMT1L2.		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	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.108delG	CCDS11118.1																																																																																				0.597	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		76	131	NA	NA	NA	NA	76	131	---	---	---	---
TIGIT	201633	broad.mit.edu	37	3	114014456	114014456	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr3:114014456delC	ENST00000486257.1	+	3	383	c.126delC	c.(124-126)atcfs	p.I42fs	TIGIT_ENST00000481065.1_Frame_Shift_Del_p.I109fs|TIGIT_ENST00000383671.3_Frame_Shift_Del_p.I42fs			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	42	Homodimerization.|Ig-like V-type.				negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|positive regulation of interleukin-10 production (GO:0032733)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						GCTCTATCATCTTACAATGTC	0.522																																						uc003ebg.1		NA																	0				central_nervous_system(1)	1						c.(124-126)ATCfs		T cell immunoreceptor with Ig and ITIM domains							143.0	142.0	142.0					3																	114014456		2203	4300	6503	SO:0001589	frameshift_variant	201633				negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding	g.chr3:114014456delC	AK097192	CCDS2980.1	3q13.31	2013-01-11	2008-10-13	2008-10-13	ENSG00000181847	ENSG00000181847		"""Immunoglobulin superfamily / V-set domain containing"""	26838	protein-coding gene	gene with protein product		612859	"""V-set and immunoglobulin domain containing 9"", ""V-set and transmembrane domain containing 3"""	VSIG9, VSTM3		19011627	Standard	NM_173799		Approved	FLJ39873, DKFZp667A205	uc003ebg.2	Q495A1	OTTHUMG00000159331	ENST00000486257.1:c.126delC	3.37:g.114014456delC	ENSP00000419085:p.Ile42fs						p.I42fs	NM_173799	NP_776160	Q495A1	TIGIT_HUMAN			2	160	+			42			Extracellular (Potential).|Ig-like V-type.		Q495A3|Q5JPD8|Q6MZS2|Q8N877	Frame_Shift_Del	DEL	ENST00000486257.1	37	c.126delC	CCDS2980.1																																																																																				0.522	TIGIT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354690.1	NM_173799		54	142	NA	NA	NA	NA	54	142	---	---	---	---
SLC4A4	8671	broad.mit.edu	37	4	72215646	72215646	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr4:72215646delA	ENST00000264485.5	+	5	524	c.407delA	c.(406-408)gaafs	p.E136fs	SLC4A4_ENST00000425175.1_Frame_Shift_Del_p.E136fs|SLC4A4_ENST00000351898.6_Frame_Shift_Del_p.E136fs|SLC4A4_ENST00000512686.1_Frame_Shift_Del_p.E92fs|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000340595.3_Frame_Shift_Del_p.E92fs	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	136					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	AAGTTTGAAGAAAAAGTGGAA	0.438																																						uc003hfy.2		NA																	0				ovary(3)|kidney(1)|skin(1)	5						c.(406-408)GAAfs		solute carrier family 4, sodium bicarbonate							113.0	113.0	113.0					4																	72215646		2203	4300	6503	SO:0001589	frameshift_variant	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72215646delA	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.407delA	4.37:g.72215646delA	ENSP00000264485:p.Glu136fs					SLC4A4_uc010iic.2_Frame_Shift_Del_p.E136fs|SLC4A4_uc010iib.2_Frame_Shift_Del_p.E136fs|SLC4A4_uc003hfz.2_Frame_Shift_Del_p.E136fs|SLC4A4_uc003hgc.3_Frame_Shift_Del_p.E92fs|SLC4A4_uc003hga.2_Frame_Shift_Del_p.E14fs|SLC4A4_uc003hgb.3_Frame_Shift_Del_p.E92fs	p.E136fs	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		5	524	+			136			Cytoplasmic (Potential).		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Frame_Shift_Del	DEL	ENST00000264485.5	37	c.407delA	CCDS43236.1																																																																																				0.438	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		7	96	NA	NA	NA	NA	7	96	---	---	---	---
TNC	3371	broad.mit.edu	37	9	117797538	117797539	+	Frame_Shift_Ins	INS	-	-	G	rs530735519|rs148674204	byFrequency	TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr9:117797538_117797539insG	ENST00000350763.4	-	22	6142_6143	c.5731_5732insC	c.(5731-5733)cggfs	p.R1911fs	TNC_ENST00000346706.3_Frame_Shift_Ins_p.R1365fs|TNC_ENST00000535648.1_Frame_Shift_Ins_p.R1456fs|TNC_ENST00000537320.1_Frame_Shift_Ins_p.R1274fs|TNC_ENST00000542877.1_Frame_Shift_Ins_p.R1548fs|TNC_ENST00000341037.4_Frame_Shift_Ins_p.R1729fs|TNC_ENST00000345230.3_Frame_Shift_Ins_p.R1274fs|TNC_ENST00000423613.2_Frame_Shift_Ins_p.R1638fs|TNC_ENST00000340094.3_Frame_Shift_Ins_p.R1547fs	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1911	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GACTGATGCCCGGGGGGGTCGC	0.475																																						uc004bjj.3		NA																	0				central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						c.(5731-5733)CGGfs		tenascin C precursor																																				SO:0001589	frameshift_variant	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117797538_117797539insG		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.5732dupC	9.37:g.117797545_117797545dupG	ENSP00000265131:p.Arg1911fs					TNC_uc010mvf.2_Frame_Shift_Ins_p.R1638fs	p.R1911fs	NM_002160	NP_002151	P24821	TENA_HUMAN			22	6093_6094	-			1911			Fibronectin type-III 15.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Frame_Shift_Ins	INS	ENST00000350763.4	37	c.5731_5732insC	CCDS6811.1																																																																																				0.475	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		74	105	NA	NA	NA	NA	74	105	---	---	---	---
