#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
CEP104	9731	broad.mit.edu	37	1	3740094	3740094	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:3740094C>A	ENST00000378230.3	-	19	2721	c.2397G>T	c.(2395-2397)ttG>ttT	p.L799F		NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	799						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						ATTCCGTCAGCAAGTGCTCCG	0.502																																						uc001aky.2		NA																	0					0						c.(2395-2397)TTG>TTT		glycine-, glutamate-,							168.0	152.0	157.0					1																	3740094		2203	4300	6503	SO:0001583	missense	9731					centriole	binding	g.chr1:3740094C>A	AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"""glycine, glutamate, thienylcyclohexylpiperidine binding protein"""		"""KIAA0562"""	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.2397G>T	1.37:g.3740094C>A	ENSP00000367476:p.Leu799Phe					KIAA0562_uc010nzm.1_RNA	p.L799F	NM_014704	NP_055519	O60308	CE104_HUMAN		Epithelial(90;6.85e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.59e-22)|GBM - Glioblastoma multiforme(42;3.16e-16)|Colorectal(212;2.01e-05)|COAD - Colon adenocarcinoma(227;7.99e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000389)|Kidney(185;0.000513)|STAD - Stomach adenocarcinoma(132;0.00709)|KIRC - Kidney renal clear cell carcinoma(229;0.00714)|Lung(427;0.137)	19	2756	-	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_epithelial(116;3.96e-21)|all_lung(118;2.74e-08)|Lung NSC(185;6.4e-06)|Breast(487;0.00066)|Renal(390;0.00121)|Hepatocellular(190;0.00335)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.031)|Lung SC(97;0.0548)|Medulloblastoma(700;0.212)	799					Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Missense_Mutation	SNP	ENST00000378230.3	37	c.2397G>T	CCDS30571.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.80|15.80	2.940844|2.940844	0.52972|0.52972	.|.	.|.	ENSG00000116198|ENSG00000116198	ENST00000438539|ENST00000378230	.|T	.|0.43688	.|0.94	5.68|5.68	4.74|4.74	0.60224|0.60224	.|.	.|0.000000	.|0.64402	.|D	.|0.000010	T|T	0.64461|0.64461	0.2600|0.2600	M|M	0.75615|0.75615	2.305|2.305	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	T|T	0.66052|0.66052	-0.6019|-0.6019	5|10	.|0.52906	.|T	.|0.07	.|.	15.8475|15.8475	0.78903|0.78903	0.0:0.8648:0.1352:0.0|0.0:0.8648:0.1352:0.0	.|.	.|799	.|O60308	.|CE104_HUMAN	F|F	96|799	.|ENSP00000367476:L799F	.|ENSP00000367476:L799F	C|L	-|-	2|3	0|2	CEP104|CEP104	3729954|3729954	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.241000|0.241000	0.25554|0.25554	1.991000|1.991000	0.40727|0.40727	2.670000|2.670000	0.90874|0.90874	0.655000|0.655000	0.94253|0.94253	TGC|TTG		0.502	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3	NM_014704		35	30	1	0	1.31e-17	1.83e-17	35	30				
CA6	765	broad.mit.edu	37	1	9019024	9019024	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:9019024C>A	ENST00000377443.2	+	4	468	c.464C>A	c.(463-465)gCg>gAg	p.A155E	CA6_ENST00000476083.1_3'UTR|CA6_ENST00000377436.3_Missense_Mutation_p.A155E|CA6_ENST00000377442.2_Missense_Mutation_p.A95E	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI	155					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)	GCCCAAGATGCGCCGGATGGT	0.428																																						uc001apm.2		NA																	0				ovary(2)	2						c.(463-465)GCG>GAG		carbonic anhydrase VI precursor							184.0	189.0	187.0					1																	9019024		2203	4300	6503	SO:0001583	missense	765				one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding	g.chr1:9019024C>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.464C>A	1.37:g.9019024C>A	ENSP00000366662:p.Ala155Glu					CA6_uc009vmn.2_Missense_Mutation_p.A95E	p.A155E	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)	4	488	+	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)	155					E7EMQ1|Q5FBW3|Q5FC00|Q96QX8|Q9UF03	Missense_Mutation	SNP	ENST00000377443.2	37	c.464C>A	CCDS30578.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.509690	0.27036	.	.	ENSG00000131686	ENST00000549778;ENST00000377443;ENST00000377436;ENST00000377442	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	5.11	-7.83	0.01201	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.698520	0.14643	N	0.307115	T	0.20292	0.0488	N	0.02345	-0.59	0.09310	N	1	B;B	0.25048	0.09;0.117	B;B	0.25506	0.061;0.061	T	0.09509	-1.0671	10	0.31617	T	0.26	.	18.5688	0.91128	0.8565:0.1435:0.0:0.0	.	95;155	E7EMQ1;P23280	.;CAH6_HUMAN	E	123;155;155;95	ENSP00000447108:A123E;ENSP00000366662:A155E;ENSP00000366654:A155E;ENSP00000366661:A95E	ENSP00000366654:A155E	A	+	2	0	CA6	8941611	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.629000	0.24538	-0.875000	0.04022	0.655000	0.94253	GCG		0.428	CA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000004911.1			103	52	1	0	4.61e-43	7.15e-43	103	52				
CROCC	9696	broad.mit.edu	37	1	17295649	17295649	+	Silent	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:17295649G>T	ENST00000375541.5	+	32	5184	c.5115G>T	c.(5113-5115)ctG>ctT	p.L1705L		NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CCCTGCAGCTGACCGTGGAGC	0.667																																						uc001azt.2		NA																	0				ovary(2)|breast(2)|central_nervous_system(1)	5						c.(5113-5115)CTG>CTT		ciliary rootlet coiled-coil							18.0	24.0	22.0					1																	17295649		2197	4299	6496	SO:0001819	synonymous_variant	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17295649G>T	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.5115G>T	1.37:g.17295649G>T						CROCC_uc001azu.2_Silent_p.L1008L|CROCC_uc001azv.2_Silent_p.L41L	p.L1705L	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	32	5184	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	1705						Silent	SNP	ENST00000375541.5	37	c.5115G>T	CCDS30616.1																																																																																				0.667	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		3	11	1	0	0.004672	0.00493652	3	11				
SH3BGRL3	83442	broad.mit.edu	37	1	26607338	26607338	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:26607338A>G	ENST00000270792.5	+	2	1111	c.131A>G	c.(130-132)aAc>aGc	p.N44S	SH3BGRL3_ENST00000319041.6_Missense_Mutation_p.N44S	NM_031286.3	NP_112576.1	Q9H299	SH3L3_HUMAN	SH3 domain binding glutamate-rich protein like 3	44	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell redox homeostasis (GO:0045454)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of actin filament depolymerization (GO:0030834)|regulation of blood vessel endothelial cell migration (GO:0043535)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)|Rho GTPase activator activity (GO:0005100)|semaphorin receptor binding (GO:0030215)						all_cancers(24;1.16e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.22e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00751)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCAGGACAACGCCCTGAGG	0.617																																						uc001blu.2		NA																	0					0						c.(130-132)AAC>AGC		SH3 domain binding glutamic acid-rich protein							71.0	63.0	66.0					1																	26607338		2203	4300	6503	SO:0001583	missense	83442				cell redox homeostasis	cytoplasm|nucleus	electron carrier activity|protein disulfide oxidoreductase activity	g.chr1:26607338A>G	AJ297915	CCDS278.1	1p36.11	2014-02-19	2014-02-19		ENSG00000142669	ENSG00000142669			15568	protein-coding gene	gene with protein product		615679	"""SH3 domain binding glutamic acid-rich protein like 3"""				Standard	NM_031286		Approved		uc001blu.3	Q9H299	OTTHUMG00000003381	ENST00000270792.5:c.131A>G	1.37:g.26607338A>G	ENSP00000270792:p.Asn44Ser						p.N44S	NM_031286	NP_112576	Q9H299	SH3L3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.22e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00751)|READ - Rectum adenocarcinoma(331;0.0649)	2	565	+		all_cancers(24;1.16e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	44			Glutaredoxin.		Q5T122	Missense_Mutation	SNP	ENST00000270792.5	37	c.131A>G	CCDS278.1	.	.	.	.	.	.	.	.	.	.	A	13.39	2.221806	0.39300	.	.	ENSG00000142669	ENST00000270792;ENST00000374243;ENST00000319041	T;T	0.75704	-0.96;-0.96	5.75	5.75	0.90469	Glutaredoxin (1);Thioredoxin-like fold (2);	0.355823	0.35495	N	0.003169	T	0.64951	0.2645	.	.	.	0.24864	N	0.992321	B	0.12630	0.006	B	0.20577	0.03	T	0.52079	-0.8623	9	0.25106	T	0.35	-14.1209	16.0519	0.80769	1.0:0.0:0.0:0.0	.	44	Q9H299	SH3L3_HUMAN	S	44;177;44	ENSP00000270792:N44S;ENSP00000363358:N44S	ENSP00000270792:N44S	N	+	2	0	SH3BGRL3	26479925	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.901000	0.56303	2.196000	0.70406	0.533000	0.62120	AAC		0.617	SH3BGRL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009498.1			18	10	0	0	0	0	18	10				
CSMD2	114784	broad.mit.edu	37	1	34123627	34123627	+	Missense_Mutation	SNP	C	C	T	rs375435304		TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:34123627C>T	ENST00000373380.1	-	6	1205	c.985G>A	c.(985-987)Gcg>Acg	p.A329T	CSMD2_ENST00000373381.4_Missense_Mutation_p.A1456T|CSMD2_ENST00000373388.2_5'UTR			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1416						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCCTGCAGCGCGTAGCCAGGG	0.592																																						uc001bxn.1		NA																	0				ovary(6)|skin(5)|pancreas(1)	12						c.(4246-4248)GCG>ACG		CUB and Sushi multiple domains 2			THR/ALA	1,4405	2.1+/-5.4	0,1,2202	119.0	111.0	114.0		4246	2.9	0.0	1		114	0,8600		0,0,4300	no	missense	CSMD2	NM_052896.3	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	1416/3488	34123627	1,13005	2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34123627C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.985G>A	1.37:g.34123627C>T	ENSP00000362478:p.Ala329Thr					CSMD2_uc001bxm.1_Missense_Mutation_p.A1456T|CSMD2_uc001bxo.1_Missense_Mutation_p.A329T	p.A1416T	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			27	4275	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1416			Extracellular (Potential).|Sushi 8.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37	c.4246G>A		.	.	.	.	.	.	.	.	.	.	c	8.917	0.960088	0.18507	2.27E-4	0.0	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.63744	-0.06;-0.06	5.78	2.91	0.33838	Complement control module (2);Sushi/SCR/CCP (3);	0.422247	0.26146	N	0.026078	T	0.35219	0.0924	N	0.04355	-0.22	0.09310	N	0.999996	B;B;B	0.15930	0.006;0.015;0.001	B;B;B	0.15484	0.013;0.009;0.002	T	0.18777	-1.0326	10	0.36615	T	0.2	.	7.3055	0.26445	0.0:0.6002:0.2598:0.14	.	329;1416;1456	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	T	1456;329	ENSP00000362479:A1456T;ENSP00000362478:A329T	ENSP00000241312:A1416T	A	-	1	0	CSMD2	33896214	0.000000	0.05858	0.002000	0.10522	0.884000	0.51177	0.198000	0.17217	0.372000	0.24591	-0.223000	0.12442	GCG		0.592	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		44	22	0	0	0	0	44	22				
CSMD2	114784	broad.mit.edu	37	1	34174731	34174731	+	Silent	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:34174731C>T	ENST00000373380.1	-	1	373	c.153G>A	c.(151-153)ctG>ctA	p.L51L	CSMD2_ENST00000373381.4_Silent_p.L1178L|CSMD2_ENST00000373388.2_5'UTR			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1138	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCCTGGCTTTCAGCTGAATTC	0.443																																						uc001bxn.1		NA																	0				ovary(6)|skin(5)|pancreas(1)	12						c.(3412-3414)CTG>CTA		CUB and Sushi multiple domains 2							131.0	123.0	126.0					1																	34174731		2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34174731C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.153G>A	1.37:g.34174731C>T						CSMD2_uc001bxm.1_Silent_p.L1178L|CSMD2_uc001bxo.1_Silent_p.L51L	p.L1138L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			22	3443	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1138			Extracellular (Potential).|CUB 7.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373380.1	37	c.3414G>A																																																																																					0.443	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		8	60	0	0	0	0	8	60				
TMEM125	128218	broad.mit.edu	37	1	43738818	43738818	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:43738818G>T	ENST00000432792.2	+	4	995	c.425G>T	c.(424-426)cGg>cTg	p.R142L	TMEM125_ENST00000439858.1_Missense_Mutation_p.R142L			Q96AQ2	TM125_HUMAN	transmembrane protein 125	142						integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(1)	3	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCCCCTGCTCGGCCGCTGGCC	0.706																																						uc001cir.2		NA																	0				breast(1)	1						c.(424-426)CGG>CTG		transmembrane protein 125																																				SO:0001583	missense	128218					integral to membrane		g.chr1:43738818G>T	BC016858	CCDS480.1	1p34.2	2006-02-16			ENSG00000179178	ENSG00000179178			28275	protein-coding gene	gene with protein product							Standard	NM_144626		Approved	MGC17299	uc021oml.1	Q96AQ2	OTTHUMG00000007288	ENST00000432792.2:c.425G>T	1.37:g.43738818G>T	ENSP00000429275:p.Arg142Leu					EBNA1BP2_uc001cio.2_5'Flank|TMEM125_uc001cis.2_Missense_Mutation_p.R142L	p.R142L	NM_144626	NP_653227	Q96AQ2	TM125_HUMAN			4	995	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	142					D3DPX1	Missense_Mutation	SNP	ENST00000432792.2	37	c.425G>T	CCDS480.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.703307	0.30232	.	.	ENSG00000179178	ENST00000439858;ENST00000432792	T;T	0.47869	0.83;0.83	5.1	4.11	0.48088	.	0.406223	0.25695	N	0.028905	T	0.30854	0.0778	L	0.27053	0.805	0.37593	D	0.920242	P	0.40302	0.712	B	0.35114	0.196	T	0.29882	-0.9997	10	0.66056	D	0.02	.	7.9578	0.30053	0.0947:0.1545:0.7508:0.0	.	142	Q96AQ2	TM125_HUMAN	L	142	ENSP00000429775:R142L;ENSP00000429275:R142L	ENSP00000429275:R142L	R	+	2	0	TMEM125	43511405	1.000000	0.71417	0.388000	0.26195	0.080000	0.17528	3.870000	0.56070	0.983000	0.38602	0.563000	0.77884	CGG		0.706	TMEM125-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019032.2	NM_144626		9	5	1	0	2.74e-10	3.5e-10	9	5				
PCSK9	255738	broad.mit.edu	37	1	55518372	55518372	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:55518372G>A	ENST00000302118.5	+	5	997	c.707G>A	c.(706-708)gGc>gAc	p.G236D	PCSK9_ENST00000452118.2_3'UTR|PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_Missense_Mutation_p.G36D	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	236	Peptidase S8.				apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						GTGGTCAGCGGCCGGGATGCC	0.637																																					Pancreas(137;1454 1827 5886 22361 42375)	uc001cyf.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(706-708)GGC>GAC		proprotein convertase subtilisin/kexin type 9							33.0	34.0	34.0					1																	55518372		2202	4300	6502	SO:0001583	missense	255738				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	g.chr1:55518372G>A	AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"""hypercholesterolemia, autosomal dominant 3"""	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.707G>A	1.37:g.55518372G>A	ENSP00000303208:p.Gly236Asp					PCSK9_uc010ool.1_RNA|PCSK9_uc010oom.1_RNA	p.G236D	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN			5	998	+			236			Peptidase S8.		A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Missense_Mutation	SNP	ENST00000302118.5	37	c.707G>A	CCDS603.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.595045	0.86953	.	.	ENSG00000169174	ENST00000302118;ENST00000543384	D;D	0.89617	-2.54;-2.54	4.02	4.02	0.46733	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.064455	0.64402	D	0.000011	D	0.95626	0.8578	M	0.92122	3.275	0.51233	D	0.999914	D	0.89917	1.0	D	0.87578	0.998	D	0.97000	0.9728	10	0.87932	D	0	-25.1077	16.1496	0.81605	0.0:0.0:1.0:0.0	.	236	Q8NBP7	PCSK9_HUMAN	D	236;36	ENSP00000303208:G236D;ENSP00000441859:G36D	ENSP00000303208:G236D	G	+	2	0	PCSK9	55290960	1.000000	0.71417	0.997000	0.53966	0.834000	0.47266	8.218000	0.89768	1.756000	0.51951	0.563000	0.77884	GGC		0.637	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022280.1	NM_174936		25	11	0	0	0	0	25	11				
INADL	10207	broad.mit.edu	37	1	62340990	62340990	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:62340990G>T	ENST00000371158.2	+	21	3025	c.2911G>T	c.(2911-2913)Gac>Tac	p.D971Y	INADL_ENST00000316485.6_Missense_Mutation_p.D971Y	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	971					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						AGGCAGATTTGACGACCTGGA	0.338																																						uc001dab.2		NA																	0				ovary(3)|skin(1)	4						c.(2911-2913)GAC>TAC		InaD-like							96.0	97.0	97.0					1																	62340990		2203	4300	6503	SO:0001583	missense	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62340990G>T	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.2911G>T	1.37:g.62340990G>T	ENSP00000360200:p.Asp971Tyr					INADL_uc009waf.1_Missense_Mutation_p.D971Y|INADL_uc001daa.2_Missense_Mutation_p.D971Y|INADL_uc001dad.3_Missense_Mutation_p.D668Y|INADL_uc001dac.2_RNA	p.D971Y	NM_176877	NP_795352	Q8NI35	INADL_HUMAN			21	3025	+			971					O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	c.2911G>T	CCDS617.2	.	.	.	.	.	.	.	.	.	.	G	17.46	3.395110	0.62066	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	T;T	0.16897	2.5;2.31	5.16	4.25	0.50352	.	0.066551	0.56097	D	0.000035	T	0.31979	0.0814	M	0.63428	1.95	0.80722	D	1	D;D;D	0.54047	0.964;0.963;0.964	P;P;P	0.58873	0.847;0.707;0.847	T	0.04065	-1.0980	10	0.72032	D	0.01	.	9.8555	0.41084	0.0927:0.0:0.9073:0.0	.	971;971;971	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	Y	971	ENSP00000360200:D971Y;ENSP00000326199:D971Y	ENSP00000255202:D971Y	D	+	1	0	INADL	62113578	1.000000	0.71417	0.995000	0.50966	0.832000	0.47134	3.032000	0.49736	1.424000	0.47217	0.650000	0.86243	GAC		0.338	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		34	13	1	0	7.83e-31	1.19e-30	34	13				
ERICH3	127254	broad.mit.edu	37	1	75072536	75072536	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:75072536C>A	ENST00000326665.5	-	10	1456	c.1238G>T	c.(1237-1239)aGg>aTg	p.R413M	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.R216M	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		413										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTTTTCTTTCCTAGATTTCGG	0.408																																						uc001dgg.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(1237-1239)AGG>ATG		hypothetical protein LOC127254							119.0	116.0	117.0					1																	75072536		2203	4299	6502	SO:0001583	missense	127254							g.chr1:75072536C>A																												ENST00000326665.5:c.1238G>T	1.37:g.75072536C>A	ENSP00000322609:p.Arg413Met					uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.R207M	p.R413M	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			10	1457	-			413					Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.1238G>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.921099	0.52653	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.19938	2.53;2.11	5.14	1.12	0.20585	.	.	.	.	.	T	0.19046	0.0457	L	0.48642	1.525	0.09310	N	0.999997	D;D	0.89917	1.0;1.0	D;D	0.73380	0.964;0.98	T	0.04522	-1.0945	9	0.59425	D	0.04	-9.2081	6.938	0.24476	0.0:0.5152:0.0:0.4848	.	216;413	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	M	413;216	ENSP00000322609:R413M;ENSP00000398581:R216M	ENSP00000322609:R413M	R	-	2	0	C1orf173	74845124	0.001000	0.12720	0.533000	0.28001	0.058000	0.15608	-0.036000	0.12185	0.271000	0.22005	-0.145000	0.13849	AGG		0.408	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			47	34	1	0	2.48e-22	3.65e-22	47	34				
WDR63	126820	broad.mit.edu	37	1	85561694	85561694	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:85561694C>G	ENST00000294664.6	+	11	1434	c.1254C>G	c.(1252-1254)atC>atG	p.I418M	WDR63_ENST00000370596.1_Missense_Mutation_p.I379M|WDR63_ENST00000326813.8_Missense_Mutation_p.I379M	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	418										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		GAGGCTGTATCAATGGGCAGG	0.393																																						uc001dkt.2		NA																	0				upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5						c.(1252-1254)ATC>ATG		WD repeat domain 63							143.0	136.0	138.0					1																	85561694		2203	4300	6503	SO:0001583	missense	126820							g.chr1:85561694C>G		CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"""WD repeat domain containing"""	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.1254C>G	1.37:g.85561694C>G	ENSP00000294664:p.Ile418Met					WDR63_uc009wcl.2_Missense_Mutation_p.I379M	p.I418M	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN		all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)	11	1445	+			418			WD 1.		A8K988|Q96L72|Q96NU4	Missense_Mutation	SNP	ENST00000294664.6	37	c.1254C>G	CCDS702.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.240143	0.22711	.	.	ENSG00000162643	ENST00000370596;ENST00000326813;ENST00000294664	T;T;T	0.55234	0.53;0.53;0.53	5.43	-1.87	0.07737	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.281147	0.40640	N	0.001052	T	0.19446	0.0467	L	0.46741	1.465	0.27545	N	0.950662	B;B	0.20459	0.045;0.027	B;B	0.23419	0.046;0.021	T	0.20107	-1.0285	10	0.45353	T	0.12	-19.9082	5.262	0.15578	0.1609:0.5087:0.067:0.2634	.	379;418	Q8IWG1-2;Q8IWG1	.;WDR63_HUMAN	M	379;379;418	ENSP00000359628:I379M;ENSP00000317463:I379M;ENSP00000294664:I418M	ENSP00000294664:I418M	I	+	3	3	WDR63	85334282	0.657000	0.27393	0.994000	0.49952	0.897000	0.52465	-0.228000	0.09114	-0.242000	0.09667	-0.302000	0.09304	ATC		0.393	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172		31	19	0	0	0	0	31	19				
HFM1	164045	broad.mit.edu	37	1	91843694	91843694	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:91843694A>G	ENST00000370425.3	-	11	1381	c.1283T>C	c.(1282-1284)gTa>gCa	p.V428A	HFM1_ENST00000370424.3_Missense_Mutation_p.V107A|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	428	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TCTGCTAACTACAACTTCAAG	0.323																																						uc001doa.3		NA																	0					0						c.(1282-1284)GTA>GCA		HFM1 protein							83.0	75.0	77.0					1																	91843694		1814	4079	5893	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91843694A>G	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.1283T>C	1.37:g.91843694A>G	ENSP00000359454:p.Val428Ala					HFM1_uc010osu.1_Missense_Mutation_p.V107A|HFM1_uc010osv.1_Missense_Mutation_p.V112A|HFM1_uc001doc.1_Missense_Mutation_p.V428A	p.V428A	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	11	1383	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	428			Helicase ATP-binding.		B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.1283T>C	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	A	25.5	4.640801	0.87859	.	.	ENSG00000162669	ENST00000370425;ENST00000370424;ENST00000370421;ENST00000541820	T;T	0.15718	2.4;2.4	5.54	5.54	0.83059	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.41097	U	0.000960	T	0.35278	0.0926	M	0.77103	2.36	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.81914	0.942;0.995;0.995	T	0.27971	-1.0058	10	0.87932	D	0	.	15.6507	0.77091	1.0:0.0:0.0:0.0	.	107;428;428	A6NGI5;B7ZM16;A2PYH4	.;.;HFM1_HUMAN	A	428;107;112;461	ENSP00000359454:V428A;ENSP00000359453:V107A	ENSP00000359450:V112A	V	-	2	0	HFM1	91616282	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.926000	0.92839	2.091000	0.63221	0.460000	0.39030	GTA		0.323	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		19	16	0	0	0	0	19	16				
COL11A1	1301	broad.mit.edu	37	1	103462681	103462681	+	Splice_Site	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:103462681C>T	ENST00000370096.3	-	26	2509		c.e26-1		COL11A1_ENST00000353414.4_Splice_Site|COL11A1_ENST00000512756.1_Splice_Site|COL11A1_ENST00000358392.2_Splice_Site	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CAGGATGACCCTATATTTAGC	0.318																																						uc001dul.2		NA																	0				ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.e26-1		alpha 1 type XI collagen isoform A							128.0	146.0	140.0					1																	103462681		2203	4299	6502	SO:0001630	splice_region_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103462681C>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2197-1G>A	1.37:g.103462681C>T						COL11A1_uc001duk.2_Splice_Site|COL11A1_uc001dum.2_Splice_Site_p.G745_splice|COL11A1_uc001dun.2_Splice_Site_p.G694_splice|COL11A1_uc009weh.2_Splice_Site_p.G617_splice	p.G733_splice	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	26	2515	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)						B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Splice_Site	SNP	ENST00000370096.3	37	c.2197_splice	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001964	0.74932	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9268	0.88986	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL11A1	103235269	1.000000	0.71417	0.998000	0.56505	0.811000	0.45836	7.214000	0.77958	2.230000	0.72887	0.455000	0.32223	.		0.318	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	Intron	100	51	0	0	0	0	100	51				
COL11A1	1301	broad.mit.edu	37	1	103487279	103487279	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:103487279G>T	ENST00000370096.3	-	9	1604	c.1292C>A	c.(1291-1293)cCa>cAa	p.P431Q	COL11A1_ENST00000353414.4_Missense_Mutation_p.P392Q|COL11A1_ENST00000512756.1_Missense_Mutation_p.P315Q|COL11A1_ENST00000358392.2_Missense_Mutation_p.P443Q	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	431	Triple-helical region (interrupted).				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AACCACTGCTGGTTCTCCTTT	0.363																																						uc001dul.2		NA																	0				ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(1291-1293)CCA>CAA		alpha 1 type XI collagen isoform A							160.0	147.0	152.0					1																	103487279		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103487279G>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1292C>A	1.37:g.103487279G>T	ENSP00000359114:p.Pro431Gln					COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.P443Q|COL11A1_uc001dun.2_Missense_Mutation_p.P392Q|COL11A1_uc009weh.2_Missense_Mutation_p.P315Q	p.P431Q	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	9	1610	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	431			Triple-helical region (interrupted).		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.1292C>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.451956	0.63290	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239	D;D;D;D;D	0.97752	-4.52;-4.52;-4.52;-4.52;-4.52	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.98077	0.9366	M	0.77486	2.375	0.80722	D	1	P;P;P;P	0.48503	0.769;0.852;0.911;0.769	P;P;P;P	0.55577	0.507;0.702;0.779;0.507	D	0.98550	1.0636	10	0.56958	D	0.05	.	18.424	0.90602	0.0:0.0:1.0:0.0	.	315;392;443;431	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	Q	431;443;392;315;443	ENSP00000359114:P431Q;ENSP00000351163:P443Q;ENSP00000302551:P392Q;ENSP00000426533:P315Q;ENSP00000408640:P443Q	ENSP00000302551:P392Q	P	-	2	0	COL11A1	103259867	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	8.571000	0.90752	2.351000	0.79841	0.637000	0.83480	CCA		0.363	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		29	20	1	0	2e-19	2.86e-19	29	20				
PDE4DIP	9659	broad.mit.edu	37	1	145075791	145075791	+	Silent	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:145075791G>T	ENST00000530740.1	-	1	110	c.72C>A	c.(70-72)cgC>cgA	p.R24R	PDE4DIP_ENST00000369348.3_Silent_p.R24R|PDE4DIP_ENST00000369359.4_Silent_p.R24R|PDE4DIP_ENST00000369345.4_Silent_p.R24R			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGTGAGCCCGGCGGGACGCGC	0.716			T	PDGFRB	MPD																																	uc001emh.2		NA		Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(70-72)CGC>CGA		phosphodiesterase 4D interacting protein isoform							45.0	56.0	52.0					1																	145075791		2202	4298	6500	SO:0001819	synonymous_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:145075791G>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000530740.1:c.72C>A	1.37:g.145075791G>T						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elo.2_Silent_p.R24R|PDE4DIP_uc001emk.2_Silent_p.R24R	p.R24R	NM_022359	NP_071754	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	1	289	-			Error:Variant_position_missing_in_Q5VU43_after_alignment					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000530740.1	37	c.72C>A																																																																																					0.716	PDE4DIP-036	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000384663.2	NM_022359		17	85	1	0	1.37e-18	1.93e-18	17	85				
CHD1L	9557	broad.mit.edu	37	1	146747865	146747865	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:146747865G>C	ENST00000369258.4	+	14	1503	c.1483G>C	c.(1483-1485)Gaa>Caa	p.E495Q	CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000369259.3_Missense_Mutation_p.E291Q|CHD1L_ENST00000431239.1_Missense_Mutation_p.E401Q|CHD1L_ENST00000361293.5_Missense_Mutation_p.E214Q	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	495	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					CATGATCATAGAAGGAGGCCA	0.453																																						uc001epm.3		NA																	0				ovary(3)|lung(2)|upper_aerodigestive_tract(1)	6						c.(1483-1485)GAA>CAA		chromodomain helicase DNA binding protein							116.0	116.0	116.0					1																	146747865		2203	4300	6503	SO:0001583	missense	9557				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr1:146747865G>C	AF054177	CCDS927.1, CCDS58021.1, CCDS58022.1, CCDS72882.1	1q21.1	2008-02-05			ENSG00000131778	ENSG00000131778			1916	protein-coding gene	gene with protein product		613039				9653160	Standard	NM_004284		Approved	ALC1	uc001epm.5	Q86WJ1	OTTHUMG00000150271	ENST00000369258.4:c.1483G>C	1.37:g.146747865G>C	ENSP00000358262:p.Glu495Gln					uc001epp.2_Intron|CHD1L_uc001epn.3_Missense_Mutation_p.E382Q|CHD1L_uc010ozo.1_RNA|CHD1L_uc009wjg.2_RNA|CHD1L_uc009wjh.2_Missense_Mutation_p.E401Q|CHD1L_uc010ozp.1_Missense_Mutation_p.E214Q|CHD1L_uc001epo.3_Missense_Mutation_p.E291Q|CHD1L_uc010ozq.1_Missense_Mutation_p.E68Q|CHD1L_uc009wji.2_Missense_Mutation_p.E214Q	p.E495Q	NM_004284	NP_004275	Q86WJ1	CHD1L_HUMAN			14	1546	+	all_hematologic(923;0.0487)		495			Helicase C-terminal.		A5YM64|B4DDE1|B5MDZ7|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8	Missense_Mutation	SNP	ENST00000369258.4	37	c.1483G>C	CCDS927.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587685	0.66105	.	.	ENSG00000131778	ENST00000431239;ENST00000369259;ENST00000369258;ENST00000436230;ENST00000361293	D;T;T;T	0.92495	-3.05;-0.94;-0.94;-0.94	5.37	5.37	0.77165	Helicase, C-terminal (1);	0.098063	0.64402	D	0.000001	D	0.88209	0.6375	N	0.13168	0.305	0.52501	D	0.999953	D;P;D	0.65815	0.995;0.913;0.992	P;P;P	0.62491	0.903;0.636;0.84	D	0.87270	0.2285	10	0.26408	T	0.33	.	14.9633	0.71171	0.0:0.0:1.0:0.0	.	401;291;495	Q86WJ1-2;Q86WJ1-3;Q86WJ1	.;.;CHD1L_HUMAN	Q	401;291;495;395;214	ENSP00000389031:E401Q;ENSP00000358263:E291Q;ENSP00000358262:E495Q;ENSP00000355100:E214Q	ENSP00000355100:E214Q	E	+	1	0	CHD1L	145214489	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.856000	0.75450	2.688000	0.91661	0.555000	0.69702	GAA		0.453	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040377.1	NM_004284		6	102	0	0	0	0	6	102				
FAM63A	55793	broad.mit.edu	37	1	150974945	150974945	+	Missense_Mutation	SNP	C	C	A	rs201811445		TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:150974945C>A	ENST00000361936.5	-	3	1103	c.149G>T	c.(148-150)cGg>cTg	p.R50L	FAM63A_ENST00000361738.6_Missense_Mutation_p.R98L|FAM63A_ENST00000312210.5_Intron|FAM63A_ENST00000470877.1_Intron|FAM63A_ENST00000493834.2_Intron	NM_018379.4	NP_060849	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A	50						extracellular vesicular exosome (GO:0070062)		p.R50Q(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGCTGGCTCCCGTTCTCTAGC	0.592																																						uc001ewf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(148-150)CGG>CTG		hypothetical protein LOC55793 isoform 1							109.0	100.0	103.0					1																	150974945		2203	4300	6503	SO:0001583	missense	55793						protein binding	g.chr1:150974945C>A	BC032321	CCDS976.1, CCDS30854.1, CCDS53361.1, CCDS55635.1	1q21.2	2008-02-05			ENSG00000143409	ENSG00000143409			25648	protein-coding gene	gene with protein product						10718198	Standard	NM_001040217		Approved	FLJ11280	uc010pcn.2	Q8N5J2	OTTHUMG00000035061	ENST00000361936.5:c.149G>T	1.37:g.150974945C>A	ENSP00000354814:p.Arg50Leu					FAM63A_uc001ewc.2_Intron|FAM63A_uc010pcm.1_Intron|FAM63A_uc001ewd.2_Intron|FAM63A_uc001ewe.2_Intron|FAM63A_uc010pcn.1_Missense_Mutation_p.R98L|FAM63A_uc001ewg.2_Missense_Mutation_p.R50L	p.R50L	NM_018379	NP_001156731	Q8N5J2	FA63A_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		3	1833	-	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		50					B3KWP4|B3KWV8|B4DXF2|B4E1S4|D3DV09|J3KP53|Q5SZF0|Q9NUL9|Q9P2F7	Missense_Mutation	SNP	ENST00000361936.5	37	c.149G>T	CCDS976.1	.	.	.	.	.	.	.	.	.	.	C	12.05	1.821119	0.32237	.	.	ENSG00000143409	ENST00000361936;ENST00000361738	T;T	0.46063	0.96;0.88	5.18	1.23	0.21249	.	18.889900	0.03847	U	0.271629	T	0.08179	0.0204	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.15378	-1.0439	10	0.27082	T	0.32	-3.4821	2.1479	0.03791	0.1517:0.0857:0.3141:0.4484	.	98;50	Q8N5J2-3;Q8N5J2	.;FA63A_HUMAN	L	50;98	ENSP00000354814:R50L;ENSP00000354669:R98L	ENSP00000354669:R98L	R	-	2	0	FAM63A	149241569	0.000000	0.05858	0.002000	0.10522	0.021000	0.10359	-0.312000	0.08113	0.066000	0.16515	-0.290000	0.09829	CGG		0.592	FAM63A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411753.1	NM_018379		20	248	1	0	7.45e-12	9.78e-12	20	248				
S100A11	6282	broad.mit.edu	37	1	152005294	152005294	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:152005294C>G	ENST00000271638.2	-	3	281	c.162G>C	c.(160-162)caG>caC	p.Q54H	NBPF18P_ENST00000432386.1_RNA|S100A11_ENST00000478109.1_5'UTR	NM_005620.1	NP_005611.1	P31949	S10AB_HUMAN	S100 calcium binding protein A11	54					negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)|S100 protein binding (GO:0044548)			large_intestine(1)|lung(1)|prostate(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CAGGGTCCTTCTGGTTCTGCA	0.403																																					Colon(152;1751 1834 12462 21158 46902)	uc001ezn.2		NA																	0					0						c.(160-162)CAG>CAC		S100 calcium binding protein A11							67.0	64.0	65.0					1																	152005294		2203	4300	6503	SO:0001583	missense	6282				negative regulation of cell proliferation|negative regulation of DNA replication|signal transduction	cytoplasm|nucleus|ruffle	calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|S100 beta binding	g.chr1:152005294C>G	D38583	CCDS1009.1	1q21	2013-01-10	2006-09-11		ENSG00000163191	ENSG00000163191		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10488	protein-coding gene	gene with protein product		603114	"""S100 calcium-binding protein A11 (calgizzarin)"", ""S100 calcium binding protein A11 (calgizzarin)"""			8985590	Standard	NM_005620		Approved	S100C	uc001ezn.3	P31949	OTTHUMG00000013069	ENST00000271638.2:c.162G>C	1.37:g.152005294C>G	ENSP00000271638:p.Gln54His					uc001ezm.1_Intron	p.Q54H	NM_005620	NP_005611	P31949	S10AB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	282	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		54					Q5VTK0	Missense_Mutation	SNP	ENST00000271638.2	37	c.162G>C	CCDS1009.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.622665	0.28889	.	.	ENSG00000163191	ENST00000271638	T	0.07021	3.23	5.09	3.17	0.36434	EF-hand-like domain (1);	0.000000	0.56097	D	0.000022	T	0.06050	0.0157	M	0.82517	2.595	0.38166	D	0.939182	B	0.22983	0.078	B	0.23574	0.047	T	0.02567	-1.1140	10	0.56958	D	0.05	.	8.1564	0.31171	0.0:0.8021:0.0:0.1979	.	54	P31949	S10AB_HUMAN	H	54	ENSP00000271638:Q54H	ENSP00000271638:Q54H	Q	-	3	2	S100A11	150271918	1.000000	0.71417	1.000000	0.80357	0.526000	0.34562	1.259000	0.32956	1.269000	0.44280	0.491000	0.48974	CAG		0.403	S100A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036676.1	NM_005620		29	52	0	0	0	0	29	52				
DCST2	127579	broad.mit.edu	37	1	155004083	155004083	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:155004083G>A	ENST00000368424.3	-	4	764	c.706C>T	c.(706-708)Ccc>Tcc	p.P236S	DCST1_ENST00000392480.1_5'Flank|DCST2_ENST00000295536.5_Missense_Mutation_p.P236S|DCST1_ENST00000368419.2_5'Flank|DCST1_ENST00000423025.2_5'Flank|DCST1_ENST00000295542.1_5'Flank	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	236						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AGTTTGAAGGGCATGAGCACG	0.592																																						uc001fgm.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(706-708)CCC>TCC		DC-STAMP domain containing 2							137.0	109.0	119.0					1																	155004083		2203	4300	6503	SO:0001583	missense	127579					integral to membrane		g.chr1:155004083G>A	AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.706C>T	1.37:g.155004083G>A	ENSP00000357409:p.Pro236Ser					DCST2_uc009wpb.2_RNA|DCST1_uc010per.1_5'Flank|DCST1_uc001fgn.1_5'Flank|DCST1_uc010pes.1_5'Flank	p.P236S	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		4	786	-	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		236			Helical; (Potential).		Q2M2R2|Q8N810|Q96M03	Missense_Mutation	SNP	ENST00000368424.3	37	c.706C>T	CCDS1082.2	.	.	.	.	.	.	.	.	.	.	G	12.97	2.098573	0.37048	.	.	ENSG00000163354	ENST00000368424;ENST00000295536	T;T	0.24538	1.85;1.9	5.57	5.57	0.84162	.	0.106984	0.38897	N	0.001539	T	0.08714	0.0216	L	0.32530	0.975	0.29084	N	0.882503	B	0.26081	0.141	B	0.20767	0.031	T	0.11616	-1.0580	10	0.13853	T	0.58	-37.2635	16.4539	0.84007	0.0:0.0:1.0:0.0	.	236	Q5T1A1	DCST2_HUMAN	S	236	ENSP00000357409:P236S;ENSP00000295536:P236S	ENSP00000295536:P236S	P	-	1	0	DCST2	153270707	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.399000	0.34566	2.622000	0.88805	0.655000	0.94253	CCC		0.592	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3	NM_144622		32	76	0	0	0	0	32	76				
SYT11	23208	broad.mit.edu	37	1	155837912	155837912	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:155837912T>C	ENST00000368324.4	+	2	444	c.191T>C	c.(190-192)aTa>aCa	p.I64T	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	64					negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			GGCATCAGCATATACCCAGAG	0.502																																						uc001fmg.2		NA																	0				ovary(1)|skin(1)	2						c.(190-192)ATA>ACA		synaptotagmin XI							151.0	138.0	143.0					1																	155837912		2203	4300	6503	SO:0001583	missense	23208					cell junction|synaptic vesicle membrane	protein binding|transporter activity	g.chr1:155837912T>C	D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"""Synaptotagmins"""	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.191T>C	1.37:g.155837912T>C	ENSP00000357307:p.Ile64Thr					SYT11_uc010pgq.1_Intron	p.I64T	NM_152280	NP_689493	Q9BT88	SYT11_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.000162)		2	454	+	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		64			Cytoplasmic (Potential).		Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Missense_Mutation	SNP	ENST00000368324.4	37	c.191T>C	CCDS1122.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.150311	0.78001	.	.	ENSG00000132718	ENST00000368324	T	0.56103	0.48	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.54549	0.1865	M	0.64170	1.965	0.80722	D	1	D	0.60575	0.988	P	0.57204	0.815	T	0.52540	-0.8562	10	0.28530	T	0.3	.	15.7349	0.77834	0.0:0.0:0.0:1.0	.	64	Q9BT88	SYT11_HUMAN	T	64	ENSP00000357307:I64T	ENSP00000357307:I64T	I	+	2	0	SYT11	154104536	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.013000	0.88655	2.195000	0.70347	0.533000	0.62120	ATA		0.502	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039597.1	NM_152280		33	70	0	0	0	0	33	70				
CD1E	913	broad.mit.edu	37	1	158325824	158325824	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:158325824G>C	ENST00000368167.3	+	4	1072	c.833G>C	c.(832-834)gGg>gCg	p.G278A	CD1E_ENST00000444681.2_Missense_Mutation_p.G179A|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368166.3_Missense_Mutation_p.G89A|CD1E_ENST00000368161.3_Intron|CD1E_ENST00000368165.3_Missense_Mutation_p.G188A|CD1E_ENST00000368160.3_Missense_Mutation_p.G278A|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.G276A|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368156.1_Missense_Mutation_p.G188A|CD1E_ENST00000452291.2_Missense_Mutation_p.G89A	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	278	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GTGGCGGCTGGGGAGGCAGCT	0.607																																						uc001fse.2		NA																	0				skin(3)	3						c.(832-834)GGG>GCG		CD1E antigen isoform a precursor							77.0	80.0	79.0					1																	158325824		2203	4300	6503	SO:0001583	missense	913				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		g.chr1:158325824G>C	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.833G>C	1.37:g.158325824G>C	ENSP00000357149:p.Gly278Ala					CD1E_uc010pid.1_Missense_Mutation_p.G276A|CD1E_uc010pie.1_Missense_Mutation_p.G179A|CD1E_uc010pif.1_Missense_Mutation_p.G89A|CD1E_uc001fsd.2_Intron|CD1E_uc001fsk.2_Missense_Mutation_p.G188A|CD1E_uc001fsj.2_Intron|CD1E_uc001fsc.2_Missense_Mutation_p.G89A|CD1E_uc010pig.1_Intron|CD1E_uc001fsa.2_Intron|CD1E_uc001fsf.2_Missense_Mutation_p.G278A|CD1E_uc001fry.2_Intron|CD1E_uc001fsg.2_Intron|CD1E_uc001fsh.2_Missense_Mutation_p.G89A|CD1E_uc001fsi.2_Intron|CD1E_uc009wsv.2_Missense_Mutation_p.G179A|CD1E_uc001frz.2_Missense_Mutation_p.G188A|CD1E_uc009wsw.2_Missense_Mutation_p.G36A	p.G278A	NM_030893	NP_112155	P15812	CD1E_HUMAN			4	1072	+	all_hematologic(112;0.0378)		278			Ig-like.		B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Missense_Mutation	SNP	ENST00000368167.3	37	c.833G>C	CCDS41417.1	.	.	.	.	.	.	.	.	.	.	G	4.268	0.048784	0.08243	.	.	ENSG00000158488	ENST00000434258;ENST00000444681;ENST00000368167;ENST00000452291;ENST00000368165;ENST00000368166;ENST00000368160;ENST00000368156	T;T;T;T;T;T;T;T	0.13657	4.2;4.2;4.2;4.2;2.57;4.2;4.2;2.57	4.28	2.34	0.29019	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (2);	0.669254	0.12940	N	0.426661	T	0.05686	0.0149	M	0.64080	1.96	0.09310	N	1	B;P;B;B;B;B;B;B;B;B;B	0.37548	0.021;0.599;0.4;0.186;0.024;0.054;0.189;0.102;0.4;0.008;0.105	B;B;B;B;B;B;B;B;B;B;B	0.35971	0.121;0.215;0.215;0.215;0.1;0.013;0.041;0.041;0.215;0.041;0.021	T	0.23833	-1.0177	10	0.52906	T	0.07	-3.052	6.4376	0.21831	0.231:0.0:0.769:0.0	.	89;179;276;278;179;188;89;278;278;89;188	B4E057;B4E042;E7ET31;A2RRL5;E7EP01;P15812-5;P15812-9;P15812-2;P15812;P15812-8;P15812-6	.;.;.;.;.;.;.;.;CD1E_HUMAN;.;.	A	276;179;278;89;188;89;278;188	ENSP00000401957:G276A;ENSP00000402906:G179A;ENSP00000357149:G278A;ENSP00000416228:G89A;ENSP00000357147:G188A;ENSP00000357148:G89A;ENSP00000357142:G278A;ENSP00000357138:G188A	ENSP00000357138:G188A	G	+	2	0	CD1E	156592448	0.000000	0.05858	0.184000	0.23157	0.284000	0.27059	0.198000	0.17217	1.017000	0.39495	0.563000	0.77884	GGG		0.607	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893		39	64	0	0	0	0	39	64				
OR10K1	391109	broad.mit.edu	37	1	158435444	158435444	+	Silent	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:158435444C>T	ENST00000289451.2	+	1	173	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TTGTTATCTTCCTGCTCCTCT	0.517																																						uc010pij.1		NA																	0				ovary(1)	1						c.(91-93)TTC>TTT		olfactory receptor, family 10, subfamily K,							128.0	109.0	116.0					1																	158435444		2203	4297	6500	SO:0001819	synonymous_variant	391109				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158435444C>T	AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"""GPCR / Class A : Olfactory receptors"""	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.93C>T	1.37:g.158435444C>T							p.F31F	NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN			1	93	+	all_hematologic(112;0.0378)		31			Helical; Name=1; (Potential).		Q6IFS2	Silent	SNP	ENST00000289451.2	37	c.93C>T	CCDS30897.1																																																																																				0.517	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046367.1			40	65	0	0	0	0	40	65				
SPTA1	6708	broad.mit.edu	37	1	158582607	158582607	+	Splice_Site	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:158582607C>T	ENST00000368147.4	-	51	7314	c.7134G>A	c.(7132-7134)caG>caA	p.Q2378Q	SPTA1_ENST00000485680.1_5'Flank	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2378	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				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)	p.Q2378H(1)		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)					AGAATCGGACCTGCTTCATGT	0.458																																						uc001fst.1		NA																	1	Substitution - Missense(1)		kidney(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(7132-7134)CAG>CAA		spectrin, alpha, erythrocytic 1							133.0	130.0	131.0					1																	158582607		1930	4128	6058	SO:0001630	splice_region_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.chr1:158582607C>T	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.7134+1G>A	1.37:g.158582607C>T							p.Q2378Q	NM_003126	NP_003117	P02549	SPTA1_HUMAN			51	7333	-	all_hematologic(112;0.0378)		2378			EF-hand 3.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.7134G>A	CCDS41423.1																																																																																				0.458	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	Silent	26	51	0	0	0	0	26	51				
SPTA1	6708	broad.mit.edu	37	1	158627344	158627344	+	Missense_Mutation	SNP	C	C	G	rs267598102		TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:158627344C>G	ENST00000368147.4	-	19	2908	c.2728G>C	c.(2728-2730)Gaa>Caa	p.E910Q		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	910					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)					GTTTCTGCTTCATGCAGGTCA	0.473																																						uc001fst.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(2728-2730)GAA>CAA		spectrin, alpha, erythrocytic 1							168.0	169.0	168.0					1																	158627344		2007	4195	6202	SO:0001583	missense	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.chr1:158627344C>G	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.2728G>C	1.37:g.158627344C>G	ENSP00000357129:p.Glu910Gln						p.E910Q	NM_003126	NP_003117	P02549	SPTA1_HUMAN			19	2927	-	all_hematologic(112;0.0378)		910			Spectrin 10.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.2728G>C	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.611093	0.87258	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.55588	0.51;0.51	4.68	4.68	0.58851	.	0.000000	0.32802	N	0.005627	T	0.72526	0.3471	M	0.88842	2.985	0.53688	D	0.999979	D	0.89917	1.0	D	0.97110	1.0	T	0.76296	-0.3011	10	0.51188	T	0.08	.	16.6727	0.85271	0.0:1.0:0.0:0.0	.	910	P02549	SPTA1_HUMAN	Q	910	ENSP00000357130:E910Q;ENSP00000357129:E910Q	ENSP00000357129:E910Q	E	-	1	0	SPTA1	156893968	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.677000	0.74503	2.569000	0.86673	0.655000	0.94253	GAA		0.473	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		71	111	0	0	0	0	71	111				
ACKR1	2532	broad.mit.edu	37	1	159175930	159175930	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:159175930C>A	ENST00000368122.2	+	2	1380	c.701C>A	c.(700-702)gCa>gAa	p.A234E	DARC_ENST00000537147.1_Missense_Mutation_p.A234E|DARC_ENST00000368121.2_Missense_Mutation_p.A236E|CTA-134P22.2_ENST00000609696.1_RNA	NM_002036.3	NP_002027.2	Q16570	ACKR1_HUMAN		234					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)					CTGAAGAAGGCATTGGGTATG	0.542																																						uc001fto.2		NA																	0				ovary(1)|lung(1)	2						c.(700-702)GCA>GAA		Duffy blood group antigen isoform b							92.0	87.0	88.0					1																	159175930		2203	4300	6503	SO:0001583	missense	2532				defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity	g.chr1:159175930C>A																												ENST00000368122.2:c.701C>A	1.37:g.159175930C>A	ENSP00000357104:p.Ala234Glu					DARC_uc001ftp.3_Missense_Mutation_p.A236E	p.A234E	NM_002036	NP_002027	Q16570	DUFFY_HUMAN			2	941	+	all_hematologic(112;0.0429)		234			Cytoplasmic (Potential).		A8YPG5|O75898|Q16300|Q8WWE3|Q9UJP0|Q9UKZ5|Q9UKZ6|Q9UQE1	Missense_Mutation	SNP	ENST00000368122.2	37	c.701C>A	CCDS1183.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.725992	0.30593	.	.	ENSG00000213088	ENST00000368122;ENST00000537147;ENST00000359381;ENST00000368121	T;T;T	0.48522	0.81;0.81;0.81	4.98	-2.38	0.06622	.	0.908723	0.08909	U	0.876139	T	0.26666	0.0652	L	0.38175	1.15	0.09310	N	1	P;P	0.45902	0.868;0.548	P;P	0.48901	0.594;0.594	T	0.31081	-0.9956	10	0.72032	D	0.01	-2.2429	9.7035	0.40200	0.0:0.4149:0.0:0.5851	.	236;234	Q5Y7A1;Q16570	.;DUFFY_HUMAN	E	234;234;234;236	ENSP00000357104:A234E;ENSP00000441985:A234E;ENSP00000357103:A236E	ENSP00000352341:A234E	A	+	2	0	DARC	157442554	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.055000	0.03493	-0.318000	0.08665	0.655000	0.94253	GCA		0.542	DARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090338.2			26	62	1	0	6.13e-19	8.71e-19	26	62				
DEDD	9191	broad.mit.edu	37	1	161093691	161093691	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:161093691C>G	ENST00000368006.3	-	4	585	c.371G>C	c.(370-372)cGc>cCc	p.R124P	NIT1_ENST00000368008.1_Intron|DEDD_ENST00000392188.1_Missense_Mutation_p.R124P|DEDD_ENST00000458050.2_Missense_Mutation_p.R124P|DEDD_ENST00000489249.1_5'UTR|DEDD_ENST00000545495.1_Missense_Mutation_p.R124P|DEDD_ENST00000490843.2_Missense_Mutation_p.R124P|DEDD_ENST00000368005.1_Missense_Mutation_p.R124P	NM_032998.2	NP_127491.1	O75618	DEDD_HUMAN	death effector domain containing	124					decidualization (GO:0046697)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|regulation of apoptotic process (GO:0042981)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	DNA binding (GO:0003677)			cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1)	10	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GGTCACATAGCGAATTGATGT	0.483																																						uc001fxz.2		NA																	0					0						c.(370-372)CGC>CCC		death effector domain-containing protein							155.0	146.0	149.0					1																	161093691		2203	4300	6503	SO:0001583	missense	9191				apoptosis|induction of apoptosis via death domain receptors|negative regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr1:161093691C>G	AF043733	CCDS1219.1	1q23.1	2008-02-05	2002-01-14		ENSG00000158796	ENSG00000158796			2755	protein-coding gene	gene with protein product		606841	"""death effector domain-containing"""			9774341, 9832420	Standard	XM_005245597		Approved	DEFT, FLDED1, CASP8IP1, KE05, DEDD1	uc001fxz.3	O75618	OTTHUMG00000033104	ENST00000368006.3:c.371G>C	1.37:g.161093691C>G	ENSP00000356985:p.Arg124Pro					NIT1_uc001fxw.2_Intron|DEDD_uc009wty.2_Missense_Mutation_p.R124P|DEDD_uc001fya.2_Missense_Mutation_p.R124P|DEDD_uc001fyb.2_Missense_Mutation_p.R124P|DEDD_uc010pkb.1_Missense_Mutation_p.R81P|DEDD_uc001fyc.2_5'UTR	p.R124P	NM_001039712	NP_001034801	O75618	DEDD_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		4	544	-	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		124					D3DVF5|O60737	Missense_Mutation	SNP	ENST00000368006.3	37	c.371G>C	CCDS1219.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.334239	0.60853	.	.	ENSG00000158796	ENST00000368006;ENST00000392188;ENST00000545495;ENST00000458050;ENST00000541906;ENST00000368005;ENST00000535389	.	.	.	5.27	5.27	0.74061	.	0.048376	0.85682	D	0.000000	T	0.33962	0.0881	L	0.44542	1.39	0.80722	D	1	P;B;P	0.49447	0.903;0.001;0.924	B;B;B	0.43508	0.422;0.003;0.29	T	0.32955	-0.9887	9	0.54805	T	0.06	.	9.7503	0.40473	0.0:0.9092:0.0:0.0908	.	81;124;124	B4DKM1;B1AQP5;O75618	.;.;DEDD_HUMAN	P	124;124;124;124;124;124;81	.	ENSP00000356984:R124P	R	-	2	0	DEDD	159360315	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.145000	0.58065	2.741000	0.93983	0.650000	0.86243	CGC		0.483	DEDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080582.1	NM_004216		37	97	0	0	0	0	37	97				
DDR2	4921	broad.mit.edu	37	1	162731083	162731083	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:162731083G>T	ENST00000367922.3	+	10	1376	c.938G>T	c.(937-939)tGg>tTg	p.W313L	DDR2_ENST00000367921.3_Missense_Mutation_p.W313L	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	313					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	GCCAGTGAGTGGGAACCTAAT	0.527																																					NSCLC(161;314 2006 8283 19651 23192)	uc001gcf.2		NA																	0				lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6						c.(937-939)TGG>TTG		discoidin domain receptor family, member 2							195.0	138.0	157.0					1																	162731083		2203	4300	6503	SO:0001583	missense	4921				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:162731083G>T	AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.938G>T	1.37:g.162731083G>T	ENSP00000356899:p.Trp313Leu					DDR2_uc001gcg.2_Missense_Mutation_p.W313L	p.W313L	NM_001014796	NP_001014796	Q16832	DDR2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.113)		10	1403	+	all_hematologic(112;0.115)		313			Extracellular (Potential).		Q7Z730	Missense_Mutation	SNP	ENST00000367922.3	37	c.938G>T	CCDS1241.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.954811	0.92726	.	.	ENSG00000162733	ENST00000367922;ENST00000367921	T;T	0.68331	-0.32;-0.32	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.80491	0.4633	M	0.80183	2.485	0.42362	D	0.992417	D	0.71674	0.998	D	0.68765	0.96	T	0.81867	-0.0735	9	0.72032	D	0.01	.	18.8112	0.92058	0.0:0.0:1.0:0.0	.	313	Q16832	DDR2_HUMAN	L	313	ENSP00000356899:W313L;ENSP00000356898:W313L	ENSP00000356898:W313L	W	+	2	0	DDR2	160997707	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	9.087000	0.94110	2.763000	0.94921	0.655000	0.94253	TGG		0.527	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	NM_006182		28	30	1	0	2.13e-12	2.82e-12	28	30				
C1orf110	339512	broad.mit.edu	37	1	162824618	162824618	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:162824618G>A	ENST00000367910.1	-	4	966	c.846C>T	c.(844-846)tcC>tcT	p.S282S	C1orf110_ENST00000524691.1_Intron|C1orf110_ENST00000367912.2_Intron|C1orf110_ENST00000367911.2_Intron	NM_178550.4	NP_848645.3	Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	282										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						TGGATGATGAGGATTCCCCAT	0.473																																						uc001gck.2		NA																	0					0						c.(844-846)TCC>TCT		hypothetical protein LOC339512							104.0	101.0	102.0					1																	162824618		1909	4115	6024	SO:0001819	synonymous_variant	339512							g.chr1:162824618G>A	BC040018	CCDS44269.1	1q23.3	2012-06-26			ENSG00000185860	ENSG00000185860			28736	protein-coding gene	gene with protein product						12477932	Standard	NM_178550		Approved	MGC48998	uc001gck.2	Q86UF4	OTTHUMG00000034421	ENST00000367910.1:c.846C>T	1.37:g.162824618G>A						C1orf110_uc009wuw.1_Intron|C1orf110_uc009wux.1_Silent_p.S281S	p.S282S	NM_178550	NP_848645	Q86UF4	CA110_HUMAN			4	1021	-			282					Q5JSG1|Q6ZW57	Silent	SNP	ENST00000367910.1	37	c.846C>T	CCDS44269.1																																																																																				0.473	C1orf110-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083211.2	NM_178550		50	71	0	0	0	0	50	71				
BRINP2	57795	broad.mit.edu	37	1	177226407	177226407	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:177226407A>T	ENST00000361539.4	+	4	868	c.556A>T	c.(556-558)Agc>Tgc	p.S186C	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	186	MACPF.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											CAGTGGGAACAGCACAGCTGT	0.557																																						uc001glf.2		NA																	0				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(556-558)AGC>TGC		family with sequence similarity 5, member B							66.0	65.0	65.0					1																	177226407		2203	4300	6503	SO:0001583	missense	57795					extracellular region		g.chr1:177226407A>T		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.556A>T	1.37:g.177226407A>T	ENSP00000354481:p.Ser186Cys					FAM5B_uc010pna.1_5'UTR|FAM5B_uc001glg.2_Missense_Mutation_p.S81C	p.S186C	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN			4	868	+			186					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	c.556A>T	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	A	14.61	2.587373	0.46110	.	.	ENSG00000198797	ENST00000361539	T	0.17213	2.29	5.35	3.05	0.35203	Membrane attack complex component/perforin (MACPF) domain (1);	0.157852	0.56097	D	0.000032	T	0.32406	0.0828	M	0.64997	1.995	0.47698	D	0.999495	D;D	0.76494	0.999;0.988	D;P	0.64144	0.922;0.866	T	0.03453	-1.1035	10	0.72032	D	0.01	-26.602	9.0643	0.36453	0.8487:0.0:0.1513:0.0	.	81;186	Q9C0B6-2;Q9C0B6	.;FAM5B_HUMAN	C	186	ENSP00000354481:S186C	ENSP00000354481:S186C	S	+	1	0	FAM5B	175493030	1.000000	0.71417	1.000000	0.80357	0.120000	0.20174	1.943000	0.40253	0.861000	0.35504	-0.290000	0.09829	AGC		0.557	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		16	33	0	0	0	0	16	33				
CEP350	9857	broad.mit.edu	37	1	180006140	180006140	+	Silent	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:180006140G>T	ENST00000367607.3	+	17	4444	c.4026G>T	c.(4024-4026)tcG>tcT	p.S1342S		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1342					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TTGAGGAGTCGGTGCGCCAAC	0.468																																						uc001gnt.2		NA																	0				ovary(4)	4						c.(4024-4026)TCG>TCT		centrosome-associated protein 350							84.0	79.0	81.0					1																	180006140		2203	4300	6503	SO:0001819	synonymous_variant	9857					centrosome|nucleus|spindle		g.chr1:180006140G>T	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.4026G>T	1.37:g.180006140G>T						CEP350_uc009wxl.2_Silent_p.S1341S|CEP350_uc001gnu.2_Silent_p.S1175S	p.S1342S	NM_014810	NP_055625	Q5VT06	CE350_HUMAN			17	4409	+			1342					O75068|Q8TDK3|Q8WY20	Silent	SNP	ENST00000367607.3	37	c.4026G>T	CCDS1336.1																																																																																				0.468	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		7	7	1	0	5.49e-09	6.85e-09	7	7				
CACNA1E	777	broad.mit.edu	37	1	181690908	181690908	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:181690908G>A	ENST00000367573.2	+	16	1971	c.1971G>A	c.(1969-1971)gaG>gaA	p.E657E	CACNA1E_ENST00000360108.3_Silent_p.E657E|CACNA1E_ENST00000526775.1_Silent_p.E657E|CACNA1E_ENST00000367567.4_Silent_p.E264E|CACNA1E_ENST00000358338.5_Silent_p.E608E|CACNA1E_ENST00000357570.5_Silent_p.E608E|CACNA1E_ENST00000367570.1_Silent_p.E657E	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	657		Calcium ion selectivity and permeability. {ECO:0000250}.			calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGACGGGTGAGGACTGGAATG	0.542																																						uc001gow.2		NA																	0				ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(1969-1971)GAG>GAA		calcium channel, voltage-dependent, R type,							177.0	176.0	176.0					1																	181690908		2009	4170	6179	SO:0001819	synonymous_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181690908G>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.1971G>A	1.37:g.181690908G>A						CACNA1E_uc009wxs.2_Silent_p.E564E	p.E657E	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			16	2136	+			657			Extracellular (Potential).|II.	Calcium ion selectivity and permeability (By similarity).	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	c.1971G>A	CCDS55664.1																																																																																				0.542	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		54	122	0	0	0	0	54	122				
UCHL5	51377	broad.mit.edu	37	1	193028325	193028325	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:193028325A>C	ENST00000367455.4	-	1	301	c.66T>G	c.(64-66)atT>atG	p.I22M	TROVE2_ENST00000432079.1_5'Flank|TROVE2_ENST00000367444.3_5'Flank|UCHL5_ENST00000367448.1_Missense_Mutation_p.I22M|UCHL5_ENST00000483156.1_5'UTR|UCHL5_ENST00000367449.1_Missense_Mutation_p.I22M|snoU109_ENST00000458806.1_RNA|TROVE2_ENST00000416058.2_5'Flank|UCHL5_ENST00000367454.1_Missense_Mutation_p.I22M|UCHL5_ENST00000530098.2_De_novo_Start_OutOfFrame|UCHL5_ENST00000367451.4_Missense_Mutation_p.I22M|TROVE2_ENST00000367445.3_5'Flank|TROVE2_ENST00000400968.2_5'Flank|TROVE2_ENST00000367446.3_5'Flank|UCHL5_ENST00000367452.4_Intron|TROVE2_ENST00000367443.1_5'Flank	NM_001199261.1|NM_015984.3	NP_001186190.1|NP_057068.1	Q9Y5K5	UCHL5_HUMAN	ubiquitin carboxyl-terminal hydrolase L5	22					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|forebrain morphogenesis (GO:0048853)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein deubiquitination (GO:0016579)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	endopeptidase inhibitor activity (GO:0004866)|omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|proteasome binding (GO:0070628)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(1)|lung(9)|ovary(1)	19						CGAATCCTTTAATGAGCTCGG	0.677																																						uc001gsm.2		NA																	0				lung(2)|ovary(1)	3						c.(64-66)ATT>ATG		ubiquitin carboxyl-terminal hydrolase L5							40.0	41.0	41.0					1																	193028325		2202	4300	6502	SO:0001583	missense	51377				DNA recombination|DNA repair|protein deubiquitination|regulation of proteasomal protein catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytosol|Ino80 complex|proteasome complex	endopeptidase inhibitor activity|omega peptidase activity|proteasome binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:193028325A>C		CCDS1378.1, CCDS55668.1, CCDS55669.1, CCDS55670.1	1q32	2011-07-06			ENSG00000116750	ENSG00000116750		"""INO80 complex subunits"""	19678	protein-coding gene	gene with protein product	"""INO80 complex subunit R"""	610667				10810093, 16027725	Standard	NM_015984		Approved	UCH37, CGI-70, INO80R	uc001gsm.3	Q9Y5K5	OTTHUMG00000035561	ENST00000367455.4:c.66T>G	1.37:g.193028325A>C	ENSP00000356425:p.Ile22Met					UCHL5_uc001gsn.2_RNA|UCHL5_uc001gso.2_Missense_Mutation_p.I22M|UCHL5_uc010pov.1_RNA|UCHL5_uc001gsp.2_Missense_Mutation_p.I22M|UCHL5_uc001gsq.2_Missense_Mutation_p.I22M|UCHL5_uc010pow.1_Intron|UCHL5_uc010pox.1_Translation_Start_Site|UCHL5_uc001gsr.1_3'UTR|TROVE2_uc001gst.1_5'Flank|TROVE2_uc001gss.2_5'Flank|TROVE2_uc001gsu.1_5'Flank|TROVE2_uc001gsv.1_5'Flank|TROVE2_uc001gsw.2_5'Flank|TROVE2_uc009wyp.2_5'Flank|TROVE2_uc009wyq.2_5'Flank	p.I22M	NM_015984	NP_057068	Q9Y5K5	UCHL5_HUMAN			1	197	-			22					Q5LJA6|Q5LJA7|Q8TBS4|Q96BJ9|Q9H1W5|Q9P0I3|Q9UQN2	Missense_Mutation	SNP	ENST00000367455.4	37	c.66T>G	CCDS1378.1	.	.	.	.	.	.	.	.	.	.	A	17.01	3.279571	0.59758	.	.	ENSG00000116750	ENST00000367455;ENST00000367454;ENST00000367450;ENST00000367451;ENST00000367448;ENST00000367449;ENST00000391991	T;T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45;0.45	5.18	5.18	0.71444	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (4);	0.000000	0.85682	D	0.000000	T	0.73032	0.3535	M	0.92555	3.32	0.80722	D	1	D;D;P;P	0.71674	0.983;0.998;0.605;0.714	P;D;P;P	0.65684	0.902;0.937;0.53;0.529	T	0.77459	-0.2580	10	0.66056	D	0.02	-9.71	5.4935	0.16789	0.7901:0.0:0.2099:0.0	.	22;22;22;22	Q9Y5K5-2;Q9Y5K5-4;Q9Y5K5-3;Q9Y5K5	.;.;.;UCHL5_HUMAN	M	22;22;34;22;22;22;12	ENSP00000356425:I22M;ENSP00000356424:I22M;ENSP00000356420:I34M;ENSP00000356421:I22M;ENSP00000356418:I22M;ENSP00000356419:I22M	ENSP00000356418:I22M	I	-	3	3	UCHL5	191294948	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.223000	0.42936	2.178000	0.69098	0.528000	0.53228	ATT		0.677	UCHL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086318.3	NM_015984		14	7	0	0	0	0	14	7				
KCNT2	343450	broad.mit.edu	37	1	196227558	196227558	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:196227558G>T	ENST00000294725.9	-	26	3892	c.2977C>A	c.(2977-2979)Cgc>Agc	p.R993S	KCNT2_ENST00000367433.5_Missense_Mutation_p.R969S|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.R927S|KCNT2_ENST00000609185.1_Missense_Mutation_p.R926S			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	993					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TGGTTGCTGCGGTGGTGCCCT	0.468																																						uc001gtd.1		NA																	0				ovary(5)|breast(1)|skin(1)	7						c.(2977-2979)CGC>AGC		potassium channel, subfamily T, member 2							216.0	177.0	190.0					1																	196227558		2203	4300	6503	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196227558G>T	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2977C>A	1.37:g.196227558G>T	ENSP00000294725:p.Arg993Ser					KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.R926S|KCNT2_uc001gtf.1_Missense_Mutation_p.R969S|KCNT2_uc001gtg.1_RNA|KCNT2_uc001gth.1_Missense_Mutation_p.R497S	p.R993S	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN			26	3037	-			993			Cytoplasmic (Potential).		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.2977C>A	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	G	11.56	1.674687	0.29693	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.19250	2.16;2.16;2.39	5.74	5.74	0.90152	.	0.000000	0.56097	D	0.000023	T	0.27731	0.0682	M	0.62723	1.935	0.80722	D	1	B;P;P;B	0.39216	0.267;0.468;0.664;0.338	B;B;B;B	0.40477	0.246;0.23;0.33;0.115	T	0.01706	-1.1291	10	0.52906	T	0.07	-12.2355	14.7188	0.69289	0.0:0.0:0.8552:0.1448	.	958;969;926;993	Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	S	969;927;993	ENSP00000356403:R969S;ENSP00000356401:R927S;ENSP00000294725:R993S	ENSP00000294725:R993S	R	-	1	0	KCNT2	194494181	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	3.534000	0.53568	2.710000	0.92621	0.643000	0.83706	CGC		0.468	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		40	79	1	0	6.49e-15	8.88e-15	40	79				
CRB1	23418	broad.mit.edu	37	1	197404354	197404354	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:197404354C>A	ENST00000367400.3	+	9	3496	c.3361C>A	c.(3361-3363)Cag>Aag	p.Q1121K	CRB1_ENST00000538660.1_Intron|CRB1_ENST00000535699.1_Missense_Mutation_p.Q1097K|CRB1_ENST00000367397.1_Missense_Mutation_p.Q502K|RP11-75C23.1_ENST00000422250.1_RNA|CRB1_ENST00000367399.2_Missense_Mutation_p.Q1009K|CRB1_ENST00000544212.1_Missense_Mutation_p.Q602K	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	1121	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TAATAAACCTCAGGAAGAGCA	0.398																																						uc001gtz.2		NA																	0				ovary(5)|skin(3)|large_intestine(1)	9						c.(3361-3363)CAG>AAG		crumbs homolog 1 precursor							77.0	78.0	77.0					1																	197404354		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197404354C>A		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.3361C>A	1.37:g.197404354C>A	ENSP00000356370:p.Gln1121Lys					CRB1_uc010poz.1_Missense_Mutation_p.Q1097K|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.Q1009K|CRB1_uc010ppb.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.Q602K|CRB1_uc001gub.1_Missense_Mutation_p.Q770K	p.Q1121K	NM_201253	NP_957705	P82279	CRUM1_HUMAN			9	3496	+			1121			Extracellular (Potential).|Laminin G-like 3.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.3361C>A	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.117733	0.56505	.	.	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	D;D;D;D;D	0.87029	-1.89;-1.73;-2.2;-2.05;-2.03	5.7	5.7	0.88788	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	.	.	.	.	D	0.93485	0.7921	M	0.83953	2.67	0.80722	D	1	D;D;D;D	0.76494	0.996;0.982;0.999;0.994	D;D;D;D	0.72982	0.979;0.968;0.935;0.965	D	0.90674	0.4600	9	0.16896	T	0.51	.	19.8311	0.96636	0.0:1.0:0.0:0.0	.	1097;1009;770;1121	F5H0L2;P82279-3;P82279-4;P82279	.;.;.;CRUM1_HUMAN	K	1097;1121;1009;602;502;770	ENSP00000438786:Q1097K;ENSP00000356370:Q1121K;ENSP00000356369:Q1009K;ENSP00000444556:Q602K;ENSP00000356367:Q502K	ENSP00000356367:Q502K	Q	+	1	0	CRB1	195670977	1.000000	0.71417	0.664000	0.29753	0.036000	0.12997	7.405000	0.80007	2.681000	0.91329	0.650000	0.86243	CAG		0.398	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		30	72	1	0	1.14e-10	1.46e-10	30	72				
SLC26A9	115019	broad.mit.edu	37	1	205900999	205900999	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:205900999C>G	ENST00000367135.3	-	5	654	c.541G>C	c.(541-543)Gcc>Ccc	p.A181P	SLC26A9_ENST00000367134.2_Missense_Mutation_p.A181P|SLC26A9_ENST00000340781.4_Missense_Mutation_p.A181P	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	181					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			TGGATGATGGCGGTGAGGCAG	0.562																																						uc001hdq.2		NA																	0				ovary(1)|skin(1)	2						c.(541-543)GCC>CCC		solute carrier family 26, member 9 isoform a							54.0	54.0	54.0					1																	205900999		2203	4300	6503	SO:0001583	missense	115019					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	g.chr1:205900999C>G	AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"""Solute carriers"""	14469	protein-coding gene	gene with protein product	"""anion transporter/exchanger-9"""	608481	"""solute carrier family 26, member 9"""			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.541G>C	1.37:g.205900999C>G	ENSP00000356103:p.Ala181Pro					SLC26A9_uc001hdp.2_Missense_Mutation_p.A181P	p.A181P	NM_052934	NP_443166	Q7LBE3	S26A9_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0458)		5	655	-	Breast(84;0.201)		181			Helical; (Potential).		A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Missense_Mutation	SNP	ENST00000367135.3	37	c.541G>C	CCDS30990.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.837916	0.91117	.	.	ENSG00000174502	ENST00000340781;ENST00000367135;ENST00000367134	D;D;D	0.92805	-3.11;-3.11;-3.11	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000001	D	0.93439	0.7907	L	0.27053	0.805	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94650	0.7838	10	0.87932	D	0	.	18.2821	0.90102	0.0:1.0:0.0:0.0	.	181;181	Q7LBE3;B1AVM8	S26A9_HUMAN;.	P	181	ENSP00000341682:A181P;ENSP00000356103:A181P;ENSP00000356102:A181P	ENSP00000341682:A181P	A	-	1	0	SLC26A9	204167622	1.000000	0.71417	0.990000	0.47175	0.962000	0.63368	7.041000	0.76558	2.424000	0.82194	0.561000	0.74099	GCC		0.562	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087742.1	NM_052934		21	31	0	0	0	0	21	31				
PIGR	5284	broad.mit.edu	37	1	207106357	207106357	+	Silent	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:207106357C>A	ENST00000356495.4	-	7	2043	c.1860G>T	c.(1858-1860)ggG>ggT	p.G620G	PIGR_ENST00000487208.1_5'Flank	NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	620					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ATGCTCTGCTCCCATCGGCTT	0.557																																						uc001hez.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1858-1860)GGG>GGT		polymeric immunoglobulin receptor precursor							116.0	113.0	114.0					1																	207106357		2203	4300	6503	SO:0001819	synonymous_variant	5284					extracellular region|integral to plasma membrane	protein binding	g.chr1:207106357C>A		CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"""Immunoglobulin superfamily / V-set domain containing"""	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.1860G>T	1.37:g.207106357C>A						PIGR_uc009xbz.2_Silent_p.G620G	p.G620G	NM_002644	NP_002635	P01833	PIGR_HUMAN			7	2044	-			620			Extracellular (Potential).		Q68D81|Q8IZY7	Silent	SNP	ENST00000356495.4	37	c.1860G>T	CCDS1474.1																																																																																				0.557	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088975.1	NM_002644		25	63	1	0	3.65e-15	5.02e-15	25	63				
CAMK1G	57172	broad.mit.edu	37	1	209781228	209781228	+	Silent	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:209781228C>A	ENST00000009105.1	+	7	830	c.585C>A	c.(583-585)ccC>ccA	p.P195P	CAMK1G_ENST00000361322.2_Silent_p.P195P|CAMK1G_ENST00000494990.1_3'UTR			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	195	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		CCCAGAAACCCTACAGCAAGG	0.597																																					Ovarian(163;530 1939 9680 28669 48710)	uc001hhd.2		NA																	0				breast(1)	1						c.(583-585)CCC>CCA		calcium/calmodulin-dependent protein kinase IG							133.0	126.0	128.0					1																	209781228		2203	4300	6503	SO:0001819	synonymous_variant	57172					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr1:209781228C>A		CCDS1486.1	1q32.2	2012-09-20			ENSG00000008118	ENSG00000008118			14585	protein-coding gene	gene with protein product		614994				12637513	Standard	NM_020439		Approved	VWS1, CLICKIII, dJ272L16.1	uc001hhd.3	Q96NX5	OTTHUMG00000036361	ENST00000009105.1:c.585C>A	1.37:g.209781228C>A						CAMK1G_uc001hhf.3_Silent_p.P195P|CAMK1G_uc001hhe.2_Silent_p.P195P	p.P195P	NM_020439	NP_065172	Q96NX5	KCC1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0475)	7	687	+			195			Protein kinase.		Q86UH5|Q9Y3J7	Silent	SNP	ENST00000009105.1	37	c.585C>A	CCDS1486.1																																																																																				0.597	CAMK1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088526.1	NM_020439		56	87	1	0	3.89e-19	5.58e-19	56	87				
DIEXF	27042	broad.mit.edu	37	1	210006693	210006693	+	Silent	SNP	A	A	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:210006693A>G	ENST00000491415.2	+	4	609	c.552A>G	c.(550-552)aaA>aaG	p.K184K		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	184					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						CTTCTTTGAAAGCCTCTCAAG	0.398																																						uc001hhr.1		NA																	0					0						c.(550-552)AAA>AAG		digestive-organ expansion factor homolog							119.0	115.0	116.0					1																	210006693		2203	4300	6503	SO:0001819	synonymous_variant	27042				multicellular organismal development	nucleus		g.chr1:210006693A>G	BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 107"""	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.552A>G	1.37:g.210006693A>G						C1orf107_uc009xcu.1_5'UTR	p.K184K	NM_014388	NP_055203	Q68CQ4	DIEXF_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0367)	4	628	+			184					O75992|Q4VY00|Q63HL9	Silent	SNP	ENST00000491415.2	37	c.552A>G	CCDS1493.1																																																																																				0.398	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089127.2	NM_014388		44	85	0	0	0	0	44	85				
KCNH1	3756	broad.mit.edu	37	1	211093374	211093374	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:211093374C>A	ENST00000271751.4	-	7	1097	c.1070G>T	c.(1069-1071)cGg>cTg	p.R357L	KCNH1_ENST00000367007.4_Missense_Mutation_p.R330L			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	357					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		ACGGAGCAGCCGGACAACTTT	0.567																																						uc001hib.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(1069-1071)CGG>CTG		potassium voltage-gated channel, subfamily H,							65.0	69.0	68.0					1																	211093374		2203	4300	6503	SO:0001583	missense	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:211093374C>A	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.1070G>T	1.37:g.211093374C>A	ENSP00000271751:p.Arg357Leu					KCNH1_uc001hic.2_Missense_Mutation_p.R330L	p.R357L	NM_172362	NP_758872	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	7	1240	-			357			Helical; Voltage-sensor; Name=Segment S4; (Potential).		B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	c.1070G>T	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	C	32	5.142325	0.94560	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.99619	-6.28;-6.28	5.48	5.48	0.80851	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99658	0.9873	M	0.87328	2.875	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97924	1.0316	10	0.87932	D	0	.	18.3498	0.90335	0.0:1.0:0.0:0.0	.	330;357	Q14CL3;O95259	.;KCNH1_HUMAN	L	357;330	ENSP00000271751:R357L;ENSP00000355974:R330L	ENSP00000271751:R357L	R	-	2	0	KCNH1	209159997	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.538000	0.82048	2.581000	0.87130	0.655000	0.94253	CGG		0.567	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		29	62	1	0	6.39e-12	8.41e-12	29	62				
PROX1	5629	broad.mit.edu	37	1	214170119	214170119	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:214170119G>A	ENST00000366958.4	+	2	849	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K	PROX1_ENST00000498508.2_Missense_Mutation_p.E81K|PROX1_ENST00000261454.4_Missense_Mutation_p.E81K|PROX1_ENST00000435016.1_Missense_Mutation_p.E81K	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	81					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GAACTCGTATGAAGATGCCAT	0.478																																						uc001hkh.2		NA																	0				ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6						c.(241-243)GAA>AAA		prospero homeobox 1							89.0	85.0	87.0					1																	214170119		2203	4300	6503	SO:0001583	missense	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214170119G>A	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.241G>A	1.37:g.214170119G>A	ENSP00000355925:p.Glu81Lys					PROX1_uc001hkg.1_Missense_Mutation_p.E81K	p.E81K	NM_002763	NP_002754	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	2	513	+			81					A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	c.241G>A	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.081115	0.76528	.	.	ENSG00000117707	ENST00000471129;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.36303	0.0962	L	0.54323	1.7	0.80722	D	1	P	0.47253	0.892	P	0.50860	0.652	T	0.02081	-1.1217	10	0.72032	D	0.01	-4.296	20.3626	0.98863	0.0:0.0:1.0:0.0	.	81	Q92786	PROX1_HUMAN	K	81	ENSP00000419517:E81K;ENSP00000420283:E81K;ENSP00000355925:E81K;ENSP00000400694:E81K;ENSP00000261454:E81K	ENSP00000261454:E81K	E	+	1	0	PROX1	212236742	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.420000	0.97426	2.885000	0.99019	0.655000	0.94253	GAA		0.478	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		9	71	0	0	0	0	9	71				
PROX1	5629	broad.mit.edu	37	1	214170863	214170863	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:214170863G>A	ENST00000366958.4	+	2	1593	c.985G>A	c.(985-987)Ggc>Agc	p.G329S	PROX1_ENST00000498508.2_Missense_Mutation_p.G329S|PROX1_ENST00000261454.4_Missense_Mutation_p.G329S|PROX1_ENST00000435016.1_Missense_Mutation_p.G329S	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	329					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GAAGCGAGAAGGCAACAACAA	0.493																																						uc001hkh.2		NA																	0				ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6						c.(985-987)GGC>AGC		prospero homeobox 1							115.0	113.0	114.0					1																	214170863		2203	4300	6503	SO:0001583	missense	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214170863G>A	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.985G>A	1.37:g.214170863G>A	ENSP00000355925:p.Gly329Ser					PROX1_uc001hkg.1_Missense_Mutation_p.G329S	p.G329S	NM_002763	NP_002754	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	2	1257	+			329					A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	c.985G>A	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	G	4.524	0.097166	0.08681	.	.	ENSG00000117707	ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.48836	0.82;0.8;0.82;0.82	5.71	4.79	0.61399	.	0.148656	0.64402	N	0.000009	T	0.43033	0.1229	L	0.60455	1.87	0.58432	D	0.999998	B	0.14805	0.011	B	0.23716	0.048	T	0.27262	-1.0079	10	0.18710	T	0.47	-1.677	11.0254	0.47743	0.0713:0.1294:0.7993:0.0	.	329	Q92786	PROX1_HUMAN	S	329	ENSP00000420283:G329S;ENSP00000355925:G329S;ENSP00000400694:G329S;ENSP00000261454:G329S	ENSP00000261454:G329S	G	+	1	0	PROX1	212237486	1.000000	0.71417	0.992000	0.48379	0.231000	0.25187	5.304000	0.65744	1.389000	0.46526	0.563000	0.77884	GGC		0.493	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		9	50	0	0	0	0	9	50				
USH2A	7399	broad.mit.edu	37	1	215955411	215955411	+	Silent	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:215955411C>G	ENST00000307340.3	-	54	11099	c.10713G>C	c.(10711-10713)acG>acC	p.T3571T	USH2A_ENST00000366943.2_Silent_p.T3571T	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3571	Fibronectin type-III 20. {ECO:0000255|PROSITE-ProRule:PRU00316}.		T -> M (in USH2A). {ECO:0000269|PubMed:17085681, ECO:0000269|PubMed:17405132}.		hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGCCAGCAACCGTGCAAGCTT	0.443										HNSCC(13;0.011)																												uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(10711-10713)ACG>ACC		usherin isoform B							97.0	96.0	97.0					1																	215955411		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215955411C>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10713G>C	1.37:g.215955411C>G		HNSCC(13;0.011)					p.T3571T	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	54	11100	-			3571		T -> M (in USH2A).	Extracellular (Potential).|Fibronectin type-III 20.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.10713G>C	CCDS31025.1																																																																																				0.443	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		37	62	0	0	0	0	37	62				
USH2A	7399	broad.mit.edu	37	1	216258127	216258127	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:216258127G>T	ENST00000307340.3	-	25	5466	c.5080C>A	c.(5080-5082)Cag>Aag	p.Q1694K	RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.Q1694K|RP11-22M7.2_ENST00000430890.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1694	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCAGAACTCTGCCAATCCAGA	0.433										HNSCC(13;0.011)																												uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(5080-5082)CAG>AAG		usherin isoform B							123.0	121.0	122.0					1																	216258127		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216258127G>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5080C>A	1.37:g.216258127G>T	ENSP00000305941:p.Gln1694Lys	HNSCC(13;0.011)					p.Q1694K	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	25	5467	-			1694			Laminin G-like 1.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.5080C>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.462876	0.43736	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.79033	-1.23;-1.23	4.93	4.93	0.64822	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (1);	0.000000	0.42821	D	0.000644	T	0.76695	0.4023	L	0.57536	1.79	0.32832	D	0.5042	D	0.57257	0.979	P	0.49999	0.628	T	0.78735	-0.2088	10	0.21540	T	0.41	.	10.2178	0.43179	0.0:0.2523:0.6126:0.1351	.	1694	O75445	USH2A_HUMAN	K	1694	ENSP00000305941:Q1694K;ENSP00000355910:Q1694K	ENSP00000305941:Q1694K	Q	-	1	0	USH2A	214324750	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.453000	0.35167	2.292000	0.77174	0.650000	0.86243	CAG		0.433	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		54	88	1	0	3.46e-24	5.16e-24	54	88				
SPATA17	128153	broad.mit.edu	37	1	217822275	217822275	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:217822275A>T	ENST00000366933.4	+	2	175	c.120A>T	c.(118-120)caA>caT	p.Q40H		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	40	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.					cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		TTAAAATCCAAAGCTGGTTTC	0.303																																						uc001hlh.1		NA																	0				pancreas(1)	1						c.(118-120)CAA>CAT		spermatogenesis associated 17							117.0	117.0	117.0					1																	217822275		2203	4298	6501	SO:0001583	missense	128153					cytoplasm	calmodulin binding	g.chr1:217822275A>T	AK098591	CCDS1519.1	1q41	2008-02-05			ENSG00000162814	ENSG00000162814			25184	protein-coding gene	gene with protein product	"""IQ motif containing H"""	611032				16395525	Standard	NM_138796		Approved	IQCH	uc001hlh.1	Q96L03	OTTHUMG00000037875	ENST00000366933.4:c.120A>T	1.37:g.217822275A>T	ENSP00000355900:p.Gln40His					SPATA17_uc009xdr.1_RNA|SPATA17_uc001hli.2_Missense_Mutation_p.Q40H	p.Q40H	NM_138796	NP_620151	Q96L03	SPT17_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)	2	146	+			40			IQ 1.		A5D6N2	Missense_Mutation	SNP	ENST00000366933.4	37	c.120A>T	CCDS1519.1	.	.	.	.	.	.	.	.	.	.	A	16.84	3.234140	0.58886	.	.	ENSG00000162814	ENST00000366933	D	0.86297	-2.1	5.33	4.42	0.53409	.	0.000000	0.85682	D	0.000000	D	0.94192	0.8136	M	0.92880	3.355	0.37893	D	0.930762	D	0.89917	1.0	D	0.97110	1.0	D	0.95480	0.8559	10	0.87932	D	0	-25.4191	10.2767	0.43515	0.0918:0.0:0.9082:0.0	.	40	Q96L03	SPT17_HUMAN	H	40	ENSP00000355900:Q40H	ENSP00000355900:Q40H	Q	+	3	2	SPATA17	215888898	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	2.445000	0.44899	1.392000	0.46585	-0.137000	0.14449	CAA		0.303	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092433.2	NM_138796		25	60	0	0	0	0	25	60				
TRIM67	440730	broad.mit.edu	37	1	231335944	231335944	+	Silent	SNP	C	C	T	rs370010177		TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:231335944C>T	ENST00000366653.5	+	4	1314	c.1314C>T	c.(1312-1314)acC>acT	p.T438T	TRIM67_ENST00000366652.2_Silent_p.T438T|TRIM67_ENST00000449018.3_Silent_p.T376T|TRIM67_ENST00000444294.3_Silent_p.T438T			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	438					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GTCAGTCCACCGGACTGATGG	0.522																																						uc009xfn.1		NA																	0				ovary(2)|breast(1)|kidney(1)	4						c.(1312-1314)ACC>ACT		tripartite motif-containing 67		T		0,4026		0,0,2013	154.0	155.0	155.0		1314	-10.6	0.1	1		155	1,8351		0,1,4175	no	coding-synonymous	TRIM67	NM_001004342.3		0,1,6188	TT,TC,CC		0.012,0.0,0.0081		438/784	231335944	1,12377	2013	4176	6189	SO:0001819	synonymous_variant	440730					cytoplasm|cytoskeleton	zinc ion binding	g.chr1:231335944C>T	AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"""Tripartite motif containing / Tripartite motif containing"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	31859	protein-coding gene	gene with protein product		610584	"""tripartite motif-containing 67"""				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.1314C>T	1.37:g.231335944C>T							p.T438T	NM_001004342	NP_001004342	Q6ZTA4	TRI67_HUMAN			4	1356	+	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)	438					Q5TER7|Q5TER8|Q7Z4K7	Silent	SNP	ENST00000366653.5	37	c.1314C>T	CCDS44333.1																																																																																				0.522	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	NM_001004342		14	147	0	0	0	0	14	147				
RBM34	23029	broad.mit.edu	37	1	235324273	235324273	+	Missense_Mutation	SNP	G	G	A	rs537841016		TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:235324273G>A	ENST00000408888.3	-	2	393	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W	RBM34_ENST00000366606.3_Missense_Mutation_p.R50W			P42696	RBM34_HUMAN	RNA binding motif protein 34	55						nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			GACGCCAGCCGACCGGTGCCA	0.587																																						uc001hwn.2		NA																	0				central_nervous_system(1)	1						c.(163-165)CGG>TGG		RNA binding motif protein 34 isoform 1							46.0	50.0	49.0					1																	235324273		1932	4128	6060	SO:0001583	missense	23029					nucleolus	nucleotide binding|RNA binding	g.chr1:235324273G>A		CCDS41477.1, CCDS41477.2	1q42.3	2013-02-12			ENSG00000188739	ENSG00000188739		"""RNA binding motif (RRM) containing"""	28965	protein-coding gene	gene with protein product						7788527, 15134903	Standard	NM_015014		Approved	KIAA0117	uc001hwn.3	P42696	OTTHUMG00000039620	ENST00000408888.3:c.163C>T	1.37:g.235324273G>A	ENSP00000386226:p.Arg55Trp					RBM34_uc001hwo.2_RNA|ARID4B_uc001hwp.2_RNA|RBM34_uc010pxp.1_Missense_Mutation_p.R55W	p.R55W	NM_015014	NP_055829	P42696	RBM34_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)		2	193	-	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	55					A8K8J7|Q8N2Z8|Q9H5A1	Missense_Mutation	SNP	ENST00000408888.3	37	c.163C>T	CCDS41477.2	.	.	.	.	.	.	.	.	.	.	G	26.4	4.732529	0.89482	.	.	ENSG00000188739	ENST00000408888;ENST00000366606;ENST00000400947;ENST00000447801;ENST00000429912	T;T;T	0.15372	2.43;2.43;2.52	5.16	3.2	0.36748	.	0.645079	0.15518	N	0.258170	T	0.35941	0.0949	M	0.65975	2.015	0.22142	N	0.999333	D;D	0.89917	1.0;0.997	D;P	0.68483	0.958;0.723	T	0.08249	-1.0731	10	0.62326	D	0.03	-0.4721	9.5888	0.39532	0.0:0.1551:0.6837:0.1611	.	55;55	P42696-2;P42696	.;RBM34_HUMAN	W	55;50;55;53;55	ENSP00000386226:R55W;ENSP00000355565:R50W;ENSP00000400000:R53W	ENSP00000355565:R50W	R	-	1	2	RBM34	233390896	0.011000	0.17503	0.002000	0.10522	0.640000	0.38277	1.731000	0.38135	0.606000	0.29965	0.655000	0.94253	CGG		0.587	RBM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100146.1	NM_015014		16	61	0	0	0	0	16	61				
RYR2	6262	broad.mit.edu	37	1	237774236	237774236	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:237774236C>A	ENST00000366574.2	+	36	5175	c.4858C>A	c.(4858-4860)Cag>Aag	p.Q1620K	RYR2_ENST00000542537.1_Missense_Mutation_p.Q1604K|RYR2_ENST00000360064.6_Missense_Mutation_p.Q1618K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1620	4 X approximate repeats.				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)			CTGGTTGGTGCAGTGTTTGGA	0.502																																						uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(4858-4860)CAG>AAG		cardiac muscle ryanodine receptor							74.0	73.0	73.0					1																	237774236		1998	4180	6178	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.chr1:237774236C>A	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.4858C>A	1.37:g.237774236C>A	ENSP00000355533:p.Gln1620Lys						p.Q1620K	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		36	4978	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1620			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.4858C>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.153190	0.57259	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96587	-4.06;-4.03;-4.06	5.25	5.25	0.73442	.	0.000000	0.64402	D	0.000013	D	0.93618	0.7962	M	0.67953	2.075	0.80722	D	1	P	0.35383	0.498	B	0.33454	0.164	D	0.91169	0.4967	10	0.02654	T	1	.	14.6288	0.68640	0.0:0.8548:0.1452:0.0	.	1620	Q92736	RYR2_HUMAN	K	1620;1618;1604	ENSP00000355533:Q1620K;ENSP00000353174:Q1618K;ENSP00000443798:Q1604K	ENSP00000353174:Q1618K	Q	+	1	0	RYR2	235840859	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.806000	0.55583	2.717000	0.92951	0.655000	0.94253	CAG		0.502	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		5	14	1	0	2.01e-06	2.35e-06	5	14				
RYR2	6262	broad.mit.edu	37	1	237817705	237817705	+	Silent	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:237817705G>T	ENST00000366574.2	+	52	8273	c.7956G>T	c.(7954-7956)ctG>ctT	p.L2652L	RYR2_ENST00000542537.1_Silent_p.L2636L|RYR2_ENST00000360064.6_Silent_p.L2650L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2652	4 X approximate repeats.				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)			TTGATGCCCTGTCTCAAAAGG	0.378																																						uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(7954-7956)CTG>CTT		cardiac muscle ryanodine receptor							83.0	81.0	82.0					1																	237817705		1835	4087	5922	SO:0001819	synonymous_variant	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.chr1:237817705G>T	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.7956G>T	1.37:g.237817705G>T							p.L2652L	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		52	8076	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2652			Modulator (Potential).|Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.7956G>T	CCDS55691.1																																																																																				0.378	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		11	24	1	0	2.81e-09	3.52e-09	11	24				
RYR2	6262	broad.mit.edu	37	1	237843850	237843850	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:237843850C>G	ENST00000366574.2	+	62	9307	c.8990C>G	c.(8989-8991)tCc>tGc	p.S2997C	RYR2_ENST00000542537.1_Missense_Mutation_p.S2981C|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.S2995C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2997					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)			GGACATGCTTCCAACAAAGAG	0.388																																						uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(8989-8991)TCC>TGC		cardiac muscle ryanodine receptor							87.0	73.0	78.0					1																	237843850		1857	4112	5969	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.chr1:237843850C>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.8990C>G	1.37:g.237843850C>G	ENSP00000355533:p.Ser2997Cys					RYR2_uc010pxz.1_5'UTR	p.S2997C	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		62	9110	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2997			Modulator (Potential).|Cytoplasmic (By similarity).|Calmodulin-binding (Potential).		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.8990C>G	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.608666	0.87258	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.98060	-4.69;-4.67;-4.68	5.6	5.6	0.85130	.	0.000000	0.56097	U	0.000023	D	0.98632	0.9542	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99257	1.0889	10	0.54805	T	0.06	.	19.6297	0.95698	0.0:1.0:0.0:0.0	.	2997	Q92736	RYR2_HUMAN	C	2997;2995;2981	ENSP00000355533:S2997C;ENSP00000353174:S2995C;ENSP00000443798:S2981C	ENSP00000353174:S2995C	S	+	2	0	RYR2	235910473	1.000000	0.71417	0.985000	0.45067	0.970000	0.65996	7.776000	0.85560	2.644000	0.89710	0.655000	0.94253	TCC		0.388	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		9	8	0	0	0	0	9	8				
FMN2	56776	broad.mit.edu	37	1	240370334	240370334	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:240370334C>T	ENST00000319653.9	+	5	2452	c.2222C>T	c.(2221-2223)gCg>gTg	p.A741V		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	741					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ATTTTAGAGGCGAAATCGATA	0.567																																						uc010pyd.1		NA																	0				ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(2221-2223)GCG>GTG		formin 2							53.0	52.0	52.0					1																	240370334		2203	4300	6503	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240370334C>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2222C>T	1.37:g.240370334C>T	ENSP00000318884:p.Ala741Val					FMN2_uc010pye.1_Missense_Mutation_p.A745V	p.A741V	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	2447	+	Ovarian(103;0.127)	all_cancers(173;0.013)	741					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.2222C>T	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	C	8.846	0.943512	0.18281	.	.	ENSG00000155816	ENST00000447095;ENST00000319653	T	0.35605	1.3	5.06	4.08	0.47627	.	0.201479	0.34110	N	0.004253	T	0.27629	0.0679	L	0.40543	1.245	0.80722	D	1	B	0.24768	0.111	B	0.20955	0.032	T	0.07829	-1.0752	10	0.45353	T	0.12	.	9.6199	0.39714	0.0:0.768:0.1469:0.0851	.	741	Q9NZ56	FMN2_HUMAN	V	178;741	ENSP00000318884:A741V	ENSP00000318884:A741V	A	+	2	0	FMN2	238436957	0.770000	0.28543	0.963000	0.40424	0.011000	0.07611	0.831000	0.27476	2.639000	0.89480	0.655000	0.94253	GCG		0.567	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		10	27	0	0	0	0	10	27				
CHML	1122	broad.mit.edu	37	1	241798273	241798273	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:241798273G>C	ENST00000366553.1	-	1	959	c.796C>G	c.(796-798)Ctt>Gtt	p.L266V	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	266					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			CGAAATGCAAGAATCCTAGTG	0.358																																						uc001hzd.2		NA																	0				ovary(4)|skin(2)	6						c.(796-798)CTT>GTT		choroideremia-like Rab escort protein 2							48.0	48.0	48.0					1																	241798273		2203	4299	6502	SO:0001583	missense	1122				intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chr1:241798273G>C	X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.796C>G	1.37:g.241798273G>C	ENSP00000355511:p.Leu266Val					OPN3_uc001hza.2_Intron|OPN3_uc001hzb.2_Intron|OPN3_uc001hzc.2_Intron	p.L266V	NM_001821	NP_001812	P26374	RAE2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		1	960	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	266					B2RAB9|Q17RE0|Q9H1Y4	Missense_Mutation	SNP	ENST00000366553.1	37	c.796C>G	CCDS31073.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.742575	0.49151	.	.	ENSG00000203668	ENST00000366553	D	0.85773	-2.03	4.33	3.41	0.39046	.	0.000000	0.64402	U	0.000001	D	0.89904	0.6850	.	.	.	0.45883	D	0.998733	D	0.67145	0.996	D	0.74348	0.983	D	0.88992	0.3415	9	0.62326	D	0.03	.	6.2654	0.20924	0.0988:0.1888:0.7123:0.0	.	266	P26374	RAE2_HUMAN	V	266	ENSP00000355511:L266V	ENSP00000355511:L266V	L	-	1	0	CHML	239864896	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.436000	0.59948	1.386000	0.46466	0.655000	0.94253	CTT		0.358	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095712.1	NM_001821		19	36	0	0	0	0	19	36				
OR2G3	81469	broad.mit.edu	37	1	247769784	247769784	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:247769784G>C	ENST00000320002.2	+	1	929	c.897G>C	c.(895-897)gaG>gaC	p.E299D	RP11-978I15.10_ENST00000446347.1_RNA|RNU6-691P_ENST00000516585.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	299						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ATATGAAAGAGGCTCTGAGGA	0.408																																						uc010pyz.1		NA																	0				central_nervous_system(1)	1						c.(895-897)GAG>GAC		olfactory receptor, family 2, subfamily G,							74.0	76.0	75.0					1																	247769784		2203	4300	6503	SO:0001583	missense	81469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247769784G>C	BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476		"""GPCR / Class A : Olfactory receptors"""	15008	protein-coding gene	gene with protein product							Standard	NM_001001914		Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.897G>C	1.37:g.247769784G>C	ENSP00000326301:p.Glu299Asp						p.E299D	NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	897	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		299			Cytoplasmic (Potential).		B2RN64|Q5JQT1|Q6IF45	Missense_Mutation	SNP	ENST00000320002.2	37	c.897G>C	CCDS31093.1	.	.	.	.	.	.	.	.	.	.	G	4.217	0.039072	0.08148	.	.	ENSG00000177476	ENST00000320002	T	0.37584	1.19	3.65	-3.91	0.04168	.	0.988007	0.08196	N	0.983095	T	0.16471	0.0396	N	0.12853	0.265	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22347	-1.0219	10	0.51188	T	0.08	.	3.4004	0.07321	0.3534:0.0:0.2216:0.425	.	299	Q8NGZ4	OR2G3_HUMAN	D	299	ENSP00000326301:E299D	ENSP00000326301:E299D	E	+	3	2	OR2G3	245836407	0.000000	0.05858	0.000000	0.03702	0.422000	0.31414	-2.600000	0.00892	-0.519000	0.06444	-0.386000	0.06593	GAG		0.408	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097624.1			39	76	0	0	0	0	39	76				
OR2L3	391192	broad.mit.edu	37	1	248224349	248224349	+	Silent	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:248224349C>T	ENST00000359959.3	+	1	366	c.366C>T	c.(364-366)taC>taT	p.Y122Y	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ATGATCGTTACATTGCTATTT	0.448																																						uc001idx.1		NA																	0					0						c.(364-366)TAC>TAT		olfactory receptor, family 2, subfamily L,							273.0	272.0	273.0					1																	248224349		2203	4300	6503	SO:0001819	synonymous_variant	391192				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248224349C>T	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.366C>T	1.37:g.248224349C>T						OR2L13_uc001ids.2_Intron	p.Y122Y	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	366	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		122			Cytoplasmic (Potential).		B9EH44	Silent	SNP	ENST00000359959.3	37	c.366C>T	CCDS31104.1																																																																																				0.448	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687		100	141	0	0	0	0	100	141				
OR2M2	391194	broad.mit.edu	37	1	248343675	248343675	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:248343675C>A	ENST00000359682.2	+	1	388	c.388C>A	c.(388-390)Cta>Ata	p.L130I		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	130						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TTGCCACCCTCTAAGATATAC	0.403																																						uc010pzf.1		NA																	0				ovary(3)|skin(1)	4						c.(388-390)CTA>ATA		olfactory receptor, family 2, subfamily M,							216.0	225.0	222.0					1																	248343675		2203	4300	6503	SO:0001583	missense	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248343675C>A	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.388C>A	1.37:g.248343675C>A	ENSP00000352710:p.Leu130Ile						p.L130I	NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	388	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		130			Cytoplasmic (Potential).		A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	c.388C>A	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	c	11.99	1.802195	0.31869	.	.	ENSG00000198601	ENST00000359682	T	0.01474	4.85	1.88	-0.295	0.12828	GPCR, rhodopsin-like superfamily (1);	0.000000	0.25096	U	0.033176	T	0.14743	0.0356	H	0.98664	4.295	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.05354	-1.0890	10	0.87932	D	0	.	6.7244	0.23348	0.0:0.6212:0.0:0.3788	.	130	Q96R28	OR2M2_HUMAN	I	130	ENSP00000352710:L130I	ENSP00000352710:L130I	L	+	1	2	OR2M2	246410298	0.008000	0.16893	0.000000	0.03702	0.001000	0.01503	0.069000	0.14552	-0.243000	0.09653	-0.479000	0.04858	CTA		0.403	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		133	263	1	0	1.15e-51	1.8e-51	133	263				
OR2M7	391196	broad.mit.edu	37	1	248487047	248487047	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:248487047G>A	ENST00000317965.2	-	1	852	c.824C>T	c.(823-825)tCt>tTt	p.S275F		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	275						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTAGAATACAGACACCATCTT	0.463																																						uc010pzk.1		NA																	0				skin(2)	2						c.(823-825)TCT>TTT		olfactory receptor, family 2, subfamily M,							127.0	116.0	120.0					1																	248487047		2203	4300	6503	SO:0001583	missense	391196				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248487047G>A	BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"""GPCR / Class A : Olfactory receptors"""	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.824C>T	1.37:g.248487047G>A	ENSP00000324557:p.Ser275Phe						p.S275F	NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	824	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		275			Helical; Name=7; (Potential).		B2RNL0|Q6IEX6	Missense_Mutation	SNP	ENST00000317965.2	37	c.824C>T	CCDS31111.1	.	.	.	.	.	.	.	.	.	.	G	7.341	0.620924	0.14193	.	.	ENSG00000177186	ENST00000317965	T	0.00274	8.35	1.55	1.55	0.23275	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00845	0.0028	M	0.92169	3.28	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.27502	-1.0072	9	0.87932	D	0	.	10.9428	0.47283	0.0:0.0:1.0:0.0	.	275	Q8NG81	OR2M7_HUMAN	F	275	ENSP00000324557:S275F	ENSP00000324557:S275F	S	-	2	0	OR2M7	246553670	0.003000	0.15002	0.242000	0.24170	0.071000	0.16799	1.226000	0.32563	0.850000	0.35239	0.194000	0.17425	TCT		0.463	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097357.1	NM_001004691		43	64	0	0	0	0	43	64				
OR2T10	127069	broad.mit.edu	37	1	248756557	248756557	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:248756557G>A	ENST00000330500.2	-	1	543	c.513C>T	c.(511-513)tcC>tcT	p.S171S	Y_RNA_ENST00000364732.1_RNA	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	171						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)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAATCTCATGGGATCTGCAGA	0.502																																						uc010pzn.1		NA																	0				skin(1)	1						c.(511-513)TCC>TCT		olfactory receptor, family 2, subfamily T,							96.0	106.0	102.0					1																	248756557		2045	4233	6278	SO:0001819	synonymous_variant	127069				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248756557G>A		CCDS31121.1	1q44	2012-08-09			ENSG00000184022	ENSG00000184022		"""GPCR / Class A : Olfactory receptors"""	19573	protein-coding gene	gene with protein product							Standard	NM_001004693		Approved		uc010pzn.2	Q8NGZ9	OTTHUMG00000040388	ENST00000330500.2:c.513C>T	1.37:g.248756557G>A							p.S171S	NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	513	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		171			Extracellular (Potential).		B2RNK7	Silent	SNP	ENST00000330500.2	37	c.513C>T	CCDS31121.1																																																																																				0.502	OR2T10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097139.1	NM_001004693		49	94	0	0	0	0	49	94				
LARP4B	23185	broad.mit.edu	37	10	875449	875449	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr10:875449T>A	ENST00000316157.3	-	10	1041	c.1001A>T	c.(1000-1002)cAg>cTg	p.Q334L		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	334					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						GTAGCGCTGCTGGGCATACAG	0.517																																						uc001ifs.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1000-1002)CAG>CTG		La ribonucleoprotein domain family, member 4B							111.0	87.0	95.0					10																	875449		2203	4300	6503	SO:0001583	missense	23185						nucleotide binding|RNA binding	g.chr10:875449T>A	D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"""La ribonucleoprotein domain containing"""	28987	protein-coding gene	gene with protein product			"""KIAA0217"", ""La ribonucleoprotein domain family, member 5"""	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.1001A>T	10.37:g.875449T>A	ENSP00000326128:p.Gln334Leu						p.Q334L	NM_015155	NP_055970	Q92615	LAR4B_HUMAN			10	1042	-			334					A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Missense_Mutation	SNP	ENST00000316157.3	37	c.1001A>T	CCDS31131.1	.	.	.	.	.	.	.	.	.	.	T	18.26	3.585690	0.66105	.	.	ENSG00000107929	ENST00000316157	T	0.37058	1.22	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.56352	0.1979	L	0.57536	1.79	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	T	0.59284	-0.7483	10	0.72032	D	0.01	-7.6466	15.7306	0.77800	0.0:0.0:0.0:1.0	.	334	Q92615	LAR4B_HUMAN	L	334	ENSP00000326128:Q334L	ENSP00000326128:Q334L	Q	-	2	0	LARP4B	865449	1.000000	0.71417	0.997000	0.53966	0.108000	0.19459	6.151000	0.71806	2.172000	0.68678	0.533000	0.62120	CAG		0.517	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2	NM_015155		38	19	0	0	0	0	38	19				
TAF3	83860	broad.mit.edu	37	10	8006089	8006089	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr10:8006089G>A	ENST00000344293.5	+	3	822	c.616G>A	c.(616-618)Gat>Aat	p.D206N		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	206					maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						GGACACGCTAGATGTTGTGTT	0.478																																						uc010qbd.1		NA																	0				ovary(1)	1						c.(616-618)GAT>AAT		RNA polymerase II transcription factor TAFII140							86.0	86.0	86.0					10																	8006089		1949	4141	6090	SO:0001583	missense	83860				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	g.chr10:8006089G>A	AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"""Zinc fingers, PHD-type"""	17303	protein-coding gene	gene with protein product		606576	"""TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"""			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.616G>A	10.37:g.8006089G>A	ENSP00000340271:p.Asp206Asn						p.D206N	NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN			3	616	+			206					Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Missense_Mutation	SNP	ENST00000344293.5	37	c.616G>A	CCDS41487.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.548902	0.45383	.	.	ENSG00000165632	ENST00000344293;ENST00000542889	T	0.21932	1.98	5.67	5.67	0.87782	.	0.077835	0.52532	D	0.000065	T	0.48750	0.1517	M	0.75447	2.3	0.53688	D	0.999975	D	0.89917	1.0	D	0.83275	0.996	T	0.24584	-1.0156	10	0.29301	T	0.29	-22.4755	19.7681	0.96350	0.0:0.0:1.0:0.0	.	206	Q5VWG9	TAF3_HUMAN	N	206	ENSP00000340271:D206N	ENSP00000340271:D206N	D	+	1	0	TAF3	8046095	1.000000	0.71417	0.301000	0.25044	0.020000	0.10135	7.008000	0.76341	2.686000	0.91538	0.655000	0.94253	GAT		0.478	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923		36	28	0	0	0	0	36	28				
ARMC3	219681	broad.mit.edu	37	10	23248003	23248003	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr10:23248003T>A	ENST00000298032.5	+	5	381	c.297T>A	c.(295-297)gaT>gaA	p.D99E	ARMC3_ENST00000376528.4_5'UTR|ARMC3_ENST00000464017.1_3'UTR|ARMC3_ENST00000409049.3_Missense_Mutation_p.D99E|ARMC3_ENST00000409983.3_Missense_Mutation_p.D99E	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	99						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTGTAGATGATGTTAAAAAAT	0.373																																						uc001irm.3		NA																	0					0						c.(295-297)GAT>GAA		armadillo repeat containing 3							89.0	92.0	91.0					10																	23248003		2203	4299	6502	SO:0001583	missense	219681						binding	g.chr10:23248003T>A	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.297T>A	10.37:g.23248003T>A	ENSP00000298032:p.Asp99Glu					ARMC3_uc010qcv.1_Missense_Mutation_p.D99E|ARMC3_uc010qcw.1_5'UTR|ARMC3_uc001irn.1_Missense_Mutation_p.D11E	p.D99E	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN			5	380	+			99			ARM 3.		A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	ENST00000298032.5	37	c.297T>A	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	C	9.430	1.085333	0.20390	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376523;ENST00000409049;ENST00000447081	T;T;T;T	0.46819	0.97;0.97;1.38;0.86	5.25	-9.76	0.00503	Armadillo-like helical (1);Armadillo-type fold (1);	0.212708	0.47852	N	0.000220	T	0.21550	0.0519	L	0.39898	1.24	0.80722	D	1	B;B;P	0.45044	0.207;0.151;0.849	B;B;B	0.40009	0.155;0.036;0.316	T	0.56341	-0.7995	10	0.10902	T	0.67	-21.0056	3.3569	0.07172	0.1583:0.31:0.081:0.4508	.	99;11;99	Q5W041-4;C9JC46;Q5W041	.;.;ARMC3_HUMAN	E	99;99;99;99;11	ENSP00000298032:D99E;ENSP00000386943:D99E;ENSP00000387288:D99E;ENSP00000396629:D11E	ENSP00000298032:D99E	D	+	3	2	ARMC3	23288009	0.783000	0.28701	0.295000	0.24960	0.066000	0.16364	-0.260000	0.08708	-2.399000	0.00580	-2.341000	0.00245	GAT		0.373	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081		30	27	0	0	0	0	30	27				
PARD3	56288	broad.mit.edu	37	10	34671813	34671813	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr10:34671813T>C	ENST00000374789.3	-	9	1379	c.1054A>G	c.(1054-1056)Atc>Gtc	p.I352V	PARD3_ENST00000544292.1_Missense_Mutation_p.I82V|PARD3_ENST00000346874.4_Missense_Mutation_p.I352V|PARD3_ENST00000545693.1_Missense_Mutation_p.I352V|PARD3_ENST00000374776.1_Missense_Mutation_p.I352V|PARD3_ENST00000374788.3_Missense_Mutation_p.I352V|PARD3_ENST00000340077.5_Missense_Mutation_p.I352V|PARD3_ENST00000545260.1_Missense_Mutation_p.I308V|PARD3_ENST00000350537.4_Missense_Mutation_p.I352V|PARD3_ENST00000374773.1_Missense_Mutation_p.I352V|PARD3_ENST00000374790.3_Missense_Mutation_p.I308V|PARD3_ENST00000374794.3_Missense_Mutation_p.I308V	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	352	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				AACCAAATGATGGGTGTACGC	0.398																																						uc010qej.1		NA																	0				ovary(1)	1						c.(1054-1056)ATC>GTC		partitioning-defective protein 3 homolog							150.0	140.0	143.0					10																	34671813		2203	4300	6503	SO:0001583	missense	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34671813T>C	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.1054A>G	10.37:g.34671813T>C	ENSP00000363921:p.Ile352Val					PARD3_uc010qek.1_Missense_Mutation_p.I352V|PARD3_uc010qel.1_Missense_Mutation_p.I352V|PARD3_uc010qem.1_Missense_Mutation_p.I352V|PARD3_uc010qen.1_Missense_Mutation_p.I352V|PARD3_uc010qeo.1_Missense_Mutation_p.I352V|PARD3_uc010qep.1_Missense_Mutation_p.I308V|PARD3_uc010qeq.1_Missense_Mutation_p.I308V|PARD3_uc001ixo.1_Missense_Mutation_p.I82V|PARD3_uc001ixp.1_Missense_Mutation_p.I217V|PARD3_uc001ixq.1_Missense_Mutation_p.I352V|PARD3_uc001ixr.1_Missense_Mutation_p.I352V|PARD3_uc001ixt.1_Missense_Mutation_p.I173V|PARD3_uc001ixu.1_Missense_Mutation_p.I308V|PARD3_uc001ixs.1_Missense_Mutation_p.I5V	p.I352V	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN			9	1054	-		Breast(68;0.0707)	352			PDZ 1.		F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	ENST00000374789.3	37	c.1054A>G	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	T	5.444	0.267006	0.10294	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773;ENST00000544292	D;D;D;D;D;D;D;D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57;-1.57;-1.57;-1.57;-1.57;-1.57;-1.57;-1.57	5.73	0.724	0.18236	PDZ/DHR/GLGF (2);	0.326816	0.36268	N	0.002697	T	0.47875	0.1469	N	0.01109	-1.01	0.28091	N	0.931793	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.08055	0.001;0.002;0.003;0.001;0.003;0.001;0.001;0.001;0.001;0.001;0.002;0.001;0.001;0.001;0.001	T	0.40459	-0.9562	10	0.14656	T	0.56	.	1.8886	0.03243	0.1253:0.2103:0.1167:0.5477	.	308;308;352;352;352;352;352;352;308;352;352;352;352;352;82	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q5VWV2;Q6IQ47;Q5VWU8;Q8TEW0-8;Q8TEW0-9;Q8TEW0-10;F5GZI3	.;.;.;.;.;.;.;PARD3_HUMAN;.;.;.;.;.;.;.	V	352;308;352;352;352;308;352;308;352;352;352;82	ENSP00000443147:I352V;ENSP00000440857:I308V;ENSP00000363921:I352V;ENSP00000363920:I352V;ENSP00000340591:I352V;ENSP00000363926:I308V;ENSP00000311986:I352V;ENSP00000363922:I308V;ENSP00000363908:I352V;ENSP00000341844:I352V;ENSP00000363905:I352V;ENSP00000444429:I82V	ENSP00000341844:I352V	I	-	1	0	PARD3	34711819	0.948000	0.32251	0.924000	0.36721	0.993000	0.82548	1.063000	0.30567	-0.112000	0.11979	0.528000	0.53228	ATC		0.398	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		66	50	0	0	0	0	66	50				
ZNF32	7580	broad.mit.edu	37	10	44140211	44140211	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr10:44140211C>T	ENST00000395797.1	-	3	297	c.109G>A	c.(109-111)Gag>Aag	p.E37K	ZNF32-AS2_ENST00000418966.1_RNA|ZNF32_ENST00000485351.1_5'UTR|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32-AS1_ENST00000453284.1_RNA|ZNF32_ENST00000374433.2_Missense_Mutation_p.E37K	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	37					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)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		CCTGTAGCCTCAGAGTGGTCA	0.418																																						uc001jbb.2		NA																	0				ovary(1)	1						c.(109-111)GAG>AAG		zinc finger protein 32							70.0	74.0	72.0					10																	44140211		2201	4295	6496	SO:0001583	missense	7580				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr10:44140211C>T	U69645	CCDS7206.1	10q22-q25	2013-01-08	2006-05-11		ENSG00000169740	ENSG00000169740		"""Zinc fingers, C2H2-type"""	13095	protein-coding gene	gene with protein product		194539	"""zinc finger protein 32 (KOX 30)"""				Standard	XM_005271822		Approved	KOX30	uc001jbc.3	P17041	OTTHUMG00000018043	ENST00000395797.1:c.109G>A	10.37:g.44140211C>T	ENSP00000379143:p.Glu37Lys					uc001jba.2_Intron|ZNF32_uc001jbc.2_Missense_Mutation_p.E37K	p.E37K	NM_001005368	NP_001005368	P17041	ZNF32_HUMAN		Lung(62;0.179)	3	298	-		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)	37					Q92951	Missense_Mutation	SNP	ENST00000395797.1	37	c.109G>A	CCDS7206.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.263395	0.39995	.	.	ENSG00000169740	ENST00000374433;ENST00000395797	T;T	0.08102	3.13;3.13	4.37	4.37	0.52481	.	0.171926	0.27981	N	0.017065	T	0.04318	0.0119	N	0.08118	0	0.35473	D	0.797477	B	0.32409	0.37	B	0.19148	0.024	T	0.35847	-0.9772	10	0.87932	D	0	-9.2233	12.7449	0.57276	0.0:1.0:0.0:0.0	.	37	P17041	ZNF32_HUMAN	K	37	ENSP00000363556:E37K;ENSP00000379143:E37K	ENSP00000363556:E37K	E	-	1	0	ZNF32	43460217	0.987000	0.35691	0.991000	0.47740	0.831000	0.47069	1.100000	0.31025	2.713000	0.92767	0.655000	0.94253	GAG		0.418	ZNF32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047723.1	NM_006973		14	90	0	0	0	0	14	90				
CHAT	1103	broad.mit.edu	37	10	50863176	50863176	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr10:50863176C>T	ENST00000337653.2	+	12	1823	c.1670C>T	c.(1669-1671)gCg>gTg	p.A557V	CHAT_ENST00000395559.2_Missense_Mutation_p.A439V|CHAT_ENST00000455728.2_Missense_Mutation_p.A439V|CHAT_ENST00000395562.2_Missense_Mutation_p.A475V|CHAT_ENST00000339797.1_Missense_Mutation_p.A439V|CHAT_ENST00000351556.3_Missense_Mutation_p.A439V	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	557					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)	p.A557V(1)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	TACGAGAGCGCGTCCATCCGC	0.547																																						uc001jhz.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	central_nervous_system(3)	3						c.(1669-1671)GCG>GTG		choline acetyltransferase isoform 2	Choline(DB00122)						56.0	56.0	56.0					10																	50863176		2203	4300	6503	SO:0001583	missense	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50863176C>T	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.1670C>T	10.37:g.50863176C>T	ENSP00000337103:p.Ala557Val					CHAT_uc001jhv.1_Missense_Mutation_p.A439V|CHAT_uc001jhx.1_Missense_Mutation_p.A439V|CHAT_uc001jhy.1_Missense_Mutation_p.A439V|CHAT_uc001jia.2_Missense_Mutation_p.A439V|CHAT_uc010qgs.1_Missense_Mutation_p.A439V	p.A557V	NM_020549	NP_065574	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	12	1823	+		all_neural(218;0.107)	557					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	ENST00000337653.2	37	c.1670C>T	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	C	32	5.110207	0.94292	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	D;D;D;D;D;D	0.94138	-3.36;-3.36;-3.36;-3.36;-3.36;-3.36	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.97105	0.9054	M	0.85542	2.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.97631	1.0142	10	0.87932	D	0	-22.8974	19.0718	0.93140	0.0:1.0:0.0:0.0	.	439;557	F8W8I2;P28329	.;CLAT_HUMAN	V	439;439;439;557;475;439	ENSP00000343486:A439V;ENSP00000345878:A439V;ENSP00000378926:A439V;ENSP00000337103:A557V;ENSP00000378929:A475V;ENSP00000390521:A439V	ENSP00000337103:A557V	A	+	2	0	CHAT	50533182	1.000000	0.71417	0.112000	0.21494	0.742000	0.42306	7.818000	0.86416	2.514000	0.84764	0.591000	0.81541	GCG		0.547	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		15	45	0	0	0	0	15	45				
DUPD1	338599	broad.mit.edu	37	10	76803730	76803730	+	Silent	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr10:76803730C>T	ENST00000338487.5	-	2	245	c.246G>A	c.(244-246)acG>acA	p.T82T		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	82	Tyrosine-protein phosphatase.				protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TCAGCACGTGCGTGAACCCCG	0.711																																						uc001jwq.1		NA																	0				ovary(2)	2						c.(244-246)ACG>ACA		dual specificity phosphatase and pro isomerase							49.0	52.0	51.0					10																	76803730		2203	4299	6502	SO:0001819	synonymous_variant	338599					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:76803730C>T		CCDS31223.1	10q22.3	2011-06-09			ENSG00000188716	ENSG00000188716		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	23481	protein-coding gene	gene with protein product							Standard	NM_001003892		Approved	DUSP27	uc001jwq.1	Q68J44	OTTHUMG00000018512	ENST00000338487.5:c.246G>A	10.37:g.76803730C>T							p.T82T	NM_001003892	NP_001003892	Q68J44	DUPD1_HUMAN			2	246	-	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		82			Tyrosine-protein phosphatase.		B2RP93	Silent	SNP	ENST00000338487.5	37	c.246G>A	CCDS31223.1																																																																																				0.711	DUPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048777.2	XM_291741		13	13	0	0	0	0	13	13				
MAT1A	4143	broad.mit.edu	37	10	82039969	82039969	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr10:82039969G>C	ENST00000372213.3	-	5	769	c.509C>G	c.(508-510)tCc>tGc	p.S170C		NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	170					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	GAGGAGGCCGGAGCGCCTGAG	0.577																																						uc001kbw.2		NA																	0					0						c.(508-510)TCC>TGC		methionine adenosyltransferase I, alpha	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)						71.0	79.0	76.0					10																	82039969		2203	4300	6503	SO:0001583	missense	4143				methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity	g.chr10:82039969G>C		CCDS7365.1	10q22	2008-08-01			ENSG00000151224	ENSG00000151224			6903	protein-coding gene	gene with protein product	"""S-adenosylmethionine synthetase"""	610550				8393662	Standard	XM_005269842		Approved	MAT, SAMS, MATA1, SAMS1	uc001kbw.3	Q00266	OTTHUMG00000018613	ENST00000372213.3:c.509C>G	10.37:g.82039969G>C	ENSP00000361287:p.Ser170Cys						p.S170C	NM_000429	NP_000420	Q00266	METK1_HUMAN	Colorectal(32;0.229)		5	764	-			170					D3DWD5|Q5QP09	Missense_Mutation	SNP	ENST00000372213.3	37	c.509C>G	CCDS7365.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.154776	0.38021	.	.	ENSG00000151224	ENST00000372213;ENST00000372206;ENST00000455001	D;D	0.83673	-1.75;-1.75	4.91	4.91	0.64330	S-adenosylmethionine synthetase, central domain (1);S-adenosylmethionine synthetase superfamily (1);	0.736570	0.13364	N	0.393454	D	0.89574	0.6754	M	0.92412	3.305	0.47819	D	0.999529	P	0.34997	0.479	P	0.44359	0.447	D	0.90299	0.4328	10	0.87932	D	0	-5.3526	11.0997	0.48166	0.0:0.0:0.815:0.185	.	170	Q00266	METK1_HUMAN	C	170;170;107	ENSP00000361287:S170C;ENSP00000414961:S107C	ENSP00000361280:S170C	S	-	2	0	MAT1A	82029949	0.980000	0.34600	0.644000	0.29465	0.033000	0.12548	3.806000	0.55583	2.442000	0.82660	0.655000	0.94253	TCC		0.577	MAT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049070.1	NM_000429		48	29	0	0	0	0	48	29				
GRID1	2894	broad.mit.edu	37	10	87614373	87614373	+	Splice_Site	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr10:87614373C>A	ENST00000327946.7	-	8	1199		c.e8-1			NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1						ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						TGATGTGGCCCTGCAGAAGAG	0.498										Multiple Myeloma(13;0.14)																												uc001kdl.1		NA																	0				ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10						c.e8-1		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						80.0	76.0	77.0					10																	87614373		2203	4300	6503	SO:0001630	splice_region_variant	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87614373C>A	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.1114-1G>T	10.37:g.87614373C>A		Multiple Myeloma(13;0.14)				GRID1_uc009xsu.1_Splice_Site	p.G372_splice	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN			8	1215	-								B3KXD5|B7Z7L0|Q8IXT3	Splice_Site	SNP	ENST00000327946.7	37	c.1114_splice	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.413406	0.83449	.	.	ENSG00000182771	ENST00000327946	.	.	.	5.82	4.92	0.64577	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2624	0.82553	0.0:0.8676:0.1324:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GRID1	87604353	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.787000	0.85759	1.452000	0.47756	0.655000	0.94253	.		0.498	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613	Intron	23	9	1	0	5.35e-11	6.91e-11	23	9				
OPALIN	93377	broad.mit.edu	37	10	98105775	98105775	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr10:98105775C>T	ENST00000371172.3	-	6	754	c.349G>A	c.(349-351)Gac>Aac	p.D117N	OPALIN_ENST00000393870.2_Missense_Mutation_p.D106N|OPALIN_ENST00000419479.1_Missense_Mutation_p.D107N|OPALIN_ENST00000536387.1_Missense_Mutation_p.D107N|OPALIN_ENST00000393871.1_Missense_Mutation_p.D94N	NM_001284326.1|NM_001284327.1|NM_033207.3	NP_001271255.1|NP_001271256.1|NP_149984.1	Q96PE5	OPALI_HUMAN	oligodendrocytic myelin paranodal and inner loop protein	117						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|large_intestine(1)|lung(5)|prostate(2)	9						CGGTAACGGTCATGCACAGGT	0.507																																						uc001kmj.2		NA																	0					0						c.(349-351)GAC>AAC		transmembrane protein 10 isoform a							200.0	170.0	180.0					10																	98105775		2203	4300	6503	SO:0001583	missense	93377					Golgi apparatus|integral to membrane|plasma membrane		g.chr10:98105775C>T	AF367761	CCDS7448.1, CCDS41556.1, CCDS44466.1, CCDS60602.1, CCDS73172.1, CCDS73173.1	10q23-q24	2010-11-23	2008-05-01	2008-05-01	ENSG00000197430	ENSG00000197430			20707	protein-coding gene	gene with protein product			"""transmembrane protein 10"""	TMEM10		11814680, 17442045	Standard	NM_001284324		Approved	TMP10, HTMP10	uc001kmj.3	Q96PE5	OTTHUMG00000018831	ENST00000371172.3:c.349G>A	10.37:g.98105775C>T	ENSP00000360214:p.Asp117Asn					OPALIN_uc010qor.1_Missense_Mutation_p.D107N|OPALIN_uc001kmi.2_Missense_Mutation_p.D107N|OPALIN_uc001kmk.2_Missense_Mutation_p.D94N|OPALIN_uc010qos.1_RNA	p.D117N	NM_033207	NP_149984	Q96PE5	OPALI_HUMAN			6	788	-			117					A8MX69|A8MYG4|B4DK96|B4DKH0|Q5W102	Missense_Mutation	SNP	ENST00000371172.3	37	c.349G>A	CCDS7448.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.853103	0.51270	.	.	ENSG00000197430	ENST00000371172;ENST00000393871;ENST00000419479;ENST00000393870;ENST00000536387	.	.	.	4.12	4.12	0.48240	.	0.000000	0.52532	D	0.000068	T	0.52306	0.1726	L	0.36672	1.1	0.09310	N	0.999999	D;D;D	0.89917	1.0;1.0;0.989	D;D;P	0.87578	0.998;0.998;0.835	T	0.40590	-0.9555	9	0.87932	D	0	-17.4462	12.0664	0.53590	0.0:1.0:0.0:0.0	.	94;117;107	A8MYG4;Q96PE5;B4DK96	.;OPALI_HUMAN;.	N	117;94;107;106;107	.	ENSP00000360214:D117N	D	-	1	0	OPALIN	98095765	0.306000	0.24490	0.118000	0.21660	0.254000	0.26022	3.159000	0.50731	2.293000	0.77203	0.650000	0.86243	GAC		0.507	OPALIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049606.1	NM_033207		59	41	0	0	0	0	59	41				
GBF1	8729	broad.mit.edu	37	10	104120033	104120033	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr10:104120033G>A	ENST00000369983.3	+	12	1530	c.1270G>A	c.(1270-1272)Gag>Aag	p.E424K	GBF1_ENST00000476019.1_Intron	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	424					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CCATAACTCAGAGGTTATGAT	0.562																																						uc001kux.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1270-1272)GAG>AAG		golgi-specific brefeldin A resistant guanine							266.0	260.0	262.0					10																	104120033		2203	4300	6503	SO:0001583	missense	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104120033G>A	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.1270G>A	10.37:g.104120033G>A	ENSP00000359000:p.Glu424Lys					GBF1_uc001kuw.2_3'UTR|GBF1_uc001kuy.1_Missense_Mutation_p.E424K|GBF1_uc001kuz.1_Missense_Mutation_p.E425K	p.E424K	NM_004193	NP_004184	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	12	1510	+		Colorectal(252;0.0236)	424					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	c.1270G>A	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	G	35	5.597088	0.96602	.	.	ENSG00000107862	ENST00000369983	T	0.68181	-0.31	5.48	5.48	0.80851	.	0.092182	0.64402	D	0.000001	T	0.74076	0.3669	M	0.62154	1.92	0.80722	D	1	P;P;P	0.50819	0.708;0.812;0.939	B;P;P	0.51453	0.398;0.453;0.67	T	0.72007	-0.4420	10	0.33940	T	0.23	-16.7008	19.4065	0.94649	0.0:0.0:1.0:0.0	.	424;424;424	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	K	424	ENSP00000359000:E424K	ENSP00000359000:E424K	E	+	1	0	GBF1	104110023	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.826000	0.99387	2.580000	0.87095	0.650000	0.86243	GAG		0.562	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			183	89	0	0	0	0	183	89				
TRIM8	81603	broad.mit.edu	37	10	104416663	104416663	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr10:104416663C>T	ENST00000302424.7	+	6	1330	c.1208C>T	c.(1207-1209)gCg>gTg	p.A403V	TRIM8_ENST00000487927.1_3'UTR	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	403					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|PML body (GO:0016605)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TACGGGGCGGCGGGCACAGCC	0.711																																						uc001kvz.2		NA																	0				ovary(1)	1						c.(1207-1209)GCG>GTG		tripartite motif-containing 8							31.0	39.0	36.0					10																	104416663		2190	4281	6471	SO:0001583	missense	81603					cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding	g.chr10:104416663C>T	AF281046	CCDS31274.1	10q24.3	2013-01-09	2011-01-25	2002-06-14	ENSG00000171206	ENSG00000171206		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15579	protein-coding gene	gene with protein product	"""glioblastoma expressed ring finger protein"""	606125	"""ring finger protein 27"", ""tripartite motif-containing 8"""	RNF27		11118312, 12163497	Standard	NM_030912		Approved	GERP	uc001kvz.2	Q9BZR9	OTTHUMG00000018964	ENST00000302424.7:c.1208C>T	10.37:g.104416663C>T	ENSP00000302120:p.Ala403Val						p.A403V	NM_030912	NP_112174	Q9BZR9	TRIM8_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	6	1331	+		Colorectal(252;0.122)	403					A6NI31|Q9C028	Missense_Mutation	SNP	ENST00000302424.7	37	c.1208C>T	CCDS31274.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.324656	0.41197	.	.	ENSG00000171206	ENST00000302424;ENST00000369896	T	0.79033	-1.23	5.16	4.2	0.49525	.	0.252609	0.40728	N	0.001035	T	0.55386	0.1917	N	0.08118	0	0.36412	D	0.86381	B	0.24368	0.102	B	0.15484	0.013	T	0.60702	-0.7211	10	0.49607	T	0.09	.	7.9311	0.29904	0.3138:0.5581:0.1281:0.0	.	403	Q9BZR9	TRIM8_HUMAN	V	403;402	ENSP00000302120:A403V	ENSP00000302120:A403V	A	+	2	0	TRIM8	104406653	0.870000	0.30015	0.952000	0.39060	0.987000	0.75469	1.361000	0.34136	2.408000	0.81797	0.491000	0.48974	GCG		0.711	TRIM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050084.3	NM_030912		38	23	0	0	0	0	38	23				
GFRA1	2674	broad.mit.edu	37	10	117885028	117885028	+	Silent	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr10:117885028C>T	ENST00000355422.6	-	6	1024	c.474G>A	c.(472-474)gcG>gcA	p.A158A	GFRA1_ENST00000439649.3_Silent_p.A153A|GFRA1_ENST00000369236.1_Silent_p.A153A|GFRA1_ENST00000544592.1_Silent_p.A37A	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	158					axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		TGCAGGCCTTCGCTGCATCCA	0.557																																					Ovarian(128;329 1725 45498 46808 50759)	uc001lcj.2		NA																	0				ovary(1)|pancreas(1)	2						c.(472-474)GCG>GCA		GDNF family receptor alpha 1 isoform a							57.0	49.0	52.0					10																	117885028		2203	4300	6503	SO:0001819	synonymous_variant	2674				axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity	g.chr10:117885028C>T	AF038421	CCDS7593.1, CCDS44481.1	10q25-q26	2011-01-25			ENSG00000151892	ENSG00000151892			4243	protein-coding gene	gene with protein product		601496		GDNFRA		9465905, 9545641	Standard	NM_005264		Approved	RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1	uc001lcj.3	P56159	OTTHUMG00000019097	ENST00000355422.6:c.474G>A	10.37:g.117885028C>T						GFRA1_uc001lci.2_Silent_p.A153A|GFRA1_uc009xyr.2_Silent_p.A153A	p.A158A	NM_005264	NP_005255	P56159	GFRA1_HUMAN		all cancers(201;0.0337)	6	1172	-		Lung NSC(174;0.21)	158			2		A8KA21|O15507|O43912	Silent	SNP	ENST00000355422.6	37	c.474G>A	CCDS44481.1																																																																																				0.557	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050512.2	NM_145793		4	14	0	0	0	0	4	14				
IRF7	3665	broad.mit.edu	37	11	613308	613308	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:613308C>T	ENST00000397574.2	-	9	1504	c.1135G>A	c.(1135-1137)Gag>Aag	p.E379K	IRF7_ENST00000525445.1_Missense_Mutation_p.E273K|IRF7_ENST00000397570.1_Missense_Mutation_p.E350K|IRF7_ENST00000397562.3_Missense_Mutation_p.E86K|IRF7_ENST00000330243.5_Missense_Mutation_p.E392K|IRF7_ENST00000397566.1_Missense_Mutation_p.E392K|IRF7_ENST00000348655.6_Missense_Mutation_p.E350K	NM_001572.3	NP_001563.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	379					cellular response to DNA damage stimulus (GO:0006974)|cytokine-mediated signaling pathway (GO:0019221)|establishment of viral latency (GO:0019043)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-alpha production (GO:0032607)|interferon-beta production (GO:0032608)|interferon-gamma-mediated signaling pathway (GO:0060333)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of adaptive immune response (GO:0002819)|regulation of immune response (GO:0050776)|regulation of monocyte differentiation (GO:0045655)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|regulation of MyD88-independent toll-like receptor signaling pathway (GO:0034127)|regulation of type I interferon production (GO:0032479)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCGCCCACCTCCCAGTACACC	0.677																																						uc001lqh.2		NA																	0					0						c.(1135-1137)GAG>AAG		interferon regulatory factor 7 isoform a							16.0	23.0	20.0					11																	613308		2195	4293	6488	SO:0001583	missense	3665				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr11:613308C>T	U53830	CCDS7703.1, CCDS7704.1, CCDS7705.1	11p15.5	2005-10-10			ENSG00000185507	ENSG00000185507			6122	protein-coding gene	gene with protein product		605047					Standard	XM_005252906		Approved		uc001lqh.3	Q92985	OTTHUMG00000132019	ENST00000397574.2:c.1135G>A	11.37:g.613308C>T	ENSP00000380704:p.Glu379Lys					IRF7_uc009ycb.2_Missense_Mutation_p.E273K|IRF7_uc010qwf.1_Missense_Mutation_p.E378K|IRF7_uc001lqf.2_Missense_Mutation_p.E86K|IRF7_uc010qwg.1_Missense_Mutation_p.E86K|IRF7_uc001lqg.2_Missense_Mutation_p.E392K|IRF7_uc001lqi.2_Missense_Mutation_p.E350K|IRF7_uc010qwh.1_Missense_Mutation_p.E86K	p.E379K	NM_001572	NP_001563	Q92985	IRF7_HUMAN		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	9	1505	-		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	379					B9EGL3|O00331|O00332|O00333|O75924|Q9UE79	Missense_Mutation	SNP	ENST00000397574.2	37	c.1135G>A	CCDS7703.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.254944	0.80135	.	.	ENSG00000185507	ENST00000525445;ENST00000348655;ENST00000397570;ENST00000397566;ENST00000397574;ENST00000397562;ENST00000330243	D;D;D;D;D;D;D	0.94723	-3.5;-3.5;-3.5;-3.5;-3.5;-3.5;-3.5	4.27	4.27	0.50696	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.267742	0.34507	N	0.003911	D	0.96534	0.8869	M	0.69823	2.125	0.43846	D	0.996436	D;P;D;D	0.76494	0.999;0.951;0.999;0.999	D;P;D;D	0.83275	0.977;0.754;0.996;0.962	D	0.96273	0.9200	10	0.51188	T	0.08	-33.5335	14.3822	0.66919	0.0:1.0:0.0:0.0	.	273;350;379;392	E9PSE3;Q92985-2;Q92985;Q92985-4	.;.;IRF7_HUMAN;.	K	273;350;350;392;379;86;392	ENSP00000434009:E273K;ENSP00000331803:E350K;ENSP00000380700:E350K;ENSP00000380697:E392K;ENSP00000380704:E379K;ENSP00000380693:E86K;ENSP00000329411:E392K	ENSP00000329411:E392K	E	-	1	0	IRF7	603308	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.770000	0.47662	2.376000	0.81061	0.561000	0.74099	GAG		0.677	IRF7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255026.1	NM_001572		13	32	0	0	0	0	13	32				
MRGPRE	116534	broad.mit.edu	37	11	3249862	3249862	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:3249862G>A	ENST00000389832.5	-	2	474	c.168C>T	c.(166-168)aaC>aaT	p.N56N	AC109309.4_ENST00000418995.2_RNA|MRGPRE_ENST00000436689.2_Silent_p.N55N			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	56						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGCGAAGGGGTTTCTGTAGA	0.632																																						uc001lxq.3		NA																	0				large_intestine(1)|ovary(1)	2						c.(163-165)AAC>AAT		MAS-related GPR, member E							84.0	102.0	96.0					11																	3249862		2120	4225	6345	SO:0001819	synonymous_variant	116534					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:3249862G>A	AY255572	CCDS41603.1, CCDS41603.2	11p15.5	2012-08-21	2004-03-25		ENSG00000184350	ENSG00000184350		"""GPCR / Class A : Orphans"""	30694	protein-coding gene	gene with protein product		607232	"""G protein-coupled receptor 167"""	GPR167		11551509	Standard	NM_001039165		Approved	mrgE	uc001lxq.5	Q86SM8	OTTHUMG00000011708	ENST00000389832.5:c.168C>T	11.37:g.3249862G>A							p.N55N	NM_001039165	NP_001034254	Q86SM8	MRGRE_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	475	-		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	55			Cytoplasmic (Potential).		Q2M1V7	Silent	SNP	ENST00000389832.5	37	c.165C>T																																																																																					0.632	MRGPRE-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000032346.5	XM_171536		41	65	0	0	0	0	41	65				
OR52K2	119774	broad.mit.edu	37	11	4470788	4470788	+	Silent	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:4470788G>T	ENST00000325719.4	+	1	264	c.219G>T	c.(217-219)ctG>ctT	p.L73L	AC010930.1_ENST00000408103.1_RNA	NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	73						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)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCATCGACCTGGTCCTTTCCT	0.527																																						uc001lyz.1		NA																	0				skin(2)	2						c.(217-219)CTG>CTT		olfactory receptor, family 52, subfamily K,							151.0	126.0	135.0					11																	4470788		2201	4298	6499	SO:0001819	synonymous_variant	119774				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4470788G>T	AB065791	CCDS31351.1	11p15.4	2012-08-09			ENSG00000181963	ENSG00000181963		"""GPCR / Class A : Olfactory receptors"""	15223	protein-coding gene	gene with protein product							Standard	NM_001005172		Approved		uc001lyz.2	Q8NGK3	OTTHUMG00000165703	ENST00000325719.4:c.219G>T	11.37:g.4470788G>T							p.L73L	NM_001005172	NP_001005172	Q8NGK3	O52K2_HUMAN		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	219	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	73			Helical; Name=2; (Potential).		A8MUY8|B2RP35|Q6IFK4	Silent	SNP	ENST00000325719.4	37	c.219G>T	CCDS31351.1																																																																																				0.527	OR52K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385844.1	NM_001005172		74	107	1	0	4.12e-46	6.41e-46	74	107				
OR52A5	390054	broad.mit.edu	37	11	5153170	5153170	+	Missense_Mutation	SNP	C	C	T	rs267602939		TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:5153170C>T	ENST00000307388.1	-	1	702	c.703G>A	c.(703-705)Gag>Aag	p.E235K		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	235					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		AATCGTGCCTCCTTCTGGGGC	0.418																																						uc010qyx.1		NA																	0				skin(2)|lung(1)|central_nervous_system(1)	4						c.(703-705)GAG>AAG		olfactory receptor, family 52, subfamily A,							100.0	92.0	95.0					11																	5153170		2201	4298	6499	SO:0001583	missense	390054				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5153170C>T	BK004433	CCDS31373.1	11p15.4	2012-08-09			ENSG00000171944	ENSG00000171944		"""GPCR / Class A : Olfactory receptors"""	19580	protein-coding gene	gene with protein product							Standard	NM_001005160		Approved		uc010qyx.2	Q9H2C5	OTTHUMG00000066616	ENST00000307388.1:c.703G>A	11.37:g.5153170C>T	ENSP00000303469:p.Glu235Lys						p.E235K	NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)	1	703	-		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)	235			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000307388.1	37	c.703G>A	CCDS31373.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.737232	0.49045	.	.	ENSG00000171944	ENST00000307388	T	0.00174	8.62	5.09	5.09	0.68999	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000168	T	0.00412	0.0013	M	0.72624	2.21	0.34749	D	0.731619	B	0.31581	0.329	P	0.46975	0.533	T	0.67546	-0.5643	10	0.62326	D	0.03	.	16.0373	0.80640	0.0:1.0:0.0:0.0	.	235	Q9H2C5	O52A5_HUMAN	K	235	ENSP00000303469:E235K	ENSP00000303469:E235K	E	-	1	0	OR52A5	5109746	0.001000	0.12720	1.000000	0.80357	0.060000	0.15804	0.273000	0.18662	2.638000	0.89438	0.563000	0.77884	GAG		0.418	OR52A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142823.1	NM_001005160		48	47	0	0	0	0	48	47				
OR51B6	390058	broad.mit.edu	37	11	5373014	5373014	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:5373014G>T	ENST00000380219.1	+	1	277	c.277G>T	c.(277-279)Gga>Tga	p.G93*	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	93					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATTGGCCATGGAGCCTGCTT	0.483																																						uc010qzb.1		NA																	0				ovary(1)|skin(1)	2						c.(277-279)GGA>TGA		olfactory receptor, family 51, subfamily B,							131.0	123.0	126.0					11																	5373014		2201	4297	6498	SO:0001587	stop_gained	390058				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5373014G>T		CCDS31379.1	11p15.4	2012-08-09			ENSG00000176239	ENSG00000176239		"""GPCR / Class A : Olfactory receptors"""	19600	protein-coding gene	gene with protein product							Standard	NM_001004750		Approved		uc010qzb.2	Q9H340	OTTHUMG00000066669	ENST00000380219.1:c.277G>T	11.37:g.5373014G>T	ENSP00000369568:p.Gly93*					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.G93*	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	277	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	93			Extracellular (Potential).			Nonsense_Mutation	SNP	ENST00000380219.1	37	c.277G>T	CCDS31379.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.459749	0.26248	.	.	ENSG00000176239	ENST00000537299;ENST00000380219	.	.	.	5.01	0.953	0.19590	.	1.317590	0.05142	N	0.494435	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	5.7259	0.18013	0.2298:0.2651:0.5052:0.0	.	.	.	.	X	92;93	.	ENSP00000369568:G93X	G	+	1	0	OR51B6	5329590	0.000000	0.05858	0.041000	0.18516	0.137000	0.21094	0.376000	0.20535	0.025000	0.15241	0.455000	0.32223	GGA		0.483	OR51B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142960.1	NM_001004750		52	62	1	0	7.07e-37	1.09e-36	52	62				
OR52D1	390066	broad.mit.edu	37	11	5510563	5510563	+	Silent	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:5510563C>A	ENST00000322641.5	+	1	649	c.627C>A	c.(625-627)gcC>gcA	p.A209A	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	209					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCTGCTGGCCATGGGACTGG	0.483																																						uc010qzg.1		NA																	0				central_nervous_system(1)	1						c.(625-627)GCC>GCA		olfactory receptor, family 52, subfamily D,							289.0	249.0	262.0					11																	5510563		2201	4297	6498	SO:0001819	synonymous_variant	390066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5510563C>A	BK004276	CCDS31384.1	11p15.4	2012-08-09			ENSG00000181609	ENSG00000181609		"""GPCR / Class A : Olfactory receptors"""	15212	protein-coding gene	gene with protein product							Standard	NM_001005163		Approved		uc010qzg.2	Q9H346	OTTHUMG00000066895	ENST00000322641.5:c.627C>A	11.37:g.5510563C>A						HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.A209A	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	627	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	209			Helical; Name=5; (Potential).		B9EGY9|Q6IFI6	Silent	SNP	ENST00000322641.5	37	c.627C>A	CCDS31384.1																																																																																				0.483	OR52D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143372.1	NM_001005163		93	167	1	0	1.1e-24	1.65e-24	93	167				
OR10A4	283297	broad.mit.edu	37	11	6898646	6898647	+	Missense_Mutation	DNP	CA	CA	AT			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:6898646_6898647CA>AT	ENST00000379829.2	+	1	791_792	c.768_769CA>AT	c.(766-771)gcCAtc>gcATtc	p.I257F		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	257					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATAGCACTGCCATCCTCACGTA	0.525																																						uc010rat.1		NA																	0				ovary(1)	1						c.(766-771)GCCATC>GCATTC		olfactory receptor, family 10, subfamily A,																																				SO:0001583	missense	283297				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6898646_6898647CA>AT	AF209506	CCDS7774.1	11p15.4	2012-08-09	2002-11-13	2004-03-10	ENSG00000170782	ENSG00000170782		"""GPCR / Class A : Olfactory receptors"""	15130	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily A, member 4 pseudogene"""	OR10A4P			Standard	NM_207186		Approved		uc010rat.2	Q9H209	OTTHUMG00000165740	Exception_encountered	11.37:g.6898646_6898647delinsAT	ENSP00000369157:p.Ile257Phe						p.I257F	NM_207186	NP_997069	Q9H209	O10A4_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	768_769	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	257			Helical; Name=6; (Potential).		B2RNP5|B9EH36|Q96R20	Missense_Mutation	DNP	ENST00000379829.2	37	c.768_769CA>AT	CCDS7774.1																																																																																				0.525	OR10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385985.1	NM_207186		53	71	0	0	0	0	53	71				
RIC3	79608	broad.mit.edu	37	11	8132424	8132424	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:8132424C>T	ENST00000309737.6	-	6	930	c.931G>A	c.(931-933)Gag>Aag	p.E311K	RIC3_ENST00000425599.2_Missense_Mutation_p.E230K|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000335425.7_Missense_Mutation_p.E129K|RIC3_ENST00000539720.1_Missense_Mutation_p.E262K|RIC3_ENST00000343202.4_Missense_Mutation_p.E310K|RIC3_ENST00000396677.2_Missense_Mutation_p.E149K			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	311					cellular protein complex assembly (GO:0043623)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein folding (GO:0006457)|synaptic transmission, cholinergic (GO:0007271)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		GCAGGATCCTCGTCTTCATGA	0.483																																						uc001mgd.2		NA																	0				large_intestine(1)|ovary(1)|pancreas(1)	3						c.(931-933)GAG>AAG		resistance to inhibitors of cholinesterase 3							137.0	128.0	131.0					11																	8132424		2201	4296	6497	SO:0001583	missense	79608					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:8132424C>T		CCDS7788.1, CCDS44533.1, CCDS55741.1, CCDS55742.1	11p15.4	2013-08-05	2013-08-05		ENSG00000166405	ENSG00000166405			30338	protein-coding gene	gene with protein product		610509	"""resistance to inhibitors of cholinesterase 3 homolog (C. elegans)"""			12821669	Standard	NM_024557		Approved	FLJ11608, PRO1385, AYST720	uc001mgd.2	Q7Z5B4	OTTHUMG00000165694	ENST00000309737.6:c.931G>A	11.37:g.8132424C>T	ENSP00000308820:p.Glu311Lys					RIC3_uc001mgb.2_Missense_Mutation_p.E149K|RIC3_uc001mgc.2_Missense_Mutation_p.E310K|RIC3_uc001mge.2_Missense_Mutation_p.E129K|RIC3_uc010rbl.1_Missense_Mutation_p.E261K|RIC3_uc010rbm.1_Missense_Mutation_p.E339K|RIC3_uc009yfm.2_Missense_Mutation_p.E230K|RIC3_uc009yfn.2_Missense_Mutation_p.E114K	p.E311K	NM_024557	NP_078833	Q7Z5B4	RIC3_HUMAN		Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)	6	985	-			311			Cytoplasmic (Potential).		B0B1U0|B2RD25|D3DQU5|Q6UX78|Q7Z5B3|Q86T94|Q8TBJ9|Q9HAH8	Missense_Mutation	SNP	ENST00000309737.6	37	c.931G>A	CCDS55742.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.335403	0.60853	.	.	ENSG00000166405	ENST00000396677;ENST00000335425;ENST00000343202;ENST00000309737;ENST00000539720;ENST00000425599	T;T;T;T	0.35236	1.37;1.37;1.38;1.32	5.96	5.96	0.96718	.	0.141987	0.48286	D	0.000183	T	0.45054	0.1323	M	0.62723	1.935	0.49582	D	0.999802	P;P;P;P;D	0.56035	0.89;0.935;0.921;0.921;0.974	B;B;B;B;P	0.44696	0.288;0.361;0.162;0.162;0.458	T	0.44877	-0.9299	10	0.62326	D	0.03	.	19.9817	0.97329	0.0:1.0:0.0:0.0	.	230;129;311;310;149	B0B1U0;Q7Z5B4-3;Q7Z5B4;Q7Z5B4-5;D3DQU6	.;.;RIC3_HUMAN;.;.	K	149;129;310;311;262;230	ENSP00000344904:E310K;ENSP00000308820:E311K;ENSP00000443871:E262K;ENSP00000395320:E230K	ENSP00000308820:E311K	E	-	1	0	RIC3	8089000	0.998000	0.40836	0.994000	0.49952	0.975000	0.68041	5.093000	0.64517	2.826000	0.97356	0.650000	0.86243	GAG		0.483	RIC3-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385900.1	NM_024557		80	94	0	0	0	0	80	94				
C11orf16	56673	broad.mit.edu	37	11	8947492	8947492	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:8947492G>A	ENST00000326053.5	-	5	828	c.722C>T	c.(721-723)cCt>cTt	p.P241L	C11orf16_ENST00000525780.1_Missense_Mutation_p.P241L|C11orf16_ENST00000528998.1_5'Flank	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	241										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		AGAGCAGCAAGGGGCCCAGTG	0.612																																						uc001mhb.3		NA																	0				upper_aerodigestive_tract(1)|pancreas(1)	2						c.(721-723)CCT>CTT		hypothetical protein LOC56673							61.0	66.0	64.0					11																	8947492		2201	4296	6497	SO:0001583	missense	56673							g.chr11:8947492G>A	AJ400877	CCDS7794.1	11p15.3	2008-06-25			ENSG00000176029	ENSG00000176029			1169	protein-coding gene	gene with protein product						11528127	Standard	NM_020643		Approved		uc001mhb.4	Q9NQ32	OTTHUMG00000165654	ENST00000326053.5:c.722C>T	11.37:g.8947492G>A	ENSP00000318999:p.Pro241Leu					C11orf16_uc001mhc.3_Missense_Mutation_p.P241L	p.P241L	NM_020643	NP_065694	Q9NQ32	CK016_HUMAN		Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)	5	846	-			241					Q53FB2|Q8N6Y9	Missense_Mutation	SNP	ENST00000326053.5	37	c.722C>T	CCDS7794.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.222481	0.58668	.	.	ENSG00000176029	ENST00000525780;ENST00000326053	T;T	0.47869	0.9;0.83	6.07	6.07	0.98685	.	0.175331	0.41294	D	0.000904	T	0.46756	0.1409	M	0.61703	1.905	0.25675	N	0.98585	P;P	0.41524	0.753;0.753	B;B	0.41174	0.241;0.349	T	0.56498	-0.7969	10	0.87932	D	0	-9.2739	9.4593	0.38774	0.1168:0.0:0.8832:0.0	.	241;241	Q9NQ32-2;Q9NQ32	.;CK016_HUMAN	L	241	ENSP00000436818:P241L;ENSP00000318999:P241L	ENSP00000318999:P241L	P	-	2	0	C11orf16	8904068	0.950000	0.32346	0.997000	0.53966	0.403000	0.30841	4.243000	0.58721	2.884000	0.98904	0.655000	0.94253	CCT		0.612	C11orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385626.1	NM_020643		14	91	0	0	0	0	14	91				
PRMT3	10196	broad.mit.edu	37	11	20483570	20483570	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:20483570G>A	ENST00000331079.6	+	12	1334	c.1117G>A	c.(1117-1119)Gtg>Atg	p.V373M	PRMT3_ENST00000437750.2_Missense_Mutation_p.V311M	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	373	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|negative regulation of protein ubiquitination (GO:0031397)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ribosome (GO:0005840)	histone-arginine N-methyltransferase activity (GO:0008469)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|modified amino acid binding (GO:0072341)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						AGTGAGTGATGTGAATAAACA	0.388																																						uc001mqb.2		NA																	0					0						c.(1117-1119)GTG>ATG		protein arginine methyltransferase 3 isoform 1							186.0	177.0	180.0					11																	20483570		2203	4300	6503	SO:0001583	missense	10196						zinc ion binding	g.chr11:20483570G>A	AF059531	CCDS7853.1, CCDS44554.1	11p15.1	2008-02-05	2006-02-16	2006-02-16	ENSG00000185238	ENSG00000185238		"""Protein arginine methyltransferases"""	30163	protein-coding gene	gene with protein product		603190	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"""	HRMT1L3		9642256	Standard	NM_005788		Approved		uc001mqb.3	O60678	OTTHUMG00000166022	ENST00000331079.6:c.1117G>A	11.37:g.20483570G>A	ENSP00000331879:p.Val373Met					PRMT3_uc001mqc.2_Missense_Mutation_p.V296M|PRMT3_uc010rdn.1_Missense_Mutation_p.V311M	p.V373M	NM_005788	NP_005779	O60678	ANM3_HUMAN			12	1334	+			373					B4DUC7	Missense_Mutation	SNP	ENST00000331079.6	37	c.1117G>A	CCDS7853.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.493779	0.26774	.	.	ENSG00000185238	ENST00000331079;ENST00000541255;ENST00000437750	T;T	0.79940	-1.32;-1.32	5.78	-4.04	0.04010	.	1.324110	0.04490	N	0.379363	T	0.54255	0.1847	N	0.02539	-0.55	0.09310	N	0.999996	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.44375	-0.9332	10	0.46703	T	0.11	-0.4595	4.416	0.11455	0.4881:0.1242:0.3023:0.0854	.	311;373	O60678-2;O60678	.;ANM3_HUMAN	M	373;373;311	ENSP00000331879:V373M;ENSP00000397766:V311M	ENSP00000331879:V373M	V	+	1	0	PRMT3	20440146	0.000000	0.05858	0.015000	0.15790	0.975000	0.68041	-0.475000	0.06599	-0.418000	0.07450	-0.157000	0.13467	GTG		0.388	PRMT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387489.1	NM_005788		43	91	0	0	0	0	43	91				
ANO5	203859	broad.mit.edu	37	11	22242683	22242683	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:22242683G>T	ENST00000324559.8	+	5	538	c.221G>T	c.(220-222)cGa>cTa	p.R74L		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	74					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATCTTCTTCCGAGATGGGATT	0.353																																						uc001mqi.2		NA																	0				central_nervous_system(3)|ovary(1)	4						c.(220-222)CGA>CTA		anoctamin 5 isoform a							95.0	93.0	94.0					11																	22242683		2203	4300	6503	SO:0001583	missense	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22242683G>T	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.221G>T	11.37:g.22242683G>T	ENSP00000315371:p.Arg74Leu					ANO5_uc001mqj.2_Missense_Mutation_p.R73L	p.R74L	NM_213599	NP_998764	Q75V66	ANO5_HUMAN			5	538	+			74			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000324559.8	37	c.221G>T	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.513307	0.85389	.	.	ENSG00000171714	ENST00000324559	T	0.66099	-0.19	4.99	4.99	0.66335	.	0.102452	0.64402	D	0.000011	T	0.70675	0.3251	M	0.83118	2.625	0.44570	D	0.997534	P	0.46621	0.881	B	0.43990	0.438	T	0.77691	-0.2493	10	0.62326	D	0.03	.	18.6225	0.91326	0.0:0.0:1.0:0.0	.	74	Q75V66	ANO5_HUMAN	L	74	ENSP00000315371:R74L	ENSP00000315371:R74L	R	+	2	0	ANO5	22199259	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	7.287000	0.78681	2.479000	0.83701	0.655000	0.94253	CGA		0.353	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		23	32	1	0	1.18e-12	1.57e-12	23	32				
IMMP1L	196294	broad.mit.edu	37	11	31484808	31484808	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:31484808G>A	ENST00000278200.1	-	3	211	c.16C>T	c.(16-18)Ctg>Ttg	p.L6L	IMMP1L_ENST00000532287.1_Silent_p.L6L|IMMP1L_ENST00000526776.1_Silent_p.L6L|IMMP1L_ENST00000533642.1_Intron|IMMP1L_ENST00000534812.1_Intron|IMMP1L_ENST00000528161.1_Intron	NM_144981.1	NP_659418.1	Q96LU5	IMP1L_HUMAN	IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae)	6					protein processing involved in protein targeting to mitochondrion (GO:0006627)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	serine-type peptidase activity (GO:0008236)			breast(1)|cervix(1)|large_intestine(1)|lung(4)	7	Lung SC(675;0.225)					GTTTTCCCCAGAACACCACGA	0.363																																						uc001msy.1		NA																	0					0						c.(16-18)CTG>TTG		IMP1 inner mitochondrial membrane							118.0	96.0	104.0					11																	31484808		2202	4299	6501	SO:0001819	synonymous_variant	196294				proteolysis	mitochondrial inner membrane	serine-type peptidase activity	g.chr11:31484808G>A		CCDS7874.1	11p13	2014-07-30			ENSG00000148950	ENSG00000148950			26317	protein-coding gene	gene with protein product		612323					Standard	NM_144981		Approved	FLJ25059	uc001msy.1	Q96LU5	OTTHUMG00000166226	ENST00000278200.1:c.16C>T	11.37:g.31484808G>A						IMMP1L_uc001msz.1_Silent_p.L6L|IMMP1L_uc009yjo.2_Silent_p.L6L|IMMP1L_uc009yjp.2_Intron	p.L6L	NM_144981	NP_659418	Q96LU5	IMP1L_HUMAN			3	212	-	Lung SC(675;0.225)		6					D3DQZ7|Q96SH9	Silent	SNP	ENST00000278200.1	37	c.16C>T	CCDS7874.1																																																																																				0.363	IMMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388496.1	NM_144981		6	79	0	0	0	0	6	79				
ALX4	60529	broad.mit.edu	37	11	44286554	44286554	+	Silent	SNP	C	C	T	rs201245023		TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:44286554C>T	ENST00000329255.3	-	4	1189	c.1086G>A	c.(1084-1086)acG>acA	p.T362T		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	362					anterior/posterior pattern specification (GO:0009952)|digestive tract development (GO:0048565)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|hair follicle development (GO:0001942)|muscle organ development (GO:0007517)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of apoptotic process (GO:0042981)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						TGCCCATGTGCGTCTGGCCCA	0.677																																						uc001myb.2		NA																	0					0						c.(1084-1086)ACG>ACA		aristaless-like homeobox 4		C		0,4406		0,0,2203	50.0	46.0	48.0		1086	-4.8	1.0	11		48	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	ALX4	NM_021926.3		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		362/412	44286554	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	60529				hair follicle development			g.chr11:44286554C>T	AF294629	CCDS31468.1	11p11.2	2011-06-20	2008-11-04		ENSG00000052850	ENSG00000052850		"""Homeoboxes / PRD class"""	450	protein-coding gene	gene with protein product		605420	"""parietal foramina 2"", ""aristaless-like homeobox 4"""	PFM2		11017806, 8644736	Standard	NM_021926		Approved	FPP, PFM, KIAA1788	uc001myb.3	Q9H161	OTTHUMG00000166557	ENST00000329255.3:c.1086G>A	11.37:g.44286554C>T							p.T362T	NM_021926	NP_068745	Q9H161	ALX4_HUMAN			4	1190	-			362					Q96JN7|Q9H198|Q9HAY9	Silent	SNP	ENST00000329255.3	37	c.1086G>A	CCDS31468.1																																																																																				0.677	ALX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390399.1			12	41	0	0	0	0	12	41				
ZNF408	79797	broad.mit.edu	37	11	46726538	46726538	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:46726538G>C	ENST00000311764.2	+	5	1518	c.1288G>C	c.(1288-1290)Gta>Cta	p.V430L		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	430					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCACCAGGTGGTACATTCAGG	0.647																																					Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525)	uc001nde.1		NA																	0					0						c.(1288-1290)GTA>CTA		zinc finger protein 408							67.0	65.0	66.0					11																	46726538		2201	4299	6500	SO:0001583	missense	79797				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding	g.chr11:46726538G>C	AF346626	CCDS7923.1	11p11.2	2008-02-05			ENSG00000175213	ENSG00000175213		"""Zinc fingers, C2H2-type"""	20041	protein-coding gene	gene with protein product						15231747	Standard	NM_024741		Approved	FLJ12827	uc010rgw.2	Q9H9D4	OTTHUMG00000166568	ENST00000311764.2:c.1288G>C	11.37:g.46726538G>C	ENSP00000309606:p.Val430Leu					ZNF408_uc010rgw.1_Missense_Mutation_p.V422L	p.V430L	NM_024741	NP_079017	Q9H9D4	ZN408_HUMAN			5	1518	+			430			C2H2-type 3.			Missense_Mutation	SNP	ENST00000311764.2	37	c.1288G>C	CCDS7923.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.522283	0.44866	.	.	ENSG00000175213	ENST00000311764	T	0.19250	2.16	5.57	3.69	0.42338	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40640	N	0.001059	T	0.15782	0.0380	L	0.33189	0.99	0.32366	N	0.556456	B;B	0.31640	0.333;0.333	B;B	0.34991	0.193;0.193	T	0.12502	-1.0545	10	0.48119	T	0.1	-14.7661	6.8873	0.24209	0.1636:0.258:0.5784:0.0	.	422;430	B4DXY4;Q9H9D4	.;ZN408_HUMAN	L	430	ENSP00000309606:V430L	ENSP00000309606:V430L	V	+	1	0	ZNF408	46683114	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	2.004000	0.40854	1.503000	0.48686	-0.219000	0.12488	GTA		0.647	ZNF408-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390485.2	NM_024741		26	66	0	0	0	0	26	66				
C1QTNF4	114900	broad.mit.edu	37	11	47611622	47611622	+	Silent	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:47611622C>T	ENST00000302514.3	-	2	1257	c.741G>A	c.(739-741)ctG>ctA	p.L247L		NM_031909.2	NP_114115.2	Q9BXJ3	C1QT4_HUMAN	C1q and tumor necrosis factor related protein 4	247	C1q 2. {ECO:0000255|PROSITE- ProRule:PRU00368}.					extracellular space (GO:0005615)				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						GGTTCTTCATCAGCTTAACCG	0.677																																						uc001ngc.2		NA																	0					0						c.(739-741)CTG>CTA		C1q and tumor necrosis factor related protein 4							25.0	30.0	28.0					11																	47611622		2191	4297	6488	SO:0001819	synonymous_variant	114900					extracellular region		g.chr11:47611622C>T	AF329838	CCDS7942.1	11q11	2008-07-18				ENSG00000172247			14346	protein-coding gene	gene with protein product	"""complement-c1q tumor necrosis factor-related protein 4"""	614911				16094384	Standard	NM_031909		Approved	CTRP4, ZACRP4	uc001ngc.2	Q9BXJ3		ENST00000302514.3:c.741G>A	11.37:g.47611622C>T							p.L247L	NM_031909	NP_114115	Q9BXJ3	C1QT4_HUMAN			2	1008	-			247			C1q 2.		Q8IV25	Silent	SNP	ENST00000302514.3	37	c.741G>A	CCDS7942.1																																																																																				0.677	C1QTNF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391772.1	NM_031909		11	20	0	0	0	0	11	20				
OR4S1	256148	broad.mit.edu	37	11	48327915	48327915	+	Silent	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:48327915C>A	ENST00000319988.1	+	1	141	c.141C>A	c.(139-141)atC>atA	p.I47I		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	47						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TCATCACCATCAATGCTAGAA	0.448																																						uc010rhu.1		NA																	0				ovary(1)	1						c.(139-141)ATC>ATA		olfactory receptor, family 4, subfamily S,							244.0	198.0	214.0					11																	48327915		2201	4288	6489	SO:0001819	synonymous_variant	256148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48327915C>A	AB065908	CCDS31488.1	11p11.2	2012-08-09			ENSG00000176555	ENSG00000176555		"""GPCR / Class A : Olfactory receptors"""	14705	protein-coding gene	gene with protein product							Standard	NM_001004725		Approved		uc010rhu.2	Q8NGB4	OTTHUMG00000166578	ENST00000319988.1:c.141C>A	11.37:g.48327915C>A							p.I47I	NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN			1	141	+			47			Helical; Name=1; (Potential).		Q6IFB4	Silent	SNP	ENST00000319988.1	37	c.141C>A	CCDS31488.1																																																																																				0.448	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390556.1	NM_001004725		69	88	1	0	6.13e-21	8.9e-21	69	88				
OR4P4	81300	broad.mit.edu	37	11	55405873	55405873	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:55405873G>A	ENST00000314612.2	+	1	40	c.40G>A	c.(40-42)Ggg>Agg	p.G14R		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G14W(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TATTCTCTTGGGGTTTTCCCA	0.313																																						uc010rij.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(40-42)GGG>AGG		olfactory receptor, family 4, subfamily P,							115.0	111.0	112.0					11																	55405873		2182	4026	6208	SO:0001583	missense	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55405873G>A	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"""GPCR / Class A : Olfactory receptors"""	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.40G>A	11.37:g.55405873G>A	ENSP00000324831:p.Gly14Arg						p.G14R	NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN			1	40	+			14			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000314612.2	37	c.40G>A	CCDS31504.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.585650	0.46110	.	.	ENSG00000181927	ENST00000314612	T	0.00659	5.94	5.02	5.02	0.67125	.	0.000000	0.40222	N	0.001157	T	0.06096	0.0158	M	0.89030	3	0.30143	N	0.803762	D	0.76494	0.999	D	0.76575	0.988	T	0.00435	-1.1741	10	0.87932	D	0	-6.8351	17.1068	0.86665	0.0:0.0:1.0:0.0	.	14	Q8NGL7	OR4P4_HUMAN	R	14	ENSP00000324831:G14R	ENSP00000324831:G14R	G	+	1	0	OR4P4	55162449	1.000000	0.71417	0.711000	0.30485	0.062000	0.15995	4.582000	0.60957	2.356000	0.79943	0.626000	0.83405	GGG		0.313	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		75	112	0	0	0	0	75	112				
TRIM51	84767	broad.mit.edu	37	11	55658943	55658943	+	Silent	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:55658943G>T	ENST00000449290.2	+	7	1286	c.1194G>T	c.(1192-1194)gtG>gtT	p.V398V	TRIM51_ENST00000244891.3_Silent_p.V255V	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	398	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)										CCCCACTTGTGGTGCAATATG	0.448																																						uc010rip.1		NA																	0					0						c.(1192-1194)GTG>GTT		SPRY domain containing 5							39.0	38.0	38.0					11																	55658943		2143	4128	6271	SO:0001819	synonymous_variant	84767					intracellular	zinc ion binding	g.chr11:55658943G>T	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.1194G>T	11.37:g.55658943G>T						SPRYD5_uc010riq.1_Silent_p.V255V	p.V398V	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN			7	1286	+		all_epithelial(135;0.226)	398			B30.2/SPRY.		A6NMG2	Silent	SNP	ENST00000449290.2	37	c.1194G>T																																																																																					0.448	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		24	41	1	0	7.26e-15	9.92e-15	24	41				
OR5W2	390148	broad.mit.edu	37	11	55681386	55681386	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:55681386C>T	ENST00000344514.1	-	1	672	c.673G>A	c.(673-675)Gtc>Atc	p.V225I		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	225						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ATCTCCAAGACTGATAGGATG	0.403																																					Melanoma(48;171 1190 15239 43886 49348)	uc010rir.1		NA																	0				ovary(1)|skin(1)	2						c.(673-675)GTC>ATC		olfactory receptor, family 5, subfamily W,							64.0	71.0	69.0					11																	55681386		2201	4296	6497	SO:0001583	missense	390148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55681386C>T	BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"""GPCR / Class A : Olfactory receptors"""	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.673G>A	11.37:g.55681386C>T	ENSP00000342448:p.Val225Ile						p.V225I	NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN			1	673	-			225			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000344514.1	37	c.673G>A	CCDS31513.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.572418	0.00887	.	.	ENSG00000187612	ENST00000344514	T	0.00224	8.51	5.0	2.11	0.27256	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36591	N	0.002516	T	0.00073	0.0002	N	0.03268	-0.37	0.09310	N	1	B	0.21147	0.052	B	0.32762	0.152	T	0.32428	-0.9907	10	0.02654	T	1	.	6.3211	0.21219	0.0:0.6166:0.0:0.3834	.	225	Q8NH69	OR5W2_HUMAN	I	225	ENSP00000342448:V225I	ENSP00000342448:V225I	V	-	1	0	OR5W2	55437962	0.000000	0.05858	0.003000	0.11579	0.268000	0.26511	-0.407000	0.07178	0.517000	0.28361	0.542000	0.68232	GTC		0.403	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960		20	45	0	0	0	0	20	45				
OR5J2	282775	broad.mit.edu	37	11	55944656	55944656	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:55944656C>A	ENST00000312298.1	+	1	563	c.563C>A	c.(562-564)tCa>tAa	p.S188*		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	188						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					CTAAAGCTGTCATGTTCTGAC	0.438																																						uc010rjb.1		NA																	0				ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4						c.(562-564)TCA>TAA		olfactory receptor, family 5, subfamily J,							171.0	137.0	149.0					11																	55944656		2201	4295	6496	SO:0001587	stop_gained	282775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55944656C>A	AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"""GPCR / Class A : Olfactory receptors"""	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.563C>A	11.37:g.55944656C>A	ENSP00000310788:p.Ser188*						p.S188*	NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN			1	563	+	Esophageal squamous(21;0.00693)		188			Extracellular (Potential).		Q6IEU5	Nonsense_Mutation	SNP	ENST00000312298.1	37	c.563C>A	CCDS31522.1	.	.	.	.	.	.	.	.	.	.	C	8.864	0.947611	0.18356	.	.	ENSG00000174957	ENST00000312298	.	.	.	4.73	2.81	0.32909	.	0.166040	0.28104	N	0.016583	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.5005	0.50435	0.0:0.8399:0.0:0.1601	.	.	.	.	X	188	.	ENSP00000310788:S188X	S	+	2	0	OR5J2	55701232	0.000000	0.05858	0.064000	0.19789	0.115000	0.19883	0.801000	0.27055	1.139000	0.42245	0.591000	0.81541	TCA		0.438	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	NM_001005492		47	77	1	0	2.13e-23	3.17e-23	47	77				
OR8J1	219477	broad.mit.edu	37	11	56128446	56128446	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:56128446G>A	ENST00000303039.3	+	1	756	c.724G>A	c.(724-726)Gct>Act	p.A242T		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TTCTACCTGTGCTTCACATAT	0.348																																						uc010rjh.1		NA																	0				ovary(2)	2						c.(724-726)GCT>ACT		olfactory receptor, family 8, subfamily J,							122.0	112.0	115.0					11																	56128446		2201	4296	6497	SO:0001583	missense	219477				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56128446G>A	AB065748	CCDS31529.1	11q11	2012-08-09			ENSG00000172487	ENSG00000172487		"""GPCR / Class A : Olfactory receptors"""	14855	protein-coding gene	gene with protein product							Standard	NM_001005205		Approved		uc010rjh.2	Q8NGP2	OTTHUMG00000166859	ENST00000303039.3:c.724G>A	11.37:g.56128446G>A	ENSP00000304060:p.Ala242Thr						p.A242T	NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN			1	724	+	Esophageal squamous(21;0.00448)		242			Helical; Name=6; (Potential).		B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Missense_Mutation	SNP	ENST00000303039.3	37	c.724G>A	CCDS31529.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.559245	0.27827	.	.	ENSG00000172487	ENST00000303039	T	0.36878	1.23	3.9	3.9	0.45041	GPCR, rhodopsin-like superfamily (1);	0.498363	0.20235	N	0.096410	T	0.31949	0.0813	L	0.42008	1.315	0.23320	N	0.997915	B	0.13145	0.007	B	0.30251	0.113	T	0.20075	-1.0286	10	0.48119	T	0.1	.	8.9155	0.35579	0.1065:0.0:0.8935:0.0	.	242	Q8NGP2	OR8J1_HUMAN	T	242	ENSP00000304060:A242T	ENSP00000304060:A242T	A	+	1	0	OR8J1	55885022	0.000000	0.05858	1.000000	0.80357	0.640000	0.38277	-0.056000	0.11787	2.180000	0.69256	0.542000	0.68232	GCT		0.348	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391606.2	NM_001005205		49	79	0	0	0	0	49	79				
SERPING1	710	broad.mit.edu	37	11	57379390	57379390	+	Silent	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:57379390C>A	ENST00000278407.4	+	7	1457	c.1230C>A	c.(1228-1230)ctC>ctA	p.L410L	SERPING1_ENST00000378323.4_Silent_p.L415L|SERPING1_ENST00000340687.6_Silent_p.L373L|SERPING1_ENST00000403558.1_Silent_p.L453L|SERPING1_ENST00000378324.2_Silent_p.L358L	NM_000062.2	NP_000053.2	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	410					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						AGGATATGCTCTCAATCATGG	0.502																																						uc001nkp.1		NA																	0				central_nervous_system(1)	1						c.(1228-1230)CTC>CTA		serpin peptidase inhibitor, clade G, member 1							93.0	88.0	90.0					11																	57379390		2201	4296	6497	SO:0001819	synonymous_variant	710	Hereditary_Angioedema			blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity	g.chr11:57379390C>A	X54486	CCDS7962.1	11q12.1	2014-09-17	2008-07-31		ENSG00000149131	ENSG00000149131		"""Serine (or cysteine) peptidase inhibitors"""	1228	protein-coding gene	gene with protein product	"""plasma protease C1 inhibitor"", ""angioedema, hereditary"""	606860	"""serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)"""	C1NH		2026152, 24172014	Standard	NM_000062		Approved	C1IN, C1-INH, HAE1, HAE2	uc001nkp.1	P05155	OTTHUMG00000150304	ENST00000278407.4:c.1230C>A	11.37:g.57379390C>A						SERPING1_uc001nkq.1_Silent_p.L373L|SERPING1_uc010rju.1_Silent_p.L358L|SERPING1_uc010rjv.1_Silent_p.L415L|SERPING1_uc001nkr.1_Silent_p.L410L|SERPING1_uc009ymi.1_Silent_p.L419L|SERPING1_uc009ymj.1_Intron|SERPING1_uc001nks.1_Silent_p.L101L	p.L410L	NM_000062	NP_000053	P05155	IC1_HUMAN			7	1421	+			410					A6NMU0|A8KAI9|B2R6L5|B4E1F0|B4E1H2|Q16304|Q547W3|Q59EI5|Q7Z455|Q96FE0|Q9UC49|Q9UCF9	Silent	SNP	ENST00000278407.4	37	c.1230C>A	CCDS7962.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.415112	0.01145	.	.	ENSG00000149131	ENST00000433668	.	.	.	4.33	3.41	0.39046	.	0.597999	0.16352	N	0.218181	T	0.34629	0.0904	.	.	.	0.27088	N	0.962915	.	.	.	.	.	.	T	0.23332	-1.0191	6	0.38643	T	0.18	.	4.8055	0.13317	0.1985:0.18:0.6214:0.0	.	.	.	.	I	121	.	ENSP00000399800:L121I	L	+	1	0	SERPING1	57135966	0.647000	0.27304	0.429000	0.26710	0.970000	0.65996	0.729000	0.26028	0.410000	0.25675	-0.216000	0.12614	CTC		0.502	SERPING1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317465.1	NM_000062		28	49	1	0	3.7e-05	4.17e-05	28	49				
OR5B17	219965	broad.mit.edu	37	11	58126398	58126398	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:58126398G>C	ENST00000357377.3	-	1	144	c.145C>G	c.(145-147)Ctg>Gtg	p.L49V		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	49						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGAGAGTCCAGCAGGATTAAT	0.463																																						uc010rke.1		NA																	0				ovary(2)|skin(1)	3						c.(145-147)CTG>GTG		olfactory receptor, family 5, subfamily B,							83.0	79.0	81.0					11																	58126398		2201	4295	6496	SO:0001583	missense	219965				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58126398G>C	AB065849	CCDS31548.1	11q12.1	2012-08-09			ENSG00000197786	ENSG00000197786		"""GPCR / Class A : Olfactory receptors"""	15267	protein-coding gene	gene with protein product				OR5B20P			Standard	NM_001005489		Approved		uc010rke.2	Q8NGF7	OTTHUMG00000167465	ENST00000357377.3:c.145C>G	11.37:g.58126398G>C	ENSP00000349945:p.Leu49Val						p.L49V	NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN			1	145	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	49			Cytoplasmic (Potential).		Q6IEX1	Missense_Mutation	SNP	ENST00000357377.3	37	c.145C>G	CCDS31548.1	.	.	.	.	.	.	.	.	.	.	g	7.950	0.744765	0.15710	.	.	ENSG00000197786	ENST00000357377	T	0.02944	4.1	3.6	-7.05	0.01573	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.02418	0.0074	L	0.39397	1.21	0.09310	N	1	B	0.23316	0.083	B	0.23852	0.049	T	0.39354	-0.9618	9	0.31617	T	0.26	-11.473	7.1305	0.25497	0.7016:0.0:0.1702:0.1281	.	49	Q8NGF7	OR5BH_HUMAN	V	49	ENSP00000349945:L49V	ENSP00000349945:L49V	L	-	1	2	OR5B17	57882974	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-6.029000	0.00084	-1.840000	0.01184	-1.464000	0.01018	CTG		0.463	OR5B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394708.2	NM_001005489		40	71	0	0	0	0	40	71				
TCN1	6947	broad.mit.edu	37	11	59626621	59626621	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:59626621C>G	ENST00000257264.3	-	5	780	c.676G>C	c.(676-678)Gaa>Caa	p.E226Q	TCN1_ENST00000532419.1_Intron	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	226	Globular N-terminal alpha domain.				cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cobalamin binding (GO:0031419)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGAATCTTTTCTACCAGTGAC	0.413																																						uc001noj.2		NA																	0				ovary(2)	2						c.(676-678)GAA>CAA		transcobalamin I precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						183.0	171.0	175.0					11																	59626621		2201	4295	6496	SO:0001583	missense	6947				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding	g.chr11:59626621C>G	J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827			11652	protein-coding gene	gene with protein product	"""haptocorin"", ""haptocorrin"""	189905					Standard	NM_001062		Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.676G>C	11.37:g.59626621C>G	ENSP00000257264:p.Glu226Gln						p.E226Q	NM_001062	NP_001053	P20061	TCO1_HUMAN			5	774	-		all_epithelial(135;0.198)	226					A8KAC5|Q8WV77	Missense_Mutation	SNP	ENST00000257264.3	37	c.676G>C	CCDS7978.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.321693	0.23994	.	.	ENSG00000134827	ENST00000257264	T	0.37752	1.18	4.92	-0.66	0.11421	.	1.118330	0.06867	N	0.800057	T	0.23727	0.0574	L	0.38175	1.15	0.09310	N	1	B	0.30211	0.273	B	0.29176	0.099	T	0.25502	-1.0130	10	0.18710	T	0.47	-11.6957	4.2948	0.10895	0.0:0.3979:0.2093:0.3927	.	226	P20061	TCO1_HUMAN	Q	226	ENSP00000257264:E226Q	ENSP00000257264:E226Q	E	-	1	0	TCN1	59383197	0.000000	0.05858	0.050000	0.19076	0.010000	0.07245	-1.295000	0.02764	0.015000	0.14971	-0.312000	0.09012	GAA		0.413	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394503.1	NM_001062		56	105	0	0	0	0	56	105				
ZP1	22917	broad.mit.edu	37	11	60637115	60637115	+	Silent	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:60637115C>A	ENST00000278853.5	+	3	424	c.424C>A	c.(424-426)Cgg>Agg	p.R142R		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	142					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						TGACCCCTCCCGGACTCTGGA	0.597																																						uc001nqd.2		NA																	0					0						c.(424-426)CGG>AGG		zona pellucida glycoprotein 1 precursor							115.0	119.0	118.0					11																	60637115		2203	4299	6502	SO:0001819	synonymous_variant	22917				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:60637115C>A	BC067899	CCDS31572.1	11q12.2	2013-01-17			ENSG00000149506	ENSG00000149506		"""Zona pellucida glycoproteins"""	13187	protein-coding gene	gene with protein product		195000				10542331	Standard	NM_207341		Approved		uc001nqd.3	P60852	OTTHUMG00000167797	ENST00000278853.5:c.424C>A	11.37:g.60637115C>A						ZP1_uc001nqe.2_5'Flank	p.R142R	NM_207341	NP_997224	P60852	ZP1_HUMAN			3	444	+			142			Extracellular (Potential).			Silent	SNP	ENST00000278853.5	37	c.424C>A	CCDS31572.1																																																																																				0.597	ZP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396329.1	NM_207341		20	27	1	0	3.08e-08	3.78e-08	20	27				
DDB1	1642	broad.mit.edu	37	11	61094321	61094321	+	Silent	SNP	T	T	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:61094321T>A	ENST00000301764.7	-	5	991	c.594A>T	c.(592-594)cgA>cgT	p.R198R	DDB1_ENST00000545930.1_5'UTR|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	198	Interaction with CDT1.|WD repeat beta-propeller A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						ATTCCTTTTCTCGGAGAGACA	0.522								Nucleotide excision repair (NER)																														uc001nrc.3		NA																	0				ovary(2)|lung(1)|central_nervous_system(1)	4						c.(592-594)CGA>CGT	NER	damage-specific DNA binding protein 1							172.0	180.0	177.0					11																	61094321		2203	4299	6502	SO:0001819	synonymous_variant	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61094321T>A	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.594A>T	11.37:g.61094321T>A						DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Silent_p.R198R|DDB1_uc010rlg.1_RNA|DDB1_uc001nrd.2_Silent_p.R198R|DDB1_uc009ynl.1_Silent_p.R85R	p.R198R	NM_001923	NP_001914	Q16531	DDB1_HUMAN			5	820	-			198			Interaction with CDT1.		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Silent	SNP	ENST00000301764.7	37	c.594A>T	CCDS31576.1																																																																																				0.522	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		97	158	0	0	0	0	97	158				
AHNAK	79026	broad.mit.edu	37	11	62296993	62296993	+	Silent	SNP	T	T	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:62296993T>C	ENST00000378024.4	-	5	5170	c.4896A>G	c.(4894-4896)ccA>ccG	p.P1632P	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1632					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ACTTCCCTTCTGGACCTTCAA	0.473																																						uc001ntl.2		NA																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(4894-4896)CCA>CCG		AHNAK nucleoprotein isoform 1							115.0	124.0	121.0					11																	62296993		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62296993T>C	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.4896A>G	11.37:g.62296993T>C						AHNAK_uc001ntk.1_Intron	p.P1632P	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	5196	-		Melanoma(852;0.155)	1632					A1A586	Silent	SNP	ENST00000378024.4	37	c.4896A>G	CCDS31584.1																																																																																				0.473	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		99	142	0	0	0	0	99	142				
NRXN2	9379	broad.mit.edu	37	11	64415749	64415749	+	Missense_Mutation	SNP	C	C	A	rs572638295		TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:64415749C>A	ENST00000377551.1	-	16	3556	c.3345G>T	c.(3343-3345)tgG>tgT	p.W1115C	AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000377559.3_Missense_Mutation_p.W1075C|NRXN2_ENST00000265459.6_Missense_Mutation_p.W1115C|NRXN2_ENST00000409571.1_Missense_Mutation_p.W1108C			Q9P2S2	NRX2A_HUMAN	neurexin 2	1115	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TGAAGCCATCCCACTGCTGCA	0.627																																						uc001oar.2		NA																	0				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						c.(3343-3345)TGG>TGT		neurexin 2 isoform alpha-1 precursor							109.0	95.0	100.0					11																	64415749		2201	4297	6498	SO:0001583	missense	9379				cell adhesion	integral to membrane		g.chr11:64415749C>A		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.3345G>T	11.37:g.64415749C>A	ENSP00000366774:p.Trp1115Cys					NRXN2_uc001oas.2_Missense_Mutation_p.W1075C|NRXN2_uc001oaq.2_Missense_Mutation_p.W782C	p.W1115C	NM_015080	NP_055895	P58401	NRX2B_HUMAN			18	3784	-			Error:Variant_position_missing_in_P58401_after_alignment					A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	c.3345G>T	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.554227	0.65425	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1	4.34	3.41	0.39046	Concanavalin A-like lectin/glucanase (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.45606	U	0.000342	D	0.95159	0.8431	H	0.96576	3.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.996	D	0.95336	0.8434	10	0.87932	D	0	.	11.1837	0.48644	0.1851:0.8149:0.0:0.0	.	1075;1115;861	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	C	1115;1075;1115;1075;1108	ENSP00000366774:W1115C;ENSP00000366782:W1075C;ENSP00000265459:W1115C;ENSP00000386416:W1108C	ENSP00000265459:W1115C	W	-	3	0	NRXN2	64172325	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.318000	0.79029	1.010000	0.39314	0.655000	0.94253	TGG		0.627	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		34	62	1	0	1.63e-12	2.16e-12	34	62				
ANKRD13D	338692	broad.mit.edu	37	11	67068516	67068516	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:67068516G>T	ENST00000447274.2	+	11	2043	c.868G>T	c.(868-870)Gtg>Ttg	p.V290L	ANKRD13D_ENST00000515828.1_Missense_Mutation_p.V27L|SSH3_ENST00000308127.4_5'Flank|SSH3_ENST00000376757.5_5'Flank|ANKRD13D_ENST00000511455.2_Missense_Mutation_p.V377L|ANKRD13D_ENST00000308440.6_Missense_Mutation_p.V290L|ANKRD13D_ENST00000514166.1_Missense_Mutation_p.V290L|SSH3_ENST00000308298.7_5'Flank			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	290						endosome (GO:0005768)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GGGTGACCAGGTGACCCCCAT	0.607																																						uc001okc.1		NA																	0				ovary(1)	1						c.(868-870)GTG>TTG		ankyrin repeat domain 13 family, member D							140.0	114.0	123.0					11																	67068516		2200	4295	6495	SO:0001583	missense	338692							g.chr11:67068516G>T	AK027313	CCDS31616.1, CCDS31616.2	11q13.2	2013-01-11		2005-08-09	ENSG00000172932	ENSG00000172932		"""Ankyrin repeat domain containing"""	27880	protein-coding gene	gene with protein product		615126					Standard	NM_207354		Approved		uc001okd.2	Q6ZTN6	OTTHUMG00000162929	ENST00000447274.2:c.868G>T	11.37:g.67068516G>T	ENSP00000402616:p.Val290Leu					ANKRD13D_uc001okd.1_Missense_Mutation_p.V377L|ANKRD13D_uc001oke.1_Missense_Mutation_p.V290L|ANKRD13D_uc001okg.1_Missense_Mutation_p.V73L|ANKRD13D_uc001okh.1_Missense_Mutation_p.V73L|ANKRD13D_uc001oki.1_Missense_Mutation_p.V27L|SSH3_uc001okj.2_5'Flank|SSH3_uc001okk.2_5'Flank|SSH3_uc001okl.2_5'Flank	p.V290L	NM_207354	NP_997237	Q6ZTN6	AN13D_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		12	1379	+			290					D6RCN6|Q0VAK0|Q0VGC3|Q6ZVD0|Q86SU1	Missense_Mutation	SNP	ENST00000447274.2	37	c.868G>T		.	.	.	.	.	.	.	.	.	.	G	17.64	3.439548	0.63067	.	.	ENSG00000172932	ENST00000447274;ENST00000511455;ENST00000308440;ENST00000514166;ENST00000515828	T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09	4.86	4.86	0.63082	.	0.073568	0.53938	D	0.000052	T	0.40094	0.1103	L	0.37466	1.105	0.80722	D	1	P;B;B	0.51147	0.942;0.073;0.08	P;B;B	0.48304	0.573;0.068;0.05	T	0.09422	-1.0675	10	0.10377	T	0.69	-19.713	17.7879	0.88543	0.0:0.0:1.0:0.0	.	27;377;290	Q6ZTN6-2;Q6ZTN6-3;Q6ZTN6	.;.;AN13D_HUMAN	L	290;377;290;290;27	ENSP00000402616:V290L;ENSP00000427130:V377L;ENSP00000310874:V290L;ENSP00000444404:V290L;ENSP00000443977:V27L	ENSP00000310874:V290L	V	+	1	0	ANKRD13D	66825092	1.000000	0.71417	1.000000	0.80357	0.354000	0.29330	9.574000	0.98184	2.517000	0.84864	0.561000	0.74099	GTG		0.607	ANKRD13D-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000371067.2	NM_207354		16	29	1	0	3.53e-06	4.11e-06	16	29				
TBX10	347853	broad.mit.edu	37	11	67399229	67399229	+	Silent	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:67399229C>G	ENST00000335385.3	-	8	1092	c.1005G>C	c.(1003-1005)ccG>ccC	p.P335P	NUDT8_ENST00000376693.2_5'Flank|NUDT8_ENST00000301490.4_5'Flank	NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	335					anatomical structure morphogenesis (GO:0009653)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|lung(4)|ovary(1)	7						CTAGGTGGCTCGGGGCTCCAG	0.652																																						uc001omp.2		NA																	0					0						c.(1003-1005)CCG>CCC		T-box 10							39.0	38.0	38.0					11																	67399229		2198	4292	6490	SO:0001819	synonymous_variant	347853				anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:67399229C>G	AH006177	CCDS31621.1	11q13.2	2005-10-11	2004-10-05		ENSG00000167800	ENSG00000167800		"""T-boxes"""	11593	protein-coding gene	gene with protein product		604648	"""T-box 7"""	TBX7		9545502	Standard	NM_005995		Approved	TBX13	uc001omp.3	O75333	OTTHUMG00000167291	ENST00000335385.3:c.1005G>C	11.37:g.67399229C>G						NUDT8_uc001omn.2_5'Flank|NUDT8_uc001omo.1_5'Flank	p.P335P	NM_005995	NP_005986	O75333	TBX10_HUMAN			8	1093	-			335					Q14D64|Q86XS3	Silent	SNP	ENST00000335385.3	37	c.1005G>C	CCDS31621.1																																																																																				0.652	TBX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394034.1	NM_005995		7	12	0	0	0	0	7	12				
LRP5	4041	broad.mit.edu	37	11	68181317	68181317	+	Silent	SNP	C	C	T	rs373351312		TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:68181317C>T	ENST00000294304.7	+	12	2770	c.2664C>T	c.(2662-2664)ttC>ttT	p.F888F		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	888	Beta-propeller 3.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACCTGGACTTCGTGATGGACA	0.592																																						uc001ont.2		NA																	0				lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						c.(2662-2664)TTC>TTT		low density lipoprotein receptor-related protein		C		0,4400		0,0,2200	88.0	77.0	81.0		2664	-0.1	1.0	11		81	1,8587	1.2+/-3.3	0,1,4293	no	coding-synonymous	LRP5	NM_002335.2		0,1,6493	TT,TC,CC		0.0116,0.0,0.0077		888/1616	68181317	1,12987	2200	4294	6494	SO:0001819	synonymous_variant	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68181317C>T	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.2664C>T	11.37:g.68181317C>T						LRP5_uc009ysg.2_Silent_p.F298F	p.F888F	NM_002335	NP_002326	O75197	LRP5_HUMAN			12	2739	+			888			Beta-propeller 3.|LDL-receptor class B 15.|Extracellular (Potential).		Q96TD6|Q9UES7|Q9UP66	Silent	SNP	ENST00000294304.7	37	c.2664C>T	CCDS8181.1																																																																																				0.592	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		27	33	0	0	0	0	27	33				
SHANK2	22941	broad.mit.edu	37	11	70332941	70332941	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:70332941G>T	ENST00000423696.2	-	15	2356	c.2320C>A	c.(2320-2322)Ccc>Acc	p.P774T	SHANK2_ENST00000338508.4_Missense_Mutation_p.P1154T|SHANK2_ENST00000409161.1_Missense_Mutation_p.P557T|SHANK2_ENST00000449833.2_Missense_Mutation_p.P558T			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	774					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TGGTTTTCGGGCTCCCTGGGC	0.677																																						uc001oqc.2		NA																	0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(3457-3459)CCC>ACC		SH3 and multiple ankyrin repeat domains 2							32.0	37.0	35.0					11																	70332941		2198	4288	6486	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70332941G>T	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.2320C>A	11.37:g.70332941G>T	ENSP00000394536:p.Pro774Thr					SHANK2_uc010rqn.1_Missense_Mutation_p.P565T|SHANK2_uc001opz.2_Missense_Mutation_p.P558T|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	p.P1153T	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		21	3535	-			774					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.3457C>A		.	.	.	.	.	.	.	.	.	.	G	3.140	-0.176555	0.06380	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86	5.05	1.84	0.25277	.	0.880187	0.10259	N	0.696193	T	0.36608	0.0973	L	0.44542	1.39	0.80722	D	1	B;B;B	0.30146	0.27;0.089;0.231	B;B;B	0.32465	0.146;0.075;0.108	T	0.17715	-1.0360	10	0.22706	T	0.39	.	5.7845	0.18326	0.2059:0.2759:0.5182:0.0	.	774;1153;558	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	T	558;557;432;1154;774;792;777	ENSP00000399423:P558T;ENSP00000386491:P557T;ENSP00000402944:P432T;ENSP00000345193:P1154T;ENSP00000394536:P774T;ENSP00000294018:P777T	ENSP00000294018:P777T	P	-	1	0	SHANK2	70010589	1.000000	0.71417	0.994000	0.49952	0.107000	0.19398	2.529000	0.45632	1.111000	0.41721	-0.304000	0.09214	CCC		0.677	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		34	49	1	0	2.2e-25	3.31e-25	34	49				
KRTAP5-9	3846	broad.mit.edu	37	11	71260116	71260116	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:71260116C>T	ENST00000528743.2	+	1	651	c.413C>T	c.(412-414)tCa>tTa	p.S138L		NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN	keratin associated protein 5-9	138	8 X 4 AA repeats of C-C-X-P.				epidermis development (GO:0008544)	keratin filament (GO:0045095)				kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						TGCTCATCCTCAGGCTGTGGG	0.612																																						uc001oqs.1		NA																	0					0						c.(412-414)TCA>TTA		keratin associated protein 5-9							114.0	127.0	123.0					11																	71260116		2199	4293	6492	SO:0001583	missense	3846				epidermis development	keratin filament		g.chr11:71260116C>T	AB126078	CCDS53677.1	11q13.4	2008-02-05				ENSG00000254997		"""Keratin associated proteins"""	23604	protein-coding gene	gene with protein product		148021		KRN1		15144888	Standard	NM_005553		Approved	KRTAP5.9, KRTAP5-1	uc001oqs.1	P26371		ENST00000528743.2:c.413C>T	11.37:g.71260116C>T	ENSP00000431443:p.Ser138Leu						p.S138L	NM_005553	NP_005544	P26371	KRA59_HUMAN			1	651	+			138			8 X 4 AA repeats of C-C-X-P.		Q14564|Q3MIP8	Missense_Mutation	SNP	ENST00000528743.2	37	c.413C>T	CCDS53677.1	.	.	.	.	.	.	.	.	.	.	N	9.496	1.101896	0.20632	.	.	ENSG00000254997	ENST00000528743	T	0.04809	3.55	1.54	-1.07	0.09968	.	.	.	.	.	T	0.09555	0.0235	M	0.89601	3.045	0.09310	N	1	B	0.19706	0.038	B	0.22386	0.039	T	0.27262	-1.0079	9	0.56958	D	0.05	.	4.7832	0.13213	0.2135:0.3139:0.4726:0.0	.	138	P26371	KRA59_HUMAN	L	138	ENSP00000431443:S138L	ENSP00000431443:S138L	S	+	2	0	KRTAP5-9	70937764	0.001000	0.12720	0.003000	0.11579	0.001000	0.01503	0.016000	0.13377	-0.254000	0.09500	-0.749000	0.03505	TCA		0.612	KRTAP5-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393901.2			93	163	0	0	0	0	93	163				
P4HA3	283208	broad.mit.edu	37	11	74013546	74013546	+	Missense_Mutation	SNP	G	G	T	rs371289114		TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:74013546G>T	ENST00000331597.4	-	3	480	c.435C>A	c.(433-435)gaC>gaA	p.D145E	P4HA3_ENST00000427714.2_Missense_Mutation_p.D145E	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	145						endoplasmic reticulum (GO:0005783)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					GCATGTACACGTCCTGCAGCC	0.552																																						uc001ouz.2		NA																	0				skin(1)	1						c.(433-435)GAC>GAA		prolyl 4-hydroxylase, alpha III subunit							114.0	112.0	113.0					11																	74013546		2200	4293	6493	SO:0001583	missense	283208					endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity	g.chr11:74013546G>T	AY327887	CCDS8230.1, CCDS73347.1	11q13	2008-12-09	2008-12-09			ENSG00000149380			30135	protein-coding gene	gene with protein product	"""collagen prolyl 4-hydroxylase alpha(III)"""	608987	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III"""			14500733	Standard	XM_005273924		Approved	C-P4Halpha(III)	uc001ouz.3	Q7Z4N8		ENST00000331597.4:c.435C>A	11.37:g.74013546G>T	ENSP00000332170:p.Asp145Glu					P4HA3_uc001ouy.3_RNA|P4HA3_uc010rrj.1_Missense_Mutation_p.D145E	p.D145E	NM_182904	NP_878907	Q7Z4N8	P4HA3_HUMAN			3	478	-	Breast(11;2.31e-05)		145					A0AV13|B4DUD3|Q5EBL3|Q5JPA9	Missense_Mutation	SNP	ENST00000331597.4	37	c.435C>A	CCDS8230.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.071373	0.76301	.	.	ENSG00000149380	ENST00000331597;ENST00000427714	T;T	0.58797	0.4;0.31	4.96	-6.93	0.01638	Prolyl 4-hydroxylase alpha-subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.63593	0.2524	L	0.53561	1.675	0.42224	D	0.991867	D;P	0.76494	0.999;0.787	D;P	0.71656	0.974;0.604	T	0.71497	-0.4575	10	0.87932	D	0	-23.627	13.6038	0.62035	0.4958:0.0:0.5042:0.0	.	145;145	B4DUD3;Q7Z4N8	.;P4HA3_HUMAN	E	145	ENSP00000332170:D145E;ENSP00000401749:D145E	ENSP00000332170:D145E	D	-	3	2	P4HA3	73691194	0.354000	0.24912	0.873000	0.34254	0.981000	0.71138	-0.357000	0.07651	-1.436000	0.01970	-0.972000	0.02603	GAC		0.552	P4HA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382988.1	NM_182904		56	109	1	0	5.82e-30	8.85e-30	56	109				
CHRDL2	25884	broad.mit.edu	37	11	74408263	74408263	+	Silent	SNP	A	A	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:74408263A>G	ENST00000376332.3	-	10	1696	c.1200T>C	c.(1198-1200)gcT>gcC	p.A400A	CHRDL2_ENST00000263671.5_Missense_Mutation_p.W419R	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	400					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|ossification (GO:0001503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					CGTGGGGGCCAGCGAGCAGTC	0.587																																						uc001ovi.2		NA																	0					0						c.(1198-1200)GCT>GCC		RecName: Full=Chordin-like protein 2; AltName: Full=Chordin-related protein 2; AltName: Full=Breast tumor novel factor 1;          Short=BNF-1; Flags: Precursor;							93.0	87.0	89.0					11																	74408263		2200	4293	6493	SO:0001819	synonymous_variant	25884				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion		g.chr11:74408263A>G	AL110168	CCDS8234.1, CCDS60893.1	11q13.4	2013-09-20			ENSG00000054938	ENSG00000054938			24168	protein-coding gene	gene with protein product		613127				12853144, 12975309	Standard	NM_015424		Approved	BNF1	uc001ovh.3	Q6WN34	OTTHUMG00000165623	ENST00000376332.3:c.1200T>C	11.37:g.74408263A>G						CHRDL2_uc001ovg.2_Silent_p.A284A|CHRDL2_uc001ovh.2_Missense_Mutation_p.W419R	p.A400A			Q6WN34	CRDL2_HUMAN			10	1453	-	Hepatocellular(1;0.098)		400					A5PKU9|Q6WN30|Q6WN31|Q6WN32|Q7Z5J3	Silent	SNP	ENST00000376332.3	37	c.1200T>C		.	.	.	.	.	.	.	.	.	.	A	2.474	-0.321282	0.05386	.	.	ENSG00000054938	ENST00000263671	T	0.40756	1.02	5.28	-2.95	0.05564	.	3.827400	0.00520	N	0.000181	T	0.18964	0.0455	N	0.08118	0	0.49130	D	0.999755	B	0.02656	0.0	B	0.01281	0.0	T	0.51434	-0.8706	10	0.05959	T	0.93	-0.7093	5.834	0.18597	0.5003:0.0:0.3709:0.1288	.	419	Q6WN34-2	.	R	419	ENSP00000263671:W419R	ENSP00000263671:W419R	W	-	1	0	CHRDL2	74085911	0.227000	0.23707	0.892000	0.35008	0.850000	0.48378	-0.145000	0.10265	-0.119000	0.11830	0.482000	0.46254	TGG		0.587	CHRDL2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000385391.1			40	68	0	0	0	0	40	68				
OR2AT4	341152	broad.mit.edu	37	11	74800700	74800700	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:74800700C>T	ENST00000305159.3	-	1	99	c.59G>A	c.(58-60)gGc>gAc	p.G20D		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						AGAGGGGATGCCCAATAGATA	0.507																																						uc010rro.1		NA																	0				ovary(1)	1						c.(58-60)GGC>GAC		olfactory receptor, family 2, subfamily AT,							59.0	61.0	60.0					11																	74800700		2200	4293	6493	SO:0001583	missense	341152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:74800700C>T	BK004820	CCDS31639.1	11q13.4	2012-08-09			ENSG00000171561	ENSG00000171561		"""GPCR / Class A : Olfactory receptors"""	19620	protein-coding gene	gene with protein product							Standard	NM_001005285		Approved		uc010rro.2	A6NND4	OTTHUMG00000165370	ENST00000305159.3:c.59G>A	11.37:g.74800700C>T	ENSP00000304846:p.Gly20Asp						p.G20D	NM_001005285	NP_001005285	A6NND4	O2AT4_HUMAN			1	59	-			20			Extracellular (Potential).		B9EGZ8	Missense_Mutation	SNP	ENST00000305159.3	37	c.59G>A	CCDS31639.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.468066	0.63625	.	.	ENSG00000171561	ENST00000305159	T	0.00655	5.95	5.0	5.0	0.66597	.	0.000000	0.33753	U	0.004591	T	0.01387	0.0045	N	0.08118	0	0.49582	D	0.999801	D	0.76494	0.999	P	0.60345	0.873	T	0.79867	-0.1622	10	0.87932	D	0	.	16.1719	0.81822	0.0:1.0:0.0:0.0	.	20	A6NND4	O2AT4_HUMAN	D	20	ENSP00000304846:G20D	ENSP00000304846:G20D	G	-	2	0	OR2AT4	74478348	0.937000	0.31787	1.000000	0.80357	0.529000	0.34654	3.088000	0.50175	2.486000	0.83907	0.561000	0.74099	GGC		0.507	OR2AT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383734.1	NM_001005285		28	39	0	0	0	0	28	39				
MMP12	4321	broad.mit.edu	37	11	102738033	102738033	+	RNA	SNP	G	G	C	rs571598878		TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:102738033G>C	ENST00000532855.1	-	0	974							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	TATTTCCCACGGTAGTGACAG	0.368																																						uc001phk.2		NA																	0					0						c.(877-879)ACC>ACG		matrix metalloproteinase 12 preproprotein	Acetohydroxamic Acid(DB00551)						102.0	94.0	97.0					11																	102738033		1836	4090	5926			4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102738033G>C	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102738033G>C							p.T293T	NM_002426	NP_002417	P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	7	924	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	293			Hemopexin-like 1.		B2R9X8|B7ZLF6|Q2M1L9	Silent	SNP	ENST00000532855.1	37	c.879C>G																																																																																					0.368	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		7	3	0	0	0	0	7	3				
PIH1D2	120379	broad.mit.edu	37	11	111938637	111938637	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:111938637G>C	ENST00000280350.4	-	6	1128	c.906C>G	c.(904-906)atC>atG	p.I302M	PIH1D2_ENST00000528775.1_Intron|PIH1D2_ENST00000431456.1_Intron|PIH1D2_ENST00000532211.1_Missense_Mutation_p.I302M	NM_138789.3	NP_620144.1	Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2	302										endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-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;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		ATTTTTCTTTGATAAATTTTG	0.333																																						uc001pmq.3		NA																	0				ovary(1)	1						c.(904-906)ATC>ATG		PIH1 domain containing 2 isoform 1							152.0	145.0	147.0					11																	111938637		2201	4296	6497	SO:0001583	missense	120379							g.chr11:111938637G>C	BC019238	CCDS8355.1, CCDS44730.1	11q23.1	2007-01-31			ENSG00000150773	ENSG00000150773			25210	protein-coding gene	gene with protein product						12477932	Standard	NM_138789		Approved		uc001pmp.4	Q8WWB5	OTTHUMG00000166925	ENST00000280350.4:c.906C>G	11.37:g.111938637G>C	ENSP00000280350:p.Ile302Met					PIH1D2_uc009yyl.2_Intron|PIH1D2_uc001pmp.3_Missense_Mutation_p.I302M	p.I302M	NM_138789	NP_620144	Q8WWB5	PIHD2_HUMAN		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)	6	988	-		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-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)	302					B4DU48|E9PD82	Missense_Mutation	SNP	ENST00000280350.4	37	c.906C>G	CCDS8355.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.776880	0.49786	.	.	ENSG00000150773	ENST00000532211;ENST00000280350	T;T	0.17213	2.29;2.29	5.39	3.52	0.40303	.	0.308537	0.36482	N	0.002561	T	0.26011	0.0634	.	.	.	0.24791	N	0.992753	P	0.49696	0.927	P	0.55161	0.77	T	0.06826	-1.0805	9	0.62326	D	0.03	-4.8627	5.4434	0.16521	0.2165:0.0:0.6369:0.1466	.	302	Q8WWB5	PIHD2_HUMAN	M	302	ENSP00000431841:I302M;ENSP00000280350:I302M	ENSP00000280350:I302M	I	-	3	3	PIH1D2	111443847	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	1.099000	0.31013	0.837000	0.34925	0.471000	0.43371	ATC		0.333	PIH1D2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391916.1	NM_138789		38	33	0	0	0	0	38	33				
NXPE1	120400	broad.mit.edu	37	11	114393726	114393726	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:114393726G>A	ENST00000424269.1	-	4	982	c.983C>T	c.(982-984)aCa>aTa	p.T328I	NXPE1_ENST00000251921.2_Missense_Mutation_p.T186I|NXPE1_ENST00000536271.1_Missense_Mutation_p.T44I			Q8N323	NXPE1_HUMAN	neurexophilin and PC-esterase domain family, member 1	328						extracellular region (GO:0005576)											GTTGCAAAATGTTGTTATCCA	0.403																																						uc001ppa.2		NA																	0					0						c.(556-558)ACA>ATA		hypothetical protein LOC120400							110.0	96.0	101.0					11																	114393726		2201	4296	6497	SO:0001583	missense	120400					extracellular region		g.chr11:114393726G>A	BC029049	CCDS8372.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000095110	ENSG00000095110			28527	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member A"""	FAM55A		12477932	Standard	NM_152315		Approved	MGC34290	uc001ppa.3	Q8N323	OTTHUMG00000168284	ENST00000424269.1:c.983C>T	11.37:g.114393726G>A	ENSP00000411690:p.Thr328Ile					FAM55A_uc010rxd.1_Missense_Mutation_p.T35I	p.T186I	NM_152315	NP_689528	Q8N323	FA55A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106)	5	974	-		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)	328					B0YJ13	Missense_Mutation	SNP	ENST00000424269.1	37	c.557C>T		.	.	.	.	.	.	.	.	.	.	G	11.17	1.560582	0.27827	.	.	ENSG00000095110	ENST00000536271;ENST00000251921;ENST00000424269	T;T;T	0.14893	2.48;2.47;2.69	4.21	2.32	0.28847	.	0.540852	0.18602	N	0.136403	T	0.12050	0.0293	L	0.43152	1.355	0.09310	N	1	B	0.15473	0.013	B	0.14023	0.01	T	0.21930	-1.0231	10	0.23302	T	0.38	.	5.2147	0.15336	0.3351:0.0:0.6649:0.0	.	328	Q8N323	FA55A_HUMAN	I	44;186;328	ENSP00000445200:T44I;ENSP00000251921:T186I;ENSP00000411690:T328I	ENSP00000251921:T186I	T	-	2	0	FAM55A	113898936	0.003000	0.15002	0.004000	0.12327	0.606000	0.37113	1.123000	0.31308	1.074000	0.40909	0.650000	0.86243	ACA		0.403	NXPE1-201	KNOWN	basic	protein_coding	protein_coding		NM_152315		19	12	0	0	0	0	19	12				
NXPE4	54827	broad.mit.edu	37	11	114453199	114453199	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:114453199T>G	ENST00000375478.3	-	3	821	c.641A>C	c.(640-642)cAa>cCa	p.Q214P	NXPE4_ENST00000424261.2_Intron	NM_001077639.1	NP_001071107.1	Q6UWF7	NXPE4_HUMAN	neurexophilin and PC-esterase domain family, member 4	214						extracellular vesicular exosome (GO:0070062)											AGAGTGGACTTGGGAAGTGCC	0.512																																						uc001ppc.2		NA																	0				ovary(2)|skin(2)	4						c.(640-642)CAA>CCA		hypothetical protein LOC54827 isoform 1							93.0	98.0	96.0					11																	114453199		2182	4292	6474	SO:0001583	missense	54827					extracellular region		g.chr11:114453199T>G	AK000134	CCDS41718.1, CCDS44737.1	11q23.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000137634	ENSG00000137634			23117	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 33"", ""family with sequence similarity 55, member D"""	C11orf33, FAM55D		20056006	Standard	NM_017678		Approved	FLJ20127	uc001ppc.3	Q6UWF7	OTTHUMG00000168291	ENST00000375478.3:c.641A>C	11.37:g.114453199T>G	ENSP00000364627:p.Gln214Pro					FAM55D_uc001ppd.2_Intron	p.Q214P	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)	3	822	-		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)	214					Q6QDB4|Q9NXP5	Missense_Mutation	SNP	ENST00000375478.3	37	c.641A>C	CCDS41718.1	.	.	.	.	.	.	.	.	.	.	T	1.479	-0.557641	0.03967	.	.	ENSG00000137634	ENST00000375478	T	0.12147	2.71	5.16	-1.43	0.08884	.	1.458810	0.03917	N	0.282888	T	0.07999	0.0200	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.34129	-0.9841	10	0.28530	T	0.3	.	4.8971	0.13755	0.1299:0.3047:0.0:0.5654	.	214	Q6UWF7	FA55D_HUMAN	P	214	ENSP00000364627:Q214P	ENSP00000364627:Q214P	Q	-	2	0	FAM55D	113958409	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	0.305000	0.19254	-0.466000	0.06943	0.482000	0.46254	CAA		0.512	NXPE4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399179.1	NM_017678		36	28	0	0	0	0	36	28				
DSCAML1	57453	broad.mit.edu	37	11	117299175	117299175	+	Missense_Mutation	SNP	G	G	A	rs370252456		TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:117299175G>A	ENST00000321322.6	-	33	6212	c.6211C>T	c.(6211-6213)Cca>Tca	p.P2071S	DSCAML1_ENST00000527706.1_Missense_Mutation_p.P1801S	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	2011					axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CCGGCTCGTGGAGGCTCGGTG	0.746																																						uc001prh.1		NA																	0				ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(6211-6213)CCA>TCA		Down syndrome cell adhesion molecule like 1		G	SER/PRO	1,3849		0,1,1924	10.0	12.0	11.0		6211	4.8	1.0	11		11	0,8102		0,0,4051	no	missense	DSCAML1	NM_020693.2	74	0,1,5975	AA,AG,GG		0.0,0.026,0.0084	benign	2071/2114	117299175	1,11951	1925	4051	5976	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117299175G>A		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.6211C>T	11.37:g.117299175G>A	ENSP00000315465:p.Pro2071Ser						p.P2071S	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	33	6213	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	2011			Cytoplasmic (Potential).|Pro-rich.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.6211C>T	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	8.998	0.979388	0.18812	2.6E-4	0.0	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.59906	0.27;0.23	4.8	4.8	0.61643	.	.	.	.	.	T	0.36248	0.0960	N	0.08118	0	0.42729	D	0.993702	B	0.17465	0.022	B	0.16722	0.016	T	0.21793	-1.0235	9	0.11485	T	0.65	.	15.3454	0.74334	0.0:0.0:1.0:0.0	.	2011	Q8TD84	DSCL1_HUMAN	S	1801;2071;1778	ENSP00000434335:P1801S;ENSP00000315465:P2071S	ENSP00000315465:P2071S	P	-	1	0	DSCAML1	116804385	1.000000	0.71417	0.995000	0.50966	0.374000	0.29953	4.819000	0.62664	2.214000	0.71695	0.313000	0.20887	CCA		0.746	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		7	6	0	0	0	0	7	6				
USP2	9099	broad.mit.edu	37	11	119229766	119229766	+	Silent	SNP	A	A	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:119229766A>T	ENST00000260187.2	-	6	1434	c.1140T>A	c.(1138-1140)ccT>ccA	p.P380P	USP2_ENST00000455332.2_Silent_p.P137P|USP2_ENST00000525735.1_Silent_p.P171P	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	380	USP.				cell cycle (GO:0007049)|muscle organ development (GO:0007517)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue development (GO:0048643)|protein deubiquitination (GO:0016579)|protein stabilization (GO:0050821)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell cortex (GO:0005938)|centrosome (GO:0005813)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cyclin binding (GO:0030332)|cysteine-type endopeptidase activity (GO:0004197)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		GGTTGGACTTAGGTCTCAGTG	0.483																																						uc001pwm.3		NA																	0				ovary(2)|urinary_tract(1)|skin(1)	4						c.(1138-1140)CCT>CCA		ubiquitin specific peptidase 2 isoform a							104.0	93.0	97.0					11																	119229766		2199	4295	6494	SO:0001819	synonymous_variant	9099				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity	g.chr11:119229766A>T	AF079564	CCDS8422.1, CCDS8423.1, CCDS58189.1	11q23.3	2008-02-05	2005-08-08			ENSG00000036672		"""Ubiquitin-specific peptidases"""	12618	protein-coding gene	gene with protein product		604725	"""ubiquitin specific protease 2"""			12838346	Standard	NM_004205		Approved	UBP41	uc001pwm.4	O75604		ENST00000260187.2:c.1140T>A	11.37:g.119229766A>T						USP2_uc001pwl.3_Silent_p.P171P|USP2_uc001pwn.3_Silent_p.P137P	p.P380P	NM_004205	NP_004196	O75604	UBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)	6	1435	-		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)	380					B0YJB8|E9PPM2|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21	Silent	SNP	ENST00000260187.2	37	c.1140T>A	CCDS8422.1																																																																																				0.483	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388361.2	NM_171997		39	15	0	0	0	0	39	15				
OPCML	4978	broad.mit.edu	37	11	132306621	132306621	+	Silent	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:132306621C>T	ENST00000331898.7	-	5	1295	c.717G>A	c.(715-717)aaG>aaA	p.K239K	OPCML_ENST00000374778.4_Silent_p.K198K|OPCML_ENST00000524381.1_Silent_p.K232K|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000541867.1_Silent_p.K239K	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	239	Ig-like C2-type 3.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TCAGGATGCCCTTCTGACCGA	0.502																																						uc001qgs.2		NA																	0				ovary(2)|skin(1)	3						c.(715-717)AAG>AAA		opioid binding protein/cell adhesion							135.0	117.0	123.0					11																	132306621		2201	4297	6498	SO:0001819	synonymous_variant	4978				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	g.chr11:132306621C>T	BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"""Immunoglobulin superfamily / I-set domain containing"""	8143	protein-coding gene	gene with protein product	"""IgLON family member 1"""	600632	"""opioid-binding protein/cell adhesion molecule-like"""			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.717G>A	11.37:g.132306621C>T						OPCML_uc001qgu.2_Silent_p.K232K|OPCML_uc010sck.1_Silent_p.K239K|OPCML_uc001qgt.2_Silent_p.K238K|OPCML_uc010scl.1_Silent_p.K198K	p.K239K	NM_002545	NP_002536	Q14982	OPCM_HUMAN		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)	5	767	-	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)	239			Ig-like C2-type 3.		B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Silent	SNP	ENST00000331898.7	37	c.717G>A	CCDS8492.1																																																																																				0.502	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393		21	21	0	0	0	0	21	21				
IGSF9B	22997	broad.mit.edu	37	11	133790844	133790844	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:133790844G>T	ENST00000321016.8	-	18	3006	c.2776C>A	c.(2776-2778)Cca>Aca	p.P926T	IGSF9B_ENST00000533871.2_Missense_Mutation_p.P926T			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	926	Pro-rich.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTGTATGCTGGTGGTGGCAGG	0.706																																						uc001qgx.3		NA																	0					0						c.(2776-2778)CCA>ACA		immunoglobulin superfamily, member 9B							46.0	56.0	53.0					11																	133790844		2065	4192	6257	SO:0001583	missense	22997					integral to membrane|plasma membrane		g.chr11:133790844G>T	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.2776C>A	11.37:g.133790844G>T	ENSP00000317980:p.Pro926Thr						p.P926T	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	18	3007	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	926			Pro-rich.|Cytoplasmic (Potential).		G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.2776C>A		.	.	.	.	.	.	.	.	.	.	G	20.5	3.999576	0.74818	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.79749	-1.02;-1.3	4.62	4.62	0.57501	.	0.000000	0.44285	D	0.000468	D	0.84325	0.5447	L	0.29908	0.895	0.51012	D	0.9999	D	0.89917	1.0	D	0.79108	0.992	D	0.86428	0.1759	10	0.66056	D	0.02	.	17.2629	0.87075	0.0:0.0:1.0:0.0	.	926	Q9UPX0	TUTLB_HUMAN	T	926;768	ENSP00000317980:P926T;ENSP00000436552:P768T	ENSP00000317980:P926T	P	-	1	0	IGSF9B	133296054	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.222000	0.95196	2.397000	0.81536	0.561000	0.74099	CCA		0.706	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		32	21	1	0	2.81e-11	3.65e-11	32	21				
IQSEC3	440073	broad.mit.edu	37	12	266858	266858	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:266858G>A	ENST00000538872.1	+	7	2559	c.2441G>A	c.(2440-2442)cGa>cAa	p.R814Q	IQSEC3_ENST00000326261.4_Missense_Mutation_p.R814Q|IQSEC3_ENST00000382841.2_Missense_Mutation_p.R511Q			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	814	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CGAAACCTTCGAGGTGAGGAG	0.587																																						uc001qhw.1		NA																	0				central_nervous_system(2)|large_intestine(1)|skin(1)	4						c.(1531-1533)CGA>CAA		IQ motif and Sec7 domain 3							145.0	114.0	125.0					12																	266858		2203	4300	6503	SO:0001583	missense	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:266858G>A	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.2441G>A	12.37:g.266858G>A	ENSP00000437554:p.Arg814Gln					IQSEC3_uc001qhu.1_Missense_Mutation_p.R511Q	p.R511Q	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	4	1538	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		814			SEC7.		A6NIF2|A6NKV9|Q8TB43	Missense_Mutation	SNP	ENST00000538872.1	37	c.1532G>A	CCDS53728.1	.	.	.	.	.	.	.	.	.	.	G	32	5.190735	0.94923	.	.	ENSG00000120645	ENST00000538872;ENST00000326261;ENST00000382841	T;T;T	0.59224	0.28;0.28;0.28	4.82	4.82	0.62117	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.104661	0.64402	D	0.000008	T	0.77280	0.4107	M	0.85099	2.735	0.80722	D	1	D;D	0.63046	0.974;0.992	P;P	0.61658	0.892;0.889	T	0.82291	-0.0530	10	0.87932	D	0	.	18.2394	0.89961	0.0:0.0:1.0:0.0	.	814;511	Q9UPP2;Q9UPP2-2	IQEC3_HUMAN;.	Q	814;814;511	ENSP00000437554:R814Q;ENSP00000315662:R814Q;ENSP00000372292:R511Q	ENSP00000315662:R814Q	R	+	2	0	IQSEC3	137119	1.000000	0.71417	0.997000	0.53966	0.674000	0.39518	9.805000	0.99149	2.387000	0.81309	0.491000	0.48974	CGA		0.587	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902		5	57	0	0	0	0	5	57				
AKAP3	10566	broad.mit.edu	37	12	4747326	4747326	+	Missense_Mutation	SNP	C	C	T	rs570803135		TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:4747326C>T	ENST00000545990.2	-	4	561	c.37G>A	c.(37-39)Gga>Aga	p.G13R	RP11-500M8.7_ENST00000536588.1_Intron|AKAP3_ENST00000228850.1_Missense_Mutation_p.G13R	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	13					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)	p.G13*(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TTGCATACTCCATTTTGGCTT	0.408																																						uc001qnb.3		NA																	2	Substitution - Nonsense(2)		kidney(2)	skin(3)|large_intestine(1)|ovary(1)|kidney(1)	6						c.(37-39)GGA>AGA		A-kinase anchor protein 3							240.0	238.0	239.0					12																	4747326		2203	4300	6503	SO:0001583	missense	10566				acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	g.chr12:4747326C>T	U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"""A-kinase anchor proteins"""	373	protein-coding gene	gene with protein product	"""Fibrous Sheath Protein of 95 kDa"", ""cancer/testis antigen 82"""	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.37G>A	12.37:g.4747326C>T	ENSP00000440994:p.Gly13Arg						p.G13R	NM_006422	NP_006413	O75969	AKAP3_HUMAN			3	266	-			13					O75945|Q86X01|Q9UM61	Missense_Mutation	SNP	ENST00000545990.2	37	c.37G>A	CCDS8531.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.795386	0.70452	.	.	ENSG00000111254	ENST00000228850;ENST00000545990;ENST00000540967;ENST00000536414	T;T;T;T	0.38077	1.16;1.16;1.16;1.16	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000005	T	0.56455	0.1986	M	0.70275	2.135	0.40591	D	0.981484	D	0.63880	0.993	P	0.59546	0.859	T	0.59794	-0.7387	10	0.87932	D	0	-15.959	16.4468	0.83936	0.0:1.0:0.0:0.0	.	13	O75969	AKAP3_HUMAN	R	13	ENSP00000228850:G13R;ENSP00000440994:G13R;ENSP00000442376:G13R;ENSP00000439382:G13R	ENSP00000228850:G13R	G	-	1	0	AKAP3	4617587	1.000000	0.71417	1.000000	0.80357	0.567000	0.35839	3.839000	0.55835	2.868000	0.98415	0.557000	0.71058	GGA		0.408	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398911.2	NM_006422		44	149	0	0	0	0	44	149				
GAPDH	2597	broad.mit.edu	37	12	6646845	6646845	+	Silent	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:6646845C>A	ENST00000229239.5	+	8	1287	c.621C>A	c.(619-621)atC>atA	p.I207I	GAPDH_ENST00000396859.1_Silent_p.I207I|RP5-940J5.9_ENST00000602946.1_RNA|GAPDH_ENST00000396858.1_Silent_p.I165I|GAPDH_ENST00000396856.1_Silent_p.I132I|GAPDH_ENST00000396861.1_Silent_p.I207I	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase	207					carbohydrate metabolic process (GO:0005975)|cellular response to interferon-gamma (GO:0071346)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of translation (GO:0017148)|neuron apoptotic process (GO:0051402)|peptidyl-cysteine S-trans-nitrosylation (GO:0035606)|protein stabilization (GO:0050821)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GAIT complex (GO:0097452)|lipid particle (GO:0005811)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|identical protein binding (GO:0042802)|microtubule binding (GO:0008017)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|peptidyl-cysteine S-nitrosylase activity (GO:0035605)			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7						AGAACATCATCCCTGCCTCTA	0.622											OREG0021628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001qop.1		NA																	0					0						c.(619-621)ATC>ATA		glyceraldehyde-3-phosphate dehydrogenase	NADH(DB00157)						27.0	28.0	28.0					12																	6646845		2202	4299	6501	SO:0001819	synonymous_variant	2597				gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization	cytosol|membrane|nucleus|perinuclear region of cytoplasm	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding	g.chr12:6646845C>A	AF261085	CCDS8549.1, CCDS58201.1	12p13.31	2012-10-02		2005-05-06	ENSG00000111640	ENSG00000111640	1.2.1.12		4141	protein-coding gene	gene with protein product		138400		GAPD		3170585	Standard	NM_002046		Approved		uc001qop.2	P04406	OTTHUMG00000137379	ENST00000229239.5:c.621C>A	12.37:g.6646845C>A			OREG0021628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	635	GAPDH_uc009zep.1_Silent_p.I165I|GAPDH_uc001qoq.1_Silent_p.I132I|GAPDH_uc001qor.1_Silent_p.I166I|GAPDH_uc001qos.1_Silent_p.I207I|GAPDH_uc001qot.1_Silent_p.I207I|GAPDH_uc001qou.1_Silent_p.I166I|GAPDH_uc001qov.1_Silent_p.I165I|GAPDH_uc001qow.1_Silent_p.I160I|GAPDH_uc001qox.1_Silent_p.I33I	p.I207I	NM_002046	NP_002037	P04406	G3P_HUMAN			8	723	+			207					E7EUT4|P00354|Q53X65	Silent	SNP	ENST00000229239.5	37	c.621C>A	CCDS8549.1																																																																																				0.622	GAPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268059.1	NM_002046		14	16	1	0	0.000308642	0.000338576	14	16				
C1R	715	broad.mit.edu	37	12	7188341	7188341	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:7188341C>A	ENST00000542285.1	-	11	1606	c.1457G>T	c.(1456-1458)cGc>cTc	p.R486L				P00736	C1R_HUMAN	complement component 1, r subcomponent	538	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GCTGACCCTGCGGATGGGGTG	0.552																																						uc010sfy.1		NA																	0					0						c.(1612-1614)CGC>CTC		complement component 1, r subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						125.0	132.0	130.0					12																	7188341		2195	4298	6493	SO:0001583	missense	715				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7188341C>A	M14058		12p13.31	2014-05-14			ENSG00000159403	ENSG00000159403	3.4.21.41	"""Complement system"""	1246	protein-coding gene	gene with protein product		613785					Standard	NM_001733		Approved		uc010sfy.2	P00736	OTTHUMG00000168149	ENST00000542285.1:c.1457G>T	12.37:g.7188341C>A	ENSP00000438615:p.Arg486Leu						p.R538L	NM_001733	NP_001724	P00736	C1R_HUMAN			10	1672	-			538			Peptidase S1.		A6NJQ8|Q68D77|Q8J012	Missense_Mutation	SNP	ENST00000542285.1	37	c.1613G>T		.	.	.	.	.	.	.	.	.	.	C	13.30	2.195208	0.38806	.	.	ENSG00000159403	ENST00000290575;ENST00000542285	D	0.88431	-2.38	5.44	4.55	0.56014	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.516357	0.19838	N	0.104915	D	0.82398	0.5028	.	.	.	0.32253	N	0.571167	B	0.06786	0.001	B	0.08055	0.003	T	0.80018	-0.1558	9	0.51188	T	0.08	.	6.4993	0.22160	0.1466:0.6972:0.0:0.1562	.	538	P00736	C1R_HUMAN	L	501;486	ENSP00000438615:R486L	ENSP00000290575:R501L	R	-	2	0	C1R	7058596	0.268000	0.24133	0.979000	0.43373	0.754000	0.42855	0.644000	0.24766	1.281000	0.44480	0.591000	0.81541	CGC		0.552	C1R-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001733		30	98	1	0	2.46e-21	3.58e-21	30	98				
BCL2L14	79370	broad.mit.edu	37	12	12232294	12232294	+	Silent	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:12232294C>T	ENST00000308721.5	+	2	261	c.55C>T	c.(55-57)Cta>Tta	p.L19L	BCL2L14_ENST00000396369.1_Silent_p.L19L|BCL2L14_ENST00000589718.1_Silent_p.L19L|BCL2L14_ENST00000586576.1_Silent_p.L52L|BCL2L14_ENST00000396367.1_Silent_p.L19L|BCL2L14_ENST00000266434.4_Silent_p.L19L	NM_138723.1	NP_620049.1	Q9BZR8	B2L14_HUMAN	BCL2-like 14 (apoptosis facilitator)	19					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular organelle (GO:0043229)|membrane (GO:0016020)	protein kinase binding (GO:0019901)			large_intestine(1)|lung(2)|skin(3)	6		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		TGATGATGACCTAAACACCAT	0.483																																						uc001rac.2		NA																	0				skin(1)	1						c.(55-57)CTA>TTA		BCL2-like 14 isoform 1							162.0	142.0	149.0					12																	12232294		2203	4300	6503	SO:0001819	synonymous_variant	79370				apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding	g.chr12:12232294C>T	AF281254	CCDS8645.1, CCDS8646.1	12p13-p12	2014-03-07			ENSG00000121380	ENSG00000121380			16657	protein-coding gene	gene with protein product		606126				11054413	Standard	NM_030766		Approved	BCLG, BCL-G	uc001rac.3	Q9BZR8	OTTHUMG00000159528	ENST00000308721.5:c.55C>T	12.37:g.12232294C>T						ETV6_uc001raa.1_Intron|BCL2L14_uc001raf.1_RNA|BCL2L14_uc001rad.2_Silent_p.L19L|BCL2L14_uc001rae.2_Silent_p.L19L	p.L19L	NM_138723	NP_620049	Q9BZR8	B2L14_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.154)	2	256	+		Prostate(47;0.0872)	19					A8KAD0|Q96QR5|Q9BZR7	Silent	SNP	ENST00000308721.5	37	c.55C>T	CCDS8645.1																																																																																				0.483	BCL2L14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355994.3	NM_030766		13	96	0	0	0	0	13	96				
SLCO1B7	338821	broad.mit.edu	37	12	21168707	21168707	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:21168707C>A	ENST00000421593.2	+	1	78	c.78C>A	c.(76-78)ttC>ttA	p.F26L	LST3_ENST00000540229.1_Intron|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	26						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						ATGGAAGCTTCGAAATAGGTA	0.308																																						uc010sin.1		NA																	0					0						c.(76-78)TTC>TTA		liver-specific organic anion transporter 3TM12							77.0	77.0	77.0					12																	21168707		2151	4286	6437	SO:0001583	missense	338821					membrane	transporter activity	g.chr12:21168707C>A	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.78C>A	12.37:g.21168707C>A	ENSP00000394168:p.Phe26Leu					SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Intron	p.F26L	NM_001009562	NP_001009562	Q71QF0	Q71QF0_HUMAN			1	78	+			26					Q71QF0	Missense_Mutation	SNP	ENST00000421593.2	37	c.78C>A	CCDS44843.1	.	.	.	.	.	.	.	.	.	.	.	12.03	1.816229	0.32145	.	.	ENSG00000205754	ENST00000421593	T	0.41758	0.99	2.68	1.5	0.22942	.	0.000000	0.85682	D	0.000000	T	0.66277	0.2773	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65602	-0.6128	10	0.87932	D	0	.	6.6038	0.22714	0.0:0.1258:0.0:0.8742	.	26	G3V0H7	.	L	26	ENSP00000394168:F26L	ENSP00000394168:F26L	F	+	3	2	SLCO1B7	21059974	1.000000	0.71417	1.000000	0.80357	0.121000	0.20230	3.276000	0.51646	0.262000	0.21774	-0.481000	0.04817	TTC		0.308	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		10	15	1	0	3.86e-05	4.34e-05	10	15				
ADAMTS20	80070	broad.mit.edu	37	12	43769237	43769237	+	Silent	SNP	A	A	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:43769237A>G	ENST00000389420.3	-	36	5390	c.5391T>C	c.(5389-5391)gcT>gcC	p.A1797A		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1797	GON. {ECO:0000255|PROSITE- ProRule:PRU00383}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CAGTGTATCCAGCAGCTAAGT	0.338																																						uc010skx.1		NA																	0				central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(5389-5391)GCT>GCC		a disintegrin-like and metalloprotease with							148.0	142.0	144.0					12																	43769237		2203	4300	6503	SO:0001819	synonymous_variant	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43769237A>G	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.5391T>C	12.37:g.43769237A>G							p.A1797A	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	36	5391	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1797			GON.		A6NNC9|J3QT00	Silent	SNP	ENST00000389420.3	37	c.5391T>C	CCDS31778.2																																																																																				0.338	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		15	57	0	0	0	0	15	57				
ADAMTS20	80070	broad.mit.edu	37	12	43846439	43846439	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:43846439G>C	ENST00000389420.3	-	13	1819	c.1820C>G	c.(1819-1821)aCt>aGt	p.T607S	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.T607S	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	607	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACATGAATCAGTATTACATGA	0.403																																						uc010skx.1		NA																	0		p.T607T(1)		central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(1819-1821)ACT>AGT		a disintegrin-like and metalloprotease with							87.0	73.0	78.0					12																	43846439		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43846439G>C	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.1820C>G	12.37:g.43846439G>C	ENSP00000374071:p.Thr607Ser						p.T607S	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	13	1820	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	607			TSP type-1 1.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.1820C>G	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210631	0.79240	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.05139	3.49;3.49	4.85	4.85	0.62838	.	0.000000	0.52532	D	0.000063	T	0.21881	0.0527	M	0.67517	2.055	0.80722	D	1	D	0.60575	0.988	D	0.63877	0.919	T	0.00641	-1.1631	10	0.30854	T	0.27	.	18.851	0.92230	0.0:0.0:1.0:0.0	.	607	P59510	ATS20_HUMAN	S	607	ENSP00000374071:T607S;ENSP00000448341:T607S	ENSP00000374068:T607S	T	-	2	0	ADAMTS20	42132706	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.420000	0.97426	2.624000	0.88883	0.563000	0.77884	ACT		0.403	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		3	20	0	0	0	0	3	20				
ADAMTS20	80070	broad.mit.edu	37	12	43847820	43847820	+	Silent	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:43847820C>T	ENST00000389420.3	-	12	1649	c.1650G>A	c.(1648-1650)acG>acA	p.T550T	ADAMTS20_ENST00000553158.1_Silent_p.T550T	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	550	Disintegrin.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GACGTGTTTCCGTTTCTTTGT	0.398																																						uc010skx.1		NA																	0		p.T550M(1)		central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(1648-1650)ACG>ACA		a disintegrin-like and metalloprotease with							119.0	97.0	104.0					12																	43847820		2203	4300	6503	SO:0001819	synonymous_variant	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43847820C>T	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.1650G>A	12.37:g.43847820C>T							p.T550T	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	12	1650	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	550			Disintegrin.		A6NNC9|J3QT00	Silent	SNP	ENST00000389420.3	37	c.1650G>A	CCDS31778.2																																																																																				0.398	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		4	34	0	0	0	0	4	34				
ADCY6	112	broad.mit.edu	37	12	49164737	49164737	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:49164737C>A	ENST00000307885.4	-	19	3762	c.3068G>T	c.(3067-3069)cGg>cTg	p.R1023L	MIR4701_ENST00000583094.1_RNA|ADCY6_ENST00000550422.1_Missense_Mutation_p.R970L|ADCY6_ENST00000357869.3_Missense_Mutation_p.R970L|ADCY6_ENST00000552090.1_5'Flank	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	1023					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)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|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)|negative regulation of neuron projection development (GO:0010977)|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)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						CTGCCGGAACCGCTCCTCGCT	0.577																																						uc001rsh.3		NA																	0					0						c.(3067-3069)CGG>CTG		adenylate cyclase 6 isoform a							82.0	68.0	73.0					12																	49164737		2203	4300	6503	SO:0001583	missense	112				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	ATP binding|metal ion binding	g.chr12:49164737C>A		CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"""Adenylate cyclases"""	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.3068G>T	12.37:g.49164737C>A	ENSP00000311405:p.Arg1023Leu					ADCY6_uc001rsj.3_Missense_Mutation_p.R1023L|ADCY6_uc001rsi.3_Missense_Mutation_p.R970L|ADCY6_uc010slw.1_3'UTR	p.R1023L	NM_015270	NP_056085	O43306	ADCY6_HUMAN			19	3728	-			1023			Cytoplasmic (Potential).		Q9NR75|Q9UDB0	Missense_Mutation	SNP	ENST00000307885.4	37	c.3068G>T	CCDS8767.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.430244	0.43122	.	.	ENSG00000174233	ENST00000357869;ENST00000550422;ENST00000307885	T;T;T	0.81163	-1.46;-1.46;-1.46	4.88	-0.672	0.11377	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.214043	0.39341	N	0.001395	T	0.71542	0.3352	L	0.58354	1.805	0.27000	N	0.964929	B;B	0.17667	0.023;0.006	B;B	0.19666	0.023;0.026	T	0.63382	-0.6650	10	0.66056	D	0.02	.	5.3555	0.16059	0.0:0.3126:0.2112:0.4762	.	970;1023	O43306-2;O43306	.;ADCY6_HUMAN	L	970;970;1023	ENSP00000350536:R970L;ENSP00000446730:R970L;ENSP00000311405:R1023L	ENSP00000311405:R1023L	R	-	2	0	ADCY6	47451004	0.000000	0.05858	0.947000	0.38551	0.973000	0.67179	0.159000	0.16442	0.036000	0.15547	-0.808000	0.03180	CGG		0.577	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	NM_020983		14	24	1	0	1.05e-09	1.33e-09	14	24				
RHEBL1	121268	broad.mit.edu	37	12	49460759	49460759	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:49460759C>T	ENST00000301068.6	-	3	423	c.184G>A	c.(184-186)Gca>Aca	p.A62T		NM_144593.1	NP_653194.1	Q8TAI7	REBL1_HUMAN	Ras homolog enriched in brain like 1	62					GTP catabolic process (GO:0006184)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|small GTPase mediated signal transduction (GO:0007264)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(2)|large_intestine(2)|lung(5)	9						ACCTGCCCTGCTGTGTCCACC	0.453																																						uc001rtc.1		NA																	0				lung(1)|breast(1)	2						c.(184-186)GCA>ACA		Ras homolog enriched in brain like 1 precursor							131.0	102.0	112.0					12																	49460759		2203	4300	6503	SO:0001583	missense	121268				positive regulation of NF-kappaB transcription factor activity|small GTPase mediated signal transduction|TOR signaling cascade	cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:49460759C>T	AK098663	CCDS8778.1	12q13.12	2014-05-09				ENSG00000167550			21166	protein-coding gene	gene with protein product						12477932	Standard	NM_144593		Approved	MGC34869, FLJ25797	uc001rtc.1	Q8TAI7	OTTHUMG00000170407	ENST00000301068.6:c.184G>A	12.37:g.49460759C>T	ENSP00000301068:p.Ala62Thr					RHEBL1_uc001rtd.1_Missense_Mutation_p.A58T|RHEBL1_uc009zlc.1_Intron	p.A62T	NM_144593	NP_653194	Q8TAI7	REBL1_HUMAN			3	391	-			62			GTP (By similarity).		Q56VH8	Missense_Mutation	SNP	ENST00000301068.6	37	c.184G>A	CCDS8778.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.675921	0.88445	.	.	ENSG00000167550	ENST00000301068;ENST00000550675	D;D	0.88741	-2.42;-2.42	4.99	4.99	0.66335	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.95149	0.8428	M	0.90198	3.095	0.58432	D	0.999996	D;D	0.76494	0.994;0.999	D;D	0.71656	0.974;0.921	D	0.95947	0.8951	10	0.87932	D	0	.	15.5848	0.76473	0.0:1.0:0.0:0.0	.	62;62	F8W1T5;Q8TAI7	.;REBL1_HUMAN	T	62	ENSP00000301068:A62T;ENSP00000447428:A62T	ENSP00000301068:A62T	A	-	1	0	RHEBL1	47747026	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.252000	0.58785	2.480000	0.83734	0.655000	0.94253	GCA		0.453	RHEBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408969.1	NM_144593		5	66	0	0	0	0	5	66				
LIMA1	51474	broad.mit.edu	37	12	50594642	50594642	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:50594642T>C	ENST00000341247.4	-	7	1039	c.890A>G	c.(889-891)gAa>gGa	p.E297G	LIMA1_ENST00000552909.1_Missense_Mutation_p.E137G|LIMA1_ENST00000394943.3_Missense_Mutation_p.E297G|LIMA1_ENST00000552783.1_Missense_Mutation_p.E137G|LIMA1_ENST00000552008.1_5'UTR|LIMA1_ENST00000547825.1_5'UTR|LIMA1_ENST00000552823.1_Missense_Mutation_p.E137G|LIMA1_ENST00000552491.1_5'Flank	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	297					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						AATTTTGATTTCGCCACCACT	0.388																																						uc001rwj.3		NA																	0				ovary(1)	1						c.(889-891)GAA>GGA		LIM domain and actin binding 1 isoform b							188.0	188.0	188.0					12																	50594642		2203	4300	6503	SO:0001583	missense	51474				actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding	g.chr12:50594642T>C	AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"""epithelial protein lost in neoplasm beta"""	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.890A>G	12.37:g.50594642T>C	ENSP00000340184:p.Glu297Gly					LIMA1_uc001rwg.3_5'UTR|LIMA1_uc001rwh.3_Missense_Mutation_p.E137G|LIMA1_uc001rwi.3_Missense_Mutation_p.E137G|LIMA1_uc001rwk.3_Missense_Mutation_p.E297G|LIMA1_uc010smr.1_RNA|LIMA1_uc010sms.1_RNA	p.E297G	NM_016357	NP_057441	Q9UHB6	LIMA1_HUMAN			7	1064	-			297					B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Missense_Mutation	SNP	ENST00000341247.4	37	c.890A>G	CCDS8802.1	.	.	.	.	.	.	.	.	.	.	T	12.63	1.995573	0.35226	.	.	ENSG00000050405	ENST00000552823;ENST00000394943;ENST00000341247;ENST00000552783;ENST00000552909;ENST00000420992	D;D;T;D;D	0.85339	-1.56;-1.97;-1.23;-1.55;-1.56	5.44	4.28	0.50868	.	0.153556	0.47093	D	0.000241	D	0.90249	0.6951	M	0.69823	2.125	0.48236	D	0.999619	D;D;B	0.89917	1.0;1.0;0.119	D;D;B	0.85130	0.997;0.996;0.067	D	0.89157	0.3527	9	.	.	.	.	9.6844	0.40089	0.1549:0.0:0.0:0.845	.	306;297;137	Q59FE8;Q9UHB6;F8VQE1	.;LIMA1_HUMAN;.	G	137;297;297;137;137;216	ENSP00000450266:E137G;ENSP00000378400:E297G;ENSP00000340184:E297G;ENSP00000448779:E137G;ENSP00000450087:E137G	.	E	-	2	0	LIMA1	48880909	1.000000	0.71417	1.000000	0.80357	0.003000	0.03518	4.255000	0.58804	1.057000	0.40506	-0.344000	0.07964	GAA		0.388	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2	NM_016357		110	123	0	0	0	0	110	123				
SCN8A	6334	broad.mit.edu	37	12	52164414	52164414	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:52164414A>G	ENST00000354534.6	+	19	3770	c.3592A>G	c.(3592-3594)Aac>Gac	p.N1198D	SCN8A_ENST00000545061.1_Missense_Mutation_p.N1198D	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1198					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	CGTGGAGCACAACTGGTTTGA	0.562																																						uc001ryw.2		NA																	0				ovary(7)	7						c.(3592-3594)AAC>GAC		sodium channel, voltage gated, type VIII, alpha	Lamotrigine(DB00555)						107.0	110.0	109.0					12																	52164414		2202	4300	6502	SO:0001583	missense	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52164414A>G	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.3592A>G	12.37:g.52164414A>G	ENSP00000346534:p.Asn1198Asp					SCN8A_uc010snl.1_Missense_Mutation_p.N1063D	p.N1198D	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	19	3770	+			1198			III.|Helical; Name=S1 of repeat III; (Potential).		B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.3592A>G	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	A	17.98	3.521184	0.64747	.	.	ENSG00000196876	ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961	D;D;D	0.83673	-1.75;-1.75;-1.75	5.17	5.17	0.71159	Sodium ion transport-associated (1);	0.000000	0.85682	D	0.000000	D	0.89329	0.6684	M	0.65677	2.01	0.80722	D	1	D;D	0.71674	0.983;0.998	P;D	0.66602	0.888;0.945	D	0.90417	0.4414	10	0.72032	D	0.01	.	15.4976	0.75666	1.0:0.0:0.0:0.0	.	1198;1198	F8VWM7;Q9UQD0	.;SCN8A_HUMAN	D	1198;1198;1198;1111	ENSP00000346534:N1198D;ENSP00000440360:N1198D;ENSP00000347255:N1198D	ENSP00000346534:N1198D	N	+	1	0	SCN8A	50450681	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.139000	0.94554	2.308000	0.77769	0.533000	0.62120	AAC		0.562	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		7	44	0	0	0	0	7	44				
RARG	5916	broad.mit.edu	37	12	53621207	53621207	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:53621207C>G	ENST00000425354.2	-	3	610	c.123G>C	c.(121-123)atG>atC	p.M41I	RARG_ENST00000543762.1_Intron|RARG_ENST00000327550.3_Intron|RARG_ENST00000394426.1_Missense_Mutation_p.M41I	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	41	Modulating.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	TAGGGCTCAGCATCTCGAAAG	0.627																																						uc001sce.2		NA																	0				breast(2)|ovary(1)|lung(1)	4						c.(121-123)ATG>ATC		retinoic acid receptor, gamma isoform 1	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)						47.0	51.0	50.0					12																	53621207		2203	4300	6503	SO:0001583	missense	5916				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:53621207C>G	M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"""Nuclear hormone receptors"""	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.123G>C	12.37:g.53621207C>G	ENSP00000388510:p.Met41Ile					RARG_uc001scf.2_Missense_Mutation_p.M41I|RARG_uc001scg.2_Intron|RARG_uc010soc.1_Intron	p.M41I	NM_000966	NP_000957	P13631	RARG_HUMAN			3	608	-			41			Modulating.		B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Missense_Mutation	SNP	ENST00000425354.2	37	c.123G>C	CCDS8850.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.422827	0.43020	.	.	ENSG00000172819	ENST00000425354;ENST00000394426	D;D	0.91068	-2.78;-2.78	4.85	4.85	0.62838	.	0.180712	0.39407	N	0.001380	T	0.80763	0.4685	N	0.08118	0	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.75811	-0.3186	10	0.39692	T	0.17	.	13.68	0.62479	0.0:1.0:0.0:0.0	.	41	P13631	RARG_HUMAN	I	41	ENSP00000388510:M41I;ENSP00000377947:M41I	ENSP00000377947:M41I	M	-	3	0	RARG	51907474	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.369000	0.44231	2.700000	0.92200	0.462000	0.41574	ATG		0.627	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109404.2	NM_000966		62	29	0	0	0	0	62	29				
ESPL1	9700	broad.mit.edu	37	12	53684657	53684657	+	Silent	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:53684657G>T	ENST00000257934.4	+	25	5488	c.5397G>T	c.(5395-5397)ctG>ctT	p.L1799L	ESPL1_ENST00000552462.1_Silent_p.L1799L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1799					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						AGTCTGTGCTGGGCTGCTGGA	0.592																																					Colon(53;1069 1201 2587 5382)	uc001sck.2		NA																	0				lung(1)|kidney(1)|skin(1)	3						c.(5395-5397)CTG>CTT		separase							28.0	28.0	28.0					12																	53684657		2203	4300	6503	SO:0001819	synonymous_variant	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53684657G>T	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.5397G>T	12.37:g.53684657G>T						ESPL1_uc001scj.2_Silent_p.L1474L	p.L1799L	NM_012291	NP_036423	Q14674	ESPL1_HUMAN			25	5488	+			1799						Silent	SNP	ENST00000257934.4	37	c.5397G>T	CCDS8852.1																																																																																				0.592	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		8	11	1	0	1.07e-07	1.29e-07	8	11				
SLC16A7	9194	broad.mit.edu	37	12	60168743	60168743	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:60168743A>G	ENST00000261187.4	+	4	831	c.667A>G	c.(667-669)Atc>Gtc	p.I223V	SLC16A7_ENST00000552024.1_Missense_Mutation_p.I223V|SLC16A7_ENST00000552432.1_Missense_Mutation_p.I223V|SLC16A7_ENST00000547379.1_Missense_Mutation_p.I223V|SLC16A7_ENST00000543448.1_Missense_Mutation_p.I124V	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	223					lactate transmembrane transport (GO:0035873)|pyruvate transmembrane transport (GO:1901475)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|pyruvate secondary active transmembrane transporter activity (GO:0005477)|pyruvate transmembrane transporter activity (GO:0050833)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)	CCCAAAGAAAATCAAAACGAA	0.363																																						uc001sqs.2		NA																	0				ovary(1)	1						c.(667-669)ATC>GTC		solute carrier family 16, member 7	Pyruvic acid(DB00119)						38.0	38.0	38.0					12																	60168743		2202	4300	6502	SO:0001583	missense	9194					integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr12:60168743A>G	AF049608	CCDS8961.1	12q14.1	2013-07-18	2013-07-18		ENSG00000118596	ENSG00000118596		"""Solute carriers"""	10928	protein-coding gene	gene with protein product		603654	"""solute carrier family 16 (monocarboxylic acid transporters), member 7"""			9786900	Standard	NM_004731		Approved	MCT2	uc001sqt.4	O60669	OTTHUMG00000169923	ENST00000261187.4:c.667A>G	12.37:g.60168743A>G	ENSP00000261187:p.Ile223Val					SLC16A7_uc001sqt.2_Missense_Mutation_p.I223V|SLC16A7_uc001squ.2_Missense_Mutation_p.I223V|SLC16A7_uc009zqi.2_Missense_Mutation_p.I124V|SLC16A7_uc010ssi.1_Missense_Mutation_p.I124V	p.I223V	NM_004731	NP_004722	O60669	MOT2_HUMAN		GBM - Glioblastoma multiforme(3;0.0303)	5	966	+			223			Cytoplasmic (Potential).		Q8NEM3|Q9UPB3	Missense_Mutation	SNP	ENST00000261187.4	37	c.667A>G	CCDS8961.1	.	.	.	.	.	.	.	.	.	.	A	1.894	-0.454816	0.04540	.	.	ENSG00000118596	ENST00000552432;ENST00000547379;ENST00000552024;ENST00000548610;ENST00000261187;ENST00000543448;ENST00000548444	T;T;T;T;T;T;T	0.58506	2.44;2.44;2.44;2.31;2.44;2.31;0.33	5.76	2.1	0.27182	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	55.924000	0.00166	N	0.000000	T	0.33556	0.0867	N	0.01874	-0.695	0.09310	N	1	B	0.16166	0.016	B	0.26614	0.071	T	0.32079	-0.9920	9	.	.	.	.	7.0262	0.24942	0.7434:0.1256:0.1309:0.0	.	223	O60669	MOT2_HUMAN	V	223;223;223;223;223;124;108	ENSP00000449547:I223V;ENSP00000448071:I223V;ENSP00000448742:I223V;ENSP00000446722:I223V;ENSP00000261187:I223V;ENSP00000443731:I124V;ENSP00000447814:I108V	.	I	+	1	0	SLC16A7	58455010	0.077000	0.21312	0.000000	0.03702	0.007000	0.05969	2.873000	0.48475	0.175000	0.19841	0.528000	0.53228	ATC		0.363	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406587.1	NM_004731		15	17	0	0	0	0	15	17				
RASSF3	283349	broad.mit.edu	37	12	65088583	65088583	+	Missense_Mutation	SNP	G	G	T	rs147804503		TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:65088583G>T	ENST00000542104.1	+	5	728	c.608G>T	c.(607-609)cGc>cTc	p.R203L	RASSF3_ENST00000336061.2_Missense_Mutation_p.R203L	NM_178169.3	NP_835463.1	Q86WH2	RASF3_HUMAN	Ras association (RalGDS/AF-6) domain family member 3	203	SARAH. {ECO:0000255|PROSITE- ProRule:PRU00310}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(2;0.00133)|LUAD - Lung adenocarcinoma(6;0.0665)|LUSC - Lung squamous cell carcinoma(43;0.132)	GBM - Glioblastoma multiforme(28;0.0611)		AATTTCTTGCGCATCTTGGAC	0.473																																						uc001ssd.2		NA																	0					0						c.(607-609)CGC>CTC		Ras association (RalGDS/AF-6) domain family							101.0	94.0	96.0					12																	65088583		2203	4300	6503	SO:0001583	missense	283349				signal transduction	cytoplasm|microtubule	identical protein binding	g.chr12:65088583G>T		CCDS8969.1	12q14.2	2008-02-22	2008-02-22		ENSG00000153179	ENSG00000153179			14271	protein-coding gene	gene with protein product		607019					Standard	NM_178169		Approved		uc001ssd.3	Q86WH2	OTTHUMG00000168812	ENST00000542104.1:c.608G>T	12.37:g.65088583G>T	ENSP00000443021:p.Arg203Leu					RASSF3_uc009zqn.2_RNA|RASSF3_uc001sse.2_Missense_Mutation_p.R133L	p.R203L	NM_178169	NP_835463	Q86WH2	RASF3_HUMAN	Lung(2;0.00133)|LUAD - Lung adenocarcinoma(6;0.0665)|LUSC - Lung squamous cell carcinoma(43;0.132)	GBM - Glioblastoma multiforme(28;0.0611)	5	728	+			203			SARAH.		Q86WH1	Missense_Mutation	SNP	ENST00000542104.1	37	c.608G>T	CCDS8969.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.714672	0.48622	.	.	ENSG00000153179	ENST00000542104;ENST00000336061;ENST00000541539	T;T	0.15603	2.41;2.41	4.66	4.66	0.58398	SARAH (1);	0.000000	0.85682	D	0.000000	T	0.27832	0.0685	M	0.71206	2.165	0.80722	D	1	P	0.47762	0.9	P	0.45538	0.484	T	0.07328	-1.0778	9	.	.	.	-7.6332	17.9322	0.89000	0.0:0.0:1.0:0.0	.	203	Q86WH2	RASF3_HUMAN	L	203;203;133	ENSP00000443021:R203L;ENSP00000336616:R203L	.	R	+	2	0	RASSF3	63374850	1.000000	0.71417	0.939000	0.37840	0.853000	0.48598	5.696000	0.68287	2.315000	0.78130	0.555000	0.69702	CGC		0.473	RASSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401161.1			39	56	1	0	2.27e-22	3.34e-22	39	56				
BEST3	144453	broad.mit.edu	37	12	70087573	70087573	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:70087573C>A	ENST00000330891.5	-	4	588	c.362G>T	c.(361-363)gGg>gTg	p.G121V	BEST3_ENST00000266661.4_Missense_Mutation_p.G15V|BEST3_ENST00000331471.4_Missense_Mutation_p.G121V|BEST3_ENST00000533674.1_5'UTR|BEST3_ENST00000393365.1_Missense_Mutation_p.G15V|BEST3_ENST00000476098.1_5'UTR|BEST3_ENST00000553096.1_Missense_Mutation_p.G15V|BEST3_ENST00000551160.1_Missense_Mutation_p.G15V	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	121					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			AAGCAGGCGCCCGTGCTCGTC	0.532																																						uc001svg.2		NA																	0					0						c.(361-363)GGG>GTG		vitelliform macular dystrophy 2-like 3 isoform							105.0	90.0	95.0					12																	70087573		2203	4300	6503	SO:0001583	missense	144453					chloride channel complex|plasma membrane	chloride channel activity	g.chr12:70087573C>A	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.362G>T	12.37:g.70087573C>A	ENSP00000332413:p.Gly121Val					BEST3_uc001svd.1_Missense_Mutation_p.G121V|BEST3_uc001sve.1_RNA|BEST3_uc010stm.1_Missense_Mutation_p.G15V|BEST3_uc001svh.2_5'UTR|BEST3_uc001svi.1_RNA	p.G121V	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		4	589	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		121			Cytoplasmic (Potential).		B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Missense_Mutation	SNP	ENST00000330891.5	37	c.362G>T	CCDS8992.2	.	.	.	.	.	.	.	.	.	.	C	23.4	4.415942	0.83449	.	.	ENSG00000127325	ENST00000331471;ENST00000330891;ENST00000553096;ENST00000552295;ENST00000266661;ENST00000551160;ENST00000393365	D;D;D;D;D;D;D	0.98585	-5.01;-5.01;-5.01;-5.01;-5.01;-5.01;-5.01	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.99089	0.9687	M	0.85197	2.74	0.80722	D	1	D;P	0.89917	1.0;0.931	D;P	0.87578	0.998;0.805	D	0.99698	1.1003	10	0.87932	D	0	-23.2989	20.2187	0.98312	0.0:1.0:0.0:0.0	.	121;121	Q8N1M1;Q8N1M1-1	BEST3_HUMAN;.	V	121;121;15;15;15;15;15	ENSP00000329064:G121V;ENSP00000332413:G121V;ENSP00000449548:G15V;ENSP00000447689:G15V;ENSP00000266661:G15V;ENSP00000449377:G15V;ENSP00000377032:G15V	ENSP00000266661:G15V	G	-	2	0	BEST3	68373840	1.000000	0.71417	0.998000	0.56505	0.881000	0.50899	7.818000	0.86416	2.780000	0.95670	0.655000	0.94253	GGG		0.532	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439		15	30	1	0	1.52e-12	2.02e-12	15	30				
TRHDE	29953	broad.mit.edu	37	12	72936127	72936127	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:72936127G>A	ENST00000261180.4	+	7	1740	c.1644G>A	c.(1642-1644)agG>agA	p.R548R		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	548					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TTTTCCAGAGGGGTTTGCAAG	0.308																																						uc001sxa.2		NA																	0				ovary(2)|skin(1)	3						c.(1642-1644)AGG>AGA		thyrotropin-releasing hormone degrading enzyme							107.0	105.0	106.0					12																	72936127		2203	4299	6502	SO:0001819	synonymous_variant	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72936127G>A	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.1644G>A	12.37:g.72936127G>A							p.R548R	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN			7	1674	+			548			Extracellular (Potential).		A5PL19|Q6UWJ4	Silent	SNP	ENST00000261180.4	37	c.1644G>A	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	G	8.843	0.942790	0.18281	.	.	ENSG00000072657	ENST00000547300	.	.	.	5.25	-1.51	0.08664	.	.	.	.	.	T	0.50292	0.1607	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40289	-0.9571	4	.	.	.	.	5.799	0.18403	0.3459:0.2259:0.4282:0.0	.	.	.	.	R	136	.	.	G	+	1	0	TRHDE	71222394	1.000000	0.71417	0.993000	0.49108	0.955000	0.61496	1.860000	0.39428	-0.227000	0.09884	-0.304000	0.09214	GGG		0.308	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		16	20	0	0	0	0	16	20				
NAV3	89795	broad.mit.edu	37	12	78400833	78400833	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:78400833G>A	ENST00000397909.2	+	8	1688	c.1515G>A	c.(1513-1515)ttG>ttA	p.L505L	NAV3_ENST00000228327.6_Silent_p.L505L|NAV3_ENST00000266692.7_Silent_p.L505L|NAV3_ENST00000536525.2_Silent_p.L505L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	505						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TTGCAAGCTTGATCCCTAAGG	0.428										HNSCC(70;0.22)																												uc001syp.2		NA																	0				large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(1513-1515)TTG>TTA		neuron navigator 3							74.0	74.0	74.0					12																	78400833		1909	4120	6029	SO:0001819	synonymous_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78400833G>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1515G>A	12.37:g.78400833G>A		HNSCC(70;0.22)				NAV3_uc001syo.2_Silent_p.L505L	p.L505L	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			8	1688	+			505					Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37	c.1515G>A																																																																																					0.428	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		35	29	0	0	0	0	35	29				
NAV3	89795	broad.mit.edu	37	12	78553062	78553062	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:78553062A>C	ENST00000397909.2	+	23	5038	c.4865A>C	c.(4864-4866)cAa>cCa	p.Q1622P	NAV3_ENST00000228327.6_Missense_Mutation_p.Q1622P|NAV3_ENST00000266692.7_Missense_Mutation_p.Q1445P|NAV3_ENST00000536525.2_Missense_Mutation_p.Q1622P			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1622						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACAGCGGAACAAAAGGTATGT	0.388										HNSCC(70;0.22)																												uc001syp.2		NA																	0				large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(4864-4866)CAA>CCA		neuron navigator 3							100.0	93.0	95.0					12																	78553062		1868	4102	5970	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78553062A>C	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.4865A>C	12.37:g.78553062A>C	ENSP00000381007:p.Gln1622Pro	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.Q1622P|NAV3_uc010sub.1_Missense_Mutation_p.Q1108P|NAV3_uc009zsf.2_Missense_Mutation_p.Q453P	p.Q1622P	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			23	5038	+			1622			Potential.		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.4865A>C		.	.	.	.	.	.	.	.	.	.	A	20.5	4.007832	0.75046	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788	D;D;D;D;D	0.94232	-3.38;-3.38;-3.38;-3.38;-3.38	5.44	5.44	0.79542	.	0.000000	0.38720	U	0.001586	D	0.96197	0.8760	M	0.73217	2.22	0.80722	D	1	D;D;P;D	0.71674	0.961;0.994;0.952;0.998	P;D;P;D	0.78314	0.775;0.986;0.451;0.991	D	0.96634	0.9469	10	0.72032	D	0.01	-13.3162	15.7892	0.78338	1.0:0.0:0.0:0.0	.	1622;1445;1622;1622	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.;.;NAV3_HUMAN;.	P	1622;1622;1622;1445;243;251	ENSP00000446132:Q1622P;ENSP00000381007:Q1622P;ENSP00000228327:Q1622P;ENSP00000266692:Q1445P;ENSP00000448303:Q251P	ENSP00000228327:Q1622P	Q	+	2	0	NAV3	77077193	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.574000	0.90763	2.186000	0.69663	0.533000	0.62120	CAA		0.388	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		13	42	0	0	0	0	13	42				
PPFIA2	8499	broad.mit.edu	37	12	82147793	82147793	+	Silent	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:82147793G>T	ENST00000549396.1	-	3	368	c.208C>A	c.(208-210)Cga>Aga	p.R70R	PPFIA2_ENST00000333447.7_Silent_p.R70R|PPFIA2_ENST00000550584.2_Silent_p.R70R|PPFIA2_ENST00000552948.1_Silent_p.R70R|PPFIA2_ENST00000549325.1_Silent_p.R70R|PPFIA2_ENST00000548586.1_Silent_p.R70R	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	70					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						AGTGAGTCTCGGTCATAGATG	0.468																																						uc001szo.1		NA																	0				ovary(3)|lung(2)|pancreas(1)	6						c.(208-210)CGA>AGA		PTPRF interacting protein alpha 2							53.0	57.0	56.0					12																	82147793		1968	4140	6108	SO:0001819	synonymous_variant	8499							g.chr12:82147793G>T	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.208C>A	12.37:g.82147793G>T						PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA	p.R70R	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN			3	369	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Silent	SNP	ENST00000549396.1	37	c.208C>A	CCDS55857.1																																																																																				0.468	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			6	20	1	0	2.01e-06	2.35e-06	6	20				
ALX1	8092	broad.mit.edu	37	12	85677506	85677506	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:85677506C>T	ENST00000316824.3	+	2	538	c.383C>T	c.(382-384)tCc>tTc	p.S128F		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	128					anterior/posterior pattern specification (GO:0009952)|brain development (GO:0007420)|cartilage condensation (GO:0001502)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|mesenchymal cell development (GO:0014031)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 corepressor activity (GO:0003714)	p.S128C(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		AGCAATGTATCCAGCAGTAAG	0.478																																						uc001tae.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(382-384)TCC>TTC		cartilage paired-class homeoprotein 1							132.0	126.0	128.0					12																	85677506		2203	4300	6503	SO:0001583	missense	8092				brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:85677506C>T	U31986	CCDS9028.1	12q21.31	2011-06-20	2007-07-26	2007-07-26		ENSG00000180318		"""Homeoboxes / PRD class"""	1494	protein-coding gene	gene with protein product		601527	"""cartilage paired-class homeoprotein 1"""	CART1		8756334, 7592751	Standard	NM_006982		Approved		uc001tae.4	Q15699	OTTHUMG00000169820	ENST00000316824.3:c.383C>T	12.37:g.85677506C>T	ENSP00000315417:p.Ser128Phe						p.S128F	NM_006982	NP_008913	Q15699	ALX1_HUMAN		GBM - Glioblastoma multiforme(134;0.134)	2	387	+			128					Q546C8|Q96FH4	Missense_Mutation	SNP	ENST00000316824.3	37	c.383C>T	CCDS9028.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.641560	0.87859	.	.	ENSG00000180318	ENST00000316824	D	0.95588	-3.75	5.58	5.58	0.84498	Homeodomain-related (1);Homeodomain-like (1);	0.050552	0.85682	D	0.000000	D	0.95101	0.8413	N	0.24115	0.695	0.80722	D	1	D	0.61697	0.99	P	0.57679	0.825	D	0.95423	0.8509	10	0.59425	D	0.04	.	20.0008	0.97408	0.0:1.0:0.0:0.0	.	128	Q15699	ALX1_HUMAN	F	128	ENSP00000315417:S128F	ENSP00000315417:S128F	S	+	2	0	ALX1	84201637	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.528000	0.67129	2.796000	0.96246	0.644000	0.83932	TCC		0.478	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406072.1	NM_006982		41	38	0	0	0	0	41	38				
C12orf50	160419	broad.mit.edu	37	12	88381702	88381702	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:88381702G>A	ENST00000298699.2	-	9	922	c.742C>T	c.(742-744)Cga>Tga	p.R248*	C12orf50_ENST00000550553.1_Intron	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	248										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						GGTACTAGTCGGGTAGTTAGG	0.343																																						uc001tam.1		NA																	0				skin(2)|ovary(1)	3						c.(742-744)CGA>TGA		hypothetical protein LOC160419							163.0	144.0	150.0					12																	88381702		2203	4300	6503	SO:0001587	stop_gained	160419							g.chr12:88381702G>A	AK093140	CCDS9031.1	12q21.32	2006-02-03				ENSG00000165805			26665	protein-coding gene	gene with protein product						12477932	Standard	NM_152589		Approved	FLJ35821	uc001tam.1	Q8NA57	OTTHUMG00000169869	ENST00000298699.2:c.742C>T	12.37:g.88381702G>A	ENSP00000298699:p.Arg248*					C12orf50_uc001tan.2_Intron	p.R248*	NM_152589	NP_689802	Q8NA57	CL050_HUMAN			9	910	-			248					Q6P674	Nonsense_Mutation	SNP	ENST00000298699.2	37	c.742C>T	CCDS9031.1	.	.	.	.	.	.	.	.	.	.	G	36	5.877342	0.97055	.	.	ENSG00000165805	ENST00000298699	.	.	.	5.76	1.34	0.21922	.	0.114561	0.38720	N	0.001581	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.0346	0.06117	0.0907:0.2741:0.4291:0.2061	.	.	.	.	X	248	.	ENSP00000298699:R248X	R	-	1	2	C12orf50	86905833	0.997000	0.39634	1.000000	0.80357	0.934000	0.57294	0.834000	0.27518	0.327000	0.23409	-0.143000	0.13931	CGA		0.343	C12orf50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406328.1	NM_152589		23	31	0	0	0	0	23	31				
STAB2	55576	broad.mit.edu	37	12	104152959	104152959	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:104152959T>C	ENST00000388887.2	+	65	7360	c.7156T>C	c.(7156-7158)Ttt>Ctt	p.F2386L	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TGTCAGCATGTTTTTCTACAA	0.507																																						uc001tjw.2		NA																	0				ovary(9)|skin(5)	14						c.(7156-7158)TTT>CTT		stabilin 2 precursor							161.0	135.0	144.0					12																	104152959		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104152959T>C	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.7156T>C	12.37:g.104152959T>C	ENSP00000373539:p.Phe2386Leu					STAB2_uc009zug.2_RNA	p.F2386L	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			65	7342	+			2386			Extracellular (Potential).|FAS1 7.			Missense_Mutation	SNP	ENST00000388887.2	37	c.7156T>C	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	T	0.013	-1.612462	0.00835	.	.	ENSG00000136011	ENST00000388887	D	0.90069	-2.61	4.77	-6.52	0.01872	FAS1 domain (4);	0.893968	0.09624	N	0.777253	T	0.70090	0.3184	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.64028	-0.6503	10	0.02654	T	1	.	1.9946	0.03454	0.351:0.0745:0.3115:0.263	.	2386	Q8WWQ8	STAB2_HUMAN	L	2386	ENSP00000373539:F2386L	ENSP00000373539:F2386L	F	+	1	0	STAB2	102677089	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.479000	0.06567	-1.310000	0.02312	-1.236000	0.01555	TTT		0.507	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			58	51	0	0	0	0	58	51				
ACACB	32	broad.mit.edu	37	12	109684049	109684049	+	Silent	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:109684049C>A	ENST00000338432.7	+	39	5486	c.5367C>A	c.(5365-5367)atC>atA	p.I1789I	ACACB_ENST00000377854.5_Silent_p.I1719I|ACACB_ENST00000377848.3_Silent_p.I1789I|ACACB_ENST00000543201.1_Silent_p.I455I			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1789					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GGGATGTGATCGTCATCGGCA	0.552																																						uc001tob.2		NA																	0				ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(5365-5367)ATC>ATA		acetyl-Coenzyme A carboxylase beta	Biotin(DB00121)						96.0	97.0	97.0					12																	109684049		2203	4300	6503	SO:0001819	synonymous_variant	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109684049C>A	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.5367C>A	12.37:g.109684049C>A						ACACB_uc001toc.2_Silent_p.I1789I|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Silent_p.I455I	p.I1789I	NM_001093	NP_001084	O00763	ACACB_HUMAN			39	5486	+			1789					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	ENST00000338432.7	37	c.5367C>A	CCDS31898.1																																																																																				0.552	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		39	33	1	0	1.57e-19	2.26e-19	39	33				
ATXN2	6311	broad.mit.edu	37	12	111923529	111923529	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:111923529G>A	ENST00000377617.3	-	17	3086	c.2925C>T	c.(2923-2925)agC>agT	p.S975S	AC002395.1_ENST00000581907.1_RNA|ATXN2_ENST00000542287.2_Silent_p.S710S|ATXN2_ENST00000535949.1_Silent_p.S686S|ATXN2_ENST00000608853.1_Silent_p.S815S|ATXN2_ENST00000389153.4_Silent_p.S710S|ATXN2_ENST00000550104.1_Silent_p.S975S	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	975	Pro-rich.				cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						GCACGCCTGGGCTCACTGGGA	0.453																																						uc001tsj.2		NA																	0				ovary(1)|breast(1)	2						c.(2923-2925)AGC>AGT		ataxin 2							177.0	153.0	161.0					12																	111923529		2203	4300	6503	SO:0001819	synonymous_variant	6311				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding	g.chr12:111923529G>A	U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"""Ataxins"""	10555	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 13"""	601517	"""spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"""	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.2925C>T	12.37:g.111923529G>A						ATXN2_uc001tsh.2_Silent_p.S710S|ATXN2_uc001tsi.2_Silent_p.S686S|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsg.2_Silent_p.S161S	p.S975S	NM_002973	NP_002964	Q99700	ATX2_HUMAN			17	3087	-			975			Pro-rich.		A6NLD4|Q6ZQZ7|Q99493	Silent	SNP	ENST00000377617.3	37	c.2925C>T	CCDS31902.1																																																																																				0.453	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973		16	56	0	0	0	0	16	56				
NOS1	4842	broad.mit.edu	37	12	117685212	117685212	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:117685212C>T	ENST00000338101.4	-	18	2870	c.2866G>A	c.(2866-2868)Ggg>Agg	p.G956R	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Missense_Mutation_p.G922R			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		AGCTCATCCCCTTCCCTCATC	0.552																																					Esophageal Squamous(162;1748 2599 51982 52956)	uc001twm.1		NA																	0				ovary(3)|skin(3)|pancreas(1)	7						c.(2764-2766)GGG>AGG		nitric oxide synthase 1, neuronal	L-Citrulline(DB00155)						109.0	112.0	111.0					12																	117685212		1985	4163	6148	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117685212C>T		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.2866G>A	12.37:g.117685212C>T	ENSP00000337459:p.Gly956Arg						p.G922R	NM_000620	NP_000611	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	18	3450	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		922			Flavodoxin-like.			Missense_Mutation	SNP	ENST00000338101.4	37	c.2764G>A	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.836707	0.91117	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.78246	-1.16;-1.16	4.62	4.62	0.57501	Flavodoxin/nitric oxide synthase (2);	0.000000	0.85682	D	0.000000	D	0.91412	0.7290	H	0.94847	3.59	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93938	0.7220	10	0.87932	D	0	-21.2239	17.6803	0.88241	0.0:1.0:0.0:0.0	.	922	P29475	NOS1_HUMAN	R	817;922;922;956	ENSP00000320758:G922R;ENSP00000337459:G956R	ENSP00000320758:G922R	G	-	1	0	NOS1	116169595	1.000000	0.71417	0.750000	0.31169	0.871000	0.50021	7.651000	0.83577	2.408000	0.81797	0.655000	0.94253	GGG		0.552	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			54	61	0	0	0	0	54	61				
CIT	11113	broad.mit.edu	37	12	120173008	120173008	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:120173008C>A	ENST00000261833.7	-	24	3039	c.2987G>T	c.(2986-2988)cGg>cTg	p.R996L	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Missense_Mutation_p.R1038L	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	996					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CGTGATCTCCCGGCGGAGATG	0.498																																						uc001txi.1		NA																	0				ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10						c.(2986-2988)CGG>CTG		citron							182.0	156.0	165.0					12																	120173008		2203	4300	6503	SO:0001583	missense	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120173008C>A	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.2987G>T	12.37:g.120173008C>A	ENSP00000261833:p.Arg996Leu					CIT_uc001txh.1_Missense_Mutation_p.R530L|CIT_uc001txj.1_Missense_Mutation_p.R1038L	p.R996L	NM_007174	NP_009105	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	24	3040	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	996			Potential.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	c.2987G>T	CCDS9192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.589405|5.589405	0.96590|0.96590	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392520;ENST00000546026|ENST00000392521;ENST00000261833	.|T;T	.|0.66099	.|-0.14;-0.19	5.23|5.23	5.23|5.23	0.72850|0.72850	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.70351|0.70351	0.3214|0.3214	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|D;D;B	.|0.69078	.|0.997;0.993;0.451	.|P;D;B	.|0.74023	.|0.866;0.982;0.119	T|T	0.74074|0.74074	-0.3782|-0.3782	5|10	.|0.72032	.|D	.|0.01	.|.	19.1641|19.1641	0.93546|0.93546	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1038;996;529	.|Q2M5E1;O14578;O14578-3	.|.;CTRO_HUMAN;.	W|L	624;22|1038;996	.|ENSP00000376306:R1038L;ENSP00000261833:R996L	.|ENSP00000261833:R996L	G|R	-|-	1|2	0|0	CIT|CIT	118657391|118657391	1.000000|1.000000	0.71417|0.71417	0.963000|0.963000	0.40424|0.40424	0.976000|0.976000	0.68499|0.68499	6.032000|6.032000	0.70918|0.70918	2.587000|2.587000	0.87381|0.87381	0.655000|0.655000	0.94253|0.94253	GGG|CGG		0.498	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		31	88	1	0	4.32e-19	6.17e-19	31	88				
PXN	5829	broad.mit.edu	37	12	120652757	120652757	+	Silent	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:120652757G>T	ENST00000228307.7	-	9	1290	c.1149C>A	c.(1147-1149)gtC>gtA	p.V383V	PXN-AS1_ENST00000535200.1_RNA|PXN_ENST00000267257.7_Silent_p.V397V|PXN_ENST00000536957.1_Silent_p.V381V|PXN_ENST00000458477.2_Silent_p.V216V|PXN_ENST00000424649.2_Silent_p.V349V|PXN_ENST00000538144.1_5'UTR|PXN-AS1_ENST00000542265.1_RNA|PXN_ENST00000397506.3_Silent_p.V195V	NM_001080855.2	NP_001074324.1	P49023	PAXI_HUMAN	paxillin	383	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				activation of MAPK activity (GO:0000187)|branching morphogenesis of an epithelial tube (GO:0048754)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|growth hormone receptor signaling pathway (GO:0060396)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|muscle contraction (GO:0006936)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of cell shape (GO:0008360)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	beta-catenin binding (GO:0008013)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGTGGGTGCAGACGAAGTGCT	0.632																																						uc001txt.2		NA																	0				ovary(1)|breast(1)	2						c.(1147-1149)GTC>GTA		paxillin isoform 1							92.0	102.0	99.0					12																	120652757		2090	4209	6299	SO:0001819	synonymous_variant	5829				cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding	g.chr12:120652757G>T	U14588	CCDS44996.1, CCDS44997.1, CCDS44998.1, CCDS58281.1	12q24	2006-01-23			ENSG00000089159	ENSG00000089159			9718	protein-coding gene	gene with protein product		602505				7534286	Standard	NM_001080855		Approved		uc001txv.3	P49023	OTTHUMG00000169169	ENST00000228307.7:c.1149C>A	12.37:g.120652757G>T						PXN_uc001txu.2_Silent_p.V195V|PXN_uc001txv.2_Silent_p.V264V|PXN_uc001txx.2_Silent_p.V216V|PXN_uc001txy.2_Silent_p.V349V|PXN_uc001txz.2_RNA	p.V383V	NM_001080855	NP_001074324	P49023	PAXI_HUMAN			9	1280	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		383			LIM zinc-binding 1.		B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4	Silent	SNP	ENST00000228307.7	37	c.1149C>A	CCDS44997.1	.	.	.	.	.	.	.	.	.	.	G	10.13	1.264419	0.23136	.	.	ENSG00000089159	ENST00000550795	.	.	.	5.18	3.26	0.37387	.	.	.	.	.	T	0.59810	0.2221	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54153	-0.8336	4	.	.	.	.	10.2275	0.43233	0.0:0.2886:0.5708:0.1406	.	.	.	.	Y	132	.	.	S	-	2	0	PXN	119137140	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	0.569000	0.23638	0.514000	0.28300	0.551000	0.68910	TCT		0.632	PXN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402679.4	NM_002859		4	23	1	0	0.00024832	0.000274217	4	23				
PITPNM2	57605	broad.mit.edu	37	12	123485364	123485364	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:123485364G>A	ENST00000542749.1	-	8	1248	c.1185C>T	c.(1183-1185)ttC>ttT	p.F395F	PITPNM2_ENST00000392428.1_Silent_p.F116F|PITPNM2_ENST00000280562.5_Silent_p.F395F|PITPNM2_ENST00000546049.1_Silent_p.F433F|PITPNM2_ENST00000320201.4_Silent_p.F395F|PITPNM2_ENST00000451868.2_5'UTR			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	395					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		AGGCCACCCTGAACTCAGGGG	0.652																																						uc001uej.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1183-1185)TTC>TTT		phosphatidylinositol transfer protein,							55.0	50.0	52.0					12																	123485364		2203	4300	6503	SO:0001819	synonymous_variant	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123485364G>A	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.1185C>T	12.37:g.123485364G>A						PITPNM2_uc001uek.1_Silent_p.F395F|PITPNM2_uc009zxu.1_Silent_p.F395F	p.F395F	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	9	1324	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		395					Q9P271	Silent	SNP	ENST00000542749.1	37	c.1185C>T	CCDS9242.1																																																																																				0.652	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		4	26	0	0	0	0	4	26				
GTF2H3	2967	broad.mit.edu	37	12	124144433	124144433	+	Missense_Mutation	SNP	G	G	A	rs571119521		TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:124144433G>A	ENST00000543341.2	+	11	807	c.776G>A	c.(775-777)cGa>cAa	p.R259Q	GTF2H3_ENST00000228955.7_Missense_Mutation_p.R218Q	NM_001271867.1|NM_001516.3	NP_001258796.1|NP_001507.2	Q13889	TF2H3_HUMAN	general transcription factor IIH, polypeptide 3, 34kDa	259					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|translation (GO:0006412)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)		TTCTGTCATCGAAATCTCATT	0.413								Nucleotide excision repair (NER)					G|||	1	0.000199681	0.0	0.0	5008	,	,		17572	0.001		0.0	False		,,,				2504	0.0				Melanoma(176;111 2022 3038 14733 36962)	uc001ufo.1		NA																	0					0						c.(775-777)CGA>CAA	NER	general transcription factor IIH, polypeptide 3,							149.0	138.0	142.0					12																	124144433		2203	4300	6503	SO:0001583	missense	2967				mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	core TFIIH complex|holo TFIIH complex	damaged DNA binding|metal ion binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|translation factor activity, nucleic acid binding	g.chr12:124144433G>A	Z30093	CCDS9252.1, CCDS61275.1, CCDS73544.1	12q24.31	2012-11-05	2002-08-29		ENSG00000111358	ENSG00000111358		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4657	protein-coding gene	gene with protein product		601750	"""general transcription factor IIH, polypeptide 3 (34kD subunit)"""			8194529	Standard	NM_001516		Approved	BTF2, TFIIH, P34	uc001ufo.2	Q13889	OTTHUMG00000168697	ENST00000543341.2:c.776G>A	12.37:g.124144433G>A	ENSP00000445162:p.Arg259Gln					GTF2H3_uc010tau.1_Missense_Mutation_p.R218Q	p.R259Q	NM_001516	NP_001507	Q13889	TF2H3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)	11	802	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		259					B2R819|B4DNZ6|Q7L0G0|Q96AT7	Missense_Mutation	SNP	ENST00000543341.2	37	c.776G>A	CCDS9252.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.895543	0.91962	.	.	ENSG00000111358	ENST00000228955;ENST00000543341;ENST00000536375;ENST00000542231;ENST00000543154	.	.	.	5.8	4.91	0.64330	.	0.127044	0.56097	D	0.000040	T	0.79839	0.4515	M	0.83953	2.67	0.54753	D	0.999988	D	0.89917	1.0	D	0.87578	0.998	T	0.82957	-0.0199	9	0.87932	D	0	.	13.1553	0.59514	0.0736:0.0:0.9264:0.0	.	259	Q13889	TF2H3_HUMAN	Q	218;259;216;209;145	.	ENSP00000228955:R218Q	R	+	2	0	GTF2H3	122710386	1.000000	0.71417	0.445000	0.26908	0.998000	0.95712	9.748000	0.98867	1.478000	0.48253	0.650000	0.86243	CGA		0.413	GTF2H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400641.2	NM_001516		16	68	0	0	0	0	16	68				
TCTN2	79867	broad.mit.edu	37	12	124191294	124191294	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:124191294G>T	ENST00000303372.5	+	16	1919	c.1791G>T	c.(1789-1791)caG>caT	p.Q597H	RP11-338K17.8_ENST00000538837.1_lincRNA|TCTN2_ENST00000426174.2_Missense_Mutation_p.Q596H	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	597					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		TGAACTGGCAGTACCAGTGTG	0.502																																						uc001ufp.2		NA																	0				ovary(1)	1						c.(1789-1791)CAG>CAT		tectonic family member 2 isoform 1							157.0	129.0	138.0					12																	124191294		2203	4300	6503	SO:0001583	missense	79867				cilium assembly|smoothened signaling pathway	integral to membrane		g.chr12:124191294G>T	AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"""Tectonic proteins"""	25774	protein-coding gene	gene with protein product	"""Meckel syndrome, type 8"""	613846	"""chromosome 12 open reading frame 38"""	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.1791G>T	12.37:g.124191294G>T	ENSP00000304941:p.Gln597His					TCTN2_uc009zya.2_Missense_Mutation_p.Q596H	p.Q597H	NM_024809	NP_079085	Q96GX1	TECT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)	16	1919	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		597			Extracellular (Potential).		A8K7Y8|B3KPW5|Q9H966	Missense_Mutation	SNP	ENST00000303372.5	37	c.1791G>T	CCDS9253.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.784418	0.49997	.	.	ENSG00000168778	ENST00000426174;ENST00000303372	D;D	0.84223	-1.82;-1.8	5.21	3.36	0.38483	.	0.167239	0.40385	N	0.001118	D	0.88727	0.6515	M	0.73598	2.24	0.29415	N	0.860938	D;D	0.69078	0.997;0.997	P;P	0.59825	0.864;0.864	D	0.83877	0.0277	10	0.62326	D	0.03	-11.7364	8.1051	0.30881	0.2474:0.0:0.7526:0.0	.	596;597	A8K7Y8;Q96GX1	.;TECT2_HUMAN	H	596;597	ENSP00000395171:Q596H;ENSP00000304941:Q597H	ENSP00000304941:Q597H	Q	+	3	2	TCTN2	122757247	1.000000	0.71417	1.000000	0.80357	0.636000	0.38137	0.951000	0.29135	1.331000	0.45412	-0.236000	0.12185	CAG		0.502	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400652.1	NM_024809		39	61	1	0	2.27e-22	3.34e-22	39	61				
RIMBP2	23504	broad.mit.edu	37	12	130926460	130926460	+	Silent	SNP	C	C	A	rs528428287		TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:130926460C>A	ENST00000261655.4	-	8	1549	c.1386G>T	c.(1384-1386)ccG>ccT	p.P462P	RIMBP2_ENST00000536002.1_Silent_p.P370P|RIMBP2_ENST00000535703.1_Silent_p.P370P	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	462	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GGAGCTGCCACGGCATCTGGT	0.587																																						uc001uil.2		NA																	0				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11						c.(1384-1386)CCG>CCT		RIM-binding protein 2							58.0	54.0	55.0					12																	130926460		2203	4300	6503	SO:0001819	synonymous_variant	23504					cell junction|synapse		g.chr12:130926460C>A	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1386G>T	12.37:g.130926460C>A						RIMBP2_uc001uim.2_Silent_p.P370P|RIMBP2_uc001uin.1_Silent_p.P121P	p.P462P	NM_015347	NP_056162	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	8	1550	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	462			Fibronectin type-III 2.		Q96ID2	Silent	SNP	ENST00000261655.4	37	c.1386G>T	CCDS31925.1																																																																																				0.587	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		22	32	1	0	2.4e-15	3.29e-15	22	32				
EP400	57634	broad.mit.edu	37	12	132510276	132510276	+	Silent	SNP	G	G	T	rs79827647		TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:132510276G>T	ENST00000333577.4	+	26	5158	c.5049G>T	c.(5047-5049)gcG>gcT	p.A1683A	EP400_ENST00000389561.2_Silent_p.A1647A|EP400_ENST00000330386.6_Silent_p.A1566A|EP400_ENST00000332482.4_Silent_p.A1610A|EP400_ENST00000389562.2_Silent_p.A1646A			Q96L91	EP400_HUMAN	E1A binding protein p400	1683					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TGTCTCAGGCGGGCGCTGTGC	0.692																																						uc001ujn.2		NA																	0				central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12						c.(4939-4941)GCG>GCT		E1A binding protein p400							33.0	31.0	32.0					12																	132510276		2202	4299	6501	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132510276G>T	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.5049G>T	12.37:g.132510276G>T						EP400_uc001ujl.2_Silent_p.A1646A|EP400_uc001ujm.2_Silent_p.A1566A	p.A1647A	NM_015409	NP_056224	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	24	4976	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	1683					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.4941G>T																																																																																					0.692	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		5	24	1	0	1.24e-05	1.41e-05	5	24				
CHFR	55743	broad.mit.edu	37	12	133433063	133433063	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:133433063G>C	ENST00000432561.2	-	10	1329	c.1256C>G	c.(1255-1257)tCa>tGa	p.S419*	CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000537522.1_Nonsense_Mutation_p.S41*|CHFR_ENST00000450056.2_Nonsense_Mutation_p.S407*|CHFR_ENST00000443047.2_Nonsense_Mutation_p.S327*|CHFR_ENST00000266880.7_Nonsense_Mutation_p.S419*|CHFR_ENST00000315585.7_Nonsense_Mutation_p.S378*			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	419					mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|modification-dependent protein catabolic process (GO:0019941)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)|PML body (GO:0016605)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		CCTAATGTCTGAGGACTCACT	0.537																																						uc001ulf.2		NA																	0				skin(1)	1						c.(1255-1257)TCA>TGA		checkpoint with forkhead and ring finger domains							155.0	146.0	149.0					12																	133433063		2203	4300	6503	SO:0001587	stop_gained	55743				cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:133433063G>C	AK001658	CCDS31937.1, CCDS53847.1, CCDS53848.1, CCDS53849.1	12q24.33	2012-02-23	2012-02-23			ENSG00000072609		"""RING-type (C3HC4) zinc fingers"""	20455	protein-coding gene	gene with protein product		605209	"""checkpoint with forkhead and ring finger domains"""			10935642, 11807090	Standard	NM_001161344		Approved	FLJ10796, RNF196	uc001ulf.2	Q96EP1		ENST00000432561.2:c.1256C>G	12.37:g.133433063G>C	ENSP00000392395:p.Ser419*					CHFR_uc001ulc.1_RNA|CHFR_uc001ule.2_Nonsense_Mutation_p.S407*|CHFR_uc010tbs.1_Nonsense_Mutation_p.S419*|CHFR_uc001uld.2_Nonsense_Mutation_p.S378*|CHFR_uc010tbt.1_Nonsense_Mutation_p.S327*	p.S419*	NM_001161344	NP_001154816	Q96EP1	CHFR_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)	10	1340	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)	419					A6NEN5|B4DZ77|B4E2L6|Q96SL3|Q9NRT4|Q9NT32|Q9NVD5	Nonsense_Mutation	SNP	ENST00000432561.2	37	c.1256C>G	CCDS53849.1	.	.	.	.	.	.	.	.	.	.	G	37	6.001389	0.97189	.	.	ENSG00000072609	ENST00000315585;ENST00000443047;ENST00000450056;ENST00000266880;ENST00000537522;ENST00000541228;ENST00000432561	.	.	.	5.63	4.75	0.60458	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-16.5475	14.509	0.67772	0.0704:0.0:0.9296:0.0	.	.	.	.	X	378;327;407;419;41;219;419	.	ENSP00000266880:S419X	S	-	2	0	CHFR	131943136	1.000000	0.71417	0.309000	0.25155	0.718000	0.41266	9.229000	0.95273	1.393000	0.46605	0.655000	0.94253	TCA		0.537	CHFR-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397130.2			31	108	0	0	0	0	31	108				
FREM2	341640	broad.mit.edu	37	13	39262131	39262131	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr13:39262131G>T	ENST00000280481.7	+	1	866	c.650G>T	c.(649-651)cGc>cTc	p.R217L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	217					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GAGGAGTGCCGCGTGGGCATC	0.682																																						uc001uwv.2		NA																	0				ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11						c.(649-651)CGC>CTC		FRAS1-related extracellular matrix protein 2							27.0	30.0	29.0					13																	39262131		2202	4300	6502	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39262131G>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.650G>T	13.37:g.39262131G>T	ENSP00000280481:p.Arg217Leu						p.R217L	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	959	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	217			Extracellular (Potential).		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.650G>T	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.215477	0.58452	.	.	ENSG00000150893	ENST00000280481	T	0.19532	2.14	5.56	5.56	0.83823	.	0.057220	0.64402	D	0.000002	T	0.36110	0.0955	M	0.71581	2.175	0.49051	D	0.999741	P	0.38711	0.643	P	0.45506	0.483	T	0.04708	-1.0932	10	0.44086	T	0.13	.	18.5281	0.90980	0.0:0.0:1.0:0.0	.	217	Q5SZK8	FREM2_HUMAN	L	217	ENSP00000280481:R217L	ENSP00000280481:R217L	R	+	2	0	FREM2	38160131	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.711000	0.74675	2.609000	0.88269	0.655000	0.94253	CGC		0.682	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		34	11	1	0	9.18e-22	1.34e-21	34	11				
RB1	5925	broad.mit.edu	37	13	48941688	48941688	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr13:48941688C>T	ENST00000267163.4	+	10	1136	c.998C>T	c.(997-999)gCa>gTa	p.A333V		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	333					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(7)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GATCTAGATGCAAGATTATTT	0.284		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.2		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	D|Mis|N|F|S	retinoblastoma gene			"""L, E, M, O"""		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung		22	Whole gene deletion(15)|Unknown(7)	p.?(6)	bone(11)|breast(5)|adrenal_gland(1)|eye(1)|soft_tissue(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358						c.(997-999)GCA>GTA		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						71.0	84.0	80.0					13																	48941688		2192	4289	6481	SO:0001583	missense	5925	Hereditary_Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48941688C>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.998C>T	13.37:g.48941688C>T	ENSP00000267163:p.Ala333Val	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				RB1_uc010act.1_Missense_Mutation_p.A34V	p.A333V	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	10	1164	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	333					A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	37	c.998C>T	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.508039	0.64410	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.92397	-3.03	5.43	5.43	0.79202	.	0.058442	0.64402	D	0.000002	D	0.90923	0.7147	L	0.53249	1.67	0.58432	D	0.999992	B	0.33583	0.418	B	0.34873	0.191	D	0.90347	0.4363	10	0.54805	T	0.06	.	18.8309	0.92139	0.0:1.0:0.0:0.0	.	333	P06400	RB_HUMAN	V	312;333	ENSP00000267163:A333V	ENSP00000267163:A333V	A	+	2	0	RB1	47839689	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.656000	0.67988	2.521000	0.84997	0.591000	0.81541	GCA		0.284	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			48	29	0	0	0	0	48	29				
PCDH17	27253	broad.mit.edu	37	13	58298958	58298958	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr13:58298958G>C	ENST00000377918.3	+	4	3036	c.3010G>C	c.(3010-3012)Gac>Cac	p.D1004H		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1004					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		ATTTGGAAAAGACAAGCGAGA	0.433																																					Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1		NA																	0				ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(3010-3012)GAC>CAC		protocadherin 17 precursor							116.0	114.0	114.0					13																	58298958		2203	4300	6503	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58298958G>C	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.3010G>C	13.37:g.58298958G>C	ENSP00000367151:p.Asp1004His					PCDH17_uc010aec.1_Missense_Mutation_p.D1003H|PCDH17_uc001vhr.1_Missense_Mutation_p.D93H	p.D1004H	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	4	3902	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	1004			Cytoplasmic (Potential).		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.3010G>C	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.817591	0.50633	.	.	ENSG00000118946	ENST00000377918	T	0.59638	0.25	6.07	6.07	0.98685	.	0.318275	0.37530	N	0.002046	T	0.70116	0.3187	L	0.49778	1.585	0.80722	D	1	D	0.64830	0.994	P	0.60012	0.867	T	0.64609	-0.6367	9	.	.	.	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	1004	O14917	PCD17_HUMAN	H	1004	ENSP00000367151:D1004H	.	D	+	1	0	PCDH17	57196959	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.885000	0.99019	0.655000	0.94253	GAC		0.433	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		55	23	0	0	0	0	55	23				
PCDH20	64881	broad.mit.edu	37	13	61985813	61985813	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr13:61985813C>T	ENST00000409186.1	-	5	4524	c.2419G>A	c.(2419-2421)Gaa>Aaa	p.E807K	PCDH20_ENST00000409204.4_Missense_Mutation_p.E807K			Q8N6Y1	PCD20_HUMAN	protocadherin 20	807	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		AATGCCTCTTCCAAAGTAATG	0.488																																						uc001vid.3		NA																	0				ovary(4)|breast(1)|central_nervous_system(1)	6						c.(2419-2421)GAA>AAA		protocadherin 20							107.0	102.0	104.0					13																	61985813		2203	4300	6503	SO:0001583	missense	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61985813C>T	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.2419G>A	13.37:g.61985813C>T	ENSP00000386653:p.Glu807Lys					PCDH20_uc010thj.1_Missense_Mutation_p.E807K	p.E807K	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	2	2783	-		Breast(118;0.195)|Prostate(109;0.229)	780			Cadherin 6.|Extracellular (Potential).		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	c.2419G>A	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	C	8.909	0.958270	0.18507	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.49432	0.78;0.78	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000005	T	0.17408	0.0418	N	0.00360	-1.595	0.46874	D	0.999239	B	0.14438	0.01	B	0.13407	0.009	T	0.41378	-0.9512	10	0.06757	T	0.87	.	20.1143	0.97922	0.0:1.0:0.0:0.0	.	807	A8K1K9	.	K	807;807;553	ENSP00000387250:E807K;ENSP00000386653:E807K	ENSP00000351500:E553K	E	-	1	0	PCDH20	60883814	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.392000	0.44433	2.765000	0.95021	0.650000	0.86243	GAA		0.488	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		81	30	0	0	0	0	81	30				
FARP1	10160	broad.mit.edu	37	13	99092244	99092244	+	Silent	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr13:99092244G>T	ENST00000319562.6	+	22	2728	c.2463G>T	c.(2461-2463)gtG>gtT	p.V821V	FARP1_ENST00000595437.1_Silent_p.V852V|FARP1_ENST00000376586.2_Silent_p.V852V	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	821	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AGTGGGGGGTGCCCCACTGCC	0.617																																						uc001vnj.2		NA																	0				breast(2)	2						c.(2461-2463)GTG>GTT		FERM, RhoGEF, and pleckstrin domain protein 1							138.0	154.0	149.0					13																	99092244		2203	4300	6503	SO:0001819	synonymous_variant	10160				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:99092244G>T	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.2463G>T	13.37:g.99092244G>T						FARP1_uc001vnh.2_Silent_p.V852V	p.V821V	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		22	2799	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		821			PH 1.		Q5JVI9|Q6IQ29	Silent	SNP	ENST00000319562.6	37	c.2463G>T	CCDS9487.1																																																																																				0.617	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		157	65	1	0	1.46e-73	2.29e-73	157	65				
DOCK9	23348	broad.mit.edu	37	13	99481561	99481561	+	Splice_Site	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr13:99481561C>G	ENST00000376460.1	-	43	4976	c.4896G>C	c.(4894-4896)gaG>gaC	p.E1632D	DOCK9_ENST00000448493.2_3'UTR|DOCK9-AS1_ENST00000439367.1_RNA|DOCK9_ENST00000339416.2_Splice_Site_p.E1633D	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1633	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GGGCTACTACCTCTGAGAGAT	0.488																																						uc001vnt.2		NA																	0				central_nervous_system(1)	1						c.(4897-4899)GAG>GAC		dedicator of cytokinesis 9 isoform a							33.0	32.0	32.0					13																	99481561		1929	4148	6077	SO:0001630	splice_region_variant	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99481561C>G	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.4896+1G>C	13.37:g.99481561C>G						DOCK9_uc001vnw.2_Missense_Mutation_p.E1632D|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.E1633D|DOCK9_uc001vnq.2_Missense_Mutation_p.E205D|DOCK9_uc001vnr.2_Missense_Mutation_p.E276D|DOCK9_uc010tin.1_Missense_Mutation_p.E276D|DOCK9_uc001vns.2_Missense_Mutation_p.E205D|DOCK9_uc010tio.1_Missense_Mutation_p.E325D|DOCK9_uc010tip.1_Missense_Mutation_p.E343D|DOCK9_uc001vnu.1_Missense_Mutation_p.E205D|DOCK9_uc010tiq.1_Missense_Mutation_p.E611D	p.E1633D	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN			43	4954	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		1633			DHR-2.		B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000376460.1	37	c.4899G>C	CCDS45062.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	22.2|22.2|22.2	4.257235|4.257235|4.257235	0.80246|0.80246|0.80246	.|.|.	.|.|.	ENSG00000088387|ENSG00000088387|ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000400220;ENST00000339416;ENST00000376453;ENST00000451563;ENST00000340449|ENST00000400228|ENST00000419908	T;T;T|.|.	0.75938|.|.	0.68;0.81;-0.98|.|.	5.77|5.77|5.77	4.93|4.93|4.93	0.64822|0.64822|0.64822	.|.|.	0.049748|.|.	0.85682|.|.	D|.|.	0.000000|.|.	D|D|D	0.86058|0.86058|0.86058	0.5842|0.5842|0.5842	H|H|H	0.94620|0.94620|0.94620	3.56|3.56|3.56	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D;D;D;D;D;D|.|.	0.89917|.|.	0.998;1.0;1.0;1.0;1.0;1.0;1.0;1.0|.|.	D;D;D;D;D;D;D;D|.|.	0.97110|.|.	0.986;0.999;0.999;1.0;1.0;0.999;0.999;1.0|.|.	D|D|D	0.90189|0.90189|0.90189	0.4248|0.4248|0.4248	9|5|5	.|.|.	.|.|.	.|.|.	.|.|.	14.9998|14.9998|14.9998	0.71462|0.71462|0.71462	0.0:0.9317:0.0:0.0683|0.0:0.9317:0.0:0.0683|0.0:0.9317:0.0:0.0683	.|.|.	1633;352;276;1632;276;1633;325;275|.|.	A8MWZ5;B7Z6H5;B7Z2J2;Q9BZ29-5;Q5JUD8;Q9BZ29;B7Z6G9;F5H1Q4|.|.	.;.;.;.;.;DOCK9_HUMAN;.;.|.|.	D|R|T	1632;1633;1625;1633;1632;563;1633;275;20;276|220|50	ENSP00000365643:E1632D;ENSP00000341086:E1633D;ENSP00000344702:E276D|.|.	.|.|.	E|G|R	-|-|-	3|1|2	2|0|0	DOCK9|DOCK9|DOCK9	98279562|98279562|98279562	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.593000|0.593000|0.593000	0.36681|0.36681|0.36681	7.365000|7.365000|7.365000	0.79537|0.79537|0.79537	1.578000|1.578000|1.578000	0.49821|0.49821|0.49821	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAG|GGC|AGG		0.488	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296	Missense_Mutation	4	2	0	0	0	0	4	2				
MYO16	23026	broad.mit.edu	37	13	109793638	109793638	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr13:109793638C>A	ENST00000357550.2	+	31	5053	c.5012C>A	c.(5011-5013)cCc>cAc	p.P1671H	MYO16_ENST00000356711.2_Missense_Mutation_p.P1671H	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CTCAGCAGCCCCCTGGACGAG	0.672																																						uc001vqt.1		NA																	0				ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10						c.(5011-5013)CCC>CAC		myosin heavy chain Myr 8							11.0	15.0	14.0					13																	109793638		2198	4286	6484	SO:0001583	missense	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109793638C>A		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.5012C>A	13.37:g.109793638C>A	ENSP00000350160:p.Pro1671His					MYO16_uc010agk.1_Missense_Mutation_p.P1693H	p.P1671H	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		32	5138	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		1671			Pro-rich.			Missense_Mutation	SNP	ENST00000357550.2	37	c.5012C>A	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.211122	0.58343	.	.	ENSG00000041515	ENST00000356711;ENST00000357550	D;D	0.95377	-3.69;-3.69	4.95	4.95	0.65309	.	0.000000	0.40469	U	0.001087	D	0.97300	0.9117	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97265	0.9907	9	.	.	.	.	17.1893	0.86875	0.0:1.0:0.0:0.0	.	1671	Q9Y6X6	MYO16_HUMAN	H	1671	ENSP00000349145:P1671H;ENSP00000350160:P1671H	.	P	+	2	0	MYO16	108591639	1.000000	0.71417	0.948000	0.38648	0.355000	0.29361	7.057000	0.76669	2.289000	0.77006	0.467000	0.42956	CCC		0.672	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		6	4	1	0	8.13e-05	9.08e-05	6	4				
REM2	161253	broad.mit.edu	37	14	23354038	23354038	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr14:23354038G>C	ENST00000267396.4	+	2	382	c.259G>C	c.(259-261)Gac>Cac	p.D87H	REM2_ENST00000536884.1_Missense_Mutation_p.D87H	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN	RAS (RAD and GEM)-like GTP binding 2	87					small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		AGATGAACTTGACTGGCCACC	0.622																																						uc001whf.1		NA																	0				large_intestine(1)|central_nervous_system(1)	2						c.(259-261)GAC>CAC		rad and gem related GTP binding protein 2							38.0	44.0	42.0					14																	23354038		2169	4272	6441	SO:0001583	missense	161253				regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding	g.chr14:23354038G>C		CCDS45082.1	14q11.2	2014-05-09	2006-12-14		ENSG00000139890	ENSG00000139890			20248	protein-coding gene	gene with protein product			"""RAS (RAD and GEM) like GTP binding 2"""			10727423	Standard	NM_173527		Approved	FLJ38964	uc001whf.1	Q8IYK8	OTTHUMG00000170277	ENST00000267396.4:c.259G>C	14.37:g.23354038G>C	ENSP00000267396:p.Asp87His					REM2_uc010tnd.1_Missense_Mutation_p.D79H	p.D87H	NM_173527	NP_775798	Q8IYK8	REM2_HUMAN		GBM - Glioblastoma multiforme(265;0.012)	2	324	+	all_cancers(95;4.69e-05)		87					B7Z5P1|Q8N8R8	Missense_Mutation	SNP	ENST00000267396.4	37	c.259G>C	CCDS45082.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.811388	0.90707	.	.	ENSG00000139890	ENST00000267396;ENST00000536884	T;T	0.69306	-0.39;0.68	6.02	6.02	0.97574	.	0.171620	0.50627	D	0.000120	T	0.75989	0.3925	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.972	T	0.75584	-0.3267	10	0.54805	T	0.06	.	19.3122	0.94192	0.0:0.0:1.0:0.0	.	87;87	B7Z5P1;Q8IYK8	.;REM2_HUMAN	H	87	ENSP00000267396:D87H;ENSP00000442774:D87H	ENSP00000267396:D87H	D	+	1	0	REM2	22423878	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.464000	0.60134	2.865000	0.98341	0.655000	0.94253	GAC		0.622	REM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408290.1	NM_173527		7	81	0	0	0	0	7	81				
REM2	161253	broad.mit.edu	37	14	23355356	23355356	+	Missense_Mutation	SNP	G	G	A	rs376686140		TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr14:23355356G>A	ENST00000267396.4	+	4	766	c.643G>A	c.(643-645)Gct>Act	p.A215T	REM2_ENST00000536884.1_Missense_Mutation_p.G190D	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN	RAS (RAD and GEM)-like GTP binding 2	215					small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		TCGGCTCCGGGCTGGGAGGCC	0.597																																						uc001whf.1		NA																	0				large_intestine(1)|central_nervous_system(1)	2						c.(643-645)GCT>ACT		rad and gem related GTP binding protein 2							39.0	45.0	43.0					14																	23355356		1926	4116	6042	SO:0001583	missense	161253				regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding	g.chr14:23355356G>A		CCDS45082.1	14q11.2	2014-05-09	2006-12-14		ENSG00000139890	ENSG00000139890			20248	protein-coding gene	gene with protein product			"""RAS (RAD and GEM) like GTP binding 2"""			10727423	Standard	NM_173527		Approved	FLJ38964	uc001whf.1	Q8IYK8	OTTHUMG00000170277	ENST00000267396.4:c.643G>A	14.37:g.23355356G>A	ENSP00000267396:p.Ala215Thr					REM2_uc010tnd.1_Missense_Mutation_p.G182D	p.A215T	NM_173527	NP_775798	Q8IYK8	REM2_HUMAN		GBM - Glioblastoma multiforme(265;0.012)	4	708	+	all_cancers(95;4.69e-05)		215					B7Z5P1|Q8N8R8	Missense_Mutation	SNP	ENST00000267396.4	37	c.643G>A	CCDS45082.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.57|17.57	3.423716|3.423716	0.62733|0.62733	.|.	.|.	ENSG00000139890|ENSG00000139890	ENST00000267396|ENST00000536884	T|T	0.76578|0.39997	-1.03|1.05	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	0.118027|.	0.64402|.	D|.	0.000019|.	T|T	0.24509|0.24509	0.0594|0.0594	N|N	0.04669|0.04669	-0.19|-0.19	0.35401|0.35401	D|D	0.791609|0.791609	P|P	0.42908|0.42203	0.793|0.773	B|B	0.36134|0.40534	0.218|0.332	T|T	0.38779|0.38779	-0.9645|-0.9645	10|9	0.59425|0.87932	D|D	0.04|0	.|.	11.924|11.924	0.52808|0.52808	0.0813:0.0:0.9187:0.0|0.0813:0.0:0.9187:0.0	.|.	215|190	Q8IYK8|B7Z5P1	REM2_HUMAN|.	T|D	215|190	ENSP00000267396:A215T|ENSP00000442774:G190D	ENSP00000267396:A215T|ENSP00000442774:G190D	A|G	+|+	1|2	0|0	REM2|REM2	22425196|22425196	0.991000|0.991000	0.36638|0.36638	1.000000|1.000000	0.80357|0.80357	0.696000|0.696000	0.40369|0.40369	1.541000|1.541000	0.36126|0.36126	2.744000|2.744000	0.94065|0.94065	0.563000|0.563000	0.77884|0.77884	GCT|GGC		0.597	REM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408290.1	NM_173527		7	61	0	0	0	0	7	61				
CTSG	1511	broad.mit.edu	37	14	25043923	25043923	+	Silent	SNP	T	T	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr14:25043923T>C	ENST00000216336.2	-	3	333	c.297A>G	c.(295-297)caA>caG	p.Q99Q		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	99	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		GCTGATTATATTGAGGGTGGC	0.537																																						uc001wpq.2		NA																	0				ovary(2)	2						c.(295-297)CAA>CAG		cathepsin G preproprotein							213.0	171.0	186.0					14																	25043923		2203	4300	6503	SO:0001819	synonymous_variant	1511				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	g.chr14:25043923T>C	M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"""Cathepsins"", ""Endogenous ligands"""	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.297A>G	14.37:g.25043923T>C							p.Q99Q	NM_001911	NP_001902	P08311	CATG_HUMAN		GBM - Glioblastoma multiforme(265;0.0269)	3	334	-			99			Peptidase S1.		Q6IBJ6|Q9UCA5|Q9UCU6	Silent	SNP	ENST00000216336.2	37	c.297A>G	CCDS9631.1																																																																																				0.537	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2	NM_001911		104	28	0	0	0	0	104	28				
STRN3	29966	broad.mit.edu	37	14	31405784	31405784	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr14:31405784C>A	ENST00000357479.5	-	6	959	c.763G>T	c.(763-765)Gat>Tat	p.D255Y	STRN3_ENST00000355683.5_Missense_Mutation_p.D255Y	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	255					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		TCACTGTCATCGGCATTTTCT	0.363																																						uc001wqu.2		NA																	0					0						c.(763-765)GAT>TAT		nuclear autoantigen isoform 1							153.0	138.0	143.0					14																	31405784		2203	4300	6503	SO:0001583	missense	29966				negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity	g.chr14:31405784C>A		CCDS9641.1, CCDS41938.1	14q13-q21	2013-01-10			ENSG00000196792	ENSG00000196792		"""WD repeat domain containing"""	15720	protein-coding gene	gene with protein product	"""cell cycle S/G2 nuclear autoantigen"""	614766				7864889, 10681496	Standard	NM_014574		Approved	SG2NA	uc001wqu.2	Q13033	OTTHUMG00000140201	ENST00000357479.5:c.763G>T	14.37:g.31405784C>A	ENSP00000350071:p.Asp255Tyr					STRN3_uc001wqv.2_Missense_Mutation_p.D255Y|STRN3_uc010tpj.1_RNA	p.D255Y	NM_001083893	NP_001077362	Q13033	STRN3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)	6	979	-	Hepatocellular(127;0.0877)|Breast(36;0.148)		255					A2RTX7|A6NHZ7|Q9NRA5	Missense_Mutation	SNP	ENST00000357479.5	37	c.763G>T	CCDS41938.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.4|23.4	4.413405|4.413405	0.83449|0.83449	.|.	.|.	ENSG00000196792|ENSG00000196792	ENST00000355683;ENST00000357479|ENST00000556577	D;D|.	0.85861|.	-2.04;-2.04|.	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	0.702213|.	0.15170|.	N|.	0.276729|.	T|T	0.74635|0.74635	0.3742|0.3742	M|M	0.65498|0.65498	2.005|2.005	0.58432|0.58432	D|D	0.999996|0.999996	D;D|.	0.67145|.	0.996;0.993|.	P;P|.	0.60949|.	0.881;0.848|.	T|T	0.73202|0.73202	-0.4057|-0.4057	10|5	0.72032|.	D|.	0.01|.	-6.2678|-6.2678	19.0451|19.0451	0.93016|0.93016	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	255;255|.	Q13033-2;Q13033|.	.;STRN3_HUMAN|.	Y|L	255|15	ENSP00000347909:D255Y;ENSP00000350071:D255Y|.	ENSP00000347909:D255Y|.	D|R	-|-	1|2	0|0	STRN3|STRN3	30475535|30475535	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	6.471000|6.471000	0.73562|0.73562	2.489000|2.489000	0.83994|0.83994	0.557000|0.557000	0.71058|0.71058	GAT|CGA		0.363	STRN3-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409713.1	NM_014574		58	17	1	0	2.37e-18	3.34e-18	58	17				
STRN3	29966	broad.mit.edu	37	14	31405799	31405799	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr14:31405799A>C	ENST00000357479.5	-	6	944	c.748T>G	c.(748-750)Ttc>Gtc	p.F250V	STRN3_ENST00000355683.5_Missense_Mutation_p.F250V	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	250					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		TTTTCTAAGAAATTGAACGTC	0.383																																						uc001wqu.2		NA																	0					0						c.(748-750)TTC>GTC		nuclear autoantigen isoform 1							140.0	124.0	130.0					14																	31405799		2203	4300	6503	SO:0001583	missense	29966				negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity	g.chr14:31405799A>C		CCDS9641.1, CCDS41938.1	14q13-q21	2013-01-10			ENSG00000196792	ENSG00000196792		"""WD repeat domain containing"""	15720	protein-coding gene	gene with protein product	"""cell cycle S/G2 nuclear autoantigen"""	614766				7864889, 10681496	Standard	NM_014574		Approved	SG2NA	uc001wqu.2	Q13033	OTTHUMG00000140201	ENST00000357479.5:c.748T>G	14.37:g.31405799A>C	ENSP00000350071:p.Phe250Val					STRN3_uc001wqv.2_Missense_Mutation_p.F250V|STRN3_uc010tpj.1_RNA	p.F250V	NM_001083893	NP_001077362	Q13033	STRN3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)	6	964	-	Hepatocellular(127;0.0877)|Breast(36;0.148)		250					A2RTX7|A6NHZ7|Q9NRA5	Missense_Mutation	SNP	ENST00000357479.5	37	c.748T>G	CCDS41938.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.8|24.8	4.566644|4.566644	0.86439|0.86439	.|.	.|.	ENSG00000196792|ENSG00000196792	ENST00000556577|ENST00000355683;ENST00000357479	.|D;D	.|0.85339	.|-1.97;-1.97	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.91506|0.91506	0.7318|0.7318	M|M	0.79693|0.79693	2.465|2.465	0.51482|0.51482	D|D	0.999925|0.999925	.|D;D	.|0.54601	.|0.96;0.967	.|P;P	.|0.60789	.|0.469;0.879	D|D	0.92752|0.92752	0.6217|0.6217	6|10	.|0.87932	.|D	.|0	-4.7191|-4.7191	15.3172|15.3172	0.74089|0.74089	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|250;250	.|Q13033-2;Q13033	.|.;STRN3_HUMAN	C|V	10|250	.|ENSP00000347909:F250V;ENSP00000350071:F250V	.|ENSP00000347909:F250V	F|F	-|-	2|1	0|0	STRN3|STRN3	30475550|30475550	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.726000|7.726000	0.84824|0.84824	2.013000|2.013000	0.59113|0.59113	0.455000|0.455000	0.32223|0.32223	TTT|TTC		0.383	STRN3-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409713.1	NM_014574		51	17	0	0	0	0	51	17				
CDKL1	8814	broad.mit.edu	37	14	50857053	50857053	+	5'UTR	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr14:50857053C>T	ENST00000356146.1	-	0	855				CDKL1_ENST00000395834.1_Intron|CDKL1_ENST00000216378.2_Intron			Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1 (CDC2-related kinase)						heart development (GO:0007507)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					TGTCCTTGACCTCCAACTCCG	0.478																																						uc010anu.1		NA																	0				ovary(1)|stomach(1)	2						c.(856-858)GGT>AGT		cyclin-dependent kinase-like 1							52.0	46.0	48.0					14																	50857053		876	1991	2867	SO:0001623	5_prime_UTR_variant	8814					cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr14:50857053C>T	AF390028	CCDS9699.1, CCDS73637.1	14q21.3	2011-11-04			ENSG00000100490	ENSG00000100490		"""Cyclin-dependent kinases"""	1781	protein-coding gene	gene with protein product		603441				1639063, 7595554	Standard	XM_005268157		Approved	KKIALRE	uc010anu.2	Q00532	OTTHUMG00000140290	ENST00000356146.1:c.-2127G>A	14.37:g.50857053C>T						CDKL1_uc001wxz.2_Intron	p.G286S	NM_004196	NP_004187	Q00532	CDKL1_HUMAN			6	856	-	all_epithelial(31;0.000746)|Breast(41;0.0102)		Error:Variant_position_missing_in_Q00532_after_alignment					Q2M3A4|Q6QUA0|Q8WXQ5	Missense_Mutation	SNP	ENST00000356146.1	37	c.856G>A																																																																																					0.478	CDKL1-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000276873.2			21	34	0	0	0	0	21	34				
FBXO34	55030	broad.mit.edu	37	14	55818402	55818402	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr14:55818402G>A	ENST00000313833.4	+	2	1539	c.1294G>A	c.(1294-1296)Gtt>Att	p.V432I	FBXO34_ENST00000440021.1_Missense_Mutation_p.V432I	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	432			V -> A (in dbSNP:rs35070799).							breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						CACAGATGCTGTTGATTGTAT	0.418																																						uc001xbu.2		NA																	0				ovary(2)|lung(2)|skin(1)	5						c.(1294-1296)GTT>ATT		F-box only protein 34							137.0	128.0	131.0					14																	55818402		2203	4300	6503	SO:0001583	missense	55030							g.chr14:55818402G>A	AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"""F-boxes /  ""other"""""	20201	protein-coding gene	gene with protein product		609104	"""F-box only protein 34"""				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.1294G>A	14.37:g.55818402G>A	ENSP00000313159:p.Val432Ile					FBXO34_uc001xbv.2_RNA|FBXO34_uc010aoo.2_Missense_Mutation_p.V432I	p.V432I	NM_017943	NP_060413	Q9NWN3	FBX34_HUMAN			2	1539	+			432					Q2VPB5|Q4VBP5|Q86TY4	Missense_Mutation	SNP	ENST00000313833.4	37	c.1294G>A	CCDS32086.1	.	.	.	.	.	.	.	.	.	.	G	4.039	0.004791	0.07866	.	.	ENSG00000178974	ENST00000313833;ENST00000440021	T;T	0.20738	2.05;2.05	5.48	-0.806	0.10875	.	0.665108	0.13820	N	0.360485	T	0.18130	0.0435	L	0.56769	1.78	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.21621	-1.0240	10	0.38643	T	0.18	0.0061	7.4345	0.27148	0.485:0.1141:0.4009:0.0	.	432	Q9NWN3	FBX34_HUMAN	I	432	ENSP00000313159:V432I;ENSP00000394117:V432I	ENSP00000313159:V432I	V	+	1	0	FBXO34	54888155	0.000000	0.05858	0.003000	0.11579	0.380000	0.30137	-0.393000	0.07305	-0.033000	0.13736	0.650000	0.86243	GTT		0.418	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1			16	282	0	0	0	0	16	282				
DACT1	51339	broad.mit.edu	37	14	59112862	59112862	+	Silent	SNP	A	A	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr14:59112862A>G	ENST00000335867.4	+	4	1545	c.1521A>G	c.(1519-1521)aaA>aaG	p.K507K	DACT1_ENST00000395153.3_Silent_p.K470K|DACT1_ENST00000541264.2_Silent_p.K226K|DACT1_ENST00000556859.1_Silent_p.K226K			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	507					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						AGCCCCTGAAAAAGATGTCAC	0.592																																						uc001xdw.2		NA																	0				large_intestine(2)|lung(2)|ovary(1)	5						c.(1519-1521)AAA>AAG		dapper 1 isoform 1							63.0	79.0	73.0					14																	59112862		2202	4299	6501	SO:0001819	synonymous_variant	51339				multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr14:59112862A>G	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.1521A>G	14.37:g.59112862A>G						DACT1_uc010trv.1_Silent_p.K226K|DACT1_uc001xdx.2_Silent_p.K470K|DACT1_uc010trw.1_Silent_p.K226K	p.K507K	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN			4	1685	+			507					A8MYJ2|Q86TY0	Silent	SNP	ENST00000335867.4	37	c.1521A>G	CCDS9736.1																																																																																				0.592	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		159	29	0	0	0	0	159	29				
L3HYPDH	112849	broad.mit.edu	37	14	59950740	59950741	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr14:59950740_59950741CC>AA	ENST00000247194.4	-	1	407_408	c.294_295GG>TT	c.(292-297)gaGGgc>gaTTgc	p.98_99EG>DC	JKAMP_ENST00000554271.1_5'Flank|JKAMP_ENST00000261247.9_5'Flank|JKAMP_ENST00000425728.2_5'Flank|JKAMP_ENST00000556985.1_5'Flank|JKAMP_ENST00000356057.5_5'Flank|RP11-701B16.2_ENST00000554253.1_RNA|L3HYPDH_ENST00000487285.1_5'Flank	NM_144581.1	NP_653182.1	Q96EM0	T3HPD_HUMAN	L-3-hydroxyproline dehydratase (trans-)	98					metabolic process (GO:0008152)		hydro-lyase activity (GO:0016836)|trans-L-3-hydroxyproline dehydratase activity (GO:0050346)									L-Proline(DB00172)	GAGCTGTAGCCCTCGTTGTGCA	0.708											OREG0022712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001xee.1		NA																	0				ovary(1)	1						c.(292-297)GAGGGC>GATTGC		proline racemase-like	L-Proline(DB00172)																																			SO:0001583	missense	112849						proline racemase activity	g.chr14:59950740_59950741CC>AA	AI762327	CCDS9739.1	14q23.1	2012-08-15	2012-08-15	2012-08-15	ENSG00000126790	ENSG00000126790	4.2.1.77		20488	protein-coding gene	gene with protein product	"""trans-L-3-hydroxyproline dehydratase"""	614811	"""chromosome 14 open reading frame 149"""	C14orf149		22528483	Standard	NM_144581		Approved	FLJ25436	uc001xee.1	Q96EM0	OTTHUMG00000028941	ENST00000247194.4:c.294_295delinsAA	14.37:g.59950740_59950741delinsAA	ENSP00000247194:p.E98_G99delinsDC		OREG0022712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1042	C14orf149_uc010trx.1_Missense_Mutation_p.98_99EG>DC|JKAMP_uc001xef.3_5'Flank|JKAMP_uc001xeh.3_5'Flank|JKAMP_uc001xeg.3_5'Flank|JKAMP_uc010try.1_5'Flank|JKAMP_uc001xei.3_5'Flank	p.98_99EG>DC	NM_144581	NP_653182	Q96EM0	PRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.14)	1	333_334	-			98_99					Q96LJ5	Missense_Mutation	DNP	ENST00000247194.4	37	c.294_295GG>TT	CCDS9739.1																																																																																				0.708	L3HYPDH-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072254.5	NM_144581		6	21	0	0	0	0	6	21				
PPM1A	5494	broad.mit.edu	37	14	60756619	60756619	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr14:60756619G>T	ENST00000395076.4	+	4	1478	c.1048G>T	c.(1048-1050)Gaa>Taa	p.E350*	PPM1A_ENST00000325642.3_Nonsense_Mutation_p.E423*|PPM1A_ENST00000529574.1_Nonsense_Mutation_p.E350*	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1A	350					cell cycle arrest (GO:0007050)|dephosphorylation (GO:0016311)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|N-terminal protein myristoylation (GO:0006499)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|protein dephosphorylation (GO:0006470)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|voltage-gated calcium channel complex (GO:0005891)	calmodulin-dependent protein phosphatase activity (GO:0033192)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)|R-SMAD binding (GO:0070412)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		ACCAGGGGGTGAATTGGCAAG	0.438																																						uc010apn.2		NA																	0				skin(1)	1						c.(1048-1050)GAA>TAA		protein phosphatase 1A isoform 1							57.0	57.0	57.0					14																	60756619		2203	4300	6503	SO:0001587	stop_gained	5494				cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity	g.chr14:60756619G>T	S87759	CCDS9744.1, CCDS9745.1, CCDS45120.1	14q23.1	2013-01-24	2010-03-05		ENSG00000100614	ENSG00000100614	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9275	protein-coding gene	gene with protein product	"""phosphatase 2C alpha"", ""protein phosphatase 2C, alpha isoform"""	606108	"""protein phosphatase 1A (formerly 2C), magnesium-dependent, alpha isoform"""			1311954	Standard	NM_177952		Approved	MGC9201, PP2Calpha, PP2CA	uc001xew.4	P35813	OTTHUMG00000140333	ENST00000395076.4:c.1048G>T	14.37:g.60756619G>T	ENSP00000378514:p.Glu350*					PPM1A_uc001xew.3_Nonsense_Mutation_p.E423*|PPM1A_uc001xey.3_Nonsense_Mutation_p.E350*	p.E350*	NM_021003	NP_066283	P35813	PPM1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.046)	5	1450	+			350					B5BU11|J3KNM0|O75551	Nonsense_Mutation	SNP	ENST00000395076.4	37	c.1048G>T	CCDS9744.1	.	.	.	.	.	.	.	.	.	.	G	39	7.652625	0.98412	.	.	ENSG00000100614	ENST00000325642;ENST00000529574;ENST00000395076	.	.	.	5.36	5.36	0.76844	.	0.043711	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.4366	0.94798	0.0:0.0:1.0:0.0	.	.	.	.	X	423;350;350	.	ENSP00000327255:E423X	E	+	1	0	PPM1A	59826372	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.813000	0.99286	2.669000	0.90835	0.585000	0.79938	GAA		0.438	PPM1A-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276949.2	NM_021003		28	37	1	0	8.58e-18	1.2e-17	28	37				
SPTB	6710	broad.mit.edu	37	14	65268548	65268548	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr14:65268548G>A	ENST00000389721.5	-	5	603	c.571C>T	c.(571-573)Cct>Tct	p.P191S	SPTB_ENST00000389722.3_Missense_Mutation_p.P191S|SPTB_ENST00000389720.3_Missense_Mutation_p.P191S|SPTB_ENST00000542895.1_Missense_Mutation_p.P191S|SPTB_ENST00000556626.1_Missense_Mutation_p.P191S	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	191	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TTAACATGAGGGTAGCTGCAT	0.463											OREG0022735	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001xht.2		NA																	0				ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11						c.(571-573)CCT>TCT		spectrin beta isoform b							128.0	115.0	119.0					14																	65268548		2203	4300	6503	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65268548G>A		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.571C>T	14.37:g.65268548G>A	ENSP00000374371:p.Pro191Ser		OREG0022735	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1082	SPTB_uc001xhr.2_Missense_Mutation_p.P191S|SPTB_uc001xhs.2_Missense_Mutation_p.P191S|SPTB_uc001xhu.2_Missense_Mutation_p.P191S	p.P191S	NM_000347	NP_000338	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	5	625	-		all_lung(585;4.15e-09)	191			Actin-binding.|CH 2.		Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.571C>T	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093557	0.76756	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01	5.44	5.44	0.79542	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	T	0.69611	0.3130	L	0.58428	1.81	0.80722	D	1	P;P	0.42961	0.795;0.767	P;P	0.48952	0.596;0.449	T	0.71755	-0.4497	10	0.59425	D	0.04	.	18.0306	0.89282	0.0:0.0:1.0:0.0	.	191;195	P11277;Q59FP5	SPTB1_HUMAN;.	S	195;191;191;191;191;191	ENSP00000374372:P191S;ENSP00000451752:P191S;ENSP00000374371:P191S;ENSP00000443882:P191S;ENSP00000374370:P191S	ENSP00000374370:P191S	P	-	1	0	SPTB	64338301	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.825000	0.99386	2.541000	0.85698	0.551000	0.68910	CCT		0.463	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			129	17	0	0	0	0	129	17				
VRTN	55237	broad.mit.edu	37	14	74825284	74825284	+	Missense_Mutation	SNP	G	G	A	rs45447993		TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr14:74825284G>A	ENST00000256362.4	+	2	2039	c.1798G>A	c.(1798-1800)Gag>Aag	p.E600K		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	600					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						AGAAGATGTAGAGGGAGGGCC	0.662													g|||	1	0.000199681	0.0	0.0	5008	,	,		16116	0.0		0.001	False		,,,				2504	0.0					uc001xpw.3		NA																	0					0						c.(1798-1800)GAG>AAG		hypothetical protein LOC55237							27.0	34.0	32.0					14																	74825284		2200	4300	6500	SO:0001583	missense	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74825284G>A	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.1798G>A	14.37:g.74825284G>A	ENSP00000256362:p.Glu600Lys						p.E600K	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00147)	2	1989	+			600					Q9NVC7	Missense_Mutation	SNP	ENST00000256362.4	37	c.1798G>A	CCDS9830.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	3.529	-0.096135	0.07010	.	.	ENSG00000133980	ENST00000256362	T	0.41400	1.0	4.47	0.418	0.16429	.	2.274120	0.02729	U	0.114875	T	0.21227	0.0511	N	0.08118	0	0.09310	N	1	B	0.17038	0.02	B	0.14578	0.011	T	0.16778	-1.0391	10	0.07325	T	0.83	-2.0022	6.0516	0.19789	0.1143:0.3232:0.4814:0.0811	rs45447993	600	Q9H8Y1	VRTN_HUMAN	K	600	ENSP00000256362:E600K	ENSP00000256362:E600K	E	+	1	0	VRTN	73895037	0.000000	0.05858	0.000000	0.03702	0.248000	0.25809	0.460000	0.21924	-0.107000	0.12088	0.491000	0.48974	GAG		0.662	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		52	20	0	0	0	0	52	20				
ISM2	145501	broad.mit.edu	37	14	77948965	77948965	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr14:77948965C>A	ENST00000342219.4	-	4	729	c.673G>T	c.(673-675)Gac>Tac	p.D225Y	ISM2_ENST00000412904.1_Missense_Mutation_p.D144Y|ISM2_ENST00000429906.1_Missense_Mutation_p.D144Y|ISM2_ENST00000393684.3_Missense_Mutation_p.D137Y|ISM2_ENST00000493585.1_Intron	NM_199296.2	NP_954993.1	Q6H9L7	ISM2_HUMAN	isthmin 2	225						extracellular region (GO:0005576)				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						GCCAACAGGTCTATCGACACC	0.612																																						uc001xtz.2		NA																	0				skin(1)	1						c.(673-675)GAC>TAC		isthmin 2 homolog isoform 1							71.0	81.0	77.0					14																	77948965		2203	4300	6503	SO:0001583	missense	145501					extracellular region		g.chr14:77948965C>A	AK056709	CCDS9864.1, CCDS45143.1	14q24.3	2013-05-15	2013-05-15	2008-12-23	ENSG00000100593	ENSG00000100593			23176	protein-coding gene	gene with protein product	"""thrombospondin and AMOP containing isthmin-like 1"""	612684	"""thrombospondin, type I domain-containing 3"", ""thrombospondin, type I, domain containing 3"", ""isthmin 2 homolog (zebrafish)"""	THSD3		15194193	Standard	NM_199296		Approved	FLJ32147, TAIL1	uc001xtz.3	Q6H9L7	OTTHUMG00000158563	ENST00000342219.4:c.673G>T	14.37:g.77948965C>A	ENSP00000341490:p.Asp225Tyr					ISM2_uc001xua.2_Intron|ISM2_uc001xty.2_Missense_Mutation_p.D137Y|ISM2_uc010tvl.1_Missense_Mutation_p.D144Y	p.D225Y	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN			4	747	-			225					A8K6D5|O95432|Q495U5|Q68CN3|Q86TQ7|Q86TW3|Q86TW4|Q8N501|Q8NBL0	Missense_Mutation	SNP	ENST00000342219.4	37	c.673G>T	CCDS9864.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.354574	0.41700	.	.	ENSG00000100593	ENST00000342219;ENST00000412904;ENST00000429906;ENST00000393684;ENST00000554801	T;T;T;T	0.33216	1.42;1.49;1.47;1.76	4.98	3.16	0.36331	.	0.123638	0.52532	D	0.000068	T	0.49474	0.1559	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.986	T	0.46247	-0.9205	10	0.87932	D	0	-16.2836	9.3523	0.38145	0.0:0.8344:0.0:0.1656	.	144;225	Q6H9L7-5;Q6H9L7	.;ISM2_HUMAN	Y	225;144;144;137;144	ENSP00000341490:D225Y;ENSP00000416773:D144Y;ENSP00000395387:D144Y;ENSP00000377289:D137Y	ENSP00000341490:D225Y	D	-	1	0	ISM2	77018718	1.000000	0.71417	0.119000	0.21687	0.022000	0.10575	5.369000	0.66138	0.519000	0.28406	0.462000	0.41574	GAC		0.612	ISM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351309.1	NM_182509		107	151	1	0	1.07e-41	1.66e-41	107	151				
SEL1L	6400	broad.mit.edu	37	14	81953772	81953772	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr14:81953772C>T	ENST00000336735.4	-	16	1710	c.1594G>A	c.(1594-1596)Ggc>Agc	p.G532S		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	532	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway (GO:0007219)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		ACGCCGGTGCCACTGGCATGC	0.478																																						uc010tvv.1		NA																	0				ovary(1)	1						c.(1594-1596)GGC>AGC		sel-1 suppressor of lin-12-like precursor							70.0	66.0	67.0					14																	81953772		2203	4300	6503	SO:0001583	missense	6400				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr14:81953772C>T		CCDS9876.1, CCDS58333.1	14q31	2011-03-31	2001-11-28		ENSG00000071537	ENSG00000071537			10717	protein-coding gene	gene with protein product	"""sel-1 suppressor of lin-12-like 1 (C. elegans)"""	602329	"""sel-1 (suppressor of lin-12, C.elegans)-like"""			9417916, 10051412, 16331677	Standard	NM_005065		Approved	IBD2, SEL1L1	uc010tvv.2	Q9UBV2		ENST00000336735.4:c.1594G>A	14.37:g.81953772C>T	ENSP00000337053:p.Gly532Ser						p.G532S	NM_005065	NP_005056	Q9UBV2	SE1L1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0299)	16	1711	-			532			Lumenal (Potential).|Interaction with ERLEC1, OS9 and SYVN1.|Sel1-like 9.		Q6UWT6|Q9P1T9|Q9UHK7	Missense_Mutation	SNP	ENST00000336735.4	37	c.1594G>A	CCDS9876.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.854698	0.91355	.	.	ENSG00000071537	ENST00000336735	T	0.55930	0.49	5.09	5.09	0.68999	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.78723	0.4328	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83952	0.0317	10	0.87932	D	0	.	18.4863	0.90830	0.0:1.0:0.0:0.0	.	532	Q9UBV2	SE1L1_HUMAN	S	532	ENSP00000337053:G532S	ENSP00000337053:G532S	G	-	1	0	SEL1L	81023525	1.000000	0.71417	0.992000	0.48379	0.637000	0.38172	7.487000	0.81328	2.345000	0.79718	0.561000	0.74099	GGC		0.478	SEL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413325.1	NM_005065		60	17	0	0	0	0	60	17				
FLRT2	23768	broad.mit.edu	37	14	86088031	86088031	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr14:86088031C>G	ENST00000330753.4	+	2	940	c.173C>G	c.(172-174)cCt>cGt	p.P58R	FLRT2_ENST00000554746.1_Missense_Mutation_p.P58R	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	58	LRRNT.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		ACCTCAGTGCCTCTTGGGATC	0.522																																						uc001xvr.2		NA																	0				ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4						c.(172-174)CCT>CGT		fibronectin leucine rich transmembrane protein 2							139.0	126.0	131.0					14																	86088031		2203	4300	6503	SO:0001583	missense	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86088031C>G	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.173C>G	14.37:g.86088031C>G	ENSP00000332879:p.Pro58Arg					FLRT2_uc010atd.2_Missense_Mutation_p.P58R	p.P58R	NM_013231	NP_037363	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	940	+			58			Extracellular (Potential).|LRRNT.		A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	c.173C>G	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	C	30	5.056158	0.93793	.	.	ENSG00000185070	ENST00000330753;ENST00000554746	D;D	0.99857	-7.22;-7.22	5.73	5.73	0.89815	Leucine-rich repeat-containing N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.99914	0.9959	H	0.96430	3.82	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96415	0.9307	10	0.87932	D	0	-11.1612	19.9036	0.96999	0.0:1.0:0.0:0.0	.	58	O43155	FLRT2_HUMAN	R	58	ENSP00000332879:P58R;ENSP00000451050:P58R	ENSP00000332879:P58R	P	+	2	0	FLRT2	85157784	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.817000	0.86213	2.706000	0.92434	0.655000	0.94253	CCT		0.522	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			157	48	0	0	0	0	157	48				
CYP46A1	10858	broad.mit.edu	37	14	100157458	100157458	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr14:100157458G>T	ENST00000261835.3	+	2	264	c.160G>T	c.(160-162)Gag>Tag	p.E54*	RP11-543C4.3_ENST00000555875.1_lincRNA|CYP46A1_ENST00000423126.2_5'UTR	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	54					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|nervous system development (GO:0007399)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol 24-hydroxylase activity (GO:0033781)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				GAAAAAGGATGAGGTTGGTGG	0.502																																						uc001ygo.2		NA																	0					0						c.(160-162)GAG>TAG		cytochrome P450, family 46							366.0	296.0	320.0					14																	100157458		2203	4300	6503	SO:0001587	stop_gained	10858				bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity	g.chr14:100157458G>T	AF094480	CCDS9954.1	14q32.2	2013-05-03	2003-02-14	2003-02-28	ENSG00000036530	ENSG00000036530		"""Cytochrome P450s"""	2641	protein-coding gene	gene with protein product		604087	"""cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)"""	CYP46		10377398	Standard	NM_006668		Approved		uc001ygo.3	Q9Y6A2	OTTHUMG00000171510	ENST00000261835.3:c.160G>T	14.37:g.100157458G>T	ENSP00000261835:p.Glu54*					CYP46A1_uc001ygn.1_Missense_Mutation_p.M1I	p.E54*	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN			2	160	+		Melanoma(154;0.0866)|all_epithelial(191;0.179)	54					B4DHP8|E7EQG9|Q8N2B0	Nonsense_Mutation	SNP	ENST00000261835.3	37	c.160G>T	CCDS9954.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.3|21.3	4.122598|4.122598	0.77436|0.77436	.|.	.|.	ENSG00000036530|ENSG00000036530	ENST00000261835|ENST00000380228	.|.	.|.	.|.	3.62|3.62	3.62|3.62	0.41486|0.41486	.|.	0.177234|.	0.38326|.	N|.	0.001726|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.19590|.	T|.	0.45|.	.|.	11.097|11.097	0.48150|0.48150	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	54|40	.|.	ENSP00000261835:E54X|.	E|X	+|+	1|2	0|2	CYP46A1|CYP46A1	99227211|99227211	0.970000|0.970000	0.33590|0.33590	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	1.750000|1.750000	0.38329|0.38329	2.319000|2.319000	0.78375|0.78375	0.563000|0.563000	0.77884|0.77884	GAG|TGA		0.502	CYP46A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413814.1			76	115	1	0	3.64e-30	5.54e-30	76	115				
DEGS2	123099	broad.mit.edu	37	14	100615483	100615483	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr14:100615483G>C	ENST00000305631.5	-	2	1222	c.647C>G	c.(646-648)tCc>tGc	p.S216C	DEGS2_ENST00000557117.1_5'UTR|DEGS2_ENST00000553834.1_Intron	NM_206918.2	NP_996801.2			delta(4)-desaturase, sphingolipid 2											breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				GCCCAGGAAGGAGCTGGCCAG	0.647																																						uc001ygx.2		NA																	0					0						c.(646-648)TCC>TGC		degenerative spermatocyte homolog 2, lipid							51.0	60.0	57.0					14																	100615483		2203	4297	6500	SO:0001583	missense	123099				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity	g.chr14:100615483G>C		CCDS9956.1	14q32.2	2013-09-02	2011-12-09	2004-12-14	ENSG00000168350	ENSG00000168350		"""Fatty acid desaturases"""	20113	protein-coding gene	gene with protein product	"""sphingolipid delta(4)-desaturase 2"", ""dihydroceramide desaturase 2"""	610862	"""chromosome 14 open reading frame 66"", ""degenerative spermatocyte homolog 2, lipid desaturase (Drosophila)"""	C14orf66			Standard	NM_206918		Approved	DES2, FADS8	uc001ygx.2	Q6QHC5	OTTHUMG00000171537	ENST00000305631.5:c.647C>G	14.37:g.100615483G>C	ENSP00000307126:p.Ser216Cys						p.S216C	NM_206918	NP_996801	Q6QHC5	DEGS2_HUMAN			2	735	-		Melanoma(154;0.212)	216			Helical; (Potential).			Missense_Mutation	SNP	ENST00000305631.5	37	c.647C>G	CCDS9956.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.027245	0.54683	.	.	ENSG00000168350	ENST00000305631	T	0.18502	2.21	4.62	3.71	0.42584	Fatty acid desaturase, type 1 (1);	0.407234	0.29775	N	0.011226	T	0.44808	0.1311	H	0.94385	3.53	0.80722	D	1	D	0.54207	0.965	P	0.52514	0.701	T	0.64706	-0.6344	10	0.87932	D	0	-24.0178	15.1479	0.72674	0.0:0.1418:0.8582:0.0	.	216	Q6QHC5	DEGS2_HUMAN	C	216	ENSP00000307126:S216C	ENSP00000307126:S216C	S	-	2	0	DEGS2	99685236	1.000000	0.71417	0.201000	0.23476	0.502000	0.33828	7.889000	0.87307	1.035000	0.39972	0.561000	0.74099	TCC		0.647	DEGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414003.1	NM_206918		83	17	0	0	0	0	83	17				
AHNAK2	113146	broad.mit.edu	37	14	105419983	105419983	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr14:105419983C>A	ENST00000333244.5	-	7	1924	c.1805G>T	c.(1804-1806)aGa>aTa	p.R602I	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	602						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCTTTTTCTCTGCCTGTCTT	0.502																																						uc010axc.1		NA																	0				ovary(1)	1						c.(1804-1806)AGA>ATA		AHNAK nucleoprotein 2							434.0	438.0	436.0					14																	105419983		2122	4244	6366	SO:0001583	missense	113146					nucleus		g.chr14:105419983C>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.1805G>T	14.37:g.105419983C>A	ENSP00000353114:p.Arg602Ile					AHNAK2_uc001ypx.2_Missense_Mutation_p.R502I	p.R602I	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	1925	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	602					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.1805G>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	13.02	2.112132	0.37242	.	.	ENSG00000185567	ENST00000333244	T	0.00816	5.66	4.45	-7.5	0.01351	.	.	.	.	.	T	0.00468	0.0015	N	0.08118	0	0.09310	N	1	B	0.30482	0.281	B	0.30105	0.111	T	0.48364	-0.9042	9	0.15499	T	0.54	.	3.2947	0.06961	0.0897:0.1927:0.2676:0.4499	.	602	Q8IVF2	AHNK2_HUMAN	I	602	ENSP00000353114:R602I	ENSP00000353114:R602I	R	-	2	0	AHNAK2	104491028	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.348000	0.01094	-1.188000	0.02705	0.561000	0.74099	AGA		0.502	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		49	542	1	0	6.03e-31	9.2e-31	49	542				
MKRN3	7681	broad.mit.edu	37	15	23811411	23811411	+	Missense_Mutation	SNP	C	C	A	rs200402711		TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:23811411C>A	ENST00000314520.3	+	1	958	c.482C>A	c.(481-483)cCg>cAg	p.P161Q	MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	161					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GAAGCCCCCCCGGCTGCATCC	0.642																																						uc001ywh.3		NA																	0				lung(6)|large_intestine(2)|ovary(2)	10						c.(481-483)CCG>CAG		makorin ring finger protein 3							25.0	27.0	26.0					15																	23811411		2200	4298	6498	SO:0001583	missense	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23811411C>A	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.482C>A	15.37:g.23811411C>A	ENSP00000313881:p.Pro161Gln					MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.P161Q	p.P161Q	NM_005664	NP_005655	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	958	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	161						Missense_Mutation	SNP	ENST00000314520.3	37	c.482C>A	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.375271	0.24857	.	.	ENSG00000179455	ENST00000314520	T	0.32272	1.46	4.07	1.15	0.20763	.	0.803268	0.11262	N	0.582515	T	0.20495	0.0493	N	0.14661	0.345	0.20307	N	0.999912	P	0.50272	0.933	P	0.49683	0.619	T	0.09907	-1.0653	10	0.25751	T	0.34	.	3.9459	0.09347	0.0:0.5822:0.2007:0.2171	.	161	Q13064	MKRN3_HUMAN	Q	161	ENSP00000313881:P161Q	ENSP00000313881:P161Q	P	+	2	0	MKRN3	21362504	0.000000	0.05858	0.013000	0.15412	0.343000	0.28985	0.417000	0.21214	0.280000	0.22209	0.655000	0.94253	CCG		0.642	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		17	24	1	0	1.15e-07	1.38e-07	17	24				
MKRN3	7681	broad.mit.edu	37	15	23811593	23811593	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:23811593G>T	ENST00000314520.3	+	1	1140	c.664G>T	c.(664-666)Gag>Tag	p.E222*	MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	222					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		ATCTGCCCCCGAGGCTCCTCT	0.597																																						uc001ywh.3		NA																	0				lung(6)|large_intestine(2)|ovary(2)	10						c.(664-666)GAG>TAG		makorin ring finger protein 3							48.0	53.0	52.0					15																	23811593		2203	4300	6503	SO:0001587	stop_gained	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23811593G>T	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.664G>T	15.37:g.23811593G>T	ENSP00000313881:p.Glu222*					MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Nonsense_Mutation_p.E222*	p.E222*	NM_005664	NP_005655	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	1140	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	222						Nonsense_Mutation	SNP	ENST00000314520.3	37	c.664G>T	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	G	36	5.641217	0.96693	.	.	ENSG00000179455	ENST00000314520	.	.	.	4.07	-2.3	0.06785	.	1.142330	0.06339	N	0.707660	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	2.1704	0.03848	0.2139:0.4115:0.2352:0.1393	.	.	.	.	X	222	.	ENSP00000313881:E222X	E	+	1	0	MKRN3	21362686	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.422000	0.21296	-0.408000	0.07565	0.655000	0.94253	GAG		0.597	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		10	24	1	0	0.000978159	0.00105749	10	24				
NPAP1	23742	broad.mit.edu	37	15	24922301	24922301	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:24922301G>T	ENST00000329468.2	+	1	1761	c.1287G>T	c.(1285-1287)ttG>ttT	p.L429F		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	429	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											TCCCTGACTTGGCTGACCTGG	0.542																																						uc001ywo.2		NA																	0				ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(1285-1287)TTG>TTT		hypothetical protein LOC23742							130.0	120.0	123.0					15																	24922301		2203	4300	6503	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24922301G>T	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1287G>T	15.37:g.24922301G>T	ENSP00000333735:p.Leu429Phe						p.L429F	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	1761	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	429			Pro-rich.			Missense_Mutation	SNP	ENST00000329468.2	37	c.1287G>T	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	13.27	2.187285	0.38609	.	.	ENSG00000185823	ENST00000329468	T	0.24538	1.85	2.1	0.0271	0.14153	.	1.562300	0.04342	N	0.354251	T	0.22551	0.0544	N	0.22421	0.69	0.09310	N	1	P	0.44734	0.842	P	0.47981	0.563	T	0.14476	-1.0471	10	0.56958	D	0.05	.	3.3637	0.07196	0.1739:0.2724:0.5538:0.0	.	429	Q9NZP6	CO002_HUMAN	F	429	ENSP00000333735:L429F	ENSP00000333735:L429F	L	+	3	2	C15orf2	22473394	0.000000	0.05858	0.002000	0.10522	0.469000	0.32828	-0.838000	0.04372	0.017000	0.15025	0.313000	0.20887	TTG		0.542	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		32	56	1	0	2.08e-15	2.87e-15	32	56				
GABRA5	2558	broad.mit.edu	37	15	27128609	27128609	+	Silent	SNP	C	C	T	rs372061541		TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:27128609C>T	ENST00000335625.5	+	6	1290	c.402C>T	c.(400-402)ttC>ttT	p.F134F	GABRA5_ENST00000557449.1_Intron|GABRA5_ENST00000400081.3_Silent_p.F134F|GABRA5_ENST00000355395.5_Silent_p.F134F|GABRB3_ENST00000541819.2_Intron	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	134					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	CAGACACGTTCTTCCACAACG	0.577																																						uc001zbd.1		NA																	0				ovary(1)	1						c.(400-402)TTC>TTT		gamma-aminobutyric acid A receptor, alpha 5	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	C	,	0,4396		0,0,2198	69.0	78.0	75.0		402,402	4.5	1.0	15		75	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,coding-synonymous	GABRA5	NM_000810.3,NM_001165037.1	,	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	,	134/463,134/463	27128609	1,12991	2198	4298	6496	SO:0001819	synonymous_variant	2558				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27128609C>T		CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.402C>T	15.37:g.27128609C>T						GABRB3_uc001zbb.2_Intron	p.F134F	NM_000810	NP_000801	P31644	GBRA5_HUMAN		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	7	741	+		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	134			Extracellular (Potential).		A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Silent	SNP	ENST00000335625.5	37	c.402C>T	CCDS45194.1																																																																																				0.577	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1			6	47	0	0	0	0	6	47				
FAN1	22909	broad.mit.edu	37	15	31197880	31197880	+	Silent	SNP	G	G	A	rs577759351	byFrequency	TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:31197880G>A	ENST00000362065.4	+	2	1305	c.1014G>A	c.(1012-1014)gaG>gaA	p.E338E	FAN1_ENST00000565466.1_Silent_p.E338E|FAN1_ENST00000561607.1_Silent_p.E338E|FAN1_ENST00000561594.1_Silent_p.E338E	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	338					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						ACATCCAAGAGGCTCCTCTGC	0.458								Direct reversal of damage					G|||	3	0.000599042	0.0	0.0	5008	,	,		21504	0.0		0.0	False		,,,				2504	0.0031					uc001zff.2		NA																	0					0						c.(1012-1014)GAG>GAA	Direct_reversal_of_damage|Editing_and_processing_nucleases	myotubularin related protein 15 isoform a							103.0	92.0	96.0					15																	31197880		2202	4300	6502	SO:0001819	synonymous_variant	22909				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding	g.chr15:31197880G>A		CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"""KIAA1018"", ""myotubularin related protein 15"""	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.1014G>A	15.37:g.31197880G>A						MTMR15_uc001zfc.3_Silent_p.E338E|MTMR15_uc010azw.2_Silent_p.E338E|MTMR15_uc001zfd.3_Silent_p.E338E|MTMR15_uc001zfe.2_5'UTR	p.E338E	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN		all cancers(64;4.72e-15)|Epithelial(43;5.4e-11)|GBM - Glioblastoma multiforme(186;0.000136)|BRCA - Breast invasive adenocarcinoma(123;0.00402)|Lung(196;0.168)	2	1305	+		all_lung(180;2.23e-09)	338					A8K4M2|Q86WU8	Silent	SNP	ENST00000362065.4	37	c.1014G>A	CCDS32186.1																																																																																				0.458	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1	NM_014967		30	68	0	0	0	0	30	68				
SLC12A6	9990	broad.mit.edu	37	15	34543234	34543234	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:34543234G>T	ENST00000354181.3	-	11	1850	c.1358C>A	c.(1357-1359)cCc>cAc	p.P453H	SLC12A6_ENST00000558667.1_Missense_Mutation_p.P453H|SLC12A6_ENST00000451844.2_Missense_Mutation_p.P265H|SLC12A6_ENST00000558589.1_Missense_Mutation_p.P444H|SLC12A6_ENST00000458406.2_Missense_Mutation_p.P394H|SLC12A6_ENST00000560164.1_Missense_Mutation_p.P265H|SLC12A6_ENST00000397702.2_Missense_Mutation_p.P394H|SLC12A6_ENST00000397707.2_Missense_Mutation_p.P438H|SLC12A6_ENST00000560611.1_Missense_Mutation_p.P453H|SLC12A6_ENST00000290209.5_Missense_Mutation_p.P402H			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	453					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CTCTCCCTTGGGTAGGTAATT	0.383																																						uc001zhw.2		NA																	0				central_nervous_system(5)|ovary(1)|skin(1)	7						c.(1357-1359)CCC>CAC		solute carrier family 12, member 6 isoform a	Potassium Chloride(DB00761)						106.0	101.0	102.0					15																	34543234		2201	4298	6499	SO:0001583	missense	9990				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	g.chr15:34543234G>T	AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.1358C>A	15.37:g.34543234G>T	ENSP00000346112:p.Pro453His					SLC12A6_uc001zhv.2_Missense_Mutation_p.P402H|SLC12A6_uc001zhx.2_Missense_Mutation_p.P438H|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Missense_Mutation_p.P394H|SLC12A6_uc001zib.2_Missense_Mutation_p.P444H|SLC12A6_uc001zic.2_Missense_Mutation_p.P453H|SLC12A6_uc010bau.2_Missense_Mutation_p.P453H|SLC12A6_uc001zid.2_Missense_Mutation_p.P394H|SLC12A6_uc001zht.2_5'Flank|SLC12A6_uc001zhu.2_Missense_Mutation_p.P265H	p.P453H	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	10	1522	-		all_lung(180;2.78e-08)	453			Cytoplasmic (Potential).		A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	ENST00000354181.3	37	c.1358C>A	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	G	9.920	1.211882	0.22289	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39	4.96	2.08	0.27032	.	0.624827	0.16460	N	0.213449	T	0.40196	0.1107	N	0.08118	0	0.09310	N	1	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.08055	0.0;0.001;0.001;0.003	T	0.23226	-1.0194	10	0.49607	T	0.09	.	3.5763	0.07936	0.3542:0.0:0.4774:0.1684	.	438;453;402;265	Q9UHW9-3;Q9UHW9;A0AV76;B3KXX3	.;S12A6_HUMAN;.;.	H	402;438;444;394;394;265	ENSP00000290209:P402H;ENSP00000380819:P438H;ENSP00000380814:P394H;ENSP00000387725:P394H;ENSP00000390199:P265H	ENSP00000290209:P402H	P	-	2	0	SLC12A6	32330526	0.000000	0.05858	0.870000	0.34147	0.993000	0.82548	0.098000	0.15189	0.286000	0.22352	0.655000	0.94253	CCC		0.383	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135		28	53	1	0	2.49e-23	3.69e-23	28	53				
NUTM1	256646	broad.mit.edu	37	15	34640393	34640393	+	Silent	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:34640393C>T	ENST00000333756.4	+	2	395	c.240C>T	c.(238-240)ctC>ctT	p.L80L	NUTM1_ENST00000438749.3_Silent_p.L98L|NUTM1_ENST00000537011.1_Silent_p.L108L	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	80	Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)											GCCCTTGCCTCAGTGGGGCTG	0.557																																						uc001zif.2		NA								T					BRD3|BRD4		lethal midline carcinoma	BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	0				midline_organs(25)|ovary(2)|lung(2)|skin(1)	30						c.(238-240)CTC>CTT		nuclear protein in testis							79.0	79.0	79.0					15																	34640393		2201	4298	6499	SO:0001819	synonymous_variant	256646					cytoplasm|nucleus		g.chr15:34640393C>T	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.240C>T	15.37:g.34640393C>T						C15orf55_uc010ucc.1_Silent_p.L108L|C15orf55_uc010ucd.1_Silent_p.L98L	p.L80L	NM_175741	NP_786883	Q86Y26	NUT_HUMAN		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)	2	395	+		all_lung(180;2.78e-08)	80			Pro-rich.		B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Silent	SNP	ENST00000333756.4	37	c.240C>T	CCDS32190.1																																																																																				0.557	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		29	121	0	0	0	0	29	121				
RASGRP1	10125	broad.mit.edu	37	15	38852064	38852064	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:38852064C>T	ENST00000310803.5	-	2	355	c.178G>A	c.(178-180)Gcc>Acc	p.A60T	RASGRP1_ENST00000559830.1_Missense_Mutation_p.A60T|RASGRP1_ENST00000558164.1_Missense_Mutation_p.A60T|RASGRP1_ENST00000561180.1_Missense_Mutation_p.A111T|RASGRP1_ENST00000450598.2_Missense_Mutation_p.A60T|RASGRP1_ENST00000539159.1_Missense_Mutation_p.A12T	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	60	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.|Ras exchanger motif region; required for transforming activity. {ECO:0000250}.				activation of Rho GTPase activity (GO:0032862)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)|secretory granule localization (GO:0032252)|signal transduction (GO:0007165)|vesicle transport along microtubule (GO:0047496)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TCCAGGCTGGCTCCTTTGGCT	0.502																																						uc001zke.3		NA																	0				large_intestine(1)|ovary(1)	2						c.(178-180)GCC>ACC		RAS guanyl releasing protein 1 isoform a							77.0	81.0	80.0					15																	38852064		1963	4154	6117	SO:0001583	missense	10125				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding	g.chr15:38852064C>T	AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575		"""EF-hand domain containing"""	9878	protein-coding gene	gene with protein product		603962				10087292, 9789079	Standard	NM_005739		Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.178G>A	15.37:g.38852064C>T	ENSP00000310244:p.Ala60Thr					RASGRP1_uc001zkd.3_Missense_Mutation_p.A60T	p.A60T	NM_005739	NP_005730	O95267	GRP1_HUMAN		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)	2	356	-		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)	60			Ras exchanger motif region; required for transforming activity (By similarity).|N-terminal Ras-GEF.		Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Missense_Mutation	SNP	ENST00000310803.5	37	c.178G>A	CCDS45222.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.563273	0.86335	.	.	ENSG00000172575	ENST00000310803;ENST00000450598;ENST00000415523;ENST00000431814;ENST00000539159;ENST00000414708;ENST00000541438	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	4.97	4.97	0.65823	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.105018	0.64402	D	0.000005	T	0.72637	0.3485	M	0.71036	2.16	0.58432	D	0.999992	D;D	0.76494	0.998;0.999	D;D	0.76071	0.986;0.987	T	0.75167	-0.3413	10	0.72032	D	0.01	-21.5412	18.7915	0.91975	0.0:1.0:0.0:0.0	.	60;60	O95267;O95267-2	GRP1_HUMAN;.	T	60;60;60;60;12;60;60	ENSP00000310244:A60T;ENSP00000388540:A60T;ENSP00000444762:A12T;ENSP00000413105:A60T	ENSP00000310244:A60T	A	-	1	0	RASGRP1	36639356	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.208000	0.58486	2.741000	0.93983	0.655000	0.94253	GCC		0.502	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418223.1	NM_005739		11	34	0	0	0	0	11	34				
MAPKBP1	23005	broad.mit.edu	37	15	42117604	42117604	+	Silent	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:42117604C>T	ENST00000456763.2	+	32	4711	c.4515C>T	c.(4513-4515)gcC>gcT	p.A1505A	RP11-23P13.4_ENST00000512295.1_RNA|MAPKBP1_ENST00000221214.6_Silent_p.A1382A|JMJD7-PLA2G4B_ENST00000342159.4_5'Flank|MAPKBP1_ENST00000260357.7_Silent_p.A1338A|MAPKBP1_ENST00000514566.1_Silent_p.A1222A|RP11-23P13.4_ENST00000510176.1_RNA|PLA2G4B_ENST00000542534.2_5'Flank|MAPKBP1_ENST00000457542.2_Silent_p.A1499A|JMJD7_ENST00000397299.4_5'Flank|JMJD7_ENST00000408047.1_5'Flank|JMJD7-PLA2G4B_ENST00000382448.4_5'Flank	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1505										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		TGCTTCGAGCCGTGGAACGGC	0.607																																						uc001zok.3		NA																	0				central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10						c.(4513-4515)GCC>GCT		mitogen-activated protein kinase binding protein							32.0	31.0	32.0					15																	42117604		2203	4300	6503	SO:0001819	synonymous_variant	23005							g.chr15:42117604C>T	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.4515C>T	15.37:g.42117604C>T						MAPKBP1_uc001zoj.3_Silent_p.A1499A|MAPKBP1_uc010bcj.2_Silent_p.A1006A|MAPKBP1_uc010bci.2_Silent_p.A1222A|MAPKBP1_uc010udb.1_Silent_p.A1338A|MAPKBP1_uc010bck.2_Silent_p.A716A|MAPKBP1_uc010bcl.2_Silent_p.A1004A|JMJD7-PLA2G4B_uc010bcm.1_5'Flank|JMJD7-PLA2G4B_uc001zom.2_5'Flank|JMJD7-PLA2G4B_uc001zon.2_5'Flank|JMJD7-PLA2G4B_uc001zoo.3_5'Flank|JMJD7-PLA2G4B_uc010bcn.2_5'Flank	p.A1505A	NM_001128608	NP_001122080	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	32	4801	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	1505					A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Silent	SNP	ENST00000456763.2	37	c.4515C>T	CCDS45239.1																																																																																				0.607	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		13	22	0	0	0	0	13	22				
PLA2G4E	123745	broad.mit.edu	37	15	42278076	42278076	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:42278076G>A	ENST00000399518.3	-	18	2649	c.2163C>T	c.(2161-2163)ctC>ctT	p.L721L	CTD-2382E5.1_ENST00000499478.2_RNA|PLA2G4E_ENST00000413860.2_Silent_p.L692L	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	709	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		GGTGGATGATGAGGTCGGCTT	0.617																																						uc001zow.1		NA																	0					0						c.(2074-2076)CTC>CTT		phospholipase A2, group 4E							62.0	67.0	65.0					15																	42278076		2109	4227	6336	SO:0001819	synonymous_variant	123745				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42278076G>A		CCDS55962.1	15q15.1	2008-09-19			ENSG00000188089	ENSG00000188089	3.1.1.4		24791	protein-coding gene	gene with protein product						15866882	Standard	NM_001206670		Approved	FLJ45651	uc021sjp.1	Q3MJ16	OTTHUMG00000130371	ENST00000399518.3:c.2163C>T	15.37:g.42278076G>A						PLA2G4E_uc010udc.1_Silent_p.L164L|PLA2G4E_uc001zov.1_Silent_p.L345L	p.L692L	NM_001080490	NP_001073959	Q3MJ16	PA24E_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)	17	2076	-		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)	709			PLA2c.		Q6ZSC0	Silent	SNP	ENST00000399518.3	37	c.2076C>T	CCDS55962.1																																																																																				0.617	PLA2G4E-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252738.2	NM_198442		6	10	0	0	0	0	6	10				
TTBK2	146057	broad.mit.edu	37	15	43122142	43122142	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:43122142G>C	ENST00000267890.6	-	5	534	c.426C>G	c.(424-426)atC>atG	p.I142M	TTBK2_ENST00000567840.1_Missense_Mutation_p.I142M|TTBK2_ENST00000567274.1_Missense_Mutation_p.I142M	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	142	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CTACCGGTTTGATGTCTCGAT	0.408																																						uc001zqo.2		NA																	0				ovary(2)|lung(2)|stomach(1)|pancreas(1)|skin(1)	7						c.(424-426)ATC>ATG		tau tubulin kinase 2							120.0	111.0	114.0					15																	43122142		1886	4130	6016	SO:0001583	missense	146057				cell death		ATP binding|protein serine/threonine kinase activity	g.chr15:43122142G>C	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.426C>G	15.37:g.43122142G>C	ENSP00000267890:p.Ile142Met					TTBK2_uc010bcy.2_Missense_Mutation_p.I73M|TTBK2_uc001zqp.2_Missense_Mutation_p.I142M|TTBK2_uc010bcz.1_Missense_Mutation_p.I142M	p.I142M	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN		GBM - Glioblastoma multiforme(94;3.23e-07)	5	865	-		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)	142			Protein kinase.		O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	ENST00000267890.6	37	c.426C>G	CCDS42029.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.092113	0.76756	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.30981	1.51	5.88	3.91	0.45181	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.52224	0.1721	M	0.83692	2.655	0.53688	D	0.999972	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.996;0.999	T	0.52555	-0.8560	10	0.87932	D	0	.	4.5276	0.11988	0.2369:0.0:0.52:0.2432	.	122;73;142;142	Q8IWY7;Q6IQ55-2;Q6IQ55-3;Q6IQ55	.;.;.;TTBK2_HUMAN	M	142;72;122	ENSP00000267890:I142M	ENSP00000263802:I122M	I	-	3	3	TTBK2	40909434	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.066000	0.50002	0.743000	0.32719	-0.367000	0.07326	ATC		0.408	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500		24	65	0	0	0	0	24	65				
SLC28A2	9153	broad.mit.edu	37	15	45560574	45560574	+	Nonsense_Mutation	SNP	C	C	T	rs142426040		TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:45560574C>T	ENST00000347644.3	+	13	1431	c.1366C>T	c.(1366-1368)Cag>Tag	p.Q456*	CTD-2651B20.3_ENST00000560344.1_RNA|CTD-2651B20.3_ENST00000561404.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	456					nucleobase-containing compound metabolic process (GO:0006139)|purine nucleoside transmembrane transport (GO:0015860)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside:sodium symporter activity (GO:0005415)|purine nucleoside transmembrane transporter activity (GO:0015211)			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	Mercaptopurine(DB01033)	GCTCACTTTCCAGGTAAAGGA	0.493																																					NSCLC(92;493 1501 26361 28917 47116)	uc001zva.2		NA																	0				ovary(4)	4						c.(1366-1368)CAG>TAG		solute carrier family 28 (sodium-coupled							120.0	118.0	119.0					15																	45560574		2198	4298	6496	SO:0001587	stop_gained	9153				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity	g.chr15:45560574C>T	U84392	CCDS10121.1	15q15	2013-07-17	2013-07-17		ENSG00000137860	ENSG00000137860		"""Solute carriers"""	11002	protein-coding gene	gene with protein product		606208	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 2"""			9435697	Standard	NM_004212		Approved	CNT2, SPNT1, HCNT2, HsT17153	uc001zva.2	O43868	OTTHUMG00000131426	ENST00000347644.3:c.1366C>T	15.37:g.45560574C>T	ENSP00000315006:p.Gln456*						p.Q456*	NM_004212	NP_004203	O43868	S28A2_HUMAN		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	13	1431	+		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)	456			Helical; (Potential).		A8K7F9|O43239|Q52LZ0	Nonsense_Mutation	SNP	ENST00000347644.3	37	c.1366C>T	CCDS10121.1	.	.	.	.	.	.	.	.	.	.	C	36	5.914547	0.97099	.	.	ENSG00000137860	ENST00000347644	.	.	.	5.8	5.8	0.92144	.	0.102292	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-9.3241	17.5475	0.87866	0.0:1.0:0.0:0.0	.	.	.	.	X	456	.	ENSP00000315006:Q456X	Q	+	1	0	SLC28A2	43347866	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.886000	0.48578	2.758000	0.94735	0.561000	0.74099	CAG		0.493	SLC28A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254219.2	NM_004212		65	97	0	0	0	0	65	97				
SCG3	29106	broad.mit.edu	37	15	51984366	51984366	+	Missense_Mutation	SNP	C	C	A	rs376900304		TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:51984366C>A	ENST00000220478.3	+	7	1104	c.701C>A	c.(700-702)gCa>gAa	p.A234E	SCG3_ENST00000542355.2_Missense_Mutation_p.A2E|RP11-313P18.2_ENST00000559918.1_lincRNA	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	234					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		ACTCCAATGGCAGCAATTCAA	0.378																																						uc002abh.2		NA																	0				ovary(1)	1						c.(700-702)GCA>GAA		secretogranin III isoform 1 precursor							86.0	87.0	87.0					15																	51984366		2195	4293	6488	SO:0001583	missense	29106				platelet activation|platelet degranulation	extracellular region|stored secretory granule		g.chr15:51984366C>A	AF078851	CCDS10142.1, CCDS53947.1	15q21.2	2013-09-23			ENSG00000104112	ENSG00000104112			13707	protein-coding gene	gene with protein product		611796				2053134, 8825061	Standard	NM_013243		Approved	SGIII, FLJ90833	uc002abh.3	Q8WXD2	OTTHUMG00000131748	ENST00000220478.3:c.701C>A	15.37:g.51984366C>A	ENSP00000220478:p.Ala234Glu					SCG3_uc010ufz.1_Missense_Mutation_p.A2E	p.A234E	NM_013243	NP_037375	Q8WXD2	SCG3_HUMAN		all cancers(107;0.00488)	7	1109	+			234					A8K2B0|B3KQP6|B4DK99|F5H3R8|Q96C83|Q96GE8|Q9Y6G7	Missense_Mutation	SNP	ENST00000220478.3	37	c.701C>A	CCDS10142.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.108009	0.77096	.	.	ENSG00000104112	ENST00000220478;ENST00000542355	T;T	0.24350	1.86;1.86	5.85	4.93	0.64822	.	0.454223	0.25823	N	0.028070	T	0.19406	0.0466	N	0.14661	0.345	0.32193	N	0.578781	D	0.53462	0.96	P	0.49922	0.626	T	0.02081	-1.1217	10	0.13108	T	0.6	-18.1067	11.7549	0.51870	0.0:0.9201:0.0:0.0799	.	234	Q8WXD2	SCG3_HUMAN	E	234;2	ENSP00000220478:A234E;ENSP00000445205:A2E	ENSP00000220478:A234E	A	+	2	0	SCG3	49771658	0.074000	0.21230	1.000000	0.80357	0.954000	0.61252	0.600000	0.24104	2.771000	0.95319	0.561000	0.74099	GCA		0.378	SCG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254670.2	NM_013243		17	98	1	0	1.64e-05	1.86e-05	17	98				
UNC13C	440279	broad.mit.edu	37	15	54305610	54305610	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:54305610G>T	ENST00000260323.11	+	1	510	c.510G>T	c.(508-510)gaG>gaT	p.E170D	UNC13C_ENST00000545554.1_Missense_Mutation_p.E170D|UNC13C_ENST00000537900.1_Missense_Mutation_p.E170D	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	170					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)		CTGACGGGGAGCGTACTCTAC	0.473																																						uc002ack.2		NA																	0				ovary(5)|pancreas(2)	7						c.(508-510)GAG>GAT		unc-13 homolog C							109.0	108.0	109.0					15																	54305610		1968	4140	6108	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54305610G>T	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.510G>T	15.37:g.54305610G>T	ENSP00000260323:p.Glu170Asp						p.E170D	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	510	+			170					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.510G>T	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.380406	0.61845	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.84730	-1.89;-1.89;-1.89	5.16	0.887	0.19200	.	.	.	.	.	D	0.82834	0.5123	L	0.32530	0.975	0.34435	D	0.698986	D	0.67145	0.996	P	0.55161	0.77	T	0.82665	-0.0345	9	0.52906	T	0.07	.	9.1843	0.37160	0.5977:0.0:0.4023:0.0	.	170	Q8NB66	UN13C_HUMAN	D	170	ENSP00000260323:E170D;ENSP00000438156:E170D;ENSP00000442569:E170D	ENSP00000260323:E170D	E	+	3	2	UNC13C	52092902	0.991000	0.36638	0.997000	0.53966	0.971000	0.66376	0.368000	0.20399	-0.119000	0.11830	0.655000	0.94253	GAG		0.473	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		25	70	1	0	1.43e-11	1.86e-11	25	70				
MYZAP	100820829	broad.mit.edu	37	15	57929944	57929944	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:57929944G>A	ENST00000267853.5	+	9	1079	c.985G>A	c.(985-987)Ggg>Agg	p.G329R	GCOM1_ENST00000396180.1_Missense_Mutation_p.G298R|MYZAP_ENST00000380565.4_Missense_Mutation_p.G329R|GCOM1_ENST00000587652.1_Missense_Mutation_p.G329R|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000380560.2_Missense_Mutation_p.G260R|GCOM1_ENST00000380568.3_Missense_Mutation_p.G329R|GCOM1_ENST00000574161.1_Missense_Mutation_p.G329R|GCOM1_ENST00000572390.1_Missense_Mutation_p.G329R|GCOM1_ENST00000380569.2_Missense_Mutation_p.G329R|GCOM1_ENST00000380561.2_Missense_Mutation_p.G298R			P0CAP1	MYZAP_HUMAN	myocardial zonula adherens protein	329					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|I band (GO:0031674)											AGAAATGTCTGGGGAGTTAAC	0.383																																						uc002aei.2		NA																	0				ovary(1)	1						c.(985-987)GGG>AGG		GRINL1A upstream protein isoform 7							103.0	92.0	96.0					15																	57929944		2192	4292	6484	SO:0001583	missense	145781				intracellular signal transduction	extrinsic to internal side of plasma membrane|I band		g.chr15:57929944G>A	FJ970029		15q21.3	2012-10-05			ENSG00000263155	ENSG00000263155			43444	protein-coding gene	gene with protein product	"""myocardium-enriched zonula adherens protein"""	614071				20093627, 21992629, 22160502	Standard	NM_001018100		Approved	MYOZAP, Gup, Gup1, GCOM1		P0CAP1	OTTHUMG00000132453	ENST00000267853.5:c.985G>A	15.37:g.57929944G>A	ENSP00000267853:p.Gly329Arg					GCOM1_uc002aej.2_Missense_Mutation_p.G329R|GCOM1_uc002aek.2_RNA|GCOM1_uc002ael.2_RNA|GCOM1_uc002aem.2_Missense_Mutation_p.G329R|GCOM1_uc002aeq.2_RNA|GCOM1_uc002aen.2_RNA|GCOM1_uc010bfy.2_RNA|GCOM1_uc002aeo.2_Missense_Mutation_p.G329R|GCOM1_uc002aep.2_RNA|GCOM1_uc010bfx.2_RNA	p.G329R	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN			9	1104	+			329			Potential.		D2E9U7|Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5	Missense_Mutation	SNP	ENST00000267853.5	37	c.985G>A	CCDS10162.1	.	.	.	.	.	.	.	.	.	.	G	7.667	0.686093	0.14973	.	.	ENSG00000137878	ENST00000380569;ENST00000380561;ENST00000396180;ENST00000380560;ENST00000267853;ENST00000380565;ENST00000380568;ENST00000461709	T;T;T;T;T;T;T;T	0.29397	1.94;1.95;1.96;1.97;1.94;1.94;1.94;1.57	5.5	3.5	0.40072	.	0.625337	0.17535	N	0.170742	T	0.18593	0.0446	N	0.25647	0.755	0.22199	N	0.999292	B;B;B;B	0.16802	0.019;0.009;0.008;0.004	B;B;B;B	0.20184	0.028;0.008;0.028;0.014	T	0.20840	-1.0263	10	0.16896	T	0.51	-9.3781	7.2268	0.26020	0.0908:0.1697:0.7395:0.0	.	329;329;329;329	P0CAP1-2;P0CAP1-11;P0CAP1-4;P0CAP1	.;.;.;GCOM1_HUMAN	R	329;298;298;260;329;329;329;44	ENSP00000369943:G329R;ENSP00000369935:G298R;ENSP00000379483:G298R;ENSP00000369933:G260R;ENSP00000267853:G329R;ENSP00000369939:G329R;ENSP00000369942:G329R;ENSP00000431396:G44R	ENSP00000267853:G329R	G	+	1	0	GCOM1	55717236	0.947000	0.32204	0.156000	0.22583	0.623000	0.37688	2.802000	0.47916	1.309000	0.44985	0.655000	0.94253	GGG		0.383	MYZAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255716.2	NM_001018100		6	9	0	0	0	0	6	9				
NOX5	79400	broad.mit.edu	37	15	69347810	69347810	+	Silent	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:69347810C>T	ENST00000388866.3	+	15	2177	c.2136C>T	c.(2134-2136)cgC>cgT	p.R712R	NOX5_ENST00000260364.5_Silent_p.R694R|NOX5_ENST00000448182.3_Silent_p.R666R|NOX5_ENST00000455873.3_Silent_p.R677R|NOX5_ENST00000530406.2_Silent_p.R684R	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	712					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						TGCAGACGCGCACCCAGCCTG	0.607																																						uc002ars.1		NA																	0				breast(1)|pancreas(1)	2						c.(2134-2136)CGC>CGT		NADPH oxidase, EF-hand calcium binding domain 5							42.0	43.0	42.0					15																	69347810		2200	4298	6498	SO:0001819	synonymous_variant	79400				angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	g.chr15:69347810C>T	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"""EF-hand domain containing"""	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.2136C>T	15.37:g.69347810C>T						NOX5_uc002arp.1_Silent_p.R694R|NOX5_uc002arq.1_Silent_p.R666R|NOX5_uc010bid.1_Silent_p.R677R|NOX5_uc002arr.1_Silent_p.R684R|NOX5_uc010bie.1_Silent_p.R512R|NOX5_uc010bif.1_RNA	p.R712R	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN			15	2156	+			712			Extracellular (Potential).		B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Silent	SNP	ENST00000388866.3	37	c.2136C>T	CCDS32276.2																																																																																				0.607	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		18	27	0	0	0	0	18	27				
ISL2	64843	broad.mit.edu	37	15	76630854	76630854	+	Splice_Site	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:76630854C>A	ENST00000290759.4	+	3	670	c.510C>A	c.(508-510)ccC>ccA	p.P170P	RP11-685G9.2_ENST00000559539.1_RNA	NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN	ISL LIM homeobox 2	170					negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|peripheral nervous system neuron development (GO:0048935)|regulation of transcription, DNA-templated (GO:0006355)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord motor neuron cell fate specification (GO:0021520)|visceral motor neuron differentiation (GO:0021524)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						TGCATCTGCCCGGTAAGCGCG	0.726																																					GBM(97;953 1391 16164 31496 36951)	uc002bbw.1		NA																	0					0						c.(508-510)CCC>CCA		ISL LIM homeobox 2							22.0	28.0	26.0					15																	76630854		1283	2551	3834	SO:0001630	splice_region_variant	64843					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:76630854C>A	AK001022	CCDS10290.1	15q24.3	2012-03-09	2007-07-13		ENSG00000159556	ENSG00000159556		"""Homeoboxes / LIM class"""	18524	protein-coding gene	gene with protein product		609481	"""ISL2 transcription factor, LIM/homeodomain, (islet-2)"""				Standard	NM_145805		Approved	FLJ10160	uc002bbw.1	Q96A47	OTTHUMG00000143723	ENST00000290759.4:c.511+1C>A	15.37:g.76630854C>A							p.P170P	NM_145805	NP_665804	Q96A47	ISL2_HUMAN			3	588	+			170					B3KM37	Silent	SNP	ENST00000290759.4	37	c.510C>A	CCDS10290.1																																																																																				0.726	ISL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289779.1		Silent	18	22	1	0	3.53e-06	4.11e-06	18	22				
IREB2	3658	broad.mit.edu	37	15	78758820	78758820	+	Silent	SNP	A	A	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:78758820A>G	ENST00000258886.8	+	5	767	c.618A>G	c.(616-618)caA>caG	p.Q206Q	IREB2_ENST00000560440.1_Silent_p.Q206Q|IREB2_ENST00000559427.1_3'UTR	NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	206					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TTCATTTGCAACCAGTGCCTG	0.383																																					NSCLC(200;764 2208 35157 49871 50830)	uc002bdr.2		NA																	0					0						c.(616-618)CAA>CAG		iron-responsive element binding protein 2							111.0	107.0	108.0					15																	78758820		2196	4293	6489	SO:0001819	synonymous_variant	3658						4 iron, 4 sulfur cluster binding|metal ion binding|protein binding	g.chr15:78758820A>G	M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.618A>G	15.37:g.78758820A>G						IREB2_uc010unb.1_5'UTR|IREB2_uc002bdq.2_Silent_p.Q206Q	p.Q206Q	NM_004136	NP_004127	P48200	IREB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.232)	5	780	+			206					A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Silent	SNP	ENST00000258886.8	37	c.618A>G	CCDS10302.1																																																																																				0.383	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290109.3	NM_004136		23	51	0	0	0	0	23	51				
IREB2	3658	broad.mit.edu	37	15	78765606	78765606	+	Silent	SNP	A	A	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:78765606A>G	ENST00000258886.8	+	8	1055	c.906A>G	c.(904-906)gaA>gaG	p.E302E	IREB2_ENST00000560440.1_Silent_p.E302E	NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	302					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TTGAAACAGAAGCAGTTATGC	0.388																																					NSCLC(200;764 2208 35157 49871 50830)	uc002bdr.2		NA																	0					0						c.(904-906)GAA>GAG		iron-responsive element binding protein 2							279.0	242.0	255.0					15																	78765606		2196	4293	6489	SO:0001819	synonymous_variant	3658						4 iron, 4 sulfur cluster binding|metal ion binding|protein binding	g.chr15:78765606A>G	M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.906A>G	15.37:g.78765606A>G						IREB2_uc010unb.1_Silent_p.E52E|IREB2_uc002bdq.2_Silent_p.E302E	p.E302E	NM_004136	NP_004127	P48200	IREB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.232)	8	1068	+			302					A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Silent	SNP	ENST00000258886.8	37	c.906A>G	CCDS10302.1																																																																																				0.388	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290109.3	NM_004136		50	117	0	0	0	0	50	117				
ADAMTS7	11173	broad.mit.edu	37	15	79059741	79059741	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:79059741C>A	ENST00000388820.4	-	18	3049	c.2839G>T	c.(2839-2841)Gct>Tct	p.A947S	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	947	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TTCCCCACAGCCCAGGTGGCC	0.652																																						uc002bej.3		NA																	0					0						c.(2839-2841)GCT>TCT		ADAM metallopeptidase with thrombospondin type 1							34.0	39.0	37.0					15																	79059741		2195	4292	6487	SO:0001583	missense	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79059741C>A	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.2839G>T	15.37:g.79059741C>A	ENSP00000373472:p.Ala947Ser					ADAMTS7_uc010und.1_Intron	p.A947S	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN			18	3050	-			947			TSP type-1 4.		Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	c.2839G>T	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	C	7.419	0.636257	0.14386	.	.	ENSG00000136378	ENST00000388820	T	0.18016	2.24	4.3	4.3	0.51218	.	0.647228	0.15086	N	0.281388	T	0.14874	0.0359	L	0.35542	1.07	0.29774	N	0.83451	B	0.25105	0.118	B	0.36092	0.217	T	0.16217	-1.0410	10	0.07030	T	0.85	.	11.7094	0.51616	0.0:0.8205:0.1795:0.0	.	947	Q9UKP4	ATS7_HUMAN	S	947	ENSP00000373472:A947S	ENSP00000373472:A947S	A	-	1	0	ADAMTS7	76846796	0.992000	0.36948	0.991000	0.47740	0.167000	0.22549	2.376000	0.44292	2.086000	0.62901	0.478000	0.44815	GCT		0.652	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		16	19	1	0	9.17e-09	1.14e-08	16	19				
ZFAND6	54469	broad.mit.edu	37	15	80423525	80423525	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:80423525C>T	ENST00000261749.6	+	6	790	c.368C>T	c.(367-369)tCa>tTa	p.S123L	ZFAND6_ENST00000561060.1_Missense_Mutation_p.S123L|ZFAND6_ENST00000558688.1_Missense_Mutation_p.S123L|ZFAND6_ENST00000559775.1_Missense_Mutation_p.S123L|ZFAND6_ENST00000559835.1_Missense_Mutation_p.S123L|ZFAND6_ENST00000558087.1_Missense_Mutation_p.S123L|ZFAND6_ENST00000558494.1_Missense_Mutation_p.S123L|ZFAND6_ENST00000559157.1_Missense_Mutation_p.S111L	NM_001242913.1|NM_001242914.1|NM_019006.3	NP_001229842.1|NP_001229843.1|NP_061879.2	Q6FIF0	ZFAN6_HUMAN	zinc finger, AN1-type domain 6	123					apoptotic process (GO:0006915)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of apoptotic process (GO:0043066)|protein targeting to peroxisome (GO:0006625)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|polyubiquitin binding (GO:0031593)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						TTGTTAGCTTCAGTATCAGAC	0.393																																						uc002bfe.1		NA																	0					0						c.(367-369)TCA>TTA		zinc finger, AN1-type domain 6							91.0	90.0	91.0					15																	80423525		2203	4300	6503	SO:0001583	missense	54469						DNA binding|zinc ion binding	g.chr15:80423525C>T	BC005283	CCDS10313.1, CCDS58395.1	15q24.3	2013-01-09	2006-07-07	2006-07-07	ENSG00000086666	ENSG00000086666		"""Zinc fingers, AN1-type domain containing"""	30164	protein-coding gene	gene with protein product	"""protein associated with PRK1"""	610183	"""zinc finger, A20 domain containing 3"""	ZA20D3		11054541	Standard	NM_019006		Approved	ZFAND5B, AWP1	uc002bff.2	Q6FIF0	OTTHUMG00000144169	ENST00000261749.6:c.368C>T	15.37:g.80423525C>T	ENSP00000261749:p.Ser123Leu					ZFAND6_uc002bff.1_Missense_Mutation_p.S123L|ZFAND6_uc002bfg.1_Missense_Mutation_p.S111L|ZFAND6_uc002bfh.1_Missense_Mutation_p.S123L|ZFAND6_uc002bfi.1_Missense_Mutation_p.S123L	p.S123L	NM_019006	NP_061879	Q6FIF0	ZFAN6_HUMAN			6	679	+			123					D3DW92|D3DW94|O95792|Q9BQF7|Q9GZY3	Missense_Mutation	SNP	ENST00000261749.6	37	c.368C>T	CCDS10313.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.807801	0.70797	.	.	ENSG00000086666	ENST00000261749	.	.	.	5.28	5.28	0.74379	.	0.726619	0.12729	N	0.444039	T	0.54351	0.1853	L	0.50333	1.59	0.58432	D	0.999991	B;P	0.43750	0.096;0.816	B;B	0.36378	0.072;0.223	T	0.59958	-0.7356	9	0.46703	T	0.11	.	18.9212	0.92526	0.0:1.0:0.0:0.0	.	111;123	Q6FIF0-2;Q6FIF0	.;ZFAN6_HUMAN	L	123	.	ENSP00000261749:S123L	S	+	2	0	ZFAND6	78210580	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.723000	0.47277	2.465000	0.83290	0.591000	0.81541	TCA		0.393	ZFAND6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291368.1	NM_019006		9	94	0	0	0	0	9	94				
ZNF592	9640	broad.mit.edu	37	15	85326320	85326320	+	Silent	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:85326320C>T	ENST00000560079.2	+	4	702	c.414C>T	c.(412-414)ttC>ttT	p.F138F	ZNF592_ENST00000299927.3_Silent_p.F138F	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	138					cell death (GO:0008219)|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(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TACCCACCTTCAACCAGTTCA	0.478																																						uc002bld.2		NA																	0				ovary(4)|skin(2)	6						c.(412-414)TTC>TTT		zinc finger protein 592							102.0	109.0	107.0					15																	85326320		2203	4299	6502	SO:0001819	synonymous_variant	9640				cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:85326320C>T	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"""Zinc fingers, C2H2-type"""	28986	protein-coding gene	gene with protein product		613624	"""spinocerebellar ataxia, autosomal recessive 5"""	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.414C>T	15.37:g.85326320C>T						ZNF592_uc010upb.1_RNA	p.F138F	NM_014630	NP_055445	Q92610	ZN592_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		4	750	+			138					Q2M1T2|Q504Y9	Silent	SNP	ENST00000560079.2	37	c.414C>T	CCDS32317.1																																																																																				0.478	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630		42	139	0	0	0	0	42	139				
SLC28A1	9154	broad.mit.edu	37	15	85431063	85431063	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:85431063G>T	ENST00000286749.3	+	2	162	c.72G>T	c.(70-72)atG>atT	p.M24I	SLC28A1_ENST00000537624.1_Missense_Mutation_p.M24I|SLC28A1_ENST00000394573.1_Missense_Mutation_p.M24I|SLC28A1_ENST00000537703.1_5'UTR|SLC28A1_ENST00000537216.1_Missense_Mutation_p.M24I|SLC28A1_ENST00000538177.1_Missense_Mutation_p.M24I|SLC28A1_ENST00000338602.2_Missense_Mutation_p.M24I			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	24					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	TGGAGAACATGGGGGCTGATT	0.567																																						uc002blg.2		NA																	0				skin(2)|ovary(1)	3						c.(70-72)ATG>ATT		solute carrier family 28, member 1 isoform 1							172.0	155.0	161.0					15																	85431063		2203	4299	6502	SO:0001583	missense	9154				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	g.chr15:85431063G>T	U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"""Solute carriers"""	11001	protein-coding gene	gene with protein product		606207	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"""			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.72G>T	15.37:g.85431063G>T	ENSP00000286749:p.Met24Ile					SLC28A1_uc010upd.1_5'UTR|SLC28A1_uc010bnb.2_Missense_Mutation_p.M24I|SLC28A1_uc010upe.1_Missense_Mutation_p.M24I|SLC28A1_uc010upf.1_Missense_Mutation_p.M24I|SLC28A1_uc010upg.1_Missense_Mutation_p.M24I|SLC28A1_uc002blf.2_Missense_Mutation_p.M24I	p.M24I	NM_004213	NP_004204	O00337	S28A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		3	274	+			24					A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Missense_Mutation	SNP	ENST00000286749.3	37	c.72G>T	CCDS10334.1	.	.	.	.	.	.	.	.	.	.	G	3.608	-0.080238	0.07141	.	.	ENSG00000156222	ENST00000338602;ENST00000537216;ENST00000538177;ENST00000537624;ENST00000286749;ENST00000394573	T;T;T;T;T;T	0.11712	2.75;4.6;4.33;4.77;4.78;4.78	4.21	2.33	0.28932	.	1.970140	0.02407	N	0.081208	T	0.12092	0.0294	L	0.44542	1.39	0.26713	N	0.970936	B;B;B;B;P	0.38370	0.078;0.127;0.444;0.045;0.628	B;B;B;B;B	0.36922	0.035;0.076;0.085;0.035;0.236	T	0.26189	-1.0110	10	0.38643	T	0.18	.	6.6962	0.23201	0.2165:0.0:0.7835:0.0	.	24;24;24;24;24	B7Z533;F5H560;B7Z3L6;O00337;O00337-2	.;.;.;S28A1_HUMAN;.	I	24	ENSP00000341629:M24I;ENSP00000440546:M24I;ENSP00000443752:M24I;ENSP00000444700:M24I;ENSP00000286749:M24I;ENSP00000378074:M24I	ENSP00000286749:M24I	M	+	3	0	SLC28A1	83232067	0.588000	0.26799	0.055000	0.19348	0.005000	0.04900	0.977000	0.29475	0.536000	0.28733	0.563000	0.77884	ATG		0.567	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2			31	50	1	0	1.83e-34	2.8e-34	31	50				
RHCG	51458	broad.mit.edu	37	15	90019999	90019999	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:90019999G>T	ENST00000268122.4	-	9	1366	c.1298C>A	c.(1297-1299)gCg>gAg	p.A433E	RHCG_ENST00000544600.1_Missense_Mutation_p.A433E	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	433					amine transport (GO:0015837)|ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|cellular ion homeostasis (GO:0006873)|epithelial cell differentiation (GO:0030855)|homeostatic process (GO:0042592)|regulation of pH (GO:0006885)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					CCAGTAGACCGCATCCTCAAA	0.562																																						uc002bnz.2		NA																	0				kidney(1)	1						c.(1297-1299)GCG>GAG		Rh family, C glycoprotein							106.0	96.0	100.0					15																	90019999		2200	4299	6499	SO:0001583	missense	51458				amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr15:90019999G>T	AF081497	CCDS10351.1	15q25	2013-05-22	2006-02-23		ENSG00000140519	ENSG00000140519		"""Solute carriers"""	18140	protein-coding gene	gene with protein product		605381	"""chromosome 15 open reading frame 6"", ""Rhesus blood group, C glycoprotein"""	C15orf6		10852913	Standard	NM_016321		Approved	RHGK, PDRC2, SLC42A3	uc002bnz.2	Q9UBD6	OTTHUMG00000149647	ENST00000268122.4:c.1298C>A	15.37:g.90019999G>T	ENSP00000268122:p.Ala433Glu					RHCG_uc002bny.2_Missense_Mutation_p.A204E|RHCG_uc002boa.2_RNA	p.A433E	NM_016321	NP_057405	Q9UBD6	RHCG_HUMAN			9	1322	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		433			Cytoplasmic (Potential).		A8K4D4|Q6X3Y4	Missense_Mutation	SNP	ENST00000268122.4	37	c.1298C>A	CCDS10351.1	.	.	.	.	.	.	.	.	.	.	G	2.192	-0.385091	0.04966	.	.	ENSG00000140519	ENST00000544600;ENST00000268122;ENST00000536247	T;T	0.18960	2.18;2.18	5.69	-4.56	0.03431	Ammonium transporter AmtB-like (1);	0.504029	0.22998	N	0.053114	T	0.06462	0.0166	N	0.01771	-0.73	0.09310	N	1	B	0.09022	0.002	B	0.14023	0.01	T	0.35624	-0.9781	9	.	.	.	0.1883	14.5362	0.67963	0.0:0.0785:0.1535:0.768	.	433	Q9UBD6	RHCG_HUMAN	E	433;433;424	ENSP00000438123:A433E;ENSP00000268122:A433E	.	A	-	2	0	RHCG	87821003	0.001000	0.12720	0.000000	0.03702	0.905000	0.53344	1.178000	0.31981	-0.539000	0.06273	-0.181000	0.13052	GCG		0.562	RHCG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000312855.2	NM_016321		26	50	1	0	2.09e-25	3.14e-25	26	50				
TELO2	9894	broad.mit.edu	37	16	1552736	1552736	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr16:1552736G>T	ENST00000262319.6	+	14	2023	c.1744G>T	c.(1744-1746)Gcc>Tcc	p.A582S	TELO2_ENST00000564507.1_3'UTR	NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	582					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				AGCCCTGGTGGCCGTCACGGT	0.672																																						uc002cly.2		NA																	0					0						c.(1744-1746)GCC>TCC		TEL2, telomere maintenance 2, homolog							89.0	94.0	93.0					16																	1552736		2199	4300	6499	SO:0001583	missense	9894					chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding	g.chr16:1552736G>T	AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"""TEL2, telomere maintenance 2, homolog (S. cerevisiae)"""			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.1744G>T	16.37:g.1552736G>T	ENSP00000262319:p.Ala582Ser						p.A582S	NM_016111	NP_057195	Q9Y4R8	TELO2_HUMAN			14	2035	+		Hepatocellular(780;0.219)	582					D3DU73|O75168|Q7LDV4|Q9BR21	Missense_Mutation	SNP	ENST00000262319.6	37	c.1744G>T	CCDS32363.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.227485	0.39399	.	.	ENSG00000100726	ENST00000262319	T	0.24723	1.84	5.3	3.27	0.37495	Telomere length regulation protein, conserved domain (1);	0.097447	0.64402	D	0.000001	T	0.47507	0.1449	M	0.71036	2.16	0.53005	D	0.999961	D	0.76494	0.999	D	0.71656	0.974	T	0.39722	-0.9600	10	0.35671	T	0.21	-20.3494	14.5258	0.67887	0.0:0.2799:0.7201:0.0	.	582	Q9Y4R8	TELO2_HUMAN	S	582	ENSP00000262319:A582S	ENSP00000262319:A582S	A	+	1	0	TELO2	1492737	1.000000	0.71417	0.046000	0.18839	0.010000	0.07245	2.991000	0.49409	0.593000	0.29745	-0.502000	0.04539	GCC		0.672	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103602.2	NM_016111		33	92	1	0	1.59e-26	2.39e-26	33	92				
ZNF200	7752	broad.mit.edu	37	16	3274518	3274518	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr16:3274518C>T	ENST00000431561.3	-	5	1174	c.562G>A	c.(562-564)Gat>Aat	p.D188N	AJ003147.9_ENST00000576468.1_RNA|ZNF200_ENST00000575948.1_Missense_Mutation_p.D187N|ZNF200_ENST00000414144.2_Missense_Mutation_p.D188N|ZNF200_ENST00000396871.4_Missense_Mutation_p.D187N|ZNF200_ENST00000396870.4_Missense_Mutation_p.D187N|ZNF200_ENST00000396868.3_Missense_Mutation_p.D187N	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	188					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						AAGGAAGAATCCATTTCATCA	0.398																																						uc002cuj.2		NA																	0					0						c.(562-564)GAT>AAT		zinc finger protein 200 isoform 1							117.0	115.0	116.0					16																	3274518		2197	4300	6497	SO:0001583	missense	7752				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr16:3274518C>T	AF060866	CCDS10497.1, CCDS42112.1, CCDS45395.1	16p13.3	2013-01-08			ENSG00000010539	ENSG00000010539		"""Zinc fingers, C2H2-type"""	12993	protein-coding gene	gene with protein product		603231				9288094, 9787081	Standard	NM_003454		Approved		uc002cuk.2	P98182	OTTHUMG00000129317	ENST00000431561.3:c.562G>A	16.37:g.3274518C>T	ENSP00000395723:p.Asp188Asn					ZNF200_uc002cum.3_Missense_Mutation_p.D187N|ZNF200_uc010bti.2_Missense_Mutation_p.D187N|ZNF200_uc002cuk.2_Missense_Mutation_p.D188N|ZNF200_uc002cui.2_Missense_Mutation_p.D187N|ZNF200_uc002cul.3_Missense_Mutation_p.D187N	p.D188N	NM_003454	NP_003445	P98182	ZN200_HUMAN			5	1194	-			188					D3DUB7|D3DUB8|O15361|Q5XKM5|Q7Z5V1	Missense_Mutation	SNP	ENST00000431561.3	37	c.562G>A	CCDS10497.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.324730	0.41197	.	.	ENSG00000010539	ENST00000396870;ENST00000396868;ENST00000396871;ENST00000414144;ENST00000431561	T;T;T	0.06687	3.27;3.27;3.34	5.29	5.29	0.74685	.	0.161807	0.29040	N	0.013340	T	0.16471	0.0396	L	0.54323	1.7	0.25557	N	0.987028	P;P;D	0.53462	0.933;0.933;0.96	P;P;P	0.52856	0.518;0.518;0.711	T	0.06552	-1.0820	10	0.30854	T	0.27	-18.8939	14.2881	0.66258	0.0:1.0:0.0:0.0	.	187;188;187	D3DUB7;P98182;P98182-2	.;ZN200_HUMAN;.	N	188;187;187;187;188	ENSP00000380077:D187N;ENSP00000380080:D187N;ENSP00000395723:D188N	ENSP00000380077:D187N	D	-	1	0	ZNF200	3214519	0.001000	0.12720	0.752000	0.31206	0.317000	0.28152	0.645000	0.24782	2.750000	0.94351	0.455000	0.32223	GAT		0.398	ZNF200-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000437545.1			34	57	0	0	0	0	34	57				
RBFOX1	54715	broad.mit.edu	37	16	7102088	7102088	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr16:7102088G>A	ENST00000550418.1	+	4	1004	c.16G>A	c.(16-18)Gag>Aag	p.E6K	RBFOX1_ENST00000547372.1_Missense_Mutation_p.E49K|RBFOX1_ENST00000547427.1_3'UTR|RBFOX1_ENST00000553186.1_Missense_Mutation_p.E6K|RBFOX1_ENST00000547338.1_Missense_Mutation_p.E6K|RBFOX1_ENST00000552089.1_Missense_Mutation_p.E42K|RBFOX1_ENST00000422070.4_Missense_Mutation_p.E49K|RBFOX1_ENST00000535565.2_Missense_Mutation_p.E42K	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	6					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TTGTGAAAGAGAGCAGCTAAG	0.398																																					Ovarian(157;934 2567 15163 39509)	uc002cys.2		NA																	0					0						c.(16-18)GAG>AAG		ataxin 2-binding protein 1 isoform 4							83.0	81.0	82.0					16																	7102088		1846	4088	5934	SO:0001583	missense	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7102088G>A	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.16G>A	16.37:g.7102088G>A	ENSP00000450031:p.Glu6Lys					A2BP1_uc010buf.1_Missense_Mutation_p.E6K|A2BP1_uc002cyr.1_Missense_Mutation_p.E6K|A2BP1_uc002cyt.2_Missense_Mutation_p.E6K|A2BP1_uc010uxz.1_Missense_Mutation_p.E49K|A2BP1_uc010uya.1_Missense_Mutation_p.E42K|A2BP1_uc002cyv.1_Missense_Mutation_p.E6K|A2BP1_uc010uyb.1_Missense_Mutation_p.E6K	p.E6K	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)	4	1004	+		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)	6					Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	ENST00000550418.1	37	c.16G>A	CCDS55983.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.142961	0.37825	.	.	ENSG00000078328	ENST00000547605;ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000535565;ENST00000552089;ENST00000551752;ENST00000547338	T;T;T;T;T;T;T	0.30182	2.05;1.54;1.84;1.8;1.84;1.93;1.54	5.6	5.6	0.85130	.	.	.	.	.	T	0.12603	0.0306	N	0.08118	0	0.80722	D	1	P;B;B;B;B	0.36535	0.557;0.18;0.0;0.0;0.007	B;B;B;B;B	0.27796	0.083;0.023;0.0;0.0;0.007	T	0.14643	-1.0465	9	0.02654	T	1	.	15.1225	0.72457	0.0:0.0:1.0:0.0	.	42;49;6;6;49	F5H0M1;B7Z1U7;Q9NWB1-3;Q9NWB1;F8VZG9	.;.;.;RFOX1_HUMAN;.	K	6;6;6;49;49;42;42;6;6	ENSP00000450402:E6K;ENSP00000450031:E6K;ENSP00000447753:E6K;ENSP00000446842:E49K;ENSP00000391269:E49K;ENSP00000447281:E6K;ENSP00000447717:E6K	ENSP00000391269:E49K	E	+	1	0	RBFOX1	7042089	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.424000	0.66464	2.630000	0.89119	0.655000	0.94253	GAG		0.398	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		8	17	0	0	0	0	8	17				
GRIN2A	2903	broad.mit.edu	37	16	9923430	9923430	+	Silent	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr16:9923430G>T	ENST00000396573.2	-	10	2166	c.1857C>A	c.(1855-1857)gtC>gtA	p.V619V	GRIN2A_ENST00000404927.2_Silent_p.V619V|GRIN2A_ENST00000330684.3_Silent_p.V619V|GRIN2A_ENST00000562109.1_Silent_p.V619V|GRIN2A_ENST00000535259.1_Silent_p.V462V|GRIN2A_ENST00000396575.2_Silent_p.V619V	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	619					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TAGGATTCTGGACAGGCACGG	0.488																																						uc002czo.3		NA																	0				skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(1855-1857)GTC>GTA		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						107.0	93.0	98.0					16																	9923430		2197	4300	6497	SO:0001819	synonymous_variant	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9923430G>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.1857C>A	16.37:g.9923430G>T						GRIN2A_uc010uym.1_Silent_p.V619V|GRIN2A_uc010uyn.1_Silent_p.V462V|GRIN2A_uc002czr.3_Silent_p.V619V	p.V619V	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			9	2405	-			619			Cytoplasmic (Potential).		O00669|Q17RZ6	Silent	SNP	ENST00000396573.2	37	c.1857C>A	CCDS10539.1																																																																																				0.488	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			34	64	1	0	4.32e-19	6.17e-19	34	64				
GPR139	124274	broad.mit.edu	37	16	20043241	20043241	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr16:20043241C>T	ENST00000570682.1	-	2	1178	c.878G>A	c.(877-879)cGc>cAc	p.R293H		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	293					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TGCCATGGTGCGGAACCGCTT	0.512																																						uc002dgu.1		NA																	0				ovary(2)	2						c.(877-879)CGC>CAC		G protein-coupled receptor 139							112.0	110.0	111.0					16																	20043241		2203	4300	6503	SO:0001583	missense	124274					integral to membrane|plasma membrane		g.chr16:20043241C>T	AY255545	CCDS32398.1	16p13.11	2012-08-21						"""GPCR / Class A : Orphans"""	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.878G>A	16.37:g.20043241C>T	ENSP00000458791:p.Arg293His					GPR139_uc010vaw.1_Missense_Mutation_p.R200H	p.R293H	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN			2	1040	-			293			Cytoplasmic (Potential).		A8K5R9|Q86SP2|Q8TDU8	Missense_Mutation	SNP	ENST00000570682.1	37	c.878G>A	CCDS32398.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.543913	0.86022	.	.	ENSG00000180269	ENST00000326571	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.65407	0.2688	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70357	-0.4894	9	0.87932	D	0	-36.5487	18.4466	0.90686	0.0:1.0:0.0:0.0	.	293	Q6DWJ6	GP139_HUMAN	H	293	.	ENSP00000370779:R293H	R	-	2	0	GPR139	19950742	1.000000	0.71417	0.989000	0.46669	0.999000	0.98932	7.484000	0.81180	2.581000	0.87130	0.655000	0.94253	CGC		0.512	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	NM_001002911		51	98	0	0	0	0	51	98				
OTOA	146183	broad.mit.edu	37	16	21696600	21696600	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr16:21696600T>A	ENST00000286149.4	+	6	318	c.317T>A	c.(316-318)cTg>cAg	p.L106Q	OTOA_ENST00000388958.3_Missense_Mutation_p.L106Q|OTOA_ENST00000388956.4_Missense_Mutation_p.L27Q			Q7RTW8	OTOAN_HUMAN	otoancorin	106					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CCCCAGAAGCTGCTGGAGGAC	0.577																																						uc002djh.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(316-318)CTG>CAG		otoancorin isoform 1							60.0	57.0	58.0					16																	21696600		2199	4300	6499	SO:0001583	missense	146183				sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		g.chr16:21696600T>A	AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.317T>A	16.37:g.21696600T>A	ENSP00000286149:p.Leu106Gln					uc002diq.3_Intron|OTOA_uc010vbj.1_Missense_Mutation_p.L27Q	p.L106Q	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN		GBM - Glioblastoma multiforme(48;0.0414)	6	318	+			106					A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	ENST00000286149.4	37	c.317T>A		.	.	.	.	.	.	.	.	.	.	T	22.7	4.321942	0.81580	.	.	ENSG00000155719	ENST00000388958;ENST00000286149;ENST00000388956	T;T;T	0.19806	2.12;2.12;2.12	5.84	5.84	0.93424	.	0.190962	0.36101	N	0.002799	T	0.45397	0.1340	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.42015	-0.9476	10	0.87932	D	0	-9.3946	14.1823	0.65583	0.0:0.0:0.0:1.0	.	27;106	B3KWU3;E9PF51	.;.	Q	106;106;27	ENSP00000373610:L106Q;ENSP00000286149:L106Q;ENSP00000373608:L27Q	ENSP00000286149:L106Q	L	+	2	0	OTOA	21604101	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.407000	0.66363	2.228000	0.72767	0.533000	0.62120	CTG		0.577	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1			28	32	0	0	0	0	28	32				
EEF2K	29904	broad.mit.edu	37	16	22271832	22271832	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr16:22271832T>G	ENST00000263026.5	+	11	1755	c.1281T>G	c.(1279-1281)gaT>gaG	p.D427E		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	427					insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		GAGACCATGATCATCTAGACA	0.542																																					NSCLC(195;1411 2157 20319 27471 51856)	uc002dki.2		NA																	0				large_intestine(1)	1						c.(1279-1281)GAT>GAG		elongation factor-2 kinase							176.0	154.0	162.0					16																	22271832		2197	4300	6497	SO:0001583	missense	29904				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding	g.chr16:22271832T>G	U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.1281T>G	16.37:g.22271832T>G	ENSP00000263026:p.Asp427Glu					EEF2K_uc002dkh.2_RNA	p.D427E	NM_013302	NP_037434	O00418	EF2K_HUMAN		GBM - Glioblastoma multiforme(48;0.0223)	11	1766	+			427					Q8N588	Missense_Mutation	SNP	ENST00000263026.5	37	c.1281T>G	CCDS10604.1	.	.	.	.	.	.	.	.	.	.	T	9.968	1.224569	0.22457	.	.	ENSG00000103319	ENST00000263026	T	0.37915	1.17	5.65	1.26	0.21427	.	0.290368	0.39210	N	0.001435	T	0.18045	0.0433	L	0.27053	0.805	0.28665	N	0.905933	B	0.02656	0.0	B	0.01281	0.0	T	0.07309	-1.0779	10	0.26408	T	0.33	-10.3321	1.6048	0.02681	0.1379:0.3758:0.2691:0.2172	.	427	O00418	EF2K_HUMAN	E	427	ENSP00000263026:D427E	ENSP00000263026:D427E	D	+	3	2	EEF2K	22179333	0.008000	0.16893	0.927000	0.36925	0.988000	0.76386	-0.307000	0.08167	0.409000	0.25649	-0.242000	0.12053	GAT		0.542	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211580.2	NM_013302		60	91	0	0	0	0	60	91				
PALB2	79728	broad.mit.edu	37	16	23647270	23647270	+	Silent	SNP	A	A	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr16:23647270A>C	ENST00000261584.4	-	4	749	c.597T>G	c.(595-597)ctT>ctG	p.L199L		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	199	DNA-binding (with the preference D loop > dsDNA > ssDNA).|Interaction with BRCA1.|Interaction with RAD51.				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TAAGACTTAAAAGGTGAGTTC	0.378			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks																														uc002dlx.1		NA	yes	Rec		"""Fanconi anaemia N, breast cancer susceptibility """	16	16p12.1	79728	F|N|Mis	partner and localizer of BRCA2			"""L, O, E"""		Wilms tumor|medulloblastoma|AML ,breast			0				lung(3)|breast(3)|ovary(2)|skin(1)|kidney(1)|pancreas(1)	11						c.(595-597)CTT>CTG	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	partner and localizer of BRCA2							169.0	178.0	175.0					16																	23647270		2197	4300	6497	SO:0001819	synonymous_variant	79728	Fanconi_Anemia_type_N|Fanconi_Anemia|PALB2-associated_Familial_Breast_and_Pancreatic_Cancer|Pancreatic_Cancer_Familial_Clustering_of			double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	g.chr16:23647270A>C		CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"""Fanconi anemia, complementation groups"""	26144	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group N"""	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.597T>G	16.37:g.23647270A>C							p.L199L	NM_024675	NP_078951	Q86YC2	PALB2_HUMAN		GBM - Glioblastoma multiforme(48;0.0167)	4	797	-			199			Interaction with RAD51.|Interaction with BRCA1.		A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Silent	SNP	ENST00000261584.4	37	c.597T>G	CCDS32406.1																																																																																				0.378	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	NM_024675		93	135	0	0	0	0	93	135				
TNRC6A	27327	broad.mit.edu	37	16	24800997	24800997	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr16:24800997G>C	ENST00000395799.3	+	6	1163	c.1034G>C	c.(1033-1035)tGg>tCg	p.W345S	TNRC6A_ENST00000315183.7_Missense_Mutation_p.W345S	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	345	Interaction with argonaute family proteins.|Ser-rich.|Sufficient for interaction with AGO1, AGO3 and AGO4.|Sufficient for interaction with AGO2.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		ATGAATGCTTGGGGCACTGTA	0.438																																						uc002dmm.2		NA																	0				ovary(2)	2						c.(1033-1035)TGG>TCG		trinucleotide repeat containing 6A							80.0	82.0	81.0					16																	24800997		2197	4300	6497	SO:0001583	missense	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24800997G>C	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.1034G>C	16.37:g.24800997G>C	ENSP00000379144:p.Trp345Ser					TNRC6A_uc010bxs.2_Missense_Mutation_p.W92S|TNRC6A_uc010vcc.1_Missense_Mutation_p.W92S|TNRC6A_uc002dmn.2_Missense_Mutation_p.W92S|TNRC6A_uc002dmo.2_Missense_Mutation_p.W92S	p.W345S	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	6	1148	+			345	W->A: Does not impair interaction with EIF2C2; when associated with A-313; A- 370; A-420 and A-483.		Sufficient for interaction with EIF2C2.|Sufficient for interaction with EIF2C1, EIF2C3 and EIF2C4.|Sufficient for interaction with EIF2C2.|Ser-rich.|Sufficient for interaction with EIF2C2.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	c.1034G>C	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	G	16.18	3.051515	0.55218	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.13901	2.55;2.55	5.84	5.84	0.93424	.	0.432554	0.27821	N	0.017716	T	0.39708	0.1088	M	0.76574	2.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.998;0.998;0.996	T	0.02345	-1.1173	10	0.23302	T	0.38	-3.387	20.1393	0.98055	0.0:0.0:1.0:0.0	.	92;345;345	Q8NDV7-2;Q8NDV7-6;Q8NDV7	.;.;TNR6A_HUMAN	S	345	ENSP00000326900:W345S;ENSP00000379144:W345S	ENSP00000326900:W345S	W	+	2	0	TNRC6A	24708498	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.045000	0.93812	2.759000	0.94783	0.563000	0.77884	TGG		0.438	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		45	101	0	0	0	0	45	101				
C16orf93	90835	broad.mit.edu	37	16	30770417	30770417	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr16:30770417C>T	ENST00000543610.1	-	8	1694	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K	C16orf93_ENST00000541260.1_Missense_Mutation_p.E310K|RNF40_ENST00000324685.6_5'Flank|PHKG2_ENST00000424889.3_Intron|PHKG2_ENST00000563588.1_3'UTR	NM_001014979.2	NP_001014979.2	A1A4V9	CP093_HUMAN	chromosome 16 open reading frame 93	245										breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						TTGCTTTCTTCTTTCTCTGCA	0.597																																						uc002dzm.2		NA																	0					0						c.(733-735)GAA>AAA		hypothetical protein LOC90835							173.0	164.0	167.0					16																	30770417		2197	4300	6497	SO:0001583	missense	90835							g.chr16:30770417C>T	BC042548	CCDS32434.1, CCDS32434.2, CCDS55993.1	16p11.2	2012-10-10			ENSG00000196118	ENSG00000196118			28078	protein-coding gene	gene with protein product							Standard	NM_001195620		Approved	MGC104706	uc002dzm.3	A1A4V9	OTTHUMG00000167926	ENST00000543610.1:c.733G>A	16.37:g.30770417C>T	ENSP00000437532:p.Glu245Lys					C16orf93_uc002dzn.2_Missense_Mutation_p.E310K|C16orf93_uc002dzo.2_Missense_Mutation_p.E208K	p.E245K	NM_001014979	NP_001014979	A1A4V9	CP093_HUMAN			8	1064	-			245					A1A4V8|F5GX13|Q569G2	Missense_Mutation	SNP	ENST00000543610.1	37	c.733G>A	CCDS32434.2	.	.	.	.	.	.	.	.	.	.	C	19.38	3.817299	0.70912	.	.	ENSG00000196118	ENST00000354963;ENST00000543610	.	.	.	4.6	4.6	0.57074	.	0.534639	0.18363	N	0.143520	T	0.48223	0.1488	N	0.24115	0.695	0.80722	D	1	P;D;P	0.54047	0.72;0.964;0.93	B;P;P	0.52823	0.423;0.71;0.619	T	0.23868	-1.0176	9	0.22706	T	0.39	-0.5489	13.1047	0.59241	0.0:1.0:0.0:0.0	.	208;17;245	A1A4V9-2;A1A4V9-3;A1A4V9	.;.;CP093_HUMAN	K	208;245	.	ENSP00000347050:E208K	E	-	1	0	C16orf93	30677918	1.000000	0.71417	0.981000	0.43875	0.739000	0.42172	3.533000	0.53561	2.554000	0.86153	0.655000	0.94253	GAA		0.597	C16orf93-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397089.1	NM_001014979		163	144	0	0	0	0	163	144				
C16orf93	90835	broad.mit.edu	37	16	30770423	30770423	+	Splice_Site	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr16:30770423C>T	ENST00000543610.1	-	8	1689		c.e8-1		C16orf93_ENST00000541260.1_Splice_Site|RNF40_ENST00000324685.6_5'Flank|PHKG2_ENST00000424889.3_Intron|PHKG2_ENST00000563588.1_3'UTR	NM_001014979.2	NP_001014979.2	A1A4V9	CP093_HUMAN	chromosome 16 open reading frame 93											breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						TCTTCTTTCTCTGCAAACCAG	0.587																																						uc002dzm.2		NA																	0					0						c.e8-1		hypothetical protein LOC90835							157.0	151.0	153.0					16																	30770423		2197	4300	6497	SO:0001630	splice_region_variant	90835							g.chr16:30770423C>T	BC042548	CCDS32434.1, CCDS32434.2, CCDS55993.1	16p11.2	2012-10-10			ENSG00000196118	ENSG00000196118			28078	protein-coding gene	gene with protein product							Standard	NM_001195620		Approved	MGC104706	uc002dzm.3	A1A4V9	OTTHUMG00000167926	ENST00000543610.1:c.728-1G>A	16.37:g.30770423C>T						C16orf93_uc002dzn.2_Splice_Site_p.E308_splice|C16orf93_uc002dzo.2_Splice_Site_p.E206_splice	p.E243_splice	NM_001014979	NP_001014979	A1A4V9	CP093_HUMAN			8	1059	-								A1A4V8|F5GX13|Q569G2	Splice_Site	SNP	ENST00000543610.1	37	c.728_splice	CCDS32434.2	.	.	.	.	.	.	.	.	.	.	C	16.77	3.215598	0.58452	.	.	ENSG00000196118	ENST00000354963;ENST00000543610	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6877	0.62526	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C16orf93	30677924	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	3.533000	0.53561	2.683000	0.91414	0.655000	0.94253	.		0.587	C16orf93-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397089.1	NM_001014979	Intron	148	139	0	0	0	0	148	139				
C16orf93	90835	broad.mit.edu	37	16	30771764	30771764	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr16:30771764C>G	ENST00000543610.1	-	4	1271	c.310G>C	c.(310-312)Gag>Cag	p.E104Q	C16orf93_ENST00000541260.1_Missense_Mutation_p.E104Q|RNF40_ENST00000324685.6_5'Flank|PHKG2_ENST00000563588.1_3'UTR|C16orf93_ENST00000545825.1_Missense_Mutation_p.E104Q|RNF40_ENST00000357890.5_5'Flank|RNF40_ENST00000402121.3_5'Flank|RNF40_ENST00000563683.1_5'Flank	NM_001014979.2	NP_001014979.2	A1A4V9	CP093_HUMAN	chromosome 16 open reading frame 93	104										breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						TCCAGCAGCTCAGCCAGCACC	0.597																																						uc002dzm.2		NA																	0					0						c.(310-312)GAG>CAG		hypothetical protein LOC90835							58.0	61.0	60.0					16																	30771764		2197	4300	6497	SO:0001583	missense	90835							g.chr16:30771764C>G	BC042548	CCDS32434.1, CCDS32434.2, CCDS55993.1	16p11.2	2012-10-10			ENSG00000196118	ENSG00000196118			28078	protein-coding gene	gene with protein product							Standard	NM_001195620		Approved	MGC104706	uc002dzm.3	A1A4V9	OTTHUMG00000167926	ENST00000543610.1:c.310G>C	16.37:g.30771764C>G	ENSP00000437532:p.Glu104Gln					C16orf93_uc002dzn.2_Missense_Mutation_p.E104Q|C16orf93_uc002dzo.2_Missense_Mutation_p.E67Q|C16orf93_uc002dzp.2_Missense_Mutation_p.E104Q|RNF40_uc002dzq.2_5'Flank|RNF40_uc010caa.2_5'Flank|RNF40_uc010cab.2_5'Flank|RNF40_uc010vfa.1_5'Flank|RNF40_uc002dzr.2_5'Flank|RNF40_uc010vfb.1_5'Flank	p.E104Q	NM_001014979	NP_001014979	A1A4V9	CP093_HUMAN			4	641	-			104					A1A4V8|F5GX13|Q569G2	Missense_Mutation	SNP	ENST00000543610.1	37	c.310G>C	CCDS32434.2	.	.	.	.	.	.	.	.	.	.	C	8.706	0.910951	0.17833	.	.	ENSG00000196118	ENST00000354963;ENST00000543610;ENST00000545825	.	.	.	4.48	1.45	0.22620	.	0.640793	0.15373	N	0.265742	T	0.22742	0.0549	N	0.16903	0.455	0.24589	N	0.993835	B;B;B	0.22909	0.046;0.077;0.077	B;B;B	0.21151	0.033;0.025;0.017	T	0.14727	-1.0462	9	0.34782	T	0.22	-6.4157	5.7342	0.18057	0.0:0.5233:0.3039:0.1728	.	104;67;104	F5GX13;A1A4V9-2;A1A4V9	.;.;CP093_HUMAN	Q	67;104;104	.	ENSP00000347050:E67Q	E	-	1	0	C16orf93	30679265	0.006000	0.16342	0.905000	0.35620	0.424000	0.31475	0.100000	0.15231	0.165000	0.19558	0.462000	0.41574	GAG		0.597	C16orf93-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397089.1	NM_001014979		33	40	0	0	0	0	33	40				
PRSS8	5652	broad.mit.edu	37	16	31143906	31143906	+	Silent	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr16:31143906C>T	ENST00000317508.6	-	5	812	c.549G>A	c.(547-549)ctG>ctA	p.L183L	RP11-388M20.2_ENST00000563605.1_RNA|PRSS8_ENST00000568261.1_Silent_p.L129L	NM_002773.3	NP_002764.1	Q16651	PRSS8_HUMAN	protease, serine, 8	183	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				positive regulation of sodium ion transport (GO:0010765)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	8						GCTTGGGCGTCAGGAGGCTCA	0.612																																						uc002ebc.3		NA																	0					0						c.(547-549)CTG>CTA		prostasin preproprotein							67.0	77.0	73.0					16																	31143906		2093	4221	6314	SO:0001819	synonymous_variant	5652				proteolysis	extracellular space|integral to membrane|plasma membrane	serine-type endopeptidase activity	g.chr16:31143906C>T	U33446	CCDS45469.1	16p11.2	2010-05-07	2007-02-21			ENSG00000052344		"""Serine peptidases / Serine peptidases"""	9491	protein-coding gene	gene with protein product	"""prostasin"""	600823				8838796, 7768952	Standard	NM_002773		Approved		uc002ebc.4	Q16651		ENST00000317508.6:c.549G>A	16.37:g.31143906C>T						PRSS8_uc010vfe.1_Silent_p.L129L	p.L183L	NM_002773	NP_002764	Q16651	PRSS8_HUMAN			5	881	-			183			Peptidase S1.		B4DWP2|Q9UCA3	Silent	SNP	ENST00000317508.6	37	c.549G>A	CCDS45469.1																																																																																				0.612	PRSS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433536.1	NM_002773		37	40	0	0	0	0	37	40				
CDH1	999	broad.mit.edu	37	16	68842735	68842735	+	Missense_Mutation	SNP	G	G	A	rs201511530		TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr16:68842735G>A	ENST00000261769.5	+	5	862	c.671G>A	c.(670-672)cGc>cAc	p.R224H	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Missense_Mutation_p.R224H	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	224	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(2)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GATAGAGAACGCATTGCCACA	0.483			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													uc002ewg.1		NA	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	Mis|N|F|S	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""			E		gastric	lobular breast|gastric		2	Unknown(2)		breast(2)	breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243						c.(670-672)CGC>CAC		cadherin 1, type 1 preproprotein							71.0	66.0	68.0					16																	68842735		2198	4300	6498	SO:0001583	missense	999	Hereditary_Diffuse_Gastric_Cancer	Familial Cancer Database	HDGC	adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	g.chr16:68842735G>A	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.671G>A	16.37:g.68842735G>A	ENSP00000261769:p.Arg224His					CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.R224H	p.R224H	NM_004360	NP_004351	P12830	CADH1_HUMAN		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)	5	795	+		all_neural(199;0.0189)|Ovarian(137;0.0563)	224			Cadherin 1.|Extracellular (Potential).		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	ENST00000261769.5	37	c.671G>A	CCDS10869.1	.	.	.	.	.	.	.	.	.	.	G	3.560	-0.089870	0.07053	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	T;T	0.51574	0.7;0.7	5.78	-2.9	0.05648	Cadherin (4);Cadherin-like (1);	3.361860	0.00979	N	0.003359	T	0.28333	0.0700	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.23583	-1.0184	10	0.44086	T	0.13	.	8.0173	0.30389	0.2624:0.5772:0.0612:0.0992	.	224;224	Q9UII8;P12830	.;CADH1_HUMAN	H	224	ENSP00000261769:R224H;ENSP00000414946:R224H	ENSP00000261769:R224H	R	+	2	0	CDH1	67400236	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.299000	0.19138	-0.723000	0.04915	-0.238000	0.12139	CGC		0.483	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360		4	30	0	0	0	0	4	30				
ZBTB4	57659	broad.mit.edu	37	17	7366417	7366417	+	Silent	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:7366417C>A	ENST00000311403.4	-	4	2223	c.1884G>T	c.(1882-1884)ctG>ctT	p.L628L	ZBTB4_ENST00000380599.4_Silent_p.L628L	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	628	Glu-rich.				cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		cctcTCCGCTCAGCTCCCCAG	0.607																																						uc002ghc.3		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1882-1884)CTG>CTT		zinc finger and BTB domain containing 4							55.0	35.0	42.0					17																	7366417		2202	4300	6502	SO:0001819	synonymous_variant	57659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:7366417C>A	AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.1884G>T	17.37:g.7366417C>A						ZBTB4_uc002ghd.3_Silent_p.L628L	p.L628L	NM_001128833	NP_001122305	Q9P1Z0	ZBTB4_HUMAN		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)	4	2134	-		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)	628			Glu-rich.|Potential.		B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Silent	SNP	ENST00000311403.4	37	c.1884G>T	CCDS11107.1																																																																																				0.607	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226940.2	NM_020899		6	7	1	0	0.00307968	0.00328896	6	7				
TP53	7157	broad.mit.edu	37	17	7577569	7577569	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:7577569A>T	ENST00000269305.4	-	7	901	c.712T>A	c.(712-714)Tgt>Agt	p.C238S	TP53_ENST00000413465.2_Missense_Mutation_p.C238S|TP53_ENST00000420246.2_Missense_Mutation_p.C238S|TP53_ENST00000359597.4_Missense_Mutation_p.C238S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.C238S|TP53_ENST00000455263.2_Missense_Mutation_p.C238S	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	238	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C238R(14)|p.C238S(12)|p.0?(8)|p.?(5)|p.C238G(4)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.C238fs*2(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.C145G(1)|p.V225fs*23(1)|p.M237_C238insX(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.M237fs*1(1)|p.C238fs*9(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)	GAACTGTTACACATGTAGTTG	0.567		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		60	Substitution - Missense(31)|Deletion - In frame(9)|Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(5)|Insertion - Frameshift(1)|Insertion - In frame(1)	p.C238Y(47)|p.C238F(32)|p.C238S(18)|p.C238R(14)|p.0?(7)|p.C238*(4)|p.C238W(2)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.M237_C238insX(1)|p.C238_N239insX(1)|p.C238_M246delCNSSCMGGM(1)|p.C238fs*9(1)|p.M237_N239delMCN(1)|p.C238del(1)|p.C238G(1)|p.C238fs*21(1)|p.C238C(1)|p.M237fs*1(1)|p.H233fs*6(1)|p.H233_C242del10(1)	ovary(11)|liver(7)|biliary_tract(6)|bone(5)|upper_aerodigestive_tract(4)|large_intestine(4)|stomach(3)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|lung(2)|skin(2)|prostate(2)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|oesophagus(1)|pancreas(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM025271|CM056070	TP53	M		c.(712-714)TGT>AGT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							131.0	103.0	112.0					17																	7577569		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577569A>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.712T>A	17.37:g.7577569A>T	ENSP00000269305:p.Cys238Ser	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.C238S|TP53_uc002gih.2_Missense_Mutation_p.C238S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C106S|TP53_uc010cng.1_Missense_Mutation_p.C106S|TP53_uc002gii.1_Missense_Mutation_p.C106S|TP53_uc010cnh.1_Missense_Mutation_p.C238S|TP53_uc010cni.1_Missense_Mutation_p.C238S|TP53_uc002gij.2_Missense_Mutation_p.C238S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C145S|TP53_uc002gio.2_Missense_Mutation_p.C106S	p.C238S	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	906	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	238		C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).	Zinc.	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.712T>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.542504	0.85917	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99964	-9.95;-9.95;-9.95;-9.95;-9.95;-9.95;-9.95;-9.95	4.09	4.09	0.47781	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99971	0.9990	M	0.92970	3.365	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;0.999	D	0.95386	0.8477	10	0.87932	D	0	-18.536	11.6823	0.51466	1.0:0.0:0.0:0.0	.	238;238;145;238;238;238	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	238;238;238;238;238;238;227;145;106;145	ENSP00000410739:C238S;ENSP00000352610:C238S;ENSP00000269305:C238S;ENSP00000398846:C238S;ENSP00000391127:C238S;ENSP00000391478:C238S;ENSP00000425104:C106S;ENSP00000423862:C145S	ENSP00000269305:C238S	C	-	1	0	TP53	7518294	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.021000	0.93673	2.074000	0.62210	0.379000	0.24179	TGT		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		23	54	0	0	0	0	23	54				
DNAH2	146754	broad.mit.edu	37	17	7662908	7662908	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:7662908C>G	ENST00000572933.1	+	16	4077	c.2617C>G	c.(2617-2619)Ctg>Gtg	p.L873V	DNAH2_ENST00000389173.2_Missense_Mutation_p.L873V			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	873	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GAAGAATGATCTGCAAGGAAG	0.448																																						uc002giu.1		NA																	0				ovary(6)|skin(6)|central_nervous_system(1)	13						c.(2617-2619)CTG>GTG		dynein heavy chain domain 3							104.0	100.0	101.0					17																	7662908		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7662908C>G	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.2617C>G	17.37:g.7662908C>G	ENSP00000458355:p.Leu873Val						p.L873V	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			15	2631	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	873			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.2617C>G	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	0.636	-0.815347	0.02776	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.22336	1.96	5.8	-11.6	0.00059	.	2.061380	0.02285	N	0.069793	T	0.08582	0.0213	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.10451	-1.0629	10	0.12430	T	0.62	.	10.9984	0.47591	0.2499:0.4671:0.283:0.0	.	873	Q9P225	DYH2_HUMAN	V	873	ENSP00000373825:L873V	ENSP00000353818:L873V	L	+	1	2	DNAH2	7603633	0.000000	0.05858	0.000000	0.03702	0.138000	0.21146	-3.004000	0.00651	-3.050000	0.00260	-1.308000	0.01314	CTG		0.448	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		10	98	0	0	0	0	10	98				
CHD3	1107	broad.mit.edu	37	17	7814256	7814256	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:7814256A>G	ENST00000330494.7	+	39	5996	c.5846A>G	c.(5845-5847)aAt>aGt	p.N1949S	AC025335.1_ENST00000324348.7_RNA|CHD3_ENST00000358181.4_Missense_Mutation_p.N1915S|CHD3_ENST00000380358.4_Missense_Mutation_p.N2008S	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1949	Required for interaction with PCNT.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GCAGGCGCCAATTACAGCCAG	0.632																																						uc002gje.2		NA																	0				breast(1)	1						c.(5845-5847)AAT>AGT		chromodomain helicase DNA binding protein 3							67.0	68.0	68.0					17																	7814256		2201	4298	6499	SO:0001583	missense	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7814256A>G	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.5846A>G	17.37:g.7814256A>G	ENSP00000332628:p.Asn1949Ser					CHD3_uc002gjd.2_Missense_Mutation_p.N2008S|CHD3_uc002gjf.2_Missense_Mutation_p.N1915S|CHD3_uc002gjh.2_Missense_Mutation_p.N526S|CHD3_uc002gjj.2_Missense_Mutation_p.N112S	p.N1949S	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN			39	5996	+		Prostate(122;0.202)	1949			Required for interaction with PCNT.		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	c.5846A>G	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	a	17.31	3.356796	0.61293	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.91631	-2.88;-2.83;-2.8	5.27	5.27	0.74061	.	0.000000	0.49305	D	0.000152	D	0.93044	0.7786	L	0.29908	0.895	0.54753	D	0.999988	D;D;D;D;D	0.69078	0.993;0.993;0.996;0.993;0.997	D;D;D;D;D	0.73380	0.978;0.978;0.98;0.956;0.97	D	0.93569	0.6902	10	0.52906	T	0.07	-22.128	15.346	0.74337	1.0:0.0:0.0:0.0	.	928;526;1915;1949;2008	B4DLC6;B3KWV4;Q12873-2;Q12873;E9PG89	.;.;.;CHD3_HUMAN;.	S	2008;1915;1949	ENSP00000369716:N2008S;ENSP00000350907:N1915S;ENSP00000332628:N1949S	ENSP00000332628:N1949S	N	+	2	0	CHD3	7754981	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.874000	0.75546	2.215000	0.71742	0.492000	0.49549	AAT		0.632	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		63	92	0	0	0	0	63	92				
MYH10	4628	broad.mit.edu	37	17	8451705	8451705	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:8451705G>A	ENST00000269243.4	-	10	1193	c.1055C>T	c.(1054-1056)tCa>tTa	p.S352L	RN7SL129P_ENST00000479993.2_RNA|MYH10_ENST00000360416.3_Missense_Mutation_p.S362L|MYH10_ENST00000396239.1_Missense_Mutation_p.S352L|MYH10_ENST00000379980.4_Missense_Mutation_p.S368L	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	352	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CTGTAGCACTGAAGATACTAC	0.299																																						uc002gll.2		NA																	0				ovary(2)	2						c.(1054-1056)TCA>TTA		myosin, heavy polypeptide 10, non-muscle							105.0	105.0	105.0					17																	8451705		2202	4298	6500	SO:0001583	missense	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8451705G>A	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.1055C>T	17.37:g.8451705G>A	ENSP00000269243:p.Ser352Leu					MYH10_uc002glm.2_Missense_Mutation_p.S362L|MYH10_uc010cnx.2_Missense_Mutation_p.S361L	p.S352L	NM_005964	NP_005955	P35580	MYH10_HUMAN			10	1151	-			352			Myosin head-like.		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.1055C>T	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.228566	0.79576	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	T;T;D;T	0.95690	-0.66;-0.66;-3.78;-0.66	5.3	5.3	0.74995	Myosin head, motor domain (2);	0.132950	0.48767	D	0.000170	D	0.94791	0.8318	M	0.67517	2.055	0.54753	D	0.99998	B;B;B	0.11235	0.004;0.001;0.004	B;B;B	0.14578	0.011;0.005;0.011	D	0.91787	0.5440	10	0.87932	D	0	.	19.1489	0.93479	0.0:0.0:1.0:0.0	.	361;362;352	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	L	352;362;352;368	ENSP00000269243:S352L;ENSP00000353590:S362L;ENSP00000379539:S352L;ENSP00000369315:S368L	ENSP00000269243:S352L	S	-	2	0	MYH10	8392430	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.788000	0.85771	2.757000	0.94681	0.591000	0.81541	TCA		0.299	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			52	49	0	0	0	0	52	49				
GLP2R	9340	broad.mit.edu	37	17	9792910	9792910	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:9792910C>A	ENST00000262441.5	+	13	2063	c.1550C>A	c.(1549-1551)cCc>cAc	p.P517H	GLP2R_ENST00000574745.1_Missense_Mutation_p.P337H	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	517					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)			endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	GGCGCCCAGCCCCAACAGGAC	0.632																																						uc002gmd.1		NA																	0				lung(2)|ovary(1)	3						c.(1549-1551)CCC>CAC		glucagon-like peptide 2 receptor precursor	Glucagon recombinant(DB00040)						33.0	33.0	33.0					17																	9792910		2203	4300	6503	SO:0001583	missense	9340				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		g.chr17:9792910C>A	AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"""GPCR / Class B : Glucagon receptors"""	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.1550C>A	17.37:g.9792910C>A	ENSP00000262441:p.Pro517His						p.P517H	NM_004246	NP_004237	O95838	GLP2R_HUMAN			13	1550	+			517			Cytoplasmic (Potential).		Q4VAT3	Missense_Mutation	SNP	ENST00000262441.5	37	c.1550C>A	CCDS11150.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.166056	0.38217	.	.	ENSG00000065325	ENST00000396206;ENST00000262441	T	0.56275	0.47	5.73	5.73	0.89815	.	0.000000	0.39475	N	0.001359	T	0.59362	0.2188	L	0.59436	1.845	0.19775	N	0.999954	D	0.63880	0.993	P	0.49999	0.628	T	0.59705	-0.7404	10	0.87932	D	0	.	15.3985	0.74816	0.0:1.0:0.0:0.0	.	517	O95838	GLP2R_HUMAN	H	517	ENSP00000262441:P517H	ENSP00000262441:P517H	P	+	2	0	GLP2R	9733635	0.003000	0.15002	0.039000	0.18376	0.300000	0.27592	1.678000	0.37586	2.713000	0.92767	0.655000	0.94253	CCC		0.632	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4			24	29	1	0	1.11e-09	1.4e-09	24	29				
MYH13	8735	broad.mit.edu	37	17	10206572	10206572	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:10206572C>A	ENST00000418404.3	-	38	5771	c.5608G>T	c.(5608-5610)Gac>Tac	p.D1870Y	MYH13_ENST00000252172.4_Missense_Mutation_p.D1870Y|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1870					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCCACCAGGTCCTGGAGCCTA	0.582																																						uc002gmk.1		NA																	0				ovary(4)|skin(2)	6						c.(5608-5610)GAC>TAC		myosin, heavy polypeptide 13, skeletal muscle							148.0	155.0	153.0					17																	10206572		2142	4262	6404	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10206572C>A	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.5608G>T	17.37:g.10206572C>A	ENSP00000404570:p.Asp1870Tyr						p.D1870Y	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			39	5698	-			1870			Potential.		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.5608G>T	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747651	0.69533	.	.	ENSG00000006788	ENST00000252172	D	0.82526	-1.62	3.81	3.81	0.43845	Myosin tail (1);	.	.	.	.	D	0.93549	0.7941	H	0.97415	4	0.43172	D	0.994979	D	0.76494	0.999	D	0.76575	0.988	D	0.95019	0.8159	9	0.87932	D	0	.	11.9569	0.52986	0.0:0.9108:0.0:0.0892	.	1870	Q9UKX3	MYH13_HUMAN	Y	1870	ENSP00000252172:D1870Y	ENSP00000252172:D1870Y	D	-	1	0	MYH13	10147297	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.841000	0.69409	2.107000	0.64212	0.561000	0.74099	GAC		0.582	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		92	154	1	0	1.12e-47	1.74e-47	92	154				
MYH8	4626	broad.mit.edu	37	17	10310220	10310220	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:10310220G>A	ENST00000403437.2	-	18	2136	c.2042C>T	c.(2041-2043)aCc>aTc	p.T681I	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	681	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						AGGAGTTTTGGTTTCATTGGG	0.388									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2		NA																	0				skin(6)|ovary(3)|breast(2)	11						c.(2041-2043)ACC>ATC		myosin, heavy chain 8, skeletal muscle,							98.0	90.0	93.0					17																	10310220		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10310220G>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.2042C>T	17.37:g.10310220G>A	ENSP00000384330:p.Thr681Ile					uc002gml.1_Intron	p.T681I	NM_002472	NP_002463	P13535	MYH8_HUMAN			18	2137	-			681			Myosin head-like.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.2042C>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.237712	0.58886	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.87256	-2.23	5.07	5.07	0.68467	Myosin head, motor domain (2);	0.000000	0.42964	U	0.000639	D	0.88149	0.6359	M	0.63843	1.955	0.51482	D	0.999929	B	0.15141	0.012	B	0.33690	0.168	D	0.84171	0.0434	10	0.36615	T	0.2	.	18.6502	0.91428	0.0:0.0:1.0:0.0	.	681	P13535	MYH8_HUMAN	I	681	ENSP00000384330:T681I	ENSP00000252173:T681I	T	-	2	0	MYH8	10250945	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.632000	0.54287	2.652000	0.90054	0.650000	0.86243	ACC		0.388	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		8	65	0	0	0	0	8	65				
MYH4	4622	broad.mit.edu	37	17	10364260	10364260	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:10364260C>A	ENST00000255381.2	-	12	1230	c.1120G>T	c.(1120-1122)Gag>Tag	p.E374*	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	374	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCTGCCTGCTCTTCCCTTTGC	0.493																																						uc002gmn.2		NA																	0				ovary(10)|skin(2)|central_nervous_system(1)	13						c.(1120-1122)GAG>TAG		myosin, heavy polypeptide 4, skeletal muscle							204.0	177.0	186.0					17																	10364260		2203	4300	6503	SO:0001587	stop_gained	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10364260C>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.1120G>T	17.37:g.10364260C>A	ENSP00000255381:p.Glu374*					uc002gml.1_Intron	p.E374*	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			12	1231	-			374			Myosin head-like.			Nonsense_Mutation	SNP	ENST00000255381.2	37	c.1120G>T	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	39	7.297046	0.98192	.	.	ENSG00000141048	ENST00000255381	.	.	.	5.49	5.49	0.81192	.	0.000000	0.37577	U	0.002023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.7262	0.96165	0.0:1.0:0.0:0.0	.	.	.	.	X	374	.	ENSP00000255381:E374X	E	-	1	0	MYH4	10304985	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.042000	0.70996	2.726000	0.93360	0.650000	0.86243	GAG		0.493	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		50	89	1	0	9.22e-22	1.35e-21	50	89				
MYH4	4622	broad.mit.edu	37	17	10366498	10366498	+	Silent	SNP	T	T	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:10366498T>C	ENST00000255381.2	-	10	923	c.813A>G	c.(811-813)ctA>ctG	p.L271L	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	271	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.L271L(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GGGACTTCTCTAGCAGATCTG	0.353																																						uc002gmn.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(10)|skin(2)|central_nervous_system(1)	13						c.(811-813)CTA>CTG		myosin, heavy polypeptide 4, skeletal muscle							75.0	76.0	75.0					17																	10366498		2203	4300	6503	SO:0001819	synonymous_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10366498T>C		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.813A>G	17.37:g.10366498T>C						uc002gml.1_Intron	p.L271L	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			10	924	-			271			Myosin head-like.			Silent	SNP	ENST00000255381.2	37	c.813A>G	CCDS11154.1																																																																																				0.353	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		26	43	0	0	0	0	26	43				
MYH3	4621	broad.mit.edu	37	17	10554888	10554888	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:10554888T>A	ENST00000583535.1	-	5	533	c.446A>T	c.(445-447)cAg>cTg	p.Q149L	MYH3_ENST00000226209.7_Missense_Mutation_p.Q149L	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	149	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TGGGGCCTCCTGGCGCTTTTT	0.577																																						uc002gmq.1		NA																	0				ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(445-447)CAG>CTG		myosin, heavy chain 3, skeletal muscle,							175.0	172.0	173.0					17																	10554888		2203	4300	6503	SO:0001583	missense	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10554888T>A		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.446A>T	17.37:g.10554888T>A	ENSP00000464317:p.Gln149Leu						p.Q149L	NM_002470	NP_002461	P11055	MYH3_HUMAN			4	523	-			149			Myosin head-like.		Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	c.446A>T	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	T	12.19	1.862765	0.32884	.	.	ENSG00000109063	ENST00000226209	D	0.87412	-2.25	4.41	4.41	0.53225	Myosin head, motor domain (2);	.	.	.	.	D	0.83709	0.5313	L	0.49455	1.56	0.27154	N	0.961335	B	0.06786	0.001	B	0.20577	0.03	T	0.77099	-0.2713	9	0.72032	D	0.01	.	9.9104	0.41401	0.0:0.0:0.3133:0.6867	.	149	P11055	MYH3_HUMAN	L	149	ENSP00000226209:Q149L	ENSP00000226209:Q149L	Q	-	2	0	MYH3	10495613	0.001000	0.12720	1.000000	0.80357	0.996000	0.88848	-0.251000	0.08818	1.855000	0.53841	0.459000	0.35465	CAG		0.577	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		86	180	0	0	0	0	86	180				
MYO15A	51168	broad.mit.edu	37	17	18030103	18030103	+	Splice_Site	SNP	A	A	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:18030103A>G	ENST00000205890.5	+	6	4204		c.e6-1			NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA						inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CTGTCTCCCCAGGCACCTCTT	0.552																																						uc010vxh.1		NA																	0				skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9						c.e6-2		myosin XV							113.0	117.0	116.0					17																	18030103		2003	4163	6166	SO:0001630	splice_region_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18030103A>G	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.3867-1A>G	17.37:g.18030103A>G							p.P1289_splice	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN			6	4205	+	all_neural(463;0.228)							B4DFC7	Splice_Site	SNP	ENST00000205890.5	37	c.3867_splice	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.263148	0.80358	.	.	ENSG00000091536	ENST00000205890	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7274	0.69354	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYO15A	17970828	1.000000	0.71417	0.963000	0.40424	0.928000	0.56348	9.281000	0.95811	1.881000	0.54492	0.533000	0.62120	.		0.552	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239	Intron	52	97	0	0	0	0	52	97				
FBXW10	10517	broad.mit.edu	37	17	18653137	18653137	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:18653137T>C	ENST00000395665.4	+	3	994	c.773T>C	c.(772-774)tTg>tCg	p.L258S	FBXW10_ENST00000395667.1_Missense_Mutation_p.L258S|FBXW10_ENST00000308799.4_Missense_Mutation_p.L258S|FBXW10_ENST00000301938.4_Missense_Mutation_p.L258S			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	258										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						TGCAATCTATTGGTTGACCTG	0.468																																						uc002guk.2		NA																	0				ovary(1)	1						c.(772-774)TTG>TCG		F-box and WD-40 domain protein 10							146.0	115.0	126.0					17																	18653137		2203	4300	6503	SO:0001583	missense	10517							g.chr17:18653137T>C	BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1211	protein-coding gene	gene with protein product		611679	"""chromosome 17 open reading frame 1A"", ""F-box and WD-40 domain protein 10"""	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.773T>C	17.37:g.18653137T>C	ENSP00000379025:p.Leu258Ser					FBXW10_uc002guj.2_Missense_Mutation_p.L258S|FBXW10_uc002gul.2_Missense_Mutation_p.L258S|FBXW10_uc010cqh.1_Missense_Mutation_p.L258S	p.L258S	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN			3	1005	+			258					C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP	ENST00000395665.4	37	c.773T>C	CCDS11199.3	.	.	.	.	.	.	.	.	.	.	T	17.34	3.365472	0.61513	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.28255	1.62;1.62;1.62;1.62	2.49	2.49	0.30216	.	0.395534	0.14928	U	0.290234	T	0.48624	0.1510	M	0.63428	1.95	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.91635	0.997;0.999;0.994;0.999	T	0.18903	-1.0322	10	0.87932	D	0	.	8.5156	0.33244	0.0:0.0:0.0:1.0	.	258;258;258;258	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	S	258	ENSP00000379026:L258S;ENSP00000310382:L258S;ENSP00000306937:L258S;ENSP00000379025:L258S	ENSP00000306937:L258S	L	+	2	0	FBXW10	18593862	0.026000	0.19158	0.002000	0.10522	0.803000	0.45373	1.573000	0.36472	1.144000	0.42321	0.333000	0.21579	TTG		0.468	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	NM_031456		50	162	0	0	0	0	50	162				
MAP2K3	5606	broad.mit.edu	37	17	21205550	21205550	+	Silent	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:21205550C>A	ENST00000342679.4	+	6	744	c.495C>A	c.(493-495)atC>atA	p.I165I	MAP2K3_ENST00000361818.5_Silent_p.I136I|MAP2K3_ENST00000316920.6_Silent_p.I136I	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	165	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CAGAGGACATCCTTGGGGAGA	0.582																																						uc002gys.2		NA																	0					0						c.(493-495)ATC>ATA		mitogen-activated protein kinase kinase 3							125.0	102.0	110.0					17																	21205550		2203	4300	6503	SO:0001819	synonymous_variant	5606				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:21205550C>A	L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6843	protein-coding gene	gene with protein product	"""MAPK/ERK kinase 3"", ""MAP kinase kinase 3"", ""dual specificity mitogen activated protein kinase kinase 3"""	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.495C>A	17.37:g.21205550C>A						MAP2K3_uc002gyt.2_Silent_p.I136I|MAP2K3_uc002gyu.2_Silent_p.I136I	p.I165I	NM_145109	NP_659731	P46734	MP2K3_HUMAN		COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)	6	760	+			165			Protein kinase.		B3KSK7|Q99441|Q9UE71|Q9UE72	Silent	SNP	ENST00000342679.4	37	c.495C>A	CCDS11217.1																																																																																				0.582	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2	NM_145109		16	52	1	0	6.5e-13	8.65e-13	16	52				
KCNJ12	3768	broad.mit.edu	37	17	21318731	21318732	+	Missense_Mutation	DNP	CG	CG	TC	rs571676444		TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:21318731_21318732CG>TC	ENST00000583088.1	+	3	972_973	c.77_78CG>TC	c.(76-78)tCG>tTC	p.S26F	KCNJ12_ENST00000331718.5_Missense_Mutation_p.S26F	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	26					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	GTCACCATGTCGGGCGCCAACG	0.658										Prostate(3;0.18)																												uc002gyv.1		NA																	0				ovary(3)|skin(1)	4						c.(76-78)TCG>TTC		potassium inwardly-rectifying channel, subfamily	Dofetilide(DB00204)																																			SO:0001583	missense	3768				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity	g.chr17:21318731_21318732CG>TC	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	Exception_encountered	17.37:g.21318731_21318732delinsTC	ENSP00000463778:p.Ser26Phe	Prostate(3;0.18)					p.S26F	NM_021012	NP_066292	Q14500	IRK12_HUMAN		Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	782_783	+			26			Cytoplasmic (By similarity).		O43401|Q15756|Q8NG63	Missense_Mutation	DNP	ENST00000583088.1	37	c.77_78CG>TC	CCDS11219.1																																																																																				0.658	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		4	45	0	0	0	0	4	45				
NOS2	4843	broad.mit.edu	37	17	26084314	26084314	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:26084314C>A	ENST00000313735.6	-	27	3653	c.3420G>T	c.(3418-3420)agG>agT	p.R1140S		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	1140					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	GCACCGCCACCCTGTCCTTCT	0.537											OREG0024267	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002gzu.2		NA																	0				skin(2)|ovary(1)|breast(1)	4						c.(3418-3420)AGG>AGT		nitric oxide synthase 2A	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)						74.0	65.0	68.0					17																	26084314		2203	4300	6503	SO:0001583	missense	4843				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	g.chr17:26084314C>A	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.3420G>T	17.37:g.26084314C>A	ENSP00000327251:p.Arg1140Ser		OREG0024267	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	97		p.R1140S	NM_000625	NP_000616	P35228	NOS2_HUMAN			27	3684	-			1140					A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	ENST00000313735.6	37	c.3420G>T	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.381667	0.24944	.	.	ENSG00000007171	ENST00000313735;ENST00000379105	T	0.01584	4.75	4.8	-2.64	0.06114	.	2.337610	0.01727	N	0.028624	T	0.01558	0.0050	N	0.25485	0.75	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46871	-0.9160	10	0.34782	T	0.22	.	1.7883	0.03046	0.1308:0.3527:0.1384:0.3781	.	1140	P35228	NOS2_HUMAN	S	1140;1101	ENSP00000327251:R1140S	ENSP00000327251:R1140S	R	-	3	2	NOS2	23108441	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.013000	0.13310	-0.476000	0.06842	0.563000	0.77884	AGG		0.537	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		31	57	1	0	4.53e-37	6.97e-37	31	57				
SUPT6H	6830	broad.mit.edu	37	17	27008409	27008409	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:27008409G>T	ENST00000314616.6	+	12	1768	c.1485G>T	c.(1483-1485)gaG>gaT	p.E495D	SUPT6H_ENST00000347486.4_Missense_Mutation_p.E495D	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	495	Interaction with KDM6A. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TCAGGGAAGAGGGAGATGAAG	0.468																																						uc002hby.2		NA																	0				ovary(2)|skin(1)	3						c.(1483-1485)GAG>GAT		suppressor of Ty 6 homolog							78.0	72.0	74.0					17																	27008409		2203	4300	6503	SO:0001583	missense	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27008409G>T	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.1485G>T	17.37:g.27008409G>T	ENSP00000319104:p.Glu495Asp					SUPT6H_uc010crt.2_Missense_Mutation_p.E495D	p.E495D	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN			12	1575	+	Lung NSC(42;0.00431)		495					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	c.1485G>T	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	G	8.965	0.971421	0.18736	.	.	ENSG00000109111	ENST00000314616;ENST00000347486	.	.	.	4.73	1.04	0.20106	.	0.206543	0.41396	N	0.000892	T	0.12475	0.0303	N	0.05383	-0.06	0.27261	N	0.958626	B	0.09022	0.002	B	0.04013	0.001	T	0.14896	-1.0456	9	0.11794	T	0.64	-14.6525	1.935	0.03335	0.1759:0.1055:0.3864:0.3322	.	495	Q7KZ85	SPT6H_HUMAN	D	495	.	ENSP00000319104:E495D	E	+	3	2	SUPT6H	24032536	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.089000	0.30890	0.367000	0.24454	0.655000	0.94253	GAG		0.468	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		24	41	1	0	6.13e-19	8.71e-19	24	41				
ASIC2	40	broad.mit.edu	37	17	31340990	31340990	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:31340990G>T	ENST00000359872.6	-	10	2293	c.1532C>A	c.(1531-1533)gCc>gAc	p.A511D	ASIC2_ENST00000225823.2_Missense_Mutation_p.A562D	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	511					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	GTGTCAGCAGGCAATCTCCTC	0.572																																						uc002hhu.2		NA																	0				ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(1531-1533)GCC>GAC		amiloride-sensitive cation channel 1, neuronal	Amiloride(DB00594)						135.0	103.0	114.0					17																	31340990		2201	4300	6501	SO:0001583	missense	40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:31340990G>T	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.1532C>A	17.37:g.31340990G>T	ENSP00000352934:p.Ala511Asp					ACCN1_uc002hht.2_Missense_Mutation_p.A562D	p.A511D	NM_001094	NP_001085	Q16515	ACCN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215)	10	1806	-		Breast(31;0.042)|Ovarian(249;0.202)	511			Cytoplasmic (By similarity).		E9PBX2|Q13553|Q6DJU1|Q8N3E2	Missense_Mutation	SNP	ENST00000359872.6	37	c.1532C>A	CCDS42296.1	.	.	.	.	.	.	.	.	.	.	g	26.3	4.724310	0.89298	.	.	ENSG00000108684	ENST00000225823;ENST00000359872	T;T	0.71341	-0.37;-0.56	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.82259	0.4998	M	0.66939	2.045	0.80722	D	1	D;D	0.76494	0.977;0.999	P;D	0.73380	0.821;0.98	D	0.84328	0.0520	10	0.72032	D	0.01	-16.0839	15.7526	0.77997	0.0:0.0:1.0:0.0	.	511;562	Q16515;E9PBX2	ACCN1_HUMAN;.	D	562;511	ENSP00000225823:A562D;ENSP00000352934:A511D	ENSP00000225823:A562D	A	-	2	0	ACCN1	28365103	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	9.408000	0.97327	2.325000	0.78763	0.561000	0.74099	GCC		0.572	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		4	6	1	0	1.24e-05	1.41e-05	4	6				
CCL1	6346	broad.mit.edu	37	17	32690143	32690143	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:32690143A>T	ENST00000225842.3	-	1	107	c.38T>A	c.(37-39)cTa>cAa	p.L13Q		NM_002981.1	NP_002972.1	P22362	CCL1_HUMAN	chemokine (C-C motif) ligand 1	13					cell chemotaxis (GO:0060326)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|immune response (GO:0006955)|signal transduction (GO:0007165)|viral process (GO:0016032)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)						Ovarian(249;0.0443)|Breast(31;0.133)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)		CATCCCAGCTAGCAGCAAGCA	0.562																																						uc002hid.1		NA																	0					0						c.(37-39)CTA>CAA		small inducible cytokine A1 precursor							150.0	108.0	122.0					17																	32690143		2203	4300	6503	SO:0001583	missense	6346				cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction	extracellular space	chemokine activity	g.chr17:32690143A>T	M57506	CCDS11282.1	17q11.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000108702	ENSG00000108702		"""Endogenous ligands"""	10609	protein-coding gene	gene with protein product	"""inflammatory cytokine I-309"", ""T lymphocyte-secreted protein I-309"""	182281	"""small inducible cytokine A1 (I-309, homologous to mouse Tca-3)"""	SCYA1		2212659, 10409433	Standard	NM_002981		Approved	I-309, TCA3, P500, SISe	uc002hid.1	P22362	OTTHUMG00000132888	ENST00000225842.3:c.38T>A	17.37:g.32690143A>T	ENSP00000225842:p.Leu13Gln						p.L13Q	NM_002981	NP_002972	P22362	CCL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)	1	110	-		Ovarian(249;0.0443)|Breast(31;0.133)	13					B2R5G9|Q2M309	Missense_Mutation	SNP	ENST00000225842.3	37	c.38T>A	CCDS11282.1	.	.	.	.	.	.	.	.	.	.	A	12.32	1.901793	0.33535	.	.	ENSG00000108702	ENST00000225842	T	0.04706	3.57	4.53	2.3	0.28687	.	0.307474	0.23025	N	0.052815	T	0.13586	0.0329	.	.	.	0.24734	N	0.99307	D	0.76494	0.999	D	0.68353	0.957	T	0.05305	-1.0893	9	0.72032	D	0.01	-1.3227	4.6838	0.12748	0.7078:0.194:0.0981:0.0	.	13	P22362	CCL1_HUMAN	Q	13	ENSP00000225842:L13Q	ENSP00000225842:L13Q	L	-	2	0	CCL1	29714256	0.384000	0.25164	0.602000	0.28890	0.189000	0.23516	1.437000	0.34991	0.492000	0.27815	0.529000	0.55759	CTA		0.562	CCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256385.2	NM_002981		20	30	0	0	0	0	20	30				
SLFN13	146857	broad.mit.edu	37	17	33768373	33768373	+	Silent	SNP	G	G	A	rs563252370		TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:33768373G>A	ENST00000285013.6	-	6	2210	c.1935C>T	c.(1933-1935)atC>atT	p.I645I	SLFN13_ENST00000534689.1_Silent_p.I327I|SLFN13_ENST00000542635.1_Silent_p.I645I|SLFN13_ENST00000533791.1_Silent_p.I645I|SLFN13_ENST00000360502.2_Silent_p.I327I|SLFN13_ENST00000526861.1_Silent_p.I645I	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	645						intracellular (GO:0005622)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CTGCTCGGCAGATATTTCTAT	0.388																																						uc002hjk.1		NA																	0				ovary(1)|breast(1)	2						c.(1933-1935)ATC>ATT		schlafen family member 13							42.0	51.0	48.0					17																	33768373		2094	4270	6364	SO:0001819	synonymous_variant	146857					intracellular	ATP binding	g.chr17:33768373G>A	AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.1935C>T	17.37:g.33768373G>A						SLFN13_uc010wch.1_Silent_p.I645I|SLFN13_uc002hjl.2_Silent_p.I645I|SLFN13_uc010ctt.2_Silent_p.I327I|SLFN13_uc002hjm.2_Silent_p.I314I	p.I645I	NM_144682	NP_653283	Q68D06	SLN13_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	4	2265	-			645					E1P645|Q658M1|Q6ZS51|Q96A81	Silent	SNP	ENST00000285013.6	37	c.1935C>T	CCDS32620.1																																																																																				0.388	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381883.1	NM_144682		26	53	0	0	0	0	26	53				
TOP2A	7153	broad.mit.edu	37	17	38564238	38564238	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:38564238C>A	ENST00000423485.1	-	12	1639	c.1481G>T	c.(1480-1482)cGa>cTa	p.R494L		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	494	Toprim. {ECO:0000255|PROSITE- ProRule:PRU00995}.				apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	AGAAGCTTCTCGAACATTGAG	0.373																																						uc002huq.2		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(1480-1482)CGA>CTA		DNA topoisomerase II, alpha isozyme	Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)						89.0	87.0	88.0					17																	38564238		1803	4067	5870	SO:0001583	missense	7153				apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding	g.chr17:38564238C>A		CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"""topoisomerase (DNA) II alpha (170kD)"""	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.1481G>T	17.37:g.38564238C>A	ENSP00000411532:p.Arg494Leu					TOP2A_uc002hur.1_Missense_Mutation_p.R135L	p.R494L	NM_001067	NP_001058	P11388	TOP2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.00183)		12	1607	-		Breast(137;0.00328)	494					B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	ENST00000423485.1	37	c.1481G>T	CCDS45672.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.757921	0.89843	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.25579	1.79	5.46	4.49	0.54785	DNA topoisomerase, type IIA, subunit B/N-terminal, alpha-beta (1);DNA topoisomerase, type IIA, central (1);DNA topoisomerase, type IIA, subunit B/N-terminal (1);	0.060660	0.64402	D	0.000005	T	0.44095	0.1277	M	0.79123	2.44	0.80722	D	1	B	0.34214	0.442	P	0.46479	0.518	T	0.48340	-0.9044	10	0.87932	D	0	.	14.2173	0.65802	0.0:0.9281:0.0:0.0719	.	494	P11388	TOP2A_HUMAN	L	494;574;517;530	ENSP00000411532:R494L	ENSP00000269577:R574L	R	-	2	0	TOP2A	35817764	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.800000	0.85949	1.320000	0.45209	0.561000	0.74099	CGA		0.373	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1			36	68	1	0	1.6e-28	2.42e-28	36	68				
KRT10	3858	broad.mit.edu	37	17	38975866	38975866	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:38975866C>G	ENST00000269576.5	-	6	1285	c.1276G>C	c.(1276-1278)Gag>Cag	p.E426Q	TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10	426	Coil 2.|Gly-rich.|Rod.				cellular response to calcium ion (GO:0071277)|keratinocyte differentiation (GO:0030216)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of epidermis (GO:0030280)			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				TTCTGGCACTCGGTTTCAGCT	0.483																																						uc002hvi.2		NA																	0					0						c.(1276-1278)GAG>CAG		keratin 10							137.0	132.0	134.0					17																	38975866		2203	4300	6503	SO:0001583	missense	3858				epidermis development		protein binding|structural constituent of epidermis	g.chr17:38975866C>G	J04029	CCDS11377.1	17q21.2	2013-06-20	2008-08-01		ENSG00000186395	ENSG00000186395		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6413	protein-coding gene	gene with protein product	"""cytokeratin 10"", ""epidermolytic hyperkeratosis"""	148080	"""keratosis palmaris et plantaris"""	KPP		2461420, 16831889	Standard	NM_000421		Approved	K10, CK10	uc002hvi.3	P13645	OTTHUMG00000133368	ENST00000269576.5:c.1276G>C	17.37:g.38975866C>G	ENSP00000269576:p.Glu426Gln					KRT10_uc010cxd.2_RNA|TMEM99_uc002hvj.1_Intron	p.E426Q	NM_000421	NP_000412	P13645	K1C10_HUMAN			6	1302	-		Breast(137;0.000301)	426			Rod.|Gly-rich.|Coil 2.		Q14664|Q8N175	Missense_Mutation	SNP	ENST00000269576.5	37	c.1276G>C	CCDS11377.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.861573	0.91433	.	.	ENSG00000186395	ENST00000269576	D	0.89617	-2.54	5.6	5.6	0.85130	Filament (1);	0.000000	0.36740	N	0.002426	D	0.93835	0.8028	M	0.64260	1.97	0.80722	D	1	D	0.56521	0.976	D	0.74023	0.982	D	0.93986	0.7262	10	0.87932	D	0	.	19.6254	0.95676	0.0:1.0:0.0:0.0	.	426	P13645	K1C10_HUMAN	Q	426	ENSP00000269576:E426Q	ENSP00000269576:E426Q	E	-	1	0	KRT10	36229392	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	4.539000	0.60657	2.662000	0.90505	0.655000	0.94253	GAG		0.483	KRT10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257875.1	NM_000421		6	135	0	0	0	0	6	135				
CNTNAP1	8506	broad.mit.edu	37	17	40847817	40847817	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:40847817A>T	ENST00000264638.4	+	19	3488	c.3271A>T	c.(3271-3273)Agc>Tgc	p.S1091C	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	1091	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CTTCAGCACCAGCTCCGCCCC	0.617																																						uc002iay.2		NA																	0				ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8						c.(3271-3273)AGC>TGC		contactin associated protein 1 precursor							99.0	86.0	90.0					17																	40847817		2203	4300	6503	SO:0001583	missense	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40847817A>T	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.3271A>T	17.37:g.40847817A>T	ENSP00000264638:p.Ser1091Cys					CNTNAP1_uc010wgs.1_RNA	p.S1091C	NM_003632	NP_003623	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	19	3487	+		Breast(137;0.000143)	1091			Laminin G-like 4.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000264638.4	37	c.3271A>T	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	A	16.97	3.269690	0.59540	.	.	ENSG00000108797	ENST00000264638	T	0.78707	-1.2	5.52	-3.7	0.04437	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	1.511810	0.03805	N	0.264998	T	0.71187	0.3310	L	0.46157	1.445	0.09310	N	1	P	0.39443	0.674	B	0.43478	0.421	T	0.60801	-0.7191	10	0.56958	D	0.05	.	2.3941	0.04386	0.3377:0.3213:0.2415:0.0995	.	1091	P78357	CNTP1_HUMAN	C	1091	ENSP00000264638:S1091C	ENSP00000264638:S1091C	S	+	1	0	CNTNAP1	38101343	0.000000	0.05858	0.001000	0.08648	0.842000	0.47809	-0.316000	0.08071	-0.826000	0.04284	-0.313000	0.08912	AGC		0.617	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		34	47	0	0	0	0	34	47				
G6PC	2538	broad.mit.edu	37	17	41052904	41052904	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:41052904G>A	ENST00000253801.2	+	1	90	c.11G>A	c.(10-12)gGa>gAa	p.G4E	G6PC_ENST00000585489.1_Missense_Mutation_p.G4E|LINC00671_ENST00000301683.3_lincRNA|G6PC_ENST00000592383.1_Missense_Mutation_p.G4E	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	4					carbohydrate metabolic process (GO:0005975)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|hexose transport (GO:0008645)|multicellular organism growth (GO:0035264)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)|urate metabolic process (GO:0046415)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)|phosphate ion binding (GO:0042301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		ATGGAGGAAGGAATGAATGTT	0.498																																						uc002icb.1		NA																	0				ovary(1)|breast(1)|kidney(1)|skin(1)	4						c.(10-12)GGA>GAA		glucose-6-phosphatase, catalytic subunit							97.0	76.0	83.0					17																	41052904		2203	4300	6503	SO:0001583	missense	2538	Glycogen_Storage_Disease_type_Ia			gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding	g.chr17:41052904G>A	U01120	CCDS11446.1, CCDS59291.1	17q21	2014-09-17	2006-06-28			ENSG00000131482	3.1.3.9		4056	protein-coding gene	gene with protein product	"""glycogen storage disease type I, von Gierke disease"""	613742	"""glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease)"""	G6PT		7774924	Standard	NM_000151		Approved	GSD1a	uc002icb.2	P35575		ENST00000253801.2:c.11G>A	17.37:g.41052904G>A	ENSP00000253801:p.Gly4Glu					LOC388387_uc002ibz.2_5'Flank|LOC388387_uc002iby.2_5'Flank|LOC388387_uc002ica.2_5'Flank|LOC388387_uc010whe.1_5'Flank|G6PC_uc010whf.1_Missense_Mutation_p.G6E	p.G4E	NM_000151	NP_000142	P35575	G6PC_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	1	90	+		Breast(137;0.000143)	4			Lumenal (Potential).		A1L4C0|B4E1C3|K7EL82	Missense_Mutation	SNP	ENST00000253801.2	37	c.11G>A	CCDS11446.1	.	.	.	.	.	.	.	.	.	.	G	4.322	0.059136	0.08339	.	.	ENSG00000131482	ENST00000253801	T	0.74842	-0.88	5.27	5.27	0.74061	.	0.334722	0.26804	N	0.022413	T	0.54208	0.1844	N	0.24115	0.695	0.32048	N	0.597365	B;B	0.31548	0.328;0.047	B;B	0.29785	0.107;0.036	T	0.55095	-0.8194	10	0.02654	T	1	.	10.6369	0.45571	0.0733:0.1348:0.7919:0.0	.	6;4	E7ENG5;P35575	.;G6PC_HUMAN	E	4	ENSP00000253801:G4E	ENSP00000253801:G4E	G	+	2	0	G6PC	38306430	0.098000	0.21812	0.912000	0.35992	0.978000	0.69477	2.460000	0.45031	2.740000	0.93945	0.650000	0.86243	GGA		0.498	G6PC-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452451.1	NM_000151		10	46	0	0	0	0	10	46				
CACNA1G	8913	broad.mit.edu	37	17	48676874	48676874	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:48676874G>T	ENST00000359106.5	+	17	3344	c.3344G>T	c.(3343-3345)cGt>cTt	p.R1115L	CACNA1G_ENST00000442258.2_Missense_Mutation_p.R1092L|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R1115L|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R1092L|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R1115L|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R1115L|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R1115L|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R1115L|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R1115L|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R1115L|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R1115L|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R1115L|CACNA1G_ENST00000352832.5_Missense_Mutation_p.R1092L|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R1092L|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R1092L|CACNA1G_ENST00000510115.1_Missense_Mutation_p.R1092L|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R1092L|CACNA1G_ENST00000416767.4_Missense_Mutation_p.R1115L|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R1115L|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R1115L|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R1115L|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R1115L|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R1092L|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R1115L|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R1115L|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R1115L	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1115					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	AGCCTCGGCCGTGCACCCAGC	0.677																																						uc002irk.1		NA																	0				breast(1)	1						c.(3343-3345)CGT>CTT		voltage-dependent calcium channel alpha 1G	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						18.0	25.0	23.0					17																	48676874		2017	4162	6179	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48676874G>T	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.3344G>T	17.37:g.48676874G>T	ENSP00000352011:p.Arg1115Leu					CACNA1G_uc002iri.1_Missense_Mutation_p.R1115L|CACNA1G_uc002irj.1_Missense_Mutation_p.R1092L|CACNA1G_uc002irl.1_Missense_Mutation_p.R1092L|CACNA1G_uc002irm.1_Missense_Mutation_p.R1092L|CACNA1G_uc002irn.1_Missense_Mutation_p.R1092L|CACNA1G_uc002iro.1_Missense_Mutation_p.R1092L|CACNA1G_uc002irp.1_Missense_Mutation_p.R1115L|CACNA1G_uc002irq.1_Missense_Mutation_p.R1092L|CACNA1G_uc002irr.1_Missense_Mutation_p.R1115L|CACNA1G_uc002irs.1_Missense_Mutation_p.R1115L|CACNA1G_uc002irt.1_Missense_Mutation_p.R1115L|CACNA1G_uc002irv.1_Missense_Mutation_p.R1115L|CACNA1G_uc002irw.1_Missense_Mutation_p.R1092L|CACNA1G_uc002iru.1_Missense_Mutation_p.R1092L|CACNA1G_uc002irx.1_Missense_Mutation_p.R1028L|CACNA1G_uc002iry.1_Missense_Mutation_p.R1028L|CACNA1G_uc002irz.1_Missense_Mutation_p.R1028L|CACNA1G_uc002isa.1_Missense_Mutation_p.R1028L|CACNA1G_uc002isb.1_Missense_Mutation_p.R1028L|CACNA1G_uc002isc.1_Missense_Mutation_p.R1028L|CACNA1G_uc002isd.1_Missense_Mutation_p.R1028L|CACNA1G_uc002ise.1_Missense_Mutation_p.R1028L|CACNA1G_uc002isf.1_Missense_Mutation_p.R1028L|CACNA1G_uc002isg.1_Missense_Mutation_p.R1028L|CACNA1G_uc002ish.1_Missense_Mutation_p.R1028L|CACNA1G_uc002isi.1_Missense_Mutation_p.R1005L|CACNA1G_uc002isj.2_5'UTR	p.R1115L	NM_018896	NP_061496	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		17	3716	+	Breast(11;6.7e-17)		1115			Cytoplasmic (Potential).		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.3344G>T	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	g	28.9	4.963441	0.92791	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87;-1.87;-1.87;-1.87;-1.87;-1.87;-1.87;-1.87;-1.87;-1.87;-1.87;-1.87;-1.87;-1.87;-1.87;-1.87;-1.87;-1.87;-1.87;-1.87;-1.87;-1.87;-1.87	4.47	4.47	0.54385	.	0.183459	0.47852	D	0.000217	D	0.92227	0.7535	M	0.78456	2.415	0.80722	D	1	D;D;D;B;P;D;D;D;D;D;D;P;D;P;D;D;D;P;P;D;D;P;D;P;D;D	0.89917	0.996;0.999;0.998;0.117;0.774;0.999;0.997;1.0;0.997;0.999;1.0;0.883;1.0;0.77;0.999;0.998;0.997;0.939;0.486;1.0;0.995;0.941;1.0;0.894;0.999;0.998	D;D;D;B;B;D;D;D;D;D;D;P;D;B;D;D;D;P;B;D;D;P;D;P;D;D	0.87578	0.977;0.988;0.994;0.072;0.396;0.994;0.985;0.998;0.985;0.965;0.998;0.8;0.988;0.331;0.994;0.975;0.959;0.652;0.396;0.984;0.968;0.635;0.998;0.572;0.993;0.982	D	0.93326	0.6697	10	0.72032	D	0.01	.	17.3164	0.87225	0.0:0.0:1.0:0.0	.	1092;1115;1115;1115;1115;1115;1115;1115;1115;1115;1115;1092;1115;1115;1115;1115;1115;1092;1115;1092;1092;1092;1092;1115;1092;1115	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	L	1092;1092;1115;1092;1092;1092;1115;1115;1092;1115;1115;1115;1115;1115;1115;1092;1115;1115;1115;1115;1092;1115;1115;1115;1115;1115	ENSP00000353990:R1092L;ENSP00000339302:R1092L;ENSP00000392390:R1115L;ENSP00000347078:R1092L;ENSP00000409759:R1092L;ENSP00000425522:R1092L;ENSP00000426261:R1115L;ENSP00000425451:R1115L;ENSP00000422407:R1092L;ENSP00000426814:R1115L;ENSP00000427238:R1115L;ENSP00000423112:R1115L;ENSP00000420918:R1115L;ENSP00000426172:R1115L;ENSP00000423045:R1115L;ENSP00000427173:R1092L;ENSP00000426098:R1115L;ENSP00000425698:R1115L;ENSP00000426232:R1115L;ENSP00000423317:R1115L;ENSP00000350979:R1092L;ENSP00000352011:R1115L;ENSP00000414388:R1115L;ENSP00000423155:R1115L;ENSP00000422268:R1115L;ENSP00000421518:R1115L	ENSP00000339302:R1092L	R	+	2	0	CACNA1G	46031873	1.000000	0.71417	0.935000	0.37517	0.879000	0.50718	7.993000	0.88291	2.322000	0.78497	0.561000	0.74099	CGT		0.677	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		10	9	1	0	4.69e-08	5.73e-08	10	9				
C17orf47	284083	broad.mit.edu	37	17	56620307	56620309	+	Missense_Mutation	TNP	GGC	GGC	TTT			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:56620307_56620309GGC>TTT	ENST00000321691.3	-	1	1420_1422	c.1239_1241GCC>AAA	c.(1237-1242)ttGCCt>ttAAAt	p.P414N	RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000412945.3_5'Flank|SEPT4_ENST00000457347.2_5'Flank|RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	414										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGACCGAGGAGGCAAGGGCCTAG	0.527																																						uc002iwq.1		NA																	0				breast(1)	1						c.(1237-1242)TTGCCT>TTAAAT		hypothetical protein LOC284083																																				SO:0001583	missense	284083							g.chr17:56620307_56620309GGC>TTT		CCDS32691.1	17q23.2	2012-10-11			ENSG00000181013	ENSG00000181013			26844	protein-coding gene	gene with protein product							Standard	NM_001038704		Approved	FLJ40121	uc002iwq.2	Q8NEP4	OTTHUMG00000179244	ENST00000321691.3:c.1239_1241GCC>AAA	17.37:g.56620307GGC>TTT	ENSP00000354874:p.Pro414Asn					SEPT4_uc010wnx.1_5'Flank|SEPT4_uc010wny.1_5'Flank	p.P414N	NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN			1	1375_1377	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		414					Q8N821	Missense_Mutation	TNP	ENST00000321691.3	37	c.1239_1241GCC>AAA	CCDS32691.1																																																																																				0.527	C17orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445443.1	NM_001038704		24	79	0	0	0	0	24	79				
USP32	84669	broad.mit.edu	37	17	58258936	58258936	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:58258936T>A	ENST00000300896.4	-	32	4491	c.4297A>T	c.(4297-4299)Aat>Tat	p.N1433Y	USP32_ENST00000592339.1_Missense_Mutation_p.N1103Y	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1433	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CCAGCCCCATTTTCTTTGCTG	0.552																																						uc002iyo.1		NA																	0				lung(2)|breast(2)|large_intestine(1)	5						c.(4297-4299)AAT>TAT		ubiquitin specific protease 32							50.0	45.0	47.0					17																	58258936		2203	4300	6503	SO:0001583	missense	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58258936T>A	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.4297A>T	17.37:g.58258936T>A	ENSP00000300896:p.Asn1433Tyr					USP32_uc002iyn.1_Missense_Mutation_p.N1103Y	p.N1433Y	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		32	4583	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		1433					Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	37	c.4297A>T	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	T	17.06	3.292054	0.59976	.	.	ENSG00000170832	ENST00000300896	T	0.49720	0.77	5.58	5.58	0.84498	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.089776	0.85682	D	0.000000	T	0.50326	0.1609	L	0.29908	0.895	0.80722	D	1	P	0.50710	0.938	P	0.55161	0.77	T	0.43909	-0.9362	10	0.33940	T	0.23	.	15.2172	0.73277	0.0:0.0:0.0:1.0	.	1433	Q8NFA0	UBP32_HUMAN	Y	1433	ENSP00000300896:N1433Y	ENSP00000300896:N1433Y	N	-	1	0	USP32	55613718	1.000000	0.71417	0.998000	0.56505	0.792000	0.44763	2.257000	0.43240	2.253000	0.74438	0.454000	0.30748	AAT		0.552	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582		17	55	0	0	0	0	17	55				
ACE	1636	broad.mit.edu	37	17	61557822	61557822	+	Silent	SNP	C	C	T	rs4302	byFrequency	TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:61557822C>T	ENST00000290866.4	+	5	804	c.780C>T	c.(778-780)cgC>cgT	p.R260R	ACE_ENST00000538928.1_Silent_p.R260R|ACE_ENST00000428043.1_Silent_p.R260R|ACE_ENST00000584529.1_3'UTR	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	260	Peptidase M2 1.		R -> C (in dbSNP:rs4302).|R -> L (in dbSNP:rs4303).		angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TCGTCCGCCGCGCACTGCATC	0.607													C|||	42	0.00838658	0.0295	0.0014	5008	,	,		19037	0.001		0.0	False		,,,				2504	0.001					uc002jau.1		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(778-780)CGC>CGT		angiotensin I converting enzyme 1 isoform 1	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	C		127,4279	93.9+/-132.6	4,119,2080	159.0	139.0	146.0		780	-8.0	0.1	17	dbSNP_36	146	0,8600		0,0,4300	no	coding-synonymous	ACE	NM_000789.3		4,119,6380	TT,TC,CC		0.0,2.8824,0.9765		260/1307	61557822	127,12879	2203	4300	6503	SO:0001819	synonymous_variant	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61557822C>T	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.780C>T	17.37:g.61557822C>T						ACE_uc010wpi.1_Silent_p.R260R|ACE_uc010ddu.1_Silent_p.R77R	p.R260R	NM_000789	NP_000780	P12821	ACE_HUMAN			5	802	+			260			Extracellular (Potential).|Peptidase M2 1.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Silent	SNP	ENST00000290866.4	37	c.780C>T	CCDS11637.1																																																																																				0.607	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			31	65	0	0	0	0	31	65				
TEX2	55852	broad.mit.edu	37	17	62291328	62291328	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:62291328C>A	ENST00000583097.1	-	2	422	c.250G>T	c.(250-252)Gac>Tac	p.D84Y	TEX2_ENST00000584379.1_Missense_Mutation_p.D84Y|TEX2_ENST00000258991.3_Missense_Mutation_p.D84Y			Q8IWB9	TEX2_HUMAN	testis expressed 2	84					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CCGGCGGGGTCATGGCCAACT	0.577																																						uc002jec.2		NA																	0				ovary(1)	1						c.(250-252)GAC>TAC		testis expressed sequence 2							148.0	145.0	146.0					17																	62291328		2203	4300	6503	SO:0001583	missense	55852				signal transduction|sphingolipid metabolic process	integral to membrane		g.chr17:62291328C>A	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"""transmembrane protein 96"""		"""testis expressed sequence 2"""			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.250G>T	17.37:g.62291328C>A	ENSP00000462665:p.Asp84Tyr					TEX2_uc002jed.2_Missense_Mutation_p.D84Y|TEX2_uc002jee.2_Missense_Mutation_p.D84Y	p.D84Y	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	2	423	-			84					Q6AHZ5|Q8N3L0|Q9C0C5	Missense_Mutation	SNP	ENST00000583097.1	37	c.250G>T		.	.	.	.	.	.	.	.	.	.	C	1.700	-0.501818	0.04261	.	.	ENSG00000136478	ENST00000258991	T	0.55588	0.51	4.97	4.97	0.65823	.	0.162811	0.46145	D	0.000318	T	0.48059	0.1479	L	0.32530	0.975	0.44117	D	0.996897	P;P	0.48016	0.904;0.845	P;B	0.47251	0.542;0.34	T	0.52646	-0.8548	10	0.87932	D	0	-6.0183	11.7033	0.51583	0.0:0.9184:0.0:0.0816	.	84;84	Q8IWB9-2;Q8IWB9	.;TEX2_HUMAN	Y	84	ENSP00000258991:D84Y	ENSP00000258991:D84Y	D	-	1	0	TEX2	59645060	0.994000	0.37717	0.990000	0.47175	0.052000	0.14988	2.701000	0.47094	2.320000	0.78422	0.313000	0.20887	GAC		0.577	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		97	160	1	0	1.26e-39	1.95e-39	97	160				
PITPNC1	26207	broad.mit.edu	37	17	65628289	65628289	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:65628289A>T	ENST00000581322.1	+	6	397	c.397A>T	c.(397-399)Aga>Tga	p.R133*	PITPNC1_ENST00000580974.1_Nonsense_Mutation_p.R133*|PITPNC1_ENST00000335257.6_Nonsense_Mutation_p.R133*|PITPNC1_ENST00000299954.9_Nonsense_Mutation_p.R133*			Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	133					phospholipid transport (GO:0015914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)			breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			AGACGTGGAGAGAGAAGTTTG	0.433																																						uc002jgc.2		NA																	0				skin(1)	1						c.(397-399)AGA>TGA		phosphatidylinositol transfer protein,							116.0	110.0	112.0					17																	65628289		1910	4132	6042	SO:0001587	stop_gained	26207				signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding	g.chr17:65628289A>T	AF171102	CCDS58587.1, CCDS58588.1	17q24.3	2008-02-05							21045	protein-coding gene	gene with protein product		605134				10531358	Standard	NM_012417		Approved	RDGBB1, RDGBB, RDGB-BETA	uc002jgc.4	Q9UKF7		ENST00000581322.1:c.397A>T	17.37:g.65628289A>T	ENSP00000464006:p.Arg133*					PITPNC1_uc002jgb.2_Nonsense_Mutation_p.R133*	p.R133*	NM_012417	NP_036549	Q9UKF7	PITC1_HUMAN	BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)		6	744	+	all_cancers(12;3.03e-10)		133					A8K473|J3QR20|Q96I07	Nonsense_Mutation	SNP	ENST00000581322.1	37	c.397A>T	CCDS58588.1	.	.	.	.	.	.	.	.	.	.	A	42	9.485218	0.99184	.	.	ENSG00000154217	ENST00000335257;ENST00000299954	.	.	.	5.58	3.12	0.35913	.	0.153062	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.3919	12.7507	0.57306	0.731:0.269:0.0:0.0	.	.	.	.	X	133	.	ENSP00000299954:R133X	R	+	1	2	PITPNC1	63058751	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.940000	0.49003	0.916000	0.36871	0.402000	0.26972	AGA		0.433	PITPNC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447194.1	NM_012417		22	32	0	0	0	0	22	32				
NOL11	25926	broad.mit.edu	37	17	65722658	65722658	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:65722658G>A	ENST00000253247.4	+	7	862	c.747G>A	c.(745-747)ctG>ctA	p.L249L	NOL11_ENST00000535137.1_Silent_p.L67L	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	249					maturation of SSU-rRNA (GO:0030490)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTAAATCACTGCTGCTCAAGG	0.458																																						uc002jgd.1		NA																	0					0						c.(745-747)CTG>CTA		nucleolar protein 11							97.0	82.0	87.0					17																	65722658		2203	4300	6503	SO:0001819	synonymous_variant	25926					nucleolus		g.chr17:65722658G>A	AK023702	CCDS11671.1	17q24.2	2005-08-08							24557	protein-coding gene	gene with protein product		615366				12477932	Standard	NM_015462		Approved	DKFZP586L0724	uc002jgd.1	Q9H8H0		ENST00000253247.4:c.747G>A	17.37:g.65722658G>A						NOL11_uc010wql.1_Silent_p.L67L|NOL11_uc010deu.1_5'UTR	p.L249L	NM_015462	NP_056277	Q9H8H0	NOL11_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)		7	750	+	all_cancers(12;1.54e-10)		249					B7Z5V9|Q7L5S1|Q9UG18	Silent	SNP	ENST00000253247.4	37	c.747G>A	CCDS11671.1																																																																																				0.458	NOL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448074.1	NM_015462		33	42	0	0	0	0	33	42				
ENOSF1	55556	broad.mit.edu	37	18	677394	677394	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr18:677394G>A	ENST00000251101.7	-	14	1187	c.1099C>T	c.(1099-1101)Cac>Tac	p.H367Y	ENOSF1_ENST00000340116.7_Missense_Mutation_p.H374Y|ENOSF1_ENST00000319815.6_Missense_Mutation_p.H137Y|ENOSF1_ENST00000580982.1_Missense_Mutation_p.H291Y|ENOSF1_ENST00000583973.1_5'UTR|ENOSF1_ENST00000383578.3_Missense_Mutation_p.H285Y	NM_017512.5	NP_059982.2	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	367					cellular amino acid catabolic process (GO:0009063)|cellular carbohydrate catabolic process (GO:0044275)	mitochondrion (GO:0005739)	isomerase activity (GO:0016853)|L-fuconate dehydratase activity (GO:0050023)|magnesium ion binding (GO:0000287)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						ATAATCAGGTGCTGCACCAGT	0.433																																						uc002kku.3		NA																	0				ovary(1)	1						c.(1099-1101)CAC>TAC		enolase superfamily 1 isoform rTS beta							83.0	85.0	84.0					18																	677394		2203	4300	6503	SO:0001583	missense	55556				cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding	g.chr18:677394G>A	X67098	CCDS11822.1, CCDS11823.1, CCDS45821.1	18p11.32	2005-01-26			ENSG00000132199	ENSG00000132199			30365	protein-coding gene	gene with protein product		607427				14508106	Standard	NM_001126123		Approved	HSRTSBETA, rTS, TYMSAS	uc002kku.4	Q7L5Y1	OTTHUMG00000131470	ENST00000251101.7:c.1099C>T	18.37:g.677394G>A	ENSP00000251101:p.His367Tyr					ENOSF1_uc002kkt.3_Missense_Mutation_p.H285Y|ENOSF1_uc010dke.2_RNA|ENOSF1_uc010dkf.2_Missense_Mutation_p.H374Y|ENOSF1_uc002kkv.3_Missense_Mutation_p.H354Y|ENOSF1_uc002kkw.3_Missense_Mutation_p.H186Y|ENOSF1_uc002kkx.3_Missense_Mutation_p.H291Y	p.H367Y	NM_017512	NP_059982	Q7L5Y1	ENOF1_HUMAN			14	1174	-			367					A6NMP3|A8K9R5|B3KSL6|B3KXE4|D3DUH0|Q15407|Q15594|Q15595|Q6ZS08|Q9HAS5|Q9HAS6	Missense_Mutation	SNP	ENST00000251101.7	37	c.1099C>T	CCDS11822.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.582944	0.86748	.	.	ENSG00000132199	ENST00000383578;ENST00000319815;ENST00000251101;ENST00000340116	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.74137	0.3677	M	0.91663	3.23	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.996;0.999;0.984;0.997	T	0.77768	-0.2464	10	0.59425	D	0.04	.	20.4588	0.99160	0.0:0.0:1.0:0.0	.	374;186;398;367;285	A6NMP3;B3KXE4;Q6ZS08;Q7L5Y1;Q7L5Y1-2	.;.;.;ENOF1_HUMAN;.	Y	285;137;367;374	ENSP00000373072:H285Y;ENSP00000313346:H137Y;ENSP00000251101:H367Y;ENSP00000345974:H374Y	ENSP00000251101:H367Y	H	-	1	0	ENOSF1	667394	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.609000	0.98334	2.835000	0.97688	0.655000	0.94253	CAC		0.433	ENOSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254312.2	NM_017512		6	129	0	0	0	0	6	129				
EPB41L3	23136	broad.mit.edu	37	18	5397201	5397201	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr18:5397201C>A	ENST00000341928.2	-	18	3037	c.2697G>T	c.(2695-2697)gaG>gaT	p.E899D	EPB41L3_ENST00000540638.2_Missense_Mutation_p.E677D|EPB41L3_ENST00000427684.2_Missense_Mutation_p.E196D|EPB41L3_ENST00000400111.3_Missense_Mutation_p.E677D|EPB41L3_ENST00000342933.3_Missense_Mutation_p.E899D|EPB41L3_ENST00000544123.1_Missense_Mutation_p.E730D|EPB41L3_ENST00000542146.1_Missense_Mutation_p.E204D|EPB41L3_ENST00000542652.2_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	899	C-terminal (CTD).				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CTTTAGCCCCCTCCGTCAAGG	0.602																																						uc002kmt.1		NA																	0				ovary(5)	5						c.(2695-2697)GAG>GAT		erythrocyte membrane protein band 4.1-like 3							119.0	99.0	106.0					18																	5397201		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5397201C>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2697G>T	18.37:g.5397201C>A	ENSP00000343158:p.Glu899Asp					EPB41L3_uc010wzh.1_Missense_Mutation_p.E730D|EPB41L3_uc002kmu.1_Missense_Mutation_p.E677D|EPB41L3_uc010dkq.1_Missense_Mutation_p.E568D|EPB41L3_uc002kms.1_Missense_Mutation_p.E134D|EPB41L3_uc010wze.1_Missense_Mutation_p.E204D|EPB41L3_uc010wzf.1_Missense_Mutation_p.E196D|EPB41L3_uc010wzg.1_Missense_Mutation_p.E171D|EPB41L3_uc010dkr.2_Missense_Mutation_p.E291D	p.E899D	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			18	2783	-			899			Carboxyl-terminal (CTD).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.2697G>T	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	C	9.819	1.185270	0.21870	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68	5.78	3.33	0.38152	.	0.733078	0.13392	N	0.391344	T	0.60117	0.2244	M	0.62723	1.935	0.34679	D	0.724467	D;D;P;P;B;B;P;P	0.67145	0.992;0.996;0.812;0.615;0.0;0.218;0.462;0.839	D;D;P;B;B;B;B;B	0.75484	0.984;0.986;0.749;0.141;0.001;0.158;0.141;0.218	T	0.60424	-0.7266	10	0.15952	T	0.53	.	8.9433	0.35742	0.0:0.7561:0.1322:0.1117	.	730;196;204;291;568;677;899;134	F5GX05;E7EUF8;F5H7W5;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2;B3KT50	.;.;.;.;.;.;E41L3_HUMAN;.	D	899;568;730;568;196;204;899;677	ENSP00000343158:E899D;ENSP00000441174:E730D;ENSP00000392195:E196D;ENSP00000442233:E204D;ENSP00000341138:E899D;ENSP00000382981:E677D	ENSP00000343158:E899D	E	-	3	2	EPB41L3	5387201	0.401000	0.25303	0.007000	0.13788	0.050000	0.14768	1.018000	0.30002	0.440000	0.26502	0.591000	0.81541	GAG		0.602	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		175	53	1	0	2.61e-80	4.1e-80	175	53				
PTPRM	5797	broad.mit.edu	37	18	7888335	7888335	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr18:7888335C>A	ENST00000332175.8	+	3	1465	c.428C>A	c.(427-429)gCa>gAa	p.A143E	PTPRM_ENST00000400053.4_Missense_Mutation_p.A81E|PTPRM_ENST00000400060.4_Missense_Mutation_p.A143E|PTPRM_ENST00000580170.1_Missense_Mutation_p.A143E	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	143	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TGGAACAGGGCAGAACTGGCC	0.403																																						uc002knn.3		NA																	0				lung(3)|ovary(2)|central_nervous_system(1)	6						c.(427-429)GCA>GAA		protein tyrosine phosphatase, receptor type, M							77.0	79.0	78.0					18																	7888335		2203	4300	6503	SO:0001583	missense	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:7888335C>A	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.428C>A	18.37:g.7888335C>A	ENSP00000331418:p.Ala143Glu					PTPRM_uc010dkv.2_Missense_Mutation_p.A143E	p.A143E	NM_002845	NP_002836	P28827	PTPRM_HUMAN			3	931	+		Colorectal(10;0.234)	143			MAM.|Extracellular (Potential).		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.428C>A	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.263752	0.80358	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053	T;T;T	0.02395	4.31;4.31;4.31	6.07	6.07	0.98685	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.111909	0.64402	D	0.000011	T	0.16041	0.0386	M	0.80028	2.48	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74674	0.984;0.984	T	0.00002	-1.2621	10	0.87932	D	0	.	14.7663	0.69642	0.0:0.9316:0.0:0.0684	.	143;143	A7MBN1;P28827	.;PTPRM_HUMAN	E	143;143;81	ENSP00000331418:A143E;ENSP00000382933:A143E;ENSP00000382927:A81E	ENSP00000331418:A143E	A	+	2	0	PTPRM	7878335	0.813000	0.29090	1.000000	0.80357	0.971000	0.66376	1.532000	0.36029	2.885000	0.99019	0.655000	0.94253	GCA		0.403	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			7	145	1	0	5.49e-09	6.85e-09	7	145				
PTPRM	5797	broad.mit.edu	37	18	8113617	8113617	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr18:8113617G>T	ENST00000332175.8	+	12	3027	c.1990G>T	c.(1990-1992)Gaa>Taa	p.E664*	PTPRM_ENST00000400053.4_Nonsense_Mutation_p.E602*|PTPRM_ENST00000444013.1_Nonsense_Mutation_p.E451*|PTPRM_ENST00000400060.4_Nonsense_Mutation_p.E664*|PTPRM_ENST00000578571.1_3'UTR|PTPRM_ENST00000580170.1_Nonsense_Mutation_p.E664*	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	664	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CTTTGCTGCAGAATTTCCTGC	0.428																																						uc002knn.3		NA																	0				lung(3)|ovary(2)|central_nervous_system(1)	6						c.(1990-1992)GAA>TAA		protein tyrosine phosphatase, receptor type, M							112.0	107.0	109.0					18																	8113617		2203	4300	6503	SO:0001587	stop_gained	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:8113617G>T	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.1990G>T	18.37:g.8113617G>T	ENSP00000331418:p.Glu664*					PTPRM_uc010dkv.2_Nonsense_Mutation_p.E664*|PTPRM_uc010wzl.1_Nonsense_Mutation_p.E451*	p.E664*	NM_002845	NP_002836	P28827	PTPRM_HUMAN			12	2493	+		Colorectal(10;0.234)	664			Fibronectin type-III 4.|Extracellular (Potential).		A7MBN1|D3DUH8|J3QL11	Nonsense_Mutation	SNP	ENST00000332175.8	37	c.1990G>T	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	G	49	14.928553	0.99816	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	.	.	.	5.84	5.84	0.93424	.	0.107611	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	20.1535	0.98095	0.0:0.0:1.0:0.0	.	.	.	.	X	664;664;602;451	.	ENSP00000331418:E664X	E	+	1	0	PTPRM	8103617	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	5.905000	0.69893	2.764000	0.94973	0.650000	0.86243	GAA		0.428	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			125	37	1	0	2.6e-83	4.1e-83	125	37				
MTCL1	23255	broad.mit.edu	37	18	8786039	8786039	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr18:8786039G>A	ENST00000306329.11	+	6	2917	c.2917G>A	c.(2917-2919)Ggg>Agg	p.G973R	SOGA2_ENST00000400050.3_Missense_Mutation_p.G613R|SOGA2_ENST00000517570.1_Missense_Mutation_p.G613R|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000359865.3_Missense_Mutation_p.G613R																							CCGCGCAGACGGGGACACCGG	0.726																																						uc002knr.2		NA																	0					0						c.(1837-1839)GGG>AGG		hypothetical protein LOC23255							13.0	12.0	13.0					18																	8786039		2096	4000	6096	SO:0001583	missense	23255							g.chr18:8786039G>A																												ENST00000306329.11:c.2917G>A	18.37:g.8786039G>A	ENSP00000305027:p.Gly973Arg					KIAA0802_uc002knq.2_Missense_Mutation_p.G613R|KIAA0802_uc010dkw.1_Missense_Mutation_p.G451R	p.G613R	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN			7	1979	+			964						Missense_Mutation	SNP	ENST00000306329.11	37	c.1837G>A		.	.	.	.	.	.	.	.	.	.	G	14.47	2.543769	0.45280	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050	T;T;T	0.56103	0.48;0.48;0.48	5.54	5.54	0.83059	.	0.167273	0.29558	N	0.011811	T	0.63105	0.2483	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.991;0.996	T	0.53669	-0.8406	10	0.12103	T	0.63	-47.1933	19.48	0.95005	0.0:0.0:1.0:0.0	.	634;613	A8MQ54;Q9Y4B5-3	.;.	R	634;613;613;613	ENSP00000429556:G613R;ENSP00000352927:G613R;ENSP00000382924:G613R	ENSP00000305027:G634R	G	+	1	0	CCDC165	8776039	1.000000	0.71417	0.956000	0.39512	0.118000	0.20060	8.228000	0.89789	2.606000	0.88127	0.655000	0.94253	GGG		0.726	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			17	3	0	0	0	0	17	3				
GNAL	2774	broad.mit.edu	37	18	11868555	11868555	+	Silent	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr18:11868555C>T	ENST00000423027.3	+	9	1014	c.693C>T	c.(691-693)atC>atT	p.I231I	GNAL_ENST00000535121.1_Silent_p.I231I|GNAL_ENST00000334049.6_Silent_p.I308I|GNAL_ENST00000602628.1_Silent_p.I24I|GNAL_ENST00000269162.5_Silent_p.I231I			P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	231					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|response to amphetamine (GO:0001975)|response to caffeine (GO:0031000)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						TCACAGCTATCATTTACGTCG	0.463																																						uc010dkz.2		NA																	0				ovary(1)	1						c.(691-693)ATC>ATT		guanine nucleotide binding protein (G protein),							174.0	151.0	159.0					18																	11868555		2203	4300	6503	SO:0001819	synonymous_variant	2774				activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr18:11868555C>T	AF493893	CCDS11851.1, CCDS11852.1, CCDS58614.1	18p11.22-p11.21	2003-12-17			ENSG00000141404	ENSG00000141404			4388	protein-coding gene	gene with protein product		139312				1302014	Standard	NM_182978		Approved		uc002kqc.3	P38405	OTTHUMG00000131660	ENST00000423027.3:c.693C>T	18.37:g.11868555C>T						GNAL_uc002kqc.2_Silent_p.I308I|GNAL_uc002kqd.2_Silent_p.I231I|GNAL_uc010wzt.1_Silent_p.I24I	p.I231I	NM_001142339	NP_001135811	P38405	GNAL_HUMAN			10	939	+			231					B7ZA26|Q86XU3	Silent	SNP	ENST00000423027.3	37	c.693C>T	CCDS11852.1																																																																																				0.463	GNAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254561.2	NM_182978, NM_002071		11	223	0	0	0	0	11	223				
POTEC	388468	broad.mit.edu	37	18	14542920	14542920	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr18:14542920C>T	ENST00000358970.5	-	1	225	c.226G>A	c.(226-228)Ggc>Agc	p.G76S	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	76										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTGCTCGTGCCGCTCCCCCTG	0.572																																						uc010dln.2		NA																	0				skin(3)	3						c.(226-228)GGC>AGC		ANKRD26-like family B, member 2							42.0	52.0	49.0					18																	14542920		692	1591	2283	SO:0001583	missense	388468							g.chr18:14542920C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.226G>A	18.37:g.14542920C>T	ENSP00000351856:p.Gly76Ser					POTEC_uc010xaj.1_RNA	p.G76S	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN			1	680	-			76						Missense_Mutation	SNP	ENST00000358970.5	37	c.226G>A	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	C	7.632	0.679126	0.14907	.	.	ENSG00000183206	ENST00000358970;ENST00000389891	T	0.32988	1.43	0.429	0.429	0.16506	.	.	.	.	.	T	0.23289	0.0563	L	0.46157	1.445	0.09310	N	1	B	0.26002	0.139	B	0.13407	0.009	T	0.20438	-1.0275	8	0.52906	T	0.07	.	.	.	.	.	76	B2RU33	POTEC_HUMAN	S	76	ENSP00000351856:G76S	ENSP00000351856:G76S	G	-	1	0	POTEC	14532920	0.001000	0.12720	0.001000	0.08648	0.006000	0.05464	0.050000	0.14120	0.472000	0.27344	0.175000	0.17021	GGC		0.572	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		14	402	0	0	0	0	14	402				
EPG5	57724	broad.mit.edu	37	18	43492360	43492360	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr18:43492360C>A	ENST00000282041.5	-	22	3912	c.3878G>T	c.(3877-3879)cGc>cTc	p.R1293L	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1293					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GTGGGCCCAGCGATAAATCAG	0.537																																						uc002lbm.2		NA																	0					0						c.(3877-3879)CGC>CTC		hypothetical protein LOC57724							59.0	67.0	65.0					18																	43492360		1919	4116	6035	SO:0001583	missense	57724				autophagy			g.chr18:43492360C>A	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.3878G>T	18.37:g.43492360C>A	ENSP00000282041:p.Arg1293Leu					KIAA1632_uc002lbo.1_Missense_Mutation_p.R1293L|KIAA1632_uc010xcq.1_5'UTR|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Missense_Mutation_p.R168L	p.R1293L	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN			22	3978	-			1293					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.3878G>T	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	C	35	5.473746	0.96291	.	.	ENSG00000152223	ENST00000282041;ENST00000308403	D	0.94457	-3.43	5.45	5.45	0.79879	.	1.070950	0.07147	N	0.848479	D	0.97539	0.9194	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.93926	0.7210	10	0.87932	D	0	-14.4693	19.2954	0.94119	0.0:1.0:0.0:0.0	.	1293;1293	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	L	1293;168	ENSP00000282041:R1293L	ENSP00000282041:R1293L	R	-	2	0	EPG5	41746358	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	7.743000	0.85020	2.572000	0.86782	0.650000	0.86243	CGC		0.537	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		6	75	1	0	1.07e-07	1.29e-07	6	75				
DCC	1630	broad.mit.edu	37	18	50866223	50866223	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr18:50866223G>A	ENST00000442544.2	+	15	2921	c.2305G>A	c.(2305-2307)Gct>Act	p.A769T	DCC_ENST00000581580.1_Missense_Mutation_p.A424T|DCC_ENST00000412726.1_Missense_Mutation_p.A617T	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	769	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		GAGCCCTTACGCTGAGACAGT	0.448																																						uc002lfe.1		NA																	0				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(2305-2307)GCT>ACT		netrin receptor DCC precursor							159.0	132.0	141.0					18																	50866223		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.chr18:50866223G>A	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.2305G>A	18.37:g.50866223G>A	ENSP00000389140:p.Ala769Thr					DCC_uc010xdr.1_Missense_Mutation_p.A617T|DCC_uc010dpf.1_Missense_Mutation_p.A424T	p.A769T	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	15	2892	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	769			Extracellular (Potential).|Fibronectin type-III 4.			Missense_Mutation	SNP	ENST00000442544.2	37	c.2305G>A	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494373	0.64186	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.56776	2.0;0.44	5.17	5.17	0.71159	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	T	0.46678	0.1405	N	0.25890	0.77	0.54753	D	0.999981	B;B;P	0.46142	0.399;0.399;0.873	B;B;B	0.44163	0.117;0.117;0.443	T	0.48234	-0.9053	10	0.48119	T	0.1	.	17.7948	0.88566	0.0:0.0:1.0:0.0	.	617;617;769	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	T	769;702;617	ENSP00000389140:A769T;ENSP00000397322:A617T	ENSP00000304146:A702T	A	+	1	0	DCC	49120221	1.000000	0.71417	0.975000	0.42487	0.994000	0.84299	9.504000	0.97986	2.565000	0.86533	0.655000	0.94253	GCT		0.448	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		10	31	0	0	0	0	10	31				
CDH7	1005	broad.mit.edu	37	18	63547683	63547683	+	Silent	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr18:63547683C>A	ENST00000397968.2	+	12	2337	c.1911C>A	c.(1909-1911)ccC>ccA	p.P637P	CDH7_ENST00000323011.3_Silent_p.P637P	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	637					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				AAAAAGAGCCCCTTATTTTTG	0.458																																						uc002ljz.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1909-1911)CCC>CCA		cadherin 7, type 2 preproprotein							61.0	63.0	62.0					18																	63547683		2203	4300	6503	SO:0001819	synonymous_variant	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63547683C>A	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1911C>A	18.37:g.63547683C>A						CDH7_uc002lkb.2_Silent_p.P637P	p.P637P	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN			12	2236	+		Esophageal squamous(42;0.129)	637			Cytoplasmic (Potential).		Q9H157	Silent	SNP	ENST00000397968.2	37	c.1911C>A	CCDS11993.1																																																																																				0.458	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		10	18	1	0	0.000442599	0.000483749	10	18				
TSHZ1	10194	broad.mit.edu	37	18	72997606	72997606	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr18:72997606A>T	ENST00000580243.1	+	2	592	c.244A>T	c.(244-246)Agc>Tgc	p.S82C	TSHZ1_ENST00000322038.5_Missense_Mutation_p.S37C			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	82	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CAGTGAGAGCAGCGACCAGCT	0.597																																						uc002lly.2		NA																	0					0						c.(109-111)AGC>TGC		teashirt family zinc finger 1							51.0	51.0	51.0					18																	72997606		2203	4300	6503	SO:0001583	missense	10194					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:72997606A>T	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.244A>T	18.37:g.72997606A>T	ENSP00000464391:p.Ser82Cys						p.S37C	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)	2	672	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	82			Ser-rich.		O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	ENST00000580243.1	37	c.109A>T		.	.	.	.	.	.	.	.	.	.	A	16.05	3.012622	0.54468	.	.	ENSG00000179981	ENST00000322038	T	0.25749	1.78	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.47600	0.1454	L	0.58810	1.83	0.54753	D	0.99998	D	0.89917	1.0	D	0.83275	0.996	T	0.47086	-0.9144	10	0.87932	D	0	-21.9575	14.8591	0.70366	1.0:0.0:0.0:0.0	.	82	Q6ZSZ6	TSH1_HUMAN	C	37	ENSP00000323584:S37C	ENSP00000323584:S37C	S	+	1	0	TSHZ1	71126594	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	7.165000	0.77544	2.364000	0.80123	0.655000	0.94253	AGC		0.597	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		9	10	0	0	0	0	9	10				
ANKRD24	170961	broad.mit.edu	37	19	4216937	4216937	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:4216937G>T	ENST00000600132.1	+	18	2056	c.1780G>T	c.(1780-1782)Gcc>Tcc	p.A594S	ANKRD24_ENST00000318934.4_Missense_Mutation_p.A594S|ANKRD24_ENST00000262970.5_Missense_Mutation_p.A684S	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	594										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		GGCCACAGGAGCCAAGGTCAC	0.562																																						uc010dtt.1		NA																	0					0						c.(1780-1782)GCC>TCC		ankyrin repeat domain 24							34.0	39.0	37.0					19																	4216937		2042	4197	6239	SO:0001583	missense	170961							g.chr19:4216937G>T	AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"""Ankyrin repeat domain containing"""	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.1780G>T	19.37:g.4216937G>T	ENSP00000471252:p.Ala594Ser					ANKRD24_uc002lzs.2_Missense_Mutation_p.A565S|ANKRD24_uc002lzt.2_Missense_Mutation_p.A566S	p.A594S	NM_133475	NP_597732	Q8TF21	ANR24_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)	18	2056	+			594					O75268|O95781	Missense_Mutation	SNP	ENST00000600132.1	37	c.1780G>T	CCDS45925.1	.	.	.	.	.	.	.	.	.	.	g	11.24	1.580372	0.28180	.	.	ENSG00000089847	ENST00000318934;ENST00000262970	T;T	0.36520	1.33;1.25	3.39	-1.65	0.08291	.	0.502186	0.14873	N	0.293413	T	0.12732	0.0309	N	0.08118	0	0.09310	N	1	B;B	0.20671	0.01;0.047	B;B	0.18561	0.01;0.022	T	0.19745	-1.0296	10	0.18710	T	0.47	-4.5698	2.1973	0.03914	0.1899:0.1518:0.5025:0.1557	.	594;684	Q8TF21;Q8TF21-2	ANR24_HUMAN;.	S	594;684	ENSP00000321731:A594S;ENSP00000262970:A684S	ENSP00000262970:A684S	A	+	1	0	ANKRD24	4167937	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-2.078000	0.01370	-0.185000	0.10550	0.205000	0.17691	GCC		0.562	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	XM_114000		3	11	1	0	0.004672	0.00493652	3	11				
MUC16	94025	broad.mit.edu	37	19	9074423	9074423	+	Silent	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:9074423G>T	ENST00000397910.4	-	3	13226	c.13023C>A	c.(13021-13023)acC>acA	p.T4341T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4343	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTGTGTCTTGGTGACATGAG	0.483																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(13021-13023)ACC>ACA		mucin 16							106.0	111.0	109.0					19																	9074423		2085	4207	6292	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9074423G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.13023C>A	19.37:g.9074423G>T							p.T4341T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	13227	-			4343			Thr-rich.|Extracellular (Potential).|Ser-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.13023C>A	CCDS54212.1																																																																																				0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	26	1	0	1.07e-07	1.29e-07	4	26				
CDC37	11140	broad.mit.edu	37	19	10505718	10505718	+	Silent	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:10505718C>A	ENST00000222005.2	-	5	758	c.705G>T	c.(703-705)cgG>cgT	p.R235R		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	235					protein targeting (GO:0006605)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		TGAAGAACTGCCGGAAGCAGG	0.587																																						uc002mof.1		NA																	0					0						c.(703-705)CGG>CGT		cell division cycle 37 protein							56.0	59.0	58.0					19																	10505718		2203	4300	6503	SO:0001819	synonymous_variant	11140				protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding	g.chr19:10505718C>A	U63131	CCDS12237.1	19p13.2	2013-01-17	2013-01-17		ENSG00000105401	ENSG00000105401			1735	protein-coding gene	gene with protein product	"""CDC37 cell division cycle 37 homolog"", ""Hsp90 co-chaperone Cdc37"", ""CDC37 (cell division cycle 37, S. cerevisiae, homolog)"""	605065	"""CDC37 (cell division cycle 37, S. cerevisiae, homolog)"", ""CDC37 cell division cycle 37 homolog (S. cerevisiae)"", ""cell division cycle 37 homolog (S. cerevisiae)"""			8703009, 8666233	Standard	NM_007065		Approved	P50CDC37	uc002mof.1	Q16543		ENST00000222005.2:c.705G>T	19.37:g.10505718C>A						CDC37_uc002moe.1_Silent_p.R190R|CDC37_uc010dxf.1_Silent_p.R72R|CDC37_uc002mog.1_Intron|CDC37_uc002moh.2_Silent_p.R235R	p.R235R	NM_007065	NP_008996	Q16543	CDC37_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)	5	821	-			235					Q53YA2	Silent	SNP	ENST00000222005.2	37	c.705G>T	CCDS12237.1																																																																																				0.587	CDC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451987.1	NM_007065		78	22	1	0	4.98e-18	6.98e-18	78	22				
ZNF878	729747	broad.mit.edu	37	19	12154763	12154763	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:12154763C>G	ENST00000547628.1	-	4	1590	c.1453G>C	c.(1453-1455)Ggg>Cgg	p.G485R	ZNF878_ENST00000602107.1_Missense_Mutation_p.G532R|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	485					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AAGGCTTTCCCACACTGTTTA	0.383																																						uc002mta.1		NA																	0					0						c.(1594-1596)GGG>CGG		zinc finger protein 878							62.0	71.0	68.0					19																	12154763		2193	4297	6490	SO:0001583	missense	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12154763C>G		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.1453G>C	19.37:g.12154763C>G	ENSP00000447931:p.Gly485Arg						p.G532R	NM_001080404	NP_001073873	C9JN71	ZN878_HUMAN			5	1594	-			485			C2H2-type 14.			Missense_Mutation	SNP	ENST00000547628.1	37	c.1594G>C	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	C	14.55	2.569700	0.45798	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.01484	4.84	1.3	0.0871	0.14449	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06508	0.0167	M	0.67625	2.065	0.26852	N	0.968145	D	0.71674	0.998	D	0.70716	0.97	T	0.20605	-1.0270	9	0.56958	D	0.05	.	6.5133	0.22234	0.0:0.8221:0.0:0.1779	.	485	C9JN71	ZN878_HUMAN	R	485;532	ENSP00000447931:G485R	ENSP00000447931:G485R	G	-	1	0	AC022415.4;ZNF878	12015763	0.016000	0.18221	0.001000	0.08648	0.342000	0.28953	0.991000	0.29654	-0.134000	0.11516	0.313000	0.20887	GGG		0.383	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		49	13	0	0	0	0	49	13				
ZNF709	163051	broad.mit.edu	37	19	12577309	12577309	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:12577309A>C	ENST00000397732.3	-	3	326	c.155T>G	c.(154-156)aTt>aGt	p.I52S	ZNF709_ENST00000428311.1_Missense_Mutation_p.I52S|CTD-3105H18.18_ENST00000598753.1_Missense_Mutation_p.I52S	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	52	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)			large_intestine(3)|upper_aerodigestive_tract(3)	6						GTGATCTTCAATGTTCTTCTC	0.338																																					GBM(33;565 669 12371 29134 51667)	uc002mtv.3		NA																	0					0						c.(154-156)ATT>AGT		zinc finger protein 709 isoform a							183.0	164.0	170.0					19																	12577309		1843	4078	5921	SO:0001583	missense	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12577309A>C	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"""Zinc fingers, C2H2-type"", ""-"""	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.155T>G	19.37:g.12577309A>C	ENSP00000380840:p.Ile52Ser					ZNF709_uc002mtw.3_Missense_Mutation_p.I20S|ZNF709_uc002mtx.3_Missense_Mutation_p.I52S	p.I52S	NM_152601	NP_689814	Q8N972	ZN709_HUMAN			3	316	-			52			KRAB.		A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	c.155T>G	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	A	2.716	-0.267684	0.05754	.	.	ENSG00000242852;ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000455490;ENST00000428311	T;T;T	0.00848	5.62;5.62;5.62	2.85	-5.7	0.02421	Krueppel-associated box (3);	2.082940	0.02768	N	0.119420	T	0.01320	0.0043	L	0.42008	1.315	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.35549	-0.9784	10	0.31617	T	0.26	.	12.7865	0.57510	0.2562:0.1033:0.6405:0.0	.	52	Q8N972	ZN709_HUMAN	S	52;81;52	ENSP00000380840:I52S;ENSP00000398085:I81S;ENSP00000404127:I52S	ENSP00000404127:I52S	I	-	2	0	ZNF709;CTD-2192J16.17	12438309	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-4.413000	0.00238	-3.689000	0.00120	-1.751000	0.00678	ATT		0.338	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		7	113	0	0	0	0	7	113				
WIZ	58525	broad.mit.edu	37	19	15537872	15537872	+	Silent	SNP	C	C	A	rs374089802	byFrequency	TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:15537872C>A	ENST00000389282.4	-	6	3786	c.3573G>T	c.(3571-3573)ccG>ccT	p.P1191P	WIZ_ENST00000599910.2_Silent_p.P508P|WIZ_ENST00000599686.3_Silent_p.P375P|WIZ_ENST00000545156.1_Silent_p.P505P|WIZ_ENST00000263381.7_Silent_p.P334P			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1191					positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.E331fs*9(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						GAAGGGCCCCCGGCAGCATCT	0.607																																						uc002nbc.2		NA																	1	Deletion - Frameshift(1)		ovary(1)		0						c.(1522-1524)CCG>CCT		widely-interspaced zinc finger motifs							50.0	52.0	52.0					19																	15537872		1903	4113	6016	SO:0001819	synonymous_variant	58525					nucleus	zinc ion binding	g.chr19:15537872C>A	AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"""Zinc fingers, C2H2-type"""	30917	protein-coding gene	gene with protein product			"""WIZ zinc finger"""			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.3573G>T	19.37:g.15537872C>A						WIZ_uc002nba.3_Silent_p.P375P|WIZ_uc002nbb.3_Silent_p.P334P	p.P508P	NM_021241	NP_067064	O95785	WIZ_HUMAN			4	1547	-			1191					B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Silent	SNP	ENST00000389282.4	37	c.1524G>T																																																																																					0.607	WIZ-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021241		75	22	1	0	5.02e-34	7.69e-34	75	22				
PIK3R2	5296	broad.mit.edu	37	19	18271316	18271316	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:18271316C>T	ENST00000593731.1	+	3	918	c.358C>T	c.(358-360)Cca>Tca	p.P120S	PIK3R2_ENST00000222254.8_Missense_Mutation_p.P120S			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	120	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24					Isoprenaline(DB01064)	GCAGTTCTCCCCACCTGATGT	0.602																																						uc002nia.1		NA																	0				lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)	6						c.(358-360)CCA>TCA		phosphoinositide-3-kinase, regulatory subunit 2							100.0	82.0	88.0					19																	18271316		2203	4300	6503	SO:0001583	missense	5296				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding	g.chr19:18271316C>T		CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647		"""SH2 domain containing"""	8980	protein-coding gene	gene with protein product		603157				1314371	Standard	NM_005027		Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.358C>T	19.37:g.18271316C>T	ENSP00000471914:p.Pro120Ser					PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA	p.P120S	NM_005027	NP_005018	O00459	P85B_HUMAN			3	870	+			120			Rho-GAP.		Q5EAT5|Q9UPH9	Missense_Mutation	SNP	ENST00000593731.1	37	c.358C>T	CCDS12371.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.061289	0.55432	.	.	ENSG00000105647	ENST00000222254	T	0.39592	1.07	4.45	4.45	0.53987	Rho GTPase-activating protein domain (1);Rho GTPase activation protein (1);	0.057496	0.64402	D	0.000001	T	0.44222	0.1283	L	0.58428	1.81	0.58432	D	0.999994	P	0.42248	0.774	B	0.41691	0.364	T	0.48736	-0.9009	10	0.46703	T	0.11	-17.2023	16.501	0.84256	0.0:1.0:0.0:0.0	.	120	O00459	P85B_HUMAN	S	120	ENSP00000222254:P120S	ENSP00000222254:P120S	P	+	1	0	PIK3R2	18132316	0.901000	0.30685	0.995000	0.50966	0.361000	0.29550	5.310000	0.65780	2.203000	0.70933	0.561000	0.74099	CCA		0.602	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000466386.2	NM_005027		29	34	0	0	0	0	29	34				
ZNF737	100129842	broad.mit.edu	37	19	20727787	20727787	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:20727787A>G	ENST00000427401.4	-	4	1316	c.1222T>C	c.(1222-1224)Tac>Cac	p.Y408H		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	408					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(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						GAAGAGGAGTACTTAAAGGCT	0.428																																						uc002npa.2		NA																	0				ovary(1)	1						c.(1222-1224)TAC>CAC		zinc finger protein 737							159.0	154.0	156.0					19																	20727787		692	1591	2283	SO:0001583	missense	100129842				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:20727787A>G	BC015765	CCDS54238.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.1222T>C	19.37:g.20727787A>G	ENSP00000395733:p.Tyr408His						p.Y408H	NM_001159293	NP_001152765	C9JHM3	C9JHM3_HUMAN			4	1402	-			408					C9JHM3	Missense_Mutation	SNP	ENST00000427401.4	37	c.1222T>C	CCDS54238.1	.	.	.	.	.	.	.	.	.	.	N	0.001	-3.094378	0.00034	.	.	ENSG00000237440	ENST00000427401	T	0.46451	0.87	0.801	-1.6	0.08426	.	.	.	.	.	T	0.12220	0.0297	N	0.00966	-1.09	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26052	-1.0114	9	0.13108	T	0.6	.	6.3532	0.21387	0.2631:0.0:0.7369:0.0	.	408	C9JHM3	.	H	408	ENSP00000395733:Y408H	ENSP00000395733:Y408H	Y	-	1	0	ZNF737	20519627	0.000000	0.05858	0.280000	0.24747	0.281000	0.26958	-7.908000	0.00028	-1.453000	0.01928	-1.495000	0.00966	TAC		0.428	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2	NM_145289		21	43	0	0	0	0	21	43				
KMT2B	9757	broad.mit.edu	37	19	36212275	36212275	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:36212275G>A	ENST00000222270.7	+	3	2026	c.2026G>A	c.(2026-2028)Gcc>Acc	p.A676T	KMT2B_ENST00000420124.1_Missense_Mutation_p.A676T|KMT2B_ENST00000341701.1_Splice_Site|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	676	Pro-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GGCTCCTGAAGCCCCTGAGCC	0.642																																						uc010eei.2		NA																	0				central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11						c.(2026-2028)GCC>ACC		myeloid/lymphoid or mixed-lineage leukemia 4							10.0	13.0	12.0					19																	36212275		1990	4137	6127	SO:0001583	missense	9757				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:36212275G>A	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.2026G>A	19.37:g.36212275G>A	ENSP00000222270:p.Ala676Thr						p.A676T	NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		3	2026	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		676			Pro-rich.		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.2026G>A	CCDS46055.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.77|12.77	2.038118|2.038118	0.35989|0.35989	.|.	.|.	ENSG00000105663|ENSG00000105663	ENST00000341701|ENST00000222270;ENST00000420124	.|D;D	.|0.83250	.|-1.7;-1.7	4.64|4.64	0.966|0.966	0.19667|0.19667	.|.	.|0.673299	.|0.12255	.|N	.|0.485267	.|T	.|0.58694	.|0.2140	N|N	0.03608|0.03608	-0.345|-0.345	0.23693|0.23693	N|N	0.997097|0.997097	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	.|T	.|0.45977	.|-0.9224	.|10	.|0.15066	.|T	.|0.55	.|.	6.7421|6.7421	0.23441|0.23441	0.1884:0.1595:0.6522:0.0|0.1884:0.1595:0.6522:0.0	.|.	.|676	.|Q9UMN6	.|MLL4_HUMAN	.|T	-1|676	.|ENSP00000222270:A676T;ENSP00000398837:A676T	.|ENSP00000222270:A676T	.|A	+|+	.|1	.|0	AD000671.1|AD000671.1	40904115|40904115	0.967000|0.967000	0.33354|0.33354	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	0.469000|0.469000	0.22067|0.22067	0.550000|0.550000	0.28991|0.28991	0.555000|0.555000	0.69702|0.69702	.|GCC		0.642	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		7	7	0	0	0	0	7	7				
ZNF568	374900	broad.mit.edu	37	19	37440567	37440567	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:37440567C>A	ENST00000333987.7	+	7	1018	c.512C>A	c.(511-513)tCa>tAa	p.S171*	ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000415168.1_Nonsense_Mutation_p.S107*	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	171					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTGTTACTTCAAGACAAAGC	0.338																																						uc002ofc.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(511-513)TCA>TAA		zinc finger protein 568							94.0	87.0	89.0					19																	37440567		1844	4089	5933	SO:0001587	stop_gained	374900				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37440567C>A	BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"""Zinc fingers, C2H2-type"", ""-"""	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000333987.7:c.512C>A	19.37:g.37440567C>A	ENSP00000334685:p.Ser171*					ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Nonsense_Mutation_p.S95*|ZNF568_uc010efe.2_Nonsense_Mutation_p.S95*|ZNF568_uc010eff.1_Intron	p.S171*	NM_198539	NP_940941	Q3ZCX4	ZN568_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		7	1027	+	Esophageal squamous(110;0.183)		171					B4DS92|E7ER33|Q6N060|Q8NA64	Nonsense_Mutation	SNP	ENST00000333987.7	37	c.512C>A	CCDS42558.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.790416	0.70337	.	.	ENSG00000198453	ENST00000333987;ENST00000415168	.	.	.	4.39	2.2	0.27929	.	0.984034	0.08228	N	0.978038	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	8.8796	0.35367	0.0:0.8115:0.0:0.1885	.	.	.	.	X	171;107	.	ENSP00000334685:S171X	S	+	2	0	ZNF568	42132407	0.000000	0.05858	0.012000	0.15200	0.414000	0.31173	-0.886000	0.04157	0.565000	0.29255	0.655000	0.94253	TCA		0.338	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109572.2	NM_198539		8	93	1	0	0.000157383	0.000174701	8	93				
GGN	199720	broad.mit.edu	37	19	38876144	38876144	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:38876144G>T	ENST00000334928.6	-	3	1890	c.1758C>A	c.(1756-1758)ttC>ttA	p.F586L	GGN_ENST00000591809.1_Intron|AC005789.9_ENST00000585411.1_RNA|SPRED3_ENST00000587013.1_5'Flank	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	586	Interactions with ZNF403/GGNBP2 and OAZ3. {ECO:0000250}.				cell differentiation (GO:0030154)|gamete generation (GO:0007276)|multicellular organismal development (GO:0007275)|protein localization (GO:0008104)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TAAGCACCTGGAAGGGCAGCC	0.667																																						uc002oij.1		NA																	0					0						c.(1756-1758)TTC>TTA		gametogenetin							43.0	30.0	35.0					19																	38876144		2203	4300	6503	SO:0001583	missense	199720				cell differentiation|multicellular organismal development|spermatogenesis			g.chr19:38876144G>T	AF538035	CCDS12516.1	19q13.2	2008-09-04				ENSG00000179168			18869	protein-coding gene	gene with protein product		609966				12574169	Standard	NM_152657		Approved	FLJ35713, MGC33369	uc002oij.1	Q86UU5		ENST00000334928.6:c.1758C>A	19.37:g.38876144G>T	ENSP00000334940:p.Phe586Leu					GGN_uc002oik.1_Intron|GGN_uc010efy.1_Intron	p.F586L	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		3	1893	-	all_cancers(60;3.4e-06)		586			Interactions with ZNF403/GGNBP2 and OAZ3 (By similarity).		Q7RTU6|Q86UU4|Q8NAA1	Missense_Mutation	SNP	ENST00000334928.6	37	c.1758C>A	CCDS12516.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.143537	0.77888	.	.	ENSG00000179168	ENST00000334928	.	.	.	3.57	3.57	0.40892	.	0.000000	0.42964	D	0.000627	T	0.57080	0.2029	L	0.29908	0.895	0.36504	D	0.869201	D	0.67145	0.996	D	0.70935	0.971	T	0.65643	-0.6118	9	0.62326	D	0.03	-0.6194	10.5283	0.44963	0.0:0.0:1.0:0.0	.	586	Q86UU5	GGN_HUMAN	L	586	.	ENSP00000334940:F586L	F	-	3	2	GGN	43567984	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.992000	0.56980	1.813000	0.52934	0.455000	0.32223	TTC		0.667	GGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459205.1	NM_152657		15	27	1	0	8.6e-14	1.16e-13	15	27				
FAM98C	147965	broad.mit.edu	37	19	38899416	38899416	+	Missense_Mutation	SNP	G	G	T	rs375320861		TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:38899416G>T	ENST00000252530.5	+	8	963	c.944G>T	c.(943-945)cGg>cTg	p.R315L	FAM98C_ENST00000343358.7_Missense_Mutation_p.R233L|FAM98C_ENST00000588262.1_Silent_p.P181P	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	315								p.R315L(1)		endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GTTCCAGACCGGGGGGGCCGC	0.562																																						uc002oin.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(943-945)CGG>CTG		hypothetical protein LOC147965							57.0	62.0	61.0					19																	38899416		1832	4072	5904	SO:0001583	missense	147965							g.chr19:38899416G>T		CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.944G>T	19.37:g.38899416G>T	ENSP00000252530:p.Arg315Leu					FAM98C_uc002oio.1_Missense_Mutation_p.R233L|FAM98C_uc010xtz.1_Silent_p.P181P	p.R315L	NM_174905	NP_777565	Q17RN3	FA98C_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		8	963	+	all_cancers(60;3.95e-06)		315					A6NMW3|Q66K45	Missense_Mutation	SNP	ENST00000252530.5	37	c.944G>T	CCDS42562.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.924758	0.92319	.	.	ENSG00000130244	ENST00000252530;ENST00000343358	T;T	0.59772	0.24;0.24	5.92	5.92	0.95590	.	3.077830	0.01239	N	0.008560	D	0.84120	0.5402	M	0.86864	2.845	0.37571	D	0.919448	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.68503	-0.5391	10	0.87932	D	0	-15.9732	17.8152	0.88630	0.0:0.0:1.0:0.0	.	233;315	Q17RN3-2;Q17RN3	.;FA98C_HUMAN	L	315;233	ENSP00000252530:R315L;ENSP00000340348:R233L	ENSP00000252530:R315L	R	+	2	0	FAM98C	43591256	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.524000	0.53495	2.804000	0.96469	0.655000	0.94253	CGG		0.562	FAM98C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459222.1	NM_174905		24	69	1	0	9.86e-18	1.38e-17	24	69				
NCCRP1	342897	broad.mit.edu	37	19	39691333	39691333	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:39691333G>C	ENST00000339852.4	+	6	787	c.765G>C	c.(763-765)gaG>gaC	p.E255D		NM_001001414.1	NP_001001414.1	Q6ZVX7	FBX50_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	255	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.				positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						ACCGCATGGAGCCTGGTGGGC	0.632																																					Melanoma(107;1207 1556 14956 29427 52130)	uc002okq.1		NA																	0				ovary(1)	1						c.(763-765)GAG>GAC		non-specific cytotoxic cell receptor protein 1							193.0	184.0	187.0					19																	39691333		2203	4300	6503	SO:0001583	missense	342897				protein catabolic process			g.chr19:39691333G>C	AK123941, BC067874	CCDS12529.1	19q13.2	2013-07-31	2008-11-19		ENSG00000188505	ENSG00000188505			33739	protein-coding gene	gene with protein product		615901					Standard	NM_001001414		Approved	LOC342897, NCCRP-1, FBXO50	uc002okq.1	Q6ZVX7		ENST00000339852.4:c.765G>C	19.37:g.39691333G>C	ENSP00000342137:p.Glu255Asp						p.E255D	NM_001001414	NP_001001414	Q6ZVX7	NCRP1_HUMAN			6	784	+			255			FBA.		Q6NVV5	Missense_Mutation	SNP	ENST00000339852.4	37	c.765G>C	CCDS12529.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.987835	0.35036	.	.	ENSG00000188505	ENST00000339852	T	0.29142	1.58	5.13	1.68	0.24146	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);	0.418093	0.25375	N	0.031140	T	0.24509	0.0594	L	0.36672	1.1	0.09310	N	0.999993	P	0.46784	0.884	P	0.48627	0.584	T	0.05699	-1.0869	10	0.44086	T	0.13	-22.7036	2.4356	0.04482	0.0991:0.1663:0.4492:0.2854	.	255	Q6ZVX7	NCRP1_HUMAN	D	255	ENSP00000342137:E255D	ENSP00000342137:E255D	E	+	3	2	NCCRP1	44383173	0.779000	0.28652	0.431000	0.26735	0.168000	0.22595	0.976000	0.29462	1.180000	0.42898	0.484000	0.47621	GAG		0.632	NCCRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463829.1	NM_001001414		121	196	0	0	0	0	121	196				
PRX	57716	broad.mit.edu	37	19	40909731	40909731	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:40909731C>G	ENST00000324001.7	-	5	336	c.66G>C	c.(64-66)gaG>gaC	p.E22D	PRX_ENST00000291825.7_Missense_Mutation_p.E22D	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	22	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCGCCTCCGTCTCCACGATAA	0.692																																						uc002onr.2		NA																	0				ovary(2)	2						c.(64-66)GAG>GAC		periaxin isoform 2							13.0	13.0	13.0					19																	40909731		2192	4276	6468	SO:0001583	missense	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40909731C>G	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.66G>C	19.37:g.40909731C>G	ENSP00000326018:p.Glu22Asp					PRX_uc002onq.2_5'UTR|PRX_uc002ons.2_Missense_Mutation_p.E22D	p.E22D	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		5	335	-			22			PDZ.		Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	c.66G>C	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	C	19.95	3.921492	0.73213	.	.	ENSG00000105227	ENST00000324001;ENST00000291825;ENST00000341562	T;T	0.03065	4.06;4.06	5.22	5.22	0.72569	PDZ/DHR/GLGF (2);	0.051632	0.85682	D	0.000000	T	0.12475	0.0303	L	0.54323	1.7	0.48975	D	0.999731	D;D	0.67145	0.958;0.996	P;D	0.76071	0.681;0.987	T	0.00989	-1.1489	10	0.38643	T	0.18	-33.7499	11.4363	0.50070	0.0:0.9151:0.0:0.0849	.	22;22	Q9BXM0-2;Q9BXM0	.;PRAX_HUMAN	D	22	ENSP00000326018:E22D;ENSP00000291825:E22D	ENSP00000291825:E22D	E	-	3	2	PRX	45601571	1.000000	0.71417	1.000000	0.80357	0.405000	0.30901	2.622000	0.46427	2.604000	0.88044	0.491000	0.48974	GAG		0.692	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		6	15	0	0	0	0	6	15				
TGFB1	7040	broad.mit.edu	37	19	41854358	41854358	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:41854358T>C	ENST00000221930.5	-	2	1224	c.358A>G	c.(358-360)Atc>Gtc	p.I120V	TMEM91_ENST00000539627.1_5'Flank	NM_000660.4	NP_000651.3	P01137	TGFB1_HUMAN	transforming growth factor, beta 1	120	Arm domain. {ECO:0000250}.				active induction of host immune response by virus (GO:0046732)|adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains (GO:0002460)|aging (GO:0007568)|ATP biosynthetic process (GO:0006754)|blood coagulation (GO:0007596)|branch elongation involved in mammary gland duct branching (GO:0060751)|cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cell-cell junction organization (GO:0045216)|cellular calcium ion homeostasis (GO:0006874)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to organic cyclic compound (GO:0071407)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation (GO:0002062)|common-partner SMAD protein phosphorylation (GO:0007182)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|defense response to fungus, incompatible interaction (GO:0009817)|digestive tract development (GO:0048565)|embryo development (GO:0009790)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition (GO:0001837)|evasion or tolerance of host defenses by virus (GO:0019049)|extracellular matrix assembly (GO:0085029)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|face morphogenesis (GO:0060325)|female pregnancy (GO:0007565)|frontal suture morphogenesis (GO:0060364)|germ cell migration (GO:0008354)|hematopoietic progenitor cell differentiation (GO:0002244)|hyaluronan catabolic process (GO:0030214)|inflammatory response (GO:0006954)|inner ear development (GO:0048839)|lens fiber cell differentiation (GO:0070306)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lymph node development (GO:0048535)|macrophage derived foam cell differentiation (GO:0010742)|mammary gland branching involved in thelarche (GO:0060744)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|modulation by virus of host morphology or physiology (GO:0019048)|mononuclear cell proliferation (GO:0032943)|myelination (GO:0042552)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA replication (GO:0008156)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of extracellular matrix disassembly (GO:0010716)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of ossification (GO:0030279)|negative regulation of phagocytosis (GO:0050765)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of T cell proliferation (GO:0042130)|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)|organ regeneration (GO:0031100)|ossification involved in bone remodeling (GO:0043932)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|phosphate-containing compound metabolic process (GO:0006796)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of bone mineralization (GO:0030501)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of exit from mitosis (GO:0031536)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of isotype switching to IgA isotypes (GO:0048298)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NAD+ ADP-ribosyltransferase activity (GO:1901666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of odontogenesis (GO:0042482)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein localization to nucleus (GO:1900182)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein secretion (GO:0050714)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein export from nucleus (GO:0006611)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|receptor catabolic process (GO:0032801)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of binding (GO:0051098)|regulation of blood vessel remodeling (GO:0060312)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of cartilage development (GO:0061035)|regulation of cell migration (GO:0030334)|regulation of DNA binding (GO:0051101)|regulation of miRNA metabolic process (GO:2000628)|regulation of protein import into nucleus (GO:0042306)|regulation of sodium ion transport (GO:0002028)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulatory T cell differentiation (GO:0045066)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to laminar fluid shear stress (GO:0034616)|response to progesterone (GO:0032570)|response to radiation (GO:0009314)|response to vitamin D (GO:0033280)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|T cell homeostasis (GO:0043029)|tolerance induction to self antigen (GO:0002513)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|viral life cycle (GO:0019058)	axon (GO:0030424)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	antigen binding (GO:0003823)|cytokine activity (GO:0005125)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)	8					Hyaluronidase(DB00070)	TTGTCATAGATTTCTAGCAGG	0.527																																						uc002oqh.1		NA																	0					0						c.(358-360)ATC>GTC		transforming growth factor, beta 1 precursor	Hyaluronidase(DB00070)						87.0	88.0	88.0					19																	41854358		2203	4300	6503	SO:0001583	missense	7040				active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle	extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix	growth factor activity|type II transforming growth factor beta receptor binding	g.chr19:41854358T>C	X02812	CCDS33031.1	19q13.1	2014-01-30	2007-02-16			ENSG00000105329		"""Endogenous ligands"""	11766	protein-coding gene	gene with protein product	"""Camurati-Engelmann disease"", ""prepro-transforming growth factor beta-1"""	190180		TGFB, DPD1		10631145, 10843814	Standard	NM_000660		Approved	CED, TGFbeta	uc002oqh.2	P01137		ENST00000221930.5:c.358A>G	19.37:g.41854358T>C	ENSP00000221930:p.Ile120Val					CYP2F1_uc010xvw.1_Intron|TMEM91_uc002oqi.2_5'Flank	p.I120V	NM_000660	NP_000651	P01137	TGFB1_HUMAN			2	1225	-			120					A8K792|Q9UCG4	Missense_Mutation	SNP	ENST00000221930.5	37	c.358A>G	CCDS33031.1	.	.	.	.	.	.	.	.	.	.	T	8.015	0.758337	0.15846	.	.	ENSG00000105329	ENST00000221930	T	0.71698	-0.59	4.54	1.35	0.21983	Transforming growth factor-beta, N-terminal (1);	1.060120	0.07489	N	0.905322	T	0.62085	0.2399	L	0.45422	1.42	0.18873	N	0.999985	B	0.23891	0.093	B	0.29353	0.101	T	0.51172	-0.8739	10	0.35671	T	0.21	-41.9823	6.0305	0.19677	0.0:0.3043:0.0:0.6957	.	120	P01137	TGFB1_HUMAN	V	120	ENSP00000221930:I120V	ENSP00000221930:I120V	I	-	1	0	TGFB1	46546198	0.595000	0.26857	0.573000	0.28510	0.041000	0.13682	0.618000	0.24373	0.355000	0.24131	0.374000	0.22700	ATC		0.527	TGFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463500.2			45	68	0	0	0	0	45	68				
CEACAM7	1087	broad.mit.edu	37	19	42187790	42187790	+	Missense_Mutation	SNP	A	A	T	rs376404757		TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:42187790A>T	ENST00000006724.3	-	3	833	c.632T>A	c.(631-633)aTa>aAa	p.I211K	CEACAM7_ENST00000401731.1_Missense_Mutation_p.I211K|CEACAM7_ENST00000602225.1_Intron|CEACAM7_ENST00000338196.4_Intron|CEACAM7_ENST00000599715.1_5'Flank	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	211	Ig-like C2-type.					anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		ATAGGGTCCTATGTCATTCTT	0.542																																						uc002ori.1		NA																	0				ovary(2)	2						c.(631-633)ATA>AAA		carcinoembryonic antigen-related cell adhesion							186.0	177.0	180.0					19																	42187790		2203	4300	6503	SO:0001583	missense	1087					anchored to membrane|integral to membrane|plasma membrane		g.chr19:42187790A>T	X98311	CCDS12583.1	19q13.2	2013-01-29			ENSG00000007306	ENSG00000007306		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1819	protein-coding gene	gene with protein product	"""carcinoembryonic antigen gene family member 2"""			CGM2		7806520, 9135022	Standard	XM_005278379		Approved	CEA	uc002ori.1	Q14002	OTTHUMG00000151063	ENST00000006724.3:c.632T>A	19.37:g.42187790A>T	ENSP00000006724:p.Ile211Lys					CEACAM7_uc010ehx.2_Missense_Mutation_p.I211K|CEACAM7_uc010ehy.1_Intron	p.I211K	NM_006890	NP_008821	Q14002	CEAM7_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)	3	634	-			211			Ig-like C2-type.		A8K848|O15148|O15149|Q0VAC1|Q13983|Q9UPJ2	Missense_Mutation	SNP	ENST00000006724.3	37	c.632T>A	CCDS12583.1	.	.	.	.	.	.	.	.	.	.	A	3.352	-0.132302	0.06753	.	.	ENSG00000007306	ENST00000006724;ENST00000412062;ENST00000401731	T;T	0.11277	2.79;2.79	2.83	-5.66	0.02451	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.02767	0.0083	N	0.01473	-0.845	0.58432	D	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.35051	-0.9804	9	0.42905	T	0.14	.	4.8162	0.13367	0.1232:0.0:0.3786:0.4982	.	211	Q14002	CEAM7_HUMAN	K	211;190;211	ENSP00000006724:I211K;ENSP00000385932:I211K	ENSP00000006724:I211K	I	-	2	0	CEACAM7	46879630	0.000000	0.05858	0.982000	0.44146	0.091000	0.18340	-0.467000	0.06664	-0.562000	0.06086	-2.492000	0.00194	ATA		0.542	CEACAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321145.1	NM_006890		93	131	0	0	0	0	93	131				
CEACAM5	1048	broad.mit.edu	37	19	42224051	42224051	+	Silent	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:42224051C>T	ENST00000221992.6	+	7	1809	c.1695C>T	c.(1693-1695)gaC>gaT	p.D565D	CEACAM5_ENST00000405816.1_Silent_p.D565D|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Silent_p.D564D	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	565	Ig-like 6.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CAAGAAATGACGCAAGAGCCT	0.517																																						uc002ork.2		NA																	0				skin(2)	2						c.(1693-1695)GAC>GAT		carcinoembryonic antigen-related cell adhesion							202.0	183.0	189.0					19																	42224051		2203	4300	6503	SO:0001819	synonymous_variant	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42224051C>T	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.1695C>T	19.37:g.42224051C>T						CEACAM5_uc002orj.1_Silent_p.D564D|CEACAM5_uc002orl.2_Silent_p.D565D	p.D565D	NM_004363	NP_004354	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	7	1816	+			565			Ig-like 6.		H9KVA7	Silent	SNP	ENST00000221992.6	37	c.1695C>T	CCDS12584.1	.	.	.	.	.	.	.	.	.	.	C	1.416	-0.574235	0.03882	.	.	ENSG00000105388	ENST00000398599	.	.	.	2.54	-2.53	0.06326	.	.	.	.	.	T	0.28267	0.0698	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.31586	-0.9938	4	.	.	.	.	6.6999	0.23219	0.0:0.3274:0.0:0.6726	.	.	.	.	C	561	.	.	R	+	1	0	CEACAM5	46915891	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.781000	0.01774	-0.549000	0.06191	0.404000	0.27445	CGC		0.517	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		99	125	0	0	0	0	99	125				
RELB	5971	broad.mit.edu	37	19	45540703	45540703	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:45540703C>A	ENST00000221452.8	+	12	1545	c.1395C>A	c.(1393-1395)gaC>gaA	p.D465E	CLASRP_ENST00000391953.4_5'Flank|RELB_ENST00000540120.1_Missense_Mutation_p.D465E|CLASRP_ENST00000221455.3_5'Flank|CLASRP_ENST00000544944.2_5'Flank|RELB_ENST00000505236.1_Missense_Mutation_p.D462E	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	465					antigen processing and presentation (GO:0019882)|circadian regulation of gene expression (GO:0032922)|myeloid dendritic cell differentiation (GO:0043011)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of gene expression (GO:0010628)|T-helper 1 cell differentiation (GO:0045063)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		CAGACCCTGACTTCTTCTCTG	0.632																																						uc002paj.1		NA																	0				ovary(1)	1						c.(1393-1395)GAC>GAA		reticuloendotheliosis viral oncogene homolog B							107.0	113.0	111.0					19																	45540703		2027	4150	6177	SO:0001583	missense	5971					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:45540703C>A	M83221	CCDS46110.1	19q13.32	2013-07-09	2013-07-09		ENSG00000104856	ENSG00000104856			9956	protein-coding gene	gene with protein product		604758	"""v-rel avian reticuloendotheliosis viral oncogene homolog B (nuclear factor of kappa light polypeptide gene enhancer in B-cells 3)"""			1531086	Standard	NM_006509		Approved	REL-B	uc021uvp.1	Q01201	OTTHUMG00000162116	ENST00000221452.8:c.1395C>A	19.37:g.45540703C>A	ENSP00000221452:p.Asp465Glu					SFRS16_uc002pak.2_5'Flank|SFRS16_uc002pal.2_5'Flank|SFRS16_uc010xxh.1_5'Flank|SFRS16_uc002pam.2_5'Flank|SFRS16_uc002pan.1_5'Flank	p.D465E	NM_006509	NP_006500	Q01201	RELB_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00986)	13	1521	+		Ovarian(192;0.0728)|all_neural(266;0.112)	465					Q6GTX7|Q9UEI7	Missense_Mutation	SNP	ENST00000221452.8	37	c.1395C>A	CCDS46110.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.357555	0.41801	.	.	ENSG00000104856	ENST00000221452;ENST00000540120;ENST00000505236	T;T;T	0.42513	0.97;0.97;0.97	4.6	2.34	0.29019	.	0.000000	0.49916	D	0.000121	T	0.21227	0.0511	N	0.22421	0.69	0.27386	N	0.95528	P	0.37781	0.608	B	0.28638	0.092	T	0.10428	-1.0630	10	0.35671	T	0.21	-4.6102	7.5208	0.27626	0.0:0.7578:0.0:0.2422	.	462	D6R992	.	E	465;465;462	ENSP00000221452:D465E;ENSP00000445542:D465E;ENSP00000423287:D462E	ENSP00000221452:D465E	D	+	3	2	RELB	50232543	0.994000	0.37717	0.999000	0.59377	0.600000	0.36913	0.001000	0.13038	1.111000	0.41721	0.462000	0.41574	GAC		0.632	RELB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000367361.2			41	193	1	0	5.45e-19	7.77e-19	41	193				
CLASRP	11129	broad.mit.edu	37	19	45570821	45570821	+	Missense_Mutation	SNP	G	G	T	rs202001895	byFrequency	TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:45570821G>T	ENST00000221455.3	+	14	1734	c.1636G>T	c.(1636-1638)Gcg>Tcg	p.A546S	CLASRP_ENST00000391953.4_Missense_Mutation_p.A484S|CLASRP_ENST00000544944.2_Missense_Mutation_p.A546S	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	546	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						CAGGCCGGCCGCGTCCCCTGC	0.672																																						uc002pak.2		NA																	0					0						c.(1636-1638)GCG>TCG		splicing factor, arginine/serine-rich 16							7.0	9.0	8.0					19																	45570821		1928	3950	5878	SO:0001583	missense	11129				mRNA processing|RNA splicing	nucleus		g.chr19:45570821G>T	AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"""Clk4 associating SR-related protein"""		"""splicing factor, arginine/serine-rich 16"""	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.1636G>T	19.37:g.45570821G>T	ENSP00000221455:p.Ala546Ser					SFRS16_uc002pal.2_RNA|SFRS16_uc010xxh.1_Missense_Mutation_p.A484S|SFRS16_uc002pam.2_Missense_Mutation_p.A546S	p.A546S	NM_007056	NP_008987	Q8N2M8	CLASR_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	14	1734	+		Ovarian(192;0.0728)|all_neural(266;0.112)	546			Arg-rich.		B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Missense_Mutation	SNP	ENST00000221455.3	37	c.1636G>T	CCDS12652.2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.955046	0.73902	.	.	ENSG00000104859	ENST00000221455;ENST00000391952;ENST00000391953;ENST00000544944	T;T;T;T	0.31769	1.97;1.49;1.97;1.48	4.58	3.52	0.40303	.	0.242364	0.20991	N	0.082025	T	0.11153	0.0272	N	0.03608	-0.345	0.32614	N	0.524199	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.003;0.001	T	0.25047	-1.0143	10	0.05436	T	0.98	-18.2132	9.796	0.40735	0.0:0.0:0.7947:0.2052	.	484;546;546	F8WAG9;F5H0Q6;Q8N2M8	.;.;CLASR_HUMAN	S	546;546;484;546	ENSP00000221455:A546S;ENSP00000375814:A546S;ENSP00000375815:A484S;ENSP00000438702:A546S	ENSP00000221455:A546S	A	+	1	0	CLASRP	50262661	0.997000	0.39634	0.834000	0.33040	0.948000	0.59901	4.198000	0.58419	1.117000	0.41842	0.462000	0.41574	GCG		0.672	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316749.1	NM_007056		14	13	1	0	6.32e-08	7.69e-08	14	13				
CCDC8	83987	broad.mit.edu	37	19	46914604	46914604	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:46914604C>T	ENST00000307522.3	-	1	2237	c.1464G>A	c.(1462-1464)tgG>tgA	p.W488*		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	488					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		GCTTGCAAAACCACGAAAAGC	0.622																																						uc002pep.2		NA																	0				ovary(3)	3						c.(1462-1464)TGG>TGA		coiled-coil domain containing 8							59.0	62.0	61.0					19																	46914604		2203	4300	6503	SO:0001587	stop_gained	83987					plasma membrane		g.chr19:46914604C>T	BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25367	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 20"""	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.1464G>A	19.37:g.46914604C>T	ENSP00000303158:p.Trp488*						p.W488*	NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)	1	2316	-			488					Q8TB26	Nonsense_Mutation	SNP	ENST00000307522.3	37	c.1464G>A	CCDS12685.1	.	.	.	.	.	.	.	.	.	.	C	43	10.277864	0.99373	.	.	ENSG00000169515	ENST00000307522	.	.	.	4.05	4.05	0.47172	.	0.000000	0.34435	N	0.003969	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.9624	12.0116	0.53291	0.0:1.0:0.0:0.0	.	.	.	.	X	488	.	ENSP00000303158:W488X	W	-	3	0	CCDC8	51606444	0.999000	0.42202	0.980000	0.43619	0.497000	0.33675	2.477000	0.45180	2.546000	0.85860	0.455000	0.32223	TGG		0.622	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1	NM_032040		37	57	0	0	0	0	37	57				
GYS1	2997	broad.mit.edu	37	19	49488819	49488819	+	Missense_Mutation	SNP	C	C	A	rs192597341		TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:49488819C>A	ENST00000323798.3	-	5	918	c.722G>T	c.(721-723)cGa>cTa	p.R241L	GYS1_ENST00000541188.1_Missense_Mutation_p.R161L|GYS1_ENST00000457974.1_5'Flank|GYS1_ENST00000263276.6_Missense_Mutation_p.R177L|GYS1_ENST00000544287.1_Intron|GYS1_ENST00000540532.1_Missense_Mutation_p.R161L	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	241					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		CATGCAGTATCGGTGGTAGAT	0.577																																						uc002plp.2		NA																	0				ovary(2)	2						c.(721-723)CGA>CTA		glycogen synthase 1 (muscle) isoform 1							130.0	97.0	108.0					19																	49488819		2203	4300	6503	SO:0001583	missense	2997				glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding	g.chr19:49488819C>A		CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.722G>T	19.37:g.49488819C>A	ENSP00000317904:p.Arg241Leu					GYS1_uc010xzy.1_Intron|GYS1_uc010emm.2_Missense_Mutation_p.R177L|GYS1_uc010xzz.1_Missense_Mutation_p.R161L|GYS1_uc010yaa.1_RNA	p.R241L	NM_002103	NP_002094	P13807	GYS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)	5	963	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)	241					Q9BTT9	Missense_Mutation	SNP	ENST00000323798.3	37	c.722G>T	CCDS12747.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.893986	0.91889	.	.	ENSG00000104812	ENST00000323798;ENST00000263276;ENST00000541188;ENST00000540532	T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	D	0.83686	0.5308	M	0.87617	2.895	0.80722	D	1	D;D;D	0.89917	1.0;0.994;1.0	D;D;D	0.91635	0.999;0.926;0.999	D	0.86960	0.2091	10	0.87932	D	0	-23.2171	15.6309	0.76908	0.0:1.0:0.0:0.0	.	161;177;241	B7Z806;Q9BTT9;P13807	.;.;GYS1_HUMAN	L	241;177;161;161	ENSP00000317904:R241L;ENSP00000263276:R177L;ENSP00000437922:R161L;ENSP00000445197:R161L	ENSP00000263276:R177L	R	-	2	0	GYS1	54180631	1.000000	0.71417	0.998000	0.56505	0.905000	0.53344	7.548000	0.82154	2.360000	0.80028	0.455000	0.32223	CGA		0.577	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319791.1	NM_002103		26	56	1	0	4.88e-14	6.6e-14	26	56				
PRR12	57479	broad.mit.edu	37	19	50123642	50123642	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:50123642G>T	ENST00000418929.2	+	10	5543	c.5531G>T	c.(5530-5532)aGg>aTg	p.R1844M		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	1023							DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CTCAAAACCAGGGCGATGCGG	0.582																																						uc002poo.3		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(5530-5532)AGG>ATG		proline rich 12							46.0	50.0	48.0					19																	50123642		2121	4237	6358	SO:0001583	missense	57479						DNA binding	g.chr19:50123642G>T	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.5531G>T	19.37:g.50123642G>T	ENSP00000394510:p.Arg1844Met						p.R1844M	NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	10	5531	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	1023					E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	37	c.5531G>T	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.072597	0.55646	.	.	ENSG00000126464	ENST00000418929;ENST00000246798;ENST00000314734	T	0.47177	0.85	4.44	4.44	0.53790	.	0.000000	0.48767	D	0.000168	T	0.66973	0.2844	M	0.65975	2.015	0.58432	D	0.999996	D	0.89917	1.0	D	0.85130	0.997	T	0.71593	-0.4546	10	0.87932	D	0	-26.1958	16.0475	0.80731	0.0:0.0:1.0:0.0	.	1844	Q9ULL5-3	.	M	1844;1024;1024	ENSP00000394510:R1844M	ENSP00000246798:R1024M	R	+	2	0	PRR12	54815454	1.000000	0.71417	0.993000	0.49108	0.747000	0.42532	8.594000	0.90836	2.301000	0.77427	0.460000	0.39030	AGG		0.582	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		3	16	1	0	0.004672	0.00493652	3	16				
CPT1C	126129	broad.mit.edu	37	19	50204810	50204810	+	Silent	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:50204810C>A	ENST00000392518.4	+	7	984	c.612C>A	c.(610-612)gtC>gtA	p.V204V	CPT1C_ENST00000405931.2_Silent_p.V204V|CPT1C_ENST00000598293.1_Silent_p.V204V|CPT1C_ENST00000354199.5_Silent_p.V204V|CPT1C_ENST00000323446.5_Silent_p.V204V	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	204					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GGACCGCGGTCCTGGCGCAGG	0.672																																						uc002ppj.2		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(610-612)GTC>GTA		carnitine palmitoyltransferase 1C isoform 2							40.0	36.0	37.0					19																	50204810		2203	4300	6503	SO:0001819	synonymous_variant	126129				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr19:50204810C>A	AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.612C>A	19.37:g.50204810C>A						CPT1C_uc002ppl.3_Silent_p.V170V|CPT1C_uc002ppi.2_Silent_p.V121V|CPT1C_uc002ppk.2_Silent_p.V204V|CPT1C_uc010eng.2_Silent_p.V204V|CPT1C_uc010enh.2_Silent_p.V204V|CPT1C_uc010ybc.1_Silent_p.V42V	p.V204V	NM_152359	NP_689572	Q8TCG5	CPT1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)	6	817	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	204			Cytoplasmic (Potential).		A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Silent	SNP	ENST00000392518.4	37	c.612C>A	CCDS12779.1																																																																																				0.672	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359		27	31	1	0	2.13e-12	2.82e-12	27	31				
AP2A1	160	broad.mit.edu	37	19	50305113	50305113	+	Silent	SNP	C	C	T	rs374141628		TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:50305113C>T	ENST00000359032.5	+	14	1920	c.1920C>T	c.(1918-1920)atC>atT	p.I640I	AP2A1_ENST00000354293.5_Silent_p.I640I	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	640					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		GCAACGACATCAACGGGGGCA	0.716																																						uc002ppn.2		NA																	0				ovary(2)	2						c.(1918-1920)ATC>ATT		adaptor-related protein complex 2, alpha 1							7.0	10.0	9.0					19																	50305113		2004	4094	6098	SO:0001819	synonymous_variant	160				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity	g.chr19:50305113C>T	AA993745	CCDS46148.1, CCDS46149.1	19q13.3	2008-05-23				ENSG00000196961			561	protein-coding gene	gene with protein product		601026		CLAPA1, ADTAA		2564002	Standard	NM_014203		Approved		uc002ppn.3	O95782		ENST00000359032.5:c.1920C>T	19.37:g.50305113C>T						AP2A1_uc010enj.1_RNA|AP2A1_uc002ppo.2_Silent_p.I640I|AP2A1_uc002ppp.1_Missense_Mutation_p.S11L	p.I640I	NM_014203	NP_055018	O95782	AP2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)	14	2131	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	640					Q96CI7|Q96PP6|Q96PP7|Q9H070	Silent	SNP	ENST00000359032.5	37	c.1920C>T	CCDS46148.1																																																																																				0.716	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465809.1			6	4	0	0	0	0	6	4				
NUP62	23636	broad.mit.edu	37	19	50412135	50412135	+	Silent	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:50412135C>A	ENST00000596217.1	-	2	2817	c.930G>T	c.(928-930)gtG>gtT	p.V310V	NUP62_ENST00000352066.3_Silent_p.V310V|NUP62_ENST00000413454.1_Silent_p.V310V|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000600583.1_5'Flank|NUP62_ENST00000597029.1_Silent_p.V310V|NUP62_ENST00000597723.1_Intron|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000422090.2_Silent_p.V310V			P37198	NUP62_HUMAN	nucleoporin 62kDa	310	Ala-rich.				carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|hormone-mediated signaling pathway (GO:0009755)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of programmed cell death (GO:0043069)|negative regulation of Ras protein signal transduction (GO:0046580)|nucleocytoplasmic transport (GO:0006913)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of Ras protein signal transduction (GO:0046578)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleocytoplasmic shuttling complex (GO:0031074)|pore complex (GO:0046930)|ribonucleoprotein complex (GO:0030529)	chromatin binding (GO:0003682)|receptor signaling complex scaffold activity (GO:0030159)|SH2 domain binding (GO:0042169)|structural constituent of nuclear pore (GO:0017056)|thyroid hormone receptor binding (GO:0046966)|ubiquitin binding (GO:0043130)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GTGGAGCGGTCACGGCAGCTG	0.652																																						uc002pqx.2		NA																	0					0						c.(928-930)GTG>GTT		nucleoporin 62kDa							27.0	33.0	31.0					19																	50412135		2185	4275	6460	SO:0001819	synonymous_variant	23636				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding	g.chr19:50412135C>A	X58521	CCDS12788.1	19q13.33	2013-09-20	2002-08-29		ENSG00000213024	ENSG00000213024			8066	protein-coding gene	gene with protein product	"""nuclear pore glycoprotein p62"""	605815	"""nucleoporin 62kD"""			1915414	Standard	NM_016553		Approved	p62, DKFZp547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869	uc002pqx.3	P37198	OTTHUMG00000183077	ENST00000596217.1:c.930G>T	19.37:g.50412135C>A						IL4I1_uc002pqv.1_Intron|IL4I1_uc010eno.1_Intron|IL4I1_uc002pqw.1_Intron|IL4I1_uc002pqu.1_Intron|NUP62_uc002pqy.2_Silent_p.V310V|NUP62_uc002pqz.2_Silent_p.V310V|NUP62_uc002pra.2_Silent_p.V310V|NUP62_uc002prb.2_Silent_p.V310V|NUP62_uc002prc.2_Intron	p.V310V	NM_153719	NP_714941	P37198	NUP62_HUMAN		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	2	1034	-		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)	310			Ala-rich.		B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	Silent	SNP	ENST00000596217.1	37	c.930G>T	CCDS12788.1																																																																																				0.652	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464991.1	NM_153719		25	54	1	0	4.23e-11	5.49e-11	25	54				
SIGLEC9	27180	broad.mit.edu	37	19	51633327	51633327	+	Silent	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:51633327C>A	ENST00000250360.3	+	7	1450	c.1383C>A	c.(1381-1383)atC>atA	p.I461I	SIGLEC9_ENST00000440804.3_Intron	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	461					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		AGATCAAGATCCACAGATGAG	0.542																																						uc002pvu.2		NA																	0				skin(1)	1						c.(1381-1383)ATC>ATA		sialic acid binding Ig-like lectin 9 precursor							62.0	59.0	60.0					19																	51633327		2203	4300	6503	SO:0001819	synonymous_variant	27180				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	g.chr19:51633327C>A	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.1383C>A	19.37:g.51633327C>A						SIGLEC9_uc010yct.1_Intron	p.I461I	NM_014441	NP_055256	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)	7	1450	+		all_neural(266;0.0529)	461			Cytoplasmic (Potential).		Q6GTU4|Q9BYI9	Silent	SNP	ENST00000250360.3	37	c.1383C>A	CCDS12825.1																																																																																				0.542	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		22	50	1	0	1.28e-07	1.54e-07	22	50				
ZNF649	65251	broad.mit.edu	37	19	52394076	52394076	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:52394076G>A	ENST00000354957.3	-	5	1597	c.1313C>T	c.(1312-1314)gCt>gTt	p.A438V	ZNF577_ENST00000412216.1_5'Flank|ZNF577_ENST00000451628.2_5'Flank|ZNF577_ENST00000420592.1_5'Flank|ZNF577_ENST00000301399.5_5'Flank|ZNF649_ENST00000600738.1_Missense_Mutation_p.A410V|CTC-429C10.2_ENST00000600329.1_RNA|ZNF577_ENST00000485702.1_5'Flank	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	438					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		ATAGAAGTAAGCTTTCTCACA	0.448																																						uc002pxy.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1312-1314)GCT>GTT		zinc finger protein 649							168.0	164.0	165.0					19																	52394076		2203	4300	6503	SO:0001583	missense	65251				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52394076G>A	BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"""Zinc fingers, C2H2-type"", ""-"""	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.1313C>T	19.37:g.52394076G>A	ENSP00000347043:p.Ala438Val					ZNF577_uc010ydd.1_5'Flank|ZNF577_uc002pxx.3_5'Flank|ZNF577_uc002pxv.2_5'Flank|ZNF577_uc002pxw.2_5'Flank|ZNF577_uc010yde.1_5'Flank|ZNF577_uc010ydf.1_Intron	p.A438V	NM_023074	NP_075562	Q9BS31	ZN649_HUMAN		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)	5	1581	-		all_neural(266;0.0602)	438			C2H2-type 10.		A8MYJ5|B2RDC4|Q9H9N2	Missense_Mutation	SNP	ENST00000354957.3	37	c.1313C>T	CCDS12843.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342043	0.24339	.	.	ENSG00000198093	ENST00000354957	T	0.13778	2.56	2.63	2.63	0.31362	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15046	0.0363	L	0.33137	0.985	0.09310	N	1	P	0.51449	0.945	P	0.49451	0.611	T	0.09574	-1.0668	9	0.56958	D	0.05	.	8.3097	0.32064	0.0:0.4332:0.5668:0.0	.	438	Q9BS31	ZN649_HUMAN	V	438	ENSP00000347043:A438V	ENSP00000347043:A438V	A	-	2	0	ZNF649	57085888	0.004000	0.15560	0.015000	0.15790	0.140000	0.21249	0.923000	0.28757	1.309000	0.44985	0.404000	0.27445	GCT		0.448	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461097.1	NM_023074		99	195	0	0	0	0	99	195				
ZNF615	284370	broad.mit.edu	37	19	52496176	52496176	+	Missense_Mutation	SNP	G	G	A	rs181711461	byFrequency	TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:52496176G>A	ENST00000602063.1	-	6	2502	c.2153C>T	c.(2152-2154)gCg>gTg	p.A718V	ZNF615_ENST00000598071.1_Missense_Mutation_p.A729V|ZNF615_ENST00000391795.3_Missense_Mutation_p.A723V|ZNF615_ENST00000594083.1_Missense_Mutation_p.A729V|ZNF615_ENST00000376716.5_Missense_Mutation_p.A718V			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	718					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)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		AGACAAGTGCGCAAAAGCTTT	0.438													G|||	6	0.00119808	0.0	0.0029	5008	,	,		19283	0.004		0.0	False		,,,				2504	0.0					uc002pye.1		NA																	0				ovary(4)|skin(1)	5						c.(2152-2154)GCG>GTG		zinc finger protein 615							177.0	180.0	179.0					19																	52496176		2203	4300	6503	SO:0001583	missense	284370				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52496176G>A	AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.2153C>T	19.37:g.52496176G>A	ENSP00000473089:p.Ala718Val					ZNF615_uc002pyf.1_Missense_Mutation_p.A729V|ZNF615_uc002pyg.1_Missense_Mutation_p.A610V|ZNF615_uc002pyh.1_Missense_Mutation_p.A729V|ZNF615_uc010epi.1_Missense_Mutation_p.A725V|ZNF615_uc010ydg.1_Missense_Mutation_p.A723V	p.A718V	NM_198480	NP_940882	Q8N8J6	ZN615_HUMAN		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	2445	-		all_neural(266;0.117)	718			C2H2-type 19.		B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	ENST00000602063.1	37	c.2153C>T	CCDS12846.1	3	0.0013736263736263737	0	0.0	2	0.0055248618784530384	1	0.0017482517482517483	0	0.0	G	10.96	1.499612	0.26861	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.04156	3.69;3.69	3.39	0.066	0.14359	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02047	0.0064	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.21753	0.06;0.048;0.048;0.06	B;B;B;B	0.12156	0.007;0.004;0.004;0.007	T	0.48269	-0.9050	9	0.10111	T	0.7	.	5.1987	0.15252	0.5192:0.0:0.4808:0.0	.	723;725;729;718	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	V	718;728;723;672	ENSP00000365906:A718V;ENSP00000375672:A723V	ENSP00000347019:A728V	A	-	2	0	ZNF615	57187988	0.000000	0.05858	0.177000	0.23020	0.904000	0.53231	-0.449000	0.06812	0.239000	0.21243	0.655000	0.94253	GCG		0.438	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		76	103	0	0	0	0	76	103				
ZNF528	84436	broad.mit.edu	37	19	52919907	52919907	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:52919907G>T	ENST00000360465.3	+	7	2228	c.1802G>T	c.(1801-1803)gGa>gTa	p.G601V	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	601					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)	p.G601A(1)		breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		ATTCACATTGGAGAGAAACCT	0.418																																						uc002pzh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1801-1803)GGA>GTA		zinc finger protein 528							88.0	87.0	87.0					19																	52919907		2203	4300	6503	SO:0001583	missense	84436				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52919907G>T	AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"""Zinc fingers, C2H2-type"", ""-"""	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.1802G>T	19.37:g.52919907G>T	ENSP00000353652:p.Gly601Val					ZNF528_uc002pzi.2_Missense_Mutation_p.G368V	p.G601V	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN		GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)	7	2228	+			601					B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	ENST00000360465.3	37	c.1802G>T	CCDS33091.1	.	.	.	.	.	.	.	.	.	.	G	7.771	0.707535	0.15239	.	.	ENSG00000167555	ENST00000360465	T	0.23552	1.9	1.85	0.671	0.17929	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.50565	0.1623	M	0.87456	2.885	0.34218	D	0.675094	D	0.89917	1.0	D	0.97110	1.0	T	0.61103	-0.7130	9	0.87932	D	0	.	8.1096	0.30907	0.0:0.0:0.7565:0.2435	.	601	Q3MIS6	ZN528_HUMAN	V	601	ENSP00000353652:G601V	ENSP00000353652:G601V	G	+	2	0	ZNF528	57611719	0.709000	0.27886	0.036000	0.18154	0.071000	0.16799	1.649000	0.37281	0.072000	0.16694	0.491000	0.48974	GGA		0.418	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423		34	62	1	0	9.81e-26	1.47e-25	34	62				
ZNF415	55786	broad.mit.edu	37	19	53612438	53612438	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:53612438A>G	ENST00000500065.4	-	4	1193	c.860T>C	c.(859-861)cTt>cCt	p.L287P	ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000455735.2_Missense_Mutation_p.L335P|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000601493.1_Missense_Mutation_p.L57P|ZNF415_ENST00000243643.4_Missense_Mutation_p.L287P|ZNF415_ENST00000440291.1_Missense_Mutation_p.L274P|ZNF415_ENST00000421033.1_Missense_Mutation_p.L299P|ZNF415_ENST00000448501.1_Missense_Mutation_p.L335P	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	335					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L287H(1)		breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		ATGTAGTGCAAGGCATGAGTT	0.413																																						uc002qax.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1003-1005)CTT>CCT		RecName: Full=Zinc finger protein 415;							105.0	91.0	96.0					19																	53612438		2203	4300	6503	SO:0001583	missense	55786				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding	g.chr19:53612438A>G	AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"""Zinc fingers, C2H2-type"", ""-"""	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.860T>C	19.37:g.53612438A>G	ENSP00000439435:p.Leu287Pro					ZNF415_uc002qat.2_Missense_Mutation_p.L299P|ZNF415_uc002qaw.2_Missense_Mutation_p.L287P|ZNF415_uc010yds.1_Missense_Mutation_p.L287P|ZNF415_uc010ydt.1_Missense_Mutation_p.L287P|ZNF415_uc002qau.2_Missense_Mutation_p.L274P|ZNF415_uc002qav.2_Missense_Mutation_p.L299P|ZNF415_uc002qba.2_Missense_Mutation_p.L57P|ZNF415_uc002qay.2_Missense_Mutation_p.L274P|ZNF415_uc002qaz.2_Missense_Mutation_p.L335P	p.L335P	NR_028343		Q09FC8	ZN415_HUMAN		GBM - Glioblastoma multiforme(134;0.0191)	7	1353	-			335			C2H2-type 3.		F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Missense_Mutation	SNP	ENST00000500065.4	37	c.1004T>C	CCDS54313.1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.180643	0.38511	.	.	ENSG00000170954	ENST00000243643;ENST00000500065;ENST00000448501;ENST00000421033;ENST00000455735;ENST00000440291	T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;2.52	2.78	2.78	0.32641	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.62756	0.2454	M	0.93328	3.405	0.19775	N	0.999956	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;1.0;1.0	D;D;D;D;D;D	0.91635	0.964;0.999;0.979;0.994;0.964;0.999	T	0.53725	-0.8398	9	0.87932	D	0	.	10.1307	0.42676	1.0:0.0:0.0:0.0	.	287;335;335;287;274;299	F5H287;B3KTG1;Q09FC8;Q09FC8-5;Q09FC8-4;Q09FC8-2	.;.;ZN415_HUMAN;.;.;.	P	287;287;335;299;335;274	ENSP00000243643:L287P;ENSP00000439435:L287P;ENSP00000396492:L335P;ENSP00000395055:L299P;ENSP00000388787:L335P;ENSP00000414601:L274P	ENSP00000243643:L287P	L	-	2	0	ZNF415	58304250	0.109000	0.22037	0.004000	0.12327	0.054000	0.15201	3.357000	0.52277	1.286000	0.44565	0.402000	0.26972	CTT		0.413	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464043.1	NM_018355		11	75	0	0	0	0	11	75				
NLRP12	91662	broad.mit.edu	37	19	54297343	54297343	+	Missense_Mutation	SNP	G	G	T	rs146786265	byFrequency	TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:54297343G>T	ENST00000324134.6	-	10	3314	c.3146C>A	c.(3145-3147)gCg>gAg	p.A1049E	NLRP12_ENST00000391773.1_Missense_Mutation_p.A1050E|NLRP12_ENST00000391775.3_Missense_Mutation_p.A992E|NLRP12_ENST00000354278.3_Missense_Mutation_p.A880E|NLRP12_ENST00000535162.1_Missense_Mutation_p.A992E|NLRP12_ENST00000345770.5_Missense_Mutation_p.A994E|NLRP12_ENST00000391772.1_Missense_Mutation_p.A880E|NLRP12_ENST00000351894.4_Missense_Mutation_p.A937E	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	1049					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TACTCGAAGCGCTGCCAACCT	0.463																																						uc002qch.3		NA																	0				ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7						c.(3145-3147)GCG>GAG		NLR family, pyrin domain containing 12 isoform							175.0	139.0	151.0					19																	54297343		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54297343G>T	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.3146C>A	19.37:g.54297343G>T	ENSP00000319377:p.Ala1049Glu					NLRP12_uc010eqw.2_Missense_Mutation_p.A275E|NLRP12_uc002qci.3_Missense_Mutation_p.A992E|NLRP12_uc002qcj.3_Missense_Mutation_p.A1050E|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_3'UTR	p.A1049E	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	10	3366	-	Ovarian(34;0.19)		1049			LRR 8.		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.3146C>A	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.123648	0.37436	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000358661;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	T;T;T;T;T;T;T	0.74526	0.77;-0.83;-0.82;-0.82;-0.85;0.77;-0.83	4.44	-0.297	0.12820	.	.	.	.	.	T	0.76758	0.4032	L	0.50333	1.59	0.09310	N	1	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.87578	0.941;0.998;0.997;0.986	T	0.62671	-0.6805	9	0.29301	T	0.29	.	3.7683	0.08632	0.2863:0.0:0.545:0.1687	.	275;1049;992;1049	P59046-5;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	E	1049;992;937;880;275;992;1050;993;880	ENSP00000319377:A1049E;ENSP00000438030:A992E;ENSP00000340473:A937E;ENSP00000346231:A880E;ENSP00000375655:A992E;ENSP00000375653:A1050E;ENSP00000375652:A880E	ENSP00000319377:A1049E	A	-	2	0	NLRP12	58989155	0.001000	0.12720	0.000000	0.03702	0.262000	0.26303	0.280000	0.18790	-0.128000	0.11641	-0.355000	0.07637	GCG		0.463	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		21	54	1	0	5.35e-11	6.91e-11	21	54				
CACNG7	59284	broad.mit.edu	37	19	54418659	54418659	+	Silent	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:54418659C>A	ENST00000391767.1	+	4	536	c.324C>A	c.(322-324)ctC>ctA	p.L108L	CACNG7_ENST00000222212.2_Silent_p.L108L|CACNG7_ENST00000468076.1_3'UTR|CACNG7_ENST00000391766.1_Silent_p.L108L			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	108					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		TGGTCAGCCTCTTCCTCGTGT	0.607																																						uc002qcr.1		NA																	0				ovary(1)	1						c.(322-324)CTC>CTA		voltage-dependent calcium channel gamma-7							102.0	85.0	91.0					19																	54418659		2203	4300	6503	SO:0001819	synonymous_variant	59284				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54418659C>A	AF288387	CCDS12868.1	19q13.4	2008-05-02			ENSG00000105605	ENSG00000105605		"""Calcium channel subunits"""	13626	protein-coding gene	gene with protein product		606899				11170751	Standard	NM_031896		Approved		uc002qcr.2	P62955	OTTHUMG00000064852	ENST00000391767.1:c.324C>A	19.37:g.54418659C>A						CACNG7_uc010era.1_Silent_p.L108L	p.L108L	NM_031896	NP_114102	P62955	CCG7_HUMAN		GBM - Glioblastoma multiforme(134;0.0711)	3	339	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		108			Helical; (Potential).		Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Silent	SNP	ENST00000391767.1	37	c.324C>A	CCDS12868.1																																																																																				0.607	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139240.2			22	32	1	0	1.85e-09	2.33e-09	22	32				
TMC4	147798	broad.mit.edu	37	19	54666867	54666867	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:54666867G>C	ENST00000376591.4	-	9	1452	c.1321C>G	c.(1321-1323)Ctg>Gtg	p.L441V	TMC4_ENST00000301187.4_Missense_Mutation_p.L435V|TMC4_ENST00000416963.1_Missense_Mutation_p.L23V|TMC4_ENST00000476013.2_5'Flank	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	441					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					AGGACCACCAGGGAGGCGAGG	0.577																																						uc010erf.2		NA																	0				pancreas(1)	1						c.(1321-1323)CTG>GTG		transmembrane channel-like 4 isoform 1							78.0	71.0	74.0					19																	54666867		2203	4300	6503	SO:0001583	missense	147798					integral to membrane		g.chr19:54666867G>C	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.1321C>G	19.37:g.54666867G>C	ENSP00000365776:p.Leu441Val					TMC4_uc002qdn.2_Missense_Mutation_p.L155V|TMC4_uc002qdo.2_Missense_Mutation_p.L435V	p.L441V	NM_001145303	NP_001138775	Q7Z404	TMC4_HUMAN			9	1453	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		441			Helical; (Potential).		Q7Z5M3|Q8N5E4|Q8TBS7	Missense_Mutation	SNP	ENST00000376591.4	37	c.1321C>G	CCDS46174.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.165986	0.38217	.	.	ENSG00000167608	ENST00000301187;ENST00000416963;ENST00000376591	T;T;T	0.53640	0.61;0.61;0.61	5.17	4.13	0.48395	.	0.000000	0.64402	D	0.000001	T	0.65123	0.2661	M	0.70275	2.135	0.48632	D	0.999689	D;P;P	0.89917	1.0;0.931;0.702	D;P;B	0.91635	0.999;0.873;0.421	T	0.64249	-0.6452	10	0.33141	T	0.24	-17.2771	13.05	0.58950	0.0801:0.0:0.9198:0.0	.	441;435;23	Q7Z404;Q7Z404-1;Q7Z404-3	TMC4_HUMAN;.;.	V	435;23;441	ENSP00000301187:L435V;ENSP00000405023:L23V;ENSP00000365776:L441V	ENSP00000301187:L435V	L	-	1	2	TMC4	59358679	0.999000	0.42202	0.709000	0.30452	0.305000	0.27757	1.999000	0.40806	1.337000	0.45525	-0.265000	0.10407	CTG		0.577	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			15	30	0	0	0	0	15	30				
LAIR2	3904	broad.mit.edu	37	19	55019221	55019222	+	Nonsense_Mutation	DNP	GG	GG	TT			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:55019221_55019222GG>TT	ENST00000301202.2	+	3	308_309	c.186_187GG>TT	c.(184-189)agGGag>agTTag	p.62_63RE>S*	LAIR2_ENST00000351841.2_Nonsense_Mutation_p.62_63RE>S*	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	62	Ig-like C2-type.					extracellular region (GO:0005576)				central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		GCCTGGAGAGGGAGGATAGAGC	0.53																																						uc002qgc.2		NA																	0				ovary(1)	1						c.(184-189)AGGGAG>AGTTAG		leukocyte-associated immunoglobulin-like																																				SO:0001587	stop_gained	3904					extracellular region	receptor activity	g.chr19:55019221_55019222GG>TT	AF013250	CCDS12897.1, CCDS12898.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167618	ENSG00000167618		"""Leukocyte-associated Ig like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6478	protein-coding gene	gene with protein product		602993	"""leukocyte-associated Ig-like receptor 2"""			9285412	Standard	XM_005277264		Approved	CD306	uc002qgc.3	Q6ISS4	OTTHUMG00000065697	Exception_encountered	19.37:g.55019221_55019222delinsTT	ENSP00000301202:p.R62_E63delinsS*					LAIR2_uc002qga.1_RNA|LAIR2_uc002qgb.1_RNA|LAIR2_uc002qgd.2_Nonsense_Mutation_p.62_63RE>S*|LAIR2_uc010erl.2_Nonsense_Mutation_p.62_63RE>S*	p.62_63RE>S*	NM_002288	NP_002279	Q6ISS4	LAIR2_HUMAN		GBM - Glioblastoma multiforme(193;0.0967)	3	308_309	+	Ovarian(34;0.19)		62_63			Ig-like C2-type.		Q6PEZ4	Nonsense_Mutation	DNP	ENST00000301202.2	37	c.186_187GG>TT	CCDS12897.1																																																																																				0.530	LAIR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140801.1			50	76	0	0	0	0	50	76				
LILRA1	11024	broad.mit.edu	37	19	55106360	55106360	+	Missense_Mutation	SNP	G	G	T	rs201715627	byFrequency	TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:55106360G>T	ENST00000251372.3	+	4	483	c.301G>T	c.(301-303)Ggt>Tgt	p.G101C	LILRA1_ENST00000453777.1_Missense_Mutation_p.G101C|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	101	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CTGTTTCTACGGTAGCCACAC	0.607																																						uc002qgh.1		NA																	0				skin(2)|ovary(1)	3						c.(301-303)GGT>TGT		leukocyte immunoglobulin-like receptor,							85.0	83.0	83.0					19																	55106360		2203	4300	6503	SO:0001583	missense	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55106360G>T	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.301G>T	19.37:g.55106360G>T	ENSP00000251372:p.Gly101Cys					LILRA2_uc010yfg.1_Intron|LILRA1_uc010yfh.1_Missense_Mutation_p.G101C	p.G101C	NM_006863	NP_006854	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	4	483	+			101			Ig-like C2-type 1.|Extracellular (Potential).		O75018|Q3MJA6	Missense_Mutation	SNP	ENST00000251372.3	37	c.301G>T	CCDS12901.1	.	.	.	.	.	.	.	.	.	.	G	8.095	0.775311	0.16051	.	.	ENSG00000104974	ENST00000251372;ENST00000453777	T;T	0.00753	5.74;5.74	1.58	-3.16	0.05217	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	8.473480	0.00166	N	0.000000	T	0.02571	0.0078	L	0.58510	1.815	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.995	T	0.38714	-0.9648	10	0.51188	T	0.08	.	2.1081	0.03696	0.3495:0.0:0.1803:0.4702	.	101;101	O75019-2;O75019	.;LIRA1_HUMAN	C	101	ENSP00000251372:G101C;ENSP00000413715:G101C	ENSP00000251372:G101C	G	+	1	0	LILRA1	59798172	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.095000	0.00044	-0.979000	0.03529	-1.210000	0.01631	GGT		0.607	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		42	63	1	0	4.02e-15	5.51e-15	42	63				
LILRB4	11006	broad.mit.edu	37	19	55177323	55177324	+	Missense_Mutation	DNP	TC	TC	AA			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:55177323_55177324TC>AA	ENST00000391736.1	+	9	1130_1131	c.815_816TC>AA	c.(814-816)cTC>cAA	p.L272Q	LILRB4_ENST00000391734.3_Missense_Mutation_p.L272Q|LILRB4_ENST00000270452.2_Missense_Mutation_p.L272Q|LILRB4_ENST00000430952.2_Missense_Mutation_p.L272Q|LILRB4_ENST00000391733.3_Missense_Mutation_p.L272Q	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	272					immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		Atcctgcttctctccctcctcc	0.559																																						uc002qgp.2		NA																	0				ovary(3)	3						c.(814-816)CTC>CAA		leukocyte immunoglobulin-like receptor,																																				SO:0001583	missense	11006					integral to membrane|plasma membrane	antigen binding|receptor activity	g.chr19:55177323_55177324TC>AA	U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		Exception_encountered	19.37:g.55177323_55177324delinsAA	ENSP00000375616:p.Leu272Gln					LILRB4_uc002qgq.2_Missense_Mutation_p.L272Q|LILRB4_uc002qgr.2_Missense_Mutation_p.L313Q|LILRB4_uc010ert.2_Missense_Mutation_p.L313Q|LILRB4_uc010eru.2_Missense_Mutation_p.L301Q	p.L272Q	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN		GBM - Glioblastoma multiforme(193;0.035)	7	1177_1178	+			272			Helical; (Potential).		A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Missense_Mutation	DNP	ENST00000391736.1	37	c.815_816TC>AA	CCDS12902.1																																																																																				0.559	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3			8	20	0	0	0	0	8	20				
NLRP8	126205	broad.mit.edu	37	19	56487625	56487625	+	Silent	SNP	G	G	T	rs368840561		TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:56487625G>T	ENST00000291971.3	+	8	2903	c.2832G>T	c.(2830-2832)ctG>ctT	p.L944L	NLRP8_ENST00000590542.1_Silent_p.L925L	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	944					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TGATCCTGCTGTGTGAGGCCC	0.463																																						uc002qmh.2		NA																	0				ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13						c.(2830-2832)CTG>CTT		NLR family, pyrin domain containing 8							139.0	137.0	138.0					19																	56487625		2203	4300	6503	SO:0001819	synonymous_variant	126205					cytoplasm	ATP binding	g.chr19:56487625G>T	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.2832G>T	19.37:g.56487625G>T						NLRP8_uc010etg.2_Silent_p.L925L	p.L944L	NM_176811	NP_789781	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	8	2903	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	944			LRR 5.		Q7RTR4	Silent	SNP	ENST00000291971.3	37	c.2832G>T	CCDS12937.1																																																																																				0.463	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		35	50	1	0	1.07e-22	1.58e-22	35	50				
PEG3	5178	broad.mit.edu	37	19	57325220	57325220	+	Missense_Mutation	SNP	C	C	G	rs140891968		TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:57325220C>G	ENST00000326441.9	-	10	4953	c.4590G>C	c.(4588-4590)atG>atC	p.M1530I	ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.M1530I|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.M1404I|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.M1406I	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1530					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CAAATATGATCATGCTGGCAT	0.478																																						uc002qnu.2		NA																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(4588-4590)ATG>ATC		paternally expressed 3 isoform 1							165.0	146.0	152.0					19																	57325220		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57325220C>G	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.4590G>C	19.37:g.57325220C>G	ENSP00000326581:p.Met1530Ile					ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.M1501I|PEG3_uc002qnv.2_Missense_Mutation_p.M1530I|PEG3_uc002qnw.2_Missense_Mutation_p.M1406I|PEG3_uc002qnx.2_Missense_Mutation_p.M1404I|PEG3_uc010etr.2_Missense_Mutation_p.M1530I	p.M1530I	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	4941	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	1530					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.4590G>C	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.371256	0.24771	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02369	4.32;4.32	3.95	0.202	0.15190	.	0.639098	0.13148	N	0.410103	T	0.01489	0.0048	N	0.12182	0.205	.	.	.	B;B;B	0.13594	0.008;0.0;0.0	B;B;B	0.11329	0.006;0.001;0.0	T	0.45731	-0.9241	9	0.13853	T	0.58	-4.9995	3.995	0.09554	0.0:0.5643:0.1924:0.2433	.	1406;1530;1465	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	I	1530	ENSP00000326581:M1530I;ENSP00000403051:M1530I	ENSP00000326581:M1530I	M	-	3	0	ZIM2	62017032	0.182000	0.23173	0.001000	0.08648	0.983000	0.72400	0.363000	0.20301	0.147000	0.19030	0.591000	0.81541	ATG		0.478	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			44	69	0	0	0	0	44	69				
ZNF17	7565	broad.mit.edu	37	19	57931542	57931542	+	Silent	SNP	A	A	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:57931542A>C	ENST00000601808.1	+	3	895	c.682A>C	c.(682-684)Agg>Cgg	p.R228R	ZNF17_ENST00000307658.7_Silent_p.R230R|AC004076.7_ENST00000597410.1_Intron	NM_006959.2	NP_008890.2	P17021	ZNF17_HUMAN	zinc finger protein 17	228					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		CAAATTGTTTAGGTACAACTC	0.413																																					Melanoma(149;1637 1853 29914 42869 44988)	uc002qoo.1		NA																	0				central_nervous_system(1)	1						c.(682-684)AGG>CGG		zinc finger protein 17							91.0	93.0	93.0					19																	57931542		2200	4299	6499	SO:0001819	synonymous_variant	7565				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57931542A>C	X52341	CCDS42636.1	19q13.43	2013-01-08	2006-05-10			ENSG00000186272		"""Zinc fingers, C2H2-type"", ""-"""	12958	protein-coding gene	gene with protein product			"""zinc finger protein 17 (HPF3, KOX 10)"""			2115127, 2014798	Standard	NM_006959		Approved	HPF3, KOX10, KIAA1947, FLJ40864, FLJ46058, FLJ46615	uc002qoo.1	P17021		ENST00000601808.1:c.682A>C	19.37:g.57931542A>C						ZNF547_uc002qpm.3_Intron|ZNF17_uc002qop.1_Silent_p.R230R	p.R228R	NM_006959	NP_008890	P17021	ZNF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)	3	913	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	228			C2H2-type 2.		B3KXU2|B3KY20|Q8N7M1|Q8N893|Q8TF54	Silent	SNP	ENST00000601808.1	37	c.682A>C	CCDS42636.1																																																																																				0.413	ZNF17-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466384.1	NM_006959		5	91	0	0	0	0	5	91				
PXDN	7837	broad.mit.edu	37	2	1652098	1652098	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:1652098G>T	ENST00000252804.4	-	17	3504	c.3454C>A	c.(3454-3456)Ctg>Atg	p.L1152M		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1152					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GCCAGGTCCAGAGCCACCGTG	0.647																																						uc002qxa.2		NA																	0				pancreas(6)|ovary(2)	8						c.(3454-3456)CTG>ATG		peroxidasin precursor							57.0	68.0	65.0					2																	1652098		2061	4224	6285	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1652098G>T	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.3454C>A	2.37:g.1652098G>T	ENSP00000252804:p.Leu1152Met						p.L1152M	NM_012293	NP_036425	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	17	3518	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	1152					A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.3454C>A	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.285840	0.59867	.	.	ENSG00000130508	ENST00000252804	T	0.71934	-0.61	5.59	3.77	0.43336	.	0.000000	0.64402	D	0.000001	T	0.77519	0.4142	M	0.62723	1.935	0.49213	D	0.999763	D	0.76494	0.999	D	0.81914	0.995	T	0.76482	-0.2943	10	0.51188	T	0.08	-33.4524	5.2696	0.15617	0.384:0.0:0.616:0.0	.	1152	Q92626	PXDN_HUMAN	M	1152	ENSP00000252804:L1152M	ENSP00000252804:L1152M	L	-	1	2	PXDN	1631105	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	4.078000	0.57606	1.367000	0.46095	0.650000	0.86243	CTG		0.647	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		24	42	1	0	1.38e-21	2.01e-21	24	42				
PXDN	7837	broad.mit.edu	37	2	1652817	1652817	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:1652817G>A	ENST00000252804.4	-	17	2785	c.2735C>T	c.(2734-2736)gCa>gTa	p.A912V		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	912					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CACGTTGGATGCGTCTATGTA	0.672																																						uc002qxa.2		NA																	0				pancreas(6)|ovary(2)	8						c.(2734-2736)GCA>GTA		peroxidasin precursor							30.0	32.0	32.0					2																	1652817		2083	4118	6201	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1652817G>A	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2735C>T	2.37:g.1652817G>A	ENSP00000252804:p.Ala912Val						p.A912V	NM_012293	NP_036425	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	17	2799	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	912					A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.2735C>T	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443540	0.83993	.	.	ENSG00000130508	ENST00000252804	T	0.72505	-0.66	5.36	4.48	0.54585	.	0.055176	0.64402	D	0.000001	D	0.87144	0.6104	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.90141	0.4213	10	0.72032	D	0.01	-41.473	14.2769	0.66187	0.0721:0.0:0.9279:0.0	.	912	Q92626	PXDN_HUMAN	V	912	ENSP00000252804:A912V	ENSP00000252804:A912V	A	-	2	0	PXDN	1631824	1.000000	0.71417	0.869000	0.34112	0.869000	0.49853	9.702000	0.98712	1.395000	0.46643	0.558000	0.71614	GCA		0.672	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		18	22	0	0	0	0	18	22				
PXDN	7837	broad.mit.edu	37	2	1668820	1668820	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:1668820G>C	ENST00000252804.4	-	11	1368	c.1318C>G	c.(1318-1320)Cag>Gag	p.Q440E	PXDN_ENST00000483018.1_5'Flank	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	440	Ig-like C2-type 3.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		ACTCTGTCCTGAGGCGTCACA	0.532																																						uc002qxa.2		NA																	0				pancreas(6)|ovary(2)	8						c.(1318-1320)CAG>GAG		peroxidasin precursor							46.0	48.0	47.0					2																	1668820		1939	4148	6087	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1668820G>C	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.1318C>G	2.37:g.1668820G>C	ENSP00000252804:p.Gln440Glu					PXDN_uc002qxb.1_Missense_Mutation_p.Q440E|PXDN_uc002qxc.1_Missense_Mutation_p.Q257E	p.Q440E	NM_012293	NP_036425	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	11	1382	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	440			Ig-like C2-type 3.		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.1318C>G	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	G	4.752	0.139878	0.09083	.	.	ENSG00000130508	ENST00000252804	T	0.66815	-0.23	5.55	0.0289	0.14160	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.559406	0.19859	N	0.104465	T	0.45175	0.1329	N	0.12527	0.23	0.29472	N	0.85695	B;B	0.11235	0.004;0.001	B;B	0.17979	0.02;0.02	T	0.29971	-0.9994	10	0.21014	T	0.42	-15.5006	13.6156	0.62105	0.0:0.4713:0.4148:0.1139	.	440;440	Q92626-2;Q92626	.;PXDN_HUMAN	E	440	ENSP00000252804:Q440E	ENSP00000252804:Q440E	Q	-	1	0	PXDN	1647827	0.998000	0.40836	0.014000	0.15608	0.067000	0.16453	2.662000	0.46766	-0.006000	0.14370	0.563000	0.77884	CAG		0.532	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		9	8	0	0	0	0	9	8				
HPCAL1	3241	broad.mit.edu	37	2	10563138	10563138	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:10563138G>A	ENST00000381765.3	+	5	934	c.408G>A	c.(406-408)atG>atA	p.M136I	HPCAL1_ENST00000307845.3_Missense_Mutation_p.M136I	NM_134421.2	NP_602293.1	P37235	HPCL1_HUMAN	hippocalcin-like 1	136					signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		CGTCTGTGATGAAGATGCCGG	0.622																																					Pancreas(70;1384 1800 31595 46836)	uc002raj.2		NA																	0				pancreas(1)	1						c.(406-408)ATG>ATA		hippocalcin-like 1							110.0	91.0	98.0					2																	10563138		2203	4300	6503	SO:0001583	missense	3241						calcium ion binding	g.chr2:10563138G>A		CCDS1671.1	2p25.1	2013-01-10			ENSG00000115756	ENSG00000115756		"""EF-hand domain containing"""	5145	protein-coding gene	gene with protein product	"""visinin-like protein 3"", ""calcium-binding protein BDR-1"""	600207				8038222, 14739275	Standard	NM_002149		Approved	BDR1, HLP2, VILIP-3	uc031rnq.1	P37235	OTTHUMG00000090451	ENST00000381765.3:c.408G>A	2.37:g.10563138G>A	ENSP00000371184:p.Met136Ile					HPCAL1_uc002rak.2_Missense_Mutation_p.M136I|HPCAL1_uc002ral.2_Missense_Mutation_p.M136I|HPCAL1_uc010exe.2_RNA|HPCAL1_uc010exf.2_Missense_Mutation_p.M136I	p.M136I	NM_002149	NP_002140	P37235	HPCL1_HUMAN		Epithelial(75;0.214)	4	782	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		136					Q969S5	Missense_Mutation	SNP	ENST00000381765.3	37	c.408G>A	CCDS1671.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.57|16.57	3.160774|3.160774	0.57368|0.57368	.|.	.|.	ENSG00000115756|ENSG00000115756	ENST00000422133|ENST00000307845;ENST00000381765	.|T;T	.|0.65549	.|-0.16;-0.16	4.93|4.93	4.06|4.06	0.47325|0.47325	.|EF-hand-like domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.50582|0.50582	0.1624|0.1624	L|L	0.31065|0.31065	0.9|0.9	0.58432|0.58432	D|D	0.999999|0.999999	.|B	.|0.12630	.|0.006	.|B	.|0.16722	.|0.016	T|T	0.47235|0.47235	-0.9133|-0.9133	5|10	.|0.51188	.|T	.|0.08	.|.	13.1603|13.1603	0.59540|0.59540	0.077:0.0:0.923:0.0|0.077:0.0:0.923:0.0	.|.	.|136	.|P37235	.|HPCL1_HUMAN	K|I	49|136	.|ENSP00000310749:M136I;ENSP00000371184:M136I	.|ENSP00000310749:M136I	E|M	+|+	1|3	0|0	HPCAL1|HPCAL1	10480589|10480589	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.644000|0.644000	0.38419|0.38419	7.948000|7.948000	0.87774|0.87774	1.077000|1.077000	0.40990|0.40990	0.655000|0.655000	0.94253|0.94253	GAA|ATG		0.622	HPCAL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206898.1	NM_002149		11	36	0	0	0	0	11	36				
NBAS	51594	broad.mit.edu	37	2	15415825	15415825	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:15415825T>A	ENST00000281513.5	-	44	5532	c.5507A>T	c.(5506-5508)aAg>aTg	p.K1836M	NBAS_ENST00000441750.1_Missense_Mutation_p.K1716M	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1836					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CTGTCCATCCTTTTCAGGGAT	0.433																																						uc002rcc.1		NA																	0				ovary(2)|liver(1)|skin(1)	4						c.(5506-5508)AAG>ATG		neuroblastoma-amplified protein							95.0	98.0	97.0					2																	15415825		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15415825T>A	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.5507A>T	2.37:g.15415825T>A	ENSP00000281513:p.Lys1836Met					NBAS_uc010exl.1_Missense_Mutation_p.K908M|NBAS_uc002rcd.1_RNA	p.K1836M	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN			44	5533	-			1836					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.5507A>T	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.36|17.36	3.369352|3.369352	0.61624|0.61624	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513|ENST00000442506	T;T|.	0.12879|.	2.64;2.81|.	5.35|5.35	4.13|4.13	0.48395|0.48395	.|.	0.224781|.	0.46442|.	D|.	0.000295|.	T|T	0.60547|0.60547	0.2277|0.2277	L|L	0.60455|0.60455	1.87|1.87	0.41585|0.41585	D|D	0.988762|0.988762	D;D|.	0.89917|.	1.0;0.999|.	D;P|.	0.74348|.	0.983;0.865|.	T|T	0.59857|0.59857	-0.7375|-0.7375	10|5	0.87932|.	D|.	0|.	.|.	8.2517|8.2517	0.31730|0.31730	0.1304:0.0:0.1356:0.734|0.1304:0.0:0.1356:0.734	.|.	1716;1836|.	A2RRP1-2;A2RRP1|.	.;NBAS_HUMAN|.	M|W	1716;1836|884	ENSP00000413201:K1716M;ENSP00000281513:K1836M|.	ENSP00000281513:K1836M|.	K|R	-|-	2|1	0|2	NBAS|NBAS	15333276|15333276	0.292000|0.292000	0.24362|0.24362	0.994000|0.994000	0.49952|0.49952	0.993000|0.993000	0.82548|0.82548	0.999000|0.999000	0.29757|0.29757	2.161000|2.161000	0.67846|0.67846	0.482000|0.482000	0.46254|0.46254	AAG|AGG		0.433	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		17	54	0	0	0	0	17	54				
DNMT3A	1788	broad.mit.edu	37	2	25464448	25464448	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:25464448T>A	ENST00000264709.3	-	17	2402	c.2065A>T	c.(2065-2067)Agc>Tgc	p.S689C	DNMT3A_ENST00000321117.5_Missense_Mutation_p.S689C|DNMT3A_ENST00000402667.1_Missense_Mutation_p.S466C|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000380746.4_Missense_Mutation_p.S500C	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	689	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTGTGACGCTGCGGACGTCC	0.612			"""Mis, F, N, S"""		AML																																	uc002rgc.2		NA		Rec	yes		2	2p23	1788	Mis|F|N|S	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3)	140						c.(2065-2067)AGC>TGC		DNA cytosine methyltransferase 3 alpha isoform							131.0	94.0	107.0					2																	25464448		2203	4300	6503	SO:0001583	missense	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25464448T>A		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2065A>T	2.37:g.25464448T>A	ENSP00000264709:p.Ser689Cys					DNMT3A_uc002rgd.2_Missense_Mutation_p.S689C|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Missense_Mutation_p.S500C	p.S689C	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN			17	2322	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		689					E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	c.2065A>T	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	T	17.34	3.365668	0.61513	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9	5.44	5.44	0.79542	.	0.222785	0.52532	D	0.000075	T	0.80385	0.4613	L	0.29908	0.895	0.80722	D	1	P;D	0.53885	0.719;0.963	P;B	0.44447	0.45;0.318	D	0.83526	0.0088	10	0.87932	D	0	-12.4458	14.3204	0.66482	0.0:0.0:0.0:1.0	.	689;500	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	C	500;689;689;466	ENSP00000370122:S500C;ENSP00000324375:S689C;ENSP00000264709:S689C;ENSP00000384237:S466C	ENSP00000264709:S689C	S	-	1	0	DNMT3A	25317952	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.046000	0.64226	2.076000	0.62316	0.454000	0.30748	AGC		0.612	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		9	43	0	0	0	0	9	43				
TRMT61B	55006	broad.mit.edu	37	2	29074027	29074027	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:29074027T>C	ENST00000306108.5	-	5	1246	c.1223A>G	c.(1222-1224)aAa>aGa	p.K408R	TRMT61B_ENST00000484060.1_5'Flank	NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	408					mitochondrial tRNA methylation (GO:0070901)|protein homooligomerization (GO:0051260)	mitochondrion (GO:0005739)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						AGATTCTACTTTTTGAGCTAA	0.378																																						uc002rmm.2		NA																	0					0						c.(1222-1224)AAA>AGA		tRNA methyltransferase 61 homolog B							104.0	96.0	99.0					2																	29074027		2203	4300	6503	SO:0001583	missense	55006						tRNA (adenine-N1-)-methyltransferase activity	g.chr2:29074027T>C	BC010365	CCDS1768.1	2p23.2	2009-01-09			ENSG00000171103	ENSG00000171103			26070	protein-coding gene	gene with protein product						11230166	Standard	NM_017910		Approved	FLJ20628	uc002rmm.3	Q9BVS5	OTTHUMG00000128433	ENST00000306108.5:c.1223A>G	2.37:g.29074027T>C	ENSP00000302801:p.Lys408Arg					TRMT61B_uc002rmn.2_Missense_Mutation_p.K408R|TRMT61B_uc010ezk.2_Intron	p.K408R	NM_017910	NP_060380	Q9BVS5	TR61B_HUMAN			5	1255	-			408					Q9H0Q9|Q9NWS7	Missense_Mutation	SNP	ENST00000306108.5	37	c.1223A>G	CCDS1768.1	.	.	.	.	.	.	.	.	.	.	T	4.068	0.010363	0.07912	.	.	ENSG00000171103	ENST00000306108	T	0.21031	2.03	5.61	1.95	0.26073	.	0.317981	0.23791	N	0.044531	T	0.05364	0.0142	N	0.02539	-0.55	0.22435	N	0.999102	B	0.13594	0.008	B	0.13407	0.009	T	0.39742	-0.9599	10	0.02654	T	1	.	3.9105	0.09201	0.1963:0.4683:0.0:0.3354	.	408	Q9BVS5	TR61B_HUMAN	R	408	ENSP00000302801:K408R	ENSP00000302801:K408R	K	-	2	0	TRMT61B	28927531	0.955000	0.32602	0.894000	0.35097	0.646000	0.38490	0.710000	0.25748	0.420000	0.25954	-0.280000	0.10049	AAA		0.378	TRMT61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250224.1	NM_017910		7	39	0	0	0	0	7	39				
BIRC6	57448	broad.mit.edu	37	2	32740755	32740755	+	Missense_Mutation	SNP	G	G	A	rs138598333	byFrequency	TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:32740755G>A	ENST00000421745.2	+	55	11401	c.11267G>A	c.(11266-11268)cGc>cAc	p.R3756H		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3756					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ACTCAACAGCGCACAGCAATT	0.433													G|||	4	0.000798722	0.0	0.0014	5008	,	,		21309	0.0		0.003	False		,,,				2504	0.0				Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2		NA																	0				ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(11266-11268)CGC>CAC		baculoviral IAP repeat-containing 6		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	63.0	60.0	61.0		11267	5.5	1.0	2	dbSNP_134	61	19,8581	14.0+/-48.4	0,19,4281	yes	missense	BIRC6	NM_016252.3	29	0,20,6483	AA,AG,GG		0.2209,0.0227,0.1538	probably-damaging	3756/4858	32740755	20,12986	2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32740755G>A	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.11267G>A	2.37:g.32740755G>A	ENSP00000393596:p.Arg3756His						p.R3756H	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			55	11401	+	Acute lymphoblastic leukemia(172;0.155)		3756					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.11267G>A	CCDS33175.2	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	G	15.62	2.887242	0.52014	2.27E-4	0.002209	ENSG00000115760	ENST00000421745	T	0.75050	-0.9	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.80763	0.4685	L	0.55481	1.735	0.58432	D	0.999998	D	0.71674	0.998	P	0.57324	0.818	T	0.76490	-0.2940	10	0.23891	T	0.37	.	19.4028	0.94637	0.0:0.0:1.0:0.0	.	3756	Q9NR09	BIRC6_HUMAN	H	3756	ENSP00000393596:R3756H	ENSP00000393596:R3756H	R	+	2	0	BIRC6	32594259	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	8.062000	0.89475	2.592000	0.87571	0.585000	0.79938	CGC		0.433	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		11	47	0	0	0	0	11	47				
TTC27	55622	broad.mit.edu	37	2	32859031	32859031	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:32859031C>G	ENST00000317907.4	+	3	586	c.355C>G	c.(355-357)Cag>Gag	p.Q119E	MIR4765_ENST00000585007.1_RNA	NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	119										breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						CTTACACCCTCAGGACTTTTT	0.363																																						uc002rom.2		NA																	0				central_nervous_system(1)	1						c.(355-357)CAG>GAG		tetratricopeptide repeat domain 27							130.0	127.0	128.0					2																	32859031		2203	4300	6503	SO:0001583	missense	55622						protein binding	g.chr2:32859031C>G	BC063791, AK000279	CCDS33176.1	2p22.3	2013-01-10			ENSG00000018699	ENSG00000018699		"""Tetratricopeptide (TTC) repeat domain containing"""	25986	protein-coding gene	gene with protein product							Standard	NM_001193509		Approved	FLJ20272	uc002rom.3	Q6P3X3	OTTHUMG00000152134	ENST00000317907.4:c.355C>G	2.37:g.32859031C>G	ENSP00000313953:p.Gln119Glu					TTC27_uc010ymx.1_Missense_Mutation_p.Q69E	p.Q119E	NM_017735	NP_060205	Q6P3X3	TTC27_HUMAN			3	586	+			119					A6NKJ0|Q96SS5|Q9BVF1|Q9NWR4|Q9NXG4	Missense_Mutation	SNP	ENST00000317907.4	37	c.355C>G	CCDS33176.1	.	.	.	.	.	.	.	.	.	.	C	10.81	1.455885	0.26161	.	.	ENSG00000018699	ENST00000448773;ENST00000317907	T	0.57595	0.39	5.53	5.53	0.82687	.	0.339062	0.29791	N	0.011199	T	0.43523	0.1251	L	0.47716	1.5	0.38283	D	0.942484	B	0.02656	0.0	B	0.04013	0.001	T	0.38415	-0.9662	10	0.07990	T	0.79	-7.6938	14.5168	0.67824	0.0:0.8524:0.1476:0.0	.	119	Q6P3X3	TTC27_HUMAN	E	69;119	ENSP00000313953:Q119E	ENSP00000313953:Q119E	Q	+	1	0	TTC27	32712535	1.000000	0.71417	1.000000	0.80357	0.592000	0.36648	2.982000	0.49337	2.587000	0.87381	0.563000	0.77884	CAG		0.363	TTC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325395.1	NM_017735		23	64	0	0	0	0	23	64				
LTBP1	4052	broad.mit.edu	37	2	33246136	33246136	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:33246136G>T	ENST00000404816.2	+	3	1079	c.726G>T	c.(724-726)tgG>tgT	p.W242C	LTBP1_ENST00000354476.3_Missense_Mutation_p.W242C			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	242					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CTTCCTCGTGGGGCCCTCCTG	0.562																																						uc002ros.2		NA																	0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(724-726)TGG>TGT		latent transforming growth factor beta binding							107.0	110.0	109.0					2																	33246136		2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33246136G>T		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.726G>T	2.37:g.33246136G>T	ENSP00000386043:p.Trp242Cys						p.W242C	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			3	726	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	242					A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.726G>T	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	G	16.11	3.029140	0.54790	.	.	ENSG00000049323	ENST00000404816;ENST00000354476	T;T	0.80653	-1.4;-1.38	4.99	4.99	0.66335	.	.	.	.	.	T	0.80560	0.4646	L	0.36672	1.1	0.80722	D	1	D	0.54964	0.969	P	0.50378	0.639	T	0.81662	-0.0831	9	0.48119	T	0.1	.	18.6499	0.91427	0.0:0.0:1.0:0.0	.	242	Q14766-4	.	C	242	ENSP00000386043:W242C;ENSP00000346467:W242C	ENSP00000346467:W242C	W	+	3	0	LTBP1	33099640	1.000000	0.71417	0.769000	0.31535	0.588000	0.36517	7.493000	0.81493	2.462000	0.83206	0.637000	0.83480	TGG		0.562	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		65	83	1	0	6.17e-39	9.53e-39	65	83				
WDPCP	51057	broad.mit.edu	37	2	63380060	63380060	+	Missense_Mutation	SNP	C	C	A	rs369786224	byFrequency	TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:63380060C>A	ENST00000272321.7	-	17	2706	c.2179G>T	c.(2179-2181)Ggc>Tgc	p.G727C	WDPCP_ENST00000398544.3_Missense_Mutation_p.G568C|WDPCP_ENST00000409199.1_Missense_Mutation_p.G535C|WDPCP_ENST00000409120.1_Missense_Mutation_p.G535C	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	727					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						TGTTCTCTGCCGTCTTCTCTC	0.274																																						uc002sch.2		NA																	0					0						c.(2179-2181)GGC>TGC		hypothetical protein LOC51057 isoform 2																																				SO:0001583	missense	51057				cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane		g.chr2:63380060C>A		CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"""chromosome 2 open reading frame 86"""	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.2179G>T	2.37:g.63380060C>A	ENSP00000272321:p.Gly727Cys					C2orf86_uc002sce.2_RNA|C2orf86_uc002scf.2_Missense_Mutation_p.G568C|C2orf86_uc010ypu.1_RNA|C2orf86_uc002scg.2_Missense_Mutation_p.G535C	p.G727C	NM_015910	NP_056994	O95876	FRITZ_HUMAN			17	2625	-			727					Q53RW4|Q7Z2Z3	Missense_Mutation	SNP	ENST00000272321.7	37	c.2179G>T	CCDS42688.1	.	.	.	.	.	.	.	.	.	.	C	0.305	-0.971314	0.02232	.	.	ENSG00000143951	ENST00000272321;ENST00000409199;ENST00000409120;ENST00000398544	T;T;T;T	0.72282	-0.64;-0.05;-0.05;-0.05	5.05	-0.217	0.13149	.	1.498150	0.04567	N	0.392635	T	0.49712	0.1573	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.32981	-0.9886	10	0.38643	T	0.18	10.8925	6.6603	0.23011	0.4257:0.4843:0.09:0.0	.	727;568	O95876;O95876-3	FRITZ_HUMAN;.	C	727;535;535;568	ENSP00000272321:G727C;ENSP00000386592:G535C;ENSP00000386769:G535C;ENSP00000381552:G568C	ENSP00000272321:G727C	G	-	1	0	WDPCP	63233564	0.020000	0.18652	0.023000	0.16930	0.002000	0.02628	0.406000	0.21032	-0.279000	0.09167	-1.159000	0.01794	GGC		0.274	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326820.1	NM_015910		10	29	1	0	1.05e-09	1.33e-09	10	29				
SPRED2	200734	broad.mit.edu	37	2	65540979	65540979	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:65540979C>G	ENST00000356388.4	-	6	1102	c.913G>C	c.(913-915)Gag>Cag	p.E305Q	SPRED2_ENST00000443619.2_Missense_Mutation_p.E302Q|SPRED2_ENST00000474228.1_5'Flank	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	305					inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						CGCGAGCGCTCTCCGTCCTCC	0.682																																						uc002sdr.3		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(913-915)GAG>CAG		sprouty-related protein with EVH-1 domain 2							52.0	57.0	55.0					2																	65540979		2203	4296	6499	SO:0001583	missense	200734				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding	g.chr2:65540979C>G	AF052178	CCDS33211.1, CCDS46308.1	2p14	2003-06-02			ENSG00000198369	ENSG00000198369			17722	protein-coding gene	gene with protein product		609292					Standard	NM_181784		Approved	Spred-2, FLJ21897, FLJ31917	uc002sdr.4	Q7Z698	OTTHUMG00000152737	ENST00000356388.4:c.913G>C	2.37:g.65540979C>G	ENSP00000348753:p.Glu305Gln					SPRED2_uc010fcw.2_Missense_Mutation_p.E302Q	p.E305Q	NM_181784	NP_861449	Q7Z698	SPRE2_HUMAN			6	1448	-			305					A1L3V4|B7Z5K7|D6W5F7|E9PEP0|Q2NKX6	Missense_Mutation	SNP	ENST00000356388.4	37	c.913G>C	CCDS33211.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.254103	0.80135	.	.	ENSG00000198369	ENST00000356388;ENST00000443619;ENST00000452315;ENST00000421087	T;T;T;T	0.78481	-1.17;-1.17;-1.18;-0.2	5.75	5.75	0.90469	.	0.094831	0.64402	D	0.000001	T	0.80444	0.4624	M	0.74647	2.275	0.80722	D	1	P;P	0.41643	0.758;0.689	B;B	0.40066	0.318;0.252	T	0.82104	-0.0622	10	0.54805	T	0.06	-33.4216	19.9598	0.97242	0.0:1.0:0.0:0.0	.	302;305	E9PEP0;Q7Z698	.;SPRE2_HUMAN	Q	305;302;320;187	ENSP00000348753:E305Q;ENSP00000393697:E302Q;ENSP00000390595:E320Q;ENSP00000407627:E187Q	ENSP00000348753:E305Q	E	-	1	0	SPRED2	65394483	1.000000	0.71417	0.967000	0.41034	0.982000	0.71751	7.747000	0.85070	2.716000	0.92895	0.655000	0.94253	GAG		0.682	SPRED2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327632.1			20	94	0	0	0	0	20	94				
SMYD5	10322	broad.mit.edu	37	2	73446061	73446061	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:73446061G>T	ENST00000389501.4	+	2	214	c.169G>T	c.(169-171)Gca>Tca	p.A57S	SMYD5_ENST00000474652.1_3'UTR	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	57	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						CCTGGTGGCTGCACAGTTTCT	0.557																																						uc002siw.2		NA																	0					0						c.(169-171)GCA>TCA		SMYD family member 5							113.0	113.0	113.0					2																	73446061		2019	4173	6192	SO:0001583	missense	10322						metal ion binding	g.chr2:73446061G>T	U50383	CCDS33221.2	2p12	2007-02-09	2003-05-14	2003-05-16	ENSG00000135632	ENSG00000135632		"""Zinc fingers, MYND-type"""	16258	protein-coding gene	gene with protein product			"""retinoic acid induced 15"""	RAI15		8754834	Standard	NM_006062		Approved	RRG1, NN8-4AG, ZMYND23	uc002siw.2	Q6GMV2	OTTHUMG00000150482	ENST00000389501.4:c.169G>T	2.37:g.73446061G>T	ENSP00000374152:p.Ala57Ser					SMYD5_uc010yre.1_5'UTR	p.A57S	NM_006062	NP_006053	Q6GMV2	SMYD5_HUMAN			2	198	+			57					D6W5H3|Q13558	Missense_Mutation	SNP	ENST00000389501.4	37	c.169G>T	CCDS33221.2	.	.	.	.	.	.	.	.	.	.	G	12.84	2.058762	0.36277	.	.	ENSG00000135632	ENST00000389501;ENST00000443900	T;T	0.79845	-1.31;1.03	5.47	2.17	0.27698	SET domain (2);	0.320352	0.33253	N	0.005109	T	0.58133	0.2101	N	0.11673	0.155	0.31653	N	0.646614	B	0.10296	0.003	B	0.15484	0.013	T	0.51911	-0.8645	10	0.21014	T	0.42	-5.5379	6.425	0.21764	0.0895:0.0:0.4419:0.4686	.	57	Q6GMV2	SMYD5_HUMAN	S	57;30	ENSP00000374152:A57S;ENSP00000412587:A30S	ENSP00000258100:A57S	A	+	1	0	SMYD5	73299569	0.985000	0.35326	0.970000	0.41538	0.957000	0.61999	2.312000	0.43726	0.746000	0.32786	0.650000	0.86243	GCA		0.557	SMYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318301.1	NM_006062		17	44	1	0	2.38e-13	3.17e-13	17	44				
LOXL3	84695	broad.mit.edu	37	2	74763195	74763195	+	Silent	SNP	T	T	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:74763195T>A	ENST00000264094.3	-	7	1247	c.1176A>T	c.(1174-1176)acA>acT	p.T392T	LOXL3_ENST00000409986.1_Silent_p.T247T|LOXL3_ENST00000409549.1_Silent_p.T392T|LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000393937.2_Silent_p.T247T	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	392	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						AATCCTCAGCTGTGATGTTCT	0.567																																						uc002smp.1		NA																	0					0						c.(1174-1176)ACA>ACT		lysyl oxidase-like 3 precursor							95.0	93.0	94.0					2																	74763195		2203	4300	6503	SO:0001819	synonymous_variant	84695					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity	g.chr2:74763195T>A	AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.1176A>T	2.37:g.74763195T>A						LOXL3_uc002smo.1_Silent_p.T31T|LOXL3_uc010ffm.1_Silent_p.T392T|LOXL3_uc002smq.1_Silent_p.T247T|LOXL3_uc010ffn.1_Silent_p.T247T	p.T392T	NM_032603	NP_115992	P58215	LOXL3_HUMAN			7	1248	-			392			SRCR 3.		D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Silent	SNP	ENST00000264094.3	37	c.1176A>T	CCDS1953.1	.	.	.	.	.	.	.	.	.	.	T	7.339	0.620515	0.14193	.	.	ENSG00000115318	ENST00000420535	.	.	.	5.09	-5.87	0.02297	.	.	.	.	.	T	0.35422	0.0931	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41698	-0.9494	4	.	.	.	.	1.2641	0.02007	0.4547:0.229:0.116:0.2003	.	.	.	.	C	119	.	.	S	-	1	0	LOXL3	74616703	0.006000	0.16342	0.962000	0.40283	0.882000	0.50991	-1.315000	0.02713	-0.731000	0.04862	-0.389000	0.06534	AGC		0.567	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1	NM_032603		39	46	0	0	0	0	39	46				
REG1A	5967	broad.mit.edu	37	2	79349979	79349979	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:79349979C>T	ENST00000233735.1	+	5	437	c.334C>T	c.(334-336)Cac>Tac	p.H112Y		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	112	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						CCGCCGCTGGCACTGGAGCAG	0.557																																						uc002snz.2		NA																	0					0						c.(334-336)CAC>TAC		regenerating islet-derived 1 alpha precursor							111.0	110.0	110.0					2																	79349979		2203	4300	6503	SO:0001583	missense	5967				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	g.chr2:79349979C>T		CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386			9951	protein-coding gene	gene with protein product	"""pancreatic stone protein"", ""pancreatic thread protein"""	167770	"""regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)"""	REG		2332435, 8333731	Standard	NM_002909		Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.334C>T	2.37:g.79349979C>T	ENSP00000233735:p.His112Tyr					REG1A_uc010ysd.1_Missense_Mutation_p.H112Y	p.H112Y	NM_002909	NP_002900	P05451	REG1A_HUMAN			5	437	+			112			C-type lectin.		P11379|Q4ZG28	Missense_Mutation	SNP	ENST00000233735.1	37	c.334C>T	CCDS1964.1	.	.	.	.	.	.	.	.	.	.	c	12.07	1.827767	0.32329	.	.	ENSG00000115386	ENST00000233735	T	0.07327	3.2	2.92	-1.29	0.09288	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.580363	0.14402	N	0.321842	T	0.12902	0.0313	L	0.49126	1.545	0.25152	N	0.990414	D	0.67145	0.996	P	0.61003	0.882	T	0.14811	-1.0459	10	0.62326	D	0.03	.	1.411	0.02292	0.1955:0.3491:0.3152:0.1402	.	112	P05451	REG1A_HUMAN	Y	112	ENSP00000233735:H112Y	ENSP00000233735:H112Y	H	+	1	0	REG1A	79203487	0.195000	0.23338	0.988000	0.46212	0.878000	0.50629	-0.127000	0.10547	-0.033000	0.13736	-0.226000	0.12346	CAC		0.557	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1	NM_002909		34	120	0	0	0	0	34	120				
PROM2	150696	broad.mit.edu	37	2	95952298	95952298	+	Silent	SNP	C	C	A	rs368792968		TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:95952298C>A	ENST00000317620.9	+	17	2152	c.2019C>A	c.(2017-2019)gtC>gtA	p.V673V	PROM2_ENST00000403131.2_Silent_p.V673V|PROM2_ENST00000317668.4_Silent_p.V673V|PROM2_ENST00000542147.1_Silent_p.V624V	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	673					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						AGGAGAAGGTCGTCCCCCAGC	0.612																																						uc002suh.1		NA																	0				ovary(1)	1						c.(2017-2019)GTC>GTA		prominin 2 precursor							55.0	55.0	55.0					2																	95952298		2203	4300	6503	SO:0001819	synonymous_variant	150696					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		g.chr2:95952298C>A	AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.2019C>A	2.37:g.95952298C>A						PROM2_uc002sui.2_Silent_p.V673V|PROM2_uc002suj.2_Silent_p.V327V|PROM2_uc002suk.2_Silent_p.V673V|PROM2_uc002sul.2_Silent_p.V199V|PROM2_uc002sum.2_RNA	p.V673V	NM_144707	NP_653308	Q8N271	PROM2_HUMAN			17	2152	+			673			Extracellular (Potential).		A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Silent	SNP	ENST00000317620.9	37	c.2019C>A	CCDS2012.1																																																																																				0.612	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	NM_144707		34	44	1	0	2.87e-16	3.98e-16	34	44				
AFF3	3899	broad.mit.edu	37	2	100623731	100623731	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:100623731G>A	ENST00000409236.2	-	4	478	c.366C>T	c.(364-366)ccC>ccT	p.P122P	AFF3_ENST00000356421.2_Silent_p.P147P|AFF3_ENST00000409579.1_Silent_p.P147P|AFF3_ENST00000317233.4_Silent_p.P122P			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	122					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						AGATAGACGAGGGCTGGTTCT	0.537																																						uc002tag.2		NA																	0				ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						c.(364-366)CCC>CCT		AF4/FMR2 family, member 3 isoform 1							126.0	136.0	133.0					2																	100623731		2203	4300	6503	SO:0001819	synonymous_variant	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100623731G>A	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.366C>T	2.37:g.100623731G>A						AFF3_uc002taf.2_Silent_p.P147P|AFF3_uc010fiq.1_Silent_p.P122P|AFF3_uc010yvr.1_Silent_p.P276P|AFF3_uc002tah.1_Silent_p.P147P|AFF3_uc010fir.1_Silent_p.P199P|AFF3_uc002tai.2_Silent_p.P44P	p.P122P	NM_002285	NP_002276	P51826	AFF3_HUMAN			5	602	-			122					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Silent	SNP	ENST00000409236.2	37	c.366C>T	CCDS42723.1																																																																																				0.537	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		41	58	0	0	0	0	41	58				
CCDC138	165055	broad.mit.edu	37	2	109408221	109408221	+	Silent	SNP	G	G	A	rs36034137	byFrequency	TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:109408221G>A	ENST00000295124.4	+	4	417	c.357G>A	c.(355-357)tcG>tcA	p.S119S	CCDC138_ENST00000470608.1_3'UTR|CCDC138_ENST00000412964.2_Silent_p.S119S	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	119										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						TTAGTACCTCGAAAATAACCA	0.284													G|||	13	0.00259585	0.0091	0.0	5008	,	,		15502	0.001		0.0	False		,,,				2504	0.0					uc002ten.1		NA																	0					0						c.(355-357)TCG>TCA		coiled-coil domain containing 138		G		31,4367	31.7+/-61.6	0,31,2168	60.0	70.0	67.0		357	1.4	0.0	2	dbSNP_126	67	5,8585	3.0+/-9.4	0,5,4290	no	coding-synonymous	CCDC138	NM_144978.1		0,36,6458	AA,AG,GG		0.0582,0.7049,0.2772		119/666	109408221	36,12952	2199	4295	6494	SO:0001819	synonymous_variant	165055							g.chr2:109408221G>A	AK057307	CCDS2080.1	2q13	2008-02-05			ENSG00000163006	ENSG00000163006			26531	protein-coding gene	gene with protein product						12477932	Standard	NM_144978		Approved	FLJ32745	uc002ten.1	Q96M89	OTTHUMG00000130980	ENST00000295124.4:c.357G>A	2.37:g.109408221G>A						CCDC138_uc002teo.1_Silent_p.S119S|CCDC138_uc002tep.1_5'UTR|CCDC138_uc010fjm.1_5'UTR	p.S119S	NM_144978	NP_659415	Q96M89	CC138_HUMAN			4	417	+			119					Q05DF1|Q4ZG07|Q53TE1|Q6ZUY5|Q86VL7	Silent	SNP	ENST00000295124.4	37	c.357G>A	CCDS2080.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	2.720	-0.266886	0.05754	0.007049	5.82E-4	ENSG00000163006	ENST00000456512	.	.	.	5.44	1.37	0.22104	.	.	.	.	.	T	0.15652	0.0377	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	T	0.19063	-1.0317	4	.	.	.	11.2394	2.108	0.03695	0.2703:0.4417:0.1326:0.1553	rs36034137	.	.	.	Q	17	.	.	R	+	2	0	CCDC138	108774653	0.000000	0.05858	0.045000	0.18777	0.586000	0.36452	-0.117000	0.10708	0.353000	0.24079	-0.128000	0.14901	CGA		0.284	CCDC138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253593.1	NM_144978		18	101	0	0	0	0	18	101				
DPP10	57628	broad.mit.edu	37	2	116598360	116598360	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:116598360C>G	ENST00000410059.1	+	25	2697	c.2217C>G	c.(2215-2217)atC>atG	p.I739M	DPP10_ENST00000409163.1_Missense_Mutation_p.I689M|DPP10_ENST00000310323.8_Missense_Mutation_p.I732M|DPP10_ENST00000393147.2_Missense_Mutation_p.I743M	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	739						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CAGAATTAATCAAGCACCTAA	0.343																																						uc002tla.1		NA																	0				ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						c.(2215-2217)ATC>ATG		dipeptidyl peptidase 10 isoform long							99.0	98.0	98.0					2																	116598360		2203	4300	6503	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116598360C>G	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.2217C>G	2.37:g.116598360C>G	ENSP00000386565:p.Ile739Met					DPP10_uc002tlb.1_Missense_Mutation_p.I689M|DPP10_uc002tlc.1_Missense_Mutation_p.I735M|DPP10_uc002tle.2_Missense_Mutation_p.I743M|DPP10_uc002tlf.1_Missense_Mutation_p.I732M	p.I739M	NM_020868	NP_065919	Q8N608	DPP10_HUMAN			25	2674	+			739			Extracellular (Potential).		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.2217C>G	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.343808	0.61073	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	5.99	5.11	0.69529	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.163360	0.53938	D	0.000051	T	0.39784	0.1091	L	0.38953	1.18	0.40583	D	0.981416	D;D;D;D	0.67145	0.995;0.994;0.996;0.996	D;D;D;D	0.72625	0.963;0.943;0.978;0.978	T	0.38929	-0.9638	10	0.59425	D	0.04	-11.1582	5.6065	0.17383	0.1727:0.6805:0.0:0.1468	.	732;743;735;739	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	M	739;689;743;732	ENSP00000386565:I739M;ENSP00000387038:I689M;ENSP00000376855:I743M;ENSP00000309066:I732M	ENSP00000309066:I732M	I	+	3	3	DPP10	116314830	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.693000	0.37742	1.508000	0.48769	0.655000	0.94253	ATC		0.343	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		37	52	0	0	0	0	37	52				
GLI2	2736	broad.mit.edu	37	2	121555035	121555035	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:121555035G>A	ENST00000452319.1	+	2	199	c.139G>A	c.(139-141)Gcc>Acc	p.A47T	GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.A47T|GLI2_ENST00000314490.11_5'UTR					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AGCGGTAGCTGCCCAAGGAGG	0.572																																						uc010flp.2		NA																	0				ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13						c.(139-141)GCC>ACC		GLI-Kruppel family member GLI2							34.0	41.0	39.0					2																	121555035		2203	4300	6503	SO:0001583	missense	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121555035G>A		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.139G>A	2.37:g.121555035G>A	ENSP00000390436:p.Ala47Thr					GLI2_uc010yyu.1_Missense_Mutation_p.A47T|GLI2_uc002tmp.1_Missense_Mutation_p.A47T|GLI2_uc010fln.1_RNA|GLI2_uc002tmq.1_5'UTR|GLI2_uc002tmr.1_5'UTR|GLI2_uc002tmt.3_5'UTR|GLI2_uc002tmu.3_5'UTR|GLI2_uc002tmv.1_Missense_Mutation_p.A47T|GLI2_uc010flo.1_5'UTR|GLI2_uc002tmw.1_Missense_Mutation_p.A47T	p.A47T	NM_005270	NP_005261	P10070	GLI2_HUMAN			1	169	+	Renal(3;0.0496)	Prostate(154;0.0623)	47						Missense_Mutation	SNP	ENST00000452319.1	37	c.139G>A	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.550866	0.27739	.	.	ENSG00000074047	ENST00000418323;ENST00000452319;ENST00000361492;ENST00000440937;ENST00000360874	T;T	0.20069	2.1;2.1	5.86	4.07	0.47477	.	0.000000	0.36002	N	0.002850	T	0.14614	0.0353	L	0.29908	0.895	0.80722	D	1	B;B;B;B	0.17038	0.001;0.0;0.001;0.02	B;B;B;B	0.20184	0.006;0.001;0.001;0.028	T	0.06320	-1.0833	10	0.56958	D	0.05	.	6.2432	0.20803	0.2029:0.0:0.6672:0.1299	.	47;47;47;47	B4DT63;P10070;Q0VGA0;F5H4D9	.;GLI2_HUMAN;.;.	T	47;47;47;47;39	ENSP00000390436:A47T;ENSP00000354586:A47T	ENSP00000344473:A47T	A	+	1	0	GLI2	121271505	1.000000	0.71417	0.980000	0.43619	0.636000	0.38137	2.252000	0.43196	0.823000	0.34589	-0.123000	0.14984	GCC		0.572	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		29	66	0	0	0	0	29	66				
MAP3K19	80122	broad.mit.edu	37	2	135744037	135744037	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:135744037G>A	ENST00000375845.3	-	7	2435	c.2405C>T	c.(2404-2406)cCt>cTt	p.P802L	MAP3K19_ENST00000358371.4_Missense_Mutation_p.P689L|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.P819L|MAP3K19_ENST00000392918.3_Intron	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	802							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										TGAGACAGGAGGGAATTCATT	0.388																																						uc002tue.1		NA																	0				stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5						c.(2404-2406)CCT>CTT		Yeast Sps1/Ste20-related kinase 4 isoform 1							70.0	69.0	69.0					2																	135744037		2203	4300	6503	SO:0001583	missense	80122						ATP binding|protein serine/threonine kinase activity	g.chr2:135744037G>A	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.2405C>T	2.37:g.135744037G>A	ENSP00000365005:p.Pro802Leu					YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.P689L|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_Missense_Mutation_p.P530L|YSK4_uc002tui.3_Missense_Mutation_p.P819L	p.P802L	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	7	2436	-			802					B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.2405C>T	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.874971	0.00062	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915;ENST00000437365	T;T;T;T	0.69806	-0.28;-0.28;2.1;-0.43	4.87	-3.35	0.04928	.	1.381770	0.04825	N	0.437584	T	0.36799	0.0980	N	0.11064	0.09	0.21386	N	0.999706	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.17137	-1.0379	10	0.09590	T	0.72	.	1.0398	0.01556	0.3553:0.117:0.299:0.2287	.	689;819;802	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	L	802;689;819;192	ENSP00000365005:P802L;ENSP00000351140:P689L;ENSP00000376647:P819L;ENSP00000392827:P192L	ENSP00000351140:P689L	P	-	2	0	YSK4	135460507	0.055000	0.20627	0.499000	0.27577	0.058000	0.15608	0.291000	0.18994	-0.185000	0.10550	-0.379000	0.06801	CCT		0.388	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		54	56	0	0	0	0	54	56				
R3HDM1	23518	broad.mit.edu	37	2	136467633	136467633	+	Silent	SNP	A	A	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:136467633A>G	ENST00000264160.4	+	22	2833	c.2463A>G	c.(2461-2463)ggA>ggG	p.G821G	R3HDM1_ENST00000329971.3_Silent_p.G692G|R3HDM1_ENST00000410054.1_Silent_p.G766G|R3HDM1_ENST00000409606.1_Silent_p.G822G|R3HDM1_ENST00000409478.1_Silent_p.G693G	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	821							poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		TTTCAGCTGGACCACCACCGC	0.443											OREG0014997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002tuo.2		NA																	0				skin(1)	1						c.(2461-2463)GGA>GGG		R3H domain containing 1							75.0	75.0	75.0					2																	136467633		2203	4300	6503	SO:0001819	synonymous_variant	23518						nucleic acid binding	g.chr2:136467633A>G	D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing"""	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.2463A>G	2.37:g.136467633A>G			OREG0014997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1626	R3HDM1_uc010fni.2_Silent_p.G820G|R3HDM1_uc002tup.2_Silent_p.G766G|R3HDM1_uc010zbh.1_Silent_p.G569G	p.G821G	NM_015361	NP_056176	Q15032	R3HD1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.127)	22	2833	+			821					A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Silent	SNP	ENST00000264160.4	37	c.2463A>G	CCDS2177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	3.975|3.975	-0.007519|-0.007519	0.07773|0.07773	.|.	.|.	ENSG00000048991|ENSG00000048991	ENST00000445855|ENST00000429703	.|.	.|.	.|.	5.27|5.27	-5.1|-5.1	0.02911|0.02911	.|.	.|.	.|.	.|.	.|.	T|T	0.35566|0.35566	0.0936|0.0936	.|.	.|.	.|.	0.42644|0.42644	D|D	0.993424|0.993424	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.40997|0.40997	-0.9533|-0.9533	4|4	.|.	.|.	.|.	7.2726|7.2726	0.8654|0.8654	0.01202|0.01202	0.2479:0.3082:0.2368:0.2071|0.2479:0.3082:0.2368:0.2071	.|.	.|.	.|.	.|.	G|A	117|545	.|.	.|.	D|T	+|+	2|1	0|0	R3HDM1|R3HDM1	136184103|136184103	0.947000|0.947000	0.32204|0.32204	0.064000|0.064000	0.19789|0.19789	0.699000|0.699000	0.40488|0.40488	0.012000|0.012000	0.13287|0.13287	-0.578000|-0.578000	0.05959|0.05959	-1.626000|-1.626000	0.00786|0.00786	GAC|ACC		0.443	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361		40	73	0	0	0	0	40	73				
LCT	3938	broad.mit.edu	37	2	136566979	136566979	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:136566979A>T	ENST00000264162.2	-	8	2948	c.2938T>A	c.(2938-2940)Tgg>Agg	p.W980R	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	980	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	ATCCGAGACCAGGAGATAGAG	0.498																																						uc002tuu.1		NA																	0				ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13						c.(2938-2940)TGG>AGG		lactase-phlorizin hydrolase preproprotein							77.0	82.0	81.0					2																	136566979		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136566979A>T	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.2938T>A	2.37:g.136566979A>T	ENSP00000264162:p.Trp980Arg						p.W980R	NM_002299	NP_002290	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	8	2949	-			980			3.|Extracellular (Potential).|4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.2938T>A	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.085764	0.76642	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	D	0.89485	-2.52	5.78	5.78	0.91487	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.048990	0.85682	D	0.000000	D	0.96396	0.8824	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97662	1.0161	10	0.87932	D	0	-11.0657	16.1146	0.81295	1.0:0.0:0.0:0.0	.	980	P09848	LPH_HUMAN	R	980;412	ENSP00000264162:W980R	ENSP00000264162:W980R	W	-	1	0	LCT	136283449	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.339000	0.96797	2.200000	0.70718	0.460000	0.39030	TGG		0.498	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		40	50	0	0	0	0	40	50				
UPP2	151531	broad.mit.edu	37	2	158962720	158962720	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:158962720G>C	ENST00000005756.4	+	2	366	c.172G>C	c.(172-174)Gat>Cat	p.D58H	UPP2_ENST00000409859.4_Missense_Mutation_p.D115H|UPP2_ENST00000460456.1_3'UTR|UPP2_ENST00000605860.1_Missense_Mutation_p.D115H	NM_173355.3	NP_775491.1	O95045	UPP2_HUMAN	uridine phosphorylase 2	58					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)|type III intermediate filament (GO:0045098)	uridine phosphorylase activity (GO:0004850)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31					Fluorouracil(DB00544)	AATGTTTGGAGATGTAAAGGT	0.328																																						uc002tzp.2		NA																	0					0						c.(172-174)GAT>CAT		uridine phosphorylase 2 isoform a							84.0	84.0	84.0					2																	158962720		2203	4299	6502	SO:0001583	missense	151531				nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity	g.chr2:158962720G>C	AY225131	CCDS2207.1, CCDS46435.1	2q24.2	2008-02-05			ENSG00000007001	ENSG00000007001			23061	protein-coding gene	gene with protein product						12849978	Standard	NM_173355		Approved	UPASE2, UP2, UDRPASE2	uc002tzo.3	O95045	OTTHUMG00000131969	ENST00000005756.4:c.172G>C	2.37:g.158962720G>C	ENSP00000005756:p.Asp58His					UPP2_uc002tzo.2_Missense_Mutation_p.D115H	p.D58H	NM_173355	NP_775491	O95045	UPP2_HUMAN			2	366	+			58					B3KV87	Missense_Mutation	SNP	ENST00000005756.4	37	c.172G>C	CCDS2207.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.995254	0.54147	.	.	ENSG00000007001	ENST00000409859;ENST00000005756	T;T	0.55588	0.51;0.56	4.77	2.97	0.34412	.	0.053247	0.64402	D	0.000001	T	0.70815	0.3267	M	0.88570	2.965	0.58432	D	0.999999	D	0.89917	1.0	D	0.63113	0.911	T	0.73011	-0.4117	10	0.87932	D	0	.	8.8103	0.34963	0.1839:0.0:0.8161:0.0	.	58	O95045	UPP2_HUMAN	H	115;58	ENSP00000387230:D115H;ENSP00000005756:D58H	ENSP00000005756:D58H	D	+	1	0	UPP2	158670966	1.000000	0.71417	0.996000	0.52242	0.675000	0.39556	4.767000	0.62286	0.626000	0.30322	0.563000	0.77884	GAT		0.328	UPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254929.2	NM_173355		15	27	0	0	0	0	15	27				
BAZ2B	29994	broad.mit.edu	37	2	160257124	160257124	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:160257124G>A	ENST00000392783.2	-	17	3379	c.2884C>T	c.(2884-2886)Cag>Tag	p.Q962*	BAZ2B_ENST00000343439.5_Nonsense_Mutation_p.Q862*|BAZ2B_ENST00000355831.2_Nonsense_Mutation_p.Q928*|AC008277.1_ENST00000420020.1_RNA|BAZ2B_ENST00000392782.1_Nonsense_Mutation_p.Q926*|AC008277.1_ENST00000608714.1_RNA|AC008277.1_ENST00000594921.1_RNA	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	962	Lys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						AGAATTTGCTGAGCTCGAAGT	0.264																																						uc002uao.2		NA																	0				ovary(3)|skin(1)	4						c.(2884-2886)CAG>TAG		bromodomain adjacent to zinc finger domain, 2B							51.0	45.0	47.0					2																	160257124		1779	4054	5833	SO:0001587	stop_gained	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160257124G>A	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.2884C>T	2.37:g.160257124G>A	ENSP00000376534:p.Gln962*					BAZ2B_uc002uap.2_Nonsense_Mutation_p.Q926*|BAZ2B_uc002uaq.1_Nonsense_Mutation_p.Q792*	p.Q962*	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN			17	3236	-			962			Lys-rich.|Potential.		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Nonsense_Mutation	SNP	ENST00000392783.2	37	c.2884C>T	CCDS2209.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.3|25.3	4.628177|4.628177	0.87560|0.87560	.|.	.|.	ENSG00000123636|ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439|ENST00000294905	.|.	.|.	.|.	5.33|5.33	5.33|5.33	0.75918|0.75918	.|.	0.000000|.	0.35151|.	U|.	0.003413|.	.|T	.|0.75895	.|0.3912	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74973	.|-0.3481	.|3	0.39692|.	T|.	0.17|.	-7.2487|-7.2487	18.9988|18.9988	0.92824|0.92824	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	926;962;928;862|13	.|.	ENSP00000339670:Q862X|.	Q|S	-|-	1|2	0|0	BAZ2B|BAZ2B	159965370|159965370	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.996000|0.996000	0.88848|0.88848	9.354000|9.354000	0.97083|0.97083	2.465000|2.465000	0.83290|0.83290	0.585000|0.585000	0.79938|0.79938	CAG|TCA		0.264	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			11	26	0	0	0	0	11	26				
FIGN	55137	broad.mit.edu	37	2	164466811	164466811	+	Missense_Mutation	SNP	C	C	A	rs200358782		TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:164466811C>A	ENST00000333129.3	-	3	1845	c.1531G>T	c.(1531-1533)Gcg>Tcg	p.A511S	FIGN_ENST00000482917.1_5'Flank|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	511					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CCACTGAACGCGTCTGACCTC	0.532																																						uc002uck.1		NA																	0				large_intestine(2)|ovary(1)|skin(1)	4						c.(1531-1533)GCG>TCG		fidgetin							106.0	98.0	101.0					2																	164466811		2005	4184	6189	SO:0001583	missense	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164466811C>A	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.1531G>T	2.37:g.164466811C>A	ENSP00000333836:p.Ala511Ser						p.A511S	NM_018086	NP_060556	Q5HY92	FIGN_HUMAN			3	1842	-			511					B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	37	c.1531G>T	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	C	16.26	3.073228	0.55646	.	.	ENSG00000182263	ENST00000333129	D	0.95001	-3.58	5.66	5.66	0.87406	.	0.098908	0.64402	D	0.000002	D	0.95040	0.8394	L	0.35414	1.06	0.51012	D	0.999902	P	0.50272	0.933	P	0.58077	0.832	D	0.95418	0.8504	10	0.72032	D	0.01	-13.7139	19.7468	0.96255	0.0:1.0:0.0:0.0	.	511	Q5HY92	FIGN_HUMAN	S	511	ENSP00000333836:A511S	ENSP00000333836:A511S	A	-	1	0	FIGN	164175057	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	5.733000	0.68571	2.678000	0.91216	0.563000	0.77884	GCG		0.532	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		54	60	1	0	9.11e-22	1.33e-21	54	60				
SCN3A	6328	broad.mit.edu	37	2	165956828	165956828	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:165956828C>A	ENST00000360093.3	-	22	4441	c.3950G>T	c.(3949-3951)cGg>cTg	p.R1317L	SCN3A_ENST00000283254.7_Missense_Mutation_p.R1317L|SCN3A_ENST00000409101.3_Missense_Mutation_p.R1268L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1317					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCCTTCAAACCGGGATAAGGC	0.403																																						uc002ucx.2		NA																	0				ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(3949-3951)CGG>CTG		sodium channel, voltage-gated, type III, alpha	Lamotrigine(DB00555)						88.0	88.0	88.0					2																	165956828		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165956828C>A	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.3950G>T	2.37:g.165956828C>A	ENSP00000353206:p.Arg1317Leu					SCN3A_uc002ucy.2_Missense_Mutation_p.R1268L|SCN3A_uc002ucz.2_Missense_Mutation_p.R1268L|SCN3A_uc002uda.1_Missense_Mutation_p.R1137L|SCN3A_uc002udb.1_Missense_Mutation_p.R1137L	p.R1317L	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN			22	4442	-			1317			Helical; Voltage-sensor; Name=S4 of repeat III; (Potential).		Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.3950G>T		.	.	.	.	.	.	.	.	.	.	C	25.1	4.598874	0.87055	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.98512	-4.97;-4.97;-4.97;-4.97	5.35	5.35	0.76521	Ion transport (1);	0.000000	0.53938	D	0.000043	D	0.99239	0.9735	M	0.93062	3.375	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;0.996;0.996;1.0	D;D;D;D;D	0.97110	1.0;0.995;0.992;0.992;0.997	D	0.99191	1.0870	10	0.87932	D	0	.	19.4318	0.94772	0.0:1.0:0.0:0.0	.	1317;1268;1268;1268;1317	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	L	1317;1317;1268;1268	ENSP00000353206:R1317L;ENSP00000283254:R1317L;ENSP00000386726:R1268L;ENSP00000403348:R1268L	ENSP00000283254:R1317L	R	-	2	0	SCN3A	165665074	1.000000	0.71417	1.000000	0.80357	0.570000	0.35934	7.776000	0.85560	2.668000	0.90789	0.591000	0.81541	CGG		0.403	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		39	56	1	0	6.34e-27	9.58e-27	39	56				
SCRN3	79634	broad.mit.edu	37	2	175287708	175287708	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:175287708T>A	ENST00000272732.6	+	6	932	c.850T>A	c.(850-852)Tct>Act	p.S284T	SCRN3_ENST00000409673.3_Missense_Mutation_p.S277T|SCRN3_ENST00000548921.1_3'UTR	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	284							dipeptidase activity (GO:0016805)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			AAGCATGGTTTCTATTTTACC	0.408																																						uc002uiq.2		NA																	0				ovary(1)	1						c.(850-852)TCT>ACT		secernin 3							115.0	115.0	115.0					2																	175287708		2203	4300	6503	SO:0001583	missense	79634				proteolysis		dipeptidase activity	g.chr2:175287708T>A	AF279776	CCDS2258.1, CCDS54420.1	2q31	2008-02-05			ENSG00000144306	ENSG00000144306			30382	protein-coding gene	gene with protein product		614967				12221138	Standard	NM_024583		Approved	FLJ23142	uc002uiq.3	Q0VDG4	OTTHUMG00000132332	ENST00000272732.6:c.850T>A	2.37:g.175287708T>A	ENSP00000272732:p.Ser284Thr					SCRN3_uc010zen.1_Missense_Mutation_p.S277T|SCRN3_uc010zeo.1_Missense_Mutation_p.S82T|SCRN3_uc002uis.2_Missense_Mutation_p.S26T	p.S284T	NM_024583	NP_078859	Q0VDG4	SCRN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.229)		6	938	+			284					B4DI11|C9JPC1|D3DPE0|Q7L1C5|Q9H5R5	Missense_Mutation	SNP	ENST00000272732.6	37	c.850T>A	CCDS2258.1	.	.	.	.	.	.	.	.	.	.	T	29.9	5.042301	0.93685	.	.	ENSG00000144306	ENST00000409673;ENST00000272732	T;T	0.12361	2.7;2.69	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.43010	0.1228	M	0.86740	2.835	0.58432	D	0.999999	D;D	0.71674	0.998;0.997	D;D	0.77557	0.99;0.985	T	0.49978	-0.8881	10	0.59425	D	0.04	-18.2366	15.0177	0.71600	0.0:0.0:0.0:1.0	.	277;284	B4DI11;Q0VDG4	.;SCRN3_HUMAN	T	277;284	ENSP00000387142:S277T;ENSP00000272732:S284T	ENSP00000272732:S284T	S	+	1	0	SCRN3	174995954	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.798000	0.85924	1.961000	0.56991	0.459000	0.35465	TCT		0.408	SCRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255451.2	NM_024583		42	46	0	0	0	0	42	46				
TTN	7273	broad.mit.edu	37	2	179401131	179401131	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:179401131C>G	ENST00000591111.1	-	307	95644	c.95420G>C	c.(95419-95421)cGa>cCa	p.R31807P	TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R30880P|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R24575P|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R33448P|TTN_ENST00000359218.5_Missense_Mutation_p.R24508P|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R24383P|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000415561.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31807	Fibronectin type-III 131. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			GACAGTTTCTCGAATTTCTTC	0.388																																						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.(92638-92640)CGA>CCA		titin isoform N2-A							78.0	74.0	75.0					2																	179401131		1854	4103	5957	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179401131C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.95420G>C	2.37:g.179401131C>G	ENSP00000465570:p.Arg31807Pro					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R24575P|TTN_uc010zfi.1_Missense_Mutation_p.R24508P|TTN_uc010zfj.1_Missense_Mutation_p.R24383P	p.R30880P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		306	92863	-			31807					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.92639G>C		.	.	.	.	.	.	.	.	.	.	C	15.33	2.802756	0.50315	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	5.76	5.76	0.90799	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51466	0.1676	N	0.11364	0.135	0.40178	D	0.977253	D;D;D;D	0.67145	0.989;0.989;0.989;0.996	P;P;P;D	0.63488	0.879;0.879;0.879;0.915	T	0.61826	-0.6983	9	0.87932	D	0	.	19.9595	0.97236	0.0:1.0:0.0:0.0	.	24383;24508;24575;31807	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	P	30880;24383;24575;24508;24380	ENSP00000343764:R30880P;ENSP00000434586:R24383P;ENSP00000340554:R24575P;ENSP00000352154:R24508P	ENSP00000340554:R24575P	R	-	2	0	TTN	179109377	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.882000	0.28186	2.706000	0.92434	0.563000	0.77884	CGA		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		23	61	0	0	0	0	23	61				
TTN	7273	broad.mit.edu	37	2	179412806	179412806	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:179412806C>T	ENST00000591111.1	-	289	88848	c.88624G>A	c.(88624-88626)Gaa>Aaa	p.E29542K	TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E28615K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E22310K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E31183K|TTN_ENST00000359218.5_Missense_Mutation_p.E22243K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E22118K|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29542	Fibronectin type-III 115. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			ACACGGAATTCATATTCAGTT	0.453																																						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.(85843-85845)GAA>AAA		titin isoform N2-A							115.0	118.0	117.0					2																	179412806		1908	4123	6031	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179412806C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.88624G>A	2.37:g.179412806C>T	ENSP00000465570:p.Glu29542Lys					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E22310K|TTN_uc010zfi.1_Missense_Mutation_p.E22243K|TTN_uc010zfj.1_Missense_Mutation_p.E22118K	p.E28615K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		288	86067	-			29542					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.85843G>A		.	.	.	.	.	.	.	.	.	.	C	20.8	4.050666	0.75960	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	5.65	5.65	0.86999	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.58293	0.2112	N	0.17594	0.5	0.80722	D	1	D;D;D;D	0.64830	0.978;0.978;0.978;0.994	P;P;P;P	0.62298	0.829;0.829;0.829;0.9	T	0.64241	-0.6454	9	0.87932	D	0	.	19.7272	0.96168	0.0:1.0:0.0:0.0	.	22118;22243;22310;29542	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	28615;22118;22310;22243;22115	ENSP00000343764:E28615K;ENSP00000434586:E22118K;ENSP00000340554:E22310K;ENSP00000352154:E22243K	ENSP00000340554:E22310K	E	-	1	0	TTN	179121052	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.646000	0.89796	0.655000	0.94253	GAA		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		93	88	0	0	0	0	93	88				
TTN	7273	broad.mit.edu	37	2	179439363	179439363	+	Silent	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:179439363G>T	ENST00000591111.1	-	276	66797	c.66573C>A	c.(66571-66573)acC>acA	p.T22191T	TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.T21264T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Silent_p.T14959T|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000589042.1_Silent_p.T23832T|RP11-171I2.5_ENST00000604215.1_RNA|TTN_ENST00000359218.5_Silent_p.T14892T|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Silent_p.T14767T|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22191	Fibronectin type-III 61. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			TTACCTGAGGGGTACCAGGAG	0.448																																						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.(63790-63792)ACC>ACA		titin isoform N2-A							97.0	91.0	93.0					2																	179439363		1910	4151	6061	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179439363G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.66573C>A	2.37:g.179439363G>T						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.T14959T|TTN_uc010zfi.1_Silent_p.T14892T|TTN_uc010zfj.1_Silent_p.T14767T	p.T21264T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	64016	-			22191					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.63792C>A																																																																																					0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		18	87	1	0	3.52e-12	4.65e-12	18	87				
TTN	7273	broad.mit.edu	37	2	179443986	179443986	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:179443986G>C	ENST00000591111.1	-	270	63072	c.62848C>G	c.(62848-62850)Cta>Gta	p.L20950V	TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L20023V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L13718V|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L22591V|RP11-171I2.5_ENST00000604215.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L13651V|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L13526V|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20950	Ig-like 112.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAGTTGCTAGAGGATCTTCC	0.438																																						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.(60067-60069)CTA>GTA		titin isoform N2-A							100.0	98.0	98.0					2																	179443986		1942	4139	6081	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179443986G>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.62848C>G	2.37:g.179443986G>C	ENSP00000465570:p.Leu20950Val					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.L13718V|TTN_uc010zfi.1_Missense_Mutation_p.L13651V|TTN_uc010zfj.1_Missense_Mutation_p.L13526V|uc002umv.1_Missense_Mutation_p.R71T	p.L20023V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		269	60291	-			20950					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.60067C>G		.	.	.	.	.	.	.	.	.	.	G	9.724	1.160476	0.21454	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5	5.68	5.68	0.88126	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66127	0.2758	L	0.49513	1.565	0.27659	N	0.947131	B;B;B;B	0.18166	0.026;0.026;0.026;0.026	B;B;B;B	0.21917	0.037;0.037;0.037;0.037	T	0.60459	-0.7259	9	0.87932	D	0	.	10.5043	0.44823	0.0:0.179:0.6949:0.1261	.	13526;13651;13718;20950	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	20023;13526;13718;13651;13524	ENSP00000343764:L20023V;ENSP00000434586:L13526V;ENSP00000340554:L13718V;ENSP00000352154:L13651V	ENSP00000340554:L13718V	L	-	1	2	TTN	179152232	0.823000	0.29233	1.000000	0.80357	0.899000	0.52679	1.331000	0.33793	2.833000	0.97629	0.655000	0.94253	CTA		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		55	65	0	0	0	0	55	65				
TTN	7273	broad.mit.edu	37	2	179598401	179598401	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:179598401T>C	ENST00000591111.1	-	51	14988	c.14764A>G	c.(14764-14766)Acg>Gcg	p.T4922A	TTN_ENST00000342992.6_Missense_Mutation_p.T3995A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.T5239A|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12314	Ig-like 29.				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)			GCCAGGCACGTGTATTTGCCT	0.383																																						uc010zfg.1		NA																	0		p.E3995*(1)		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.(11983-11985)ACG>GCG		titin isoform N2-A							141.0	134.0	136.0					2																	179598401		1864	4099	5963	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179598401T>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.14764A>G	2.37:g.179598401T>C	ENSP00000465570:p.Thr4922Ala					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T656A	p.T3995A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		50	12207	-			4922					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.11983A>G		.	.	.	.	.	.	.	.	.	.	T	13.38	2.219078	0.39201	.	.	ENSG00000155657	ENST00000342992	T	0.49139	0.79	5.79	5.79	0.91817	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67088	0.2856	M	0.92738	3.34	0.80722	D	1	P	0.44195	0.828	P	0.47251	0.542	T	0.76427	-0.2963	9	0.87932	D	0	.	16.1329	0.81458	0.0:0.0:0.0:1.0	.	4922	Q8WZ42	TITIN_HUMAN	A	3995	ENSP00000343764:T3995A	ENSP00000343764:T3995A	T	-	1	0	TTN	179306646	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.863000	0.48396	2.208000	0.71279	0.533000	0.62120	ACG		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		48	119	0	0	0	0	48	119				
TTN	7273	broad.mit.edu	37	2	179610817	179610817	+	Intron	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:179610817G>T	ENST00000591111.1	-	46	10585				TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.T5437N|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA			Q8WZ42	TITIN_HUMAN	titin						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)			AATTTTAAGAGTGTGACTTCC	0.418																																						uc002unb.2		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.(16309-16311)ACT>AAT		titin isoform novex-3							127.0	130.0	129.0					2																	179610817		2203	4300	6503	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179610817G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10361-4169C>A	2.37:g.179610817G>T						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.T5437N	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	16534	-			8944					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.16310C>A		.	.	.	.	.	.	.	.	.	.	G	13.59	2.281350	0.40394	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.70516	-0.49	6.07	2.49	0.30216	.	.	.	.	.	T	0.64193	0.2576	L	0.46947	1.48	0.80722	D	1	B	0.27416	0.178	B	0.28139	0.086	T	0.59085	-0.7520	9	0.49607	T	0.09	.	13.6892	0.62535	0.0693:0.6194:0.3113:0.0	.	5437	Q8WZ42-6	.	N	5437;718	ENSP00000354117:T5437N	ENSP00000304714:T718N	T	-	2	0	TTN	179319062	0.978000	0.34361	0.998000	0.56505	0.776000	0.43924	1.091000	0.30915	0.170000	0.19704	0.655000	0.94253	ACT		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		96	101	1	0	5.72e-57	8.95e-57	96	101				
TTN	7273	broad.mit.edu	37	2	179613353	179613353	+	Intron	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:179613353C>T	ENST00000591111.1	-	45	10585				TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.E4592K|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA			Q8WZ42	TITIN_HUMAN	titin						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)			CTATCTAATTCTTGGAATTTC	0.318																																						uc002unb.2		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.(13774-13776)GAA>AAA		titin isoform novex-3							125.0	134.0	131.0					2																	179613353		2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179613353C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+4497G>A	2.37:g.179613353C>T						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.E4592K	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	13998	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.13774G>A		.	.	.	.	.	.	.	.	.	.	C	19.08	3.758903	0.69763	.	.	ENSG00000155657	ENST00000360870	T	0.62105	0.05	6.01	5.13	0.70059	.	.	.	.	.	T	0.51058	0.1652	L	0.27053	0.805	0.80722	D	1	B	0.10296	0.003	B	0.12156	0.007	T	0.43572	-0.9383	9	0.40728	T	0.16	.	15.5687	0.76317	0.0:0.9335:0.0:0.0665	.	4592	Q8WZ42-6	.	K	4592	ENSP00000354117:E4592K	ENSP00000354117:E4592K	E	-	1	0	TTN	179321598	0.997000	0.39634	0.469000	0.27204	0.742000	0.42306	2.019000	0.41001	1.533000	0.49186	0.650000	0.86243	GAA		0.318	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	234	0	0	0	0	11	234				
SSFA2	6744	broad.mit.edu	37	2	182779977	182779977	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:182779977C>T	ENST00000431877.2	+	11	1789	c.1610C>T	c.(1609-1611)gCt>gTt	p.A537V	SSFA2_ENST00000409001.1_Missense_Mutation_p.A537V|SSFA2_ENST00000428267.2_Missense_Mutation_p.A384V|SSFA2_ENST00000409136.1_Missense_Mutation_p.A46V|SSFA2_ENST00000320370.7_Missense_Mutation_p.A537V	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	537						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			GGGAGTAGTGCTGATAGTTGT	0.423																																						uc002uoi.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(1609-1611)GCT>GTT		sperm specific antigen 2 isoform 1							121.0	113.0	116.0					2																	182779977		2203	4300	6503	SO:0001583	missense	6744					cytoplasm|plasma membrane	actin binding	g.chr2:182779977C>T	M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"""cleavage signal-1 protein"", ""KRAS-induced actin-interacting protein"", ""sperm associated antigen 13"""	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.1610C>T	2.37:g.182779977C>T	ENSP00000388731:p.Ala537Val					SSFA2_uc002uoh.2_Missense_Mutation_p.A537V|SSFA2_uc002uoj.2_Missense_Mutation_p.A537V|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_Missense_Mutation_p.A384V|SSFA2_uc002uol.2_Missense_Mutation_p.A384V|SSFA2_uc002uom.2_Missense_Mutation_p.A5V	p.A537V	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0856)		11	1932	+			537					A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	ENST00000431877.2	37	c.1610C>T	CCDS46467.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.738642	0.89573	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267;ENST00000409136	T;T;T;T;T	0.23754	2.14;1.89;2.12;2.14;2.02	5.81	5.81	0.92471	.	0.421904	0.25759	N	0.028495	T	0.55162	0.1903	M	0.73598	2.24	0.58432	D	0.999993	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.997;0.997;0.997;0.997	T	0.55263	-0.8168	10	0.72032	D	0.01	-17.3986	20.0734	0.97734	0.0:1.0:0.0:0.0	.	384;46;537;537;537	E7END2;E7EUL7;E9PHV5;P28290;P28290-3	.;.;.;SSFA2_HUMAN;.	V	537;537;537;384;46	ENSP00000388731:A537V;ENSP00000314669:A537V;ENSP00000387319:A537V;ENSP00000409867:A384V;ENSP00000386916:A46V	ENSP00000314669:A537V	A	+	2	0	SSFA2	182488222	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.883000	0.63128	2.751000	0.94390	0.555000	0.69702	GCT		0.423	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	NM_006751		66	82	0	0	0	0	66	82				
COL5A2	1290	broad.mit.edu	37	2	189918902	189918902	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:189918902C>A	ENST00000374866.3	-	36	2702	c.2428G>T	c.(2428-2430)Ggt>Tgt	p.G810C		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	810					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCAGTAGGACCTGCCGGACCT	0.393																																						uc002uqk.2		NA																	0				ovary(2)	2						c.(2428-2430)GGT>TGT		alpha 2 type V collagen preproprotein							76.0	77.0	77.0					2																	189918902		2203	4300	6503	SO:0001583	missense	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189918902C>A	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.2428G>T	2.37:g.189918902C>A	ENSP00000364000:p.Gly810Cys					COL5A2_uc010frx.2_Missense_Mutation_p.G386C	p.G810C	NM_000393	NP_000384	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		36	2703	-			810					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	c.2428G>T	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.097886	0.76870	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.99637	-6.29	6.03	6.03	0.97812	.	0.000000	0.50627	D	0.000112	D	0.99816	0.9919	H	0.97023	3.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97217	0.9875	9	.	.	.	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	450;810	Q5PR22;P05997	.;CO5A2_HUMAN	C	810;450	ENSP00000364000:G810C	.	G	-	1	0	COL5A2	189627147	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.273000	0.78527	2.861000	0.98227	0.655000	0.94253	GGT		0.393	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		55	71	1	0	3.64e-18	5.12e-18	55	71				
DNAH7	56171	broad.mit.edu	37	2	196825030	196825030	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:196825030T>C	ENST00000312428.6	-	18	2945	c.2845A>G	c.(2845-2847)Act>Gct	p.T949A		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	949	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CCTCGCATAGTTTGTGTTTTA	0.323																																						uc002utj.3		NA																	0				skin(10)|ovary(2)	12						c.(2845-2847)ACT>GCT		dynein, axonemal, heavy chain 7							112.0	111.0	111.0					2																	196825030		1844	4091	5935	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196825030T>C	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.2845A>G	2.37:g.196825030T>C	ENSP00000311273:p.Thr949Ala						p.T949A	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			18	2946	-			949			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.2845A>G	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.203999	0.79127	.	.	ENSG00000118997	ENST00000312428	T	0.61742	0.08	5.64	5.64	0.86602	Dynein heavy chain, domain-2 (1);	0.000000	0.85682	D	0.000000	T	0.74336	0.3703	M	0.70842	2.15	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.72924	-0.4144	10	0.32370	T	0.25	.	15.8646	0.79055	0.0:0.0:0.0:1.0	.	949	Q8WXX0	DYH7_HUMAN	A	949	ENSP00000311273:T949A	ENSP00000311273:T949A	T	-	1	0	DNAH7	196533275	1.000000	0.71417	0.994000	0.49952	0.953000	0.61014	8.040000	0.89188	2.149000	0.67028	0.477000	0.44152	ACT		0.323	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		11	157	0	0	0	0	11	157				
CYP27A1	1593	broad.mit.edu	37	2	219677074	219677074	+	Silent	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:219677074G>T	ENST00000258415.4	+	3	1003	c.576G>T	c.(574-576)ctG>ctT	p.L192L		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	192					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	cholestanetriol 26-monooxygenase activity (GO:0047749)|cholesterol 26-hydroxylase activity (GO:0031073)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Chenodeoxycholic acid(DB06777)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Pegvisomant(DB00082)	TGGACCAGCTGCGGGCAGAGA	0.557																																						uc002viz.3		NA																	0				ovary(1)	1						c.(574-576)CTG>CTT		cytochrome P450, family 27, subfamily A,	Cholecalciferol(DB00169)						173.0	182.0	179.0					2																	219677074		2203	4300	6503	SO:0001819	synonymous_variant	1593				bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding	g.chr2:219677074G>T	BC017044	CCDS2423.1	2q35	2013-09-19	2003-01-14		ENSG00000135929	ENSG00000135929		"""Cytochrome P450s"""	2605	protein-coding gene	gene with protein product	"""cerebrotendinous xanthomatosis"""	606530	"""cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1"""	CYP27		2019602	Standard	NM_000784		Approved	CTX, CP27	uc002viz.4	Q02318	OTTHUMG00000048238	ENST00000258415.4:c.576G>T	2.37:g.219677074G>T							p.L192L	NM_000784	NP_000775	Q02318	CP27A_HUMAN		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	3	1010	+		Renal(207;0.0474)	192					A8K303|Q6LDB4|Q86YQ6	Silent	SNP	ENST00000258415.4	37	c.576G>T	CCDS2423.1																																																																																				0.557	CYP27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109734.4			11	173	1	0	1.09e-07	1.31e-07	11	173				
SP140L	93349	broad.mit.edu	37	2	231248247	231248247	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:231248247G>T	ENST00000415673.2	+	8	746	c.660G>T	c.(658-660)tgG>tgT	p.W220C	SP140L_ENST00000444636.1_Missense_Mutation_p.W220C|SP140L_ENST00000243810.6_Missense_Mutation_p.W220C|SP140L_ENST00000396563.4_Missense_Mutation_p.W220C	NM_138402.4	NP_612411.4	Q9H930	SP14L_HUMAN	SP140 nuclear body protein-like	220						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						GGCATGGCTGGAGCAGAATGG	0.358																																						uc010fxm.1		NA																	0				central_nervous_system(1)	1						c.(658-660)TGG>TGT		SP140 nuclear body protein-like							93.0	98.0	96.0					2																	231248247		1870	4104	5974	SO:0001583	missense	93349					nucleus	DNA binding|metal ion binding	g.chr2:231248247G>T	BC004921	CCDS46538.1	2q37.1	2013-01-28			ENSG00000185404	ENSG00000185404		"""Zinc fingers, PHD-type"""	25105	protein-coding gene	gene with protein product						12477932	Standard	NM_138402		Approved		uc010fxm.1	Q9H930	OTTHUMG00000153730	ENST00000415673.2:c.660G>T	2.37:g.231248247G>T	ENSP00000397911:p.Trp220Cys					SP140L_uc010fxo.1_Missense_Mutation_p.W27C	p.W220C	NM_138402	NP_612411	Q9H930	LY10L_HUMAN			8	751	+			220					Q2M375|Q4ZG65|Q9BSP3	Missense_Mutation	SNP	ENST00000415673.2	37	c.660G>T	CCDS46538.1	.	.	.	.	.	.	.	.	.	.	G	8.479	0.859350	0.17178	.	.	ENSG00000185404	ENST00000444636;ENST00000415673;ENST00000243810;ENST00000396563	D;T;D;D	0.84730	-1.64;-1.27;-1.64;-1.89	2.4	0.547	0.17202	.	.	.	.	.	D	0.87478	0.6187	L	0.59436	1.845	0.09310	N	0.999999	D;D	0.89917	0.999;1.0	D;D	0.74348	0.947;0.983	T	0.74725	-0.3568	9	0.36615	T	0.2	.	4.7082	0.12860	0.3214:0.0:0.6786:0.0	.	220;220	Q9H930-2;Q9H930-4	.;.	C	220	ENSP00000395195:W220C;ENSP00000397911:W220C;ENSP00000243810:W220C;ENSP00000379811:W220C	ENSP00000243810:W220C	W	+	3	0	SP140L	230956491	0.110000	0.22057	0.009000	0.14445	0.032000	0.12392	1.543000	0.36147	0.115000	0.18071	0.591000	0.81541	TGG		0.358	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374538.1	NM_138402		8	15	1	0	2.18e-05	2.47e-05	8	15				
ECEL1	9427	broad.mit.edu	37	2	233349955	233349956	+	Missense_Mutation	DNP	AG	AG	TT			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:233349955_233349956AG>TT	ENST00000304546.1	-	3	1018_1019	c.808_809CT>AA	c.(808-810)CTg>AAg	p.L270K	ECEL1_ENST00000409941.1_Missense_Mutation_p.L270K	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	270					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CCTCTCTGGCAGGGTGAGCCCA	0.634																																						uc002vsv.2		NA																	0				central_nervous_system(2)	2						c.(808-810)CTG>AAG		endothelin converting enzyme-like 1																																				SO:0001583	missense	9427				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity	g.chr2:233349955_233349956AG>TT	Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"""damage induced neuronal endopeptidase"""	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.808_809delinsTT	2.37:g.233349955_233349956delinsTT	ENSP00000302051:p.Leu270Lys					ECEL1_uc010fya.1_Missense_Mutation_p.L270K|ECEL1_uc010fyb.1_5'UTR	p.L270K	NM_004826	NP_004817	O95672	ECEL1_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)	3	1013_1014	-		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	270			Lumenal (Potential).		Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Missense_Mutation	DNP	ENST00000304546.1	37	c.808_809CT>AA	CCDS2493.1																																																																																				0.634	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257039.2	NM_004826		15	5	0	0	0	0	15	5				
KIF1A	547	broad.mit.edu	37	2	241661290	241661290	+	Silent	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:241661290C>T	ENST00000320389.7	-	42	4532	c.4374G>A	c.(4372-4374)ctG>ctA	p.L1458L	KIF1A_ENST00000498729.2_Silent_p.L1559L	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1458					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TGTGCGTGAGCAGGCGCAAGC	0.657																																						uc002vzy.2		NA																	0				lung(1)	1						c.(4372-4374)CTG>CTA		axonal transport of synaptic vesicles							69.0	75.0	73.0					2																	241661290		2146	4241	6387	SO:0001819	synonymous_variant	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241661290C>T	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.4374G>A	2.37:g.241661290C>T						KIF1A_uc010fzk.2_Silent_p.L1559L|KIF1A_uc002vzw.2_Silent_p.L119L|KIF1A_uc002vzx.2_Silent_p.L185L	p.L1458L	NM_004321	NP_004312	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	42	4520	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	1458					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Silent	SNP	ENST00000320389.7	37	c.4374G>A	CCDS46561.1																																																																																				0.657	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		6	2	0	0	0	0	6	2				
RSPO4	343637	broad.mit.edu	37	20	947818	947818	+	Splice_Site	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr20:947818C>T	ENST00000217260.4	-	3	504	c.408G>A	c.(406-408)caG>caA	p.Q136Q	RSPO4_ENST00000400634.2_Splice_Site_p.Q136Q	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN	R-spondin 4	136					Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)	heparin binding (GO:0008201)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						CCCACTCACCCTGGCACTCCC	0.627																																						uc002wej.2		NA																	0					0						c.(406-408)CAG>CAA		R-spondin family, member 4 isoform 1 precursor							30.0	31.0	30.0					20																	947818		1935	4121	6056	SO:0001630	splice_region_variant	343637				Wnt receptor signaling pathway	extracellular region	heparin binding	g.chr20:947818C>T	AK122609	CCDS42845.1, CCDS42846.1	20p13	2014-01-30	2011-06-29	2005-08-08	ENSG00000101282	ENSG00000101282		"""Endogenous ligands"""	16175	protein-coding gene	gene with protein product		610573	"""chromosome 20 open reading frame 182"", ""R-spondin family, member 4"""	C20orf182		15469841	Standard	NM_001029871		Approved	dJ824F16.3	uc002wej.3	Q2I0M5	OTTHUMG00000031651	ENST00000217260.4:c.409+1G>A	20.37:g.947818C>T						RSPO4_uc002wek.2_Silent_p.Q136Q	p.Q136Q	NM_001029871	NP_001025042	Q2I0M5	RSPO4_HUMAN			3	505	-			136					A2A2I6|Q9UGB2	Silent	SNP	ENST00000217260.4	37	c.408G>A	CCDS42846.1																																																																																				0.627	RSPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077492.3	XM_297816	Silent	6	29	0	0	0	0	6	29				
PSMF1	9491	broad.mit.edu	37	20	1144966	1144966	+	Missense_Mutation	SNP	C	C	T	rs371970750		TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr20:1144966C>T	ENST00000335877.6	+	6	786	c.610C>T	c.(610-612)Cgg>Tgg	p.R204W	PSMF1_ENST00000381898.4_Missense_Mutation_p.R116W|PSMF1_ENST00000438768.2_Missense_Mutation_p.R142W|PSMF1_ENST00000333082.3_Missense_Mutation_p.R204W|PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000246015.4_Missense_Mutation_p.R204W	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	204	Pro-rich.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteasomal protein catabolic process (GO:1901799)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome core complex (GO:0005839)	endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						CCTCAGGCCTCGGAGAGGTGG	0.552																																						uc002wel.3		NA																	0					0						c.(610-612)CGG>TGG		proteasome inhibitor subunit 1		C	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	225.0	233.0	230.0		610,610	5.9	1.0	20		230	0,8600		0,0,4300	no	missense,missense	PSMF1	NM_006814.3,NM_178578.2	101,101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	204/272,204/272	1144966	1,13005	2203	4300	6503	SO:0001583	missense	9491				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome core complex	endopeptidase inhibitor activity|protein binding	g.chr20:1144966C>T	D88378	CCDS13010.1	20p13	2008-07-02			ENSG00000125818	ENSG00000125818		"""Proteasome (prosome, macropain) subunits"""	9571	protein-coding gene	gene with protein product	"""proteasome inhibitor hP131 subunit"""					10363639	Standard	NM_006814		Approved	PI31	uc002wen.4	Q92530	OTTHUMG00000031656	ENST00000335877.6:c.610C>T	20.37:g.1144966C>T	ENSP00000338039:p.Arg204Trp					PSMF1_uc010zpo.1_Missense_Mutation_p.R116W|PSMF1_uc002wem.3_Missense_Mutation_p.R204W|PSMF1_uc010zpp.1_Missense_Mutation_p.R142W|PSMF1_uc002wen.3_Missense_Mutation_p.R204W|PSMF1_uc002wep.3_Missense_Mutation_p.R155W	p.R204W	NM_178578	NP_848693	Q92530	PSMF1_HUMAN			7	778	+			204			Pro-rich.		A0AVQ9|D3DVW3|Q9H4I1	Missense_Mutation	SNP	ENST00000335877.6	37	c.610C>T	CCDS13010.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.80|17.80	3.477537|3.477537	0.63849|0.63849	2.27E-4|2.27E-4	0.0|0.0	ENSG00000125818|ENSG00000125818	ENST00000333082;ENST00000381898;ENST00000454500;ENST00000246015;ENST00000335877;ENST00000438768|ENST00000435720	T;T;T;T;T|.	0.48836|.	1.45;0.8;1.45;1.45;0.85|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.135451|.	0.49916|.	D|.	0.000136|.	T|T	0.70116|0.70116	0.3187|0.3187	L|L	0.50333|0.50333	1.59|1.59	0.43347|0.43347	D|D	0.995403|0.995403	D;D;D;D;D|.	0.76494|.	0.998;0.998;0.999;0.998;0.998|.	P;P;P;P;P|.	0.60609|.	0.828;0.736;0.877;0.828;0.745|.	T|T	0.64939|0.64939	-0.6289|-0.6289	10|5	0.66056|.	D|.	0.02|.	-3.1599|-3.1599	18.1736|18.1736	0.89754|0.89754	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	142;116;116;204;204|.	E7ER20;F5H4Z3;B4DUJ0;Q5QPM7;Q92530|.	.;.;.;.;PSMF1_HUMAN|.	W|L	204;116;98;204;204;142|45	ENSP00000327704:R204W;ENSP00000371323:R116W;ENSP00000246015:R204W;ENSP00000338039:R204W;ENSP00000401404:R142W|.	ENSP00000246015:R204W|.	R|S	+|+	1|2	2|0	PSMF1|PSMF1	1092966|1092966	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.376000|0.376000	0.30014|0.30014	2.633000|2.633000	0.46519|0.46519	2.825000|2.825000	0.97269|0.97269	0.655000|0.655000	0.94253|0.94253	CGG|TCG		0.552	PSMF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077504.2	NM_178578		209	236	0	0	0	0	209	236				
BMP2	650	broad.mit.edu	37	20	6759467	6759467	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr20:6759467G>A	ENST00000378827.4	+	3	2141	c.922G>A	c.(922-924)Gtg>Atg	p.V308M		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	308					activation of MAPK activity (GO:0000187)|atrioventricular valve morphogenesis (GO:0003181)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|bone mineralization (GO:0030282)|bone mineralization involved in bone maturation (GO:0035630)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiocyte differentiation (GO:0035051)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to BMP stimulus (GO:0071773)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation (GO:0002062)|corticotropin hormone secreting cell differentiation (GO:0060128)|embryo development (GO:0009790)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion morphogenesis (GO:0003203)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|inner ear development (GO:0048839)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchyme development (GO:0060485)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of calcium-independent cell-cell adhesion (GO:0051042)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of steroid biosynthetic process (GO:0010894)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|pericardium development (GO:0060039)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of odontogenesis (GO:0042482)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of Wnt signaling pathway by BMP signaling pathway (GO:0060804)|protein destabilization (GO:0031648)|protein phosphorylation (GO:0006468)|proteoglycan metabolic process (GO:0006029)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	BMP receptor binding (GO:0070700)|phosphatase activator activity (GO:0019211)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)|retinol dehydrogenase activity (GO:0004745)|SMAD binding (GO:0046332)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13						CTTCAGTGACGTGGGGTGGAA	0.507																																						uc002wmu.1		NA																	0				ovary(1)|breast(1)	2						c.(922-924)GTG>ATG		bone morphogenetic protein 2 preproprotein	Simvastatin(DB00641)						152.0	130.0	138.0					20																	6759467		2203	4300	6503	SO:0001583	missense	650				BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding	g.chr20:6759467G>A		CCDS13099.1	20p12	2014-01-30			ENSG00000125845	ENSG00000125845		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1069	protein-coding gene	gene with protein product		112261		BMP2A		2376592	Standard	NM_001200		Approved		uc002wmu.1	P12643	OTTHUMG00000031833	ENST00000378827.4:c.922G>A	20.37:g.6759467G>A	ENSP00000368104:p.Val308Met						p.V308M	NM_001200	NP_001191	P12643	BMP2_HUMAN			3	1707	+			308						Missense_Mutation	SNP	ENST00000378827.4	37	c.922G>A	CCDS13099.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.999660	0.74818	.	.	ENSG00000125845	ENST00000378827	D	0.85702	-2.02	5.5	5.5	0.81552	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.92024	0.7473	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92255	0.5812	10	0.87932	D	0	.	19.7572	0.96298	0.0:0.0:1.0:0.0	.	308	P12643	BMP2_HUMAN	M	308	ENSP00000368104:V308M	ENSP00000368104:V308M	V	+	1	0	BMP2	6707467	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.813000	0.99286	2.740000	0.93945	0.650000	0.86243	GTG		0.507	BMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077918.3			26	87	0	0	0	0	26	87				
PLCB1	23236	broad.mit.edu	37	20	8609052	8609052	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr20:8609052G>T	ENST00000338037.6	+	4	385	c.358G>T	c.(358-360)Gtg>Ttg	p.V120L	PLCB1_ENST00000378641.3_Missense_Mutation_p.V120L|PLCB1_ENST00000378637.2_Missense_Mutation_p.V120L	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	120					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TTTGAATCTCGTGGCTTTCCA	0.478																																						uc002wnb.2		NA																	0				ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						c.(358-360)GTG>TTG		phosphoinositide-specific phospholipase C beta 1							131.0	116.0	121.0					20																	8609052		2203	4300	6503	SO:0001583	missense	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8609052G>T	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.358G>T	20.37:g.8609052G>T	ENSP00000338185:p.Val120Leu					PLCB1_uc010zrb.1_Missense_Mutation_p.V19L|PLCB1_uc010gbv.1_Missense_Mutation_p.V120L|PLCB1_uc002wmz.1_Missense_Mutation_p.V120L|PLCB1_uc002wna.2_Missense_Mutation_p.V120L|PLCB1_uc002wnc.1_Missense_Mutation_p.V19L	p.V120L	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN			4	361	+			120					D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	c.358G>T	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.353873	0.61293	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000404098;ENST00000441163;ENST00000535719	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	6.17	6.17	0.99709	.	0.092218	0.85682	D	0.000000	T	0.62913	0.2467	M	0.73962	2.25	0.41884	D	0.99033	B;B;B;P	0.51147	0.191;0.004;0.239;0.942	B;B;B;P	0.51415	0.059;0.006;0.118;0.669	T	0.62153	-0.6914	10	0.48119	T	0.1	.	19.6509	0.95805	0.0:0.0:1.0:0.0	.	19;120;120;119	B4DRC6;Q9NQ66;Q9NQ66-2;B1AK73	.;PLCB1_HUMAN;.;.	L	120;120;120;119;40;40	ENSP00000367908:V120L;ENSP00000338185:V120L;ENSP00000367904:V120L;ENSP00000384001:V119L	ENSP00000338185:V120L	V	+	1	0	PLCB1	8557052	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	5.373000	0.66162	2.941000	0.99782	0.655000	0.94253	GTG		0.478	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			30	67	1	0	8.17e-17	1.14e-16	30	67				
SNRPB2	6629	broad.mit.edu	37	20	16719498	16719498	+	Splice_Site	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr20:16719498G>A	ENST00000246071.6	+	5	596	c.380G>A	c.(379-381)gGa>gAa	p.G127E	SNRPB2_ENST00000377943.5_Splice_Site_p.G127E	NM_003092.4	NP_003083.1	P08579	RU2B_HUMAN	small nuclear ribonucleoprotein polypeptide B	127					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2 snRNP (GO:0005686)	nucleotide binding (GO:0000166)|snRNA binding (GO:0017069)			large_intestine(2)|lung(2)|urinary_tract(1)	5						TTTGCTTAGGGAACTCCAAAT	0.299																																						uc002wph.1		NA																	0				large_intestine(1)	1						c.(379-381)GGA>GAA		small nuclear ribonucleoprotein polypeptide B''							65.0	66.0	66.0					20																	16719498		2202	4299	6501	SO:0001630	splice_region_variant	6629					catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	nucleotide binding|protein binding|RNA binding	g.chr20:16719498G>A		CCDS13123.1	20p12.1	2013-02-12	2010-07-07		ENSG00000125870	ENSG00000125870		"""RNA binding motif (RRM) containing"""	11155	protein-coding gene	gene with protein product		603520	"""small nuclear ribonucleoprotein polypeptide B2"", ""small nuclear ribonucleoprotein polypeptide B''"""			2951739	Standard	NM_198220		Approved	Msl1	uc002wpi.2	P08579	OTTHUMG00000031933	ENST00000246071.6:c.379-1G>A	20.37:g.16719498G>A						SNRPB2_uc002wpi.1_Missense_Mutation_p.G127E	p.G127E	NM_003092	NP_003083	P08579	RU2B_HUMAN			5	596	+			127					B2R7J3|D3DW21|Q9UJD4	Missense_Mutation	SNP	ENST00000246071.6	37	c.380G>A	CCDS13123.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.171861	0.38315	.	.	ENSG00000125870	ENST00000377943;ENST00000246071	T;T	0.44482	0.92;0.92	5.52	3.41	0.39046	.	0.306076	0.34700	N	0.003747	T	0.33818	0.0876	L	0.57536	1.79	0.46542	D	0.99909	B	0.13145	0.007	B	0.08055	0.003	T	0.12319	-1.0552	10	0.07990	T	0.79	-7.0651	11.0707	0.48002	0.0:0.13:0.7165:0.1534	.	127	P08579	RU2B_HUMAN	E	127	ENSP00000367178:G127E;ENSP00000246071:G127E	ENSP00000246071:G127E	G	+	2	0	SNRPB2	16667498	0.999000	0.42202	0.998000	0.56505	0.881000	0.50899	1.239000	0.32719	1.386000	0.46466	0.591000	0.81541	GGA		0.299	SNRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078110.1	NM_003092	Missense_Mutation	7	22	0	0	0	0	7	22				
PAX1	5075	broad.mit.edu	37	20	21687098	21687098	+	Silent	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr20:21687098C>T	ENST00000398485.2	+	2	363	c.309C>T	c.(307-309)aaC>aaT	p.N103N	PAX1_ENST00000460221.1_Intron|PAX1_ENST00000444366.2_Silent_p.N79N	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	103	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						GCGAGGTGAACCAGCTGGGCG	0.662																																						uc002wsj.2		NA																	0				upper_aerodigestive_tract(1)|kidney(1)	2						c.(307-309)AAC>AAT		paired box 1							36.0	40.0	39.0					20																	21687098		2203	4299	6502	SO:0001819	synonymous_variant	5075				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr20:21687098C>T		CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"""Paired boxes"""	8615	protein-coding gene	gene with protein product		167411	"""paired box gene 1"""			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.309C>T	20.37:g.21687098C>T						PAX1_uc010zsl.1_Silent_p.N103N|PAX1_uc010zsm.1_Silent_p.N79N	p.N103N	NM_006192	NP_006183	P15863	PAX1_HUMAN			2	363	+			103			Paired.		B4E0D6|Q642X9|Q6NTC0|Q9Y558	Silent	SNP	ENST00000398485.2	37	c.309C>T	CCDS13146.2																																																																																				0.662	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078282.3			23	76	0	0	0	0	23	76				
MYLK2	85366	broad.mit.edu	37	20	30408307	30408307	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr20:30408307C>T	ENST00000375994.2	+	2	704	c.431C>T	c.(430-432)cCt>cTt	p.P144L	MYLK2_ENST00000375985.4_Missense_Mutation_p.P144L			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	144			P -> A (in dbSNP:rs34396614). {ECO:0000269|PubMed:17344846}.		cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGGGGCTCACCTGCCTTTCTG	0.637																																						uc002wwq.2		NA																	0				lung(2)|skin(2)|ovary(1)|central_nervous_system(1)	6						c.(430-432)CCT>CTT		skeletal myosin light chain kinase							40.0	39.0	39.0					20																	30408307		2203	4299	6502	SO:0001583	missense	85366				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr20:30408307C>T	AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"""skeletal muscle myosin light chain kinase"""	606566	"""myosin light chain kinase 2, skeletal muscle"""				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.431C>T	20.37:g.30408307C>T	ENSP00000365162:p.Pro144Leu						p.P144L	NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		3	533	+			144					Q569L1|Q96I84	Missense_Mutation	SNP	ENST00000375994.2	37	c.431C>T	CCDS13191.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.512169	0.64522	.	.	ENSG00000101306	ENST00000375994;ENST00000375985	T;T	0.69306	-0.39;-0.39	4.7	4.7	0.59300	.	.	.	.	.	T	0.73814	0.3635	L	0.36672	1.1	0.24464	N	0.994425	D	0.89917	1.0	D	0.85130	0.997	T	0.64032	-0.6502	9	0.46703	T	0.11	.	13.0142	0.58746	0.0:1.0:0.0:0.0	.	144	Q9H1R3	MYLK2_HUMAN	L	144	ENSP00000365162:P144L;ENSP00000365152:P144L	ENSP00000365152:P144L	P	+	2	0	MYLK2	29871968	0.071000	0.21146	0.138000	0.22173	0.854000	0.48673	4.014000	0.57145	2.435000	0.82474	0.561000	0.74099	CCT		0.637	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078583.2	NM_033118		39	40	0	0	0	0	39	40				
ZNF341	84905	broad.mit.edu	37	20	32378871	32378871	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr20:32378871C>T	ENST00000375200.1	+	15	2478	c.2113C>T	c.(2113-2115)Cac>Tac	p.H705Y	RP4-553F4.6_ENST00000443171.1_RNA|RP4-553F4.6_ENST00000439444.1_RNA|RP4-553F4.6_ENST00000423074.1_RNA|ZNF341_ENST00000342427.2_Missense_Mutation_p.H698Y	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	705					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)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						TCAGCGCGCCCACACGGGCAA	0.612																																						uc002wzy.2		NA																	0				ovary(2)	2						c.(2113-2115)CAC>TAC		zinc finger protein 341							37.0	37.0	37.0					20																	32378871		2203	4300	6503	SO:0001583	missense	84905				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:32378871C>T	AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"""Zinc fingers, C2H2-type"""	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.2113C>T	20.37:g.32378871C>T	ENSP00000364346:p.His705Tyr					ZNF341_uc002wzx.2_Missense_Mutation_p.H698Y|ZNF341_uc010geq.2_Missense_Mutation_p.H615Y|ZNF341_uc010ger.2_RNA|ZNF341_uc002wzz.2_Missense_Mutation_p.H132Y	p.H705Y	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN			15	2133	+			705			C2H2-type 12.		A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Missense_Mutation	SNP	ENST00000375200.1	37	c.2113C>T		.	.	.	.	.	.	.	.	.	.	C	26.8	4.769202	0.90020	.	.	ENSG00000131061	ENST00000342427;ENST00000375200	T;T	0.70749	-0.51;-0.51	4.76	4.76	0.60689	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.112873	0.64402	D	0.000018	D	0.87954	0.6308	H	0.96175	3.78	0.58432	D	0.999997	D;D;D;D	0.69078	0.983;0.997;0.983;0.978	P;P;P;P	0.59424	0.685;0.857;0.685;0.557	D	0.92288	0.5839	10	0.87932	D	0	-10.6908	18.1284	0.89593	0.0:1.0:0.0:0.0	.	646;557;705;698	Q504V9;B3KU97;Q9BYN7;Q9BYN7-2	.;.;ZN341_HUMAN;.	Y	698;705	ENSP00000344308:H698Y;ENSP00000364346:H705Y	ENSP00000344308:H698Y	H	+	1	0	ZNF341	31842532	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.400000	0.79949	2.368000	0.80403	0.491000	0.48974	CAC		0.612	ZNF341-201	KNOWN	basic	protein_coding	protein_coding				17	44	0	0	0	0	17	44				
NCOA6	23054	broad.mit.edu	37	20	33337564	33337564	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr20:33337564C>A	ENST00000374796.2	-	10	5004	c.2434G>T	c.(2434-2436)Gtc>Ttc	p.V812F	NCOA6_ENST00000359003.2_Missense_Mutation_p.V812F			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	812	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|NCOA6IP-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GATAAACTGACATCGTTATTT	0.542																																						uc002xav.2		NA																	0				ovary(3)|breast(3)|central_nervous_system(1)	7						c.(2434-2436)GTC>TTC		nuclear receptor coactivator 6							103.0	88.0	93.0					20																	33337564		2203	4300	6503	SO:0001583	missense	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33337564C>A	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.2434G>T	20.37:g.33337564C>A	ENSP00000363929:p.Val812Phe					NCOA6_uc002xaw.2_Missense_Mutation_p.V812F	p.V812F	NM_014071	NP_054790	Q14686	NCOA6_HUMAN			10	5005	-			812			TBP/GTF2A-binding region.|NCOA1-binding region.|NCOA6IP-binding region.|CREBBP-binding region.|Gln-rich.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	c.2434G>T	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310206	0.60414	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.26660	1.72;1.72	5.86	5.86	0.93980	.	0.000000	0.53938	D	0.000042	T	0.17746	0.0426	N	0.24115	0.695	0.46823	D	0.999216	P	0.45902	0.868	B	0.39068	0.289	T	0.03761	-1.1006	10	0.19590	T	0.45	-5.0218	15.6491	0.77076	0.0:0.8635:0.1365:0.0	.	812	Q14686	NCOA6_HUMAN	F	812	ENSP00000363929:V812F;ENSP00000351894:V812F	ENSP00000351894:V812F	V	-	1	0	NCOA6	32801225	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	4.065000	0.57513	2.771000	0.95319	0.563000	0.77884	GTC		0.542	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		48	71	1	0	1.57e-16	2.18e-16	48	71				
NCOA6	23054	broad.mit.edu	37	20	33345322	33345322	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr20:33345322C>A	ENST00000374796.2	-	8	3799	c.1229G>T	c.(1228-1230)gGg>gTg	p.G410V	NCOA6_ENST00000359003.2_Missense_Mutation_p.G410V			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	410	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CCTAGAGGGCCCTCCCTGCAA	0.597																																						uc002xav.2		NA																	0				ovary(3)|breast(3)|central_nervous_system(1)	7						c.(1228-1230)GGG>GTG		nuclear receptor coactivator 6							54.0	55.0	55.0					20																	33345322		2203	4300	6503	SO:0001583	missense	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345322C>A	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.1229G>T	20.37:g.33345322C>A	ENSP00000363929:p.Gly410Val					NCOA6_uc002xaw.2_Missense_Mutation_p.G410V|NCOA6_uc010gew.1_Missense_Mutation_p.G367V	p.G410V	NM_014071	NP_054790	Q14686	NCOA6_HUMAN			8	3800	-			410			TBP/GTF2A-binding region.|NCOA1-binding region.|Gln-rich.|CREBBP-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	c.1229G>T	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.378220	0.61735	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.30714	1.52;1.52	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000002	T	0.39036	0.1063	L	0.29908	0.895	0.80722	D	1	P;P	0.47191	0.846;0.891	P;P	0.52031	0.521;0.688	T	0.09422	-1.0675	10	0.56958	D	0.05	-4.25	19.8745	0.96864	0.0:1.0:0.0:0.0	.	410;410	F6M2K2;Q14686	.;NCOA6_HUMAN	V	410	ENSP00000363929:G410V;ENSP00000351894:G410V	ENSP00000351894:G410V	G	-	2	0	NCOA6	32808983	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.202000	0.58446	2.704000	0.92352	0.467000	0.42956	GGG		0.597	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		23	51	1	0	2.28e-05	2.58e-05	23	51				
CDH22	64405	broad.mit.edu	37	20	44839176	44839176	+	Silent	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr20:44839176G>T	ENST00000372262.3	-	6	1456	c.1056C>A	c.(1054-1056)ccC>ccA	p.P352P	CDH22_ENST00000537909.1_Silent_p.P352P|CDH22_ENST00000474438.1_5'UTR	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	352	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CGGTGTGCACGGGCTGGGATT	0.677																																						uc002xrm.2		NA																	0				ovary(4)|skin(1)	5						c.(1054-1056)CCC>CCA		cadherin 22 precursor							42.0	39.0	40.0					20																	44839176		2202	4299	6501	SO:0001819	synonymous_variant	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44839176G>T	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"""Cadherins / Major cadherins"""	13251	protein-coding gene	gene with protein product		609920	"""cadherin-like 22"""	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.1056C>A	20.37:g.44839176G>T						CDH22_uc010ghk.1_Silent_p.P352P|CDH22_uc002xrn.1_Silent_p.P103P	p.P352P	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN			6	1457	-		Myeloproliferative disorder(115;0.0122)	352			Extracellular (Potential).|Cadherin 3.		B9EGK7|O43205	Silent	SNP	ENST00000372262.3	37	c.1056C>A	CCDS13395.1																																																																																				0.677	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248		16	11	1	0	2.94e-08	3.61e-08	16	11				
FAM65C	140876	broad.mit.edu	37	20	49221286	49221286	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr20:49221286C>G	ENST00000327979.2	-	12	1381	c.970G>C	c.(970-972)Gtg>Ctg	p.V324L	FAM65C_ENST00000045083.2_Missense_Mutation_p.V324L|FAM65C_ENST00000535356.1_Missense_Mutation_p.V328L			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	324										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTGGGTGACACCAGGAAGCTC	0.602																																						uc002xvm.2		NA																	0				ovary(2)	2						c.(970-972)GTG>CTG		hypothetical protein LOC140876							43.0	42.0	43.0					20																	49221286		2203	4300	6503	SO:0001583	missense	140876							g.chr20:49221286C>G	AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 175"", ""chromosome 20 open reading frame 176"""	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.970G>C	20.37:g.49221286C>G	ENSP00000332663:p.Val324Leu					FAM65C_uc010zyt.1_Missense_Mutation_p.V328L|FAM65C_uc010zyu.1_RNA|FAM65C_uc002xvn.1_Missense_Mutation_p.V324L	p.V324L	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN			12	1288	-			324					Q5QPB6|Q9NQQ2	Missense_Mutation	SNP	ENST00000327979.2	37	c.970G>C	CCDS13431.2	.	.	.	.	.	.	.	.	.	.	C	10.80	1.452603	0.26074	.	.	ENSG00000042062	ENST00000327979;ENST00000045083;ENST00000535356	T;T;T	0.01918	4.56;4.56;4.56	3.95	-1.31	0.09230	.	1.100420	0.06892	N	0.804398	T	0.01222	0.0040	N	0.04880	-0.145	0.21878	N	0.999495	B;B	0.09022	0.001;0.002	B;B	0.06405	0.002;0.002	T	0.48801	-0.9003	10	0.27082	T	0.32	-7.5383	3.4037	0.07333	0.5365:0.2439:0.1251:0.0945	.	328;324	F5H0X2;Q96MK2	.;FA65C_HUMAN	L	324;324;328	ENSP00000332663:V324L;ENSP00000045083:V324L;ENSP00000439802:V328L	ENSP00000045083:V324L	V	-	1	0	FAM65C	48654693	0.000000	0.05858	0.988000	0.46212	0.930000	0.56654	-0.198000	0.09505	-0.062000	0.13088	0.561000	0.74099	GTG		0.602	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257962.1			10	13	0	0	0	0	10	13				
LAMA5	3911	broad.mit.edu	37	20	60887107	60887107	+	Splice_Site	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr20:60887107C>T	ENST00000252999.3	-	70	9571		c.e70-1		LAMA5_ENST00000492698.1_5'Flank	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5						angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			ATAGCCCATCCTGGGGACGGC	0.672																																						uc002ycq.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.e70-1		laminin alpha 5 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						36.0	40.0	39.0					20																	60887107		2200	4291	6491	SO:0001630	splice_region_variant	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60887107C>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.9505-1G>A	20.37:g.60887107C>T							p.D3169_splice	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		70	9572	-	Breast(26;1.57e-08)							Q8TDF8|Q8WZA7|Q9H1P1	Splice_Site	SNP	ENST00000252999.3	37	c.9505_splice	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	c	15.13	2.741647	0.49151	.	.	ENSG00000130702	ENST00000252999	.	.	.	4.1	4.1	0.47936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0843	0.81031	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LAMA5	60320502	1.000000	0.71417	0.738000	0.30950	0.545000	0.35147	3.604000	0.54081	2.118000	0.64928	0.556000	0.70494	.		0.672	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560	Intron	21	23	0	0	0	0	21	23				
TPTE	7179	broad.mit.edu	37	21	10959762	10959762	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr21:10959762G>T	ENST00000361285.4	-	8	541	c.212C>A	c.(211-213)gCt>gAt	p.A71D	TPTE_ENST00000298232.7_Missense_Mutation_p.A53D|TPTE_ENST00000342420.5_Intron|TPTE_ENST00000415664.2_5'UTR	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	71					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AACATTTTCAGCATCTTCAAC	0.363																																						uc002yip.1		NA																	0				ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(211-213)GCT>GAT		transmembrane phosphatase with tensin homology							90.0	88.0	88.0					21																	10959762		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10959762G>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.212C>A	21.37:g.10959762G>T	ENSP00000355208:p.Ala71Asp					TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.A53D|TPTE_uc002yir.1_Intron|TPTE_uc010gkv.1_Intron	p.A71D	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	8	580	-			71					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.212C>A	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	G	3.997	-0.003328	0.07773	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000328758	D;D	0.94931	-3.37;-3.56	1.36	-2.72	0.05968	.	2.894520	0.02358	U	0.076587	D	0.91710	0.7379	L	0.34521	1.04	0.09310	N	1	D;P	0.53151	0.958;0.937	P;B	0.47981	0.563;0.307	D	0.84086	0.0387	10	0.66056	D	0.02	-3.2147	6.1941	0.20540	0.4946:0.0:0.5054:0.0	.	53;71	P56180-2;P56180	.;TPTE_HUMAN	D	53;71;53	ENSP00000298232:A53D;ENSP00000355208:A71D	ENSP00000298232:A53D	A	-	2	0	TPTE	9981633	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	-0.698000	0.05092	-1.217000	0.02604	0.194000	0.17425	GCT		0.363	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			9	192	1	0	2.74e-10	3.5e-10	9	192				
DSCAM	1826	broad.mit.edu	37	21	41539196	41539196	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr21:41539196C>A	ENST00000400454.1	-	16	3444	c.2967G>T	c.(2965-2967)caG>caT	p.Q989H		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	989	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGTGAACTTCCTGAGGTGGAC	0.532																																					Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1		NA																	0				ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(2965-2967)CAG>CAT		Down syndrome cell adhesion molecule isoform							98.0	98.0	98.0					21																	41539196		1926	4129	6055	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41539196C>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.2967G>T	21.37:g.41539196C>A	ENSP00000383303:p.Gln989His					DSCAM_uc002yyr.1_RNA	p.Q989H	NM_001389	NP_001380	O60469	DSCAM_HUMAN			16	3419	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	989			Fibronectin type-III 2.|Extracellular (Potential).		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.2967G>T	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.198147	0.58126	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.58210	0.35;0.35	5.22	4.34	0.51931	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.058637	0.64402	D	0.000001	T	0.59649	0.2209	L	0.54863	1.705	0.36076	D	0.842432	D	0.61080	0.989	P	0.57371	0.819	T	0.67546	-0.5643	10	0.45353	T	0.12	.	10.1204	0.42616	0.0:0.9076:0.0:0.0924	.	989	O60469	DSCAM_HUMAN	H	989;741	ENSP00000383303:Q989H;ENSP00000385342:Q741H	ENSP00000383303:Q989H	Q	-	3	2	DSCAM	40461066	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.658000	0.46733	1.343000	0.45638	0.655000	0.94253	CAG		0.532	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		18	42	1	0	7.45e-12	9.78e-12	18	42				
COL6A2	1292	broad.mit.edu	37	21	47545908	47545908	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr21:47545908G>T	ENST00000300527.4	+	26	2283	c.2179G>T	c.(2179-2181)Gcg>Tcg	p.A727S	COL6A2_ENST00000409416.1_Missense_Mutation_p.A727S|COL6A2_ENST00000310645.5_Missense_Mutation_p.A727S|COL6A2_ENST00000357838.4_Missense_Mutation_p.A727S|COL6A2_ENST00000397763.1_Missense_Mutation_p.A727S	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	727	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		ACGTGTGTTTGCGGTGGTCAT	0.657																																						uc002zia.1		NA																	0				central_nervous_system(7)|ovary(1)	8						c.(2179-2181)GCG>TCG		alpha 2 type VI collagen isoform 2C2 precursor							78.0	76.0	76.0					21																	47545908		2203	4300	6503	SO:0001583	missense	1292				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47545908G>T	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2179G>T	21.37:g.47545908G>T	ENSP00000300527:p.Ala727Ser					COL6A2_uc002zhy.1_Missense_Mutation_p.A727S|COL6A2_uc002zhz.1_Missense_Mutation_p.A727S|COL6A2_uc002zib.1_Missense_Mutation_p.A133S|COL6A2_uc002zic.1_5'Flank	p.A727S	NM_001849	NP_001840	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	26	2261	+	Breast(49;0.245)		727			VWFA 2.|Nonhelical region.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.2179G>T	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.222812	0.58668	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763	T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3	4.05	4.05	0.47172	von Willebrand factor, type A (3);	0.119294	0.56097	D	0.000027	D	0.89068	0.6610	M	0.77616	2.38	0.54753	D	0.99998	D;P;P	0.76494	0.999;0.932;0.827	D;P;B	0.71870	0.975;0.582;0.442	D	0.90985	0.4830	10	0.72032	D	0.01	-15.8878	16.2114	0.82164	0.0:0.0:1.0:0.0	.	727;727;727	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	S	727	ENSP00000300527:A727S;ENSP00000350497:A727S;ENSP00000312529:A727S;ENSP00000387115:A727S;ENSP00000380870:A727S	ENSP00000300527:A727S	A	+	1	0	COL6A2	46370336	1.000000	0.71417	0.964000	0.40570	0.443000	0.32047	9.535000	0.98064	1.808000	0.52836	0.491000	0.48974	GCG		0.657	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			12	31	1	0	3.04e-14	4.12e-14	12	31				
ZNF74	7625	broad.mit.edu	37	22	20760750	20760750	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr22:20760750A>C	ENST00000400451.2	+	5	1941	c.1427A>C	c.(1426-1428)gAg>gCg	p.E476A	ZNF74_ENST00000356671.5_Missense_Mutation_p.E476A|ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000403682.3_3'UTR|ZNF74_ENST00000405993.1_Missense_Mutation_p.E444A	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	476					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			AAGTGCAACGAGTGCGGCAAA	0.642																																						uc010gsm.2		NA																	0				ovary(1)	1						c.(1426-1428)GAG>GCG		zinc finger protein 74							62.0	71.0	68.0					22																	20760750		2203	4300	6503	SO:0001583	missense	7625				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr22:20760750A>C	X71623	CCDS42982.1, CCDS58794.1	22q11.2	2013-01-08	2006-05-12		ENSG00000185252	ENSG00000185252		"""Zinc fingers, C2H2-type"", ""-"""	13144	protein-coding gene	gene with protein product		194548	"""zinc finger protein 74 (Cos52)"""			1639391, 10591208	Standard	NM_003426		Approved	Cos52, Zfp520, ZNF520	uc010gsm.4	Q16587	OTTHUMG00000150687	ENST00000400451.2:c.1427A>C	22.37:g.20760750A>C	ENSP00000383301:p.Glu476Ala					ZNF74_uc002zsg.2_Missense_Mutation_p.E405A|ZNF74_uc002zsh.2_Missense_Mutation_p.E476A|ZNF74_uc002zsi.2_Missense_Mutation_p.E405A|ZNF74_uc010gsn.2_Missense_Mutation_p.E405A	p.E476A	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		6	1639	+	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	476			C2H2-type 9.		B5MCE3|B7Z5Y2|Q6IBV2|Q6PJP1|Q9UC04|Q9UF05|Q9UF06|Q9UF07	Missense_Mutation	SNP	ENST00000400451.2	37	c.1427A>C	CCDS42982.1	.	.	.	.	.	.	.	.	.	.	A	18.16	3.562597	0.65538	.	.	ENSG00000185252	ENST00000400451;ENST00000356671;ENST00000405993	T;T;T	0.35236	1.32;1.32;1.32	3.94	3.94	0.45596	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40640	N	0.001042	T	0.45856	0.1363	L	0.41573	1.285	0.22745	N	0.998787	P	0.46859	0.885	P	0.62885	0.908	T	0.19976	-1.0289	10	0.72032	D	0.01	-43.9754	9.4836	0.38915	1.0:0.0:0.0:0.0	.	476	Q16587	ZNF74_HUMAN	A	476;476;444	ENSP00000383301:E476A;ENSP00000349098:E476A;ENSP00000385855:E444A	ENSP00000349098:E476A	E	+	2	0	ZNF74	19090750	0.983000	0.35010	0.727000	0.30756	0.990000	0.78478	3.470000	0.53100	2.010000	0.58986	0.533000	0.62120	GAG		0.642	ZNF74-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319648.2	NM_003426		25	53	0	0	0	0	25	53				
BPIFC	254240	broad.mit.edu	37	22	32828502	32828502	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr22:32828502G>T	ENST00000397452.1	-	11	1117	c.1007C>A	c.(1006-1008)cCc>cAc	p.P336H	BPIFC_ENST00000534972.1_Missense_Mutation_p.P60H|BPIFC_ENST00000432451.2_Intron|BPIFC_ENST00000300399.3_Missense_Mutation_p.P336H			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	336						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										CACCATGAAGGGCTGGGACAA	0.488																																						uc003amn.2		NA																	0				ovary(1)|skin(1)	2						c.(1006-1008)CCC>CAC		bactericidal/permeability-increasing							221.0	205.0	210.0					22																	32828502		2203	4300	6503	SO:0001583	missense	254240					extracellular region	lipopolysaccharide binding|phospholipid binding	g.chr22:32828502G>T	AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"""BPI fold containing"""	16503	protein-coding gene	gene with protein product		614109	"""bactericidal/permeability-increasing protein-like 2"""	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.1007C>A	22.37:g.32828502G>T	ENSP00000380594:p.Pro336His					BPIL2_uc010gwo.2_Intron|BPIL2_uc011amb.1_Missense_Mutation_p.P60H	p.P336H	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN			10	1007	-			336					A2RRF1	Missense_Mutation	SNP	ENST00000397452.1	37	c.1007C>A	CCDS13906.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.321370	0.81580	.	.	ENSG00000184459	ENST00000397452;ENST00000300399;ENST00000534972	T;T;T	0.08896	3.04;3.04;3.04	6.07	6.07	0.98685	.	0.208574	0.52532	D	0.000075	T	0.34513	0.0900	M	0.85373	2.75	0.41847	D	0.990159	D	0.89917	1.0	D	0.75020	0.985	T	0.03717	-1.1010	10	0.62326	D	0.03	-19.8253	17.5606	0.87906	0.0:0.0:1.0:0.0	.	336	Q8NFQ6	BPIFC_HUMAN	H	336;336;60	ENSP00000380594:P336H;ENSP00000300399:P336H;ENSP00000439123:P60H	ENSP00000300399:P336H	P	-	2	0	BPIFC	31158502	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	5.051000	0.64257	2.890000	0.99128	0.650000	0.86243	CCC		0.488	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932		33	66	1	0	4.42e-11	5.73e-11	33	66				
TRIOBP	11078	broad.mit.edu	37	22	38121264	38121264	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr22:38121264A>T	ENST00000406386.3	+	7	2956	c.2701A>T	c.(2701-2703)Aac>Tac	p.N901Y		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	901					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCATCGTACTAACAAAGACAT	0.547																																						uc003atr.2		NA																	0				central_nervous_system(1)	1						c.(2701-2703)AAC>TAC		TRIO and F-actin binding protein isoform 6							130.0	143.0	139.0					22																	38121264		2017	4156	6173	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38121264A>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.2701A>T	22.37:g.38121264A>T	ENSP00000384312:p.Asn901Tyr					TRIOBP_uc003atu.2_Missense_Mutation_p.N729Y|TRIOBP_uc003atq.1_Missense_Mutation_p.N901Y|TRIOBP_uc003ats.1_Missense_Mutation_p.N729Y	p.N901Y	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN			7	2972	+	Melanoma(58;0.0574)		901					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.2701A>T	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	A	17.14	3.313163	0.60414	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.24723	1.84	4.84	3.81	0.43845	.	.	.	.	.	T	0.38746	0.1052	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	T	0.19095	-1.0316	9	0.72032	D	0.01	.	6.4752	0.22031	0.8942:0.0:0.1058:0.0	.	901	Q9H2D6	TARA_HUMAN	Y	901	ENSP00000384312:N901Y	ENSP00000384312:N901Y	N	+	1	0	TRIOBP	36451210	0.971000	0.33674	0.979000	0.43373	0.887000	0.51463	2.214000	0.42853	2.129000	0.65627	0.456000	0.33151	AAC		0.547	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			99	156	0	0	0	0	99	156				
GCAT	23464	broad.mit.edu	37	22	38212669	38212669	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr22:38212669G>T	ENST00000248924.6	+	9	1260	c.1204G>T	c.(1204-1206)Gac>Tac	p.D402Y	GCAT_ENST00000323205.6_Missense_Mutation_p.D428Y	NM_014291.3	NP_055106.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	402					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|L-threonine catabolic process to glycine (GO:0019518)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	glycine C-acetyltransferase activity (GO:0008890)|pyridoxal phosphate binding (GO:0030170)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)	GGAAGACATTGACCGCTGCGT	0.627																																						uc003atz.2		NA																	0					0						c.(1204-1206)GAC>TAC		glycine C-acetyltransferase precursor	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						74.0	65.0	68.0					22																	38212669		2203	4300	6503	SO:0001583	missense	23464				biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr22:38212669G>T	AF077740	CCDS13957.1, CCDS54527.1	22q13.1	2010-01-19	2010-01-19		ENSG00000100116	ENSG00000100116	2.3.1.29		4188	protein-coding gene	gene with protein product	"""2-amino-3-ketobutyrate coenzyme A ligase"""	607422	"""glycine C-acetyltransferase (2-amino-3-ketobutyrate coenzyme A ligase)"""				Standard	NM_014291		Approved	KBL	uc003aua.2	O75600	OTTHUMG00000150664	ENST00000248924.6:c.1204G>T	22.37:g.38212669G>T	ENSP00000248924:p.Asp402Tyr					GCAT_uc003aua.1_Missense_Mutation_p.D428Y	p.D402Y	NM_014291	NP_055106	O75600	KBL_HUMAN			9	1224	+	Melanoma(58;0.045)		402					E2QC23|Q6ZWF1|Q96CA9	Missense_Mutation	SNP	ENST00000248924.6	37	c.1204G>T	CCDS13957.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984099	0.74474	.	.	ENSG00000100116	ENST00000323205;ENST00000248924	D;D	0.91740	-2.9;-2.9	5.73	5.73	0.89815	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.044322	0.85682	D	0.000000	D	0.97945	0.9324	H	0.98612	4.28	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.72075	0.976;0.973	D	0.98948	1.0793	10	0.87932	D	0	-41.7014	19.9025	0.96993	0.0:0.0:1.0:0.0	.	428;402	E2QC23;O75600	.;KBL_HUMAN	Y	428;402	ENSP00000371110:D428Y;ENSP00000248924:D402Y	ENSP00000248924:D402Y	D	+	1	0	GCAT	36542615	1.000000	0.71417	0.990000	0.47175	0.291000	0.27294	7.620000	0.83070	2.722000	0.93159	0.655000	0.94253	GAC		0.627	GCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319506.1	NM_014291.2		43	60	1	0	7.53e-24	1.12e-23	43	60				
NPTXR	23467	broad.mit.edu	37	22	39219124	39219124	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr22:39219124G>C	ENST00000333039.2	-	4	1365	c.1242C>G	c.(1240-1242)atC>atG	p.I414M		NM_014293.3	NP_055108	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	414	Pentaxin.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					CATGAGGCTTGATGGGGTGCC	0.602																																					Pancreas(139;2521 3281 36965)	uc003awk.2		NA																	0				central_nervous_system(2)|skin(1)	3						c.(1240-1242)ATC>ATG		neuronal pentraxin receptor							80.0	69.0	72.0					22																	39219124		2203	4300	6503	SO:0001583	missense	23467					integral to membrane	metal ion binding	g.chr22:39219124G>C	AF052163	CCDS33647.1	22q13.1	2007-01-25			ENSG00000221890	ENSG00000221890			7954	protein-coding gene	gene with protein product		609474				16497176	Standard	NM_014293		Approved		uc003awk.3	O95502	OTTHUMG00000150458	ENST00000333039.2:c.1242C>G	22.37:g.39219124G>C	ENSP00000327545:p.Ile414Met						p.I414M	NM_014293	NP_055108	O95502	NPTXR_HUMAN			4	1396	-	Melanoma(58;0.04)		414			Pentaxin.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000333039.2	37	c.1242C>G	CCDS33647.1	.	.	.	.	.	.	.	.	.	.	g	16.61	3.172436	0.57584	.	.	ENSG00000221890	ENST00000333039	T	0.08634	3.07	3.98	2.96	0.34315	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.059467	0.64402	D	0.000004	T	0.33265	0.0857	M	0.93808	3.46	0.31914	N	0.614284	D	0.71674	0.998	D	0.72075	0.976	T	0.55114	-0.8191	9	0.87932	D	0	-38.8377	9.0884	0.36596	0.1757:0.0:0.8243:0.0	.	414	O95502	NPTXR_HUMAN	M	414	ENSP00000327545:I414M	ENSP00000327545:I414M	I	-	3	3	NPTXR	37549070	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.016000	0.57159	2.204000	0.70986	0.558000	0.71614	ATC		0.602	NPTXR-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318194.2	NM_014293		28	67	0	0	0	0	28	67				
ENTHD1	150350	broad.mit.edu	37	22	40140270	40140270	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr22:40140270C>T	ENST00000325157.6	-	7	1488	c.1238G>A	c.(1237-1239)gGa>gAa	p.G413E		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	413										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					GGAAGATGCTCCCTCAGAAGC	0.363																																						uc003ayg.2		NA																	0				ovary(2)|skin(1)	3						c.(1237-1239)GGA>GAA		ENTH domain containing 1							52.0	52.0	52.0					22																	40140270		2203	4300	6503	SO:0001583	missense	150350							g.chr22:40140270C>T	AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.1238G>A	22.37:g.40140270C>T	ENSP00000317431:p.Gly413Glu						p.G413E	NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN			7	1489	-	Melanoma(58;0.0749)		413					B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP	ENST00000325157.6	37	c.1238G>A	CCDS13998.1	.	.	.	.	.	.	.	.	.	.	C	6.340	0.430772	0.12045	.	.	ENSG00000176177	ENST00000325157	T	0.52057	0.68	5.34	-0.668	0.11392	.	0.520430	0.17052	N	0.188888	T	0.28466	0.0704	L	0.29908	0.895	0.09310	N	1	B	0.16166	0.016	B	0.17722	0.019	T	0.12041	-1.0563	10	0.44086	T	0.13	-1.8792	3.6482	0.08192	0.2943:0.4532:0.0:0.2525	.	413	Q8IYW4	ENTD1_HUMAN	E	413	ENSP00000317431:G413E	ENSP00000317431:G413E	G	-	2	0	ENTHD1	38470216	0.000000	0.05858	0.002000	0.10522	0.291000	0.27294	-0.135000	0.10420	-0.191000	0.10448	-0.827000	0.03088	GGA		0.363	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321302.1	NM_152512		8	41	0	0	0	0	8	41				
PKDREJ	10343	broad.mit.edu	37	22	46657867	46657867	+	Silent	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr22:46657867G>C	ENST00000253255.5	-	1	1352	c.1353C>G	c.(1351-1353)ctC>ctG	p.L451L		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	451	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TTGGTCCTTGGAGCACGTGGA	0.408																																						uc003bhh.2		NA																	0				breast(3)|ovary(2)	5						c.(1351-1353)CTC>CTG		receptor for egg jelly-like protein precursor							109.0	101.0	104.0					22																	46657867		2203	4300	6503	SO:0001819	synonymous_variant	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46657867G>C	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.1353C>G	22.37:g.46657867G>C							p.L451L	NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	1353	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	451			Extracellular (Potential).|REJ.		B1AJY3|O95850	Silent	SNP	ENST00000253255.5	37	c.1353C>G	CCDS14073.1																																																																																				0.408	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		43	40	0	0	0	0	43	40				
PKDREJ	10343	broad.mit.edu	37	22	46658330	46658330	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr22:46658330G>A	ENST00000253255.5	-	1	889	c.890C>T	c.(889-891)tCg>tTg	p.S297L		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	297	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CCACTGTAACGAATTATTGGG	0.572																																						uc003bhh.2		NA																	0				breast(3)|ovary(2)	5						c.(889-891)TCG>TTG		receptor for egg jelly-like protein precursor							145.0	156.0	153.0					22																	46658330		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46658330G>A	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.890C>T	22.37:g.46658330G>A	ENSP00000253255:p.Ser297Leu						p.S297L	NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	890	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	297			Extracellular (Potential).|REJ.		B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.890C>T	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.066131	0.55539	.	.	ENSG00000130943	ENST00000253255	T	0.70869	-0.52	4.56	1.26	0.21427	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	1.193810	0.06237	N	0.689783	T	0.66538	0.2799	L	0.58101	1.795	0.09310	N	1	B	0.22683	0.073	B	0.22152	0.038	T	0.52139	-0.8615	10	0.31617	T	0.26	-13.5277	9.4032	0.38447	0.2596:0.0:0.7404:0.0	.	297	Q9NTG1	PKDRE_HUMAN	L	297	ENSP00000253255:S297L	ENSP00000253255:S297L	S	-	2	0	PKDREJ	45036994	0.002000	0.14202	0.000000	0.03702	0.005000	0.04900	1.109000	0.31135	0.481000	0.27557	0.603000	0.83216	TCG		0.572	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		125	132	0	0	0	0	125	132				
TUBGCP6	85378	broad.mit.edu	37	22	50665439	50665439	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr22:50665439C>A	ENST00000248846.5	-	6	1584	c.1480G>T	c.(1480-1482)Gcg>Tcg	p.A494S	TUBGCP6_ENST00000439308.2_Missense_Mutation_p.A494S|TUBGCP6_ENST00000491449.1_5'Flank			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	494					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GTGGGAAACGCGGCCCTGGGG	0.687																																						uc003bkb.1		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(1480-1482)GCG>TCG		tubulin, gamma complex associated protein 6							25.0	27.0	26.0					22																	50665439		2190	4294	6484	SO:0001583	missense	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50665439C>A	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.1480G>T	22.37:g.50665439C>A	ENSP00000248846:p.Ala494Ser					TUBGCP6_uc010har.1_Missense_Mutation_p.A494S|TUBGCP6_uc010has.1_RNA|TUBGCP6_uc010hat.1_5'Flank|TUBGCP6_uc003bkd.1_5'Flank	p.A494S	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	6	1992	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	494					Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	ENST00000248846.5	37	c.1480G>T	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	C	8.648	0.897673	0.17686	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	T;T	0.07444	3.19;3.19	4.65	-2.19	0.07015	.	1.487300	0.03637	N	0.238816	T	0.06280	0.0162	L	0.33485	1.01	0.09310	N	1	B;B	0.23540	0.087;0.087	B;B	0.25405	0.06;0.06	T	0.38779	-0.9645	10	0.05833	T	0.94	.	7.8834	0.29635	0.3605:0.2532:0.3863:0.0	.	494;494	B2RWN4;Q96RT7	.;GCP6_HUMAN	S	494	ENSP00000248846:A494S;ENSP00000397387:A494S	ENSP00000248846:A494S	A	-	1	0	TUBGCP6	49007566	0.000000	0.05858	0.000000	0.03702	0.220000	0.24768	-0.166000	0.09954	-0.029000	0.13827	0.561000	0.74099	GCG		0.687	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		4	10	1	0	0.000602214	0.000655325	4	10				
MAPK8IP2	23542	broad.mit.edu	37	22	51041671	51041671	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr22:51041671G>T	ENST00000329492.3	+	3	308	c.191G>T	c.(190-192)cGc>cTc	p.R64L	MAPK8IP2_ENST00000399908.2_5'UTR|MAPK8IP2_ENST00000399912.1_5'UTR|MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.R64L|MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.R37L|CHKB_ENST00000463053.1_5'Flank|MAPK8IP2_ENST00000442429.2_Missense_Mutation_p.R64L	NM_012324.3	NP_036456.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	64					behavioral fear response (GO:0001662)|dendrite morphogenesis (GO:0048813)|MAPK cascade (GO:0000165)|nonassociative learning (GO:0046958)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of signal transduction (GO:0009967)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of JNK cascade (GO:0046328)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of receptor activity (GO:0010469)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal complex assembly (GO:0007172)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|neuronal postsynaptic density (GO:0097481)	beta-amyloid binding (GO:0001540)|kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCCCTGGGGCGCTCGGAGCAG	0.612																																						uc003bmx.2		NA																	0				large_intestine(2)|central_nervous_system(1)	3						c.(190-192)CGC>CTC		mitogen-activated protein kinase 8 interacting							13.0	16.0	15.0					22																	51041671		1970	4161	6131	SO:0001583	missense	23542				behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding	g.chr22:51041671G>T	AL021708	CCDS74886.1	22q13.33	2010-04-06			ENSG00000008735	ENSG00000008735			6883	protein-coding gene	gene with protein product	"""islet-brain 2"", ""JNK-interacting protein 2"""	607755	"""PRKM8 interacting protein-like"""	PRKM8IPL		10490659	Standard	NM_012324		Approved	IB2, JIP2	uc003bmy.3	Q13387	OTTHUMG00000150181	ENST00000329492.3:c.191G>T	22.37:g.51041671G>T	ENSP00000330572:p.Arg64Leu					MAPK8IP2_uc003bmy.2_Missense_Mutation_p.R37L|MAPK8IP2_uc011asc.1_5'Flank	p.R64L	NM_012324	NP_036456	Q13387	JIP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	3	308	+		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	64					Q96G62|Q99771|Q9NZ59|Q9UKQ4	Missense_Mutation	SNP	ENST00000329492.3	37	c.191G>T		.	.	.	.	.	.	.	.	.	.	G	28.4	4.919092	0.92249	.	.	ENSG00000008735	ENST00000329492;ENST00000442429;ENST00000341339;ENST00000008876	T;T;T;T	0.56444	0.89;0.46;1.14;1.74	5.55	5.55	0.83447	.	0.284746	0.34802	N	0.003680	T	0.65491	0.2696	L	0.55481	1.735	0.27617	N	0.948474	D;D	0.63046	0.992;0.992	P;P	0.58820	0.846;0.846	T	0.62412	-0.6860	10	0.72032	D	0.01	-1.5235	17.0686	0.86567	0.0:0.0:1.0:0.0	.	37;64	E7EQG6;Q13387	.;JIP2_HUMAN	L	64;64;64;37	ENSP00000330572:R64L;ENSP00000404914:R64L;ENSP00000340015:R64L;ENSP00000008876:R37L	ENSP00000008876:R37L	R	+	2	0	MAPK8IP2	49388537	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.624000	0.74243	2.638000	0.89438	0.555000	0.69702	CGC		0.612	MAPK8IP2-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_012324		16	14	1	0	2.32e-09	2.92e-09	16	14				
CNTN4	152330	broad.mit.edu	37	3	3081938	3081938	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:3081938T>G	ENST00000397461.1	+	19	2765	c.2381T>G	c.(2380-2382)gTg>gGg	p.V794G	CNTN4_ENST00000358480.3_Missense_Mutation_p.V575G|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000427331.1_Missense_Mutation_p.V794G|CNTN4_ENST00000448906.2_Missense_Mutation_p.V466G|CNTN4_ENST00000397459.2_Missense_Mutation_p.V466G|CNTN4_ENST00000418658.1_Missense_Mutation_p.V794G	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	794	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ACCACGGTGGTGTATTCTGCA	0.428																																						uc003bpc.2		NA																	0				large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7						c.(2380-2382)GTG>GGG		contactin 4 isoform a precursor							80.0	71.0	74.0					3																	3081938		2203	4300	6503	SO:0001583	missense	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:3081938T>G	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.2381T>G	3.37:g.3081938T>G	ENSP00000380602:p.Val794Gly					CNTN4_uc003bpb.1_Missense_Mutation_p.V465G|CNTN4_uc003bpe.2_Missense_Mutation_p.V466G|CNTN4_uc003bpf.2_Missense_Mutation_p.V465G|CNTN4_uc003bpg.2_Missense_Mutation_p.V50G	p.V794G	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	19	2602	+		Ovarian(110;0.156)	794			Fibronectin type-III 2.		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	c.2381T>G	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	T	16.54	3.151356	0.57151	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43	4.98	4.98	0.66077	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.134965	0.50627	D	0.000103	T	0.49355	0.1552	L	0.50919	1.6	0.80722	D	1	B;B	0.31989	0.034;0.35	B;B	0.34301	0.109;0.179	T	0.48479	-0.9032	10	0.35671	T	0.21	.	14.9936	0.71412	0.0:0.0:0.0:1.0	.	793;794	Q8IWV2-3;Q8IWV2	.;CNTN4_HUMAN	G	794;794;794;575;466;466	ENSP00000396010:V794G;ENSP00000380602:V794G;ENSP00000413642:V794G;ENSP00000351267:V575G;ENSP00000380600:V466G;ENSP00000392077:V466G	ENSP00000351267:V575G	V	+	2	0	CNTN4	3056938	1.000000	0.71417	0.867000	0.34043	0.956000	0.61745	7.815000	0.86186	1.988000	0.58038	0.533000	0.62120	GTG		0.428	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			25	17	0	0	0	0	25	17				
CHCHD4	131474	broad.mit.edu	37	3	14154541	14154541	+	Missense_Mutation	SNP	C	C	T	rs552284576		TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:14154541C>T	ENST00000396914.3	-	3	456	c.275G>A	c.(274-276)cGg>cAg	p.R92Q	CHCHD4_ENST00000295767.5_Missense_Mutation_p.R105Q	NM_001098502.1	NP_001091972.1	Q8N4Q1	MIA40_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 4	92	CHCH.				'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein import into mitochondrial intermembrane space (GO:0045041)|protein maturation by protein folding (GO:0022417)|protein targeting to mitochondrion (GO:0006626)	mitochondrial intermembrane space (GO:0005758)	protein disulfide oxidoreductase activity (GO:0015035)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						CTGCATGGCCCGGAACTGGTC	0.517																																						uc003byj.3		NA																	0					0						c.(274-276)CGG>CAG		coiled-coil-helix-coiled-coil-helix domain							102.0	93.0	96.0					3																	14154541		2203	4300	6503	SO:0001583	missense	131474				protein transport|transmembrane transport	mitochondrial intermembrane space		g.chr3:14154541C>T	BC017082	CCDS2617.1, CCDS43054.1	3p25.1	2012-10-15			ENSG00000163528	ENSG00000163528		"""Coiled-coil-helix-coiled-coil-helix domain containing"""	26467	protein-coding gene	gene with protein product	"""translocase of inner mitochondrial membrane 40 homolog (S. cerevisiae)"", ""mitochondrial intermembrane space import and assembly 40 homolog (S. cerevisiae)"""	611077				22214851	Standard	NM_001098502		Approved	FLJ31709, TIMM40, MIA40	uc003byj.4	Q8N4Q1	OTTHUMG00000129805	ENST00000396914.3:c.275G>A	3.37:g.14154541C>T	ENSP00000380122:p.Arg92Gln					CHCHD4_uc003byi.3_Missense_Mutation_p.R105Q	p.R92Q	NM_001098502	NP_001091972	Q8N4Q1	MIA40_HUMAN			3	470	-			92			CHCH.		A8K3Z9|Q96AI2|Q96MY6	Missense_Mutation	SNP	ENST00000396914.3	37	c.275G>A	CCDS43054.1	.	.	.	.	.	.	.	.	.	.	.	16.50	3.141208	0.56936	.	.	ENSG00000163528	ENST00000295767;ENST00000396914	T;T	0.75589	-0.95;-0.95	5.61	5.61	0.85477	CHCH (1);	0.000000	0.85682	D	0.000000	T	0.76442	0.3988	N	0.17674	0.51	0.80722	D	1	D;B	0.76494	0.999;0.274	D;B	0.66351	0.943;0.024	T	0.71945	-0.4439	10	0.18710	T	0.47	-18.2869	19.6398	0.95753	0.0:1.0:0.0:0.0	.	92;105	Q8N4Q1;Q8N4Q1-2	MIA40_HUMAN;.	Q	105;92	ENSP00000295767:R105Q;ENSP00000380122:R92Q	ENSP00000295767:R105Q	R	-	2	0	CHCHD4	14129542	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.719000	0.61937	2.641000	0.89580	0.591000	0.81541	CGG		0.517	CHCHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340423.1	NM_144636		3	45	0	0	0	0	3	45				
XPC	7508	broad.mit.edu	37	3	14220052	14220052	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:14220052G>C	ENST00000285021.7	-	1	231	c.17C>G	c.(16-18)gCg>gGg	p.A6G	XPC_ENST00000449060.2_Missense_Mutation_p.A6G|LSM3_ENST00000306024.3_5'UTR	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	6					DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCCGCCGGCCGCGCGTTTCCG	0.701			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc011ave.1		NA	yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	Mis|N|F|S	"""xeroderma pigmentosum, complementation group C"""			E		skin basal cell|skin squamous cell|melanoma			0				ovary(2)|breast(1)	3						c.(16-18)GCG>GGG	NER	xeroderma pigmentosum, complementation group C																																				SO:0001583	missense	7508	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding	g.chr3:14220052G>C		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group C protein"""	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.17C>G	3.37:g.14220052G>C	ENSP00000285021:p.Ala6Gly					XPC_uc011avf.1_5'UTR|XPC_uc011avg.1_Missense_Mutation_p.A6G|LSM3_uc003byn.2_5'Flank	p.A6G	NM_004628	NP_004619	Q01831	XPC_HUMAN			1	121	-			6					B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Missense_Mutation	SNP	ENST00000285021.7	37	c.17C>G	CCDS46763.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.462195	0.84425	.	.	ENSG00000154767	ENST00000285021;ENST00000449060;ENST00000511155	T;T;T	0.74315	-0.83;-0.83;-0.83	5.19	2.32	0.28847	.	0.908557	0.09425	N	0.803835	T	0.58750	0.2144	L	0.27053	0.805	0.20821	N	0.999849	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.44421	-0.9329	10	0.31617	T	0.26	-2.7699	5.818	0.18512	0.169:0.3045:0.5265:0.0	.	6;6	E9PH69;Q01831	.;XPC_HUMAN	G	6	ENSP00000285021:A6G;ENSP00000404002:A6G;ENSP00000423867:A6G	ENSP00000285021:A6G	A	-	2	0	XPC	14195056	0.000000	0.05858	0.000000	0.03702	0.649000	0.38597	0.504000	0.22626	0.535000	0.28714	0.591000	0.81541	GCG		0.701	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	NM_004628		5	37	0	0	0	0	5	37				
C3orf20	84077	broad.mit.edu	37	3	14745912	14745912	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:14745912C>T	ENST00000253697.3	+	7	1399	c.947C>T	c.(946-948)gCa>gTa	p.A316V	C3orf20_ENST00000435614.1_Missense_Mutation_p.A194V|C3orf20_ENST00000495387.1_3'UTR|C3orf20_ENST00000412910.1_Missense_Mutation_p.A194V	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	316						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						AACTACAAGGCAAAGATGCCC	0.512																																						uc003byy.2		NA																	0				ovary(3)|skin(1)	4						c.(946-948)GCA>GTA		hypothetical protein LOC84077							118.0	124.0	122.0					3																	14745912		2203	4300	6503	SO:0001583	missense	84077					cytoplasm|integral to membrane		g.chr3:14745912C>T	AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.947C>T	3.37:g.14745912C>T	ENSP00000253697:p.Ala316Val					C3orf20_uc003byz.2_Missense_Mutation_p.A194V|C3orf20_uc003bza.2_Missense_Mutation_p.A194V|C3orf20_uc003byx.1_Intron	p.A316V	NM_032137	NP_115513	Q8ND61	CC020_HUMAN			7	1351	+			316					Q7L0U6|Q8NCP2|Q9H0I7	Missense_Mutation	SNP	ENST00000253697.3	37	c.947C>T	CCDS33706.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.045308	0.55110	.	.	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	T;T;T	0.08896	3.33;3.04;3.04	4.91	2.91	0.33838	.	1.067230	0.07377	N	0.886774	T	0.06872	0.0175	L	0.29908	0.895	0.09310	N	1	B	0.24368	0.102	B	0.21917	0.037	T	0.38200	-0.9672	10	0.38643	T	0.18	-3.0095	4.5357	0.12028	0.2799:0.6036:0.0:0.1165	.	316	Q8ND61	CC020_HUMAN	V	316;194;194	ENSP00000253697:A316V;ENSP00000402933:A194V;ENSP00000396081:A194V	ENSP00000253697:A316V	A	+	2	0	C3orf20	14720916	0.043000	0.20138	0.115000	0.21578	0.181000	0.23173	1.813000	0.38962	1.069000	0.40788	0.585000	0.79938	GCA		0.512	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137		46	26	0	0	0	0	46	26				
GALNT15	117248	broad.mit.edu	37	3	16254215	16254215	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:16254215G>T	ENST00000339732.5	+	6	1840	c.1337G>T	c.(1336-1338)gGg>gTg	p.G446V	GALNT15_ENST00000437509.1_Missense_Mutation_p.G446V	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	446					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										ACCTGGCTGGGGTCATTCAAA	0.557																																						uc003car.3		NA																	0				breast(1)	1						c.(1336-1338)GGG>GTG		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							102.0	101.0	101.0					3																	16254215		2203	4300	6503	SO:0001583	missense	117248					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr3:16254215G>T	AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	21531	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 15"""	615131	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"""	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000339732.5:c.1337G>T	3.37:g.16254215G>T	ENSP00000344260:p.Gly446Val					GALNTL2_uc003caq.3_Missense_Mutation_p.G179V	p.G446V	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN			6	1812	+			446			Lumenal (Potential).		A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Missense_Mutation	SNP	ENST00000339732.5	37	c.1337G>T	CCDS33711.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.085985	0.36758	.	.	ENSG00000131386	ENST00000339732;ENST00000437509	T;T	0.64803	-0.12;-0.12	5.38	0.348	0.16026	.	0.505173	0.20339	N	0.094278	T	0.54854	0.1884	M	0.69823	2.125	0.34553	D	0.711528	P	0.35383	0.498	B	0.34242	0.178	T	0.58457	-0.7633	10	0.87932	D	0	.	6.076	0.19915	0.3971:0.2516:0.3513:0.0	.	446	Q8N3T1	GLTL2_HUMAN	V	446	ENSP00000344260:G446V;ENSP00000395873:G446V	ENSP00000344260:G446V	G	+	2	0	GALNTL2	16229219	0.298000	0.24417	0.025000	0.17156	0.987000	0.75469	0.707000	0.25704	-0.239000	0.09710	0.561000	0.74099	GGG		0.557	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346483.2	NM_054110		41	25	1	0	5.45e-19	7.77e-19	41	25				
ARPP21	10777	broad.mit.edu	37	3	35778754	35778754	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:35778754G>A	ENST00000187397.4	+	16	2000	c.1544G>A	c.(1543-1545)gGg>gAg	p.G515E	ARPP21_ENST00000444190.1_Missense_Mutation_p.G461E|ARPP21_ENST00000417925.1_Missense_Mutation_p.G481E|ARPP21_ENST00000458225.1_Missense_Mutation_p.G481E|ARPP21_ENST00000337271.5_Missense_Mutation_p.G461E	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	515	Gln-rich.				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						GCCATGGTGGGGCAGTCCCAA	0.627																																						uc003cgb.2		NA																	0				ovary(2)|skin(1)	3						c.(1543-1545)GGG>GAG		cyclic AMP-regulated phosphoprotein, 21 kD							41.0	48.0	46.0					3																	35778754		2202	4300	6502	SO:0001583	missense	10777					cytoplasm	nucleic acid binding	g.chr3:35778754G>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.1544G>A	3.37:g.35778754G>A	ENSP00000187397:p.Gly515Glu					ARPP21_uc003cga.2_Missense_Mutation_p.G461E|ARPP21_uc011axy.1_Missense_Mutation_p.G481E|ARPP21_uc003cgf.2_Missense_Mutation_p.G316E|ARPP21_uc003cgg.2_Missense_Mutation_p.G3E	p.G515E	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN			16	1808	+			515			Gln-rich.		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	37	c.1544G>A	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814245	0.70912	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02	5.91	5.91	0.95273	.	0.132994	0.52532	D	0.000068	T	0.59797	0.2220	M	0.72894	2.215	0.44388	D	0.997293	P;D;D;P	0.61697	0.797;0.99;0.958;0.797	P;P;P;P	0.56865	0.682;0.808;0.776;0.682	T	0.55218	-0.8175	10	0.36615	T	0.2	-16.2104	18.4858	0.90828	0.0:0.0:1.0:0.0	.	481;3;515;461	Q9UBL0-3;Q9UBL0-5;Q9UBL0;Q9UBL0-4	.;.;ARP21_HUMAN;.	E	481;461;461;515;481	ENSP00000414351:G481E;ENSP00000337792:G461E;ENSP00000405276:G461E;ENSP00000187397:G515E;ENSP00000412326:G481E	ENSP00000187397:G515E	G	+	2	0	ARPP21	35753758	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	6.378000	0.73150	2.808000	0.96608	0.655000	0.94253	GGG		0.627	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		30	27	0	0	0	0	30	27				
SCN11A	11280	broad.mit.edu	37	3	38889201	38889201	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:38889201G>T	ENST00000302328.3	-	26	4558	c.4360C>A	c.(4360-4362)Cac>Aac	p.H1454N	SCN11A_ENST00000456224.3_Missense_Mutation_p.H1416N|SCN11A_ENST00000450244.1_Missense_Mutation_p.H1454N	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1454					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)	AAAGGAATGTGCTCCTGATTT	0.502																																						uc011ays.1		NA																	0				skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9						c.(4360-4362)CAC>AAC		sodium channel, voltage-gated, type XI, alpha	Cocaine(DB00907)						34.0	38.0	37.0					3																	38889201		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38889201G>T	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.4360C>A	3.37:g.38889201G>T	ENSP00000307599:p.His1454Asn						p.H1454N	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	26	4559	-			1454			IV.		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.4360C>A	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	G	10.13	1.265239	0.23136	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224	D;D;D	0.97256	-4.31;-4.31;-4.31	4.96	-1.01	0.10169	Ion transport (1);	0.981567	0.08349	N	0.959526	D	0.91212	0.7231	N	0.16478	0.41	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.82748	-0.0304	10	0.72032	D	0.01	.	3.7733	0.08650	0.1423:0.083:0.3418:0.4328	.	1454	Q9UI33	SCNBA_HUMAN	N	1454;1454;1416	ENSP00000307599:H1454N;ENSP00000400945:H1454N;ENSP00000416757:H1416N	ENSP00000307599:H1454N	H	-	1	0	SCN11A	38864205	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.264000	0.08658	-0.153000	0.11137	-0.813000	0.03139	CAC		0.502	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		19	10	1	0	4.31e-22	6.32e-22	19	10				
SCN11A	11280	broad.mit.edu	37	3	38951680	38951680	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:38951680A>T	ENST00000302328.3	-	8	1176	c.978T>A	c.(976-978)taT>taA	p.Y326*	SCN11A_ENST00000456224.3_Nonsense_Mutation_p.Y326*|SCN11A_ENST00000450244.1_Nonsense_Mutation_p.Y326*|AC116038.1_ENST00000401122.1_RNA|SCN11A_ENST00000444237.2_Nonsense_Mutation_p.Y326*	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	326					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)	GCTTACATTCATATTGTATGG	0.383																																						uc011ays.1		NA																	0				skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9						c.(976-978)TAT>TAA		sodium channel, voltage-gated, type XI, alpha	Cocaine(DB00907)						106.0	99.0	101.0					3																	38951680		2203	4300	6503	SO:0001587	stop_gained	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38951680A>T	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.978T>A	3.37:g.38951680A>T	ENSP00000307599:p.Tyr326*						p.Y326*	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	8	1177	-			326			I.		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Nonsense_Mutation	SNP	ENST00000302328.3	37	c.978T>A	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.813385	0.90790	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	.	.	.	4.97	-1.8	0.07907	.	0.402910	0.27807	N	0.017775	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.447	0.50129	0.5858:0.0:0.4142:0.0	.	.	.	.	X	326	.	ENSP00000307599:Y326X	Y	-	3	2	SCN11A	38926684	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	1.125000	0.31332	-0.320000	0.08640	0.455000	0.32223	TAT		0.383	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		44	17	0	0	0	0	44	17				
CDCP1	64866	broad.mit.edu	37	3	45152275	45152275	+	Silent	SNP	G	G	T	rs151241354		TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:45152275G>T	ENST00000296129.1	-	4	848	c.714C>A	c.(712-714)gcC>gcA	p.A238A	CDCP1_ENST00000425231.2_Silent_p.A238A|CDCP1_ENST00000490471.1_5'Flank	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	238						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		CTGGGTAGTTGGCAGACATCA	0.542																																						uc003com.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(712-714)GCC>GCA		CUB domain-containing protein 1 isoform 1							167.0	161.0	163.0					3																	45152275		2203	4300	6503	SO:0001819	synonymous_variant	64866					extracellular region|integral to membrane|plasma membrane		g.chr3:45152275G>T	AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"""CD molecules"""	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.714C>A	3.37:g.45152275G>T						CDCP1_uc003con.2_Silent_p.A238A	p.A238A	NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)	4	849	-			238			Extracellular (Potential).		Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Silent	SNP	ENST00000296129.1	37	c.714C>A	CCDS2727.1																																																																																				0.542	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	NM_022842		10	139	1	0	1.59e-06	1.87e-06	10	139				
DHX30	22907	broad.mit.edu	37	3	47890739	47890739	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:47890739C>T	ENST00000445061.1	+	19	3394	c.2987C>T	c.(2986-2988)tCg>tTg	p.S996L	DHX30_ENST00000457607.1_Missense_Mutation_p.S1024L|DHX30_ENST00000348968.4_Missense_Mutation_p.S968L|MIR1226_ENST00000408658.1_RNA|DHX30_ENST00000446256.2_Missense_Mutation_p.S957L	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	996						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GGGAAGCCCTCGGACTGCACC	0.597																																						uc003cru.2		NA																	0				ovary(2)|skin(2)	4						c.(2986-2988)TCG>TTG		DEAH (Asp-Glu-Ala-His) box polypeptide 30							72.0	75.0	74.0					3																	47890739		2203	4300	6503	SO:0001583	missense	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47890739C>T	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.2987C>T	3.37:g.47890739C>T	ENSP00000405620:p.Ser996Leu					DHX30_uc003crt.2_Missense_Mutation_p.S957L|MIR1226_hsa-mir-1226|MI0006313_5'Flank	p.S996L	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	19	3413	+			996					A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	c.2987C>T	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.532685	0.45073	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.03468	3.93;3.92;3.93;3.92	5.08	4.21	0.49690	.	0.205029	0.43919	D	0.000519	T	0.02727	0.0082	N	0.17082	0.46	0.45822	D	0.998695	P;B	0.34800	0.469;0.255	B;B	0.26864	0.05;0.074	T	0.56703	-0.7935	10	0.59425	D	0.04	.	12.2653	0.54674	0.0:0.9184:0.0:0.0816	.	996;957	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	L	957;996;968;1024	ENSP00000392601:S957L;ENSP00000405620:S996L;ENSP00000343442:S968L;ENSP00000394682:S1024L	ENSP00000343442:S968L	S	+	2	0	DHX30	47865743	0.968000	0.33430	0.976000	0.42696	0.992000	0.81027	3.728000	0.54991	1.135000	0.42183	0.650000	0.86243	TCG		0.597	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		5	54	0	0	0	0	5	54				
BSN	8927	broad.mit.edu	37	3	49690362	49690362	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:49690362G>C	ENST00000296452.4	+	5	3487	c.3373G>C	c.(3373-3375)Gag>Cag	p.E1125Q		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1125					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTCCTGCTCTGAGTACTCACC	0.612																																						uc003cxe.3		NA																	0				ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(3373-3375)GAG>CAG		bassoon protein							69.0	68.0	68.0					3																	49690362		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49690362G>C	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.3373G>C	3.37:g.49690362G>C	ENSP00000296452:p.Glu1125Gln						p.E1125Q	NM_003458	NP_003449	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	3487	+			1125					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.3373G>C	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.061679	0.55432	.	.	ENSG00000164061	ENST00000296452	T	0.30182	1.54	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.58438	0.2122	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.62006	-0.6945	10	0.66056	D	0.02	.	18.8332	0.92150	0.0:0.0:1.0:0.0	.	1125	Q9UPA5	BSN_HUMAN	Q	1125	ENSP00000296452:E1125Q	ENSP00000296452:E1125Q	E	+	1	0	BSN	49665366	1.000000	0.71417	0.968000	0.41197	0.862000	0.49288	9.835000	0.99442	2.468000	0.83385	0.561000	0.74099	GAG		0.612	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		36	27	0	0	0	0	36	27				
PARP3	10039	broad.mit.edu	37	3	51982442	51982442	+	Silent	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:51982442C>T	ENST00000417220.2	+	12	2036	c.1548C>T	c.(1546-1548)ctC>ctT	p.L516L	PARP3_ENST00000486510.1_3'UTR|PARP3_ENST00000431474.1_Silent_p.L516L|PARP3_ENST00000398755.3_Silent_p.L523L			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	516	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|positive regulation of DNA ligation (GO:0051106)|protein ADP-ribosylation (GO:0006471)|protein localization to site of double-strand break (GO:1990166)|regulation of mitotic spindle organization (GO:0060236)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	catalytic activity (GO:0003824)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCGAGTACCTCATCTACCAGG	0.642																																						uc003dby.2		NA																	0				ovary(1)	1						c.(1546-1548)CTC>CTT		poly (ADP-ribose) polymerase family, member 3							72.0	73.0	72.0					3																	51982442		2057	4198	6255	SO:0001819	synonymous_variant	10039				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:51982442C>T	AF083068	CCDS43097.1, CCDS46839.1	3p22.2-p21.1	2010-07-14	2004-08-20	2004-08-26	ENSG00000041880	ENSG00000041880	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	273	protein-coding gene	gene with protein product	"""poly(ADP-ribose) synthetase-3"", ""NAD+ ADP-ribosyltransferase 3"", ""poly(ADP-ribose) polymerase 3"""	607726	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 3"""	ADPRTL3		10329013	Standard	NM_001003931		Approved	ADPRT3, IRT1, hPARP-3, pADPRT-3	uc003dbz.3	Q9Y6F1	OTTHUMG00000156931	ENST00000417220.2:c.1548C>T	3.37:g.51982442C>T						PARP3_uc003dbz.2_Silent_p.L523L	p.L516L	NM_005485	NP_005476	Q9Y6F1	PARP3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	11	1919	+			516			PARP catalytic.		Q8NER9|Q96CG2|Q9UG81	Silent	SNP	ENST00000417220.2	37	c.1548C>T	CCDS43097.1																																																																																				0.642	PARP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348612.2	NM_005485.4		38	15	0	0	0	0	38	15				
SFMBT1	51460	broad.mit.edu	37	3	52945182	52945182	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:52945182C>A	ENST00000394752.3	-	17	2125	c.1743G>T	c.(1741-1743)aaG>aaT	p.K581N	SFMBT1_ENST00000394750.1_Missense_Mutation_p.K581N|SFMBT1_ENST00000358080.2_Missense_Mutation_p.K581N|SFMBT1_ENST00000296295.6_Missense_Mutation_p.K581N	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	581					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|negative regulation of muscle organ development (GO:0048635)|negative regulation of transcription, DNA-templated (GO:0045892)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		CCCGATAACTCTTTCCTTTAT	0.388																																						uc003dgf.2		NA																	0				ovary(1)	1						c.(1741-1743)AAG>AAT		Scm-like with four mbt domains 1							102.0	100.0	100.0					3																	52945182		2203	4300	6503	SO:0001583	missense	51460				regulation of transcription, DNA-dependent	nucleus		g.chr3:52945182C>A	AF168132	CCDS2867.1	3p21.31	2013-01-10			ENSG00000163935	ENSG00000163935		"""Sterile alpha motif (SAM) domain containing"""	20255	protein-coding gene	gene with protein product		607319				10661410	Standard	NM_016329		Approved	RU1, DKFZp434L243, SFMBT	uc003dgh.3	Q9UHJ3	OTTHUMG00000159052	ENST00000394752.3:c.1743G>T	3.37:g.52945182C>A	ENSP00000378235:p.Lys581Asn					SFMBT1_uc010hmr.2_Missense_Mutation_p.K528N|SFMBT1_uc003dgg.2_Missense_Mutation_p.K581N|SFMBT1_uc003dgh.2_Missense_Mutation_p.K581N	p.K581N	NM_001005159	NP_001005159	Q9UHJ3	SMBT1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)	18	2312	-			581					Q402F7|Q96C73|Q9Y4Q9	Missense_Mutation	SNP	ENST00000394752.3	37	c.1743G>T	CCDS2867.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.435493	0.62955	.	.	ENSG00000163935	ENST00000394752;ENST00000358080;ENST00000296295;ENST00000394750	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	5.6	1.29	0.21616	.	0.000000	0.85682	D	0.000000	T	0.66076	0.2753	M	0.66939	2.045	0.58432	D	0.999991	P;D	0.89917	0.851;1.0	P;D	0.97110	0.71;1.0	T	0.63712	-0.6575	10	0.41790	T	0.15	.	11.2969	0.49284	0.0:0.7107:0.0:0.2893	.	581;581	Q9UHJ3-2;Q9UHJ3	.;SMBT1_HUMAN	N	581	ENSP00000378235:K581N;ENSP00000350789:K581N;ENSP00000296295:K581N;ENSP00000378233:K581N	ENSP00000296295:K581N	K	-	3	2	SFMBT1	52920222	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.926000	0.40084	0.326000	0.23384	0.655000	0.94253	AAG		0.388	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353040.3	NM_016329		41	22	1	0	1.62e-14	2.21e-14	41	22				
COL8A1	1295	broad.mit.edu	37	3	99513341	99513341	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:99513341C>A	ENST00000261037.3	+	5	976	c.596C>A	c.(595-597)cCa>cAa	p.P199Q	COL8A1_ENST00000273342.4_Missense_Mutation_p.P199Q	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	199	Triple-helical region (COL1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						CAAGGACCTCCAGGGCCTCAT	0.592																																						uc003dtg.1		NA																	0					0						c.(595-597)CCA>CAA		alpha 1 type VIII collagen precursor							47.0	50.0	49.0					3																	99513341		2203	4300	6503	SO:0001583	missense	1295				angiogenesis|cell adhesion	basement membrane|collagen type VIII		g.chr3:99513341C>A	AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810		"""Collagens"""	2215	protein-coding gene	gene with protein product		120251	"""chromosome 3 open reading frame 7"""	C3orf7		2029894	Standard	NM_001850		Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.596C>A	3.37:g.99513341C>A	ENSP00000261037:p.Pro199Gln					COL8A1_uc003dth.1_Missense_Mutation_p.P199Q|COL8A1_uc003dti.1_Missense_Mutation_p.P200Q	p.P199Q	NM_001850	NP_001841	P27658	CO8A1_HUMAN			5	841	+			199			Triple-helical region (COL1).		D3DN42|Q53XI6|Q96D07	Missense_Mutation	SNP	ENST00000261037.3	37	c.596C>A	CCDS2934.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.845945	0.51164	.	.	ENSG00000144810	ENST00000261037;ENST00000273342	D;D	0.96716	-4.1;-4.1	5.37	5.37	0.77165	.	0.053322	0.85682	D	0.000000	D	0.97411	0.9153	M	0.62088	1.915	0.58432	D	0.999999	D;D	0.69078	0.997;0.997	D;D	0.65443	0.935;0.935	D	0.97827	1.0260	10	0.62326	D	0.03	.	16.5979	0.84801	0.0:1.0:0.0:0.0	.	200;199	E7EPK9;P27658	.;CO8A1_HUMAN	Q	199	ENSP00000261037:P199Q;ENSP00000273342:P199Q	ENSP00000261037:P199Q	P	+	2	0	COL8A1	100996031	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.086000	0.71352	2.511000	0.84671	0.655000	0.94253	CCA		0.592	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309001.1	NM_001850		23	27	1	0	2.28e-05	2.58e-05	23	27				
ABI3BP	25890	broad.mit.edu	37	3	100621495	100621495	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:100621495C>A	ENST00000284322.5	-	3	425	c.316G>T	c.(316-318)Gct>Tct	p.A106S	ABI3BP_ENST00000495063.1_Missense_Mutation_p.A106S|ABI3BP_ENST00000532144.1_5'UTR|ABI3BP_ENST00000471714.1_Missense_Mutation_p.A106S	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	106					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						GGAGGTGGAGCAGGTCGCACA	0.398																																						uc003dun.2		NA																	0				ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4						c.(316-318)GCT>TCT		ABI gene family, member 3 (NESH) binding protein							87.0	84.0	85.0					3																	100621495		1905	4147	6052	SO:0001583	missense	25890					extracellular space		g.chr3:100621495C>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.316G>T	3.37:g.100621495C>A	ENSP00000284322:p.Ala106Ser					ABI3BP_uc003duo.2_Missense_Mutation_p.A99S|ABI3BP_uc003dup.3_Missense_Mutation_p.A99S	p.A106S	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN			3	401	-			106					B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	c.316G>T	CCDS46880.1	.	.	.	.	.	.	.	.	.	.	C	19.12	3.765122	0.69878	.	.	ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000495063;ENST00000527258;ENST00000530539	T;T;T	0.24350	2.13;1.86;2.45	5.79	5.79	0.91817	.	0.347798	0.34777	N	0.003684	T	0.19366	0.0465	N	0.19112	0.55	0.41624	D	0.988985	P;P;P	0.51791	0.813;0.906;0.948	B;P;P	0.46543	0.276;0.52;0.516	T	0.01345	-1.1379	10	0.33940	T	0.23	-5.6607	8.9701	0.35901	0.0:0.8433:0.0:0.1567	.	99;106;106	Q9H717;Q5JPC9;Q7Z7G0	.;.;TARSH_HUMAN	S	106;106;106;25;46	ENSP00000420524:A106S;ENSP00000284322:A106S;ENSP00000436918:A46S	ENSP00000284322:A106S	A	-	1	0	ABI3BP	102104185	0.480000	0.25933	0.986000	0.45419	0.998000	0.95712	2.293000	0.43558	2.739000	0.93911	0.655000	0.94253	GCT		0.398	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			17	27	1	0	2.71e-06	3.16e-06	17	27				
CFAP44	55779	broad.mit.edu	37	3	113099870	113099870	+	Missense_Mutation	SNP	T	T	C	rs199927736		TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:113099870T>C	ENST00000295868.2	-	16	2090	c.1928A>G	c.(1927-1929)tAt>tGt	p.Y643C	WDR52_ENST00000393845.2_Missense_Mutation_p.Y643C|WDR52_ENST00000475568.1_5'UTR	NM_018338.3	NP_060808.2														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						TTCAAGAATATAGCCATTTTC	0.299																																						uc003eae.1		NA																	0				central_nervous_system(1)	1						c.(1927-1929)TAT>TGT		WD repeat domain 52 isoform 2							83.0	81.0	82.0					3																	113099870		2201	4298	6499	SO:0001583	missense	55779							g.chr3:113099870T>C																												ENST00000295868.2:c.1928A>G	3.37:g.113099870T>C	ENSP00000295868:p.Tyr643Cys						p.Y643C	NM_018338	NP_060808	Q96MT7	WDR52_HUMAN			16	1974	-			643						Missense_Mutation	SNP	ENST00000295868.2	37	c.1928A>G	CCDS2972.1	.	.	.	.	.	.	.	.	.	.	T	15.05	2.717054	0.48622	.	.	ENSG00000206530	ENST00000393845;ENST00000295868	T;T	0.17213	2.29;2.29	5.32	4.15	0.48705	WD40 repeat-like-containing domain (2);	.	.	.	.	T	0.25568	0.0622	L	0.47716	1.5	0.80722	D	1	D	0.69078	0.997	P	0.55824	0.785	T	0.00899	-1.1522	9	0.48119	T	0.1	.	9.5992	0.39593	0.3945:0.0:0.0:0.6054	.	643	Q96MT7	WDR52_HUMAN	C	643	ENSP00000377428:Y643C;ENSP00000295868:Y643C	ENSP00000295868:Y643C	Y	-	2	0	WDR52	114582560	0.960000	0.32886	0.996000	0.52242	0.958000	0.62258	1.619000	0.36965	0.951000	0.37770	0.455000	0.32223	TAT		0.299	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3			30	47	0	0	0	0	30	47				
HCLS1	3059	broad.mit.edu	37	3	121352001	121352001	+	Silent	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:121352001C>A	ENST00000314583.3	-	11	1012	c.921G>T	c.(919-921)ggG>ggT	p.G307G	HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Silent_p.G270G	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	307					actin filament polymerization (GO:0030041)|cellular response to cytokine stimulus (GO:0071345)|erythrocyte differentiation (GO:0030218)|intracellular signal transduction (GO:0035556)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell proliferation (GO:0008284)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of macrophage differentiation (GO:0045651)|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 transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|regulation of actin filament polymerization (GO:0030833)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein kinase binding (GO:0019901)|RNA polymerase II transcription factor binding (GO:0001085)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		ATGGAGGAGTCCCAACTGGAG	0.517																																						uc003eeh.3		NA																	0					0						c.(919-921)GGG>GGT		hematopoietic cell-specific Lyn substrate 1							36.0	35.0	35.0					3																	121352001		2203	4300	6503	SO:0001819	synonymous_variant	3059				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:121352001C>A		CCDS3003.1	3q13	2007-08-03			ENSG00000180353	ENSG00000180353			4844	protein-coding gene	gene with protein product	"""cortactin-like"""	601306				8978766, 15710041	Standard	NM_001292041		Approved	HS1, CTTNL	uc003eeh.4	P14317	OTTHUMG00000159409	ENST00000314583.3:c.921G>T	3.37:g.121352001C>A						HCLS1_uc011bjj.1_Silent_p.G270G|HCLS1_uc011bjk.1_RNA	p.G307G	NM_005335	NP_005326	P14317	HCLS1_HUMAN		GBM - Glioblastoma multiforme(114;0.0912)	11	1046	-			307					B4DQ69|Q53Y93|Q6IBK9|Q9UDK0	Silent	SNP	ENST00000314583.3	37	c.921G>T	CCDS3003.1																																																																																				0.517	HCLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355144.1	NM_005335		8	5	1	0	0.00307968	0.00328896	8	5				
PARP9	83666	broad.mit.edu	37	3	122277281	122277281	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:122277281C>A	ENST00000360356.2	-	3	276	c.49G>T	c.(49-51)Ggt>Tgt	p.G17C	PARP9_ENST00000471785.1_Splice_Site_p.E17*|PARP9_ENST00000492382.1_Splice_Site_p.D17Y|PARP9_ENST00000462315.1_Splice_Site_p.E17*|PARP9_ENST00000477522.2_Splice_Site_p.E17*	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	17					cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		GTAATCCTACCTGATTTTTCA	0.423																																						uc010hri.2		NA																	0				ovary(1)|pancreas(1)|prostate(1)|skin(1)	4						c.(49-51)GGT>TGT		poly (ADP-ribose) polymerase family, member 9							115.0	112.0	113.0					3																	122277281		2203	4300	6503	SO:0001583	missense	83666				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:122277281C>A	AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"""Poly (ADP-ribose) polymerases"""	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.49G>T	3.37:g.122277281C>A	ENSP00000353512:p.Gly17Cys					PARP9_uc003eff.3_Nonsense_Mutation_p.E17*|PARP9_uc011bjs.1_Nonsense_Mutation_p.E17*|PARP9_uc003efg.2_Missense_Mutation_p.D17Y|PARP9_uc003efi.2_Nonsense_Mutation_p.E17*|PARP9_uc003efh.2_Missense_Mutation_p.G17C|PARP9_uc003efj.2_Nonsense_Mutation_p.E17*	p.G17C	NM_001146102	NP_001139574	Q8IXQ6	PARP9_HUMAN		GBM - Glioblastoma multiforme(114;0.0519)	3	194	-			17					A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Missense_Mutation	SNP	ENST00000360356.2	37	c.49G>T	CCDS3014.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	34|34|34	5.323970|5.323970|5.323970	0.95708|0.95708|0.95708	.|.|.	.|.|.	ENSG00000138496|ENSG00000138496|ENSG00000138496	ENST00000492382|ENST00000477522;ENST00000471785;ENST00000462315|ENST00000360356	T|.|T	0.13089|.|0.10099	2.62|.|2.91	4.56|4.56|4.56	3.68|3.68|3.68	0.42216|0.42216|0.42216	.|.|.	.|.|0.000000	.|.|0.47455	.|.|D	.|.|0.000237	T|.|T	0.13157|.|0.13157	0.0319|.|0.0319	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	D|.|P	0.55385|.|0.43633	0.971|.|0.813	P|.|B	0.45037|.|0.43413	0.467|.|0.419	T|.|T	0.16188|.|0.16188	-1.0411|.|-1.0411	7|.|8	0.87932|0.37606|0.87932	D|T|D	0|0.19|0	.|.|.	10.1982|10.1982|10.1982	0.43067|0.43067|0.43067	0.1981:0.8019:0.0:0.0|0.1981:0.8019:0.0:0.0|0.1981:0.8019:0.0:0.0	.|.|.	17|.|17	G5E9U8|.|Q8IXQ6	.|.|PARP9_HUMAN	Y|X|C	17|17|17	ENSP00000417664:D17Y|.|ENSP00000353512:G17C	ENSP00000417664:D17Y|ENSP00000418894:E17X|ENSP00000353512:G17C	D|E|G	-|-|-	1|1|1	0|0|0	PARP9|PARP9|PARP9	123759971|123759971|123759971	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.866000|0.866000|0.866000	0.49608|0.49608|0.49608	1.582000|1.582000|1.582000	0.36568|0.36568|0.36568	1.514000|1.514000|1.514000	0.48869|0.48869|0.48869	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GAT|GAG|GGT		0.423	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355957.1	NM_031458		40	42	1	0	1.07e-22	1.58e-22	40	42				
KIAA1257	57501	broad.mit.edu	37	3	128695838	128695838	+	Missense_Mutation	SNP	C	C	T	rs368155872		TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:128695838C>T	ENST00000265068.5	-	6	1047	c.880G>A	c.(880-882)Gat>Aat	p.D294N	KIAA1257_ENST00000515659.1_Missense_Mutation_p.D182N|KIAA1257_ENST00000510149.1_5'Flank|KIAA1257_ENST00000511438.1_Missense_Mutation_p.D294N	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	294										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						GTGGAAGAATCGTCCATTTTG	0.443													C|||	1	0.000199681	0.0	0.0	5008	,	,		20118	0.0		0.0	False		,,,				2504	0.001					uc003elj.3		NA																	0					0						c.(880-882)GAT>AAT		hypothetical protein LOC57501		C	ASN/ASP	0,3776		0,0,1888	116.0	111.0	112.0		880	3.6	0.0	3		112	1,8217		0,1,4108	no	missense	KIAA1257	NM_020741.2	23	0,1,5996	TT,TC,CC		0.0122,0.0,0.0083	possibly-damaging	294/410	128695838	1,11993	1888	4109	5997	SO:0001583	missense	57501							g.chr3:128695838C>T	AB033083	CCDS46905.1	3q21.3	2011-11-07			ENSG00000114656	ENSG00000114656			29231	protein-coding gene	gene with protein product						10574462	Standard	NM_020741		Approved		uc003elj.4	Q9ULG3	OTTHUMG00000159946	ENST00000265068.5:c.880G>A	3.37:g.128695838C>T	ENSP00000265068:p.Asp294Asn					KIAA1257_uc003elg.1_Missense_Mutation_p.D294N|KIAA1257_uc003eli.3_Missense_Mutation_p.D182N	p.D294N	NM_020741	NP_065792	Q9ULG3	K1257_HUMAN			6	1076	-			294					Q8IXY7|Q8N5T4	Missense_Mutation	SNP	ENST00000265068.5	37	c.880G>A	CCDS46905.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377925	0.61735	0.0	1.22E-4	ENSG00000114656	ENST00000511438;ENST00000265068;ENST00000515659	.	.	.	3.63	3.63	0.41609	.	0.159885	0.29410	N	0.012237	T	0.39572	0.1083	N	0.24115	0.695	0.09310	N	1	D;D	0.89917	1.0;1.0	P;P	0.61477	0.889;0.889	T	0.12218	-1.0556	9	0.66056	D	0.02	-13.8507	11.1018	0.48179	0.0:1.0:0.0:0.0	.	294;294	Q9ULG3;D6RH05	K1257_HUMAN;.	N	294;294;182	.	ENSP00000265068:D294N	D	-	1	0	KIAA1257	130178528	0.198000	0.23374	0.006000	0.13384	0.002000	0.02628	2.899000	0.48679	2.327000	0.79052	0.591000	0.81541	GAT		0.443	KIAA1257-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000358430.1	NM_020741		18	21	0	0	0	0	18	21				
DZIP1L	199221	broad.mit.edu	37	3	137822454	137822454	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:137822454G>A	ENST00000327532.2	-	2	722	c.360C>T	c.(358-360)ggC>ggT	p.G120G	DZIP1L_ENST00000469243.1_Silent_p.G120G	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	120					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						GCTGCTGCTGGCCCAGGCTGG	0.662																																						uc003erq.2		NA																	0				ovary(1)|pancreas(1)	2						c.(358-360)GGC>GGT		DAZ interacting protein 1-like							20.0	17.0	18.0					3																	137822454		2202	4298	6500	SO:0001819	synonymous_variant	199221					intracellular	zinc ion binding	g.chr3:137822454G>A	AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"""DAZ interacting protein 1-like"""			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.360C>T	3.37:g.137822454G>A						DZIP1L_uc003err.1_Silent_p.G120G	p.G120G	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN			2	723	-			120					C9JUG5|Q96M38	Silent	SNP	ENST00000327532.2	37	c.360C>T	CCDS3096.1																																																																																				0.662	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357548.1	NM_173543		10	14	0	0	0	0	10	14				
A4GNT	51146	broad.mit.edu	37	3	137850025	137850025	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:137850025A>T	ENST00000236709.3	-	2	275	c.74T>A	c.(73-75)cTg>cAg	p.L25Q		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	25					carbohydrate metabolic process (GO:0005975)|glycoprotein biosynthetic process (GO:0009101)|negative regulation of epithelial cell proliferation (GO:0050680)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylglucosaminyltransferase activity (GO:0008375)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						GCTGGACTTCAGGGTGAACTG	0.567																																						uc003ers.2		NA																	0				central_nervous_system(1)	1						c.(73-75)CTG>CAG		alpha-1,4-N-acetylglucosaminyltransferase							80.0	80.0	80.0					3																	137850025		2203	4300	6503	SO:0001583	missense	51146				protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity	g.chr3:137850025A>T	AF141315	CCDS3097.1	3p14.3	2010-12-14			ENSG00000118017	ENSG00000118017			17968	protein-coding gene	gene with protein product						10430883	Standard	NM_016161		Approved	alpha4GnT	uc003ers.2	Q9UNA3	OTTHUMG00000159820	ENST00000236709.3:c.74T>A	3.37:g.137850025A>T	ENSP00000236709:p.Leu25Gln						p.L25Q	NM_016161	NP_057245	Q9UNA3	A4GCT_HUMAN			2	276	-			25			Helical; Signal-anchor for type II membrane protein; (Potential).		Q0VDK1|Q0VDK2	Missense_Mutation	SNP	ENST00000236709.3	37	c.74T>A	CCDS3097.1	.	.	.	.	.	.	.	.	.	.	A	11.07	1.529720	0.27387	.	.	ENSG00000118017	ENST00000236709	D	0.84800	-1.9	5.42	3.0	0.34707	.	0.363007	0.19724	N	0.107501	T	0.77267	0.4105	M	0.62723	1.935	0.09310	N	1	P	0.41265	0.744	B	0.35859	0.212	T	0.63821	-0.6550	10	0.21014	T	0.42	-1.5128	5.1457	0.14983	0.6475:0.0:0.075:0.2775	.	25	Q9UNA3	A4GCT_HUMAN	Q	25	ENSP00000236709:L25Q	ENSP00000236709:L25Q	L	-	2	0	A4GNT	139332715	0.005000	0.15991	0.049000	0.19019	0.895000	0.52256	0.989000	0.29629	0.347000	0.23924	0.459000	0.35465	CTG		0.567	A4GNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357557.1	NM_016161		14	21	0	0	0	0	14	21				
PLSCR4	57088	broad.mit.edu	37	3	145917674	145917674	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:145917674G>A	ENST00000354952.2	-	6	790	c.550C>T	c.(550-552)Cga>Tga	p.R184*	PLSCR4_ENST00000493382.1_Nonsense_Mutation_p.R184*|PLSCR4_ENST00000446574.2_Nonsense_Mutation_p.R184*|PLSCR4_ENST00000383083.2_Intron|PLSCR4_ENST00000433593.2_Intron	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	184					cellular response to lipopolysaccharide (GO:0071222)|phospholipid scrambling (GO:0017121)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|enzyme binding (GO:0019899)|phospholipid scramblase activity (GO:0017128)			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						ATGATTTCTCGGCCCATACAA	0.502																																						uc010huy.2		NA																	0					0						c.(550-552)CGA>TGA		phospholipid scramblase 4 isoform a							101.0	96.0	98.0					3																	145917674		2203	4300	6503	SO:0001587	stop_gained	57088				blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding	g.chr3:145917674G>A	AF199023	CCDS3133.1, CCDS54651.1	3q24	2008-07-18			ENSG00000114698	ENSG00000114698			16497	protein-coding gene	gene with protein product		607612				10930526	Standard	NM_020353		Approved		uc003evt.4	Q9NRQ2	OTTHUMG00000159415	ENST00000354952.2:c.550C>T	3.37:g.145917674G>A	ENSP00000347038:p.Arg184*					PLSCR4_uc010huz.2_Nonsense_Mutation_p.R184*|PLSCR4_uc003evt.3_Nonsense_Mutation_p.R184*|PLSCR4_uc010hva.2_Intron|PLSCR4_uc003evu.3_Intron	p.R184*	NM_001128305	NP_001121777	Q9NRQ2	PLS4_HUMAN			6	879	-			184			Cytoplasmic (By similarity).		A8K2E9|Q2TTR3|Q658L3|Q6ZR73|Q7Z505	Nonsense_Mutation	SNP	ENST00000354952.2	37	c.550C>T	CCDS3133.1	.	.	.	.	.	.	.	.	.	.	G	36	5.909188	0.97093	.	.	ENSG00000114698	ENST00000354952;ENST00000446574;ENST00000493382;ENST00000460350;ENST00000476202	.	.	.	4.87	2.99	0.34606	.	0.000000	0.50627	D	0.000101	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.575	0.56359	0.0:0.0:0.6651:0.3348	.	.	.	.	X	184	.	ENSP00000347038:R184X	R	-	1	2	PLSCR4	147400364	0.694000	0.27738	0.999000	0.59377	0.918000	0.54935	1.537000	0.36083	0.690000	0.31570	0.655000	0.94253	CGA		0.502	PLSCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355172.1	NM_020353		15	15	0	0	0	0	15	15				
MED12L	116931	broad.mit.edu	37	3	151082807	151082807	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:151082807G>C	ENST00000474524.1	+	20	2931	c.2893G>C	c.(2893-2895)Gtg>Ctg	p.V965L	MED12L_ENST00000273432.4_Missense_Mutation_p.V825L|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	965						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATATAATAACGTGATGCCTGC	0.363																																						uc003eyp.2		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(2893-2895)GTG>CTG		mediator of RNA polymerase II transcription,							160.0	168.0	166.0					3																	151082807		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151082807G>C	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.2893G>C	3.37:g.151082807G>C	ENSP00000417235:p.Val965Leu					MED12L_uc011bnz.1_Missense_Mutation_p.V825L|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.V128L	p.V965L	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		20	2931	+			965					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.2893G>C	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.521931	0.64747	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.79454	-1.27;-1.27	5.6	5.6	0.85130	.	0.058672	0.64402	D	0.000002	T	0.70988	0.3287	N	0.14661	0.345	0.80722	D	1	P;P;P	0.47302	0.553;0.637;0.893	B;B;P	0.45829	0.255;0.099;0.494	T	0.76429	-0.2962	10	0.87932	D	0	-23.8579	19.5844	0.95485	0.0:0.0:1.0:0.0	.	825;964;965	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	L	965;825	ENSP00000417235:V965L;ENSP00000273432:V825L	ENSP00000273432:V825L	V	+	1	0	MED12L	152565497	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	5.900000	0.69853	2.786000	0.95864	0.650000	0.86243	GTG		0.363	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		68	97	0	0	0	0	68	97				
PLCH1	23007	broad.mit.edu	37	3	155218533	155218533	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:155218533G>T	ENST00000340059.7	-	13	1718	c.1719C>A	c.(1717-1719)gaC>gaA	p.D573E	PLCH1_ENST00000494598.1_Missense_Mutation_p.D573E|PLCH1_ENST00000414191.1_Missense_Mutation_p.D555E|PLCH1_ENST00000334686.6_Missense_Mutation_p.D555E|PLCH1_ENST00000460012.1_Missense_Mutation_p.D555E|PLCH1_ENST00000447496.2_Missense_Mutation_p.D573E	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	573					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCTGCTGTGTGTCTTCCTCAT	0.428																																						uc011bok.1		NA																	0				skin(3)|ovary(1)	4						c.(1717-1719)GAC>GAA		phospholipase C eta 1 isoform a							239.0	210.0	220.0					3																	155218533		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155218533G>T	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.1719C>A	3.37:g.155218533G>T	ENSP00000345988:p.Asp573Glu					PLCH1_uc011boj.1_Missense_Mutation_p.D573E|PLCH1_uc011bol.1_Missense_Mutation_p.D555E	p.D573E	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		13	1996	-			573					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.1719C>A	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	G	4.029	0.002991	0.07866	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72	5.81	-7.54	0.01332	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.626341	0.16449	N	0.213933	T	0.15305	0.0369	N	0.08118	0	0.24401	N	0.9947	B;B;B	0.09022	0.002;0.001;0.0	B;B;B	0.12156	0.007;0.002;0.001	T	0.22103	-1.0226	10	0.13470	T	0.59	.	2.7242	0.05209	0.513:0.1488:0.1083:0.2299	.	555;573;573	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	E	573;555;573;573;555;555	ENSP00000419100:D573E;ENSP00000417502:D555E;ENSP00000402759:D573E;ENSP00000345988:D573E;ENSP00000335469:D555E;ENSP00000412977:D555E	ENSP00000335469:D555E	D	-	3	2	PLCH1	156701227	0.000000	0.05858	0.000000	0.03702	0.559000	0.35586	-2.049000	0.01405	-1.251000	0.02494	-1.267000	0.01435	GAC		0.428	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		14	129	1	0	1.57e-10	2.02e-10	14	129				
GMPS	8833	broad.mit.edu	37	3	155632262	155632262	+	Missense_Mutation	SNP	A	A	G	rs377527627		TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:155632262A>G	ENST00000496455.2	+	8	1276	c.941A>G	c.(940-942)gAt>gGt	p.D314G	GMPS_ENST00000295920.7_Missense_Mutation_p.D215G	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	314	GMPS ATP-PPase. {ECO:0000255|PROSITE- ProRule:PRU00886}.				glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|GMP synthase (glutamine-hydrolyzing) activity (GO:0003922)|GMP synthase activity (GO:0003921)|pyrophosphatase activity (GO:0016462)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamine(DB00130)	CCAATATCAGATGAAGATAGA	0.358			T	MLL	AML																																Ovarian(153;896 1876 4149 15499 28134)	uc003faq.2		NA		Dom	yes		3	3q24	8833	T	guanine monphosphate synthetase			L	MLL		AML		0				ovary(2)|lung(1)	3						c.(940-942)GAT>GGT		guanine monophosphate synthetase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	A	GLY/ASP	0,3642		0,0,1821	115.0	106.0	109.0		941	5.9	1.0	3		109	1,8145		0,1,4072	no	missense	GMPS	NM_003875.2	94	0,1,5893	GG,GA,AA		0.0123,0.0,0.0085	benign	314/694	155632262	1,11787	1821	4073	5894	SO:0001583	missense	8833				glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity	g.chr3:155632262A>G	U10860	CCDS46941.1	3q25.31	2013-06-18	2013-06-18		ENSG00000163655	ENSG00000163655	6.3.5.2		4378	protein-coding gene	gene with protein product	"""GMP synthase"""	600358	"""guanine monphosphate synthetase"""			8089153, 9195163	Standard	NM_003875		Approved		uc003faq.3	P49915	OTTHUMG00000158551	ENST00000496455.2:c.941A>G	3.37:g.155632262A>G	ENSP00000419851:p.Asp314Gly					GMPS_uc011bom.1_Missense_Mutation_p.D215G	p.D314G	NM_003875	NP_003866	P49915	GUAA_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		8	1276	+			314					A8K639|B4DXV7|F8W720	Missense_Mutation	SNP	ENST00000496455.2	37	c.941A>G	CCDS46941.1	.	.	.	.	.	.	.	.	.	.	A	15.15	2.748692	0.49257	0.0	1.23E-4	ENSG00000163655	ENST00000496455;ENST00000295920;ENST00000537975;ENST00000541628	.	.	.	5.88	5.88	0.94601	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.109676	0.64402	D	0.000009	T	0.35856	0.0946	N	0.04705	-0.18	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.29181	-1.0020	9	0.10636	T	0.68	-16.7993	16.2792	0.82664	1.0:0.0:0.0:0.0	.	215;314	F8W720;P49915	.;GUAA_HUMAN	G	314;215;263;314	.	ENSP00000295920:D215G	D	+	2	0	GMPS	157114956	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.832000	0.92079	2.243000	0.73865	0.533000	0.62120	GAT		0.358	GMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351260.2			8	84	0	0	0	0	8	84				
VEPH1	79674	broad.mit.edu	37	3	157099093	157099093	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:157099093G>T	ENST00000362010.2	-	7	1286	c.979C>A	c.(979-981)Ctc>Atc	p.L327I	VEPH1_ENST00000392833.2_Missense_Mutation_p.L327I|VEPH1_ENST00000543418.1_Missense_Mutation_p.L327I|VEPH1_ENST00000392832.2_Missense_Mutation_p.L327I|RP11-550I24.2_ENST00000487238.1_RNA	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	327						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TCCAGCAGGAGAATATGGTGA	0.498																																						uc003fbj.1		NA																	0				breast(3)|ovary(1)|lung(1)	5						c.(979-981)CTC>ATC		ventricular zone expressed PH domain homolog 1							127.0	124.0	125.0					3																	157099093		2203	4300	6503	SO:0001583	missense	79674					plasma membrane		g.chr3:157099093G>T	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.979C>A	3.37:g.157099093G>T	ENSP00000354919:p.Leu327Ile					VEPH1_uc003fbk.1_Missense_Mutation_p.L327I|VEPH1_uc010hvu.1_Missense_Mutation_p.L327I	p.L327I	NM_024621	NP_078897	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		7	1296	-			327					D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	ENST00000362010.2	37	c.979C>A	CCDS3179.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.631207	0.67015	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.62085	0.2399	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.991	T	0.63111	-0.6710	10	0.66056	D	0.02	7.5566	18.3449	0.90318	0.0:0.0:1.0:0.0	.	327;327	Q14D04-2;Q14D04	.;MELT_HUMAN	I	327	ENSP00000376578:L327I;ENSP00000354919:L327I;ENSP00000446258:L327I;ENSP00000376577:L327I	ENSP00000354919:L327I	L	-	1	0	VEPH1	158581787	1.000000	0.71417	0.995000	0.50966	0.938000	0.57974	7.286000	0.78671	2.569000	0.86673	0.655000	0.94253	CTC		0.498	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		42	48	1	0	3.43e-23	5.08e-23	42	48				
SI	6476	broad.mit.edu	37	3	164737463	164737463	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:164737463A>T	ENST00000264382.3	-	28	3412	c.3350T>A	c.(3349-3351)gTg>gAg	p.V1117E		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1117	Sucrase.				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)	TGTATGTTCCACTTCCCCAAA	0.438										HNSCC(35;0.089)																												uc003fei.2		NA																	0				ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(3349-3351)GTG>GAG		sucrase-isomaltase	Acarbose(DB00284)						128.0	121.0	124.0					3																	164737463		2203	4300	6503	SO:0001583	missense	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.chr3:164737463A>T	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.3350T>A	3.37:g.164737463A>T	ENSP00000264382:p.Val1117Glu	HNSCC(35;0.089)					p.V1117E	NM_001041	NP_001032	P14410	SUIS_HUMAN			28	3412	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1117			Sucrase.|Lumenal.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.3350T>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	A	13.61	2.289699	0.40494	.	.	ENSG00000090402	ENST00000264382	D	0.88277	-2.36	4.57	-2.46	0.06461	Glycoside hydrolase-type carbohydrate-binding (1);	0.673378	0.14184	N	0.335816	D	0.83871	0.5348	M	0.62016	1.91	0.24192	N	0.995546	B	0.26318	0.146	B	0.26614	0.071	T	0.66921	-0.5801	10	0.11485	T	0.65	.	12.7177	0.57123	0.3501:0.0:0.6499:0.0	.	1117	P14410	SUIS_HUMAN	E	1117	ENSP00000264382:V1117E	ENSP00000264382:V1117E	V	-	2	0	SI	166220157	0.000000	0.05858	0.329000	0.25429	0.992000	0.81027	-1.628000	0.02031	-0.638000	0.05509	0.482000	0.46254	GTG		0.438	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		19	76	0	0	0	0	19	76				
SI	6476	broad.mit.edu	37	3	164750444	164750444	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:164750444G>T	ENST00000264382.3	-	24	2664	c.2602C>A	c.(2602-2604)Cag>Aag	p.Q868K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	868	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)	GTTCCTTCCTGATATGATGAA	0.343										HNSCC(35;0.089)																												uc003fei.2		NA																	0				ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(2602-2604)CAG>AAG		sucrase-isomaltase	Acarbose(DB00284)						130.0	119.0	123.0					3																	164750444		2202	4299	6501	SO:0001583	missense	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.chr3:164750444G>T	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.2602C>A	3.37:g.164750444G>T	ENSP00000264382:p.Gln868Lys	HNSCC(35;0.089)					p.Q868K	NM_001041	NP_001032	P14410	SUIS_HUMAN			24	2664	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	868			Lumenal.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.2602C>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	1.318	-0.600236	0.03744	.	.	ENSG00000090402	ENST00000264382	D	0.88201	-2.35	4.88	-0.451	0.12214	.	2.025370	0.01810	N	0.033416	T	0.77377	0.4121	N	0.17474	0.49	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.66972	-0.5788	10	0.05959	T	0.93	.	5.7939	0.18375	0.08:0.3189:0.4844:0.1167	.	868	P14410	SUIS_HUMAN	K	868	ENSP00000264382:Q868K	ENSP00000264382:Q868K	Q	-	1	0	SI	166233138	0.036000	0.19791	0.001000	0.08648	0.397000	0.30659	0.041000	0.13927	-0.202000	0.10268	0.655000	0.94253	CAG		0.343	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		16	21	1	0	2.35e-11	3.07e-11	16	21				
HTR3C	170572	broad.mit.edu	37	3	183776222	183776222	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:183776222C>A	ENST00000318351.1	+	6	601	c.567C>A	c.(565-567)agC>agA	p.S189R		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	189					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	CAGTGGACAGCATGCTGCTGG	0.567																																						uc003fmk.2		NA																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(565-567)AGC>AGA		5-hydroxytryptamine receptor 3 subunit C							74.0	63.0	67.0					3																	183776222		2203	4300	6503	SO:0001583	missense	170572					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183776222C>A	AF459285	CCDS3250.1	3q27	2012-05-22	2012-02-03		ENSG00000178084	ENSG00000178084		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24003	protein-coding gene	gene with protein product		610121	"""5-hydroxytryptamine (serotonin) receptor 3, family member C"""			12801637, 15157181	Standard	NM_130770		Approved		uc003fmk.3	Q8WXA8	OTTHUMG00000156862	ENST00000318351.1:c.567C>A	3.37:g.183776222C>A	ENSP00000322617:p.Ser189Arg						p.S189R	NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		6	601	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		189			Extracellular (Potential).		A2RRR5	Missense_Mutation	SNP	ENST00000318351.1	37	c.567C>A	CCDS3250.1	.	.	.	.	.	.	.	.	.	.	.	8.449	0.852631	0.17106	.	.	ENSG00000178084	ENST00000318351	T	0.79033	-1.23	5.26	4.38	0.52667	Neurotransmitter-gated ion-channel ligand-binding (3);	0.850065	0.11045	N	0.605675	T	0.71921	0.3397	L	0.47716	1.5	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.61173	-0.7116	10	0.42905	T	0.14	-5.6145	11.2315	0.48914	0.1819:0.8181:0.0:0.0	.	189	Q8WXA8	5HT3C_HUMAN	R	189	ENSP00000322617:S189R	ENSP00000322617:S189R	S	+	3	2	HTR3C	185258916	0.028000	0.19301	0.029000	0.17559	0.337000	0.28794	2.198000	0.42705	1.439000	0.47511	0.655000	0.94253	AGC		0.567	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346296.1	NM_130770		6	90	1	0	0.00198382	0.00212623	6	90				
HTR3C	170572	broad.mit.edu	37	3	183776244	183776244	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:183776244G>A	ENST00000318351.1	+	6	623	c.589G>A	c.(589-591)Gag>Aag	p.E197K		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	197					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	CATGGACAAGGAGGTGTGGGA	0.582																																						uc003fmk.2		NA																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(589-591)GAG>AAG		5-hydroxytryptamine receptor 3 subunit C							95.0	80.0	85.0					3																	183776244		2203	4300	6503	SO:0001583	missense	170572					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183776244G>A	AF459285	CCDS3250.1	3q27	2012-05-22	2012-02-03		ENSG00000178084	ENSG00000178084		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24003	protein-coding gene	gene with protein product		610121	"""5-hydroxytryptamine (serotonin) receptor 3, family member C"""			12801637, 15157181	Standard	NM_130770		Approved		uc003fmk.3	Q8WXA8	OTTHUMG00000156862	ENST00000318351.1:c.589G>A	3.37:g.183776244G>A	ENSP00000322617:p.Glu197Lys						p.E197K	NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		6	623	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		197			Extracellular (Potential).		A2RRR5	Missense_Mutation	SNP	ENST00000318351.1	37	c.589G>A	CCDS3250.1	.	.	.	.	.	.	.	.	.	.	.	14.71	2.615257	0.46631	.	.	ENSG00000178084	ENST00000318351	T	0.78481	-1.18	5.26	5.26	0.73747	Neurotransmitter-gated ion-channel ligand-binding (3);	0.391241	0.28828	N	0.014007	T	0.70979	0.3286	L	0.44542	1.39	0.26055	N	0.981427	B	0.12630	0.006	B	0.18871	0.023	T	0.59862	-0.7374	10	0.34782	T	0.22	-8.5905	14.2414	0.65959	0.0:0.0:1.0:0.0	.	197	Q8WXA8	5HT3C_HUMAN	K	197	ENSP00000322617:E197K	ENSP00000322617:E197K	E	+	1	0	HTR3C	185258938	1.000000	0.71417	0.999000	0.59377	0.951000	0.60555	2.268000	0.43338	2.732000	0.93576	0.655000	0.94253	GAG		0.582	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346296.1	NM_130770		9	108	0	0	0	0	9	108				
MASP1	5648	broad.mit.edu	37	3	186944202	186944202	+	Silent	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:186944202G>T	ENST00000337774.5	-	12	1937	c.1548C>A	c.(1546-1548)atC>atA	p.I516I		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	516	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CACCCAGGATGATTTTGAAGT	0.567																																						uc003frh.1		NA																	0				ovary(2)|breast(1)|liver(1)	4						c.(1546-1548)ATC>ATA		mannan-binding lectin serine protease 1 isoform							116.0	96.0	103.0					3																	186944202		2203	4300	6503	SO:0001819	synonymous_variant	5648				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	g.chr3:186944202G>T	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1548C>A	3.37:g.186944202G>T							p.I516I	NM_001879	NP_001870	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	12	1880	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		516			Peptidase S1.		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Silent	SNP	ENST00000337774.5	37	c.1548C>A	CCDS33907.1																																																																																				0.567	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		6	21	1	0	5.94e-07	7.05e-07	6	21				
ATP13A5	344905	broad.mit.edu	37	3	193042775	193042775	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:193042775C>A	ENST00000342358.4	-	14	1669	c.1552G>T	c.(1552-1554)Ggc>Tgc	p.G518C		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	518						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		ACAGCCTGGCCTGAGGCAAAG	0.502																																						uc011bsq.1		NA																	0				ovary(5)|skin(4)|large_intestine(2)	11						c.(1552-1554)GGC>TGC		ATPase type 13A5							83.0	90.0	88.0					3																	193042775		2203	4300	6503	SO:0001583	missense	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193042775C>A	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.1552G>T	3.37:g.193042775C>A	ENSP00000341942:p.Gly518Cys						p.G518C	NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	14	1552	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		518					Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	c.1552G>T	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.668641	0.29604	.	.	ENSG00000187527	ENST00000342358	T	0.70164	-0.46	5.67	5.67	0.87782	ATPase, cation-transporting, domain N (1);HAD-like domain (1);	0.166245	0.43260	D	0.000597	T	0.80529	0.4640	M	0.77486	2.375	0.18873	N	0.999983	D	0.71674	0.998	D	0.73708	0.981	T	0.73802	-0.3868	10	0.52906	T	0.07	-4.4896	12.6996	0.57024	0.0:0.9205:0.0:0.0795	.	518	Q4VNC0	AT135_HUMAN	C	518	ENSP00000341942:G518C	ENSP00000341942:G518C	G	-	1	0	ATP13A5	194525469	0.019000	0.18553	0.069000	0.20011	0.067000	0.16453	1.762000	0.38451	2.659000	0.90383	0.655000	0.94253	GGC		0.502	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		36	284	1	0	2.42e-17	3.37e-17	36	284				
ATP13A3	79572	broad.mit.edu	37	3	194149602	194149602	+	Silent	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:194149602C>T	ENST00000439040.1	-	28	3710	c.2919G>A	c.(2917-2919)ctG>ctA	p.L973L	ATP13A3_ENST00000256031.4_Silent_p.L973L			Q9H7F0	AT133_HUMAN	ATPase type 13A3	973						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		AAATGATTGCCAGATCAATGA	0.274																																						uc003fty.3		NA																	0				ovary(1)	1						c.(2917-2919)CTG>CTA		ATPase type 13A3							59.0	56.0	57.0					3																	194149602		1807	4067	5874	SO:0001819	synonymous_variant	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194149602C>T	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.2919G>A	3.37:g.194149602C>T							p.L973L	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	27	3321	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	973			Helical; (Potential).		Q8NC11|Q96KS1	Silent	SNP	ENST00000439040.1	37	c.2919G>A	CCDS43187.1																																																																																				0.274	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		12	94	0	0	0	0	12	94				
TMEM44	93109	broad.mit.edu	37	3	194344010	194344010	+	Silent	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:194344010C>A	ENST00000392432.2	-	5	760	c.555G>T	c.(553-555)ctG>ctT	p.L185L	TMEM44_ENST00000473092.1_Silent_p.L185L|TMEM44_ENST00000347147.4_Silent_p.L185L|TMEM44_ENST00000273580.7_Silent_p.L185L|TMEM44_ENST00000330115.3_Silent_p.L82L|TMEM44_ENST00000381975.3_Silent_p.L185L	NM_001166305.1	NP_001159777.1	Q2T9K0	TMM44_HUMAN	transmembrane protein 44	185						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		CAACGCTACCCAGCAGGTAGC	0.572																																						uc010hzn.2		NA																	0					0						c.(553-555)CTG>CTT		transmembrane protein 44 isoform b							56.0	47.0	50.0					3																	194344010		2202	4299	6501	SO:0001819	synonymous_variant	93109					integral to membrane		g.chr3:194344010C>A	AL833026	CCDS3308.1, CCDS33921.1, CCDS3308.2, CCDS54698.1, CCDS54699.1	3q29	2005-08-16			ENSG00000145014	ENSG00000145014			25120	protein-coding gene	gene with protein product							Standard	NM_138399		Approved	DKFZp686O18124	uc010hzn.3	Q2T9K0	OTTHUMG00000156023	ENST00000392432.2:c.555G>T	3.37:g.194344010C>A						TMEM44_uc003fue.2_Silent_p.L185L|TMEM44_uc003fud.2_Silent_p.L185L|TMEM44_uc003fuf.2_Silent_p.L185L|TMEM44_uc011bsv.1_Silent_p.L185L|TMEM44_uc003fuh.1_RNA	p.L185L	NM_001011655	NP_001011655	Q2T9K0	TMM44_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)	5	724	-	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		185			Helical; (Potential).		A1L3V7|B7ZLZ5|B7ZLZ6|C9JJ62|E9PGA9|Q0P6F7|Q6ZT47|Q8IXR1|Q8N4G3	Silent	SNP	ENST00000392432.2	37	c.555G>T	CCDS54699.1																																																																																				0.572	TMEM44-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000342750.1	NM_138399		28	17	1	0	4.15e-07	4.95e-07	28	17				
MUC4	4585	broad.mit.edu	37	3	195479980	195479980	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:195479980G>A	ENST00000346145.4	-	19	2781	c.2742C>T	c.(2740-2742)gcC>gcT	p.A914A	MUC4_ENST00000463781.3_Silent_p.A5150A|MUC4_ENST00000349607.4_Silent_p.A863A|MUC4_ENST00000475231.1_Silent_p.A5098A	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1907	Ser-rich.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGTCAGTGAAGGCTGGGGGGC	0.592																																						uc011bto.1		NA																	0					0						c.(15064-15066)GCC>GCT		mucin 4 isoform a							112.0	106.0	108.0					3																	195479980		2203	4300	6503	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195479980G>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.2742C>T	3.37:g.195479980G>A						MUC4_uc010hzq.2_Silent_p.A7A|MUC4_uc003fuz.2_Silent_p.A748A|MUC4_uc003fva.2_Silent_p.A630A|MUC4_uc003fvb.2_Silent_p.A666A|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Silent_p.A666A|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Silent_p.A630A|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Silent_p.A714A|MUC4_uc011bti.1_Silent_p.A714A|MUC4_uc011btj.1_Silent_p.A891A|MUC4_uc011btk.1_Silent_p.A630A|MUC4_uc011btl.1_Silent_p.A659A|MUC4_uc011btm.1_Silent_p.A839A|MUC4_uc011btn.1_Silent_p.A630A|MUC4_uc003fvo.2_Silent_p.A914A|MUC4_uc003fvp.2_Silent_p.A863A	p.A5022A	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	21	15526	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1907			EGF-like 1.		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000346145.4	37	c.15066C>T	CCDS3310.1																																																																																				0.592	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406		77	191	0	0	0	0	77	191				
LMLN	89782	broad.mit.edu	37	3	197707351	197707351	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:197707351G>A	ENST00000330198.4	+	6	726	c.704G>A	c.(703-705)tGt>tAt	p.C235Y	LMLN_ENST00000482695.1_Missense_Mutation_p.C183Y|LMLN_ENST00000420910.2_Missense_Mutation_p.C235Y|LMLN_ENST00000332636.5_Missense_Mutation_p.C183Y	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	235					cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		GCAGCCTATTGTCAGCAGGAA	0.433																																						uc011buo.1		NA																	0				skin(1)	1						c.(703-705)TGT>TAT		leishmanolysin-like isoform 2							141.0	134.0	136.0					3																	197707351		2203	4300	6503	SO:0001583	missense	89782				cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding	g.chr3:197707351G>A	AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.704G>A	3.37:g.197707351G>A	ENSP00000328829:p.Cys235Tyr					LMLN_uc003fyt.2_Missense_Mutation_p.C183Y|LMLN_uc010iar.2_Missense_Mutation_p.C235Y|LMLN_uc010ias.2_Missense_Mutation_p.C183Y|LMLN_uc003fyu.2_5'UTR	p.C235Y	NM_033029	NP_149018	Q96KR4	LMLN_HUMAN	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)	6	726	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	235					B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Missense_Mutation	SNP	ENST00000330198.4	37	c.704G>A	CCDS3332.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.444138	0.83993	.	.	ENSG00000185621	ENST00000482695;ENST00000330198;ENST00000420910;ENST00000332636	D;D;D;D	0.94138	-3.36;-3.36;-3.36;-3.36	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	D	0.97476	0.9174	M	0.94101	3.495	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	D	0.98179	1.0456	10	0.87932	D	0	-25.4762	15.8519	0.78940	0.0:0.0:1.0:0.0	.	235;183;235;183	Q96KR4;F8WCE5;F8WB28;Q96KR4-2	LMLN_HUMAN;.;.;.	Y	183;235;235;183	ENSP00000418324:C183Y;ENSP00000328829:C235Y;ENSP00000410926:C235Y;ENSP00000328611:C183Y	ENSP00000328829:C235Y	C	+	2	0	LMLN	199191748	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.990000	0.76225	2.690000	0.91761	0.644000	0.83932	TGT		0.433	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339701.1	NM_033029		13	277	0	0	0	0	13	277				
CWH43	80157	broad.mit.edu	37	4	49000563	49000563	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr4:49000563C>T	ENST00000226432.4	+	6	983	c.800C>T	c.(799-801)aCa>aTa	p.T267I	CWH43_ENST00000513409.1_Missense_Mutation_p.T240I	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	267					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TGGTGGGTTACAGGTATGTGG	0.453																																						uc003gyv.2		NA																	0				skin(2)|ovary(1)	3						c.(799-801)ACA>ATA		cell wall biogenesis 43 C-terminal homolog							475.0	370.0	406.0					4																	49000563		2203	4300	6503	SO:0001583	missense	80157				GPI anchor biosynthetic process	integral to membrane		g.chr4:49000563C>T		CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.800C>T	4.37:g.49000563C>T	ENSP00000226432:p.Thr267Ile					CWH43_uc011bzl.1_Missense_Mutation_p.T240I	p.T267I	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN			6	982	+			267					B2RPD7	Missense_Mutation	SNP	ENST00000226432.4	37	c.800C>T	CCDS3486.1	.	.	.	.	.	.	.	.	.	.	C	6.273	0.418395	0.11870	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	T;T	0.39056	1.68;1.1	4.16	4.16	0.48862	.	0.101732	0.43260	D	0.000593	T	0.29716	0.0742	L	0.36672	1.1	0.35046	D	0.760166	B	0.06786	0.001	B	0.08055	0.003	T	0.25433	-1.0132	9	.	.	.	.	9.6057	0.39632	0.0:0.8936:0.0:0.1064	.	267	Q9H720	PG2IP_HUMAN	I	267;240	ENSP00000226432:T267I;ENSP00000422802:T240I	.	T	+	2	0	CWH43	48695320	0.841000	0.29509	0.996000	0.52242	0.403000	0.30841	0.632000	0.24583	2.618000	0.88619	0.591000	0.81541	ACA		0.453	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	NM_025087		48	20	0	0	0	0	48	20				
EXOC1	55763	broad.mit.edu	37	4	56744196	56744196	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr4:56744196G>A	ENST00000381295.2	+	9	1536	c.1188G>A	c.(1186-1188)aaG>aaA	p.K396K	EXOC1_ENST00000349598.6_Silent_p.K396K|EXOC1_ENST00000346134.7_Silent_p.K396K	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	396					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					AGTGGCTAAAGAGTACAGATT	0.383																																						uc003hbe.1		NA																	0				ovary(2)|skin(2)|lung(1)|central_nervous_system(1)	6						c.(1186-1188)AAG>AAA		exocyst complex component 1 isoform 1							144.0	137.0	139.0					4																	56744196		2203	4300	6503	SO:0001819	synonymous_variant	55763				exocytosis|protein transport	exocyst	protein binding	g.chr4:56744196G>A	AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"""SEC3-like 1 (S. cerevisiae)"""	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.1188G>A	4.37:g.56744196G>A						EXOC1_uc003hbf.1_Silent_p.K396K|EXOC1_uc003hbg.1_Silent_p.K396K	p.K396K	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN			9	1346	+	Glioma(25;0.08)|all_neural(26;0.101)		396					Q504V4|Q8WUE7|Q96T15|Q9NZE4	Silent	SNP	ENST00000381295.2	37	c.1188G>A	CCDS3502.1																																																																																				0.383	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261		46	31	0	0	0	0	46	31				
NUP54	53371	broad.mit.edu	37	4	77039260	77039260	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr4:77039260G>A	ENST00000264883.3	-	10	1392	c.1252C>T	c.(1252-1254)Cag>Tag	p.Q418*	NUP54_ENST00000342467.6_Nonsense_Mutation_p.Q202*|NUP54_ENST00000458189.2_Nonsense_Mutation_p.Q238*|NUP54_ENST00000514987.1_Nonsense_Mutation_p.Q370*	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	418	9 X 2 AA repeats of F-G.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein targeting (GO:0006605)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nucleocytoplasmic transporter activity (GO:0005487)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						AGTTCACCCTGAATCGTATCC	0.383																																						uc003hjs.2		NA																	0				ovary(1)|lung(1)	2						c.(1252-1254)CAG>TAG		nucleoporin 54kDa							159.0	144.0	149.0					4																	77039260		2203	4300	6503	SO:0001587	stop_gained	53371				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm		g.chr4:77039260G>A	AF157322	CCDS3576.1, CCDS63998.1	4q21.1	2008-07-03	2002-08-29		ENSG00000138750	ENSG00000138750			17359	protein-coding gene	gene with protein product		607607	"""nucleoporin 54kD"""			8707840	Standard	NM_017426		Approved		uc003hjs.3	Q7Z3B4	OTTHUMG00000130098	ENST00000264883.3:c.1252C>T	4.37:g.77039260G>A	ENSP00000264883:p.Gln418*					NUP54_uc010ije.2_Nonsense_Mutation_p.Q136*|NUP54_uc011cbs.1_Nonsense_Mutation_p.Q238*|NUP54_uc011cbt.1_Nonsense_Mutation_p.Q370*|NUP54_uc003hjt.2_Nonsense_Mutation_p.Q202*	p.Q418*	NM_017426	NP_059122	Q7Z3B4	NUP54_HUMAN			10	1380	-			418			9 X 2 AA repeats of F-G.		B2RCK7|B4DT35|Q96EA7|Q9NVL5|Q9P0I1	Nonsense_Mutation	SNP	ENST00000264883.3	37	c.1252C>T	CCDS3576.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.911572	0.92178	.	.	ENSG00000138750	ENST00000264883;ENST00000342467;ENST00000514987;ENST00000458189	.	.	.	5.55	4.7	0.59300	.	0.055780	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-7.725	14.8001	0.69909	0.0707:0.0:0.9293:0.0	.	.	.	.	X	418;202;370;238	.	ENSP00000264883:Q418X	Q	-	1	0	NUP54	77258284	1.000000	0.71417	1.000000	0.80357	0.444000	0.32077	7.573000	0.82421	2.620000	0.88729	0.563000	0.77884	CAG		0.383	NUP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252402.3			10	55	0	0	0	0	10	55				
GRID2	2895	broad.mit.edu	37	4	94377028	94377028	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr4:94377028G>C	ENST00000282020.4	+	11	2019	c.1761G>C	c.(1759-1761)ttG>ttC	p.L587F	GRID2_ENST00000510992.1_Missense_Mutation_p.L492F	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	587					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		TCTACCTCTTGAACTGGCTTA	0.453																																						uc011cdt.1		NA																	0				ovary(3)|skin(2)|large_intestine(1)	6						c.(1759-1761)TTG>TTC		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						228.0	201.0	210.0					4																	94377028		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94377028G>C	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1761G>C	4.37:g.94377028G>C	ENSP00000282020:p.Leu587Phe					GRID2_uc011cdu.1_Missense_Mutation_p.L492F	p.L587F	NM_001510	NP_001501	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	11	2019	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	587			Helical; (Potential).		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.1761G>C	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.368473	0.61513	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.56941	0.43;0.43	5.97	1.66	0.24008	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.64402	D	0.000001	T	0.59046	0.2165	L	0.41415	1.275	0.58432	D	0.999995	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	T	0.57860	-0.7738	10	0.87932	D	0	.	8.5258	0.33304	0.1987:0.2076:0.5938:0.0	.	492;587	E9PH24;O43424	.;GRID2_HUMAN	F	587;492	ENSP00000282020:L587F;ENSP00000421257:L492F	ENSP00000282020:L587F	L	+	3	2	GRID2	94596051	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	0.341000	0.19909	0.371000	0.24564	0.655000	0.94253	TTG		0.453	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			8	74	0	0	0	0	8	74				
PDHA2	5161	broad.mit.edu	37	4	96762223	96762223	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr4:96762223G>A	ENST00000295266.4	+	1	985	c.922G>A	c.(922-924)Gta>Ata	p.V308I		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	308					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		AATTCAGGAAGTAAGAAGTAA	0.438																																						uc003htr.3		NA																	0				central_nervous_system(1)	1						c.(922-924)GTA>ATA		pyruvate dehydrogenase E1 alpha 2 precursor	NADH(DB00157)						82.0	82.0	82.0					4																	96762223		2203	4300	6503	SO:0001583	missense	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96762223G>A		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.922G>A	4.37:g.96762223G>A	ENSP00000295266:p.Val308Ile						p.V308I	NM_005390	NP_005381	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	985	+		Hepatocellular(203;0.114)	308					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	ENST00000295266.4	37	c.922G>A	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	G	4.445	0.082346	0.08533	.	.	ENSG00000163114	ENST00000295266	D	0.96830	-4.14	4.81	1.19	0.21007	Dehydrogenase, E1 component (1);	0.062217	0.64402	N	0.000005	D	0.90559	0.7041	L	0.31157	0.91	0.23113	N	0.998271	B	0.02656	0.0	B	0.12156	0.007	T	0.81269	-0.1009	10	0.41790	T	0.15	-17.2426	5.1955	0.15233	0.2433:0.0:0.6126:0.1441	.	308	P29803	ODPAT_HUMAN	I	308	ENSP00000295266:V308I	ENSP00000295266:V308I	V	+	1	0	PDHA2	96981246	0.804000	0.28969	0.001000	0.08648	0.086000	0.17979	1.130000	0.31393	0.078000	0.16900	-0.444000	0.05651	GTA		0.438	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			38	22	0	0	0	0	38	22				
DDIT4L	115265	broad.mit.edu	37	4	101111077	101111077	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr4:101111077C>A	ENST00000273990.2	-	2	278	c.64G>T	c.(64-66)Ggc>Tgc	p.G22C	RP11-15B17.1_ENST00000515026.1_RNA|RP11-588P8.1_ENST00000515782.1_RNA	NM_145244.3	NP_660287.1	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	22					negative regulation of signal transduction (GO:0009968)	cytoplasm (GO:0005737)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(2)	12				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)		GGGTGATAGCCACAGTCCAGC	0.592																																						uc003hvq.2		NA																	0				ovary(1)	1						c.(64-66)GGC>TGC		DNA-damage-inducible transcript 4-like							136.0	122.0	127.0					4																	101111077		2203	4300	6503	SO:0001583	missense	115265				negative regulation of signal transduction	cytoplasm		g.chr4:101111077C>A	BC013592	CCDS34036.1	4q23	2008-02-05				ENSG00000145358			30555	protein-coding gene	gene with protein product	"""regulated in development and DNA damage response 2"", "" similar to Smhs1 protein"""	607730				12477932	Standard	NM_145244		Approved	REDD2, Rtp801L	uc003hvq.3	Q96D03		ENST00000273990.2:c.64G>T	4.37:g.101111077C>A	ENSP00000354830:p.Gly22Cys						p.G22C	NM_145244	NP_660287	Q96D03	DDT4L_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)	2	267	-			22					B2R7C3	Missense_Mutation	SNP	ENST00000273990.2	37	c.64G>T	CCDS34036.1	.	.	.	.	.	.	.	.	.	.	C	9.690	1.151672	0.21371	.	.	ENSG00000145358	ENST00000273990;ENST00000502763;ENST00000513992	T;T	0.46819	0.86;0.86	4.27	4.27	0.50696	.	0.163916	0.41194	D	0.000929	T	0.28863	0.0716	N	0.19112	0.55	0.31688	N	0.642294	P	0.40000	0.698	B	0.33295	0.161	T	0.45833	-0.9234	10	0.72032	D	0.01	-4.3823	10.1764	0.42941	0.0:0.7975:0.2025:0.0	.	22	Q96D03	DDT4L_HUMAN	C	22	ENSP00000354830:G22C;ENSP00000427301:G22C	ENSP00000354830:G22C	G	-	1	0	DDIT4L	101330100	0.974000	0.33945	0.562000	0.28370	0.065000	0.16274	1.557000	0.36299	2.227000	0.72691	0.561000	0.74099	GGC		0.592	DDIT4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363423.1	NM_145244		27	16	1	0	1.08e-15	1.49e-15	27	16				
SLC9B1	150159	broad.mit.edu	37	4	103870556	103870556	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr4:103870556C>A	ENST00000296422.7	-	4	381	c.240G>T	c.(238-240)atG>atT	p.M80I	SLC9B1_ENST00000394789.3_Missense_Mutation_p.M80I	NM_139173.3	NP_631912	Q4ZJI4	SL9B1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	80					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										TTGACCAGGTCATACACCATA	0.338																																						uc003hww.2		NA																	0				ovary(1)|skin(1)	2						c.(238-240)ATG>ATT		Na+/H+ exchanger domain containing 1 isoform 1							51.0	52.0	52.0					4																	103870556		2179	4291	6470	SO:0001583	missense	150159					integral to membrane	solute:hydrogen antiporter activity	g.chr4:103870556C>A	AF447585	CCDS34041.1, CCDS47119.1	4q24	2013-05-22	2012-03-22	2011-07-26	ENSG00000164037	ENSG00000164037		"""Solute carriers"""	24244	protein-coding gene	gene with protein product		611527	"""Na+/H+ exchanger domain containing 1"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 1"""	NHEDC1		16850186	Standard	NM_139173		Approved	NHA1	uc003hww.3	Q4ZJI4	OTTHUMG00000161114	ENST00000296422.7:c.240G>T	4.37:g.103870556C>A	ENSP00000296422:p.Met80Ile					NHEDC1_uc003hwu.2_Missense_Mutation_p.M80I|NHEDC1_uc010ilm.2_5'UTR|NHEDC1_uc003hwv.2_Intron|NHEDC1_uc011cev.1_Intron	p.M80I	NM_139173	NP_631912	Q4ZJI4	NHDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.5e-08)	4	362	-		Hepatocellular(203;0.217)	80			Helical; (Potential).		A1KXV1|B9EH04|C9JBP7|Q49A30|Q8NCV2|Q8WVZ0	Missense_Mutation	SNP	ENST00000296422.7	37	c.240G>T	CCDS34041.1	.	.	.	.	.	.	.	.	.	.	C	5.124	0.208429	0.09757	.	.	ENSG00000164037	ENST00000394789;ENST00000296422;ENST00000452285	T;T	0.15718	2.4;2.41	3.85	1.37	0.22104	.	0.568974	0.15132	N	0.278768	T	0.04407	0.0121	N	0.01188	-0.97	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.33292	-0.9874	10	0.45353	T	0.12	-3.36	0.4128	0.00444	0.1836:0.2592:0.1894:0.3678	.	80;80	Q4ZJI4;Q4ZJI4-3	SL9B1_HUMAN;.	I	80	ENSP00000378269:M80I;ENSP00000296422:M80I	ENSP00000296422:M80I	M	-	3	0	SLC9B1	104090005	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	0.212000	0.17497	0.179000	0.19938	-0.378000	0.06908	ATG		0.338	SLC9B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363841.1	NM_139173		37	35	1	0	9.15e-12	1.2e-11	37	35				
ANK2	287	broad.mit.edu	37	4	114238907	114238907	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr4:114238907C>T	ENST00000357077.4	+	25	2791	c.2738C>T	c.(2737-2739)gCc>gTc	p.A913V	ANK2_ENST00000264366.6_Missense_Mutation_p.A913V|ANK2_ENST00000506722.1_Missense_Mutation_p.A892V|ANK2_ENST00000394537.3_Missense_Mutation_p.A913V|ANK2_ENST00000509550.1_Missense_Mutation_p.A122V	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	913					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTGAGCCATGCCTCCTACCTG	0.527																																						uc003ibe.3		NA																	0				central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(2737-2739)GCC>GTC		ankyrin 2 isoform 1							186.0	149.0	161.0					4																	114238907		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114238907C>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.2738C>T	4.37:g.114238907C>T	ENSP00000349588:p.Ala913Val					ANK2_uc003ibd.3_Missense_Mutation_p.A892V|ANK2_uc003ibf.3_Missense_Mutation_p.A913V|ANK2_uc011cgc.1_Missense_Mutation_p.A122V|ANK2_uc003ibg.3_5'Flank|ANK2_uc003ibc.2_Missense_Mutation_p.A889V|ANK2_uc011cgb.1_Missense_Mutation_p.A928V	p.A913V	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	25	2838	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	913					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.2738C>T	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.565813	0.45694	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550	T;T;T;T;T;T;T;T	0.75477	-0.08;0.02;-0.2;-0.08;-0.16;-0.2;-0.25;-0.94	6.06	6.06	0.98353	.	0.000000	0.56097	D	0.000024	T	0.64627	0.2615	L	0.38838	1.175	0.80722	D	1	B;B;B;B;B;B	0.34399	0.179;0.075;0.004;0.082;0.452;0.206	B;B;B;B;B;B	0.29598	0.032;0.049;0.022;0.052;0.104;0.086	T	0.64542	-0.6383	10	0.44086	T	0.13	.	14.7494	0.69513	0.0:0.9315:0.0:0.0685	.	122;913;913;913;892;892	E9PCH6;Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	.;ANK2_HUMAN;.;.;.;.	V	892;859;892;928;913;913;913;892;122	ENSP00000423799:A892V;ENSP00000421011:A859V;ENSP00000421067:A892V;ENSP00000424722:A928V;ENSP00000378044:A913V;ENSP00000349588:A913V;ENSP00000264366:A913V;ENSP00000426944:A122V	ENSP00000264366:A913V	A	+	2	0	ANK2	114458356	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.613000	0.54152	2.880000	0.98712	0.650000	0.86243	GCC		0.527	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		26	18	0	0	0	0	26	18				
ANK2	287	broad.mit.edu	37	4	114275560	114275560	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr4:114275560C>T	ENST00000357077.4	+	38	5839	c.5786C>T	c.(5785-5787)tCg>tTg	p.S1929L	ANK2_ENST00000264366.6_Missense_Mutation_p.S1896L|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1929	Repeat-rich region.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.S1929L(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCGCCAGTATCGCCTGGGAGA	0.522																																						uc003ibe.3		NA																	1	Substitution - Missense(1)		large_intestine(1)	central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(5785-5787)TCG>TTG		ankyrin 2 isoform 1							54.0	53.0	54.0					4																	114275560		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114275560C>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.5786C>T	4.37:g.114275560C>T	ENSP00000349588:p.Ser1929Leu					ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.S1944L	p.S1929L	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	5886	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1896			Repeat-rich region.|Repeat A; approximate.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.5786C>T	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.065732	0.55539	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.69561	-0.4;-0.41	5.65	5.65	0.86999	.	0.000000	0.37761	N	0.001942	T	0.78559	0.4302	M	0.63843	1.955	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.83275	0.992;0.996	T	0.76634	-0.2887	9	.	.	.	.	13.5718	0.61851	0.1556:0.8444:0.0:0.0	.	1896;1929	Q01484;Q01484-4	ANK2_HUMAN;.	L	1929;1896	ENSP00000349588:S1929L;ENSP00000264366:S1896L	.	S	+	2	0	ANK2	114495009	0.573000	0.26676	0.379000	0.26080	0.850000	0.48378	3.425000	0.52771	2.941000	0.99782	0.655000	0.94253	TCG		0.522	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		12	27	0	0	0	0	12	27				
TNIP3	79931	broad.mit.edu	37	4	122075747	122075748	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr4:122075747_122075748CC>AA	ENST00000509841.1	-	8	759_760	c.681_682GG>TT	c.(679-684)aaGGaa>aaTTaa	p.227_228KE>N*	TNIP3_ENST00000507879.1_Nonsense_Mutation_p.220_221KE>N*|TNIP3_ENST00000454328.1_Nonsense_Mutation_p.150_151KE>N*|TNIP3_ENST00000057513.3_Nonsense_Mutation_p.150_151KE>N*	NM_001244764.1	NP_001231693.1			TNFAIP3 interacting protein 3											NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						TGTTCCTTTTCCTTGTTCGCAA	0.347																																						uc010ing.2		NA																	0				ovary(1)	1						c.(448-453)AAGGAA>AATTAA		TNFAIP3 interacting protein 3																																				SO:0001587	stop_gained	79931							g.chr4:122075747_122075748CC>AA	AJ320534	CCDS3718.1, CCDS58925.1, CCDS58926.1	4q27	2008-02-05			ENSG00000050730	ENSG00000050730			19315	protein-coding gene	gene with protein product		608019				11345586	Standard	NM_024873		Approved	LIND, FLJ21162, ABIN-3	uc021xrj.1	Q96KP6	OTTHUMG00000132969	ENST00000509841.1:c.681_682delinsAA	4.37:g.122075747_122075748delinsAA	ENSP00000426613:p.K227_E228delinsN*					TNIP3_uc010inh.2_Nonsense_Mutation_p.150_151KE>N*|TNIP3_uc011cgj.1_Nonsense_Mutation_p.208_209KE>N*|TNIP3_uc010ini.2_Nonsense_Mutation_p.150_151KE>N*	p.150_151KE>N*	NM_024873	NP_079149	Q96KP6	TNIP3_HUMAN			5	646_647	-			150_151			Potential.			Nonsense_Mutation	DNP	ENST00000509841.1	37	c.450_451GG>TT	CCDS58926.1																																																																																				0.347	TNIP3-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364000.4	NM_024873		19	14	0	0	0	0	19	14				
ANKRD50	57182	broad.mit.edu	37	4	125591844	125591844	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr4:125591844C>T	ENST00000504087.1	-	4	3625	c.2588G>A	c.(2587-2589)tGt>tAt	p.C863Y	ANKRD50_ENST00000515641.1_Missense_Mutation_p.C684Y	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	863										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						AAGTGCTTCACATATCAATCT	0.408																																						uc003ifg.3		NA																	0				central_nervous_system(1)	1						c.(2587-2589)TGT>TAT		ankyrin repeat domain 50							166.0	159.0	161.0					4																	125591844		2203	4300	6503	SO:0001583	missense	57182							g.chr4:125591844C>T	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.2588G>A	4.37:g.125591844C>T	ENSP00000425658:p.Cys863Tyr					ANKRD50_uc011cgo.1_Missense_Mutation_p.C684Y|ANKRD50_uc010inw.2_Missense_Mutation_p.C863Y	p.C863Y	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN			3	2854	-			863			ANK 12.		A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	c.2588G>A	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.792638	0.70452	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.63417	-0.04;-0.04	5.27	5.27	0.74061	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.77572	0.4150	L	0.56769	1.78	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.78874	-0.2032	10	0.87932	D	0	.	19.0755	0.93159	0.0:1.0:0.0:0.0	.	863	Q9ULJ7	ANR50_HUMAN	Y	863;684	ENSP00000425658:C863Y;ENSP00000425355:C684Y	ENSP00000425658:C863Y	C	-	2	0	ANKRD50	125811294	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.164000	0.77533	2.746000	0.94184	0.561000	0.74099	TGT		0.408	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		63	29	0	0	0	0	63	29				
FAT4	79633	broad.mit.edu	37	4	126336137	126336137	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr4:126336137G>T	ENST00000394329.3	+	5	6032	c.6019G>T	c.(6019-6021)Gat>Tat	p.D2007Y	FAT4_ENST00000335110.5_Missense_Mutation_p.D305Y	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2007	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAAAGCTTTGGATCGGGAAAG	0.443																																						uc003ifj.3		NA																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(6019-6021)GAT>TAT		FAT tumor suppressor homolog 4 precursor							149.0	153.0	152.0					4																	126336137		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126336137G>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.6019G>T	4.37:g.126336137G>T	ENSP00000377862:p.Asp2007Tyr					FAT4_uc011cgp.1_Missense_Mutation_p.D305Y	p.D2007Y	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			5	6019	+			2007			Cadherin 19.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.6019G>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	17.57	3.421783	0.62622	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.65549	-0.16;-0.16	5.1	5.1	0.69264	Cadherin (4);Cadherin-like (1);	0.000000	0.35349	U	0.003261	D	0.88621	0.6486	H	0.99143	4.445	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.998;1.0	D	0.93704	0.7018	10	0.87932	D	0	.	18.5463	0.91047	0.0:0.0:1.0:0.0	.	305;2007	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	Y	2007;305	ENSP00000377862:D2007Y;ENSP00000335169:D305Y	ENSP00000335169:D305Y	D	+	1	0	FAT4	126555587	1.000000	0.71417	1.000000	0.80357	0.436000	0.31835	9.604000	0.98317	2.366000	0.80165	0.557000	0.71058	GAT		0.443	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		75	48	1	0	2.15e-50	3.36e-50	75	48				
INTU	27152	broad.mit.edu	37	4	128637585	128637585	+	Silent	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr4:128637585C>T	ENST00000335251.6	+	16	2926	c.2823C>T	c.(2821-2823)acC>acT	p.T941T		NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	941					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TTGGGTTAACCTTGTAGCTGT	0.358																																						uc003ifk.1		NA																	0				ovary(1)	1						c.(2821-2823)ACC>ACT		PDZ domain containing 6							137.0	129.0	132.0					4																	128637585		2203	4300	6503	SO:0001819	synonymous_variant	27152							g.chr4:128637585C>T	BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"""PDZ domain containing 6"", ""inturned planar cell polarity effector homolog (Drosophila)"""	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.2823C>T	4.37:g.128637585C>T						INTU_uc011cgq.1_RNA	p.T941T	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN			16	2893	+			941					A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Silent	SNP	ENST00000335251.6	37	c.2823C>T	CCDS34061.1																																																																																				0.358	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707		22	17	0	0	0	0	22	17				
LRAT	9227	broad.mit.edu	37	4	155665906	155665906	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr4:155665906G>A	ENST00000336356.3	+	2	681	c.428G>A	c.(427-429)cGg>cAg	p.R143Q	LRAT_ENST00000507827.1_Missense_Mutation_p.R143Q	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	143					phototransduction, visible light (GO:0007603)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)	phosphatidylcholine-retinol O-acyltransferase activity (GO:0047173)|retinoic acid binding (GO:0001972)|retinol binding (GO:0019841)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	GAGGTGGCGCGGAGGGCTGAA	0.582																																						uc003iom.1		NA																	0				central_nervous_system(1)	1						c.(427-429)CGG>CAG		lecithin retinol acyltransferase	Vitamin A(DB00162)						60.0	65.0	63.0					4																	155665906		2203	4300	6503	SO:0001583	missense	9227				response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity	g.chr4:155665906G>A	AF071510	CCDS3789.1	4q32.1	2014-01-28			ENSG00000121207	ENSG00000121207	2.3.1.135		6685	protein-coding gene	gene with protein product		604863				9920938	Standard	XM_006714412		Approved	LCA14	uc003ion.1	O95237	OTTHUMG00000161418	ENST00000336356.3:c.428G>A	4.37:g.155665906G>A	ENSP00000337224:p.Arg143Gln					uc003iol.2_Intron|LRAT_uc003ion.1_Missense_Mutation_p.R143Q	p.R143Q	NM_004744	NP_004735	O95237	LRAT_HUMAN			1	755	+	all_hematologic(180;0.215)	Renal(120;0.0458)	143			Cytoplasmic (By similarity).		A8K983|Q8N716	Missense_Mutation	SNP	ENST00000336356.3	37	c.428G>A	CCDS3789.1	.	.	.	.	.	.	.	.	.	.	G	2.406	-0.336471	0.05278	.	.	ENSG00000121207	ENST00000507827;ENST00000336356	T;T	0.21191	2.02;2.02	5.5	-0.993	0.10228	NC (1);	0.454838	0.24136	N	0.041202	T	0.08268	0.0206	N	0.17764	0.52	0.09310	N	0.999998	B	0.24368	0.102	B	0.17098	0.017	T	0.38866	-0.9641	10	0.06494	T	0.89	-29.7638	5.3581	0.16073	0.2352:0.0:0.5364:0.2284	.	143	O95237	LRAT_HUMAN	Q	143	ENSP00000426761:R143Q;ENSP00000337224:R143Q	ENSP00000337224:R143Q	R	+	2	0	LRAT	155885356	0.279000	0.24239	0.828000	0.32881	0.517000	0.34286	0.780000	0.26760	-0.620000	0.05641	0.549000	0.68633	CGG		0.582	LRAT-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365246.1	NM_004744		33	19	0	0	0	0	33	19				
TDO2	6999	broad.mit.edu	37	4	156831334	156831334	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr4:156831334C>A	ENST00000536354.2	+	6	653	c.589C>A	c.(589-591)Cag>Aag	p.Q197K		NM_005651.3	NP_005642.1			tryptophan 2,3-dioxygenase											breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)		TAAATCTGAGCAGGAAAAGAC	0.328																																					Colon(57;928 1036 2595 6946 26094)	uc003ipf.1		NA																	0					0						c.(589-591)CAG>AAG		tryptophan 2,3-dioxygenase	L-Tryptophan(DB00150)						64.0	69.0	67.0					4																	156831334		2203	4300	6503	SO:0001583	missense	6999				tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity	g.chr4:156831334C>A		CCDS34086.1	4q31-q32	2008-02-05				ENSG00000151790	1.13.11.11		11708	protein-coding gene	gene with protein product		191070					Standard	NM_005651		Approved	TDO, TPH2	uc003ipf.2	P48775		ENST00000536354.2:c.589C>A	4.37:g.156831334C>A	ENSP00000444788:p.Gln197Lys						p.Q197K	NM_005651	NP_005642	P48775	T23O_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	6	653	+	all_hematologic(180;0.24)	Renal(120;0.0854)	197						Missense_Mutation	SNP	ENST00000536354.2	37	c.589C>A	CCDS34086.1	.	.	.	.	.	.	.	.	.	.	C	3.633	-0.075058	0.07184	.	.	ENSG00000151790	ENST00000536354	.	.	.	4.92	4.05	0.47172	.	0.209803	0.51477	N	0.000099	T	0.49304	0.1549	L	0.31294	0.92	0.49389	D	0.999788	B	0.06786	0.001	B	0.09377	0.004	T	0.38045	-0.9679	8	.	.	.	-11.7833	15.3427	0.74311	0.0:0.8595:0.1405:0.0	.	197	P48775	T23O_HUMAN	K	197	.	.	Q	+	1	0	TDO2	157050784	1.000000	0.71417	0.988000	0.46212	0.439000	0.31926	3.836000	0.55813	1.161000	0.42604	0.644000	0.83932	CAG		0.328	TDO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366209.3	NM_005651		34	26	1	0	3.3e-07	3.94e-07	34	26				
FRG1	2483	broad.mit.edu	37	4	190878615	190878615	+	Silent	SNP	A	A	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr4:190878615A>T	ENST00000226798.4	+	6	717	c.495A>T	c.(493-495)atA>atT	p.I165I	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	165					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		CAGGGGACATAGAAGCAAAAA	0.378																																						uc003izs.2		NA																	0					0						c.(493-495)ATA>ATT		FSHD region gene 1							48.0	46.0	47.0					4																	190878615		2176	4282	6458	SO:0001819	synonymous_variant	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190878615A>T	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.495A>T	4.37:g.190878615A>T							p.I165I	NM_004477	NP_004468	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	6	686	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	165					A8K775	Silent	SNP	ENST00000226798.4	37	c.495A>T	CCDS34121.1																																																																																				0.378	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		22	113	0	0	0	0	22	113				
TPPP	11076	broad.mit.edu	37	5	677917	677917	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:677917C>A	ENST00000360578.5	-	2	380	c.259G>T	c.(259-261)Gac>Tac	p.D87Y	CTD-2589H19.6_ENST00000607068.1_RNA	NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	87	Mediates interaction with LIMK1.				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)		TTCCTGCCGTCGATCACCTGG	0.642																																						uc003jbg.3		NA																	0					0						c.(259-261)GAC>TAC		tubulin polymerization promoting protein							150.0	104.0	120.0					5																	677917		2203	4300	6503	SO:0001583	missense	11076				microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization	nucleus|perinuclear region of cytoplasm|soluble fraction	calcium ion binding|microtubule binding	g.chr5:677917C>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.259G>T	5.37:g.677917C>A	ENSP00000353785:p.Asp87Tyr					TPPP_uc003jbh.3_Missense_Mutation_p.D87Y	p.D87Y	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)	1	977	-		Ovarian(839;0.0563)	87			Mediates interaction with LIMK1.			Missense_Mutation	SNP	ENST00000360578.5	37	c.259G>T	CCDS3856.1	.	.	.	.	.	.	.	.	.	.	c	21.7	4.188024	0.78789	.	.	ENSG00000171368	ENST00000360578	T	0.53640	0.61	5.32	5.32	0.75619	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.77184	0.4093	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83330	-0.0013	10	0.87932	D	0	-39.2299	18.5839	0.91181	0.0:1.0:0.0:0.0	.	87	O94811	TPPP_HUMAN	Y	87	ENSP00000353785:D87Y	ENSP00000353785:D87Y	D	-	1	0	TPPP	730917	1.000000	0.71417	0.991000	0.47740	0.490000	0.33462	5.462000	0.66707	2.485000	0.83878	0.561000	0.74099	GAC		0.642	TPPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253645.3	NM_007030		33	56	1	0	8.42e-14	1.13e-13	33	56				
NSUN2	54888	broad.mit.edu	37	5	6609987	6609987	+	Silent	SNP	T	T	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:6609987T>A	ENST00000264670.6	-	12	1586	c.1275A>T	c.(1273-1275)gcA>gcT	p.A425A	NSUN2_ENST00000539938.1_Silent_p.A189A|NSUN2_ENST00000506139.1_Silent_p.A390A	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	425					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						TCACCAATACTGCCACAAAAA	0.328																																						uc003jdu.2		NA																	0				ovary(1)	1						c.(1273-1275)GCA>GCT		NOL1/NOP2/Sun domain family, member 2							70.0	73.0	72.0					5																	6609987		2203	4300	6503	SO:0001819	synonymous_variant	54888					cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding	g.chr5:6609987T>A	AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"""NOP2/Sun domain containing"""	25994	protein-coding gene	gene with protein product	"""tRNA methyltransferase 4 homolog (S. cerevisiae)"", ""Myc-induced SUN-domain-containing protein"""	610916	"""NOL1/NOP2/Sun domain family, member 2"", ""NOP2/Sun domain family, member 2"", ""mental retardation, non-syndromic, autosomal recessive, 5"""	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.1275A>T	5.37:g.6609987T>A						NSUN2_uc003jdt.2_Silent_p.A189A|NSUN2_uc011cmk.1_Silent_p.A390A|NSUN2_uc003jdv.2_Silent_p.A189A	p.A425A	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN			12	1340	-			425					A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Silent	SNP	ENST00000264670.6	37	c.1275A>T	CCDS3869.1																																																																																				0.328	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1	NM_017755		35	40	0	0	0	0	35	40				
FASTKD3	79072	broad.mit.edu	37	5	7867502	7867502	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:7867502C>T	ENST00000264669.5	-	2	831	c.695G>A	c.(694-696)gGt>gAt	p.G232D	MTRR_ENST00000502509.1_Intron|MTRR_ENST00000440940.2_5'Flank|MTRR_ENST00000341013.6_5'Flank|MTRR_ENST00000264668.2_5'Flank|FASTKD3_ENST00000513658.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	232					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGTCACACAACCTGAACTGTG	0.418																																						uc003jeb.2		NA																	0				ovary(2)|breast(1)|pancreas(1)	4						c.(694-696)GGT>GAT		FAST kinase domains 3							96.0	98.0	97.0					5																	7867502		2203	4300	6503	SO:0001583	missense	79072				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr5:7867502C>T	AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.695G>A	5.37:g.7867502C>T	ENSP00000264669:p.Gly232Asp					FASTKD3_uc011cmp.1_5'UTR|FASTKD3_uc003jec.2_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jee.3_5'Flank|MTRR_uc003jed.2_5'Flank|MTRR_uc003jef.3_5'Flank|MTRR_uc003jeg.3_5'Flank|MTRR_uc010ito.2_5'Flank	p.G232D	NM_024091	NP_076996	Q14CZ7	FAKD3_HUMAN			2	832	-			232					Q9BVD3	Missense_Mutation	SNP	ENST00000264669.5	37	c.695G>A	CCDS3873.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.566888	0.28003	.	.	ENSG00000124279	ENST00000264669;ENST00000504695	T;T	0.24151	1.87;1.87	4.85	-0.563	0.11778	.	0.934294	0.09283	N	0.823399	T	0.18635	0.0447	L	0.39898	1.24	0.09310	N	1	B	0.18863	0.031	B	0.21151	0.033	T	0.38585	-0.9654	10	0.11182	T	0.66	-1.6745	9.9351	0.41545	0.0:0.4956:0.0:0.5044	.	232	Q14CZ7	FAKD3_HUMAN	D	232	ENSP00000264669:G232D;ENSP00000426008:G232D	ENSP00000264669:G232D	G	-	2	0	FASTKD3	7920502	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.005000	0.13129	-0.021000	0.14009	-0.355000	0.07637	GGT		0.418	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	NM_024091		22	74	0	0	0	0	22	74				
MTRR	4552	broad.mit.edu	37	5	7897181	7897181	+	Silent	SNP	A	A	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:7897181A>G	ENST00000264668.2	+	14	1884	c.1854A>G	c.(1852-1854)aaA>aaG	p.K618K	MTRR_ENST00000440940.2_Silent_p.K591K	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	618					cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|DNA methylation (GO:0006306)|folic acid metabolic process (GO:0046655)|methionine biosynthetic process (GO:0009086)|methionine metabolic process (GO:0006555)|methylation (GO:0032259)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	[methionine synthase] reductase activity (GO:0030586)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor (GO:0016723)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	ATTTCAGAAAAGAGCTCAGAC	0.388																																						uc003jed.2		NA																	0				ovary(1)	1						c.(1852-1854)AAA>AAG		methionine synthase reductase isoform 2	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)						38.0	44.0	42.0					5																	7897181		2203	4300	6503	SO:0001819	synonymous_variant	4552				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding	g.chr5:7897181A>G	AF025794	CCDS3874.1, CCDS47190.1	5p15.31	2011-05-12			ENSG00000124275	ENSG00000124275	1.16.1.8		7473	protein-coding gene	gene with protein product		602568				9501215	Standard	NM_024010		Approved	cblE	uc003jed.3	Q9UBK8	OTTHUMG00000090477	ENST00000264668.2:c.1854A>G	5.37:g.7897181A>G						MTRR_uc003jee.3_Silent_p.K591K|MTRR_uc003jef.3_RNA|MTRR_uc003jeg.3_RNA|MTRR_uc010ito.2_RNA	p.K618K	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN			14	1884	+			618					O60471|Q32MA9|Q7Z4M8	Silent	SNP	ENST00000264668.2	37	c.1854A>G	CCDS3874.1																																																																																				0.388	MTRR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206931.1			15	20	0	0	0	0	15	20				
SEMA5A	9037	broad.mit.edu	37	5	9202224	9202224	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:9202224C>A	ENST00000382496.5	-	9	1440	c.775G>T	c.(775-777)Ggt>Tgt	p.G259C		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	259	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						AAGCGCCCACCAATATCGTTC	0.507																																						uc003jek.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(775-777)GGT>TGT		semaphorin 5A precursor							99.0	90.0	93.0					5																	9202224		2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9202224C>A	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.775G>T	5.37:g.9202224C>A	ENSP00000371936:p.Gly259Cys						p.G259C	NM_003966	NP_003957	Q13591	SEM5A_HUMAN			9	1487	-			259			Sema.|Extracellular (Potential).		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.775G>T	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.906430	0.92107	.	.	ENSG00000112902	ENST00000382496	T	0.73258	-0.73	5.81	5.81	0.92471	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	D	0.90065	0.6897	H	0.97265	3.97	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.93049	0.6464	10	0.87932	D	0	.	17.5522	0.87879	0.0:1.0:0.0:0.0	.	259	Q13591	SEM5A_HUMAN	C	259	ENSP00000371936:G259C	ENSP00000371936:G259C	G	-	1	0	SEMA5A	9255224	1.000000	0.71417	0.866000	0.34008	0.747000	0.42532	7.290000	0.78711	2.753000	0.94483	0.655000	0.94253	GGT		0.507	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			30	59	1	0	4.03e-09	5.04e-09	30	59				
PRDM9	56979	broad.mit.edu	37	5	23522738	23522738	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:23522738A>G	ENST00000296682.3	+	8	808	c.626A>G	c.(625-627)cAg>cGg	p.Q209R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	209					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GAGATGTGTCAGAACTTCTTC	0.483										HNSCC(3;0.000094)																												uc003jgo.2		NA																	0				ovary(3)|large_intestine(2)|pancreas(1)	6						c.(625-627)CAG>CGG		PR domain containing 9							50.0	49.0	49.0					5																	23522738		2203	4300	6503	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23522738A>G	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.626A>G	5.37:g.23522738A>G	ENSP00000296682:p.Gln209Arg	HNSCC(3;0.000094)					p.Q209R	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			8	808	+			209					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.626A>G	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	A	15.77	2.931310	0.52866	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.53423	0.62	4.28	4.28	0.50868	.	0.255385	0.20741	N	0.086532	T	0.44746	0.1308	M	0.71581	2.175	0.30030	N	0.813576	B	0.30281	0.275	B	0.23574	0.047	T	0.53830	-0.8383	10	0.62326	D	0.03	-13.299	10.1238	0.42637	1.0:0.0:0.0:0.0	.	209	Q9NQV7	PRDM9_HUMAN	R	209;3	ENSP00000296682:Q209R	ENSP00000253473:Q3R	Q	+	2	0	PRDM9	23558495	0.999000	0.42202	1.000000	0.80357	0.811000	0.45836	2.151000	0.42263	1.700000	0.51204	0.487000	0.48397	CAG		0.483	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		20	15	0	0	0	0	20	15				
CDH6	1004	broad.mit.edu	37	5	31323142	31323142	+	Silent	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:31323142C>A	ENST00000265071.2	+	12	2365	c.2100C>A	c.(2098-2100)ccC>ccA	p.P700P		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	700					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTTTCCTACCCCGACGGACTC	0.517																																						uc003jhe.1		NA																	0				ovary(4)|skin(2)|large_intestine(1)	7						c.(2098-2100)CCC>CCA		cadherin 6, type 2 preproprotein							80.0	76.0	77.0					5																	31323142		2203	4300	6503	SO:0001819	synonymous_variant	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31323142C>A	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.2100C>A	5.37:g.31323142C>A							p.P700P	NM_004932	NP_004923	P55285	CADH6_HUMAN			12	2426	+			700			Cytoplasmic (Potential).		A8K5H5|Q9BWS0	Silent	SNP	ENST00000265071.2	37	c.2100C>A	CCDS3894.1																																																																																				0.517	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		15	50	1	0	0.000308642	0.000338576	15	50				
TARS	6897	broad.mit.edu	37	5	33461070	33461070	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:33461070G>A	ENST00000265112.3	+	12	1625	c.1314G>A	c.(1312-1314)ggG>ggA	p.G438G	TARS_ENST00000541634.1_Silent_p.G334G|TARS_ENST00000502553.1_Silent_p.G438G|TARS_ENST00000414361.2_Silent_p.G317G|TARS_ENST00000455217.2_Silent_p.G471G	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	438					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	CTGATTTTGGGGTACTTCATA	0.502																																						uc003jhy.2		NA																	0				ovary(2)	2						c.(1312-1314)GGG>GGA		threonyl-tRNA synthetase	L-Threonine(DB00156)						89.0	92.0	91.0					5																	33461070		2203	4300	6503	SO:0001819	synonymous_variant	6897				threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	g.chr5:33461070G>A	AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	11572	protein-coding gene	gene with protein product	"""threonine tRNA ligase 1, cytoplasmic"""	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.1314G>A	5.37:g.33461070G>A						TARS_uc011cob.1_Silent_p.G426G|TARS_uc010iup.1_Silent_p.G379G|TARS_uc011coc.1_Silent_p.G459G|TARS_uc003jhz.2_Silent_p.G334G|TARS_uc011cod.1_Silent_p.G317G	p.G438G	NM_152295	NP_689508	P26639	SYTC_HUMAN			12	1609	+			438					A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Silent	SNP	ENST00000265112.3	37	c.1314G>A	CCDS3899.1																																																																																				0.502	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207367.1	NM_152295		18	48	0	0	0	0	18	48				
SPEF2	79925	broad.mit.edu	37	5	35654802	35654802	+	Nonsense_Mutation	SNP	C	C	T	rs375325536		TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:35654802C>T	ENST00000356031.3	+	7	1106	c.952C>T	c.(952-954)Cag>Tag	p.Q318*	SPEF2_ENST00000282469.6_Nonsense_Mutation_p.Q318*|SPEF2_ENST00000440995.2_Nonsense_Mutation_p.Q318*|SPEF2_ENST00000509059.1_Nonsense_Mutation_p.Q318*	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	318					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTTAATGGACCAGTTAATAGC	0.383																																						uc003jjo.2		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(952-954)CAG>TAG		KPL2 protein isoform 1							74.0	72.0	73.0					5																	35654802		2203	4300	6503	SO:0001587	stop_gained	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35654802C>T	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.952C>T	5.37:g.35654802C>T	ENSP00000348314:p.Gln318*					SPEF2_uc003jjn.1_Nonsense_Mutation_p.Q318*|SPEF2_uc003jjq.3_Nonsense_Mutation_p.Q318*	p.Q318*	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		7	1063	+	all_lung(31;7.56e-05)		318					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Nonsense_Mutation	SNP	ENST00000356031.3	37	c.952C>T	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	C	33	5.284155	0.95517	.	.	ENSG00000152582	ENST00000282469;ENST00000356031;ENST00000509059;ENST00000440995	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.5838	0.95484	0.0:1.0:0.0:0.0	.	.	.	.	X	318	.	ENSP00000282469:Q318X	Q	+	1	0	SPEF2	35690559	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.364000	0.73086	2.704000	0.92352	0.655000	0.94253	CAG		0.383	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		45	43	0	0	0	0	45	43				
SKP2	6502	broad.mit.edu	37	5	36184011	36184011	+	3'UTR	SNP	T	T	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:36184011T>G	ENST00000274255.6	+	0	3349				SKP2_ENST00000274254.5_Silent_p.T377T	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|cellular response to cell-matrix adhesion (GO:0071460)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	identical protein binding (GO:0042802)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CATACAGAACTTCCAAACTCA	0.363																																						uc003jkd.2		NA																	0				central_nervous_system(2)|ovary(1)|breast(1)	4						c.(1129-1131)ACT>ACG		S-phase kinase-associated protein 2 isoform 2							97.0	90.0	92.0					5																	36184011		2203	4300	6503	SO:0001624	3_prime_UTR_variant	6502				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr5:36184011T>G	U33761	CCDS3915.1, CCDS3916.1, CCDS58944.1	5p13	2012-02-23	2012-02-23		ENSG00000145604	ENSG00000145604		"""F-boxes / Leucine-rich repeats"""	10901	protein-coding gene	gene with protein product		601436	"""S-phase kinase-associated protein 2 (p45)"""			8646875	Standard	NM_005983		Approved	FBXL1, FBL1, p45	uc003jkc.2	Q13309	OTTHUMG00000131106	ENST00000274255.6:c.*1878T>G	5.37:g.36184011T>G							p.T377T	NM_032637	NP_116026	Q13309	SKP2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		10	1307	+	all_lung(31;5.63e-05)		Error:Variant_position_missing_in_Q13309_after_alignment					A8K5E0|B4DJT4|Q8TDZ0|Q8TDZ1|Q9BV69	Silent	SNP	ENST00000274255.6	37	c.1131T>G	CCDS3916.1																																																																																				0.363	SKP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253769.2	NM_005983		7	71	0	0	0	0	7	71				
PTGER4	5734	broad.mit.edu	37	5	40681505	40681505	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:40681505G>T	ENST00000302472.3	+	2	1434	c.410G>T	c.(409-411)gGc>gTc	p.G137V	PTGER4_ENST00000514343.1_3'UTR	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	137					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)	CGATTGGCGGGCCTCACGCTC	0.597											OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003jlz.2		NA																	0				lung(2)	2						c.(409-411)GGC>GTC		prostaglandin E receptor 4, subtype EP4							121.0	122.0	122.0					5																	40681505		2203	4300	6503	SO:0001583	missense	5734				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity	g.chr5:40681505G>T	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.410G>T	5.37:g.40681505G>T	ENSP00000302846:p.Gly137Val		OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	895		p.G137V	NM_000958	NP_000949	P35408	PE2R4_HUMAN			2	1002	+			137			Helical; Name=4; (Potential).		Q3MJ87	Missense_Mutation	SNP	ENST00000302472.3	37	c.410G>T	CCDS3930.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.080864	0.55753	.	.	ENSG00000171522	ENST00000302472	T	0.35048	1.33	5.42	5.42	0.78866	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.34542	0.0901	L	0.49778	1.585	0.80722	D	1	B	0.25850	0.136	B	0.29663	0.105	T	0.08994	-1.0695	10	0.17369	T	0.5	-29.8029	15.569	0.76320	0.0:0.138:0.862:0.0	.	137	P35408	PE2R4_HUMAN	V	137	ENSP00000302846:G137V	ENSP00000302846:G137V	G	+	2	0	PTGER4	40717262	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.929000	0.56514	2.552000	0.86080	0.561000	0.74099	GGC		0.597	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211578.2	NM_000958		58	74	1	0	9.6e-30	1.46e-29	58	74				
MROH2B	133558	broad.mit.edu	37	5	41038946	41038946	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:41038946C>A	ENST00000399564.4	-	21	2556	c.2106G>T	c.(2104-2106)atG>atT	p.M702I	MROH2B_ENST00000506092.2_Missense_Mutation_p.M257I	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	702																	CATAGATGACCATGACATCTG	0.453																																						uc003jmj.3		NA																	0				ovary(6)|central_nervous_system(2)	8						c.(2104-2106)ATG>ATT		HEAT repeat family member 7B2							75.0	72.0	73.0					5																	41038946		1873	4098	5971	SO:0001583	missense	133558						binding	g.chr5:41038946C>A		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.2106G>T	5.37:g.41038946C>A	ENSP00000382476:p.Met702Ile					HEATR7B2_uc003jmi.3_Missense_Mutation_p.M257I	p.M702I	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			21	2596	-			702					Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.2106G>T	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.499506	0.01001	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.65178	4.93;-0.14	5.93	0.173	0.15036	Armadillo-type fold (1);	0.254323	0.31834	N	0.006989	T	0.28532	0.0706	N	0.10874	0.06	0.23889	N	0.996554	B	0.06786	0.001	B	0.06405	0.002	T	0.10753	-1.0616	10	0.06891	T	0.86	.	1.3151	0.02105	0.1408:0.4185:0.1458:0.2949	.	702	Q7Z745	HTRB2_HUMAN	I	257;407;702	ENSP00000441504:M257I;ENSP00000382476:M702I	ENSP00000296803:M407I	M	-	3	0	HEATR7B2	41074703	0.047000	0.20315	0.479000	0.27329	0.189000	0.23516	-0.103000	0.10940	-0.006000	0.14370	0.655000	0.94253	ATG		0.453	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		19	57	1	0	7.42e-09	9.23e-09	19	57				
NIM1K	167359	broad.mit.edu	37	5	43280809	43280809	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:43280809C>G	ENST00000512796.1	+	4	2788	c.1289C>G	c.(1288-1290)tCc>tGc	p.S430C	NIM1_ENST00000326035.2_Missense_Mutation_p.S430C			Q8IY84	NIM1_HUMAN		430					protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)										AGACACACATCCAAATTTTGC	0.403																																						uc003jno.2		NA																	0				lung(4)|ovary(2)|stomach(1)|large_intestine(1)|breast(1)	9						c.(1288-1290)TCC>TGC		serine/threonine-protein kinase NIM1							46.0	47.0	46.0					5																	43280809		2199	4289	6488	SO:0001583	missense	167359						ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:43280809C>G																												ENST00000512796.1:c.1289C>G	5.37:g.43280809C>G	ENSP00000420849:p.Ser430Cys						p.S430C	NM_153361	NP_699192	Q8IY84	NIM1_HUMAN			4	2170	+			430					B3KVM1	Missense_Mutation	SNP	ENST00000512796.1	37	c.1289C>G	CCDS3943.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.523328	0.85600	.	.	ENSG00000177453	ENST00000326035;ENST00000512796	T;T	0.74106	-0.81;-0.81	5.47	5.47	0.80525	.	0.062459	0.64402	D	0.000003	D	0.86297	0.5899	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87308	0.2310	10	0.87932	D	0	.	19.33	0.94281	0.0:1.0:0.0:0.0	.	430	Q8IY84	NIM1_HUMAN	C	430	ENSP00000313572:S430C;ENSP00000420849:S430C	ENSP00000313572:S430C	S	+	2	0	AC114947.1	43316566	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.582000	0.87167	0.591000	0.81541	TCC		0.403	NIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368017.1			25	33	0	0	0	0	25	33				
CCL28	56477	broad.mit.edu	37	5	43382139	43382139	+	Silent	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:43382139G>T	ENST00000361115.4	-	3	281	c.207C>A	c.(205-207)cgC>cgA	p.R69R	CCL28_ENST00000537013.1_Missense_Mutation_p.A102E|CCL28_ENST00000513525.1_Silent_p.R22R	NM_148672.2	NP_683513.1	Q9NRJ3	CCL28_HUMAN	chemokine (C-C motif) ligand 28	69					cell chemotaxis (GO:0060326)|chemotaxis (GO:0006935)|immune response (GO:0006955)|negative regulation of leukocyte tethering or rolling (GO:1903237)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	chemokine activity (GO:0008009)			kidney(3)|lung(3)|ovary(1)	7						AGATTCTTCTGCGCTTGACAT	0.398																																					Esophageal Squamous(178;1549 1997 2043 22794 27051)	uc003jnu.2		NA																	0				ovary(1)|kidney(1)	2						c.(205-207)CGC>CGA		chemokine (C-C motif) ligand 28 precursor							114.0	95.0	101.0					5																	43382139		2203	4300	6503	SO:0001819	synonymous_variant	56477				chemotaxis|immune response	extracellular space	chemokine activity	g.chr5:43382139G>T	AF110384	CCDS3944.1	5p12	2013-02-25			ENSG00000151882	ENSG00000151882		"""Chemokine ligands"", ""Endogenous ligands"""	17700	protein-coding gene	gene with protein product	"""CC chemokine CCL28"", ""mucosae-associated epithelial chemokine"", ""small inducible cytokine subfamily A (Cys-Cys), member 28"", ""small inducible cytokine A28"""	605240				10781587, 11295038	Standard	XR_241707		Approved	SCYA28, MEC, CCK1	uc003jnu.3	Q9NRJ3	OTTHUMG00000094811	ENST00000361115.4:c.207C>A	5.37:g.43382139G>T						CCL28_uc003jns.2_RNA|CCL28_uc003jnt.2_RNA|CCL28_uc010ivn.2_Silent_p.R22R	p.R69R	NM_148672	NP_683513	Q9NRJ3	CCL28_HUMAN			3	277	-			69					D7RIE7	Silent	SNP	ENST00000361115.4	37	c.207C>A	CCDS3944.1	.	.	.	.	.	.	.	.	.	.	G	1.673	-0.508556	0.04231	.	.	ENSG00000151882	ENST00000537013	T	0.15952	2.38	5.44	2.47	0.30058	.	.	.	.	.	T	0.18341	0.0440	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.17440	-1.0369	6	0.62326	D	0.03	-5.073	5.9004	0.18964	0.3312:0.0:0.6688:0.0	.	.	.	.	E	102	ENSP00000443823:A102E	ENSP00000443823:A102E	A	-	2	0	CCL28	43417896	0.550000	0.26489	0.686000	0.30086	0.969000	0.65631	0.783000	0.26802	0.847000	0.35167	0.655000	0.94253	GCA		0.398	CCL28-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211631.2	NM_148672		12	60	1	0	6.4e-05	7.16e-05	12	60				
MAP1B	4131	broad.mit.edu	37	5	71492252	71492252	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:71492252G>A	ENST00000296755.7	+	5	3368	c.3070G>A	c.(3070-3072)Gac>Aac	p.D1024N		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1024					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)		TGATGAGGAGGACAAAGCTGA	0.532																																					Melanoma(17;367 822 11631 31730 47712)	uc003kbw.3		NA																	0				large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5						c.(3070-3072)GAC>AAC		microtubule-associated protein 1B							141.0	143.0	142.0					5																	71492252		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71492252G>A	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.3070G>A	5.37:g.71492252G>A	ENSP00000296755:p.Asp1024Asn					MAP1B_uc010iyw.1_Missense_Mutation_p.D1041N|MAP1B_uc010iyx.1_Missense_Mutation_p.D898N|MAP1B_uc010iyy.1_Missense_Mutation_p.D898N	p.D1024N	NM_005909	NP_005900	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	3311	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1024					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.3070G>A	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.137784	0.37728	.	.	ENSG00000131711	ENST00000296755	T	0.03468	3.92	5.33	4.45	0.53987	.	0.158789	0.44285	D	0.000462	T	0.02571	0.0078	N	0.08118	0	0.42224	D	0.991865	P;B	0.35433	0.501;0.361	B;B	0.29942	0.109;0.109	T	0.58912	-0.7552	10	0.59425	D	0.04	-11.069	15.4103	0.74914	0.0:0.0:0.8598:0.1402	.	898;1024	A2BDK6;P46821	.;MAP1B_HUMAN	N	1024	ENSP00000296755:D1024N	ENSP00000296755:D1024N	D	+	1	0	MAP1B	71528008	0.989000	0.36119	1.000000	0.80357	0.647000	0.38526	1.662000	0.37418	1.464000	0.47987	0.655000	0.94253	GAC		0.532	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		37	11	0	0	0	0	37	11				
AP3B1	8546	broad.mit.edu	37	5	77385258	77385258	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:77385258G>T	ENST00000255194.6	-	22	2711	c.2536C>A	c.(2536-2538)Ctt>Att	p.L846I	AP3B1_ENST00000519295.1_Missense_Mutation_p.L797I	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	846					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		AAACCTTCAAGATCAGCCATC	0.393									Hermansky-Pudlak syndrome																													uc003kfj.2		NA																	0				central_nervous_system(1)	1						c.(2536-2538)CTT>ATT		adaptor-related protein complex 3, beta 1							127.0	119.0	122.0					5																	77385258		2203	4300	6503	SO:0001583	missense	8546	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8	endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity	g.chr5:77385258G>T	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.2536C>A	5.37:g.77385258G>T	ENSP00000255194:p.Leu846Ile						p.L846I	NM_003664	NP_003655	O00203	AP3B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)	22	2661	-		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)	846					E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	ENST00000255194.6	37	c.2536C>A	CCDS4041.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.207627	0.58343	.	.	ENSG00000132842	ENST00000255194;ENST00000519295	T;T	0.58797	0.31;0.33	4.68	4.68	0.58851	.	0.151831	0.44483	D	0.000452	T	0.74619	0.3740	M	0.79011	2.435	0.42954	D	0.994386	D	0.63880	0.993	D	0.70016	0.967	T	0.76372	-0.2983	10	0.44086	T	0.13	-11.9212	14.6739	0.68964	0.0:0.0:1.0:0.0	.	846	O00203	AP3B1_HUMAN	I	846;797	ENSP00000255194:L846I;ENSP00000430597:L797I	ENSP00000255194:L846I	L	-	1	0	AP3B1	77421014	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.777000	0.62361	2.317000	0.78254	0.467000	0.42956	CTT		0.393	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2			28	14	1	0	1.55e-18	2.2e-18	28	14				
NR2F1	7025	broad.mit.edu	37	5	92923837	92923837	+	Silent	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:92923837G>C	ENST00000327111.3	+	2	2365	c.678G>C	c.(676-678)ctG>ctC	p.L226L	NR2F1-AS1_ENST00000513055.1_RNA	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	226					cerebral cortex regionalization (GO:0021796)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|retinoic acid-responsive element binding (GO:0044323)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		CCGCGCGCCTGCTCTTCAGCG	0.652																																						uc003kkj.2		NA																	0				urinary_tract(1)|ovary(1)|lung(1)	3						c.(676-678)CTG>CTC		nuclear receptor subfamily 2, group F, member 1							78.0	76.0	77.0					5																	92923837		2203	4300	6503	SO:0001819	synonymous_variant	7025				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr5:92923837G>C	BC004154	CCDS4068.1	5q14	2013-01-16			ENSG00000175745	ENSG00000175745		"""Nuclear hormone receptors"""	7975	protein-coding gene	gene with protein product		132890		ERBAL3, TFCOUP1		8530078	Standard	NM_005654		Approved	EAR-3, COUP-TFI, TCFCOUP1, SVP44	uc003kkj.3	P10589	OTTHUMG00000119079	ENST00000327111.3:c.678G>C	5.37:g.92923837G>C							p.L226L	NM_005654	NP_005645	P10589	COT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)	2	2365	+		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)	226						Silent	SNP	ENST00000327111.3	37	c.678G>C	CCDS4068.1																																																																																				0.652	NR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239293.2	NM_005654		40	28	0	0	0	0	40	28				
TRIM36	55521	broad.mit.edu	37	5	114472790	114472790	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:114472790A>G	ENST00000282369.3	-	7	1274	c.1153T>C	c.(1153-1155)Ttt>Ctt	p.F385L	TRIM36_ENST00000514154.1_Missense_Mutation_p.F230L|TRIM36_ENST00000513154.1_Missense_Mutation_p.F373L	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	385	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.				acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		GCAGGTCTAAAGCTCTTCAAA	0.333																																						uc003kqs.2		NA																	0				ovary(4)|lung(2)|breast(2)	8						c.(1153-1155)TTT>CTT		tripartite motif-containing 36 isoform 1							47.0	50.0	49.0					5																	114472790		2201	4300	6501	SO:0001583	missense	55521					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	g.chr5:114472790A>G	AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16280	protein-coding gene	gene with protein product	"""zinc-binding protein Rbcc728"", ""tripartite motif protein 36"", ""RING finger protein 98"""	609317	"""tripartite motif-containing 36"""			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.1153T>C	5.37:g.114472790A>G	ENSP00000282369:p.Phe385Leu					TRIM36_uc011cwc.1_Missense_Mutation_p.F373L|TRIM36_uc003kqt.2_Missense_Mutation_p.F230L	p.F385L	NM_018700	NP_061170	Q9NQ86	TRI36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)	7	1662	-		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)	385			COS.		A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	ENST00000282369.3	37	c.1153T>C	CCDS4115.1	.	.	.	.	.	.	.	.	.	.	A	17.29	3.352331	0.61293	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000514154	T;T;T	0.60548	0.85;0.97;0.18	5.49	5.49	0.81192	COS domain (1);	0.000000	0.85682	D	0.000000	T	0.60508	0.2274	L	0.45698	1.435	0.80722	D	1	D;P	0.62365	0.991;0.589	P;B	0.57009	0.811;0.222	T	0.58375	-0.7647	10	0.02654	T	1	.	15.5876	0.76495	1.0:0.0:0.0:0.0	.	373;385	E9PFI8;Q9NQ86	.;TRI36_HUMAN	L	385;373;230	ENSP00000282369:F385L;ENSP00000423934:F373L;ENSP00000424259:F230L	ENSP00000282369:F385L	F	-	1	0	TRIM36	114500689	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.272000	0.89885	2.080000	0.62538	0.528000	0.53228	TTT		0.333	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	NM_018700		12	13	0	0	0	0	12	13				
P4HA2	8974	broad.mit.edu	37	5	131533904	131533904	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:131533904T>A	ENST00000401867.1	-	13	1934	c.1366A>T	c.(1366-1368)Aac>Tac	p.N456Y	P4HA2_ENST00000379086.1_Intron|P4HA2_ENST00000379100.2_Intron|P4HA2_ENST00000166534.4_Missense_Mutation_p.N456Y|P4HA2_ENST00000360568.3_Intron|P4HA2_ENST00000379104.2_Missense_Mutation_p.N456Y			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	456	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|procollagen-proline 4-dioxygenase complex (GO:0016222)	electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	CTCACGTAGTTTAAGAAAGTA	0.502																																					Esophageal Squamous(68;117 1135 17362 19256 34242)	uc003kwh.2		NA																	0					0						c.(1366-1368)AAC>TAC		prolyl 4-hydroxylase, alpha II subunit isoform 1	L-Proline(DB00172)|Succinic acid(DB00139)						129.0	115.0	120.0					5																	131533904		2203	4300	6503	SO:0001583	missense	8974					endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding	g.chr5:131533904T>A	U90441	CCDS4151.1, CCDS34230.1	5q31	2008-12-09	2008-12-09		ENSG00000072682	ENSG00000072682	1.14.11.2		8547	protein-coding gene	gene with protein product	"""4-PH alpha 2"", ""collagen prolyl 4-hydroxylase alpha(II)"""	600608	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II"""			9211872, 9149945	Standard	NM_001142598		Approved	C-P4Halpha(II)	uc003kwl.3	O15460	OTTHUMG00000059647	ENST00000401867.1:c.1366A>T	5.37:g.131533904T>A	ENSP00000384999:p.Asn456Tyr					P4HA2_uc003kwg.2_Intron|P4HA2_uc003kwi.2_Intron|P4HA2_uc003kwk.2_Intron|P4HA2_uc003kwl.2_Missense_Mutation_p.N456Y|P4HA2_uc003kwj.2_Intron	p.N456Y	NM_004199	NP_004190	O15460	P4HA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		12	1930	-		all_cancers(142;0.103)|Breast(839;0.198)	456			Fe2OG dioxygenase.		D3DQ85|D3DQ86|Q8WWN0	Missense_Mutation	SNP	ENST00000401867.1	37	c.1366A>T	CCDS4151.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.068673	0.76301	.	.	ENSG00000072682	ENST00000401867;ENST00000166534;ENST00000379104	T;T;T	0.74947	-0.89;-0.89;-0.89	6.03	6.03	0.97812	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	T	0.52964	0.1767	N	0.00427	-1.505	0.80722	D	1	P	0.43352	0.804	P	0.47346	0.544	T	0.73023	-0.4113	10	0.56958	D	0.05	-12.2833	16.5602	0.84551	0.0:0.0:0.0:1.0	.	456	O15460	P4HA2_HUMAN	Y	456	ENSP00000384999:N456Y;ENSP00000166534:N456Y;ENSP00000368398:N456Y	ENSP00000166534:N456Y	N	-	1	0	P4HA2	131561803	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.812000	0.55628	2.313000	0.78055	0.454000	0.30748	AAC		0.502	P4HA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132653.4	NM_004199		31	11	0	0	0	0	31	11				
GFRA3	2676	broad.mit.edu	37	5	137593402	137593402	+	Silent	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:137593402G>T	ENST00000274721.3	-	4	957	c.711C>A	c.(709-711)ccC>ccA	p.P237P	GFRA3_ENST00000378362.3_Silent_p.P206P	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	237					nervous system development (GO:0007399)|neuron migration (GO:0001764)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|receptor binding (GO:0005102)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GCGCGCAGTTGGGGGCGATGG	0.711																																						uc003lcn.2		NA																	0				ovary(1)	1						c.(709-711)CCC>CCA		GDNF family receptor alpha 3 preproprotein							13.0	16.0	15.0					5																	137593402		2177	4252	6429	SO:0001819	synonymous_variant	2676				peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding	g.chr5:137593402G>T	AY358997	CCDS4201.1	5q31.1-q31.3	2008-02-05			ENSG00000146013	ENSG00000146013			4245	protein-coding gene	gene with protein product		605710				9407096	Standard	NM_001496		Approved	GFRa-3	uc003lcn.3	O60609	OTTHUMG00000129200	ENST00000274721.3:c.711C>A	5.37:g.137593402G>T						GFRA3_uc003lco.2_Silent_p.P206P	p.P237P	NM_001496	NP_001487	O60609	GFRA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		4	851	-			237					B2RA36|B4DMY9|Q6UW20|Q8IUZ2	Silent	SNP	ENST00000274721.3	37	c.711C>A	CCDS4201.1																																																																																				0.711	GFRA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251277.1	NM_001496		16	6	1	0	3.53e-06	4.11e-06	16	6				
NRG2	9542	broad.mit.edu	37	5	139231313	139231313	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:139231313G>T	ENST00000361474.1	-	9	1872	c.1648C>A	c.(1648-1650)Cca>Aca	p.P550T	NRG2_ENST00000394770.1_3'UTR|NRG2_ENST00000358522.3_Missense_Mutation_p.P552T|NRG2_ENST00000289422.7_Missense_Mutation_p.P558T|CTB-35F21.4_ENST00000504413.1_RNA|NRG2_ENST00000545385.1_Missense_Mutation_p.P552T|NRG2_ENST00000289409.4_Missense_Mutation_p.P544T|NRG2_ENST00000340391.3_Missense_Mutation_p.P347T|NRG2_ENST00000541337.1_Missense_Mutation_p.P484T	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	550					embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACATGCTGGGCTGTTGCAT	0.627																																						uc003lex.1		NA																	0				pancreas(2)|breast(2)|ovary(1)|skin(1)	6						c.(1648-1650)CCA>ACA		neuregulin 2 isoform 1							61.0	61.0	61.0					5																	139231313		2203	4300	6503	SO:0001583	missense	9542				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity	g.chr5:139231313G>T		CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"""Immunoglobulin superfamily / I-set domain containing"""	7998	protein-coding gene	gene with protein product	"""neural- and thymus-derived activator for ErbB kinases"", ""divergent of neuregulin-1"""	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.1648C>A	5.37:g.139231313G>T	ENSP00000354910:p.Pro550Thr					NRG2_uc003lev.1_Missense_Mutation_p.P558T|NRG2_uc003lew.1_Missense_Mutation_p.P552T|NRG2_uc003ley.1_Missense_Mutation_p.P544T	p.P550T	NM_004883	NP_004874	O14511	NRG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		9	1873	-			550			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000361474.1	37	c.1648C>A	CCDS4217.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.276676	0.80580	.	.	ENSG00000158458	ENST00000541337;ENST00000289422;ENST00000361474;ENST00000446269;ENST00000545385;ENST00000340391;ENST00000289409;ENST00000358522	T;T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	5.3	4.42	0.53409	Neuregulin 1-related, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.76933	0.4057	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.78314	0.977;0.991;0.977;0.977	T	0.78971	-0.1993	10	0.66056	D	0.02	-17.7706	11.9772	0.53098	0.0805:0.0:0.9195:0.0	.	544;550;552;558	O14511-2;O14511;O14511-4;O14511-3	.;NRG2_HUMAN;.;.	T	484;558;550;558;552;347;544;552	ENSP00000444235:P484T;ENSP00000289422:P558T;ENSP00000354910:P550T;ENSP00000438753:P552T;ENSP00000342660:P347T;ENSP00000289409:P544T;ENSP00000351323:P552T	ENSP00000289409:P544T	P	-	1	0	NRG2	139211497	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	8.988000	0.93501	1.234000	0.43709	0.655000	0.94253	CCA		0.627	NRG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251340.1	NM_013982		7	25	1	0	0.00198382	0.00212623	7	25				
PCDHA4	56144	broad.mit.edu	37	5	140188217	140188217	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:140188217C>A	ENST00000530339.1	+	1	1445	c.1445C>A	c.(1444-1446)gCg>gAg	p.A482E	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.A482E|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.A482E	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	482	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTGGGACGCGGACGCGCAG	0.657																																						uc003lhi.2		NA																	0				ovary(4)|skin(2)	6						c.(1444-1446)GCG>GAG		protocadherin alpha 4 isoform 1 precursor							62.0	65.0	64.0					5																	140188217		2203	4300	6503	SO:0001583	missense	56144				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140188217C>A	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1445C>A	5.37:g.140188217C>A	ENSP00000435300:p.Ala482Glu					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.A482E|PCDHA4_uc011daa.1_Missense_Mutation_p.A482E	p.A482E	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1546	+			482			Cadherin 5.|Extracellular (Potential).		O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	c.1445C>A	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	c	10.51	1.370015	0.24771	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.61980	0.06;0.06;0.06	4.18	2.38	0.29361	Cadherin (4);Cadherin-like (1);	0.515983	0.13992	U	0.348750	T	0.59418	0.2192	L	0.35644	1.08	0.24394	N	0.994731	B;B;B	0.33807	0.197;0.285;0.426	B;P;B	0.44597	0.161;0.454;0.316	T	0.56080	-0.8038	10	0.72032	D	0.01	.	9.8686	0.41160	0.0:0.8284:0.0:0.1716	.	482;482;482	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	E	482	ENSP00000423470:A482E;ENSP00000349344:A482E;ENSP00000435300:A482E	ENSP00000349344:A482E	A	+	2	0	PCDHA4	140168401	0.000000	0.05858	0.774000	0.31636	0.359000	0.29487	0.490000	0.22403	0.368000	0.24481	-0.232000	0.12228	GCG		0.657	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		36	28	1	0	1.71e-08	2.12e-08	36	28				
PCDHA4	56144	broad.mit.edu	37	5	140188563	140188563	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:140188563G>A	ENST00000530339.1	+	1	1791	c.1791G>A	c.(1789-1791)gtG>gtA	p.V597V	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.V597V|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Silent_p.V597V	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	597	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGCGCGGTGGATGCTGACT	0.692																																						uc003lhi.2		NA																	0				ovary(4)|skin(2)	6						c.(1789-1791)GTG>GTA		protocadherin alpha 4 isoform 1 precursor							128.0	115.0	119.0					5																	140188563		2203	4299	6502	SO:0001819	synonymous_variant	56144				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140188563G>A	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1791G>A	5.37:g.140188563G>A						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.V597V|PCDHA4_uc011daa.1_Silent_p.V597V	p.V597V	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1892	+			597			Cadherin 6.|Extracellular (Potential).		O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	c.1791G>A	CCDS54916.1																																																																																				0.692	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		41	21	0	0	0	0	41	21				
PCDHA6	56142	broad.mit.edu	37	5	140209620	140209620	+	Silent	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:140209620G>T	ENST00000529310.1	+	1	2058	c.1944G>T	c.(1942-1944)ctG>ctT	p.L648L	PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_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	648	Cadherin 6. {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)			ACCGGCTGCTGGTGCTGGTGA	0.667																																						uc003lho.2		NA																	0				haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						c.(1942-1944)CTG>CTT		protocadherin alpha 6 isoform 1 precursor							41.0	48.0	46.0					5																	140209620		2203	4299	6502	SO:0001819	synonymous_variant	56142				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140209620G>T	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.1944G>T	5.37:g.140209620G>T						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_Intron|PCDHA6_uc011dab.1_Silent_p.L648L	p.L648L	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1971	+			648			Cadherin 6.|Extracellular (Potential).		O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	c.1944G>T	CCDS47281.1																																																																																				0.667	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		37	16	1	0	3.66e-26	5.52e-26	37	16				
PCDHA12	56137	broad.mit.edu	37	5	140257259	140257259	+	Silent	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:140257259G>T	ENST00000398631.2	+	1	2202	c.2202G>T	c.(2200-2202)ccG>ccT	p.P734P	PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	734	5 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGCGCGCCGGGCAAGCCCA	0.682																																					Pancreas(113;759 1672 13322 24104 50104)	uc003lic.2		NA																	0					0						c.(2200-2202)CCG>CCT		protocadherin alpha 12 isoform 1 precursor							28.0	28.0	28.0					5																	140257259		2201	4300	6501	SO:0001819	synonymous_variant	56137				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140257259G>T	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.2202G>T	5.37:g.140257259G>T						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_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.P734P	p.P734P	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2329	+			734			5 X 4 AA repeats of P-X-X-P.|Cytoplasmic (Potential).|PXXP 1.		O75278|Q2M1N8	Silent	SNP	ENST00000398631.2	37	c.2202G>T	CCDS47285.1																																																																																				0.682	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		13	2	1	0	4.37e-10	5.55e-10	13	2				
PCDHGA1	56114	broad.mit.edu	37	5	140712446	140712446	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:140712446T>A	ENST00000517417.1	+	1	2195	c.2195T>A	c.(2194-2196)tTa>tAa	p.L732*	PCDHGA1_ENST00000378105.3_Nonsense_Mutation_p.L732*	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	732					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGGCGGCTTAGCGAGCATG	0.652																																						uc003lji.1		NA																	0				ovary(1)|breast(1)|pancreas(1)	3						c.(2194-2196)TTA>TAA		protocadherin gamma subfamily A, 1 isoform 1							67.0	71.0	70.0					5																	140712446		2203	4300	6503	SO:0001587	stop_gained	56114				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140712446T>A	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.2195T>A	5.37:g.140712446T>A	ENSP00000431083:p.Leu732*					PCDHGA1_uc011dan.1_Nonsense_Mutation_p.L732*	p.L732*	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2195	+			732			Cytoplasmic (Potential).		Q2M273|Q9Y5D6	Nonsense_Mutation	SNP	ENST00000517417.1	37	c.2195T>A	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.056625	0.76074	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	.	.	.	3.84	2.68	0.31781	.	0.465175	0.15351	N	0.266964	.	.	.	.	.	.	0.58432	D	0.999996	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.7687	0.34719	0.0:0.0923:0.0:0.9077	.	.	.	.	X	732	.	ENSP00000367345:L732X	L	+	2	0	PCDHGA1	140692630	0.004000	0.15560	0.002000	0.10522	0.002000	0.02628	0.827000	0.27421	0.656000	0.30886	0.477000	0.44152	TTA		0.652	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		50	35	0	0	0	0	50	35				
PCDHGA2	56113	broad.mit.edu	37	5	140720611	140720611	+	Silent	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:140720611G>T	ENST00000394576.2	+	1	2073	c.2073G>T	c.(2071-2073)ctG>ctT	p.L691L	PCDHGA3_ENST00000253812.6_5'Flank|PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	691					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTCACTCTGTACCTGGTGG	0.677																																						uc003ljk.1		NA																	0				skin(2)|ovary(1)	3						c.(2071-2073)CTG>CTT		protocadherin gamma subfamily A, 2 isoform 1							104.0	111.0	109.0					5																	140720611		2203	4298	6501	SO:0001819	synonymous_variant	56113				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140720611G>T	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.2073G>T	5.37:g.140720611G>T						PCDHGA1_uc003lji.1_Intron|PCDHGA3_uc003ljm.1_5'Flank|PCDHGA3_uc010jfx.1_5'Flank|PCDHGA2_uc011dao.1_Silent_p.L691L|PCDHGA3_uc011dap.1_5'Flank	p.L691L	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2258	+			691			Extracellular (Potential).		Q52LL6|Q9Y5D5	Silent	SNP	ENST00000394576.2	37	c.2073G>T	CCDS47289.1																																																																																				0.677	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		84	53	1	0	1.53e-57	2.39e-57	84	53				
PCDHGB6	56100	broad.mit.edu	37	5	140789266	140789267	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:140789266_140789267GG>TT	ENST00000520790.1	+	1	1497_1498	c.1497_1498GG>TT	c.(1495-1500)ctGGcg>ctTTcg	p.A500S	PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	500	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L499L(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGAGCCCCTGGCGGTGTCGTC	0.639																																						uc003lkj.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1495-1500)CTGGCG>CTTTCG		protocadherin gamma subfamily B, 6 isoform 1																																				SO:0001583	missense	56100				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140789266_140789267GG>TT	AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		Exception_encountered	5.37:g.140789266_140789267delinsTT	ENSP00000428603:p.Ala500Ser					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Missense_Mutation_p.A500S	p.A500S	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1497_1498	+			500			Extracellular (Potential).|Cadherin 5.		Q9Y5C5	Missense_Mutation	DNP	ENST00000520790.1	37	c.1497_1498GG>TT	CCDS54929.1																																																																																				0.639	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926		15	7	0	0	0	0	15	7				
PCDHGA12	26025	broad.mit.edu	37	5	140811002	140811002	+	Missense_Mutation	SNP	G	G	A	rs376827063		TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:140811002G>A	ENST00000252085.3	+	1	818	c.676G>A	c.(676-678)Gcg>Acg	p.A226T	PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	226	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACAGGCACCGCGCGCATCCG	0.657																																						uc003lkt.1		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(676-678)GCG>ACG		protocadherin gamma subfamily A, 12 isoform 1		G	THR/ALA,,,,,,,,,,,,,,,,,,,,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	50.0	52.0	51.0		676,,,,,,,,,,,,,,,,,,,,676	1.9	0.6	5		51	0,8598		0,0,4299	no	missense,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,missense	PCDHGB4,PCDHGA8,PCDHGA12,PCDHGB7,PCDHGB6,PCDHGB5,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA11,PCDHGA10,PCDHGA9,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_003735.2,NM_003736.2,NM_018912.2,NM_018913.2,NM_018914.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018921.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_018925.2,NM_018926.2,NM_018927.3,NM_032088.1,NM_032092.1,NM_032094.1	58,,,,,,,,,,,,,,,,,,,,58	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	,,,,,,,,,,,,,,,,,,,,	226/933,,,,,,,,,,,,,,,,,,,,226/821	140811002	1,13003	2203	4299	6502	SO:0001583	missense	26025				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140811002G>A	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.676G>A	5.37:g.140811002G>A	ENSP00000252085:p.Ala226Thr					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.A226T	p.A226T	NM_003735	NP_003726	O60330	PCDGC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	845	+			226			Extracellular (Potential).|Cadherin 2.		O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	c.676G>A	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	g	8.960	0.970395	0.18659	2.27E-4	0.0	ENSG00000253159	ENST00000252085	T	0.01767	4.65	4.89	1.88	0.25563	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01592	0.0051	L	0.42581	1.335	0.09310	N	1	B;B	0.31435	0.276;0.323	B;B	0.24394	0.031;0.053	T	0.47849	-0.9085	9	0.23302	T	0.38	.	4.3588	0.11192	0.0761:0.1347:0.5135:0.2757	.	226;226	O60330-2;O60330	.;PCDGC_HUMAN	T	226	ENSP00000252085:A226T	ENSP00000252085:A226T	A	+	1	0	PCDHGA12	140791186	0.000000	0.05858	0.591000	0.28745	0.854000	0.48673	0.741000	0.26202	0.618000	0.30179	0.655000	0.94253	GCG		0.657	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		33	12	0	0	0	0	33	12				
ZNF300	91975	broad.mit.edu	37	5	150275854	150275854	+	Missense_Mutation	SNP	T	T	C	rs576694189		TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:150275854T>C	ENST00000274599.5	-	6	1367	c.947A>G	c.(946-948)cAg>cGg	p.Q316R	ZNF300_ENST00000394226.2_Missense_Mutation_p.Q316R|ZNF300_ENST00000446148.2_Missense_Mutation_p.Q332R|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000418587.2_Missense_Mutation_p.Q280R	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	316					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)			ATGAGTTCTCTGATGTACAAC	0.398																																						uc003lsy.1		NA																	0				ovary(1)|skin(1)	2						c.(946-948)CAG>CGG		zinc finger protein 300							96.0	100.0	99.0					5																	150275854		2203	4299	6502	SO:0001583	missense	91975				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:150275854T>C	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.947A>G	5.37:g.150275854T>C	ENSP00000274599:p.Gln316Arg					IRGM_uc011dcl.1_Intron	p.Q316R	NM_052860	NP_443092	Q96RE9	ZN300_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	1214	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	316			C2H2-type 2.		A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Missense_Mutation	SNP	ENST00000274599.5	37	c.947A>G	CCDS4311.2	.	.	.	.	.	.	.	.	.	.	T	14.66	2.601522	0.46423	.	.	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000418587;ENST00000394226	T;T;T;T	0.07327	3.2;3.2;3.2;3.2	3.59	3.59	0.41128	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06462	0.0166	N	0.11023	0.085	0.23361	N	0.997833	P	0.46277	0.875	P	0.44897	0.463	T	0.31447	-0.9943	9	0.54805	T	0.06	.	10.4444	0.44486	0.0:0.0:0.0:1.0	.	316	Q96RE9	ZN300_HUMAN	R	332;316;280;316	ENSP00000397178:Q332R;ENSP00000274599:Q316R;ENSP00000392593:Q280R;ENSP00000377773:Q316R	ENSP00000274599:Q316R	Q	-	2	0	ZNF300	150256047	0.690000	0.27699	1.000000	0.80357	0.996000	0.88848	0.972000	0.29409	1.633000	0.50488	0.460000	0.39030	CAG		0.398	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_052860		69	43	0	0	0	0	69	43				
GRIA1	2890	broad.mit.edu	37	5	153077675	153077675	+	Silent	SNP	A	A	T	rs368699188		TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:153077675A>T	ENST00000285900.5	+	9	1549	c.1206A>T	c.(1204-1206)tcA>tcT	p.S402S	GRIA1_ENST00000340592.5_Silent_p.S402S|GRIA1_ENST00000521843.2_Silent_p.S333S|GRIA1_ENST00000448073.4_Silent_p.S412S|GRIA1_ENST00000518142.1_Silent_p.S322S|GRIA1_ENST00000518783.1_Silent_p.S412S	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	402					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	GCGATAATTCAAGTGTTCAGA	0.458																																						uc003lva.3		NA																	0				ovary(4)|skin(2)	6						c.(1204-1206)TCA>TCT		glutamate receptor, ionotropic, AMPA 1 isoform	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	A	,	1,4405	2.1+/-5.4	0,1,2202	100.0	92.0	95.0		1206,1206	-3.0	1.0	5		95	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	GRIA1	NM_000827.3,NM_001114183.1	,	0,1,6502	TT,TA,AA		0.0,0.0227,0.0077	,	402/907,402/907	153077675	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2890				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153077675A>T		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.1206A>T	5.37:g.153077675A>T						GRIA1_uc003luy.3_Silent_p.S402S|GRIA1_uc003luz.3_Silent_p.S307S|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Silent_p.S322S|GRIA1_uc011dcx.1_Silent_p.S333S|GRIA1_uc011dcy.1_Silent_p.S412S|GRIA1_uc011dcz.1_Silent_p.S412S|GRIA1_uc010jia.1_Silent_p.S382S	p.S402S	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		9	1571	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	402			Extracellular (Potential).		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Silent	SNP	ENST00000285900.5	37	c.1206A>T	CCDS4322.1																																																																																				0.458	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			16	15	0	0	0	0	16	15				
SGCD	6444	broad.mit.edu	37	5	156184595	156184595	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:156184595G>T	ENST00000435422.3	+	7	1063	c.576G>T	c.(574-576)ttG>ttT	p.L192F	SGCD_ENST00000447401.1_Missense_Mutation_p.L193F|SGCD_ENST00000337851.4_Missense_Mutation_p.L193F|SGCD_ENST00000517913.1_Missense_Mutation_p.L193F	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	192					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTTTCAGGTTGGAGTCCCCAA	0.443																																						uc003lwd.3		NA																	0					0						c.(574-576)TTG>TTT		delta-sarcoglycan isoform 3							44.0	42.0	43.0					5																	156184595		1825	4089	5914	SO:0001583	missense	6444				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma		g.chr5:156184595G>T	BX537948	CCDS47325.1, CCDS47326.1, CCDS47327.1	5q33-q34	2014-09-17	2002-08-29						10807	protein-coding gene	gene with protein product		601411	"""sarcoglycan, delta (35kD dystrophin-associated glycoprotein)"""			8776597, 8841194, 10974018	Standard	NM_000337		Approved	DAGD, LGMD2F, CMD1L	uc003lwd.4	Q92629		ENST00000435422.3:c.576G>T	5.37:g.156184595G>T	ENSP00000403003:p.Leu192Phe					SGCD_uc003lwb.2_Missense_Mutation_p.L193F|SGCD_uc003lwc.3_Missense_Mutation_p.L193F	p.L192F	NM_001128209	NP_001121681	Q92629	SGCD_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		7	1052	+	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	192			Extracellular (Potential).		A8K9S9|Q53XA5|Q99644	Missense_Mutation	SNP	ENST00000435422.3	37	c.576G>T	CCDS47327.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.893916	0.72639	.	.	ENSG00000170624	ENST00000517913;ENST00000435422;ENST00000337851;ENST00000447401	D;D;D;D	0.97161	-4.27;-4.27;-4.27;-4.27	5.56	2.27	0.28462	.	0.000000	0.64402	D	0.000001	D	0.97864	0.9298	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.87578	0.998;0.996;0.997	D	0.97729	1.0201	10	0.87932	D	0	-20.3531	10.6799	0.45809	0.0:0.1862:0.5379:0.276	.	192;193;193	Q92629;Q92629-2;Q92629-3	SGCD_HUMAN;.;.	F	193;192;193;193	ENSP00000429378:L193F;ENSP00000403003:L192F;ENSP00000338343:L193F;ENSP00000408324:L193F	ENSP00000338343:L193F	L	+	3	2	SGCD	156117173	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.059000	0.30517	1.297000	0.44761	0.655000	0.94253	TTG		0.443	SGCD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000373469.3			9	2	1	0	2.81e-09	3.52e-09	9	2				
ZBED8	63920	broad.mit.edu	37	5	159821207	159821207	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:159821207C>A	ENST00000408953.3	-	2	1798	c.1291G>T	c.(1291-1293)Gaa>Taa	p.E431*	C5orf54_ENST00000523213.1_Nonsense_Mutation_p.E431*	NM_022090.3	NP_071373.2														breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						attatttcttcaagaaaagga	0.328																																						uc003lye.1		NA																	0				pancreas(1)	1						c.(1291-1293)GAA>TAA		transposon-derived Buster3 transposase-like							52.0	55.0	54.0					5																	159821207		2202	4295	6497	SO:0001587	stop_gained	63920							g.chr5:159821207C>A																												ENST00000408953.3:c.1291G>T	5.37:g.159821207C>A	ENSP00000386184:p.Glu431*					C5orf54_uc003lyf.1_Nonsense_Mutation_p.E431*	p.E431*	NM_022090	NP_071373	Q8IZ13	CE054_HUMAN			2	1755	-			431						Nonsense_Mutation	SNP	ENST00000408953.3	37	c.1291G>T	CCDS34283.1	.	.	.	.	.	.	.	.	.	.	C	39	7.577962	0.98368	.	.	ENSG00000221886	ENST00000408953;ENST00000523213	.	.	.	3.01	3.01	0.34805	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.7584	0.40517	0.0:1.0:0.0:0.0	.	.	.	.	X	431	.	ENSP00000386184:E431X	E	-	1	0	C5orf54	159753785	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.078000	0.30754	2.001000	0.58596	0.655000	0.94253	GAA		0.328	C5orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374143.1			38	20	1	0	1.41e-09	1.78e-09	38	20				
ATP10B	23120	broad.mit.edu	37	5	160029629	160029629	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:160029629G>A	ENST00000327245.5	-	21	4164	c.3318C>T	c.(3316-3318)taC>taT	p.Y1106Y		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1106					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCAGGCGCGAGTAACACCAGT	0.567																																						uc003lym.1		NA																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(3316-3318)TAC>TAT		ATPase, class V, type 10B							65.0	70.0	68.0					5																	160029629		2110	4226	6336	SO:0001819	synonymous_variant	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160029629G>A	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.3318C>T	5.37:g.160029629G>A						ATP10B_uc010jit.1_Silent_p.Y423Y	p.Y1106Y	NM_025153	NP_079429	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		21	4165	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	1106			Cytoplasmic (Potential).		Q9H725	Silent	SNP	ENST00000327245.5	37	c.3318C>T	CCDS43394.1																																																																																				0.567	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		22	10	0	0	0	0	22	10				
ATP10B	23120	broad.mit.edu	37	5	160033898	160033898	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:160033898C>A	ENST00000327245.5	-	19	3880	c.3034G>T	c.(3034-3036)Gag>Tag	p.E1012*		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1012					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AACTTCTTCTCTAGCTTTCCC	0.507																																						uc003lym.1		NA																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(3034-3036)GAG>TAG		ATPase, class V, type 10B							117.0	119.0	118.0					5																	160033898		2025	4170	6195	SO:0001587	stop_gained	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160033898C>A	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.3034G>T	5.37:g.160033898C>A	ENSP00000313600:p.Glu1012*					ATP10B_uc010jit.1_Nonsense_Mutation_p.E329*	p.E1012*	NM_025153	NP_079429	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		19	3881	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	1012			Cytoplasmic (Potential).		Q9H725	Nonsense_Mutation	SNP	ENST00000327245.5	37	c.3034G>T	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	C	49	15.888287	0.99848	.	.	ENSG00000118322	ENST00000327245	.	.	.	5.05	5.05	0.67936	.	0.061168	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4169	0.87503	0.0:1.0:0.0:0.0	.	.	.	.	X	1012	.	.	E	-	1	0	ATP10B	159966476	0.999000	0.42202	1.000000	0.80357	0.965000	0.64279	1.088000	0.30877	2.344000	0.79699	0.563000	0.77884	GAG		0.507	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		51	40	1	0	4.86e-25	7.28e-25	51	40				
TENM2	57451	broad.mit.edu	37	5	167655022	167655022	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:167655022A>G	ENST00000518659.1	+	25	5446	c.5407A>G	c.(5407-5409)Att>Gtt	p.I1803V	TENM2_ENST00000545108.1_Missense_Mutation_p.I1802V|TENM2_ENST00000403607.2_Missense_Mutation_p.I1627V|TENM2_ENST00000520394.1_Missense_Mutation_p.I1564V|TENM2_ENST00000519204.1_Missense_Mutation_p.I1682V|CTB-178M22.2_ENST00000519795.1_RNA	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1803					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CACCCCCACCATTGGACGCTG	0.512																																						uc010jjd.2		NA																	0				ovary(6)|central_nervous_system(4)	10						c.(5380-5382)ATT>GTT		odz, odd Oz/ten-m homolog 2							51.0	54.0	53.0					5																	167655022		2050	4201	6251	SO:0001583	missense	57451							g.chr5:167655022A>G	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.5407A>G	5.37:g.167655022A>G	ENSP00000429430:p.Ile1803Val					ODZ2_uc003lzr.3_Missense_Mutation_p.I1564V|ODZ2_uc003lzt.3_Missense_Mutation_p.I1167V|ODZ2_uc010jje.2_Missense_Mutation_p.I1058V	p.I1794V	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	25	5380	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.5380A>G		.	.	.	.	.	.	.	.	.	.	A	7.151	0.583821	0.13749	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.88896	-1.96;-1.95;-2.06;-2.44;-2.43	5.66	5.66	0.87406	.	0.090234	0.85682	N	0.000000	D	0.84570	0.5501	N	0.05510	-0.035	0.45354	D	0.998345	B;B;P	0.44090	0.012;0.007;0.826	B;B;P	0.57009	0.023;0.007;0.811	T	0.81028	-0.1118	10	0.02654	T	1	.	15.8895	0.79286	1.0:0.0:0.0:0.0	.	1802;1803;1564	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	V	1803;1802;1682;1564;1627	ENSP00000429430:I1803V;ENSP00000438635:I1802V;ENSP00000428964:I1682V;ENSP00000427874:I1564V;ENSP00000384905:I1627V	ENSP00000384905:I1627V	I	+	1	0	ODZ2	167587600	1.000000	0.71417	0.996000	0.52242	0.939000	0.58152	6.354000	0.73036	2.153000	0.67306	0.459000	0.35465	ATT		0.512	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		14	5	0	0	0	0	14	5				
HK3	3101	broad.mit.edu	37	5	176318482	176318482	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:176318482C>G	ENST00000292432.5	-	3	257	c.166G>C	c.(166-168)Ggt>Cgt	p.G56R		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	56	Hexokinase type-1 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCATGGAACCCAAGAGGCTG	0.627																																						uc003mfa.2		NA																	0				ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	7						c.(166-168)GGT>CGT		hexokinase 3							81.0	78.0	79.0					5																	176318482		2203	4300	6503	SO:0001583	missense	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176318482C>G		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.166G>C	5.37:g.176318482C>G	ENSP00000292432:p.Gly56Arg					HK3_uc003mez.2_5'Flank	p.G56R	NM_002115	NP_002106	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	258	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	56			Regulatory.		Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	37	c.166G>C	CCDS4407.1	.	.	.	.	.	.	.	.	.	.	C	5.187	0.220134	0.09863	.	.	ENSG00000160883	ENST00000292432	D	0.98164	-4.76	4.57	-1.69	0.08186	Hexokinase, N-terminal (1);	1.464880	0.04083	N	0.310010	D	0.89935	0.6859	N	0.01576	-0.805	0.09310	N	0.999999	B	0.06786	0.001	B	0.06405	0.002	D	0.86083	0.1545	10	0.23302	T	0.38	0.1059	0.2051	0.00149	0.2924:0.1755:0.2726:0.2595	.	56	P52790	HXK3_HUMAN	R	56	ENSP00000292432:G56R	ENSP00000292432:G56R	G	-	1	0	HK3	176251088	0.000000	0.05858	0.027000	0.17364	0.831000	0.47069	-1.758000	0.01810	-0.170000	0.10816	0.462000	0.41574	GGT		0.627	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1			30	28	0	0	0	0	30	28				
ZNF346	23567	broad.mit.edu	37	5	176489129	176489129	+	Silent	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:176489129C>T	ENST00000358149.3	+	6	817	c.774C>T	c.(772-774)gtC>gtT	p.V258V	ZNF346_ENST00000506693.1_Silent_p.V160V|ZNF346_ENST00000511834.1_Silent_p.V274V|ZNF346_ENST00000503425.1_Silent_p.V226V|ZNF346_ENST00000261948.4_Silent_p.V283V|ZNF346_ENST00000503039.1_Silent_p.V283V|ZNF346_ENST00000512315.1_Silent_p.V82V	NM_012279.2	NP_036411.1	Q9UL40	ZN346_HUMAN	zinc finger protein 346	258					positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	14	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGCTCATGTCAGCGGCTTCA	0.423																																						uc003mfi.2		NA																	0					0						c.(772-774)GTC>GTT		zinc finger protein 346							166.0	162.0	163.0					5																	176489129		2203	4300	6503	SO:0001819	synonymous_variant	23567					cytoplasm|nucleolus	double-stranded RNA binding|zinc ion binding	g.chr5:176489129C>T	AF083340	CCDS4409.1	5q35.3	2012-10-05			ENSG00000113761	ENSG00000113761			16403	protein-coding gene	gene with protein product		605308				10488071	Standard	NM_012279		Approved	JAZ, Zfp346	uc003mfi.3	Q9UL40	OTTHUMG00000130848	ENST00000358149.3:c.774C>T	5.37:g.176489129C>T						ZNF346_uc011dfr.1_Silent_p.V226V|ZNF346_uc011dfs.1_Silent_p.V160V|ZNF346_uc003mfj.2_Silent_p.V82V|ZNF346_uc003mfk.1_Silent_p.V283V|ZNF346_uc011dft.1_Silent_p.V82V	p.V258V	NM_012279	NP_036411	Q9UL40	ZN346_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	817	+	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	258			Matrin-type 4.		B7Z367|Q68CV9|Q6ZMW1	Silent	SNP	ENST00000358149.3	37	c.774C>T	CCDS4409.1																																																																																				0.423	ZNF346-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253415.2	NM_012279		66	48	0	0	0	0	66	48				
ADAMTS2	9509	broad.mit.edu	37	5	178770807	178770807	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:178770807G>A	ENST00000251582.7	-	2	596	c.495C>T	c.(493-495)gcC>gcT	p.A165A	ADAMTS2_ENST00000274609.5_Silent_p.A165A	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	165					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		AGGAGGCTTCGGCTAGGCCGG	0.652																																						uc003mjw.2		NA																	0				large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(493-495)GCC>GCT		ADAM metallopeptidase with thrombospondin type 1							12.0	13.0	13.0					5																	178770807		2080	4123	6203	SO:0001819	synonymous_variant	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178770807G>A	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.495C>T	5.37:g.178770807G>A						ADAMTS2_uc011dgm.1_Silent_p.A165A	p.A165A	NM_014244	NP_055059	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	2	495	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	165						Silent	SNP	ENST00000251582.7	37	c.495C>T	CCDS4444.1																																																																																				0.652	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		6	8	0	0	0	0	6	8				
JARID2	3720	broad.mit.edu	37	6	15468903	15468903	+	Silent	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:15468903G>T	ENST00000341776.2	+	5	868	c.624G>T	c.(622-624)tcG>tcT	p.S208S	JARID2_ENST00000541660.1_Silent_p.S170S|JARID2_ENST00000397311.3_Silent_p.S36S	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	208					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CATGCCAGTCGACCCCCAGGA	0.468																																						uc003nbj.2		NA																	0				ovary(2)|lung(1)|pancreas(1)	4						c.(622-624)TCG>TCT		jumonji, AT rich interactive domain 2 protein							132.0	110.0	118.0					6																	15468903		2203	4300	6503	SO:0001819	synonymous_variant	3720				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	g.chr6:15468903G>T	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.624G>T	6.37:g.15468903G>T						JARID2_uc011diu.1_Silent_p.S72S|JARID2_uc011div.1_Silent_p.S36S|JARID2_uc011diw.1_Silent_p.S170S	p.S208S	NM_004973	NP_004964	Q92833	JARD2_HUMAN			5	868	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	208					A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Silent	SNP	ENST00000341776.2	37	c.624G>T	CCDS4533.1																																																																																				0.468	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		37	57	1	0	3.72e-46	5.78e-46	37	57				
OR2B6	26212	broad.mit.edu	37	6	27925284	27925284	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:27925284G>A	ENST00000244623.1	+	1	266	c.266G>A	c.(265-267)aGg>aAg	p.R89K		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	89						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGCAGCATCAGGAAAGTAATC	0.428																																						uc011dkx.1		NA																	0				skin(1)	1						c.(265-267)AGG>AAG		olfactory receptor, family 2, subfamily B,							85.0	81.0	82.0					6																	27925284		2203	4299	6502	SO:0001583	missense	26212				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27925284G>A	U86275	CCDS4642.1	6p22.1	2012-08-09			ENSG00000124657	ENSG00000124657		"""GPCR / Class A : Olfactory receptors"""	8241	protein-coding gene	gene with protein product				OR2B6P, OR2B1, OR2B1P, OR2B5		9500546	Standard	NM_012367		Approved	OR6-31, dJ408B20.2, OR5-40, OR5-41	uc011dkx.2	P58173	OTTHUMG00000014497	ENST00000244623.1:c.266G>A	6.37:g.27925284G>A	ENSP00000244623:p.Arg89Lys						p.R89K	NM_012367	NP_036499	P58173	OR2B6_HUMAN			1	266	+			89			Extracellular (Potential).		O43883|Q6IF89|Q9H5B0	Missense_Mutation	SNP	ENST00000244623.1	37	c.266G>A	CCDS4642.1	.	.	.	.	.	.	.	.	.	.	g	1.986	-0.432890	0.04669	.	.	ENSG00000124657	ENST00000244623	T	0.01335	5.0	3.68	2.79	0.32731	GPCR, rhodopsin-like superfamily (1);	0.277746	0.19103	U	0.122652	T	0.00328	0.0010	N	0.04148	-0.265	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.50363	-0.8837	10	0.25106	T	0.35	.	8.4157	0.32670	0.121:0.0:0.879:0.0	.	89	P58173	OR2B6_HUMAN	K	89	ENSP00000244623:R89K	ENSP00000244623:R89K	R	+	2	0	OR2B6	28033263	0.000000	0.05858	0.110000	0.21437	0.093000	0.18481	0.272000	0.18644	1.964000	0.57103	0.563000	0.77884	AGG		0.428	OR2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040165.1			30	16	0	0	0	0	30	16				
COL11A2	1302	broad.mit.edu	37	6	33146751	33146751	+	Splice_Site	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:33146751C>A	ENST00000374708.4	-	15	1612		c.e15-1		COL11A2_ENST00000341947.2_Splice_Site|COL11A2_ENST00000395197.1_Splice_Site|COL11A2_ENST00000361917.1_Splice_Site|COL11A2_ENST00000357486.1_Splice_Site|COL11A2_ENST00000374713.1_Splice_Site|COL11A2_ENST00000374714.1_Splice_Site|COL11A2_ENST00000374712.1_Splice_Site|COL11A2_ENST00000477772.1_5'Flank	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2						cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CTGCCCGGCCCTGGGAGAACA	0.647																																					Melanoma(1;90 116 3946 5341 17093)	uc003ocx.1		NA																	0				ovary(3)|skin(2)	5						c.e17-1		collagen, type XI, alpha 2 isoform 1							50.0	47.0	48.0					6																	33146751		1511	2709	4220	SO:0001630	splice_region_variant	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33146751C>A	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.1354-1G>T	6.37:g.33146751C>A						COL11A2_uc010jul.1_5'Flank|COL11A2_uc003ocy.1_Splice_Site_p.G452_splice|COL11A2_uc003ocz.1_Splice_Site_p.G431_splice	p.G538_splice	NM_080680	NP_542411	P13942	COBA2_HUMAN			17	1840	-								A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Splice_Site	SNP	ENST00000374708.4	37	c.1612_splice	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867659	0.72065	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917;ENST00000457788	.	.	.	4.47	4.47	0.54385	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6686	0.68926	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL11A2	33254729	1.000000	0.71417	0.997000	0.53966	0.860000	0.49131	7.121000	0.77160	2.324000	0.78689	0.448000	0.29417	.		0.647	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2		Intron	16	11	1	0	0.00400662	0.00426668	16	11				
RGL2	5863	broad.mit.edu	37	6	33264212	33264212	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:33264212T>C	ENST00000497454.1	-	5	944	c.449A>G	c.(448-450)gAc>gGc	p.D150G	RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000444031.2_Missense_Mutation_p.D68G	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	150	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						CTCTAGTTCGTCGGTAGGATG	0.522																																						uc003odv.2		NA																	0				skin(3)|lung(1)|breast(1)|pancreas(1)	6						c.(448-450)GAC>GGC		ral guanine nucleotide dissociation							110.0	108.0	108.0					6																	33264212		2203	4300	6503	SO:0001583	missense	5863				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr6:33264212T>C		CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"""RAB2, member RAS oncogene family-like"""	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.449A>G	6.37:g.33264212T>C	ENSP00000420211:p.Asp150Gly					RGL2_uc003odu.2_5'Flank|RGL2_uc010jur.2_5'UTR|RGL2_uc003odw.2_Missense_Mutation_p.D68G|RGL2_uc011drb.1_Missense_Mutation_p.D68G	p.D150G	NM_004761	NP_004752	O15211	RGL2_HUMAN			5	582	-			150			N-terminal Ras-GEF.		B4DG72|Q5STK0|Q9Y3F3	Missense_Mutation	SNP	ENST00000497454.1	37	c.449A>G	CCDS4774.1	.	.	.	.	.	.	.	.	.	.	T	0.348	-0.946338	0.02304	.	.	ENSG00000237441	ENST00000497454;ENST00000421215;ENST00000444031	T;T	0.31247	1.5;1.5	4.42	0.413	0.16401	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.414969	0.25461	N	0.030502	T	0.06096	0.0158	L	0.28649	0.875	0.19775	N	0.999957	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.37009	-0.9724	10	0.29301	T	0.29	.	5.1267	0.14888	0.0:0.1969:0.1546:0.6485	.	68;150	B4DG72;O15211	.;RGL2_HUMAN	G	150;14;68	ENSP00000420211:D150G;ENSP00000403070:D68G	ENSP00000400083:D14G	D	-	2	0	RGL2	33372190	0.002000	0.14202	0.258000	0.24420	0.026000	0.11368	0.017000	0.13399	-0.032000	0.13758	-1.171000	0.01739	GAC		0.522	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076098.2			33	18	0	0	0	0	33	18				
LRFN2	57497	broad.mit.edu	37	6	40399511	40399511	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:40399511G>A	ENST00000338305.6	-	2	1884	c.1342C>T	c.(1342-1344)Cgg>Tgg	p.R448W		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	448	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					ATCTTCACCCGGGGTGCTGAC	0.592																																						uc003oph.1		NA																	0				ovary(2)|skin(1)	3						c.(1342-1344)CGG>TGG		leucine rich repeat and fibronectin type III							61.0	62.0	62.0					6																	40399511		2203	4300	6503	SO:0001583	missense	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40399511G>A	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.1342C>T	6.37:g.40399511G>A	ENSP00000345985:p.Arg448Trp						p.R448W	NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN			2	1807	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		448			Fibronectin type-III.|Extracellular (Potential).		A5PKU3|Q5SYP9	Missense_Mutation	SNP	ENST00000338305.6	37	c.1342C>T	CCDS34443.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.871825	0.51695	.	.	ENSG00000156564	ENST00000338305	T	0.57595	0.39	5.51	4.46	0.54185	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.059468	0.64402	D	0.000001	T	0.43211	0.1237	N	0.22421	0.69	0.43508	D	0.995762	D	0.69078	0.997	P	0.61658	0.892	T	0.52079	-0.8623	10	0.72032	D	0.01	.	12.0823	0.53677	0.0:0.0:0.5806:0.4194	.	448	Q9ULH4	LRFN2_HUMAN	W	448	ENSP00000345985:R448W	ENSP00000345985:R448W	R	-	1	2	LRFN2	40507489	0.994000	0.37717	0.691000	0.30163	0.998000	0.95712	2.813000	0.48002	0.959000	0.37980	0.655000	0.94253	CGG		0.592	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		11	37	0	0	0	0	11	37				
TFEB	7942	broad.mit.edu	37	6	41653831	41653831	+	Silent	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:41653831G>T	ENST00000230323.4	-	9	1249	c.948C>A	c.(946-948)atC>atA	p.I316I	TFEB_ENST00000373033.1_Silent_p.I316I|TFEB_ENST00000358871.2_Silent_p.I330I|TFEB_ENST00000403298.4_Silent_p.I316I|TFEB_ENST00000420312.1_Silent_p.I231I|AL035588.1_ENST00000597468.1_5'Flank	NM_001271945.1|NM_007162.2	NP_001258874.1|NP_009093.1	P19484	TFEB_HUMAN	transcription factor EB	316	Leucine-zipper.				autophagy (GO:0006914)|embryonic placenta development (GO:0001892)|humoral immune response (GO:0006959)|lysosome organization (GO:0007040)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			ACCAGACCTGGATACGGAGCC	0.537			T	ALPHA	renal (childhood epithelioid)																																	uc003oqs.1		NA		Dom	yes		6	6p21	7942	T	transcription factor EB			"""E,M"""	ALPHA		renal (childhood epithelioid)		0				ovary(1)	1						c.(946-948)ATC>ATA		transcription factor EB							123.0	105.0	111.0					6																	41653831		2203	4300	6503	SO:0001819	synonymous_variant	7942				embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr6:41653831G>T	M33782	CCDS4858.1, CCDS64424.1, CCDS64425.1	6p21	2013-05-21			ENSG00000112561	ENSG00000112561		"""Basic helix-loop-helix proteins"""	11753	protein-coding gene	gene with protein product		600744				2115126	Standard	NM_007162		Approved	TCFEB, bHLHe35	uc003oqu.2	P19484	OTTHUMG00000014684	ENST00000230323.4:c.948C>A	6.37:g.41653831G>T						TFEB_uc003oqt.1_Silent_p.I316I|TFEB_uc003oqu.1_Silent_p.I330I|TFEB_uc003oqr.1_Silent_p.I231I	p.I316I	NM_007162	NP_009093	P19484	TFEB_HUMAN	Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)		9	1250	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		316			Leucine-zipper.		Q709B3|Q7Z6P9|Q9BRJ5|Q9UJD8	Silent	SNP	ENST00000230323.4	37	c.948C>A	CCDS4858.1																																																																																				0.537	TFEB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040522.3			15	61	1	0	3.41e-10	4.34e-10	15	61				
CUL7	9820	broad.mit.edu	37	6	43020081	43020081	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:43020081C>T	ENST00000265348.3	-	2	531	c.446G>A	c.(445-447)aGc>aAc	p.S149N	CUL7_ENST00000535468.1_Missense_Mutation_p.S201N			Q14999	CUL7_HUMAN	cullin 7	149					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGGCTCAATGCTGGCATAGGC	0.557																																						uc003otq.2		NA																	0				ovary(3)|kidney(1)	4						c.(445-447)AGC>AAC		cullin 7							64.0	56.0	59.0					6																	43020081		2203	4300	6503	SO:0001583	missense	9820				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	g.chr6:43020081C>T	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.446G>A	6.37:g.43020081C>T	ENSP00000265348:p.Ser149Asn					CUL7_uc011dvb.1_Missense_Mutation_p.S201N|CUL7_uc010jyh.2_Intron|KLC4_uc003otr.1_Intron	p.S149N	NM_014780	NP_055595	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		2	749	-			149					B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	ENST00000265348.3	37	c.446G>A	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.755621	0.89843	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.66638	0.88;-0.22	5.51	5.51	0.81932	Armadillo-like helical (1);	0.156649	0.64402	D	0.000020	T	0.70107	0.3186	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69479	0.964;0.96	T	0.74016	-0.3800	10	0.87932	D	0	-3.8951	19.3848	0.94553	0.0:1.0:0.0:0.0	.	201;149	F5H0L1;Q14999	.;CUL7_HUMAN	N	149;201	ENSP00000265348:S149N;ENSP00000438788:S201N	ENSP00000265348:S149N	S	-	2	0	CUL7	43128059	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.710000	0.84655	2.576000	0.86940	0.561000	0.74099	AGC		0.557	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		4	35	0	0	0	0	4	35				
PTK7	5754	broad.mit.edu	37	6	43109969	43109969	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:43109969G>T	ENST00000230419.4	+	13	2200	c.1979G>T	c.(1978-1980)gGc>gTc	p.G660V	PTK7_ENST00000352931.2_Intron|PTK7_ENST00000481273.1_Missense_Mutation_p.G668V|PTK7_ENST00000349241.2_Missense_Mutation_p.G530V|PTK7_ENST00000345201.2_Missense_Mutation_p.G620V	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	660	Ig-like C2-type 7.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GAGGACTCAGGCCGCTACACC	0.607																																						uc003oub.1		NA																	0				ovary(2)|large_intestine(1)	3						c.(1978-1980)GGC>GTC		PTK7 protein tyrosine kinase 7 isoform a							72.0	66.0	68.0					6																	43109969		2203	4300	6503	SO:0001583	missense	5754				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:43109969G>T	AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9618	protein-coding gene	gene with protein product		601890	"""PTK7 protein tyrosine kinase 7"""			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.1979G>T	6.37:g.43109969G>T	ENSP00000230419:p.Gly660Val					PTK7_uc003ouc.1_Intron|PTK7_uc003oud.1_Missense_Mutation_p.G620V|PTK7_uc003oue.1_Missense_Mutation_p.G530V|PTK7_uc003ouf.1_RNA|PTK7_uc003oug.1_RNA|PTK7_uc011dve.1_Missense_Mutation_p.G668V|PTK7_uc010jyj.1_Intron	p.G660V	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		13	2177	+			660			Ig-like C2-type 7.|Extracellular (Potential).		A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Missense_Mutation	SNP	ENST00000230419.4	37	c.1979G>T	CCDS4884.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.727756	0.89390	.	.	ENSG00000112655	ENST00000230419;ENST00000349241;ENST00000345201;ENST00000481273	T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47	4.96	4.96	0.65561	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93357	0.7882	H	0.98370	4.215	0.80722	D	1	D;D;D;D	0.76494	0.998;0.999;0.984;0.987	D;D;D;D	0.79784	0.993;0.984;0.961;0.977	D	0.95212	0.8326	10	0.51188	T	0.08	.	18.2198	0.89898	0.0:0.0:1.0:0.0	.	668;530;620;660	E9PFZ5;Q13308-3;Q13308-2;Q13308	.;.;.;PTK7_HUMAN	V	660;530;620;668	ENSP00000230419:G660V;ENSP00000325462:G530V;ENSP00000325992:G620V;ENSP00000418754:G668V	ENSP00000230418:G660V	G	+	2	0	PTK7	43217947	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	9.589000	0.98235	2.294000	0.77228	0.467000	0.42956	GGC		0.607	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2			27	40	1	0	4.75e-14	6.43e-14	27	40				
TINAG	27283	broad.mit.edu	37	6	54191661	54191661	+	Missense_Mutation	SNP	C	C	T	rs115438249	byFrequency	TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:54191661C>T	ENST00000259782.4	+	4	667	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C	TINAG_ENST00000370869.3_Missense_Mutation_p.R187C|TINAG_ENST00000370864.3_Missense_Mutation_p.R173C	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	191					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.R191C(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TTTTAAATTTCGCCTTGGCAC	0.373																																						uc003pcj.2		NA																	1	Substitution - Missense(1)		cervix(1)	ovary(3)|central_nervous_system(1)	4						c.(571-573)CGC>TGC		tubulointerstitial nephritis antigen		C	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	139.0	126.0	131.0		571	5.8	1.0	6	dbSNP_133	131	0,8600		0,0,4300	yes	missense	TINAG	NM_014464.3	180	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	191/477	54191661	2,13004	2203	4300	6503	SO:0001583	missense	27283				cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	g.chr6:54191661C>T	AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.571C>T	6.37:g.54191661C>T	ENSP00000259782:p.Arg191Cys					TINAG_uc010jzt.2_RNA	p.R191C	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.246)		4	717	+	Lung NSC(77;0.0518)		191					Q5T467|Q9UJW1|Q9ULZ4	Missense_Mutation	SNP	ENST00000259782.4	37	c.571C>T	CCDS4955.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.999074	0.74818	4.54E-4	0.0	ENSG00000137251	ENST00000370869;ENST00000339741;ENST00000259782;ENST00000370864	T;T;T	0.77877	-1.13;-1.13;-1.13	5.82	5.82	0.92795	.	0.349950	0.28544	N	0.014979	D	0.86506	0.5949	M	0.85462	2.755	0.58432	D	0.999999	D	0.89917	1.0	D	0.63957	0.92	D	0.88133	0.2839	10	0.87932	D	0	.	15.6145	0.76753	0.0:1.0:0.0:0.0	.	191	Q9UJW2	TINAG_HUMAN	C	187;141;191;173	ENSP00000359906:R187C;ENSP00000259782:R191C;ENSP00000359901:R173C	ENSP00000259782:R191C	R	+	1	0	TINAG	54299620	0.997000	0.39634	0.967000	0.41034	0.737000	0.42083	4.282000	0.58971	2.751000	0.94390	0.643000	0.83706	CGC		0.373	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464		26	38	0	0	0	0	26	38				
TINAG	27283	broad.mit.edu	37	6	54214671	54214671	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:54214671C>A	ENST00000259782.4	+	7	1153	c.1057C>A	c.(1057-1059)Cct>Act	p.P353T		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	353					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TCAATGTTCTCCTCCATACAG	0.408																																						uc003pcj.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(1057-1059)CCT>ACT		tubulointerstitial nephritis antigen							114.0	109.0	110.0					6																	54214671		2203	4300	6503	SO:0001583	missense	27283				cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	g.chr6:54214671C>A	AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.1057C>A	6.37:g.54214671C>A	ENSP00000259782:p.Pro353Thr					TINAG_uc010jzt.2_RNA	p.P353T	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.246)		7	1203	+	Lung NSC(77;0.0518)		353					Q5T467|Q9UJW1|Q9ULZ4	Missense_Mutation	SNP	ENST00000259782.4	37	c.1057C>A	CCDS4955.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.627521	0.87560	.	.	ENSG00000137251	ENST00000339741;ENST00000259782;ENST00000370865	D	0.83673	-1.75	5.87	5.87	0.94306	Peptidase C1A, papain C-terminal (2);	0.080220	0.53938	D	0.000042	D	0.84311	0.5444	L	0.42529	1.33	0.80722	D	1	D	0.61080	0.989	P	0.60012	0.867	D	0.84424	0.0573	10	0.52906	T	0.07	.	17.7085	0.88315	0.0:1.0:0.0:0.0	.	353	Q9UJW2	TINAG_HUMAN	T	212;353;32	ENSP00000259782:P353T	ENSP00000259782:P353T	P	+	1	0	TINAG	54322630	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	2.938000	0.48987	2.785000	0.95823	0.591000	0.81541	CCT		0.408	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464		11	51	1	0	7.93e-07	9.38e-07	11	51				
PRIM2	5558	broad.mit.edu	37	6	57512611	57512611	+	3'UTR	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:57512611C>T	ENST00000389488.2	+	0	1526				PRIM2_ENST00000607273.1_3'UTR			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		GTCCAGAAAACCAAGGATGCA	0.403																																						uc003pdx.2		NA																	0					0						c.(1438-1440)ACC>ATC		DNA primase polypeptide 2							418.0	398.0	404.0					6																	57512611		1964	4157	6121	SO:0001624	3_prime_UTR_variant	5558				DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding	g.chr6:57512611C>T		CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000389488.2:c.*1523C>T	6.37:g.57512611C>T							p.T480I	NM_000947	NP_000938	P49643	PRI2_HUMAN		Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)	15	1526	+			480					Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Missense_Mutation	SNP	ENST00000389488.2	37	c.1439C>T																																																																																					0.403	PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	protein_coding	OTTHUMT00000043468.3	NM_000947		60	373	0	0	0	0	60	373				
DDX43	55510	broad.mit.edu	37	6	74116174	74116174	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:74116174C>A	ENST00000370336.4	+	7	1053	c.895C>A	c.(895-897)Cct>Act	p.P299T	DDX43_ENST00000539829.1_3'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	299	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TTATTTAATGCCTGGATTTAT	0.378																																						uc003pgw.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(895-897)CCT>ACT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 43							137.0	123.0	127.0					6																	74116174		2203	4300	6503	SO:0001583	missense	55510					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr6:74116174C>A		CCDS4977.1	6q13	2014-01-21			ENSG00000080007	ENSG00000080007		"""DEAD-boxes"""	18677	protein-coding gene	gene with protein product	"""cancer/testis antigen 13"""	606286				10919659	Standard	NM_018665		Approved	HAGE, DKFZp434H2114, CT13	uc003pgw.3	Q9NXZ2	OTTHUMG00000015033	ENST00000370336.4:c.895C>A	6.37:g.74116174C>A	ENSP00000359361:p.Pro299Thr					DDX43_uc011dyn.1_RNA	p.P299T	NM_018665	NP_061135	Q9NXZ2	DDX43_HUMAN			7	1239	+			299			Helicase ATP-binding.		B4E0C8|Q6NXR1	Missense_Mutation	SNP	ENST00000370336.4	37	c.895C>A	CCDS4977.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.177162	0.78564	.	.	ENSG00000080007	ENST00000370336	T	0.20332	2.08	5.08	5.08	0.68730	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.53514	0.1801	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68243	-0.5460	10	0.87932	D	0	-0.6289	17.5917	0.87998	0.0:1.0:0.0:0.0	.	299	Q9NXZ2	DDX43_HUMAN	T	299	ENSP00000359361:P299T	ENSP00000359361:P299T	P	+	1	0	DDX43	74172895	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	6.789000	0.75110	2.525000	0.85131	0.563000	0.77884	CCT		0.378	DDX43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041219.3	NM_018665		23	20	1	0	9.58e-11	1.23e-10	23	20				
FUT9	10690	broad.mit.edu	37	6	96651708	96651708	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:96651708T>A	ENST00000302103.5	+	3	1003	c.677T>A	c.(676-678)gTc>gAc	p.V226D		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	226					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		GGAGAATATGTCAATGATAAA	0.353																																					Melanoma(98;1369 1476 6592 22940 26587)	uc003pop.3		NA																	0				skin(4)|ovary(1)	5						c.(676-678)GTC>GAC		fucosyltransferase 9 (alpha (1,3)							48.0	47.0	47.0					6																	96651708		2203	4300	6503	SO:0001583	missense	10690				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr6:96651708T>A	AB023021	CCDS5033.1	6q16	2013-02-26			ENSG00000172461	ENSG00000172461		"""Fucosyltransferases"""	4020	protein-coding gene	gene with protein product		606865				10386598, 10575236	Standard	NM_006581		Approved	Fuc-TIX	uc003pop.4	Q9Y231	OTTHUMG00000015236	ENST00000302103.5:c.677T>A	6.37:g.96651708T>A	ENSP00000302599:p.Val226Asp						p.V226D	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.08)	3	1018	+		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)	226			Lumenal (Potential).		Q5T0W4	Missense_Mutation	SNP	ENST00000302103.5	37	c.677T>A	CCDS5033.1	.	.	.	.	.	.	.	.	.	.	T	19.16	3.773472	0.69992	.	.	ENSG00000172461	ENST00000302103	T	0.25414	1.8	5.75	5.75	0.90469	.	0.453272	0.22795	N	0.055560	T	0.38081	0.1027	M	0.66439	2.03	0.80722	D	1	P	0.42993	0.797	P	0.59171	0.853	T	0.10894	-1.0610	10	0.54805	T	0.06	-10.7514	15.2434	0.73488	0.0:0.0:0.0:1.0	.	226	Q9Y231	FUT9_HUMAN	D	226	ENSP00000302599:V226D	ENSP00000302599:V226D	V	+	2	0	FUT9	96758429	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.698000	0.84413	2.195000	0.70347	0.533000	0.62120	GTC		0.353	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041554.2	NM_006581		8	20	0	0	0	0	8	20				
LIN28B	389421	broad.mit.edu	37	6	105406156	105406156	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:105406156C>G	ENST00000345080.4	+	2	396	c.193C>G	c.(193-195)Cac>Gac	p.H65D		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	65	CSD.				miRNA catabolic process (GO:0010587)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA 3'-end processing (GO:0031123)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				TGTATTTGTACACCAAGTAAG	0.453																																						uc003pqv.1		NA																	0					0						c.(193-195)CAC>GAC		lin-28 homolog B							84.0	88.0	87.0					6																	105406156		2203	4300	6503	SO:0001583	missense	389421				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding	g.chr6:105406156C>G	AK131411	CCDS34504.1	6q21	2010-04-06			ENSG00000187772	ENSG00000187772			32207	protein-coding gene	gene with protein product		611044					Standard	NM_001004317		Approved	FLJ16517, CSDD2	uc003pqv.2	Q6ZN17	OTTHUMG00000015290	ENST00000345080.4:c.193C>G	6.37:g.105406156C>G	ENSP00000344401:p.His65Asp					LIN28B_uc010kda.1_Missense_Mutation_p.H25D	p.H65D	NM_001004317	NP_001004317	Q6ZN17	LN28B_HUMAN			2	396	+		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)	65			CSD.		A1L165|B2RPN6|Q5TCM4	Missense_Mutation	SNP	ENST00000345080.4	37	c.193C>G	CCDS34504.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.281740	0.80692	.	.	ENSG00000187772	ENST00000345080	.	.	.	5.78	5.78	0.91487	Cold shock protein (1);Nucleic acid-binding, OB-fold-like (1);Cold-shock protein, DNA-binding (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	D	0.84451	0.5475	M	0.90019	3.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.86705	0.1932	9	0.87932	D	0	-9.2385	20.0044	0.97430	0.0:1.0:0.0:0.0	.	42;65	A7E2T3;Q6ZN17	.;LN28B_HUMAN	D	65	.	ENSP00000344401:H65D	H	+	1	0	LIN28B	105512849	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.714000	0.92807	0.650000	0.86243	CAC		0.453	LIN28B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041646.2	NM_001004317		36	56	0	0	0	0	36	56				
C6orf203	51250	broad.mit.edu	37	6	107361208	107361208	+	Missense_Mutation	SNP	G	G	A	rs150832095		TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:107361208G>A	ENST00000405204.2	+	2	851	c.244G>A	c.(244-246)Gta>Ata	p.V82I	C6orf203_ENST00000489790.1_3'UTR|C6orf203_ENST00000311381.5_Missense_Mutation_p.V82I|C6orf203_ENST00000443043.1_Missense_Mutation_p.V87I	NM_001142468.1	NP_001135940.1	Q9P0P8	CF203_HUMAN	chromosome 6 open reading frame 203	82						mitochondrion (GO:0005739)				large_intestine(4)|lung(2)|prostate(1)|urinary_tract(1)	8	Breast(9;0.00124)|all_epithelial(6;0.0729)	all_cancers(87;0.00461)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|Colorectal(196;0.171)|all_epithelial(87;0.23)	BRCA - Breast invasive adenocarcinoma(8;0.000395)|all cancers(7;0.00065)|Epithelial(6;0.000834)|OV - Ovarian serous cystadenocarcinoma(5;0.244)	BRCA - Breast invasive adenocarcinoma(108;0.117)		TCCTTTTTCCGTAAGACTCAA	0.333													g|||	1	0.000199681	0.0	0.0014	5008	,	,		18433	0.0		0.0	False		,,,				2504	0.0					uc003prq.2		NA																	0					0						c.(244-246)GTA>ATA		hypothetical protein LOC51250 isoform a		G	ILE/VAL,ILE/VAL,ILE/VAL	0,4400		0,0,2200	53.0	60.0	58.0		244,259,244	-6.9	0.1	6	dbSNP_134	58	11,8589	7.1+/-27.0	0,11,4289	yes	missense,missense,missense	C6orf203	NM_001142468.1,NM_001142470.1,NM_016487.3	29,29,29	0,11,6489	AA,AG,GG		0.1279,0.0,0.0846	benign,benign,benign	82/241,87/246,82/241	107361208	11,12989	2200	4300	6500	SO:0001583	missense	51250							g.chr6:107361208G>A	AF151064	CCDS5058.1	6q21	2012-02-22			ENSG00000130349	ENSG00000130349			17971	protein-coding gene	gene with protein product						11042152, 11707072	Standard	XM_005267008		Approved	HSPC230, PRED31	uc003prq.3	Q9P0P8	OTTHUMG00000015307	ENST00000405204.2:c.244G>A	6.37:g.107361208G>A	ENSP00000384867:p.Val82Ile					C6orf203_uc011eaj.1_Missense_Mutation_p.V87I|C6orf203_uc010kde.2_Missense_Mutation_p.V82I	p.V82I	NM_016487	NP_057571	Q9P0P8	CF203_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.000395)|all cancers(7;0.00065)|Epithelial(6;0.000834)|OV - Ovarian serous cystadenocarcinoma(5;0.244)	BRCA - Breast invasive adenocarcinoma(108;0.117)	2	325	+	Breast(9;0.00124)|all_epithelial(6;0.0729)	all_cancers(87;0.00461)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|Colorectal(196;0.171)|all_epithelial(87;0.23)	82					B3KRG9	Missense_Mutation	SNP	ENST00000405204.2	37	c.244G>A	CCDS5058.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	g	0.044	-1.274434	0.01421	0.0	0.001279	ENSG00000130349	ENST00000443043;ENST00000405204;ENST00000311381	T;T;T	0.34072	1.38;1.38;1.38	6.08	-6.87	0.01671	.	0.873956	0.10315	N	0.689452	T	0.01353	0.0044	N	0.00707	-1.245	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29852	-0.9998	10	0.02654	T	1	-4.7605	1.448	0.02368	0.1699:0.2807:0.3016:0.2478	.	82	Q9P0P8	CF203_HUMAN	I	87;82;82	ENSP00000390153:V87I;ENSP00000384867:V82I;ENSP00000310951:V82I	ENSP00000310951:V82I	V	+	1	0	C6orf203	107467901	0.003000	0.15002	0.097000	0.21041	0.492000	0.33523	-0.803000	0.04540	-1.059000	0.03193	-1.343000	0.01246	GTA		0.333	C6orf203-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041684.1	NM_016487		25	55	0	0	0	0	25	55				
GPR6	2830	broad.mit.edu	37	6	110301114	110301114	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:110301114G>T	ENST00000275169.3	+	1	817	c.799G>T	c.(799-801)Gcg>Tcg	p.A267S	GPR6_ENST00000414000.2_Missense_Mutation_p.A282S	NM_005284.3	NP_005275.1	P46095	GPR6_HUMAN	G protein-coupled receptor 6	267					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		GCACTGCCTGGCGCCACCCCA	0.637																																						uc011eaw.1		NA																	0					0						c.(799-801)GCG>TCG		G protein-coupled receptor 6							34.0	32.0	33.0					6																	110301114		2201	4299	6500	SO:0001583	missense	2830					integral to plasma membrane		g.chr6:110301114G>T		CCDS5079.1, CCDS69172.1	6q21	2012-08-21				ENSG00000146360		"""GPCR / Class A : Orphans"""	4515	protein-coding gene	gene with protein product		600553				8530049	Standard	NM_001286099		Approved		uc003ptu.3	P46095	OTTHUMG00000015354	ENST00000275169.3:c.799G>T	6.37:g.110301114G>T	ENSP00000275169:p.Ala267Ser					GPR6_uc011eav.1_Missense_Mutation_p.A282S|GPR6_uc003ptu.2_Missense_Mutation_p.A267S	p.A267S	NM_005284	NP_005275	P46095	GPR6_HUMAN		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)	2	979	+		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)	267			Cytoplasmic (Potential).		B4DHS9|J3KQR3|Q17RJ7|Q5SYL0	Missense_Mutation	SNP	ENST00000275169.3	37	c.799G>T	CCDS5079.1	.	.	.	.	.	.	.	.	.	.	G	10.64	1.406899	0.25378	.	.	ENSG00000146360	ENST00000428489;ENST00000414000;ENST00000275169	T;T	0.34472	1.36;1.36	4.75	4.75	0.60458	GPCR, rhodopsin-like superfamily (1);	0.219310	0.39475	N	0.001346	T	0.16599	0.0399	L	0.32530	0.975	0.43338	D	0.995384	P;B	0.41498	0.752;0.418	P;B	0.47573	0.55;0.223	T	0.05370	-1.0889	10	0.15499	T	0.54	.	5.6742	0.17739	0.2386:0.0:0.7614:0.0	.	282;267	B4DHS9;P46095	.;GPR6_HUMAN	S	267;282;267	ENSP00000406986:A282S;ENSP00000275169:A267S	ENSP00000275169:A267S	A	+	1	0	GPR6	110407807	1.000000	0.71417	0.983000	0.44433	0.304000	0.27724	2.963000	0.49184	2.449000	0.82847	0.563000	0.77884	GCG		0.637	GPR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041774.1			7	37	1	0	5.49e-09	6.85e-09	7	37				
ROS1	6098	broad.mit.edu	37	6	117665282	117665282	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:117665282C>A	ENST00000368508.3	-	27	4663	c.4465G>T	c.(4465-4467)Gtt>Ttt	p.V1489F	ROS1_ENST00000368507.3_Missense_Mutation_p.V1483F|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1489	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GCATAATAAACCAGGTATGTT	0.398			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	uc003pxp.1		NA		Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	GOPC|ROS1		glioblastoma|NSCLC		0				lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25						c.(4465-4467)GTT>TTT		proto-oncogene c-ros-1 protein precursor							213.0	203.0	206.0					6																	117665282		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117665282C>A	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.4465G>T	6.37:g.117665282C>A	ENSP00000357494:p.Val1489Phe					ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	p.V1489F	NM_002944	NP_002935	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	27	4664	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	1489			Extracellular (Potential).|Fibronectin type-III 6.		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.4465G>T	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058896	0.36277	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.62498	0.02;0.02	5.16	3.33	0.38152	.	0.107097	0.41001	D	0.000965	T	0.39937	0.1097	L	0.29908	0.895	0.80722	D	1	P	0.50443	0.935	P	0.48114	0.567	T	0.43228	-0.9404	10	0.87932	D	0	.	7.8826	0.29631	0.0:0.7498:0.161:0.0892	.	1489	P08922	ROS1_HUMAN	F	1489;1483	ENSP00000357494:V1489F;ENSP00000357493:V1483F	ENSP00000357493:V1483F	V	-	1	0	ROS1	117771975	1.000000	0.71417	0.957000	0.39632	0.054000	0.15201	1.797000	0.38804	0.645000	0.30675	0.561000	0.74099	GTT		0.398	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			17	32	1	0	5.35e-07	6.37e-07	17	32				
LAMA2	3908	broad.mit.edu	37	6	129704301	129704301	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:129704301G>T	ENST00000421865.2	+	35	5043	c.4994G>T	c.(4993-4995)gGa>gTa	p.G1665V		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1665	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GAGCAGACCGGACAGGATGCT	0.448																																						uc003qbn.2		NA																	0				ovary(8)|breast(1)|skin(1)	10						c.(4993-4995)GGA>GTA		laminin alpha 2 subunit isoform a precursor							82.0	85.0	84.0					6																	129704301		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129704301G>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.4994G>T	6.37:g.129704301G>T	ENSP00000400365:p.Gly1665Val					LAMA2_uc003qbo.2_Missense_Mutation_p.G1665V	p.G1665V	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	35	5099	+			1665			Domain II and I.|Potential.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.4994G>T	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559100	0.65538	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.09817	2.94	5.63	5.63	0.86233	Laminin I (1);	0.191790	0.46442	D	0.000289	T	0.09468	0.0233	L	0.27053	0.805	0.58432	D	0.999999	D;P	0.55800	0.973;0.822	P;P	0.52159	0.691;0.516	T	0.23762	-1.0179	10	0.30078	T	0.28	.	20.0396	0.97574	0.0:0.0:1.0:0.0	.	1665;1665	A6NF00;P24043	.;LAMA2_HUMAN	V	1665	ENSP00000400365:G1665V	ENSP00000346769:G1665V	G	+	2	0	LAMA2	129745994	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.380000	0.44327	2.814000	0.96858	0.563000	0.77884	GGA		0.448	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			10	17	1	0	0.000978159	0.00105749	10	17				
MOXD1	26002	broad.mit.edu	37	6	132722446	132722446	+	Silent	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:132722446G>T	ENST00000367963.3	-	1	238	c.120C>A	c.(118-120)ggC>ggA	p.G40G	MOXD1_ENST00000392401.3_Silent_p.G40G	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	40	DOMON. {ECO:0000255|PROSITE- ProRule:PRU00246}.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)	p.W41fs*59(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		GCTGGCTCCAGCCCAGCCAGT	0.736																																						uc003qdf.2		NA																	1	Insertion - Frameshift(1)		large_intestine(1)	ovary(1)	1						c.(118-120)GGC>GGA		monooxygenase, DBH-like 1 isoform 2							11.0	10.0	10.0					6																	132722446		2002	4017	6019	SO:0001819	synonymous_variant	26002				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	g.chr6:132722446G>T	AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.120C>A	6.37:g.132722446G>T							p.G40G	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)	1	219	-	Breast(56;0.0495)		40			Lumenal (Potential).|DOMON.		Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Silent	SNP	ENST00000367963.3	37	c.120C>A	CCDS5152.2																																																																																				0.736	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000125837.1	NM_015529		6	7	1	0	1.07e-07	1.29e-07	6	7				
TAAR2	9287	broad.mit.edu	37	6	132938351	132938351	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:132938351C>T	ENST00000367931.1	-	2	993	c.994G>A	c.(994-996)Ggt>Agt	p.G332S	TAAR2_ENST00000275191.2_Missense_Mutation_p.G287S|TAAR2_ENST00000537809.1_Missense_Mutation_p.G287S			Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	332					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		AAAATTTTACCTAGCAAAATG	0.343																																						uc003qdl.1		NA																	0				ovary(1)	1						c.(994-996)GGT>AGT		trace amine associated receptor 2 isoform 1							42.0	43.0	42.0					6																	132938351		2203	4300	6503	SO:0001583	missense	9287					plasma membrane	G-protein coupled receptor activity	g.chr6:132938351C>T	AF112460	CCDS34541.1, CCDS5157.1	6q24	2012-08-08	2005-02-23	2005-02-24	ENSG00000146378	ENSG00000146378		"""GPCR / Class A : Trace amine associated receptors"""	4514	protein-coding gene	gene with protein product		604849	"""G protein-coupled receptor 58"""	GPR58		10684976, 15718104	Standard	NM_014626		Approved		uc003qdl.1	Q9P1P5	OTTHUMG00000015585	ENST00000367931.1:c.994G>A	6.37:g.132938351C>T	ENSP00000356908:p.Gly332Ser					TAAR2_uc010kfr.1_Missense_Mutation_p.G287S	p.G332S	NM_001033080	NP_001028252	Q9P1P5	TAAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)	2	994	-	Breast(56;0.135)		332			Cytoplasmic (Potential).		Q5QD02|Q6NWS1|Q6NWS2|Q6NWS3	Missense_Mutation	SNP	ENST00000367931.1	37	c.994G>A	CCDS34541.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.731990	0.48939	.	.	ENSG00000146378	ENST00000275191;ENST00000367931;ENST00000537809	T;T;T	0.37058	1.22;1.22;1.22	5.96	5.96	0.96718	.	0.062214	0.64402	D	0.000004	T	0.59335	0.2186	M	0.82630	2.6	0.32757	N	0.50561	D	0.89917	1.0	D	0.97110	1.0	T	0.61302	-0.7090	10	0.49607	T	0.09	-21.7006	20.4019	0.98996	0.0:1.0:0.0:0.0	.	332	Q9P1P5	TAAR2_HUMAN	S	287;332;287	ENSP00000275191:G287S;ENSP00000356908:G332S;ENSP00000441263:G287S	ENSP00000275191:G287S	G	-	1	0	TAAR2	132980044	0.079000	0.21365	0.971000	0.41717	0.304000	0.27724	2.622000	0.46427	2.815000	0.96918	0.650000	0.86243	GGT		0.343	TAAR2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390735.1	NM_014626		23	20	0	0	0	0	23	20				
VNN2	8875	broad.mit.edu	37	6	133073775	133073775	+	Silent	SNP	A	A	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:133073775A>G	ENST00000326499.6	-	4	775	c.651T>C	c.(649-651)taT>taC	p.Y217Y	VNN2_ENST00000525289.1_Intron|VNN2_ENST00000525270.1_Silent_p.Y164Y|RP1-55C23.7_ENST00000430895.1_RNA|VNN2_ENST00000526192.1_5'Flank	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2	217	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				cellular component movement (GO:0006928)|pantothenate metabolic process (GO:0015939)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		CACCAGGATCATAGAAGAATA	0.443																																						uc003qdt.2		NA																	0					0						c.(649-651)TAT>TAC		vanin 2 isoform 1 precursor							150.0	137.0	142.0					6																	133073775		2203	4300	6503	SO:0001819	synonymous_variant	8875				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity	g.chr6:133073775A>G	AB026705	CCDS5161.1, CCDS5162.1, CCDS56451.1	6q23-q24	2013-02-13			ENSG00000112303	ENSG00000112303	3.5.1.92	"""Vanins"""	12706	protein-coding gene	gene with protein product	"""pantetheinase"""	603571				9790769, 11491533	Standard	NM_078488		Approved	FOAP-4, GPI-80	uc003qdt.3	O95498	OTTHUMG00000015588	ENST00000326499.6:c.651T>C	6.37:g.133073775A>G						VNN2_uc003qds.2_Intron|VNN2_uc010kgb.2_Intron|VNN2_uc003qdv.2_Silent_p.Y164Y	p.Y217Y	NM_004665	NP_004656	O95498	VNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)	4	662	-			217			CN hydrolase.		A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2	Silent	SNP	ENST00000326499.6	37	c.651T>C	CCDS5161.1																																																																																				0.443	VNN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042264.2			42	95	0	0	0	0	42	95				
ALDH8A1	64577	broad.mit.edu	37	6	135239568	135239568	+	Silent	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:135239568G>T	ENST00000265605.2	-	7	1517	c.1449C>A	c.(1447-1449)atC>atA	p.I483I	ALDH8A1_ENST00000367845.2_Silent_p.I429I|ALDH8A1_ENST00000367847.2_Silent_p.I433I	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	483					9-cis-retinoic acid biosynthetic process (GO:0042904)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	retinal dehydrogenase activity (GO:0001758)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		GTTTAACGGTGATGGTTTTGA	0.478																																						uc003qew.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1447-1449)ATC>ATA		aldehyde dehydrogenase 8A1 isoform 1							117.0	118.0	118.0					6																	135239568		2203	4300	6503	SO:0001819	synonymous_variant	64577				retinal metabolic process	cytoplasm	retinal dehydrogenase activity	g.chr6:135239568G>T	AL021939	CCDS5171.1, CCDS5172.1, CCDS55057.1	6q24.1-q25.1	2008-07-03			ENSG00000118514	ENSG00000118514		"""Aldehyde dehydrogenases"""	15471	protein-coding gene	gene with protein product		606467				11007799	Standard	NM_001193480		Approved	ALDH12	uc003qew.3	Q9H2A2	OTTHUMG00000015623	ENST00000265605.2:c.1449C>A	6.37:g.135239568G>T						ALDH8A1_uc003qex.2_Silent_p.I429I|ALDH8A1_uc010kgh.2_Silent_p.I261I|ALDH8A1_uc011ecx.1_Silent_p.I433I	p.I483I	NM_022568	NP_072090	Q9H2A2	AL8A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)	7	1502	-	Colorectal(23;0.221)		483					B7Z521|O60793|Q24JS9|Q53GT3|Q5TI80	Silent	SNP	ENST00000265605.2	37	c.1449C>A	CCDS5171.1																																																																																				0.478	ALDH8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042334.2			13	30	1	0	1.5e-05	1.71e-05	13	30				
OLIG3	167826	broad.mit.edu	37	6	137814953	137814953	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:137814953G>C	ENST00000367734.2	-	1	578	c.355C>G	c.(355-357)Cgc>Ggc	p.R119G		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	119	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron migration (GO:0097476)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		GAGAGCTTGCGCACCGACGGC	0.602																																						uc003qhp.1		NA																	0					0						c.(355-357)CGC>GGC		oligodendrocyte transcription factor 3							112.0	89.0	97.0					6																	137814953		2203	4300	6503	SO:0001583	missense	167826				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:137814953G>C	AK096362	CCDS5186.1	6q23.3	2013-05-21			ENSG00000177468	ENSG00000177468		"""Basic helix-loop-helix proteins"""	18003	protein-coding gene	gene with protein product		609323					Standard	NM_175747		Approved	Bhlhb7, bHLHe20	uc003qhp.1	Q7RTU3	OTTHUMG00000015657	ENST00000367734.2:c.355C>G	6.37:g.137814953G>C	ENSP00000356708:p.Arg119Gly						p.R119G	NM_175747	NP_786923	Q7RTU3	OLIG3_HUMAN		GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)	1	579	-	Breast(32;0.165)|Colorectal(23;0.24)		119			Helix-loop-helix motif.		Q8N8Q0	Missense_Mutation	SNP	ENST00000367734.2	37	c.355C>G	CCDS5186.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768297	0.49680	.	.	ENSG00000177468	ENST00000367734	T	0.70631	-0.5	5.54	2.59	0.31030	Helix-loop-helix DNA-binding (5);	0.000000	0.64402	D	0.000001	T	0.79435	0.4445	M	0.78637	2.42	0.53688	D	0.999972	D	0.89917	1.0	D	0.91635	0.999	D	0.83484	0.0066	10	0.87932	D	0	-0.0148	15.3423	0.74306	0.0:0.0:0.4038:0.5962	.	119	Q7RTU3	OLIG3_HUMAN	G	119	ENSP00000356708:R119G	ENSP00000356708:R119G	R	-	1	0	OLIG3	137856646	0.994000	0.37717	0.997000	0.53966	0.993000	0.82548	0.363000	0.20301	0.644000	0.30656	0.591000	0.81541	CGC		0.602	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042405.1	NM_175747		17	50	0	0	0	0	17	50				
ULBP1	80329	broad.mit.edu	37	6	150290448	150290448	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:150290448T>C	ENST00000229708.3	+	3	620	c.577T>C	c.(577-579)Tgg>Cgg	p.W193R		NM_025218.2	NP_079494.1	Q9BZM6	N2DL1_HUMAN	UL16 binding protein 1	193	MHC class I alpha-2 like.				antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)			large_intestine(3)|lung(5)|pancreas(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)		TTGTAAGATGTGGCTTGAAGA	0.448																																						uc003qnp.2		NA																	0				pancreas(1)	1						c.(577-579)TGG>CGG		UL16 binding protein 1 precursor							99.0	101.0	101.0					6																	150290448		2203	4300	6503	SO:0001583	missense	80329				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|endoplasmic reticulum|MHC class I protein complex	MHC class I receptor activity	g.chr6:150290448T>C	AF304377	CCDS5223.1	6q25	2003-04-29			ENSG00000111981	ENSG00000111981			14893	protein-coding gene	gene with protein product		605697				11239445, 11827464	Standard	XM_005267151		Approved	RAET1I	uc003qnp.3	Q9BZM6	OTTHUMG00000015810	ENST00000229708.3:c.577T>C	6.37:g.150290448T>C	ENSP00000229708:p.Trp193Arg						p.W193R	NM_025218	NP_079494	Q9BZM6	N2DL1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)	3	620	+		Ovarian(120;0.0907)	193			MHC class I alpha-2 like.		Q5VY81|Q8IZW3|Q8IZX6	Missense_Mutation	SNP	ENST00000229708.3	37	c.577T>C	CCDS5223.1	.	.	.	.	.	.	.	.	.	.	t	11.35	1.612861	0.28712	.	.	ENSG00000111981	ENST00000367345;ENST00000229708	T;T	0.08634	3.07;3.07	2.13	0.807	0.18714	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.11922	0.0290	M	0.78285	2.405	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.07597	-1.0764	9	0.87932	D	0	.	4.0323	0.09714	0.3177:0.0:0.0:0.6823	.	193	Q9BZM6	N2DL1_HUMAN	R	193	ENSP00000356314:W193R;ENSP00000229708:W193R	ENSP00000229708:W193R	W	+	1	0	ULBP1	150332141	0.372000	0.25064	0.001000	0.08648	0.043000	0.13939	1.304000	0.33482	0.204000	0.20548	0.164000	0.16699	TGG		0.448	ULBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042677.2			52	65	0	0	0	0	52	65				
SYNE1	23345	broad.mit.edu	37	6	152652521	152652521	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:152652521G>T	ENST00000367255.5	-	78	13900	c.13299C>A	c.(13297-13299)caC>caA	p.H4433Q	SYNE1_ENST00000423061.1_Missense_Mutation_p.H4362Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.H4433Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.H4298Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.H4362Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4433					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GACAATTCACGTGGCTTTGTG	0.493										HNSCC(10;0.0054)																												uc010kiw.2		NA																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(13297-13299)CAC>CAA		spectrin repeat containing, nuclear envelope 1							99.0	91.0	94.0					6																	152652521		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152652521G>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.13299C>A	6.37:g.152652521G>T	ENSP00000356224:p.His4433Gln	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.H4362Q|SYNE1_uc003qou.3_Missense_Mutation_p.H4433Q|SYNE1_uc010kiz.2_Missense_Mutation_p.H188Q	p.H4433Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	78	13901	-		Ovarian(120;0.0955)	4433			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.13299C>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	4.582	0.108208	0.08780	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5	5.84	-6.32	0.01995	.	0.000000	0.64402	D	0.000006	T	0.25494	0.0620	L	0.57536	1.79	0.44927	D	0.997949	D;D;D;D	0.58970	0.984;0.972;0.972;0.984	P;P;P;P	0.56127	0.792;0.545;0.545;0.715	T	0.49934	-0.8886	10	0.30854	T	0.27	.	16.9985	0.86375	0.7585:0.0:0.2415:0.0	.	4433;4433;4433;4362	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	Q	4433;4362;4433;4362;4298	ENSP00000356224:H4433Q;ENSP00000396024:H4362Q;ENSP00000265368:H4433Q;ENSP00000390975:H4362Q;ENSP00000341887:H4298Q	ENSP00000265368:H4433Q	H	-	3	2	SYNE1	152694214	0.000000	0.05858	0.026000	0.17262	0.153000	0.21895	-2.556000	0.00924	-1.251000	0.02494	-0.794000	0.03295	CAC		0.493	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		35	29	1	0	9.81e-26	1.47e-25	35	29				
RGS17	26575	broad.mit.edu	37	6	153347653	153347653	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:153347653C>A	ENST00000367225.2	-	2	169	c.145G>T	c.(145-147)Ggg>Tgg	p.G49W	RGS17_ENST00000206262.1_Missense_Mutation_p.G49W			Q9UGC6	RGS17_HUMAN	regulator of G-protein signaling 17	49					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(2)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		GCATTTTCCCCTCTTTCTTCA	0.398																																					Esophageal Squamous(78;500 1236 6775 24364 49058)	uc003qpm.2		NA																	0				pancreas(1)	1						c.(145-147)GGG>TGG		regulator of G-protein signalling 17							295.0	223.0	247.0					6																	153347653		2203	4300	6503	SO:0001583	missense	26575	Lung_Cancer_Familial_Clustering_of			negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr6:153347653C>A	AF202257	CCDS5244.1	6q25-q26	2009-05-29	2007-08-14		ENSG00000091844	ENSG00000091844		"""Regulators of G-protein signaling"""	14088	protein-coding gene	gene with protein product		607191	"""regulator of G-protein signalling 17"""			10419452	Standard	NM_012419		Approved	RGSZ2, RGS-17	uc003qpm.3	Q9UGC6	OTTHUMG00000015858	ENST00000367225.2:c.145G>T	6.37:g.153347653C>A	ENSP00000356194:p.Gly49Trp						p.G49W	NM_012419	NP_036551	Q9UGC6	RGS17_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)	3	301	-		Ovarian(120;0.126)	49					Q5TF49|Q8TD61|Q9UJS8	Missense_Mutation	SNP	ENST00000367225.2	37	c.145G>T	CCDS5244.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.065721	0.76187	.	.	ENSG00000091844	ENST00000367225;ENST00000206262	T;T	0.44482	0.92;0.92	5.16	5.16	0.70880	.	1.004740	0.08041	U	0.995158	T	0.43055	0.1230	L	0.44542	1.39	0.50467	D	0.999878	D	0.59357	0.985	P	0.51193	0.662	T	0.48864	-0.8997	10	0.87932	D	0	-15.9222	19.0129	0.92881	0.0:1.0:0.0:0.0	.	49	Q9UGC6	RGS17_HUMAN	W	49	ENSP00000356194:G49W;ENSP00000206262:G49W	ENSP00000206262:G49W	G	-	1	0	RGS17	153389346	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	3.850000	0.55918	2.577000	0.86979	0.650000	0.86243	GGG		0.398	RGS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042773.2			23	89	1	0	1.75e-13	2.34e-13	23	89				
SYNJ2	8871	broad.mit.edu	37	6	158454617	158454617	+	Missense_Mutation	SNP	G	G	T	rs535069011		TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:158454617G>T	ENST00000355585.4	+	4	691	c.616G>T	c.(616-618)Gtc>Ttc	p.V206F	SYNJ2_ENST00000449859.2_Missense_Mutation_p.V155F|SYNJ2_ENST00000367121.3_Missense_Mutation_p.V206F|SYNJ2_ENST00000367122.2_Missense_Mutation_p.V206F	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	206	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GGCCTGCCTCGTCTCTCGCGT	0.622																																						uc003qqx.1		NA																	0				skin(1)	1						c.(616-618)GTC>TTC		synaptojanin 2							97.0	74.0	82.0					6																	158454617		2203	4300	6503	SO:0001583	missense	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158454617G>T	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.616G>T	6.37:g.158454617G>T	ENSP00000347792:p.Val206Phe					SYNJ2_uc011efm.1_RNA|SYNJ2_uc003qqw.1_Missense_Mutation_p.V206F|SYNJ2_uc003qqy.1_5'UTR|SYNJ2_uc011efn.1_Missense_Mutation_p.V155F|SYNJ2_uc010kjo.1_Missense_Mutation_p.V155F	p.V206F	NM_003898	NP_003889	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	4	691	+			206			SAC.		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	37	c.616G>T	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	A	12.80	2.046315	0.36085	.	.	ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585;ENST00000449859	T;T;T;T	0.60040	0.22;0.22;0.22;0.22	5.09	3.93	0.45458	Synaptojanin, N-terminal (2);	0.000000	0.64402	D	0.000011	T	0.33644	0.0870	N	0.20574	0.59	0.27071	N	0.963313	P;B;P;B	0.42161	0.612;0.006;0.772;0.019	B;B;P;B	0.47864	0.299;0.047;0.559;0.052	T	0.14755	-1.0461	10	0.59425	D	0.04	.	9.691	0.40127	0.8582:0.0:0.1418:0.0	.	155;206;206;206	B4DJU8;E7ER60;O15056;O15056-3	.;.;SYNJ2_HUMAN;.	F	206;206;206;155	ENSP00000356089:V206F;ENSP00000356088:V206F;ENSP00000347792:V206F;ENSP00000388371:V155F	ENSP00000347792:V206F	V	+	1	0	SYNJ2	158374605	1.000000	0.71417	1.000000	0.80357	0.634000	0.38068	2.900000	0.48687	2.148000	0.66965	0.482000	0.46254	GTC		0.622	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			23	32	1	0	4.72e-08	5.76e-08	23	32				
PDE10A	10846	broad.mit.edu	37	6	165752772	165752772	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:165752772C>A	ENST00000366882.1	-	21	2297	c.2143G>T	c.(2143-2145)Ggc>Tgc	p.G715C	PDE10A_ENST00000539869.2_Missense_Mutation_p.G725C|PDE10A_ENST00000354448.4_Missense_Mutation_p.G715C			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	715					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	CATACCTGGCCTTGGGGGACT	0.353																																					Esophageal Squamous(22;308 615 5753 12038 40624)	uc003qun.2		NA																	0				ovary(3)|skin(2)	5						c.(2143-2145)GGC>TGC		phosphodiesterase 10A isoform 2	Dipyridamole(DB00975)						147.0	149.0	148.0					6																	165752772		2203	4300	6503	SO:0001583	missense	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165752772C>A	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.2143G>T	6.37:g.165752772C>A	ENSP00000355847:p.Gly715Cys					PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.G645C|PDE10A_uc003quo.2_Missense_Mutation_p.G725C	p.G715C	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	21	2384	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	715					Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37	c.2143G>T		.	.	.	.	.	.	.	.	.	.	C	28.2	4.897355	0.91962	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.78003	-1.14;-1.14	5.66	5.66	0.87406	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.85252	0.5654	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.971	D	0.84374	0.0545	10	0.51188	T	0.08	.	19.7416	0.96232	0.0:1.0:0.0:0.0	.	725;715	Q9ULW9;Q9Y233	.;PDE10_HUMAN	C	715;743;725;715;714	ENSP00000355847:G715C;ENSP00000346435:G715C	ENSP00000341187:G725C	G	-	1	0	PDE10A	165672762	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	7.155000	0.77445	2.688000	0.91661	0.655000	0.94253	GGC		0.353	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			23	92	1	0	5.35e-11	6.91e-11	23	92				
T	6862	broad.mit.edu	37	6	166581041	166581041	+	Silent	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:166581041C>G	ENST00000296946.2	-	2	507	c.39G>C	c.(37-39)ctG>ctC	p.L13L	T_ENST00000366871.3_Silent_p.L13L	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	13					anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|canonical Wnt signaling pathway (GO:0060070)|determination of heart left/right asymmetry (GO:0061371)|embryonic skeletal system development (GO:0048706)|heart morphogenesis (GO:0003007)|mesoderm development (GO:0007498)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord formation (GO:0014028)|penetration of zona pellucida (GO:0007341)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|signal transduction (GO:0007165)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		CTCGGTACTGCAGGCTCTTTC	0.697									Chordoma, Familial Clustering of																													uc003quu.1		NA																	0				ovary(1)|pancreas(1)	2						c.(37-39)CTG>CTC		transcription factor T							29.0	29.0	29.0					6																	166581041		2202	4297	6499	SO:0001819	synonymous_variant	6862	Chordoma_Familial_Clustering_of	Familial Cancer Database		anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity	g.chr6:166581041C>G	AJ001699	CCDS5290.1, CCDS59045.1	6q27	2011-06-13	2001-11-28		ENSG00000164458	ENSG00000164458		"""T-boxes"""	11515	protein-coding gene	gene with protein product		601397	"""T brachyury (mouse) homolog"""			8963900	Standard	NM_003181		Approved		uc003quu.2	O15178	OTTHUMG00000015991	ENST00000296946.2:c.39G>C	6.37:g.166581041C>G						T_uc003qut.1_Silent_p.L13L|T_uc003quv.1_Silent_p.L13L	p.L13L	NM_003181	NP_003172	O15178	BRAC_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)	2	532	-		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)	13					E7ERD6|Q4KMP4	Silent	SNP	ENST00000296946.2	37	c.39G>C	CCDS5290.1																																																																																				0.697	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043037.2	NM_003181		5	8	0	0	0	0	5	8				
FRMD1	79981	broad.mit.edu	37	6	168457935	168457935	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:168457935G>T	ENST00000283309.6	-	11	1556	c.1492C>A	c.(1492-1494)Cca>Aca	p.P498T	FRMD1_ENST00000537786.1_Missense_Mutation_p.P269T|FRMD1_ENST00000432403.1_5'UTR|FRMD1_ENST00000440994.2_Missense_Mutation_p.P430T	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	498						cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GTGGGCGCTGGGTGCAGGGCC	0.672																																					GBM(50;8 1094 9538 34399)|Ovarian(80;676 1857 8675 49015)	uc003qwo.3		NA																	0				ovary(1)	1						c.(1492-1494)CCA>ACA		FERM domain containing 1 isoform 1							34.0	30.0	31.0					6																	168457935		2203	4298	6501	SO:0001583	missense	79981					cytoskeleton	binding	g.chr6:168457935G>T		CCDS5306.1, CCDS47518.1	6q27	2008-10-23			ENSG00000153303	ENSG00000153303			21240	protein-coding gene	gene with protein product							Standard	NM_001122841		Approved	FLJ00181, DKFZp434O0117, FLJ40260, FLJ22615, bA164L23.1	uc003qwo.4	Q8N878	OTTHUMG00000016037	ENST00000283309.6:c.1492C>A	6.37:g.168457935G>T	ENSP00000283309:p.Pro498Thr					FRMD1_uc003qwm.3_Missense_Mutation_p.P292T|FRMD1_uc011egs.1_Missense_Mutation_p.P269T|FRMD1_uc011egt.1_Missense_Mutation_p.P433T|FRMD1_uc003qwn.3_Missense_Mutation_p.P430T	p.P498T	NM_024919	NP_079195	Q8N878	FRMD1_HUMAN		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)	11	1557	-		Breast(66;1.07e-05)|Ovarian(120;0.0728)	498					B2RNV8|B3KUM6|Q5SZU7|Q9UFB0	Missense_Mutation	SNP	ENST00000283309.6	37	c.1492C>A	CCDS5306.1	.	.	.	.	.	.	.	.	.	.	G	4.210	0.037673	0.08148	.	.	ENSG00000153303	ENST00000283309;ENST00000440994;ENST00000537786	T;T;T	0.57107	0.42;0.42;0.42	2.45	1.52	0.23074	.	0.196967	0.21849	U	0.068202	T	0.19446	0.0467	L	0.47716	1.5	0.21064	N	0.999799	P;P;P;P	0.41597	0.756;0.756;0.57;0.756	B;B;B;B	0.37650	0.218;0.218;0.255;0.218	T	0.04693	-1.0933	10	0.26408	T	0.33	.	5.1501	0.15005	0.4143:0.0:0.5857:0.0	.	433;498;430;393	B7Z8G9;Q8N878;Q8N878-2;Q5SZU5	.;FRMD1_HUMAN;.;.	T	498;430;269	ENSP00000283309:P498T;ENSP00000414115:P430T;ENSP00000440078:P269T	ENSP00000283309:P498T	P	-	1	0	FRMD1	168200784	0.000000	0.05858	0.004000	0.12327	0.005000	0.04900	-0.026000	0.12392	0.877000	0.35895	0.467000	0.42956	CCA		0.672	FRMD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362513.2	NM_024919		8	3	1	0	5.18e-06	6e-06	8	3				
FRMD1	79981	broad.mit.edu	37	6	168464370	168464370	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:168464370C>A	ENST00000283309.6	-	6	779	c.715G>T	c.(715-717)Ggc>Tgc	p.G239C	FRMD1_ENST00000537786.1_Missense_Mutation_p.G10C|FRMD1_ENST00000432403.1_5'UTR|FRMD1_ENST00000440994.2_Missense_Mutation_p.G171C	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	239	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GGGCTCAGGCCCTGGCGCTCA	0.642																																					GBM(50;8 1094 9538 34399)|Ovarian(80;676 1857 8675 49015)	uc003qwo.3		NA																	0				ovary(1)	1						c.(715-717)GGC>TGC		FERM domain containing 1 isoform 1							91.0	76.0	81.0					6																	168464370		2203	4300	6503	SO:0001583	missense	79981					cytoskeleton	binding	g.chr6:168464370C>A		CCDS5306.1, CCDS47518.1	6q27	2008-10-23			ENSG00000153303	ENSG00000153303			21240	protein-coding gene	gene with protein product							Standard	NM_001122841		Approved	FLJ00181, DKFZp434O0117, FLJ40260, FLJ22615, bA164L23.1	uc003qwo.4	Q8N878	OTTHUMG00000016037	ENST00000283309.6:c.715G>T	6.37:g.168464370C>A	ENSP00000283309:p.Gly239Cys					FRMD1_uc003qwm.3_Missense_Mutation_p.G10C|FRMD1_uc011egs.1_Missense_Mutation_p.G10C|FRMD1_uc011egt.1_Missense_Mutation_p.G151C|FRMD1_uc003qwn.3_Missense_Mutation_p.G171C	p.G239C	NM_024919	NP_079195	Q8N878	FRMD1_HUMAN		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)	6	780	-		Breast(66;1.07e-05)|Ovarian(120;0.0728)	239			FERM.		B2RNV8|B3KUM6|Q5SZU7|Q9UFB0	Missense_Mutation	SNP	ENST00000283309.6	37	c.715G>T	CCDS5306.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.634813	0.47049	.	.	ENSG00000153303	ENST00000283309;ENST00000440994;ENST00000537786	T;T;T	0.59083	0.96;0.96;0.29	2.83	2.83	0.33086	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.64402	U	0.000018	T	0.68513	0.3009	M	0.77820	2.39	0.52501	D	0.999952	P;D;D;D	0.89917	0.787;1.0;0.999;1.0	P;D;D;D	0.80764	0.794;0.994;0.985;0.987	T	0.75241	-0.3387	10	0.87932	D	0	.	13.741	0.62847	0.0:1.0:0.0:0.0	.	151;239;171;111	B7Z8G9;Q8N878;Q8N878-2;Q5SZU5	.;FRMD1_HUMAN;.;.	C	239;171;10	ENSP00000283309:G239C;ENSP00000414115:G171C;ENSP00000440078:G10C	ENSP00000283309:G239C	G	-	1	0	FRMD1	168207219	0.481000	0.25941	0.352000	0.25734	0.241000	0.25554	6.093000	0.71422	1.425000	0.47237	0.305000	0.20034	GGC		0.642	FRMD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362513.2	NM_024919		15	31	1	0	1.03e-11	1.35e-11	15	31				
DNAH11	8701	broad.mit.edu	37	7	21747362	21747362	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:21747362C>T	ENST00000409508.3	+	40	6623	c.6592C>T	c.(6592-6594)Ccg>Tcg	p.P2198S	DNAH11_ENST00000328843.6_Missense_Mutation_p.P2205S	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2205	AAA 2. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GAAACAGAAGCCGGTTTGGAA	0.383									Kartagener syndrome																													uc003svc.2		NA																	0				ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(6613-6615)CCG>TCG		dynein, axonemal, heavy chain 11							75.0	72.0	73.0					7																	21747362		1852	4090	5942	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21747362C>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.6592C>T	7.37:g.21747362C>T	ENSP00000475939:p.Pro2198Ser						p.P2205S	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			41	6644	+			2205			AAA 2 (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.6613C>T		.	.	.	.	.	.	.	.	.	.	C	26.5	4.748416	0.89753	.	.	ENSG00000105877	ENST00000328843	T	0.39229	1.09	5.87	5.87	0.94306	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.000000	0.85682	D	0.000000	T	0.54565	0.1866	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.35351	-0.9792	9	0.10111	T	0.7	.	15.7056	0.77577	0.0:0.9329:0.0:0.0671	.	2205	Q96DT5	DYH11_HUMAN	S	2205	ENSP00000330671:P2205S	ENSP00000330671:P2205S	P	+	1	0	DNAH11	21713887	1.000000	0.71417	0.996000	0.52242	0.972000	0.66771	3.260000	0.51523	2.941000	0.99782	0.655000	0.94253	CCG		0.383	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		13	25	0	0	0	0	13	25				
CCDC126	90693	broad.mit.edu	37	7	23682551	23682551	+	Splice_Site	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:23682551G>T	ENST00000307471.3	+	4	697	c.240G>T	c.(238-240)gcG>gcT	p.A80A	CCDC126_ENST00000410069.1_Splice_Site_p.A80A|CCDC126_ENST00000409765.1_Splice_Site_p.A80A	NM_138771.3	NP_620126.2	Q96EE4	CC126_HUMAN	coiled-coil domain containing 126	80					protein N-linked glycosylation (GO:0006487)	extracellular region (GO:0005576)|membrane (GO:0016020)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)			endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7						TTCCCCTAGCGGATCTGAAAA	0.368																																						uc003swl.2		NA																	0				ovary(1)|skin(1)	2						c.(238-240)GCG>GCT		coiled-coil domain containing 126 precursor							79.0	80.0	80.0					7																	23682551		2203	4300	6503	SO:0001630	splice_region_variant	90693					extracellular region		g.chr7:23682551G>T	BC012427	CCDS5384.1	7p15.3	2006-08-15			ENSG00000169193	ENSG00000169193			22398	protein-coding gene	gene with protein product						12477932	Standard	NM_138771		Approved	FLJ23031	uc003swl.3	Q96EE4	OTTHUMG00000128461	ENST00000307471.3:c.239-1G>T	7.37:g.23682551G>T						CCDC126_uc003swm.2_Silent_p.A80A|CCDC126_uc003swn.2_Silent_p.A80A	p.A80A	NM_138771	NP_620126	Q96EE4	CC126_HUMAN			4	697	+			80					A8K1J6|Q6UWP1|Q75MQ6	Silent	SNP	ENST00000307471.3	37	c.240G>T	CCDS5384.1																																																																																				0.368	CCDC126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250259.1	NM_138771	Silent	25	35	1	0	3.8e-18	5.33e-18	25	35				
Unknown	0	broad.mit.edu	37	7	28318964	28318964	+	IGR	SNP	C	C	A	rs183564551		TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:28318964C>A								JAZF1-AS1 (35428 upstream) : CREB5 (19975 downstream)																							CCAACCACCCCGTCTTGGCAG	0.468																																						uc010kuz.1		NA																	0					0						c.(355-357)GGG>TGG		hypothetical protein LOC402644							37.0	35.0	36.0					7																	28318964		692	1591	2283	SO:0001628	intergenic_variant	402644							g.chr7:28318964C>A																													7.37:g.28318964C>A							p.G119W	NM_001126493	NP_001119965					1	355	-									Missense_Mutation	SNP		37	c.355G>T																																																																																				0	0.468									19	30	1	0	1.96e-10	2.51e-10	19	30				
PDE1C	5137	broad.mit.edu	37	7	31864484	31864484	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:31864484G>C	ENST00000396191.1	-	13	1858	c.1403C>G	c.(1402-1404)tCg>tGg	p.S468W	PDE1C_ENST00000321453.7_Missense_Mutation_p.S468W|PDE1C_ENST00000396193.1_Missense_Mutation_p.S528W|PDE1C_ENST00000396184.3_Missense_Mutation_p.S468W|PDE1C_ENST00000396182.2_Missense_Mutation_p.S468W	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	468	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.S468*(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	CACTGACCTCGAACGCCTCTG	0.512																																						uc003tcm.1		NA																	2	Substitution - Nonsense(2)	p.S468S(1)	large_intestine(2)	skin(3)|central_nervous_system(1)	4						c.(1402-1404)TCG>TGG		phosphodiesterase 1C							167.0	141.0	150.0					7																	31864484		2203	4300	6503	SO:0001583	missense	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31864484G>C	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.1403C>G	7.37:g.31864484G>C	ENSP00000379494:p.Ser468Trp					PDE1C_uc003tcn.1_Missense_Mutation_p.S468W|PDE1C_uc003tco.1_Missense_Mutation_p.S528W|PDE1C_uc003tcr.2_Missense_Mutation_p.S468W|PDE1C_uc003tcs.2_Missense_Mutation_p.S468W	p.S468W	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		13	1872	-			468			Catalytic (By similarity).		B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396191.1	37	c.1403C>G	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.718400	0.48622	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	T;T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.76;-0.76	5.82	5.82	0.92795	.	0.460721	0.21290	N	0.076982	T	0.68677	0.3027	L	0.32530	0.975	0.80722	D	1	B;B;B	0.33694	0.213;0.421;0.099	B;B;B	0.33295	0.126;0.161;0.034	T	0.68569	-0.5374	10	0.54805	T	0.06	.	19.6844	0.95976	0.0:0.0:1.0:0.0	.	468;528;468	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	W	528;468;468;468;468	ENSP00000379496:S528W;ENSP00000379494:S468W;ENSP00000318105:S468W;ENSP00000379487:S468W;ENSP00000379485:S468W	ENSP00000318105:S468W	S	-	2	0	PDE1C	31831009	1.000000	0.71417	0.927000	0.36925	0.466000	0.32739	9.085000	0.94083	2.761000	0.94854	0.655000	0.94253	TCG		0.512	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			42	94	0	0	0	0	42	94				
BMPER	168667	broad.mit.edu	37	7	34009964	34009964	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:34009964G>A	ENST00000297161.2	+	6	800	c.426G>A	c.(424-426)ggG>ggA	p.G142G	BMPER_ENST00000426693.1_Silent_p.G142G	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	142	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CAGAGTCTGGGGTGCGCTGTG	0.488																																						uc011kap.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(424-426)GGG>GGA		BMP-binding endothelial regulator precursor							238.0	201.0	214.0					7																	34009964		2203	4300	6503	SO:0001819	synonymous_variant	168667				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		g.chr7:34009964G>A		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.426G>A	7.37:g.34009964G>A							p.G142G	NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN			5	540	+			142			VWFC 2.		A8K1P8|Q8TF36	Silent	SNP	ENST00000297161.2	37	c.426G>A	CCDS5442.1	.	.	.	.	.	.	.	.	.	.	G	9.803	1.181068	0.21787	.	.	ENSG00000164619	ENST00000436222	.	.	.	5.75	2.16	0.27623	.	0.154328	0.56097	N	0.000028	T	0.64125	0.2570	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65138	-0.6241	6	0.87932	D	0	.	9.2217	0.37382	0.4628:0.0:0.5372:0.0	.	.	.	.	E	109	.	ENSP00000399843:G109E	G	+	2	0	BMPER	33976489	1.000000	0.71417	0.967000	0.41034	0.651000	0.38670	0.816000	0.27267	0.584000	0.29591	0.655000	0.94253	GGG		0.488	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		44	77	0	0	0	0	44	77				
URGCP	55665	broad.mit.edu	37	7	43917780	43917780	+	Missense_Mutation	SNP	C	C	A	rs549475424		TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:43917780C>A	ENST00000453200.1	-	6	1775	c.1282G>T	c.(1282-1284)Gtg>Ttg	p.V428L	URGCP_ENST00000336086.6_Missense_Mutation_p.V385L|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000447717.3_Missense_Mutation_p.V385L|URGCP_ENST00000223341.7_Missense_Mutation_p.V385L|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000402306.3_Missense_Mutation_p.V419L|URGCP_ENST00000443736.1_Missense_Mutation_p.V385L			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	428					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ATCCTCTTCACGAAGCTGTCG	0.537																																						uc003tiw.2		NA																	0				ovary(2)|liver(1)|skin(1)	4						c.(1282-1284)GTG>TTG		up-regulated gene 4 isoform 3							99.0	101.0	101.0					7																	43917780		2061	4193	6254	SO:0001583	missense	55665				cell cycle	centrosome|nucleus	GTP binding	g.chr7:43917780C>A		CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"""up-regulated gene 4"""	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.1282G>T	7.37:g.43917780C>A	ENSP00000396918:p.Val428Leu					URGCP_uc003tiu.2_Missense_Mutation_p.V385L|URGCP_uc003tiv.2_Missense_Mutation_p.V353L|URGCP_uc003tix.2_Missense_Mutation_p.V419L|URGCP_uc003tiy.2_Missense_Mutation_p.V385L|URGCP_uc003tiz.2_Missense_Mutation_p.V385L|URGCP_uc011kbj.1_Missense_Mutation_p.V385L	p.V428L	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN			6	1339	-			428					E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	ENST00000453200.1	37	c.1282G>T	CCDS47578.1	.	.	.	.	.	.	.	.	.	.	C	9.801	1.180455	0.21787	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717	T;T;T;T;T;T	0.10099	2.92;2.92;2.91;2.92;2.91;2.92	5.48	3.66	0.41972	.	0.347831	0.28895	N	0.013793	T	0.10981	0.0268	L	0.47716	1.5	0.09310	N	0.999999	B;B	0.18610	0.029;0.029	B;B	0.20577	0.03;0.03	T	0.19321	-1.0309	10	0.59425	D	0.04	-25.9051	9.429	0.38597	0.0:0.7753:0.1443:0.0804	.	419;428	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	L	385;385;419;385;428;385	ENSP00000223341:V385L;ENSP00000336872:V385L;ENSP00000384955:V419L;ENSP00000392136:V385L;ENSP00000396918:V428L;ENSP00000402803:V385L	ENSP00000223341:V385L	V	-	1	0	URGCP	43884305	0.037000	0.19845	0.084000	0.20598	0.518000	0.34316	1.757000	0.38400	0.662000	0.31006	0.591000	0.81541	GTG		0.537	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664		46	110	1	0	1.49e-19	2.14e-19	46	110				
DDX56	54606	broad.mit.edu	37	7	44609415	44609415	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:44609415G>A	ENST00000258772.5	-	9	1318	c.1212C>T	c.(1210-1212)ctC>ctT	p.L404L	DDX56_ENST00000485367.1_5'UTR|DDX56_ENST00000431640.1_Silent_p.L364L	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	404	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						TACCTCCACTGAGAAGCTCCT	0.507																																						uc003tlg.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(1210-1212)CTC>CTT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 56							112.0	94.0	100.0					7																	44609415		2202	4300	6502	SO:0001819	synonymous_variant	54606				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding	g.chr7:44609415G>A	AJ131712	CCDS5492.1, CCDS59053.1	7p13	2012-02-23	2012-02-23		ENSG00000136271	ENSG00000136271		"""DEAD-boxes"""	18193	protein-coding gene	gene with protein product	"""nucleolar helicase of 61 kDa"""	608023	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 56"""			10749921	Standard	NM_019082		Approved	NOH61	uc003tlg.4	Q9NY93	OTTHUMG00000129211	ENST00000258772.5:c.1212C>T	7.37:g.44609415G>A						DDX56_uc003tle.2_RNA|DDX56_uc003tlf.2_Silent_p.L340L|DDX56_uc003tlh.2_RNA|DDX56_uc010kyg.2_Silent_p.L364L|DDX56_uc010kyh.1_RNA	p.L404L	NM_019082	NP_061955	Q9NY93	DDX56_HUMAN			9	1855	-			404			Helicase C-terminal.		A4D2K9|C9JV95|Q6IAE2|Q9H9I8	Silent	SNP	ENST00000258772.5	37	c.1212C>T	CCDS5492.1																																																																																				0.507	DDX56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251291.1	NM_019082		12	12	0	0	0	0	12	12				
ZNF479	90827	broad.mit.edu	37	7	57194381	57194381	+	Silent	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:57194381C>T	ENST00000331162.4	-	3	354	c.84G>A	c.(82-84)gaG>gaA	p.E28E		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	28	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)			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)			ATTGCCATTCCTCCAGAGAGA	0.438																																						uc010kzo.2		NA																	0				ovary(3)|skin(1)	4						c.(82-84)GAG>GAA		zinc finger protein 479							48.0	49.0	49.0					7																	57194381		2171	4275	6446	SO:0001819	synonymous_variant	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57194381C>T	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.84G>A	7.37:g.57194381C>T							p.E28E	NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		3	355	-			28			KRAB.			Silent	SNP	ENST00000331162.4	37	c.84G>A	CCDS43590.1																																																																																				0.438	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		30	46	0	0	0	0	30	46				
Unknown	0	broad.mit.edu	37	7	63680233	63680233	+	IGR	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:63680233C>A								GUSBP6 (69134 upstream) : ZNF679 (8618 downstream)																							GAGAGAAACCCTACGCATGTG	0.448																																						uc011kdn.1		NA																	0					0						c.(802-804)CCC>CCA		zinc finger protein 735							20.0	20.0	20.0					7																	63680233		692	1591	2283	SO:0001628	intergenic_variant	730291				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63680233C>A																													7.37:g.63680233C>A							p.P268P	NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN			4	804	+			268						Silent	SNP		37	c.804C>A																																																																																				0	0.448									8	22	1	0	0.000157383	0.000174701	8	22				
NSUN5	55695	broad.mit.edu	37	7	72718297	72718297	+	Silent	SNP	C	C	A	rs368355769		TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:72718297C>A	ENST00000252594.6	-	7	879	c.864G>T	c.(862-864)gcG>gcT	p.A288A	NSUN5_ENST00000310326.8_Silent_p.A288A|NSUN5_ENST00000428206.1_Silent_p.A250A|NSUN5_ENST00000438747.2_Silent_p.A288A			Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	288					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)	p.A288A(1)		breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				AGGGGGAGACCGCCAGGAAGT	0.632																																						uc003txw.2		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)		0						c.(862-864)GCG>GCT		NOL1/NOP2/Sun domain family, member 5 isoform 2							47.0	45.0	46.0					7																	72718297		2203	4300	6503	SO:0001819	synonymous_variant	55695						methyltransferase activity	g.chr7:72718297C>A	AF420249	CCDS5546.1, CCDS5547.1, CCDS55118.1, CCDS55119.1	7q11.23	2010-04-08	2009-11-23	2005-01-14	ENSG00000130305	ENSG00000130305		"""NOP2/Sun domain containing"""	16385	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 5A"""	615732	"""Williams Beuren syndrome chromosome region 20A"", ""NOL1/NOP2/Sun domain family, member 5"""	WBSCR20, WBSCR20A		11978965, 12073013	Standard	NM_148956		Approved	NOL1R, p120, (NOL1), FLJ10267, NSUN5A, Ynl022cL	uc011kev.2	Q96P11	OTTHUMG00000129869	ENST00000252594.6:c.864G>T	7.37:g.72718297C>A						FKBP6_uc003twz.2_Intron|NSUN5_uc003txv.2_Silent_p.A288A|NSUN5_uc003txx.2_Silent_p.A250A|NSUN5_uc011kev.1_Silent_p.A288A	p.A288A	NM_018044	NP_060514	Q96P11	NSUN5_HUMAN			7	900	-		Lung NSC(55;0.163)	288					B3KX04|B4DP79|G3V0G9|Q6ZUI8|Q96HT9|Q9NW70	Silent	SNP	ENST00000252594.6	37	c.864G>T	CCDS5547.1																																																																																				0.632	NSUN5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252113.1	NM_148956		17	33	1	0	5.39e-06	6.24e-06	17	33				
PCLO	27445	broad.mit.edu	37	7	82584629	82584629	+	Silent	SNP	T	T	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:82584629T>A	ENST00000333891.9	-	5	5977	c.5640A>T	c.(5638-5640)gtA>gtT	p.V1880V	PCLO_ENST00000423517.2_Silent_p.V1880V	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AAACTTTTTGTACTTCTATTA	0.368																																						uc003uhx.2		NA																	0				ovary(7)	7						c.(5638-5640)GTA>GTT		piccolo isoform 1							77.0	71.0	73.0					7																	82584629		1812	4067	5879	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82584629T>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.5640A>T	7.37:g.82584629T>A						PCLO_uc003uhv.2_Silent_p.V1880V	p.V1880V	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			5	5929	-			1811						Silent	SNP	ENST00000333891.9	37	c.5640A>T	CCDS47630.1																																																																																				0.368	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		22	34	0	0	0	0	22	34				
ABCB1	5243	broad.mit.edu	37	7	87173503	87173503	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:87173503G>T	ENST00000265724.3	-	18	2570	c.2153C>A	c.(2152-2154)gCc>gAc	p.A718D	ABCB1_ENST00000543898.1_Missense_Mutation_p.A654D	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	718	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	ATTTATAATGGCACAAAATAC	0.358																																						uc003uiz.1		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(2152-2154)GCC>GAC		ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						113.0	112.0	113.0					7																	87173503		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87173503G>T	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.2153C>A	7.37:g.87173503G>T	ENSP00000265724:p.Ala718Asp					ABCB1_uc011khc.1_Missense_Mutation_p.A654D	p.A718D	NM_000927	NP_000918	P08183	MDR1_HUMAN			18	2571	-	Esophageal squamous(14;0.00164)		718			ABC transmembrane type-1 2.|Helical; (Potential).		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.2153C>A	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	G	32	5.161100	0.94727	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.92699	-3.09;-3.09	6.01	6.01	0.97437	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.148683	0.64402	D	0.000013	D	0.97303	0.9118	M	0.92169	3.28	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.85130	0.997;0.995	D	0.97395	0.9992	10	0.87932	D	0	-13.5578	20.5211	0.99222	0.0:0.0:1.0:0.0	.	654;718	B5AK60;P08183	.;MDR1_HUMAN	D	499;718;654	ENSP00000265724:A718D;ENSP00000444095:A654D	ENSP00000265724:A718D	A	-	2	0	ABCB1	87011439	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	9.162000	0.94745	2.861000	0.98227	0.650000	0.86243	GCC		0.358	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		33	55	1	0	1.4e-27	2.11e-27	33	55				
STEAP4	79689	broad.mit.edu	37	7	87910388	87910388	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:87910388G>A	ENST00000380079.4	-	4	1092	c.991C>T	c.(991-993)Ctc>Ttc	p.L331F	AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000595121.1_RNA|STEAP4_ENST00000301959.5_Missense_Mutation_p.L155F	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	331	Ferric oxidoreductase.				copper ion import (GO:0015677)|fat cell differentiation (GO:0045444)|ferric iron import into cell (GO:0097461)|iron ion homeostasis (GO:0055072)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					TCCTTCTTGAGTATTGCCTAA	0.368																																						uc003ujs.2		NA																	0					0						c.(991-993)CTC>TTC		tumor necrosis factor, alpha-induced protein 9							64.0	62.0	63.0					7																	87910388		1855	4105	5960	SO:0001583	missense	79689				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	g.chr7:87910388G>A	AK026806	CCDS43611.1, CCDS56494.1	7q21.13	2014-01-28	2005-06-15	2005-06-15	ENSG00000127954	ENSG00000127954			21923	protein-coding gene	gene with protein product		611098	"""tumor necrosis factor, alpha-induced protein 9"""	TNFAIP9		11443137, 15897894	Standard	NM_024636		Approved	FLJ23153, TIARP, STAMP2	uc003ujs.3	Q687X5	OTTHUMG00000153853	ENST00000380079.4:c.991C>T	7.37:g.87910388G>A	ENSP00000369419:p.Leu331Phe					STEAP4_uc010lek.2_Missense_Mutation_p.L155F	p.L331F	NM_024636	NP_078912	Q687X5	STEA4_HUMAN			4	1096	-	Esophageal squamous(14;0.00802)		331			Ferric oxidoreductase.		Q658Q9|Q687X4|Q8WWB0|Q9H5R1	Missense_Mutation	SNP	ENST00000380079.4	37	c.991C>T	CCDS43611.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.552433	0.45487	.	.	ENSG00000127954	ENST00000380079;ENST00000301959	T;T	0.12879	3.28;2.64	6.08	-11.1	0.00147	Flavoprotein transmembrane component (1);	1.355360	0.04196	N	0.329084	T	0.06005	0.0156	N	0.08118	0	0.09310	N	1	B;B	0.26002	0.113;0.139	B;B	0.35413	0.087;0.202	T	0.43130	-0.9410	10	0.72032	D	0.01	2.3194	2.0252	0.03517	0.144:0.2455:0.1629:0.4475	.	155;331	Q687X5-2;Q687X5	.;STEA4_HUMAN	F	331;155	ENSP00000369419:L331F;ENSP00000305545:L155F	ENSP00000305545:L155F	L	-	1	0	STEAP4	87748324	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.254000	0.02874	-1.936000	0.01048	-0.229000	0.12294	CTC		0.368	STEAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332712.4	NM_024636		13	23	0	0	0	0	13	23				
STEAP2	261729	broad.mit.edu	37	7	89856546	89856546	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:89856546A>G	ENST00000287908.3	+	3	1147	c.754A>G	c.(754-756)Ata>Gta	p.I252V	STEAP2_ENST00000394629.2_Missense_Mutation_p.I252V|STEAP2_ENST00000394621.2_Missense_Mutation_p.I252V|STEAP2_ENST00000394622.2_Missense_Mutation_p.I252V|STEAP2_ENST00000394632.1_Missense_Mutation_p.I252V|STEAP2_ENST00000402625.2_Missense_Mutation_p.I252V|STEAP2_ENST00000394626.1_Missense_Mutation_p.I252V	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	252					copper ion import (GO:0015677)|endocytosis (GO:0006897)|ferric iron import into cell (GO:0097461)|Golgi to plasma membrane transport (GO:0006893)|iron ion homeostasis (GO:0055072)|regulated secretory pathway (GO:0045055)|response to hormone (GO:0009725)	cytosol (GO:0005829)|early endosome (GO:0005769)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					CAAAATTCCTATAGAGATTGT	0.378																																						uc003ujz.2		NA																	0				ovary(2)	2						c.(754-756)ATA>GTA		six transmembrane epithelial antigen of the							96.0	91.0	93.0					7																	89856546		2203	4300	6503	SO:0001583	missense	261729				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity	g.chr7:89856546A>G	AF455138	CCDS5615.1, CCDS43612.1, CCDS59064.1	7q21.13	2011-09-30	2011-09-30		ENSG00000157214	ENSG00000157214			17885	protein-coding gene	gene with protein product		605094	"""prostate cancer associated protein 1"", ""six transmembrane epithelial antigen of the prostate 2"""	PCANAP1		10613842, 12095985	Standard	NM_001040665		Approved	IPCA-1, STAMP1, STMP	uc003ujz.3	Q8NFT2	OTTHUMG00000023341	ENST00000287908.3:c.754A>G	7.37:g.89856546A>G	ENSP00000287908:p.Ile252Val					STEAP2_uc003ujy.2_Missense_Mutation_p.I294V|STEAP2_uc010len.2_Missense_Mutation_p.I252V|STEAP2_uc003uka.2_Missense_Mutation_p.I252V|STEAP2_uc003ukb.2_Missense_Mutation_p.I252V|STEAP2_uc003ukc.2_Missense_Mutation_p.I252V|STEAP2_uc003ukd.2_Missense_Mutation_p.I252V	p.I252V	NM_152999	NP_694544	Q8NFT2	STEA2_HUMAN			3	1147	+	all_hematologic(106;0.112)		252					A4D1F1|G5E9C6|Q6UXN6|Q6YPB1|Q8IUE7	Missense_Mutation	SNP	ENST00000287908.3	37	c.754A>G	CCDS5615.1	.	.	.	.	.	.	.	.	.	.	A	8.508	0.865939	0.17250	.	.	ENSG00000157214	ENST00000287908;ENST00000394626;ENST00000394622;ENST00000394632;ENST00000394624;ENST00000394621;ENST00000402625;ENST00000394629	T;T;T;T;T;T;T	0.07567	3.47;3.22;3.47;3.18;3.47;3.2;3.22	6.08	4.9	0.64082	.	0.169443	0.52532	N	0.000080	T	0.08537	0.0212	L	0.37897	1.145	0.36617	D	0.875565	B;B;B;B	0.30793	0.295;0.195;0.035;0.035	B;B;B;B	0.33254	0.16;0.077;0.023;0.012	T	0.30563	-0.9974	9	.	.	.	-17.9095	12.3975	0.55393	0.934:0.0:0.066:0.0	.	252;252;252;252	G5E9C6;Q6YPB2;Q8NFT2;B5MC02	.;.;STEA2_HUMAN;.	V	252	ENSP00000287908:I252V;ENSP00000378123:I252V;ENSP00000378120:I252V;ENSP00000378128:I252V;ENSP00000378119:I252V;ENSP00000384191:I252V;ENSP00000378125:I252V	.	I	+	1	0	STEAP2	89694482	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	2.745000	0.47459	1.088000	0.41272	0.533000	0.62120	ATA		0.378	STEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059662.4	NM_152999		36	62	0	0	0	0	36	62				
PEX1	5189	broad.mit.edu	37	7	92143172	92143172	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:92143172C>G	ENST00000248633.4	-	6	1444	c.1349G>C	c.(1348-1350)aGa>aCa	p.R450T	PEX1_ENST00000438045.1_Missense_Mutation_p.R128T|PEX1_ENST00000541751.1_5'UTR|PEX1_ENST00000428214.1_Missense_Mutation_p.R450T	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	450					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TAAATTCTCTCTAGGTTGTAA	0.328																																						uc003uly.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1348-1350)AGA>ACA		peroxin1							84.0	89.0	87.0					7																	92143172		2203	4297	6500	SO:0001583	missense	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92143172C>G	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.1349G>C	7.37:g.92143172C>G	ENSP00000248633:p.Arg450Thr					PEX1_uc011khr.1_Missense_Mutation_p.R242T|PEX1_uc010ley.2_Missense_Mutation_p.R450T|PEX1_uc011khs.1_Missense_Mutation_p.R128T|PEX1_uc011kht.1_RNA	p.R450T	NM_000466	NP_000457	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		6	1445	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	450					A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Missense_Mutation	SNP	ENST00000248633.4	37	c.1349G>C	CCDS5627.1	.	.	.	.	.	.	.	.	.	.	C	9.685	1.150284	0.21371	.	.	ENSG00000127980	ENST00000438045;ENST00000248633;ENST00000428214;ENST00000545192	D;D;D	0.94232	-3.31;-3.33;-3.38	5.84	3.0	0.34707	.	0.566288	0.19820	N	0.105326	D	0.83055	0.5171	N	0.14661	0.345	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.69548	-0.5116	10	0.11485	T	0.65	-6.8115	6.7922	0.23705	0.0:0.4206:0.4059:0.1735	.	128;242;450	E9PE75;B4DER6;O43933	.;.;PEX1_HUMAN	T	128;450;450;450	ENSP00000410438:R128T;ENSP00000248633:R450T;ENSP00000394413:R450T	ENSP00000248633:R450T	R	-	2	0	PEX1	91981108	0.966000	0.33281	0.998000	0.56505	0.950000	0.60333	0.202000	0.17295	0.350000	0.24002	0.561000	0.74099	AGA		0.328	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		41	70	0	0	0	0	41	70				
HEPACAM2	253012	broad.mit.edu	37	7	92848626	92848626	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:92848626G>A	ENST00000394468.2	-	2	295	c.218C>T	c.(217-219)cCc>cTc	p.P73L	HEPACAM2_ENST00000440868.1_Missense_Mutation_p.P61L|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.P61L|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.P96L	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	73					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						CATTGTGTGGGGTCTCTCAAA	0.498																																						uc003umm.2		NA																	0				ovary(3)|breast(1)|kidney(1)	5						c.(217-219)CCC>CTC		HEPACAM family member 2 isoform 1							163.0	157.0	159.0					7																	92848626		2203	4300	6503	SO:0001583	missense	253012					integral to membrane		g.chr7:92848626G>A	AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.218C>T	7.37:g.92848626G>A	ENSP00000377980:p.Pro73Leu					HEPACAM2_uc003uml.2_Missense_Mutation_p.P61L|HEPACAM2_uc010lff.2_Missense_Mutation_p.P61L|HEPACAM2_uc011khy.1_Missense_Mutation_p.P96L	p.P73L	NM_001039372	NP_001034461	A8MVW5	HECA2_HUMAN			2	241	-			73			Extracellular (Potential).		B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Missense_Mutation	SNP	ENST00000394468.2	37	c.218C>T	CCDS43616.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.578022	0.45902	.	.	ENSG00000188175	ENST00000394468;ENST00000341723;ENST00000440868;ENST00000453812	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	5.72	1.82	0.25136	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.377447	0.33075	N	0.005310	T	0.43809	0.1264	N	0.19112	0.55	0.43667	D	0.996095	B;P;B;B	0.39352	0.379;0.669;0.193;0.161	B;B;B;B	0.43889	0.129;0.435;0.081;0.107	T	0.14643	-1.0465	10	0.28530	T	0.3	-0.2298	3.3826	0.07260	0.1287:0.1255:0.5138:0.232	.	96;61;73;61	E9PDV5;C9JN07;A8MVW5;A8MVW5-2	.;.;HECA2_HUMAN;.	L	73;61;61;96	ENSP00000377980:P73L;ENSP00000340532:P61L;ENSP00000389592:P61L;ENSP00000390204:P96L	ENSP00000340532:P61L	P	-	2	0	HEPACAM2	92686562	0.355000	0.24921	0.969000	0.41365	0.285000	0.27093	0.538000	0.23160	0.120000	0.18254	-0.145000	0.13849	CCC		0.498	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254651.1	NM_198151		38	55	0	0	0	0	38	55				
FBXO24	26261	broad.mit.edu	37	7	100192139	100192139	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:100192139C>A	ENST00000241071.6	+	6	1249	c.927C>A	c.(925-927)aaC>aaA	p.N309K	FBXO24_ENST00000468962.1_Missense_Mutation_p.N297K|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Missense_Mutation_p.N347K|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000465843.1_Missense_Mutation_p.N295K|FBXO24_ENST00000360609.2_Missense_Mutation_p.N295K	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	309					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TGACTTCCAACCAGAGCAGCA	0.602																																						uc003uvm.1		NA																	0				ovary(3)|skin(1)	4						c.(925-927)AAC>AAA		F-box only protein 24 isoform 1							96.0	68.0	78.0					7																	100192139		2203	4300	6503	SO:0001583	missense	26261					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr7:100192139C>A	AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"""F-boxes /  ""other"""""	13595	protein-coding gene	gene with protein product		609097	"""F-box only protein 24"""			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.927C>A	7.37:g.100192139C>A	ENSP00000241071:p.Asn309Lys					FBXO24_uc003uvl.1_Missense_Mutation_p.N295K|FBXO24_uc003uvn.1_Missense_Mutation_p.N4K|uc011kjy.1_Intron|FBXO24_uc011kjz.1_Missense_Mutation_p.N347K|FBXO24_uc011kka.1_Missense_Mutation_p.N297K	p.N309K	NM_033506	NP_277041	O75426	FBX24_HUMAN			6	1220	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		309					A4D2D4|B4DX91|B4DY42|Q9H0G1	Missense_Mutation	SNP	ENST00000241071.6	37	c.927C>A	CCDS5698.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.876450	0.33162	.	.	ENSG00000106336	ENST00000241071;ENST00000360609;ENST00000465843;ENST00000468962;ENST00000427939	T;T;T;T;T	0.80566	-1.39;0.72;0.72;-1.39;-1.39	5.03	3.08	0.35506	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.158427	0.43919	D	0.000502	T	0.68522	0.3010	N	0.08118	0	0.35571	D	0.805474	D;P;P;P;P	0.57257	0.979;0.915;0.842;0.842;0.571	P;B;B;B;B	0.49999	0.628;0.236;0.13;0.13;0.121	T	0.77275	-0.2648	10	0.87932	D	0	-16.0826	9.4321	0.38617	0.0:0.8088:0.0:0.1912	.	297;347;309;309;295	B4DY42;B4DX91;A4D2D3;O75426;O75426-2	.;.;.;FBX24_HUMAN;.	K	309;295;295;297;347	ENSP00000241071:N309K;ENSP00000353821:N295K;ENSP00000419602:N295K;ENSP00000420239:N297K;ENSP00000416558:N347K	ENSP00000241071:N309K	N	+	3	2	FBXO24	100030075	0.997000	0.39634	1.000000	0.80357	0.551000	0.35334	0.191000	0.17076	1.347000	0.45714	-0.730000	0.03578	AAC		0.602	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1			18	22	1	0	5.01e-05	5.62e-05	18	22				
ACHE	43	broad.mit.edu	37	7	100490790	100490790	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:100490790A>G	ENST00000412389.1	-	1	1219	c.1064T>C	c.(1063-1065)cTg>cCg	p.L355P	ACHE_ENST00000419336.2_Missense_Mutation_p.L355P|ACHE_ENST00000428317.1_Missense_Mutation_p.L355P|ACHE_ENST00000302913.4_Missense_Mutation_p.L355P|ACHE_ENST00000241069.5_Missense_Mutation_p.L355P|ACHE_ENST00000411582.1_Missense_Mutation_p.L355P			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	355					acetylcholine catabolic process (GO:0006581)|acetylcholine catabolic process in synaptic cleft (GO:0001507)|amyloid precursor protein metabolic process (GO:0042982)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|choline metabolic process (GO:0019695)|DNA replication (GO:0006260)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|negative regulation of synaptic transmission, cholinergic (GO:0032223)|nervous system development (GO:0007399)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter receptor biosynthetic process (GO:0045212)|osteoblast development (GO:0002076)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of protein secretion (GO:0050714)|protein tetramerization (GO:0051262)|receptor internalization (GO:0031623)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of receptor recycling (GO:0001919)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|cholinesterase activity (GO:0004104)|collagen binding (GO:0005518)|hydrolase activity (GO:0016787)|laminin binding (GO:0043236)|protein homodimerization activity (GO:0042803)|serine hydrolase activity (GO:0017171)			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium(DB00944)|Dipivefrin(DB00449)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Minaprine(DB00805)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pralidoxime(DB00733)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tubocurarine(DB01199)	AGTTACCTGCAGGCCGTGGAA	0.622																																						uc003uxd.2		NA																	0				skin(2)	2						c.(1063-1065)CTG>CCG		acetylcholinesterase isoform E4-E6 precursor	Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)						56.0	46.0	50.0					7																	100490790		2203	4300	6503	SO:0001583	missense	43				acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity	g.chr7:100490790A>G		CCDS5709.1, CCDS5710.1, CCDS64736.1	7q22	2014-07-19	2014-01-02		ENSG00000087085	ENSG00000087085	3.1.1.7	"""Blood group antigens"""	108	protein-coding gene	gene with protein product	"""Yt blood group"""	100740	"""acetylcholinesterase (YT blood group)"", ""acetylcholinesterase (Yt blood group)"", ""acetylcholinesterase"""	YT		1380483	Standard	XM_005250357		Approved		uc003uxe.3	P22303	OTTHUMG00000157033	ENST00000412389.1:c.1064T>C	7.37:g.100490790A>G	ENSP00000394976:p.Leu355Pro					ACHE_uc003uxe.2_Missense_Mutation_p.L355P|ACHE_uc003uxf.2_Missense_Mutation_p.L355P|ACHE_uc003uxg.2_Missense_Mutation_p.L355P|ACHE_uc003uxh.2_Missense_Mutation_p.L355P|ACHE_uc003uxi.2_Missense_Mutation_p.L355P|ACHE_uc003uxj.1_Missense_Mutation_p.L474P	p.L355P	NM_000665	NP_000656	P22303	ACES_HUMAN			1	1220	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		355					A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Missense_Mutation	SNP	ENST00000412389.1	37	c.1064T>C	CCDS5709.1	.	.	.	.	.	.	.	.	.	.	A	12.48	1.952081	0.34471	.	.	ENSG00000087085	ENST00000419336;ENST00000241069;ENST00000428317;ENST00000302913;ENST00000412389;ENST00000426415;ENST00000430554;ENST00000411582;ENST00000422451	T;T;T;T;T;T;T;T	0.68025	-0.3;1.92;1.92;1.92;1.92;1.92;1.92;1.92	5.03	5.03	0.67393	Carboxylesterase, type B (1);	0.363396	0.28677	N	0.014504	T	0.74291	0.3697	L	0.43152	1.355	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;0.996;0.997	T	0.75717	-0.3220	10	0.59425	D	0.04	.	11.1183	0.48273	1.0:0.0:0.0:0.0	.	355;355;355;355	B7WPI6;P22303-3;P22303-2;P22303	.;.;.;ACES_HUMAN	P	355	ENSP00000403474:L355P;ENSP00000241069:L355P;ENSP00000414858:L355P;ENSP00000303211:L355P;ENSP00000394976:L355P;ENSP00000397143:L355P;ENSP00000399725:L355P;ENSP00000404865:L355P	ENSP00000241069:L355P	L	-	2	0	ACHE	100328726	1.000000	0.71417	0.990000	0.47175	0.327000	0.28475	2.557000	0.45871	1.890000	0.54733	0.397000	0.26171	CTG		0.622	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347201.1	NM_015831		7	19	0	0	0	0	7	19				
MUC17	140453	broad.mit.edu	37	7	100679156	100679156	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:100679156G>A	ENST00000306151.4	+	3	4523	c.4459G>A	c.(4459-4461)Gtc>Atc	p.V1487I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1487	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGTCCTGTGGTCACTTCTAC	0.468																																						uc003uxp.1		NA																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(4459-4461)GTC>ATC		mucin 17 precursor							157.0	162.0	160.0					7																	100679156		2203	4297	6500	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100679156G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4459G>A	7.37:g.100679156G>A	ENSP00000302716:p.Val1487Ile					MUC17_uc010lho.1_RNA	p.V1487I	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	4512	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1487			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|23.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.4459G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	3.145	-0.175429	0.06421	.	.	ENSG00000169876	ENST00000306151	T	0.02369	4.32	1.19	-1.92	0.07618	.	.	.	.	.	T	0.01592	0.0051	N	0.14661	0.345	0.09310	N	1	B	0.20261	0.043	B	0.06405	0.002	T	0.46034	-0.9220	9	0.32370	T	0.25	.	2.4067	0.04414	0.3158:0.0:0.4228:0.2614	.	1487	Q685J3	MUC17_HUMAN	I	1487	ENSP00000302716:V1487I	ENSP00000302716:V1487I	V	+	1	0	MUC17	100465876	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.601000	0.02081	-1.227000	0.02571	-1.616000	0.00795	GTC		0.468	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		100	238	0	0	0	0	100	238				
RELN	5649	broad.mit.edu	37	7	103389906	103389906	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:103389906G>T	ENST00000428762.1	-	6	782	c.623C>A	c.(622-624)tCc>tAc	p.S208Y	RELN_ENST00000424685.2_Missense_Mutation_p.S208Y|RELN_ENST00000343529.5_Missense_Mutation_p.S208Y	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	208					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTGGTGGTAGGAGTCAAAGTC	0.343																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(622-624)TCC>TAC		reelin isoform a							197.0	189.0	192.0					7																	103389906		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103389906G>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.623C>A	7.37:g.103389906G>T	ENSP00000392423:p.Ser208Tyr					RELN_uc010liz.2_Missense_Mutation_p.S208Y	p.S208Y	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	6	783	-			208					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.623C>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086978	0.55861	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.30182	1.54;1.54;1.54	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.53899	0.1825	M	0.64997	1.995	0.51482	D	0.999927	D;D	0.64830	0.994;0.99	D;D	0.74348	0.983;0.962	T	0.55082	-0.8196	10	0.87932	D	0	.	17.1184	0.86695	0.0:0.0:1.0:0.0	.	208;208	P78509-2;P78509	.;RELN_HUMAN	Y	208	ENSP00000392423:S208Y;ENSP00000345694:S208Y;ENSP00000388446:S208Y	ENSP00000345694:S208Y	S	-	2	0	RELN	103177142	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.541000	0.67212	2.650000	0.89964	0.655000	0.94253	TCC		0.343	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		57	70	1	0	2.17e-29	3.28e-29	57	70				
LAMB4	22798	broad.mit.edu	37	7	107704266	107704266	+	Missense_Mutation	SNP	C	C	T	rs142967094		TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:107704266C>T	ENST00000388781.3	-	22	3084	c.3001G>A	c.(3001-3003)Gca>Aca	p.A1001T	LAMB4_ENST00000205386.4_Missense_Mutation_p.A1001T|LAMB4_ENST00000388780.3_Missense_Mutation_p.A1001T	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1001	Laminin EGF-like 10. {ECO:0000255|PROSITE-ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TGGCAGTTTGCGCCCTGAGTG	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		20079	0.001		0.0	False		,,,				2504	0.0					uc010ljo.1		NA																	0				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						c.(3001-3003)GCA>ACA		laminin, beta 4 precursor		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	186.0	159.0	168.0		3001	-2.5	0.0	7	dbSNP_134	168	0,8600		0,0,4300	no	missense	LAMB4	NM_007356.2	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	1001/1762	107704266	1,13005	2203	4300	6503	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107704266C>T	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.3001G>A	7.37:g.107704266C>T	ENSP00000373433:p.Ala1001Thr					LAMB4_uc003vey.2_Missense_Mutation_p.A1001T|LAMB4_uc010ljp.1_5'UTR	p.A1001T	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN			22	3085	-			1001			Laminin EGF-like 10.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.3001G>A	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	C	4.928	0.172468	0.09391	2.27E-4	0.0	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	T;T;T;T	0.61274	0.12;0.12;0.12;0.12	5.11	-2.5	0.06384	EGF-like, laminin (4);	0.583740	0.15370	N	0.265890	T	0.32496	0.0831	L	0.28344	0.845	0.09310	N	0.999999	B	0.09022	0.002	B	0.04013	0.001	T	0.12630	-1.0540	10	0.18276	T	0.48	.	3.3768	0.07241	0.1212:0.3658:0.2537:0.2593	.	1001	A4D0S4	LAMB4_HUMAN	T	1001;1001;27;1001	ENSP00000205386:A1001T;ENSP00000373433:A1001T;ENSP00000416562:A27T;ENSP00000373432:A1001T	ENSP00000205386:A1001T	A	-	1	0	LAMB4	107491502	0.008000	0.16893	0.000000	0.03702	0.016000	0.09150	0.507000	0.22675	-0.414000	0.07495	-2.485000	0.00197	GCA		0.527	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		51	107	0	0	0	0	51	107				
IFRD1	3475	broad.mit.edu	37	7	112097034	112097034	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:112097034A>G	ENST00000403825.3	+	4	611	c.350A>G	c.(349-351)gAa>gGa	p.E117G	IFRD1_ENST00000005558.4_Missense_Mutation_p.E117G|IFRD1_ENST00000535603.1_Missense_Mutation_p.E67G|IFRD1_ENST00000429071.1_Missense_Mutation_p.E117G	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	117					adult somatic muscle development (GO:0007527)|multicellular organismal development (GO:0007275)|myoblast fate determination (GO:0007518)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						ATGCTGTATGAATTTATTCTG	0.368																																						uc003vgh.2		NA																	0				kidney(1)|central_nervous_system(1)	2						c.(349-351)GAA>GGA		interferon-related developmental regulator 1							91.0	90.0	90.0					7																	112097034		2203	4300	6503	SO:0001583	missense	3475				multicellular organismal development|myoblast cell fate determination		binding	g.chr7:112097034A>G	Y10313	CCDS34736.1, CCDS56504.1	7q31.1	2005-10-17			ENSG00000006652	ENSG00000006652			5456	protein-coding gene	gene with protein product		603502				9722946	Standard	NM_001550		Approved	PC4, TIS7	uc003vgh.3	O00458	OTTHUMG00000155124	ENST00000403825.3:c.350A>G	7.37:g.112097034A>G	ENSP00000384477:p.Glu117Gly					IFRD1_uc011kmn.1_Missense_Mutation_p.E67G|IFRD1_uc003vgi.2_Missense_Mutation_p.E117G|IFRD1_uc003vgj.2_Missense_Mutation_p.E117G|IFRD1_uc011kmo.1_RNA|IFRD1_uc011kmp.1_Missense_Mutation_p.E67G	p.E117G	NM_001007245	NP_001007246	O00458	IFRD1_HUMAN			5	793	+			117					B7Z5G1|O75234|Q5U013|Q9BVE4	Missense_Mutation	SNP	ENST00000403825.3	37	c.350A>G	CCDS34736.1	.	.	.	.	.	.	.	.	.	.	A	31	5.101754	0.94245	.	.	ENSG00000006652	ENST00000005558;ENST00000403825;ENST00000429071;ENST00000476927;ENST00000440625;ENST00000535603	T;T;T;T	0.68765	-0.35;-0.35;1.28;-0.35	5.45	5.45	0.79879	Interferon-related developmental regulator, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.139319	0.64402	D	0.000005	T	0.77545	0.4146	M	0.61703	1.905	0.80722	D	1	P;P	0.48294	0.645;0.908	B;P	0.58620	0.329;0.842	T	0.80049	-0.1545	10	0.87932	D	0	-19.9395	15.7804	0.78255	1.0:0.0:0.0:0.0	.	117;117	C9JA65;O00458	.;IFRD1_HUMAN	G	117;117;117;67;67;67	ENSP00000005558:E117G;ENSP00000384477:E117G;ENSP00000402177:E67G;ENSP00000439188:E67G	ENSP00000005558:E117G	E	+	2	0	IFRD1	111884270	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	8.910000	0.92685	2.184000	0.69523	0.482000	0.46254	GAA		0.368	IFRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338700.1	NM_001550		26	40	0	0	0	0	26	40				
PPP1R3A	5506	broad.mit.edu	37	7	113518193	113518193	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:113518193G>T	ENST00000284601.3	-	4	3022	c.2954C>A	c.(2953-2955)tCa>tAa	p.S985*		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	985					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TCTACTACCTGATGTCACTAT	0.368																																						uc010ljy.1		NA																	0				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						c.(2953-2955)TCA>TAA		protein phosphatase 1, regulatory (inhibitor)							96.0	95.0	95.0					7																	113518193		2202	4298	6500	SO:0001587	stop_gained	5506				glycogen metabolic process	integral to membrane		g.chr7:113518193G>T	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.2954C>A	7.37:g.113518193G>T	ENSP00000284601:p.Ser985*						p.S985*	NM_002711	NP_002702	Q16821	PPR3A_HUMAN			4	2985	-			985					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Nonsense_Mutation	SNP	ENST00000284601.3	37	c.2954C>A	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.045330	0.75846	.	.	ENSG00000154415	ENST00000284601	.	.	.	5.71	4.83	0.62350	.	0.363007	0.23712	N	0.045302	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.4016	13.7635	0.62981	0.0736:0.0:0.9264:0.0	.	.	.	.	X	985	.	ENSP00000284601:S985X	S	-	2	0	PPP1R3A	113305429	0.330000	0.24705	0.005000	0.12908	0.113000	0.19764	3.693000	0.54735	1.409000	0.46915	0.650000	0.86243	TCA		0.368	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		12	90	1	0	1.09e-07	1.31e-07	12	90				
RNF133	168433	broad.mit.edu	37	7	122338457	122338457	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:122338457G>A	ENST00000340112.2	-	1	753	c.516C>T	c.(514-516)ctC>ctT	p.L172L	CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000334010.7_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	172					protein autoubiquitination (GO:0051865)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						CGGCTGTAATGAGAACTCCCT	0.398																																					Colon(198;1778 2057 7449 19869 45985)	uc003vkj.1		NA																	0				skin(1)	1						c.(514-516)CTC>CTT		ring finger protein 133							127.0	117.0	121.0					7																	122338457		2203	4300	6503	SO:0001819	synonymous_variant	168433					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding	g.chr7:122338457G>A	AF447589	CCDS5784.1	7q31.33	2013-01-09			ENSG00000188050	ENSG00000188050		"""RING-type (C3HC4) zinc fingers"""	21154	protein-coding gene	gene with protein product							Standard	NM_139175		Approved		uc003vkj.1	Q8WVZ7	OTTHUMG00000157092	ENST00000340112.2:c.516C>T	7.37:g.122338457G>A						CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron	p.L172L	NM_139175	NP_631914	Q8WVZ7	RN133_HUMAN			1	752	-			172					A4D0W2|Q8N7G7	Silent	SNP	ENST00000340112.2	37	c.516C>T	CCDS5784.1																																																																																				0.398	RNF133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347413.1	NM_139175		51	96	0	0	0	0	51	96				
RNF133	168433	broad.mit.edu	37	7	122338764	122338764	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:122338764C>A	ENST00000340112.2	-	1	446	c.209G>T	c.(208-210)aGa>aTa	p.R70I	CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000334010.7_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	70	PA.				protein autoubiquitination (GO:0051865)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						TCCTGCCACTCTCTTCAAAGT	0.433																																					Colon(198;1778 2057 7449 19869 45985)	uc003vkj.1		NA																	0				skin(1)	1						c.(208-210)AGA>ATA		ring finger protein 133							94.0	101.0	99.0					7																	122338764		2203	4300	6503	SO:0001583	missense	168433					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding	g.chr7:122338764C>A	AF447589	CCDS5784.1	7q31.33	2013-01-09			ENSG00000188050	ENSG00000188050		"""RING-type (C3HC4) zinc fingers"""	21154	protein-coding gene	gene with protein product							Standard	NM_139175		Approved		uc003vkj.1	Q8WVZ7	OTTHUMG00000157092	ENST00000340112.2:c.209G>T	7.37:g.122338764C>A	ENSP00000344489:p.Arg70Ile					CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron	p.R70I	NM_139175	NP_631914	Q8WVZ7	RN133_HUMAN			1	445	-			70			PA.		A4D0W2|Q8N7G7	Missense_Mutation	SNP	ENST00000340112.2	37	c.209G>T	CCDS5784.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.975872	0.53720	.	.	ENSG00000188050	ENST00000340112	T	0.14766	2.48	6.06	4.16	0.48862	.	0.820693	0.10933	N	0.618160	T	0.24470	0.0593	M	0.72479	2.2	0.80722	D	1	P	0.50443	0.935	P	0.50791	0.65	T	0.03394	-1.1041	10	0.66056	D	0.02	.	6.6745	0.23085	0.0:0.6677:0.145:0.1873	.	70	Q8WVZ7	RN133_HUMAN	I	70	ENSP00000344489:R70I	ENSP00000344489:R70I	R	-	2	0	RNF133	122126000	0.001000	0.12720	0.995000	0.50966	0.986000	0.74619	-0.262000	0.08682	1.570000	0.49709	0.655000	0.94253	AGA		0.433	RNF133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347413.1	NM_139175		63	78	1	0	2.45e-20	3.54e-20	63	78				
NDUFA5	4698	broad.mit.edu	37	7	123197486	123197486	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:123197486C>G	ENST00000355749.2	-	2	497	c.38G>C	c.(37-39)gGa>gCa	p.G13A	NDUFA5_ENST00000467117.1_5'UTR|NDUFA5_ENST00000471770.1_Missense_Mutation_p.G13A	NM_001282419.1|NM_005000.2	NP_001269348.1|NP_004991.1	Q16718	NDUA5_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5	13					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			large_intestine(1)|urinary_tract(1)	2						CACAGCCAATCCCACAAGGCC	0.423																																						uc003vks.2		NA																	0					0						c.(37-39)GGA>GCA		NADH dehydrogenase (ubiquinone) 1 alpha	NADH(DB00157)						120.0	91.0	101.0					7																	123197486		2203	4300	6503	SO:0001583	missense	4698				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr7:123197486C>G		CCDS5788.1, CCDS64760.1, CCDS75655.1, CCDS75656.1	7q31.33	2013-06-19	2013-06-19		ENSG00000128609	ENSG00000128609		"""Mitochondrial respiratory chain complex / Complex I"""	7688	protein-coding gene	gene with protein product	"""complex I 13kDa subunit B"", ""ubiquinone reductase"", ""type I dehydrogenase"", ""NADH-ubiquinone oxidoreductase 13 kDa-B subunit"""	601677	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 (13kD, B13)"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa"""			9763677, 9021153	Standard	XM_005250371		Approved	B13, NUFM, CI-13KD-B, UQOR13, CI-13kB	uc003vks.3	Q16718	OTTHUMG00000157348	ENST00000355749.2:c.38G>C	7.37:g.123197486C>G	ENSP00000347988:p.Gly13Ala					NDUFA5_uc003vkr.2_RNA|NDUFA5_uc003vkt.1_Missense_Mutation_p.G13A	p.G13A	NM_005000	NP_004991	Q16718	NDUA5_HUMAN			2	147	-			13					B2RD98|Q5H9R2|Q6IRX7	Missense_Mutation	SNP	ENST00000355749.2	37	c.38G>C	CCDS5788.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.398453	0.83120	.	.	ENSG00000128609	ENST00000471770;ENST00000355749;ENST00000470123;ENST00000340034	.	.	.	5.62	4.73	0.59995	.	.	.	.	.	D	0.86756	0.6009	H	0.95816	3.725	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.959	D	0.90622	0.4560	8	0.87932	D	0	.	14.6722	0.68953	0.1469:0.8531:0.0:0.0	.	13;13	E7ENS4;Q16718	.;NDUA5_HUMAN	A	13;13;23;13	.	ENSP00000341719:G13A	G	-	2	0	NDUFA5	122984722	1.000000	0.71417	0.994000	0.49952	0.871000	0.50021	4.896000	0.63222	1.332000	0.45431	0.655000	0.94253	GGA		0.423	NDUFA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348533.1	NM_005000		5	54	0	0	0	0	5	54				
GCC1	79571	broad.mit.edu	37	7	127224972	127224972	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:127224972T>A	ENST00000321407.2	-	1	689	c.265A>T	c.(265-267)Act>Tct	p.T89S	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	89					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TCGCTGTGAGTGGAGCACCGG	0.597																																						uc003vma.2		NA																	0				ovary(2)	2						c.(265-267)ACT>TCT		Golgi coiled-coil protein 1							75.0	71.0	73.0					7																	127224972		2203	4300	6503	SO:0001583	missense	79571					Golgi membrane|plasma membrane	protein binding	g.chr7:127224972T>A	AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"""golgi coiled-coil 1"""			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.265A>T	7.37:g.127224972T>A	ENSP00000318821:p.Thr89Ser						p.T89S	NM_024523	NP_078799	Q96CN9	GCC1_HUMAN			1	683	-			89					Q9H6N7	Missense_Mutation	SNP	ENST00000321407.2	37	c.265A>T	CCDS5796.1	.	.	.	.	.	.	.	.	.	.	T	10.65	1.410646	0.25465	.	.	ENSG00000179562	ENST00000321407	T	0.11821	2.74	5.78	5.78	0.91487	.	0.124846	0.53938	D	0.000046	T	0.08846	0.0219	N	0.25647	0.755	0.30510	N	0.76954	B	0.33379	0.41	B	0.26614	0.071	T	0.11155	-1.0599	10	0.09590	T	0.72	-10.9557	14.0391	0.64663	0.0:0.0:0.0:1.0	.	89	Q96CN9	GCC1_HUMAN	S	89	ENSP00000318821:T89S	ENSP00000318821:T89S	T	-	1	0	GCC1	127012208	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	1.608000	0.36847	2.205000	0.71048	0.472000	0.43445	ACT		0.597	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	NM_024523		26	44	0	0	0	0	26	44				
RAB19	401409	broad.mit.edu	37	7	140125809	140125809	+	Silent	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:140125809C>T	ENST00000356407.3	+	3	581	c.513C>T	c.(511-513)gtC>gtT	p.V171V	RAB19_ENST00000275874.5_Silent_p.V218V|RAB19_ENST00000537763.1_Silent_p.V171V			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	171					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					TAGAAGAAGTCTTCGTGCTCA	0.582																																						uc010lni.2		NA																	0					0						c.(511-513)GTC>GTT		RAB19, member RAS oncogene family							100.0	97.0	98.0					7																	140125809		2203	4300	6503	SO:0001819	synonymous_variant	401409				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr7:140125809C>T		CCDS34762.1, CCDS34762.2	7q34	2014-05-09			ENSG00000146955	ENSG00000146955		"""RAB, member RAS oncogene"""	19982	protein-coding gene	gene with protein product							Standard	NM_001008749		Approved	RAB19B	uc010lni.2	A4D1S5	OTTHUMG00000157410	ENST00000356407.3:c.513C>T	7.37:g.140125809C>T						RAB19_uc011krc.1_Silent_p.V171V	p.V171V	NM_001008749	NP_001008749	A4D1S5	RAB19_HUMAN			4	711	+	Melanoma(164;0.0142)		171					A4D1S6|B2RTS6|B5MDR2|Q9UL27	Silent	SNP	ENST00000356407.3	37	c.513C>T	CCDS34762.2																																																																																				0.582	RAB19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348740.1			31	92	0	0	0	0	31	92				
TAS2R4	50832	broad.mit.edu	37	7	141478516	141478516	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:141478516G>A	ENST00000247881.2	+	1	275	c.228G>A	c.(226-228)agG>agA	p.R76R	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	76					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|respiratory gaseous exchange (GO:0007585)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		ATACGGAAAGGTCAGTCTACC	0.433																																						uc003vwq.1		NA																	0					0						c.(226-228)AGG>AGA		taste receptor T2R4							264.0	236.0	245.0					7																	141478516		2203	4300	6503	SO:0001819	synonymous_variant	50832				sensory perception of taste	cilium membrane	taste receptor activity	g.chr7:141478516G>A	AF227131	CCDS5868.1	7q31.3-q32	2012-08-22			ENSG00000127364	ENSG00000127364		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14911	protein-coding gene	gene with protein product		604869				10761934, 10761935	Standard	NM_016944		Approved	T2R4	uc003vwq.1	Q9NYW5	OTTHUMG00000157634	ENST00000247881.2:c.228G>A	7.37:g.141478516G>A							p.R76R	NM_016944	NP_058640	Q9NYW5	TA2R4_HUMAN		BRCA - Breast invasive adenocarcinoma(188;0.196)	1	228	+	Melanoma(164;0.0171)		76			Extracellular (Potential).		Q645W5|Q75MV8	Silent	SNP	ENST00000247881.2	37	c.228G>A	CCDS5868.1																																																																																				0.433	TAS2R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349285.1			65	116	0	0	0	0	65	116				
PRSS1	5644	broad.mit.edu	37	7	142459743	142459743	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:142459743G>A	ENST00000311737.7	+	3	325	c.319G>A	c.(319-321)Gac>Aac	p.D107N	PRSS1_ENST00000486171.1_Missense_Mutation_p.D121N	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	107	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	TCTGAACAATGACATCATGTT	0.552																																						uc003wak.2		NA																	0				large_intestine(1)|central_nervous_system(1)	2						c.(319-321)GAC>AAC		protease, serine, 1 preproprotein							243.0	224.0	231.0					7																	142459743		2203	4300	6503	SO:0001583	missense	5644	Hereditary_Pancreatitis			digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	g.chr7:142459743G>A	M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.319G>A	7.37:g.142459743G>A	ENSP00000308720:p.Asp107Asn					uc011krr.1_Intron|uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Missense_Mutation_p.D47N	p.D107N	NM_002769	NP_002760	P07477	TRY1_HUMAN	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		3	336	+	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	107			Peptidase S1.	Charge relay system.	A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP	ENST00000311737.7	37	c.319G>A	CCDS5872.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492379	0.64074	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243;ENST00000492062	D;D;D	0.98747	-5.11;-5.11;-3.36	3.28	3.28	0.37604	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.99199	0.9722	M	0.91872	3.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98886	1.0771	10	0.87932	D	0	.	14.0086	0.64481	0.0:0.0:1.0:0.0	.	121;107	E7EQ64;P07477	.;TRY1_HUMAN	N	121;107;97;57	ENSP00000417854:D121N;ENSP00000308720:D107N;ENSP00000419912:D57N	ENSP00000308720:D107N	D	+	1	0	PRSS1	142139317	1.000000	0.71417	0.999000	0.59377	0.175000	0.22909	9.680000	0.98651	1.789000	0.52484	0.398000	0.26397	GAC		0.552	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			11	165	0	0	0	0	11	165				
OR2F1	26211	broad.mit.edu	37	7	143657597	143657597	+	Silent	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:143657597C>T	ENST00000392899.1	+	1	571	c.534C>T	c.(532-534)tcC>tcT	p.S178S	RP4-669B10.3_ENST00000466281.1_lincRNA	NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	178					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					ATCACATATCCTGTGAACTCC	0.498																																						uc003wds.1		NA																	0				skin(2)|ovary(1)	3						c.(532-534)TCC>TCT		olfactory receptor, family 2, subfamily F,							168.0	148.0	155.0					7																	143657597		2203	4300	6503	SO:0001819	synonymous_variant	26211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143657597C>T	U56421	CCDS5887.1	7q35	2013-06-03	2013-06-03		ENSG00000213215	ENSG00000213215		"""GPCR / Class A : Olfactory receptors"""	8246	protein-coding gene	gene with protein product		608497	"""olfactory receptor, family 2, subfamily F, member 1"""	OR2F4, OR2F5, OR2F3, OR2F3P		9500546	Standard	NM_012369		Approved	OLF3, OR7-140, OR7-139, OR14-60	uc003wds.1	Q13607	OTTHUMG00000157771	ENST00000392899.1:c.534C>T	7.37:g.143657597C>T							p.S178S	NM_012369	NP_036501	Q13607	OR2F1_HUMAN			1	578	+	Melanoma(164;0.0903)		178			Extracellular (Potential).		A4D2G1|Q6IFP7|Q96R49|Q9UDX1	Silent	SNP	ENST00000392899.1	37	c.534C>T	CCDS5887.1																																																																																				0.498	OR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349581.1			36	56	0	0	0	0	36	56				
ZNF425	155054	broad.mit.edu	37	7	148800930	148800930	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:148800930C>T	ENST00000378061.2	-	4	2165	c.2033G>A	c.(2032-2034)aGg>aAg	p.R678K		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	678					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CAAGCTGCCCCTGATGCAGTA	0.547																																						uc003wfj.2		NA																	0				breast(2)|ovary(1)	3						c.(2032-2034)AGG>AAG		zinc finger protein 425							106.0	101.0	103.0					7																	148800930		2203	4300	6503	SO:0001583	missense	155054				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr7:148800930C>T	AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.2033G>A	7.37:g.148800930C>T	ENSP00000367300:p.Arg678Lys						p.R678K	NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	2106	-	Melanoma(164;0.15)		678			C2H2-type 17.		B3KPM1|Q08AG3	Missense_Mutation	SNP	ENST00000378061.2	37	c.2033G>A	CCDS34773.1	.	.	.	.	.	.	.	.	.	.	C	1.392	-0.580387	0.03854	.	.	ENSG00000204947	ENST00000378061	T	0.13901	2.55	2.87	-1.39	0.08997	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03959	0.0111	N	0.03029	-0.43	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.44787	-0.9305	9	0.11182	T	0.66	.	3.764	0.08615	0.0:0.2933:0.2039:0.5028	.	678	Q6IV72	ZN425_HUMAN	K	678	ENSP00000367300:R678K	ENSP00000367300:R678K	R	-	2	0	ZNF425	148431863	0.000000	0.05858	0.000000	0.03702	0.920000	0.55202	-1.276000	0.02815	-0.211000	0.10124	0.655000	0.94253	AGG		0.547	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140		56	95	0	0	0	0	56	95				
GIMAP8	155038	broad.mit.edu	37	7	150164299	150164299	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:150164299G>A	ENST00000307271.3	+	2	1087	c.513G>A	c.(511-513)aaG>aaA	p.K171K		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	171	AIG1-type G 1.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TCAACAACAAGACCAATAGTA	0.443																																						uc003whj.2		NA																	0				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(511-513)AAG>AAA		GTPase, IMAP family member 8							130.0	122.0	125.0					7																	150164299		2203	4300	6503	SO:0001819	synonymous_variant	155038					endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	g.chr7:150164299G>A	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.513G>A	7.37:g.150164299G>A							p.K171K	NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)	2	843	+			171						Silent	SNP	ENST00000307271.3	37	c.513G>A	CCDS34777.1																																																																																				0.443	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571		8	142	0	0	0	0	8	142				
AGAP3	116988	broad.mit.edu	37	7	150784095	150784095	+	Silent	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:150784095G>T	ENST00000397238.2	+	1	267	c.267G>T	c.(265-267)ctG>ctT	p.L89L	AGAP3_ENST00000463381.1_Intron|AGAP3_ENST00000473312.1_Silent_p.L89L|AGAP3_ENST00000479901.1_Silent_p.L89L	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	53	Small GTPase-like.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						TCTACGACCTGATCGAGCGCA	0.667																																						uc003wjg.1		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(265-267)CTG>CTT		centaurin, gamma 3 isoform a							29.0	34.0	33.0					7																	150784095		2190	4299	6489	SO:0001819	synonymous_variant	116988				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	g.chr7:150784095G>T	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000397238.2:c.267G>T	7.37:g.150784095G>T						AGAP3_uc003wje.1_Intron|AGAP3_uc003wjf.1_Silent_p.L89L|AGAP3_uc010lpy.1_Silent_p.L89L	p.L89L	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN			1	270	+			53					B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Silent	SNP	ENST00000397238.2	37	c.267G>T	CCDS43681.1																																																																																				0.667	AGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351908.3	NM_031946		7	12	1	0	1.77e-08	2.18e-08	7	12				
KMT2C	58508	broad.mit.edu	37	7	151877135	151877135	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:151877135T>C	ENST00000262189.6	-	37	7444	c.7226A>G	c.(7225-7227)cAg>cGg	p.Q2409R	KMT2C_ENST00000355193.2_Missense_Mutation_p.Q2409R	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2409					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GGGTGAGTCCTGTGACCCCTT	0.517																																						uc003wla.2		NA								N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(7225-7227)CAG>CGG		myeloid/lymphoid or mixed-lineage leukemia 3							256.0	222.0	233.0					7																	151877135		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151877135T>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.7226A>G	7.37:g.151877135T>C	ENSP00000262189:p.Gln2409Arg					MLL3_uc003wkz.2_Missense_Mutation_p.Q1470R|MLL3_uc003wky.2_5'Flank	p.Q2409R	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	37	7445	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	2409					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.7226A>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	T	12.02	1.812082	0.32053	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.84589	-1.86;-1.87	5.5	4.21	0.49690	.	0.000000	0.44285	D	0.000471	T	0.82144	0.4973	M	0.69823	2.125	0.80722	D	1	B;B	0.18461	0.016;0.028	B;B	0.22152	0.006;0.038	T	0.76812	-0.2821	10	0.52906	T	0.07	.	6.3178	0.21200	0.1372:0.0802:0.0:0.7826	.	2409;1470	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	R	2409	ENSP00000262189:Q2409R;ENSP00000347325:Q2409R	ENSP00000262189:Q2409R	Q	-	2	0	MLL3	151508068	1.000000	0.71417	0.439000	0.26833	0.941000	0.58515	1.681000	0.37618	0.795000	0.33922	0.528000	0.53228	CAG		0.517	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			99	190	0	0	0	0	99	190				
DLGAP2	9228	broad.mit.edu	37	8	1497720	1497720	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:1497720G>A	ENST00000421627.2	+	2	995	c.861G>A	c.(859-861)aaG>aaA	p.K287K		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	366					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		AGTACCTGAAGCGCAGCTCCT	0.642																																						uc003wpl.2		NA																	0					0						c.(859-861)AAG>AAA		discs large-associated protein 2							21.0	25.0	24.0					8																	1497720		2183	4274	6457	SO:0001819	synonymous_variant	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1497720G>A	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.861G>A	8.37:g.1497720G>A						DLGAP2_uc003wpm.2_Silent_p.K287K	p.K287K	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	2	958	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	366					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Silent	SNP	ENST00000421627.2	37	c.861G>A	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.254097	0.22965	.	.	ENSG00000198010	ENST00000520901	.	.	.	5.3	2.13	0.27403	.	.	.	.	.	T	0.54549	0.1865	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42582	-0.9443	4	.	.	.	-16.7184	6.9636	0.24611	0.7311:0.0:0.2689:0.0	.	.	.	.	N	304	.	.	S	+	2	0	DLGAP2	1485127	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.472000	0.35376	0.133000	0.18654	0.655000	0.94253	AGC		0.642	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		11	40	0	0	0	0	11	40				
CSMD1	64478	broad.mit.edu	37	8	3226842	3226842	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:3226842C>A	ENST00000520002.1	-	20	3391	c.2836G>T	c.(2836-2838)Ggg>Tgg	p.G946W	CSMD1_ENST00000537824.1_Missense_Mutation_p.G945W|CSMD1_ENST00000602557.1_Missense_Mutation_p.G946W|CSMD1_ENST00000542608.1_Missense_Mutation_p.G945W|CSMD1_ENST00000539096.1_Missense_Mutation_p.G945W|CSMD1_ENST00000602723.1_Missense_Mutation_p.G946W|CSMD1_ENST00000400186.3_Missense_Mutation_p.G946W			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	946	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCTGGAAACCCAGGAGAAAGG	0.393																																						uc011kwk.1		NA																	0				breast(20)|large_intestine(5)	25						c.(2836-2838)GGG>TGG		CUB and Sushi multiple domains 1 precursor							73.0	69.0	70.0					8																	3226842		1841	4082	5923	SO:0001583	missense	64478					integral to membrane		g.chr8:3226842C>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.2836G>T	8.37:g.3226842C>A	ENSP00000430733:p.Gly946Trp					CSMD1_uc011kwj.1_Missense_Mutation_p.G338W|CSMD1_uc003wqe.2_Missense_Mutation_p.G102W	p.G946W	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	19	3226	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	946			Extracellular (Potential).|CUB 6.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.2836G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.1|21.1	4.092925|4.092925	0.76756|0.76756	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.33865|.	1.39;1.39;1.39;1.39;1.39|.	5.2|5.2	5.2|5.2	0.72013|0.72013	CUB (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86514|0.86514	0.5951|0.5951	M|M	0.92367|0.92367	3.3|3.3	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;0.999|.	D|D	0.89772|0.89772	0.3955|0.3955	10|5	0.87932|.	D|.	0|.	.|.	18.7526|18.7526	0.91821|0.91821	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	946;946;946|.	E5RIG2;Q96PZ7;Q96PZ7-4|.	.;CSMD1_HUMAN;.|.	W|L	946;946;808;945;945;945|425	ENSP00000383047:G946W;ENSP00000430733:G946W;ENSP00000441462:G945W;ENSP00000446243:G945W;ENSP00000441675:G945W|.	ENSP00000320445:G808W|.	G|W	-|-	1|2	0|0	CSMD1|CSMD1	3214249|3214249	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.579000|0.579000	0.36224|0.36224	7.585000|7.585000	0.82584|0.82584	2.405000|2.405000	0.81733|0.81733	0.557000|0.557000	0.71058|0.71058	GGG|TGG		0.393	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		17	14	1	0	6.94e-10	8.8e-10	17	14				
XKR6	286046	broad.mit.edu	37	8	10782284	10782284	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:10782284C>T	ENST00000416569.2	-	2	847	c.821G>A	c.(820-822)cGa>cAa	p.R274Q	XKR6_ENST00000304437.2_5'UTR	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	274						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		GTAGAAGCGTCGCTGGTGTTC	0.582																																						uc003wtk.1		NA																	0				ovary(1)|skin(1)	2						c.(820-822)CGA>CAA		XK, Kell blood group complex subunit-related							117.0	102.0	107.0					8																	10782284		2203	4300	6503	SO:0001583	missense	286046					integral to membrane		g.chr8:10782284C>T	BC024146	CCDS5978.2	8p23.1	2009-05-27	2006-01-12	2005-07-28	ENSG00000171044	ENSG00000171044			27806	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 7"", ""chromosome 8 open reading frame 21"", ""X Kell blood group precursor-related family, member 6"", ""chromosome 8 open reading frame 5"""	C8orf7, C8orf21, C8orf5			Standard	NM_173683		Approved		uc003wtk.1	Q5GH73	OTTHUMG00000129351	ENST00000416569.2:c.821G>A	8.37:g.10782284C>T	ENSP00000416707:p.Arg274Gln						p.R274Q	NM_173683	NP_775954	Q5GH73	XKR6_HUMAN		Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)	2	848	-			274					Q8TBA0	Missense_Mutation	SNP	ENST00000416569.2	37	c.821G>A	CCDS5978.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	26.4|26.4	4.737158|4.737158	0.89482|0.89482	.|.	.|.	ENSG00000171044|ENSG00000171044	ENST00000382461|ENST00000416569	.|T	.|0.62941	.|-0.01	4.71|4.71	4.71|4.71	0.59529|0.59529	.|.	.|0.000000	.|0.64402	.|U	.|0.000007	T|T	0.73613|0.73613	0.3609|0.3609	L|L	0.58925|0.58925	1.835|1.835	0.80722|0.80722	D|D	1|1	.|D	.|0.71674	.|0.998	.|D	.|0.62955	.|0.909	T|T	0.73927|0.73927	-0.3828|-0.3828	5|10	.|0.40728	.|T	.|0.16	-33.0399|-33.0399	16.6436|16.6436	0.85155|0.85155	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|274	.|Q5GH73	.|XKR6_HUMAN	N|Q	51|274	.|ENSP00000416707:R274Q	.|ENSP00000416707:R274Q	D|R	-|-	1|2	0|0	XKR6|XKR6	10819694|10819694	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.639000|7.639000	0.83342|0.83342	2.156000|2.156000	0.67533|0.67533	0.457000|0.457000	0.33378|0.33378	GAC|CGA		0.582	XKR6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383958.1	NM_173683		7	117	0	0	0	0	7	117				
SGCZ	137868	broad.mit.edu	37	8	13959908	13959909	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:13959908_13959909GG>TT	ENST00000382080.1	-	7	1435_1436	c.720_721CC>AA	c.(718-723)ctCCat>ctAAat	p.H241N	SGCZ_ENST00000421524.2_Missense_Mutation_p.H194N	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	228					membrane organization (GO:0061024)|muscle cell cellular homeostasis (GO:0046716)|muscle cell development (GO:0055001)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|sarcoglycan complex (GO:0016012)				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		GATTGCAGATGGAGCTCCTTCC	0.515																																						uc003wwq.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(718-723)CTCCAT>CTAAAT		sarcoglycan zeta																																				SO:0001583	missense	137868				cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma		g.chr8:13959908_13959909GG>TT	AY028700	CCDS5992.2	8p22	2014-09-17	2010-04-21		ENSG00000185053	ENSG00000185053			14075	protein-coding gene	gene with protein product		608113				12189167	Standard	XM_006716287		Approved	ZSG1	uc003wwq.3	Q96LD1	OTTHUMG00000090827	ENST00000382080.1:c.720_721delinsTT	8.37:g.13959908_13959909delinsTT	ENSP00000371512:p.His241Asn					SGCZ_uc010lss.2_Missense_Mutation_p.H194N	p.H241N	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN		all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)	7	1380_1381	-			228			Extracellular (Potential).		Q6REU0	Missense_Mutation	DNP	ENST00000382080.1	37	c.720_721CC>AA	CCDS5992.2																																																																																				0.515	SGCZ-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207636.2	NM_139167		24	63	0	0	0	0	24	63				
LOXL2	4017	broad.mit.edu	37	8	23243466	23243466	+	Intron	SNP	T	T	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:23243466T>G	ENST00000389131.3	-	2	287				ENTPD4_ENST00000356206.6_Missense_Mutation_p.H564P	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2						aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		acattgcaagtgtttggtggc	0.448																																						uc011kzu.1		NA																	0				ovary(1)|kidney(1)	2						c.(1690-1692)CAC>CCC		ectonucleoside triphosphate diphosphohydrolase 4							112.0	102.0	105.0					8																	23243466		876	1991	2867	SO:0001627	intron_variant	9583				UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity	g.chr8:23243466T>G	U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.83-17519A>C	8.37:g.23243466T>G						LOXL2_uc003xdh.1_Intron	p.H564P	NM_001128930	NP_001122402	Q9Y227	ENTP4_HUMAN		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)	13	1963	-		Prostate(55;0.114)	Error:Variant_position_missing_in_Q9Y227_after_alignment					B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Missense_Mutation	SNP	ENST00000389131.3	37	c.1691A>C	CCDS34864.1	.	.	.	.	.	.	.	.	.	.	T	9.607	1.130319	0.21041	.	.	ENSG00000197217	ENST00000518471;ENST00000356206	T;T	0.36340	1.26;2.5	1.17	-0.0312	0.13910	.	.	.	.	.	T	0.16342	0.0393	.	.	.	0.09310	N	1	P	0.42993	0.797	B	0.25884	0.064	T	0.15435	-1.0437	8	0.54805	T	0.06	.	3.0738	0.06240	0.0:0.274:0.0:0.726	.	564	Q8NE73	.	P	207;564	ENSP00000430579:H207P;ENSP00000348536:H564P	ENSP00000348536:H564P	H	-	2	0	ENTPD4	23299411	0.001000	0.12720	0.001000	0.08648	0.005000	0.04900	-0.229000	0.09098	-0.009000	0.14296	-0.379000	0.06801	CAC		0.448	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1			35	92	0	0	0	0	35	92				
ADRA1A	148	broad.mit.edu	37	8	26721992	26721992	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:26721992C>G	ENST00000519229.1	-	1	501	c.495G>C	c.(493-495)tgG>tgC	p.W165C	ADRA1A_ENST00000276393.4_Missense_Mutation_p.W165C|ADRA1A_ENST00000380582.3_Missense_Mutation_p.W165C|ADRA1A_ENST00000380587.1_Missense_Mutation_p.W165C|ADRA1A_ENST00000380573.3_Missense_Mutation_p.W165C|ADRA1A_ENST00000380581.2_Missense_Mutation_p.W165C|ADRA1A_ENST00000380586.1_Missense_Mutation_p.W165C|ADRA1A_ENST00000354550.4_Missense_Mutation_p.W165C|ADRA1A_ENST00000358857.5_Missense_Mutation_p.W165C|ADRA1A_ENST00000380572.3_Missense_Mutation_p.W165C			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	235					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	CCGGCTGCCTCCAGCCGAACA	0.637																																						uc003xfh.1		NA																	0				breast(2)|ovary(1)|lung(1)|skin(1)	5						c.(493-495)TGG>TGC		alpha-1A-adrenergic receptor isoform 1	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)						38.0	42.0	41.0					8																	26721992		2203	4300	6503	SO:0001583	missense	148				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr8:26721992C>G	L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"""GPCR / Class A : Adrenoceptors : alpha"""	277	protein-coding gene	gene with protein product		104221	"""adrenergic, alpha-1A-, receptor"""	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000519229.1:c.495G>C	8.37:g.26721992C>G	ENSP00000430793:p.Trp165Cys					ADRA1A_uc003xfc.1_Missense_Mutation_p.W165C|ADRA1A_uc010lul.1_Missense_Mutation_p.W165C|ADRA1A_uc003xfd.1_RNA|ADRA1A_uc003xfe.1_Missense_Mutation_p.W165C|ADRA1A_uc010lum.1_Missense_Mutation_p.W165C|ADRA1A_uc003xff.1_RNA|ADRA1A_uc003xfg.1_Missense_Mutation_p.W165C	p.W165C	NM_000680	NP_000671	P35348	ADA1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	1	931	-		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)	165			Helical; Name=4; (By similarity).		Q9NPY0	Missense_Mutation	SNP	ENST00000519229.1	37	c.495G>C		.	.	.	.	.	.	.	.	.	.	C	20.8	4.043215	0.75732	.	.	ENSG00000120907	ENST00000380586;ENST00000380587;ENST00000380582;ENST00000380581;ENST00000519229;ENST00000354550;ENST00000276393;ENST00000380573;ENST00000380572;ENST00000358857	T;T;T;T;T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08;1.08;1.08;1.08;1.08	5.35	5.35	0.76521	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.75583	0.3869	H	0.94886	3.595	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.999;1.0	T	0.82839	-0.0259	10	0.87932	D	0	.	19.0381	0.92987	0.0:1.0:0.0:0.0	.	165;165;165;165;165;165	P35348-9;P35348-8;P35348;P35348-4;P35348-3;B0ZBD3	.;.;ADA1A_HUMAN;.;.;.	C	165	ENSP00000369960:W165C;ENSP00000369961:W165C;ENSP00000369956:W165C;ENSP00000369955:W165C;ENSP00000430793:W165C;ENSP00000346557:W165C;ENSP00000276393:W165C;ENSP00000369947:W165C;ENSP00000369946:W165C;ENSP00000351725:W165C	ENSP00000276393:W165C	W	-	3	0	ADRA1A	26777909	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.776000	0.85560	2.646000	0.89796	0.558000	0.71614	TGG		0.637	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000376207.1	NM_033303		30	32	0	0	0	0	30	32				
KIF13B	23303	broad.mit.edu	37	8	29037627	29037627	+	Silent	SNP	C	C	T	rs371861202	byFrequency	TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:29037627C>T	ENST00000524189.1	-	8	752	c.714G>A	c.(712-714)aaG>aaA	p.K238K	KIF13B_ENST00000521515.1_Silent_p.K238K	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	238	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CTACCCCAGACTTCACATCGT	0.408													C|||	14	0.00279553	0.0	0.0	5008	,	,		21966	0.0		0.0	False		,,,				2504	0.0143					uc003xhh.3		NA																	0					0						c.(712-714)AAG>AAA		kinesin family member 13B							180.0	174.0	176.0					8																	29037627		1903	4115	6018	SO:0001819	synonymous_variant	23303				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	g.chr8:29037627C>T	AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.714G>A	8.37:g.29037627C>T						KIF13B_uc003xhj.2_Silent_p.K135K|KIF13B_uc010lvf.1_Silent_p.K174K	p.K238K	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)	8	773	-		Ovarian(32;0.000536)	238			Kinesin-motor.		B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Silent	SNP	ENST00000524189.1	37	c.714G>A	CCDS55217.1																																																																																				0.408	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			52	135	0	0	0	0	52	135				
ST18	9705	broad.mit.edu	37	8	53025853	53025853	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:53025853T>G	ENST00000276480.7	-	26	3732	c.3049A>C	c.(3049-3051)Aca>Cca	p.T1017P		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	1017					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TACATATCTGTGAGTGTATTT	0.433																																						uc003xqz.2		NA																	0				ovary(4)|skin(1)	5						c.(3049-3051)ACA>CCA		suppression of tumorigenicity 18							153.0	133.0	140.0					8																	53025853		2203	4300	6503	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53025853T>G	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.3049A>C	8.37:g.53025853T>G	ENSP00000276480:p.Thr1017Pro					ST18_uc011ldq.1_Missense_Mutation_p.T664P|ST18_uc011ldr.1_Missense_Mutation_p.T982P|ST18_uc011lds.1_Missense_Mutation_p.T922P|ST18_uc003xra.2_Missense_Mutation_p.T1017P	p.T1017P	NM_014682	NP_055497	O60284	ST18_HUMAN			21	3205	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	1017					Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.3049A>C	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	T	29.4	5.006610	0.93287	.	.	ENSG00000147488	ENST00000276480	T	0.54675	0.56	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.71736	0.3375	M	0.69358	2.11	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74500	-0.3645	10	0.87932	D	0	-19.1872	16.4416	0.83903	0.0:0.0:0.0:1.0	.	1017	O60284	ST18_HUMAN	P	1017	ENSP00000276480:T1017P	ENSP00000276480:T1017P	T	-	1	0	ST18	53188406	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.285000	0.76669	0.477000	0.44152	ACA		0.433	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			31	88	0	0	0	0	31	88				
RP1	6101	broad.mit.edu	37	8	55540739	55540739	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:55540739G>T	ENST00000220676.1	+	4	4445	c.4297G>T	c.(4297-4299)Gca>Tca	p.A1433S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1433					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)			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)			GGATGAAAATGCATATACTTC	0.363																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1		NA																	0				skin(7)|ovary(4)|pancreas(1)	12						c.(4297-4299)GCA>TCA		retinitis pigmentosa RP1 protein							56.0	59.0	58.0					8																	55540739		2203	4298	6501	SO:0001583	missense	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.chr8:55540739G>T	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.4297G>T	8.37:g.55540739G>T	ENSP00000220676:p.Ala1433Ser					RP1_uc011ldy.1_Intron	p.A1433S	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)		4	4445	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1433						Missense_Mutation	SNP	ENST00000220676.1	37	c.4297G>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.311347	0.23821	.	.	ENSG00000104237	ENST00000220676	T	0.21031	2.03	5.27	-2.81	0.05805	.	1.521850	0.03814	N	0.266439	T	0.15392	0.0371	L	0.27053	0.805	0.09310	N	1	B	0.26318	0.146	B	0.24974	0.057	T	0.39251	-0.9623	10	0.72032	D	0.01	1.0519	7.4971	0.27496	0.7146:0.0:0.146:0.1395	.	1433	P56715	RP1_HUMAN	S	1433	ENSP00000220676:A1433S	ENSP00000220676:A1433S	A	+	1	0	RP1	55703292	0.000000	0.05858	0.000000	0.03702	0.749000	0.42624	0.588000	0.23924	-0.419000	0.07439	0.655000	0.94253	GCA		0.363	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		26	72	1	0	1.43e-11	1.86e-11	26	72				
LYN	4067	broad.mit.edu	37	8	56879420	56879420	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:56879420G>T	ENST00000519728.1	+	9	1233	c.937G>T	c.(937-939)Gag>Tag	p.E313*	LYN_ENST00000520220.2_Nonsense_Mutation_p.E292*|LYN_ENST00000420292.1_3'UTR	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	313	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	CACCAGGGAGGAGCCCATTTA	0.512																																						uc003xsk.3		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(937-939)GAG>TAG		Yamaguchi sarcoma viral (v-yes-1) oncogene							90.0	79.0	83.0					8																	56879420		2203	4300	6503	SO:0001587	stop_gained	4067				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity	g.chr8:56879420G>T	M16038	CCDS6162.1, CCDS47859.1	8q13	2014-06-25	2014-06-25		ENSG00000254087	ENSG00000254087		"""SH2 domain containing"""	6735	protein-coding gene	gene with protein product		165120	"""v-yes-1 Yamaguchi sarcoma viral related oncogene homolog"""			3561390	Standard	NM_002350		Approved	JTK8	uc003xsk.4	P07948	OTTHUMG00000044345	ENST00000519728.1:c.937G>T	8.37:g.56879420G>T	ENSP00000428924:p.Glu313*					LYN_uc003xsl.3_Nonsense_Mutation_p.E292*	p.E313*	NM_002350	NP_002341	P07948	LYN_HUMAN	Epithelial(17;0.000834)|all cancers(17;0.00598)		9	1219	+		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	313			Protein kinase.		A0AVQ5	Nonsense_Mutation	SNP	ENST00000519728.1	37	c.937G>T	CCDS6162.1	.	.	.	.	.	.	.	.	.	.	G	41	9.040909	0.99046	.	.	ENSG00000254087	ENST00000519728;ENST00000520220	.	.	.	5.72	5.72	0.89469	.	0.198320	0.52532	D	0.000076	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.8663	0.96804	0.0:0.0:1.0:0.0	.	.	.	.	X	313;292	.	ENSP00000428924:E313X	E	+	1	0	LYN	57041974	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.907000	0.87430	2.700000	0.92200	0.591000	0.81541	GAG		0.512	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378155.1	NM_002350		15	57	1	0	1.57e-10	2.02e-10	15	57				
NSMAF	8439	broad.mit.edu	37	8	59514633	59514633	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:59514633C>A	ENST00000038176.3	-	14	1321	c.1109G>T	c.(1108-1110)cGg>cTg	p.R370L	NSMAF_ENST00000427130.2_Missense_Mutation_p.R401L|NSMAF_ENST00000519858.1_5'UTR	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	370	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TCTCTCCAGCCGTTCCTTATT	0.413																																						uc003xtt.2		NA																	0				ovary(1)	1						c.(1108-1110)CGG>CTG		neutral sphingomyelinase (N-SMase) activation							110.0	112.0	112.0					8																	59514633		2203	4300	6503	SO:0001583	missense	8439				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity	g.chr8:59514633C>A	X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"""WD repeat domain containing"""	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.1109G>T	8.37:g.59514633C>A	ENSP00000038176:p.Arg370Leu					NSMAF_uc011lee.1_Missense_Mutation_p.R401L|NSMAF_uc003xtu.2_Missense_Mutation_p.R370L	p.R370L	NM_003580	NP_003571	Q92636	FAN_HUMAN			14	1323	-		all_lung(136;0.174)|Lung NSC(129;0.2)	370			BEACH.		B4DFB0|E9PCH0|Q8IW26	Missense_Mutation	SNP	ENST00000038176.3	37	c.1109G>T	CCDS6173.1	.	.	.	.	.	.	.	.	.	.	C	34	5.328180	0.95733	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	D;D	0.83335	-1.71;-1.71	5.96	5.96	0.96718	BEACH domain (4);	0.000000	0.85682	D	0.000000	D	0.94198	0.8138	H	0.94345	3.525	0.52501	D	0.999954	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.94873	0.8032	9	.	.	.	.	20.4082	0.99013	0.0:1.0:0.0:0.0	.	401;370;370	Q92636-2;A8K9G4;Q92636	.;.;FAN_HUMAN	L	370;401	ENSP00000038176:R370L;ENSP00000411012:R401L	.	R	-	2	0	NSMAF	59677187	1.000000	0.71417	0.356000	0.25785	0.906000	0.53458	7.513000	0.81739	2.814000	0.96858	0.655000	0.94253	CGG		0.413	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1	NM_003580		39	112	1	0	1.75e-18	2.47e-18	39	112				
NSMAF	8439	broad.mit.edu	37	8	59548030	59548030	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:59548030G>C	ENST00000038176.3	-	3	437	c.225C>G	c.(223-225)atC>atG	p.I75M	NSMAF_ENST00000427130.2_Missense_Mutation_p.I106M	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	75					ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TATTTACCTTGATGATGGGCT	0.308																																						uc003xtt.2		NA																	0				ovary(1)	1						c.(223-225)ATC>ATG		neutral sphingomyelinase (N-SMase) activation							91.0	102.0	98.0					8																	59548030		2203	4300	6503	SO:0001583	missense	8439				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity	g.chr8:59548030G>C	X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"""WD repeat domain containing"""	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.225C>G	8.37:g.59548030G>C	ENSP00000038176:p.Ile75Met					NSMAF_uc011lee.1_Missense_Mutation_p.I106M|NSMAF_uc003xtu.2_Missense_Mutation_p.I75M	p.I75M	NM_003580	NP_003571	Q92636	FAN_HUMAN			3	439	-		all_lung(136;0.174)|Lung NSC(129;0.2)	75					B4DFB0|E9PCH0|Q8IW26	Missense_Mutation	SNP	ENST00000038176.3	37	c.225C>G	CCDS6173.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.391614	0.25118	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	T;T	0.55052	0.56;0.54	5.61	3.19	0.36642	.	0.357765	0.32687	N	0.005763	T	0.46014	0.1371	M	0.71581	2.175	0.31537	N	0.660449	B;B;B	0.16396	0.017;0.001;0.001	B;B;B	0.17722	0.019;0.001;0.003	T	0.46582	-0.9181	9	.	.	.	.	4.9311	0.13917	0.6654:0.158:0.1766:0.0	.	106;75;75	Q92636-2;A8K9G4;Q92636	.;.;FAN_HUMAN	M	75;106	ENSP00000038176:I75M;ENSP00000411012:I106M	.	I	-	3	3	NSMAF	59710584	0.999000	0.42202	1.000000	0.80357	0.947000	0.59692	0.524000	0.22940	0.392000	0.25172	-0.482000	0.04802	ATC		0.308	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1	NM_003580		12	227	0	0	0	0	12	227				
ASPH	444	broad.mit.edu	37	8	62415961	62415961	+	Missense_Mutation	SNP	G	G	A	rs568263471		TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:62415961G>A	ENST00000379454.4	-	25	2421	c.2234C>T	c.(2233-2235)cCg>cTg	p.P745L	ASPH_ENST00000541428.1_Missense_Mutation_p.P716L	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	745					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	TGTCAGTTCCGGATGCCACAC	0.512																																						uc003xuj.2		NA																	0				ovary(3)	3						c.(2233-2235)CCG>CTG		aspartate beta-hydroxylase isoform a	L-Aspartic Acid(DB00128)|Succinic acid(DB00139)						112.0	86.0	95.0					8																	62415961		2203	4300	6503	SO:0001583	missense	444				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle	g.chr8:62415961G>A	AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.2234C>T	8.37:g.62415961G>A	ENSP00000368767:p.Pro745Leu					ASPH_uc011leg.1_Missense_Mutation_p.P716L	p.P745L	NM_004318	NP_004309	Q12797	ASPH_HUMAN			25	2503	-	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)	745			Lumenal (Potential).		A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	ENST00000379454.4	37	c.2234C>T	CCDS34898.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.620498	0.87460	.	.	ENSG00000198363	ENST00000541428;ENST00000379454	T;T	0.54071	0.59;0.59	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.82495	0.5049	H	0.96142	3.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87638	0.2520	10	0.87932	D	0	-14.7643	19.6961	0.96026	0.0:0.0:1.0:0.0	.	716;745	F5H667;Q12797	.;ASPH_HUMAN	L	716;745	ENSP00000437864:P716L;ENSP00000368767:P745L	ENSP00000368767:P745L	P	-	2	0	ASPH	62578515	1.000000	0.71417	0.978000	0.43139	0.529000	0.34654	9.222000	0.95196	2.745000	0.94114	0.650000	0.86243	CCG		0.512	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318		4	51	0	0	0	0	4	51				
BHLHE22	27319	broad.mit.edu	37	8	65493499	65493499	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:65493499G>A	ENST00000321870.1	+	1	686	c.152G>A	c.(151-153)cGg>cAg	p.R51Q	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	51					anterior commissure morphogenesis (GO:0021960)|cerebral cortex regionalization (GO:0021796)|corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|retinal bipolar neuron differentiation (GO:0060040)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						CCGCCGCCTCGGGAACGCCCG	0.736																																					Colon(113;104 1586 2865 9855 18065)	uc003xvi.2		NA																	0					0						c.(151-153)CGG>CAG		basic helix-loop-helix domain containing, class							5.0	6.0	6.0					8																	65493499		1938	3897	5835	SO:0001583	missense	27319				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr8:65493499G>A	U80755	CCDS6179.1	8q12.1	2009-01-12	2009-01-12	2009-01-12		ENSG00000180828		"""Basic helix-loop-helix proteins"""	11963	protein-coding gene	gene with protein product		613483	"""trinucleotide repeat containing 20"", ""basic helix-loop-helix domain containing, class B, 5"""	TNRC20, BHLHB5		9225980, 12213201, 18557763	Standard	NM_152414		Approved	CAGL85, Beta3, bHLHe22	uc003xvi.3	Q8NFJ8		ENST00000321870.1:c.152G>A	8.37:g.65493499G>A	ENSP00000318799:p.Arg51Gln					LOC401463_uc003xvh.2_Intron	p.R51Q	NM_152414	NP_689627	Q8NFJ8	BHE22_HUMAN			1	686	+			51						Missense_Mutation	SNP	ENST00000321870.1	37	c.152G>A	CCDS6179.1	.	.	.	.	.	.	.	.	.	.	g	15.86	2.956609	0.53293	.	.	ENSG00000180828	ENST00000321870	D	0.97114	-4.25	3.16	3.16	0.36331	.	.	.	.	.	D	0.94135	0.8119	N	0.08118	0	0.38174	D	0.939403	D	0.76494	0.999	P	0.53722	0.733	D	0.94751	0.7927	9	0.45353	T	0.12	-12.7799	14.4567	0.67420	0.0:0.0:1.0:0.0	.	51	Q8NFJ8	BHE22_HUMAN	Q	51	ENSP00000318799:R51Q	ENSP00000318799:R51Q	R	+	2	0	BHLHE22	65656053	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.487000	0.53222	1.797000	0.52628	0.450000	0.29827	CGG		0.736	BHLHE22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378549.1	NM_152414		8	5	0	0	0	0	8	5				
ATP6V0D2	245972	broad.mit.edu	37	8	87126074	87126074	+	Silent	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:87126074C>A	ENST00000285393.3	+	2	409	c.267C>A	c.(265-267)tcC>tcA	p.S89S	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	89					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen ion transmembrane transporter activity (GO:0015078)			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						GGAATCATTCCCTGGAGCCCC	0.423																																						uc003ydp.1		NA																	0					0						c.(265-267)TCC>TCA		ATPase, H+ transporting, lysosomal 38kDa, V0							125.0	129.0	128.0					8																	87126074		2203	4300	6503	SO:0001819	synonymous_variant	245972				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding	g.chr8:87126074C>A	AY079172	CCDS6241.1	8q21.3	2014-01-28	2006-01-20	2002-05-24	ENSG00000147614	ENSG00000147614		"""ATPases / V-type"""	18266	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 38kD, V0 subunit d isoform 2"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 2"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D2"""			12384298	Standard	NM_152565		Approved	FLJ38708, VMA6, ATP6D2	uc003ydp.1	Q8N8Y2	OTTHUMG00000163637	ENST00000285393.3:c.267C>A	8.37:g.87126074C>A							p.S89S	NM_152565	NP_689778	Q8N8Y2	VA0D2_HUMAN			2	336	+			89						Silent	SNP	ENST00000285393.3	37	c.267C>A	CCDS6241.1																																																																																				0.423	ATP6V0D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374651.1	NM_152565		25	121	1	0	4.6e-10	5.84e-10	25	121				
MMP16	4325	broad.mit.edu	37	8	89128829	89128829	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:89128829G>A	ENST00000286614.6	-	6	1271	c.990C>T	c.(988-990)acC>acT	p.T330T	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	330					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	AGGGTCTGCCGGTTGGAGGCC	0.532																																						uc003yeb.3		NA																	0				upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						c.(988-990)ACC>ACT		matrix metalloproteinase 16 isoform 1							150.0	148.0	149.0					8																	89128829		2203	4300	6503	SO:0001819	synonymous_variant	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89128829G>A	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.990C>T	8.37:g.89128829G>A						MMP16_uc003yec.2_Silent_p.T330T	p.T330T	NM_005941	NP_005932	P51512	MMP16_HUMAN			6	1272	-			330			Extracellular (Potential).		B2RAN7|Q14824|Q52H48	Silent	SNP	ENST00000286614.6	37	c.990C>T	CCDS6246.1																																																																																				0.532	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		78	56	0	0	0	0	78	56				
RIPK2	8767	broad.mit.edu	37	8	90777691	90777691	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:90777691G>A	ENST00000220751.4	+	3	764	c.450G>A	c.(448-450)caG>caA	p.Q150Q	RIPK2_ENST00000540020.1_Silent_p.Q13Q	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	150	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|defense response to Gram-positive bacterium (GO:0050830)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immature T cell proliferation (GO:0033091)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|response to exogenous dsRNA (GO:0043330)|response to interleukin-1 (GO:0070555)|response to interleukin-12 (GO:0070671)|response to interleukin-18 (GO:0070673)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|LIM domain binding (GO:0030274)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			TGAAGACTCAGAATATCTTAT	0.313																																						uc003yee.2		NA																	0				ovary(2)	2						c.(448-450)CAG>CAA		receptor-interacting serine-threonine kinase 2							101.0	96.0	97.0					8																	90777691		2203	4300	6503	SO:0001819	synonymous_variant	8767				activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity	g.chr8:90777691G>A	AC004003	CCDS6247.1	8q21	2008-05-02			ENSG00000104312	ENSG00000104312			10020	protein-coding gene	gene with protein product		603455				9575181, 9705938	Standard	XM_005251092		Approved	RICK, RIP2, CARDIAK, CARD3	uc003yee.3	O43353	OTTHUMG00000163809	ENST00000220751.4:c.450G>A	8.37:g.90777691G>A						RIPK2_uc003yef.2_Silent_p.Q13Q	p.Q150Q	NM_003821	NP_003812	O43353	RIPK2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0474)		3	764	+			150			Protein kinase.		B7Z748|Q6UWF0	Silent	SNP	ENST00000220751.4	37	c.450G>A	CCDS6247.1																																																																																				0.313	RIPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375686.1			7	90	0	0	0	0	7	90				
CALB1	793	broad.mit.edu	37	8	91081386	91081386	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:91081386A>T	ENST00000265431.3	-	4	492	c.311T>A	c.(310-312)aTg>aAg	p.M104K	CALB1_ENST00000518457.1_Missense_Mutation_p.M47K	NM_004929.2	NP_004920.1	P05937	CALB1_HUMAN	calbindin 1, 28kDa	104	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to organic substance (GO:0071310)|cytosolic calcium ion homeostasis (GO:0051480)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|metanephric collecting duct development (GO:0072205)|metanephric connecting tubule development (GO:0072286)|metanephric distal convoluted tubule development (GO:0072221)|metanephric part of ureteric bud development (GO:0035502)|regulation of synaptic plasticity (GO:0048167)|retina layer formation (GO:0010842)|short-term memory (GO:0007614)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|vitamin D binding (GO:0005499)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TTATACCTTCATGAATTCCTC	0.378																																					Melanoma(46;573 1182 27367 39727 48386)	uc003yel.1		NA																	0				pancreas(1)	1						c.(310-312)ATG>AAG		calbindin 1							66.0	68.0	67.0					8																	91081386		2203	4300	6503	SO:0001583	missense	793					nucleus	calcium ion binding|vitamin D binding	g.chr8:91081386A>T		CCDS6251.1	8q21.3	2013-01-10	2002-08-29		ENSG00000104327	ENSG00000104327		"""EF-hand domain containing"""	1434	protein-coding gene	gene with protein product		114050		CALB			Standard	NM_004929		Approved		uc003yel.1	P05937	OTTHUMG00000134314	ENST00000265431.3:c.311T>A	8.37:g.91081386A>T	ENSP00000265431:p.Met104Lys					CALB1_uc011lge.1_Missense_Mutation_p.M47K	p.M104K	NM_004929	NP_004920	P05937	CALB1_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00953)		4	493	-			104			EF-hand 3.		B2R696|B7Z9J4	Missense_Mutation	SNP	ENST00000265431.3	37	c.311T>A	CCDS6251.1	.	.	.	.	.	.	.	.	.	.	A	19.73	3.881475	0.72294	.	.	ENSG00000104327	ENST00000265431;ENST00000518457;ENST00000523716;ENST00000520613	T;D;T;T	0.93659	-0.1;-3.26;1.14;0.28	5.81	5.81	0.92471	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.90376	0.6988	N	0.21545	0.675	0.80722	D	1	B	0.32010	0.351	B	0.39299	0.296	D	0.89556	0.3803	10	0.49607	T	0.09	-21.7777	16.1699	0.81801	1.0:0.0:0.0:0.0	.	104	P05937	CALB1_HUMAN	K	104;47;47;47	ENSP00000265431:M104K;ENSP00000429602:M47K;ENSP00000429246:M47K;ENSP00000430281:M47K	ENSP00000265431:M104K	M	-	2	0	CALB1	91150562	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.045000	0.89436	2.217000	0.71921	0.533000	0.62120	ATG		0.378	CALB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259338.2	NM_004929		8	57	0	0	0	0	8	57				
RUNX1T1	862	broad.mit.edu	37	8	93003956	93003956	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:93003956C>T	ENST00000523629.1	-	7	1356	c.902G>A	c.(901-903)cGt>cAt	p.R301H	RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R264H|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R274H|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R264H|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R312H|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R264H|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R274H|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R301H	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)	301					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)			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)			ATCATCCAAACGGTAATGCTG	0.552																																						uc003yfd.2		NA																	0				lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16						c.(901-903)CGT>CAT		acute myelogenous leukemia 1 translocation 1							233.0	188.0	203.0					8																	93003956		2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:93003956C>T	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.902G>A	8.37:g.93003956C>T	ENSP00000428543:p.Arg301His					RUNX1T1_uc003yfc.1_Missense_Mutation_p.R274H|RUNX1T1_uc003yfe.1_Missense_Mutation_p.R264H|RUNX1T1_uc010mao.2_Missense_Mutation_p.R274H|RUNX1T1_uc011lgi.1_Missense_Mutation_p.R312H|RUNX1T1_uc010man.1_5'UTR|RUNX1T1_uc003yfb.1_Missense_Mutation_p.R264H	p.R301H	NM_175634	NP_783552	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		6	986	-			301					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.902G>A	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	C	33	5.265554	0.95399	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.33438	1.41;1.42;1.41;1.42;1.42;1.42;1.41;1.42	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.58666	0.2138	M	0.75447	2.3	0.80722	D	1	D;D;D	0.76494	0.993;0.998;0.999	P;P;D	0.74023	0.749;0.869;0.982	T	0.51601	-0.8685	10	0.42905	T	0.14	-12.5821	20.4745	0.99168	0.0:1.0:0.0:0.0	.	312;301;274	E7EPN4;Q06455;Q06455-2	.;MTG8_HUMAN;.	H	301;274;301;264;264;264;312;274	ENSP00000428543:R301H;ENSP00000379520:R274H;ENSP00000265814:R301H;ENSP00000353504:R264H;ENSP00000390137:R264H;ENSP00000428742:R264H;ENSP00000402257:R312H;ENSP00000430728:R274H	ENSP00000265814:R301H	R	-	2	0	RUNX1T1	93073132	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.780000	0.68956	2.941000	0.99782	0.655000	0.94253	CGT		0.552	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		20	124	0	0	0	0	20	124				
RUNX1T1	862	broad.mit.edu	37	8	93027017	93027017	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:93027017G>A	ENST00000523629.1	-	4	712	c.258C>T	c.(256-258)gcC>gcT	p.A86A	RUNX1T1_ENST00000422361.2_Silent_p.A49A|RUNX1T1_ENST00000518844.1_Silent_p.A59A|RUNX1T1_ENST00000521553.1_Silent_p.A49A|RUNX1T1_ENST00000360348.2_Silent_p.A49A|RUNX1T1_ENST00000436581.2_Silent_p.A97A|RUNX1T1_ENST00000520724.1_Silent_p.A49A|RUNX1T1_ENST00000522163.1_5'Flank|RUNX1T1_ENST00000396218.1_Silent_p.A59A|RUNX1T1_ENST00000265814.3_Silent_p.A86A	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)	86					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)			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)			CGCCATTCAAGGCTGTAGGAG	0.512																																						uc003yfd.2		NA																	0				lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16						c.(256-258)GCC>GCT		acute myelogenous leukemia 1 translocation 1							48.0	52.0	50.0					8																	93027017		2203	4300	6503	SO:0001819	synonymous_variant	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:93027017G>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.258C>T	8.37:g.93027017G>A						RUNX1T1_uc003yfc.1_Silent_p.A59A|RUNX1T1_uc003yfe.1_Silent_p.A49A|RUNX1T1_uc010mao.2_Silent_p.A59A|RUNX1T1_uc011lgi.1_Silent_p.A97A|RUNX1T1_uc003yfh.1_Silent_p.A49A|RUNX1T1_uc003yfb.1_Silent_p.A49A|RUNX1T1_uc003yff.1_Silent_p.A49A|RUNX1T1_uc003yfg.1_Silent_p.A49A	p.A86A	NM_175634	NP_783552	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		3	342	-			86					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Silent	SNP	ENST00000523629.1	37	c.258C>T	CCDS6256.1																																																																																				0.512	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		8	51	0	0	0	0	8	51				
FAM135B	51059	broad.mit.edu	37	8	139149455	139149455	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:139149455C>G	ENST00000395297.1	-	19	4120	c.3950G>C	c.(3949-3951)cGt>cCt	p.R1317P		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1317										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGGCACATAACGGTCTTGGGG	0.413										HNSCC(54;0.14)																												uc003yuy.2		NA																	0				ovary(7)|skin(2)	9						c.(3949-3951)CGT>CCT		hypothetical protein LOC51059							158.0	156.0	156.0					8																	139149455		1881	4110	5991	SO:0001583	missense	51059							g.chr8:139149455C>G	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3950G>C	8.37:g.139149455C>G	ENSP00000378710:p.Arg1317Pro	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.R1218P|FAM135B_uc003yuz.2_RNA	p.R1317P	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		19	4121	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1317					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.3950G>C	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	29.9	5.046112	0.93740	.	.	ENSG00000147724	ENST00000395297	T	0.47528	0.84	5.92	5.92	0.95590	Domain of unknown function DUF676, lipase-like (1);	0.000000	0.85682	D	0.000000	T	0.75591	0.3870	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79220	-0.1893	10	0.87932	D	0	-21.5945	19.3054	0.94161	0.0:1.0:0.0:0.0	.	1317	Q49AJ0	F135B_HUMAN	P	1317	ENSP00000378710:R1317P	ENSP00000378710:R1317P	R	-	2	0	FAM135B	139218637	1.000000	0.71417	0.994000	0.49952	0.938000	0.57974	7.755000	0.85180	2.801000	0.96364	0.650000	0.86243	CGT		0.413	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		24	117	0	0	0	0	24	117				
COL22A1	169044	broad.mit.edu	37	8	139603718	139603718	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:139603718C>T	ENST00000303045.6	-	64	5088	c.4642G>A	c.(4642-4644)Ggt>Agt	p.G1548S	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.G1528S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1548	Collagen-like 15.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCAGGTGCACCTGGGTCACCT	0.602										HNSCC(7;0.00092)																												uc003yvd.2		NA																	0				ovary(11)|pancreas(1)|skin(1)	13						c.(4642-4644)GGT>AGT		collagen, type XXII, alpha 1							64.0	58.0	60.0					8																	139603718		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139603718C>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4642G>A	8.37:g.139603718C>T	ENSP00000303153:p.Gly1548Ser	HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Missense_Mutation_p.G828S	p.G1548S	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		64	5089	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1548			Pro-rich.|Gly-rich.|Collagen-like 15.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.4642G>A	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.386703	0.82902	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.99418	-5.87;-5.87	5.3	5.3	0.74995	.	0.000000	0.50627	D	0.000105	D	0.99677	0.9879	H	0.95004	3.61	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97766	1.0223	10	0.66056	D	0.02	.	18.1124	0.89540	0.0:1.0:0.0:0.0	.	1528;1548	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	S	1548;1528;1241	ENSP00000303153:G1548S;ENSP00000387655:G1528S	ENSP00000303153:G1548S	G	-	1	0	COL22A1	139672900	1.000000	0.71417	0.669000	0.29828	0.987000	0.75469	6.001000	0.70685	2.756000	0.94617	0.563000	0.77884	GGT		0.602	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		3	19	0	0	0	0	3	19				
MROH5	389690	broad.mit.edu	37	8	142486153	142486153	+	RNA	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:142486153C>G	ENST00000430863.1	-	0	1620					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5																		GTGTGCTTCTCCAGGGCATCC	0.642																																						uc003ywi.2		NA																	0					0						c.(1540-1542)GAG>CAG		hypothetical protein LOC389690							19.0	26.0	24.0					8																	142486153		2027	4184	6211			389690						binding	g.chr8:142486153C>G			8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"""maestro heat-like repeat containing"""	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142486153C>G						FLJ43860_uc011ljs.1_Intron|FLJ43860_uc010meu.1_Intron	p.E514Q	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		13	1621	-	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		514						Missense_Mutation	SNP	ENST00000430863.1	37	c.1540G>C																																																																																					0.642	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4	NM_207414		6	19	0	0	0	0	6	19				
RPL8	6132	broad.mit.edu	37	8	146017246	146017246	+	Silent	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:146017246C>A	ENST00000262584.3	-	3	424	c.192G>T	c.(190-192)cgG>cgT	p.R64R	RPL8_ENST00000527914.1_Intron|RPL8_ENST00000394920.2_Silent_p.R64R|RPL8_ENST00000528957.1_Silent_p.R64R|RPL8_ENST00000529163.1_Intron	NM_000973.3	NP_000964.1	P62917	RL8_HUMAN	ribosomal protein L8	64					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			kidney(12)|lung(7)|prostate(1)	20	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)		GATACGGATCCCGGAAGACCA	0.657																																						uc003zeb.2		NA																	0					0						c.(190-192)CGG>CGT		ribosomal protein L8							74.0	85.0	82.0					8																	146017246		2203	4300	6503	SO:0001819	synonymous_variant	6132				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	rRNA binding|structural constituent of ribosome	g.chr8:146017246C>A	Z28407	CCDS6433.1	8q24.3	2011-04-06			ENSG00000161016	ENSG00000161016		"""L ribosomal proteins"""	10368	protein-coding gene	gene with protein product		604177				7506540, 9582194	Standard	NM_033301		Approved	L8	uc003zec.3	P62917	OTTHUMG00000165249	ENST00000262584.3:c.192G>T	8.37:g.146017246C>A						RPL8_uc003zdz.2_RNA|RPL8_uc003zea.2_Intron|RPL8_uc003zec.2_Silent_p.R64R|RPL8_uc010mgc.2_Silent_p.R64R	p.R64R	NM_033301	NP_150644	P62917	RL8_HUMAN	Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)	3	303	-	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		64					A8K094|D3DWN2|P25120|Q567Q7|Q969V7|Q9BWQ9	Silent	SNP	ENST00000262584.3	37	c.192G>T	CCDS6433.1																																																																																				0.657	RPL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382948.1	NM_000973		33	171	1	0	3.28e-08	4.02e-08	33	171				
CDKN2A	1029	broad.mit.edu	37	9	21971035	21971035	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr9:21971035T>A	ENST00000304494.5	-	2	593	c.323A>T	c.(322-324)gAt>gTt	p.D108V	CDKN2A_ENST00000446177.1_Missense_Mutation_p.D108V|CDKN2A_ENST00000497750.1_Missense_Mutation_p.D57V|CDKN2A_ENST00000494262.1_Missense_Mutation_p.D57V|CDKN2A_ENST00000578845.2_Missense_Mutation_p.D57V|CDKN2A_ENST00000530628.2_Silent_p.R122R|CDKN2A_ENST00000479692.2_Missense_Mutation_p.D57V|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Missense_Mutation_p.D57V|CDKN2A_ENST00000498124.1_Missense_Mutation_p.D108V|CDKN2A_ENST00000579122.1_Missense_Mutation_p.D108V|CDKN2A_ENST00000361570.3_Silent_p.R163R|CDKN2A_ENST00000579755.1_Silent_p.R122R	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	108			D -> H (in a bladder tumor).|D -> Y (in a head and neck tumor).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.D108G(2)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R163R(1)|p.R107fs*33(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCCCCAGGCATCGCGCACGTC	0.741		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1368	Whole gene deletion(1316)|Unknown(44)|Deletion - Frameshift(5)|Substitution - Missense(2)|Substitution - coding silent(1)	p.0?(1112)|p.D108Y(14)|p.?(13)|p.D108H(9)|p.D108N(5)|p.H83fs*2(2)|p.D105fs*8(1)|p.A68fs*3(1)|p.R107fs*33(1)	haematopoietic_and_lymphoid_tissue(283)|skin(174)|central_nervous_system(167)|lung(148)|urinary_tract(91)|bone(74)|soft_tissue(57)|pleura(51)|oesophagus(51)|upper_aerodigestive_tract(49)|ovary(36)|kidney(32)|pancreas(32)|breast(32)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(9)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678						c.(322-324)GAT>GTT		cyclin-dependent kinase inhibitor 2A isoform 1							17.0	19.0	18.0					9																	21971035		2198	4292	6490	SO:0001583	missense	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971035T>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.323A>T	9.37:g.21971035T>A	ENSP00000307101:p.Asp108Val	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Silent_p.R163R	p.D108V	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	535	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	108		D -> Y (in a head and neck tumor).|D -> H (in a bladder tumor).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.323A>T	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.589002	0.86851	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	D;D	0.94184	-3.37;-3.37	5.93	5.93	0.95920	Ankyrin repeat-containing domain (4);	.	.	.	.	D	0.96784	0.8950	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97315	0.9940	8	0.87932	D	0	-14.8146	15.3697	0.74554	0.0:0.0:0.0:1.0	.	108	P42771	CD2A1_HUMAN	V	108	ENSP00000307101:D108V;ENSP00000394932:D108V	ENSP00000307101:D108V	D	-	2	0	CDKN2A	21961035	1.000000	0.71417	0.974000	0.42286	0.662000	0.39071	7.037000	0.76531	2.265000	0.75225	0.533000	0.62120	GAT		0.741	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		23	4	0	0	0	0	23	4				
TAF1L	138474	broad.mit.edu	37	9	32633172	32633172	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr9:32633172G>A	ENST00000242310.4	-	1	2495	c.2406C>T	c.(2404-2406)ggC>ggT	p.G802G	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	802					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GACACTGCTGGCCAACCACAA	0.423																																						uc003zrg.1		NA																	0				lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(2404-2406)GGC>GGT		TBP-associated factor RNA polymerase 1-like							160.0	163.0	162.0					9																	32633172		2203	4300	6503	SO:0001819	synonymous_variant	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32633172G>A	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2406C>T	9.37:g.32633172G>A						uc003zrh.1_5'Flank	p.G802G	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	2496	-			802					Q0VG57	Silent	SNP	ENST00000242310.4	37	c.2406C>T	CCDS35003.1																																																																																				0.423	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			53	112	0	0	0	0	53	112				
FOXB2	442425	broad.mit.edu	37	9	79634859	79634859	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr9:79634859T>A	ENST00000376708.1	+	1	289	c.289T>A	c.(289-291)Ttc>Atc	p.F97I		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	97					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|lung(8)|ovary(1)	10						CGGGGACATGTTCGAGAACGG	0.652																																						uc004ako.1		NA																	0					0						c.(289-291)TTC>ATC		forkhead box B2							38.0	42.0	40.0					9																	79634859		2203	4300	6503	SO:0001583	missense	442425				brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter 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 activator activity|transcription factor binding	g.chr9:79634859T>A		CCDS35045.1	9q21.2	2008-02-05			ENSG00000204612	ENSG00000204612		"""Forkhead boxes"""	23315	protein-coding gene	gene with protein product							Standard	NM_001013735		Approved	bA159H20.4	uc004ako.1	Q5VYV0	OTTHUMG00000020051	ENST00000376708.1:c.289T>A	9.37:g.79634859T>A	ENSP00000365898:p.Phe97Ile						p.F97I	NM_001013735	NP_001013757	Q5VYV0	FOXB2_HUMAN			1	289	+			97			Fork-head.			Missense_Mutation	SNP	ENST00000376708.1	37	c.289T>A	CCDS35045.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.087120	0.76642	.	.	ENSG00000204612	ENST00000376708	D	0.95949	-3.86	4.47	4.47	0.54385	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	D	0.97736	0.9257	M	0.86573	2.825	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98552	1.0637	10	0.87932	D	0	.	13.7503	0.62904	0.0:0.0:0.0:1.0	.	97	Q5VYV0	FOXB2_HUMAN	I	97	ENSP00000365898:F97I	ENSP00000365898:F97I	F	+	1	0	FOXB2	78824679	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.853000	0.86934	1.654000	0.50703	0.379000	0.24179	TTC		0.652	FOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052745.1	NM_001013735		26	35	0	0	0	0	26	35				
SPATA31D1	389763	broad.mit.edu	37	9	84609214	84609214	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr9:84609214T>A	ENST00000344803.2	+	4	3876	c.3829T>A	c.(3829-3831)Tgt>Agt	p.C1277S		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1277					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GGTCCCTACCTGTGTCTTACA	0.552																																						uc004amn.2		NA																	0					0						c.(3829-3831)TGT>AGT		hypothetical protein LOC389763							66.0	66.0	66.0					9																	84609214		1985	4152	6137	SO:0001583	missense	389763					integral to membrane		g.chr9:84609214T>A		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.3829T>A	9.37:g.84609214T>A	ENSP00000341988:p.Cys1277Ser						p.C1277S	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			4	3876	+			1277						Missense_Mutation	SNP	ENST00000344803.2	37	c.3829T>A	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	T	3.938	-0.014705	0.07681	.	.	ENSG00000214929	ENST00000344803	T	0.04360	3.64	3.26	1.42	0.22433	.	.	.	.	.	T	0.02380	0.0073	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47812	-0.9088	9	0.09084	T	0.74	1.9158	9.0567	0.36410	0.0:0.8776:0.0:0.1224	.	1277	Q6ZQQ2	F75D1_HUMAN	S	1277	ENSP00000341988:C1277S	ENSP00000341988:C1277S	C	+	1	0	FAM75D1	83799034	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.717000	0.04986	0.414000	0.25790	-0.716000	0.03619	TGT		0.552	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		38	46	0	0	0	0	38	46				
TBC1D2	55357	broad.mit.edu	37	9	101017708	101017708	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr9:101017708C>G	ENST00000375064.1	-	1	154	c.116G>C	c.(115-117)cGg>cCg	p.R39P	TBC1D2_ENST00000342112.5_5'UTR|TBC1D2_ENST00000375066.5_Missense_Mutation_p.R39P	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	39	Interaction with CADH1.				positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CTCCAGGGACCGGGCGCAGTC	0.637																																						uc011lvb.1		NA																	0				ovary(3)	3						c.(115-117)CGG>CCG		TBC1 domain family, member 2							33.0	39.0	37.0					9																	101017708		2203	4300	6503	SO:0001583	missense	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:101017708C>G	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"""prostate antigen recognized and identified by SEREX"""	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.116G>C	9.37:g.101017708C>G	ENSP00000364205:p.Arg39Pro					TBC1D2_uc004ayq.2_Missense_Mutation_p.R39P|TBC1D2_uc004ayr.2_5'UTR|TBC1D2_uc004ayo.3_Missense_Mutation_p.R39P	p.R39P	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	1	296	-		Myeloproliferative disorder(762;0.0255)	39			Interaction with CADH1.		B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	ENST00000375064.1	37	c.116G>C		.	.	.	.	.	.	.	.	.	.	C	9.296	1.051784	0.19827	.	.	ENSG00000095383	ENST00000375064;ENST00000375066	T;T	0.09163	3.31;3.01	5.55	4.66	0.58398	.	0.712511	0.13161	N	0.409067	T	0.19927	0.0479	L	0.45581	1.43	0.80722	D	1	D;D	0.57571	0.966;0.98	P;P	0.58391	0.692;0.838	T	0.01626	-1.1309	10	0.24483	T	0.36	.	10.2308	0.43253	0.0:0.9089:0.0:0.0911	.	39;39	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	P	39	ENSP00000364205:R39P;ENSP00000364207:R39P	ENSP00000364205:R39P	R	-	2	0	TBC1D2	100057529	0.089000	0.21612	0.957000	0.39632	0.136000	0.21042	0.328000	0.19681	1.340000	0.45581	0.561000	0.74099	CGG		0.637	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421		14	30	0	0	0	0	14	30				
COL15A1	1306	broad.mit.edu	37	9	101749627	101749627	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr9:101749627C>A	ENST00000375001.3	+	4	1123	c.700C>A	c.(700-702)Ctg>Atg	p.L234M		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	234	Laminin G-like.|Nonhelical region 1 (NC1).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TCCCGAGGAGCTGTGTGACCC	0.642																																						uc004azb.1		NA																	0				ovary(6)	6						c.(700-702)CTG>ATG		alpha 1 type XV collagen precursor							125.0	119.0	121.0					9																	101749627		2203	4300	6503	SO:0001583	missense	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101749627C>A	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.700C>A	9.37:g.101749627C>A	ENSP00000364140:p.Leu234Met						p.L234M	NM_001855	NP_001846	P39059	COFA1_HUMAN			4	906	+		Acute lymphoblastic leukemia(62;0.0562)	234			Nonhelical region 1 (NC1).		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	c.700C>A	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	C	6.168	0.399173	0.11696	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	T	0.74526	-0.85	5.1	2.15	0.27550	Concanavalin A-like lectin/glucanase (1);	0.665977	0.14807	N	0.297253	T	0.49218	0.1544	N	0.03115	-0.41	0.27134	N	0.96182	B	0.21452	0.056	B	0.24394	0.053	T	0.39522	-0.9610	10	0.33141	T	0.24	8.0E-4	8.1468	0.31117	0.3208:0.5242:0.155:0.0	.	234	P39059	COFA1_HUMAN	M	234;204	ENSP00000364140:L234M	ENSP00000364140:L234M	L	+	1	2	COL15A1	100789448	1.000000	0.71417	0.994000	0.49952	0.185000	0.23345	1.929000	0.40114	0.224000	0.20940	0.650000	0.86243	CTG		0.642	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		21	160	1	0	1.56e-14	2.12e-14	21	160				
KIF12	113220	broad.mit.edu	37	9	116858353	116858353	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr9:116858353G>C	ENST00000374118.3	-	6	696	c.459C>G	c.(457-459)atC>atG	p.I153M	KIF12_ENST00000473174.1_Intron	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	286	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						GGCTTCGGTTGATGCTGTTAG	0.617																																						uc004bif.2		NA																	0					0						c.(457-459)ATC>ATG		kinesin family member 12							58.0	64.0	62.0					9																	116858353		2203	4300	6503	SO:0001583	missense	113220				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:116858353G>C	BC010626	CCDS6801.1	9q33.1	2008-02-05			ENSG00000136883	ENSG00000136883		"""Kinesins"""	21495	protein-coding gene	gene with protein product		611278					Standard	NM_138424		Approved		uc004bif.3	Q96FN5	OTTHUMG00000020533	ENST00000374118.3:c.459C>G	9.37:g.116858353G>C	ENSP00000363232:p.Ile153Met					KIF12_uc004big.2_RNA	p.I153M	NM_138424	NP_612433	Q96FN5	KIF12_HUMAN			6	697	-			286			Kinesin-motor.		Q5TBE0	Missense_Mutation	SNP	ENST00000374118.3	37	c.459C>G	CCDS6801.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.141012	0.56936	.	.	ENSG00000136883	ENST00000374118;ENST00000259410	D	0.84800	-1.9	5.69	2.85	0.33270	Kinesin, motor domain (4);	0.000000	0.64402	D	0.000005	D	0.93867	0.8038	H	0.96916	3.905	0.36597	D	0.87442	D	0.89917	1.0	D	0.97110	1.0	D	0.93167	0.6563	10	0.87932	D	0	.	8.1419	0.31089	0.1496:0.0:0.7197:0.1306	.	286	Q96FN5	KIF12_HUMAN	M	153;286	ENSP00000363232:I153M	ENSP00000259410:I286M	I	-	3	3	KIF12	115898174	1.000000	0.71417	0.999000	0.59377	0.957000	0.61999	1.716000	0.37981	0.069000	0.16605	-0.824000	0.03097	ATC		0.617	KIF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053751.1	NM_138424		39	68	0	0	0	0	39	68				
TLR4	7099	broad.mit.edu	37	9	120476132	120476132	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr9:120476132C>A	ENST00000355622.6	+	3	1827	c.1726C>A	c.(1726-1728)Ctt>Att	p.L576I	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.L536I	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	576					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	TTTCTTAAATCTTACTCAGAA	0.413																																						uc004bjz.2		NA																	0				lung(10)|ovary(4)|breast(1)|skin(1)	16						c.(1726-1728)CTT>ATT		toll-like receptor 4 precursor							74.0	66.0	69.0					9																	120476132		2203	4300	6503	SO:0001583	missense	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120476132C>A	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.1726C>A	9.37:g.120476132C>A	ENSP00000363089:p.Leu576Ile					TLR4_uc004bka.2_Missense_Mutation_p.L536I|TLR4_uc004bkb.2_Missense_Mutation_p.L376I	p.L576I	NM_138554	NP_612564	O00206	TLR4_HUMAN			3	2017	+			576			Extracellular (Potential).		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	c.1726C>A	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.440025	0.63067	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.00949	5.51;5.51	6.02	4.12	0.48240	.	0.198974	0.35936	N	0.002899	T	0.02848	0.0085	M	0.65975	2.015	0.39893	D	0.973796	P	0.50819	0.939	P	0.57960	0.83	T	0.57069	-0.7874	10	0.38643	T	0.18	.	7.8367	0.29374	0.1276:0.6947:0.1113:0.0665	.	576	O00206	TLR4_HUMAN	I	536;576	ENSP00000377997:L536I;ENSP00000363089:L576I	ENSP00000363089:L576I	L	+	1	0	TLR4	119515953	0.923000	0.31300	0.990000	0.47175	0.984000	0.73092	0.150000	0.16263	1.513000	0.48852	0.650000	0.86243	CTT		0.413	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		17	34	1	0	0.000422831	0.0004635	17	34				
SPTAN1	6709	broad.mit.edu	37	9	131331097	131331097	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr9:131331097A>T	ENST00000372731.4	+	3	394	c.284A>T	c.(283-285)aAc>aTc	p.N95I	SPTAN1_ENST00000372739.3_Missense_Mutation_p.N95I|SPTAN1_ENST00000358161.5_Missense_Mutation_p.N95I	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	95					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GTGCAGGCCAACTCAGGAGCC	0.488																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3		NA																	0				breast(5)|ovary(4)|pancreas(1)	10						c.(283-285)AAC>ATC		spectrin, alpha, non-erythrocytic 1							113.0	97.0	102.0					9																	131331097		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131331097A>T	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.284A>T	9.37:g.131331097A>T	ENSP00000361816:p.Asn95Ile					SPTAN1_uc011mbg.1_Missense_Mutation_p.N95I|SPTAN1_uc011mbh.1_Missense_Mutation_p.N107I|SPTAN1_uc004bvm.3_Missense_Mutation_p.N95I|SPTAN1_uc004bvn.3_Missense_Mutation_p.N95I	p.N95I	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			3	397	+			95			Spectrin 2.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.284A>T	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.842077	0.91197	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.34275	1.37;1.37;1.37	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.64204	0.2577	M	0.83603	2.65	0.80722	D	1	D;D;D;D;D	0.89917	0.998;1.0;0.999;1.0;1.0	D;D;D;D;D	0.87578	0.968;0.998;0.965;0.997;0.989	T	0.68473	-0.5399	10	0.62326	D	0.03	.	15.7569	0.78037	1.0:0.0:0.0:0.0	.	95;95;95;95;95	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	I	95	ENSP00000350882:N95I;ENSP00000361816:N95I;ENSP00000361824:N95I	ENSP00000350882:N95I	N	+	2	0	SPTAN1	130370918	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.910000	0.92685	2.371000	0.80710	0.533000	0.62120	AAC		0.488	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		54	9	0	0	0	0	54	9				
RXRA	6256	broad.mit.edu	37	9	137293648	137293648	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr9:137293648G>T	ENST00000481739.1	+	2	251	c.199G>T	c.(199-201)Gtc>Ttc	p.V67F	RXRA_ENST00000356384.4_3'UTR	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	67	Modulating. {ECO:0000250}.				camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	GCCTTTCTCGGTCATCAGCTC	0.697																																						uc004cfb.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(199-201)GTC>TTC		retinoid X receptor, alpha	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)						53.0	57.0	56.0					9																	137293648		2203	4299	6502	SO:0001583	missense	6256				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding	g.chr9:137293648G>T	X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"""Nuclear hormone receptors"""	10477	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 1"""	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000481739.1:c.199G>T	9.37:g.137293648G>T	ENSP00000419692:p.Val67Phe					RXRA_uc004cfa.1_Missense_Mutation_p.G117V	p.V67F	NM_002957	NP_002948	P19793	RXRA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	2	361	+			67			Modulating (By similarity).		B3KY83|Q2NL52|Q2V504	Missense_Mutation	SNP	ENST00000481739.1	37	c.199G>T	CCDS35172.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.456287	0.84317	.	.	ENSG00000186350	ENST00000481739	D	0.93189	-3.18	4.73	4.73	0.59995	.	0.000000	0.64402	D	0.000001	D	0.94456	0.8216	M	0.83384	2.64	0.80722	D	1	B	0.24132	0.098	B	0.35688	0.208	D	0.92986	0.6410	10	0.31617	T	0.26	.	17.7035	0.88302	0.0:0.0:1.0:0.0	.	67	P19793	RXRA_HUMAN	F	67	ENSP00000419692:V67F	ENSP00000419692:V67F	V	+	1	0	RXRA	136433469	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	8.996000	0.93539	2.171000	0.68590	0.462000	0.41574	GTC		0.697	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054949.1	NM_002957		124	40	1	0	4.57e-79	7.18e-79	124	40				
OLFM1	10439	broad.mit.edu	37	9	137998625	137998625	+	Missense_Mutation	SNP	C	C	A	rs146984036		TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr9:137998625C>A	ENST00000371793.3	+	5	958	c.707C>A	c.(706-708)cCc>cAc	p.P236H	OLFM1_ENST00000371796.3_Missense_Mutation_p.P209H|OLFM1_ENST00000252854.4_Missense_Mutation_p.P218H	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1	236	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of neuron migration (GO:2001223)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)	p.P218L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		ATCAGTGACCCCGTGACTGTC	0.637																																						uc010nar.2		NA																	1	Substitution - Missense(1)	p.P218L(1)	skin(1)	ovary(1)|skin(1)	2						c.(706-708)CCC>CAC		olfactomedin related ER localized protein							74.0	62.0	66.0					9																	137998625		2203	4300	6503	SO:0001583	missense	10439				nervous system development	endoplasmic reticulum lumen	protein binding	g.chr9:137998625C>A	AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			ENSG00000130558	ENSG00000130558			17187	protein-coding gene	gene with protein product	"""pancortin"""	605366				9039501	Standard	NM_006334		Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	Q99784	OTTHUMG00000020897	ENST00000371793.3:c.707C>A	9.37:g.137998625C>A	ENSP00000360858:p.Pro236His					OLFM1_uc004cfl.3_Missense_Mutation_p.P218H|OLFM1_uc004cfn.3_5'UTR	p.P236H	NM_014279	NP_055094	Q99784	NOE1_HUMAN		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)	5	1023	+		Myeloproliferative disorder(178;0.0333)	236			Olfactomedin-like.		Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Missense_Mutation	SNP	ENST00000371793.3	37	c.707C>A		.	.	.	.	.	.	.	.	.	.	C	27.3	4.815916	0.90790	.	.	ENSG00000130558	ENST00000252854;ENST00000371796;ENST00000371793;ENST00000539877	D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.72	4.75	4.75	0.60458	Olfactomedin-like (3);	0.057306	0.64402	D	0.000001	D	0.96580	0.8884	M	0.94101	3.495	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.81914	0.947;0.995	D	0.97877	1.0289	10	0.87932	D	0	.	17.75	0.88430	0.0:1.0:0.0:0.0	.	236;218	Q99784;Q6IMJ8	NOE1_HUMAN;.	H	218;209;236;133	ENSP00000252854:P218H;ENSP00000360861:P209H;ENSP00000360858:P236H;ENSP00000443806:P133H	ENSP00000252854:P218H	P	+	2	0	OLFM1	137138446	1.000000	0.71417	0.978000	0.43139	0.984000	0.73092	7.620000	0.83070	2.147000	0.66899	0.561000	0.74099	CCC		0.637	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000054974.1	NM_014279		15	10	1	0	3.41e-10	4.34e-10	15	10				
SNAPC4	6621	broad.mit.edu	37	9	139282935	139282935	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr9:139282935G>T	ENST00000298532.2	-	10	1452	c.1084C>A	c.(1084-1086)Cag>Aag	p.Q362K		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CGCATCTCCTGCACCAGCTGC	0.622																																						uc004chh.2		NA																	0					0						c.(1084-1086)CAG>AAG		small nuclear RNA activating complex,							84.0	67.0	73.0					9																	139282935		2203	4300	6503	SO:0001583	missense	6621				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:139282935G>T	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.1084C>A	9.37:g.139282935G>T	ENSP00000298532:p.Gln362Lys						p.Q362K	NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)	10	1093	-		Myeloproliferative disorder(178;0.0511)	362			Myb-like 2.			Missense_Mutation	SNP	ENST00000298532.2	37	c.1084C>A	CCDS6998.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.272718	0.80580	.	.	ENSG00000165684	ENST00000298532	T	0.22945	1.93	5.48	4.56	0.56223	SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);MYB-like (1);	0.252395	0.38663	N	0.001609	T	0.24392	0.0591	N	0.14661	0.345	0.29765	N	0.83523	D	0.54772	0.968	P	0.50970	0.655	T	0.04041	-1.0982	10	0.39692	T	0.17	-23.251	16.3495	0.83197	0.0:0.1653:0.8347:0.0	.	362	Q5SXM2	SNPC4_HUMAN	K	362	ENSP00000298532:Q362K	ENSP00000298532:Q362K	Q	-	1	0	SNAPC4	138402756	0.998000	0.40836	0.994000	0.49952	0.994000	0.84299	2.783000	0.47766	2.588000	0.87417	0.561000	0.74099	CAG		0.622	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086		14	46	1	0	9.31e-06	1.07e-05	14	46				
MXRA5	25878	broad.mit.edu	37	X	3235181	3235181	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:3235181T>A	ENST00000217939.6	-	6	6695	c.6541A>T	c.(6541-6543)Agg>Tgg	p.R2181W		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2181	Ig-like C2-type 6.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GACGGCAGCCTCCAGAGGATG	0.652																																						uc004crg.3		NA																	0				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(6541-6543)AGG>TGG		adlican precursor							15.0	14.0	14.0					X																	3235181		2193	4288	6481	SO:0001583	missense	25878					extracellular region		g.chrX:3235181T>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.6541A>T	X.37:g.3235181T>A	ENSP00000217939:p.Arg2181Trp						p.R2181W	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			6	6698	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2181			Ig-like C2-type 6.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.6541A>T	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	T	12.32	1.902338	0.33628	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.78816	-1.21	3.34	-1.09	0.09904	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.33253	U	0.005119	D	0.83617	0.5293	M	0.68593	2.085	0.41626	D	0.988992	D	0.89917	1.0	D	0.91635	0.999	T	0.81150	-0.1064	10	0.45353	T	0.12	.	11.9415	0.52903	0.0:0.0:0.4833:0.5167	.	2181	Q9NR99	MXRA5_HUMAN	W	2181	ENSP00000217939:R2181W	ENSP00000217939:R2181W	R	-	1	2	MXRA5	3245181	1.000000	0.71417	0.151000	0.22473	0.047000	0.14425	1.124000	0.31320	-0.264000	0.09365	0.483000	0.47432	AGG		0.652	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		3	8	0	0	0	0	3	8				
NLGN4X	57502	broad.mit.edu	37	X	5821198	5821198	+	Silent	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:5821198G>T	ENST00000381095.3	-	5	2148	c.1521C>A	c.(1519-1521)ctC>ctA	p.L507L	NLGN4X_ENST00000538097.1_Silent_p.L507L|NLGN4X_ENST00000381092.1_Silent_p.L507L|NLGN4X_ENST00000381093.2_Silent_p.L527L|NLGN4X_ENST00000275857.6_Silent_p.L507L	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	507					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TACAACTGAAGAGCTCGGTGG	0.537																																						uc010ndh.2		NA																	0				skin(2)|large_intestine(1)|ovary(1)	4						c.(1519-1521)CTC>CTA		X-linked neuroligin 4 precursor							107.0	89.0	95.0					X																	5821198		2203	4300	6503	SO:0001819	synonymous_variant	57502				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	g.chrX:5821198G>T	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.1521C>A	X.37:g.5821198G>T						NLGN4X_uc004crp.2_Silent_p.L527L|NLGN4X_uc004crq.2_Silent_p.L507L|NLGN4X_uc010ndi.2_Silent_p.L544L|NLGN4X_uc004crr.2_Silent_p.L507L|NLGN4X_uc010ndj.2_Silent_p.L507L	p.L507L	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN			5	2022	-			507			Extracellular (Potential).		Q6UX10|Q9ULG0	Silent	SNP	ENST00000381095.3	37	c.1521C>A	CCDS14126.1																																																																																				0.537	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		17	53	1	0	3.46e-05	3.91e-05	17	53				
FAM9B	171483	broad.mit.edu	37	X	8997416	8997416	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:8997416G>A	ENST00000327220.5	-	6	689	c.325C>T	c.(325-327)Ctt>Ttt	p.L109F	FAM9B_ENST00000428477.1_Missense_Mutation_p.L109F|FAM9B_ENST00000362066.3_Missense_Mutation_p.L149F			Q8IZU0	FAM9B_HUMAN	family with sequence similarity 9, member B	109						nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11		Hepatocellular(5;0.219)				TATTCTTCAAGGACATTTAGC	0.363																																						uc011mhu.1		NA																	0					0						c.(325-327)CTT>TTT		family with sequence similarity 9, member B							208.0	156.0	174.0					X																	8997416		2203	4300	6503	SO:0001583	missense	171483					nucleus		g.chrX:8997416G>A		CCDS14132.1	Xp22.31	2014-02-17			ENSG00000177138	ENSG00000177138			18404	protein-coding gene	gene with protein product	"""testis expressed 39B"""	300478				12213195, 21085121, 21998597, 22936694	Standard	XM_005274456		Approved	TEX39B	uc011mhu.2	Q8IZU0	OTTHUMG00000021114	ENST00000327220.5:c.325C>T	X.37:g.8997416G>A	ENSP00000318716:p.Leu109Phe					FAM9B_uc011mhv.1_RNA|FAM9B_uc004csh.2_Missense_Mutation_p.L149F	p.L109F	NM_205849	NP_995321	Q8IZU0	FAM9B_HUMAN			5	414	-		Hepatocellular(5;0.219)	109					Q0IJ68|Q8N7Z8	Missense_Mutation	SNP	ENST00000327220.5	37	c.325C>T	CCDS14132.1	.	.	.	.	.	.	.	.	.	.	G	6.629	0.484541	0.12641	.	.	ENSG00000177138	ENST00000362066;ENST00000327220;ENST00000428477	.	.	.	0.43	-0.86	0.10680	.	.	.	.	.	T	0.34978	0.0916	N	0.25426	0.745	0.09310	N	1	D;D	0.63880	0.993;0.993	D;D	0.68943	0.961;0.961	T	0.27365	-1.0076	7	0.12766	T	0.61	.	.	.	.	.	109;149	Q8IZU0;Q8N7Z8	FAM9B_HUMAN;.	F	149;109;109	.	ENSP00000318716:L109F	L	-	1	0	FAM9B	8957416	0.005000	0.15991	0.001000	0.08648	0.001000	0.01503	0.575000	0.23729	-0.561000	0.06094	-0.568000	0.04159	CTT		0.363	FAM9B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055702.2	NM_205849		4	25	0	0	0	0	4	25				
SHROOM2	357	broad.mit.edu	37	X	9862691	9862691	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:9862691G>T	ENST00000380913.3	+	4	833	c.743G>T	c.(742-744)gGt>gTt	p.G248V		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	248					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CCCAGGCAGGGTGGCCGGCAG	0.667																																						uc004csu.1		NA																	0				ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8						c.(742-744)GGT>GTT		apical protein of Xenopus-like							30.0	26.0	27.0					X																	9862691		2201	4300	6501	SO:0001583	missense	357				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	g.chrX:9862691G>T	X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.743G>T	X.37:g.9862691G>T	ENSP00000370299:p.Gly248Val						p.G248V	NM_001649	NP_001640	Q13796	SHRM2_HUMAN			4	833	+		Hepatocellular(5;0.000888)	248					B9EIQ7	Missense_Mutation	SNP	ENST00000380913.3	37	c.743G>T	CCDS14135.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.160485	0.38119	.	.	ENSG00000146950	ENST00000380913	T	0.61510	0.1	4.04	1.12	0.20585	.	1.601220	0.03318	N	0.191448	T	0.54983	0.1892	M	0.63843	1.955	0.38474	D	0.947543	P	0.35612	0.512	B	0.32677	0.15	T	0.32719	-0.9896	10	0.46703	T	0.11	-7.6127	7.842	0.29403	0.09:0.2994:0.6106:0.0	.	248	Q13796	SHRM2_HUMAN	V	248	ENSP00000370299:G248V	ENSP00000370299:G248V	G	+	2	0	SHROOM2	9822691	0.559000	0.26562	0.000000	0.03702	0.040000	0.13550	1.714000	0.37961	-0.188000	0.10499	0.544000	0.68410	GGT		0.667	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		3	13	1	0	2.56e-06	3e-06	3	13				
FRMPD4	9758	broad.mit.edu	37	X	12632926	12632926	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:12632926G>A	ENST00000380682.1	+	4	854	c.348G>A	c.(346-348)ccG>ccA	p.P116P	7SK_ENST00000606842.1_RNA	NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	116	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AGCTGATCCCGGGAGATCAGA	0.517																																						uc004cuz.1		NA																	0				central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13						c.(346-348)CCG>CCA		FERM and PDZ domain containing 4							114.0	106.0	109.0					X																	12632926		2203	4300	6503	SO:0001819	synonymous_variant	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12632926G>A	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.348G>A	X.37:g.12632926G>A						FRMPD4_uc011mij.1_Silent_p.P108P	p.P116P	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN			4	854	+			116			PDZ.		A8K0X9|O15032	Silent	SNP	ENST00000380682.1	37	c.348G>A	CCDS35201.1																																																																																				0.517	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		21	73	0	0	0	0	21	73				
TLR7	51284	broad.mit.edu	37	X	12905663	12905663	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:12905663A>G	ENST00000380659.3	+	3	2175	c.2036A>G	c.(2035-2037)aAt>aGt	p.N679S		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	679					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	AATCTAAAGAATCTCTCTTTG	0.393																																						uc004cvc.2		NA																	0				ovary(2)|lung(2)|breast(1)	5						c.(2035-2037)AAT>AGT		toll-like receptor 7 precursor	Imiquimod(DB00724)						78.0	85.0	83.0					X																	12905663		2202	4298	6500	SO:0001583	missense	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12905663A>G	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.2036A>G	X.37:g.12905663A>G	ENSP00000370034:p.Asn679Ser						p.N679S	NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN			3	2175	+			679			Extracellular (Potential).|LRR 23.		D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	37	c.2036A>G	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	A	6.882	0.532080	0.13127	.	.	ENSG00000196664	ENST00000380659	T	0.55413	0.52	5.16	-1.01	0.10169	.	0.774357	0.12057	N	0.503559	T	0.27524	0.0676	N	0.04355	-0.22	0.20074	N	0.999936	B	0.11235	0.004	B	0.12156	0.007	T	0.18808	-1.0325	10	0.22109	T	0.4	.	11.9591	0.52999	0.7782:0.1446:0.0:0.0771	.	679	Q9NYK1	TLR7_HUMAN	S	679	ENSP00000370034:N679S	ENSP00000370034:N679S	N	+	2	0	TLR7	12815584	0.002000	0.14202	0.875000	0.34327	0.940000	0.58332	0.095000	0.15127	-0.359000	0.08150	0.430000	0.28490	AAT		0.393	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		40	131	0	0	0	0	40	131				
BMX	660	broad.mit.edu	37	X	15543445	15543445	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:15543445C>G	ENST00000357607.2	+	8	975	c.787C>G	c.(787-789)Caa>Gaa	p.Q263E	BMX_ENST00000342014.6_Missense_Mutation_p.Q263E|BMX_ENST00000348343.6_Missense_Mutation_p.Q263E			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	263					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)|signal transduction (GO:0007165)	cytosol (GO:0005829)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					AAGCAGTAACCAAAAAGAAAG	0.313																																						uc004cww.2		NA																	0				lung(3)|ovary(2)	5						c.(787-789)CAA>GAA		BMX non-receptor tyrosine kinase							116.0	105.0	109.0					X																	15543445		2203	4300	6503	SO:0001583	missense	660				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity	g.chrX:15543445C>G	AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1079	protein-coding gene	gene with protein product	"""BTK-like on X chromosome"""	300101				7970727	Standard	NM_203281		Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.787C>G	X.37:g.15543445C>G	ENSP00000350224:p.Gln263Glu					BMX_uc004cwx.3_Missense_Mutation_p.Q263E|BMX_uc004cwy.3_Missense_Mutation_p.Q263E	p.Q263E	NM_203281	NP_975010	P51813	BMX_HUMAN			8	975	+	Hepatocellular(33;0.183)		263					A6NIH9|O60564|Q12871	Missense_Mutation	SNP	ENST00000357607.2	37	c.787C>G	CCDS14168.1	.	.	.	.	.	.	.	.	.	.	C	9.508	1.105107	0.20632	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	T;T;T	0.75154	-0.91;-0.91;-0.91	4.66	4.66	0.58398	.	0.462866	0.18771	N	0.131617	T	0.53850	0.1822	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.11329	0.006	T	0.39440	-0.9614	10	0.27082	T	0.32	.	11.8926	0.52638	0.0:1.0:0.0:0.0	.	263	P51813	BMX_HUMAN	E	263	ENSP00000350224:Q263E;ENSP00000308774:Q263E;ENSP00000340082:Q263E	ENSP00000340082:Q263E	Q	+	1	0	BMX	15453366	0.115000	0.22152	0.606000	0.28943	0.117000	0.20001	3.233000	0.51311	2.290000	0.77057	0.600000	0.82982	CAA		0.313	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055877.1	NM_001721		15	68	0	0	0	0	15	68				
CDKL5	6792	broad.mit.edu	37	X	18622489	18622489	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:18622489A>G	ENST00000379989.3	+	13	1730	c.1445A>G	c.(1444-1446)tAc>tGc	p.Y482C	CDKL5_ENST00000463994.1_3'UTR|CDKL5_ENST00000379996.3_Missense_Mutation_p.Y482C	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	482					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					AGTCCCTCCTACAGGACCAAG	0.532																																						uc004cym.2		NA																	0				ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6						c.(1444-1446)TAC>TGC		cyclin-dependent kinase-like 5							106.0	99.0	101.0					X																	18622489		2203	4300	6503	SO:0001583	missense	6792				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	g.chrX:18622489A>G	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.1445A>G	X.37:g.18622489A>G	ENSP00000369325:p.Tyr482Cys					CDKL5_uc004cyn.2_Missense_Mutation_p.Y482C	p.Y482C	NM_003159	NP_003150	O76039	CDKL5_HUMAN			12	1698	+	Hepatocellular(33;0.183)		482					G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	c.1445A>G	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	A	16.10	3.028661	0.54790	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.79247	-1.25;-1.25	6.06	6.06	0.98353	.	0.052442	0.85682	D	0.000000	T	0.80138	0.4568	L	0.34521	1.04	0.35049	D	0.76047	D	0.69078	0.997	P	0.57283	0.817	D	0.86489	0.1796	10	0.87932	D	0	-18.1582	15.4998	0.75687	1.0:0.0:0.0:0.0	.	482	O76039	CDKL5_HUMAN	C	482	ENSP00000369332:Y482C;ENSP00000369325:Y482C	ENSP00000369325:Y482C	Y	+	2	0	CDKL5	18532410	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.850000	0.75420	2.044000	0.60594	0.486000	0.48141	TAC		0.532	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		21	114	0	0	0	0	21	114				
ACOT9	23597	broad.mit.edu	37	X	23723192	23723192	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:23723192G>A	ENST00000336430.7	-	13	1129	c.998C>T	c.(997-999)tCt>tTt	p.S333F	ACOT9_ENST00000379303.5_Missense_Mutation_p.S342F|ACOT9_ENST00000379295.1_Missense_Mutation_p.S273F	NM_001033583.2	NP_001028755.2	Q9Y305	ACOT9_HUMAN	acyl-CoA thioesterase 9	333					acyl-CoA metabolic process (GO:0006637)	mitochondrion (GO:0005739)	acetyl-CoA hydrolase activity (GO:0003986)|carboxylic ester hydrolase activity (GO:0052689)			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						AAACGGTCGAGAACCACTGTT	0.408																																						uc004dap.2		NA																	0				ovary(2)|pancreas(1)	3						c.(997-999)TCT>TTT		acyl-Coenzyme A thioesterase 2, mitochondrial							113.0	109.0	111.0					X																	23723192		2203	4300	6503	SO:0001583	missense	23597				acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity	g.chrX:23723192G>A	AF132950	CCDS35216.1, CCDS43924.1	Xp22.11	2008-02-05			ENSG00000123130	ENSG00000123130		"""Acyl CoA thioesterases"""	17152	protein-coding gene	gene with protein product		300862				10383425, 10810093, 16103133, 16940157	Standard	XM_005274471		Approved	CGI-16, MT-ACT48, ACATE2	uc004dao.3	Q9Y305	OTTHUMG00000021257	ENST00000336430.7:c.998C>T	X.37:g.23723192G>A	ENSP00000336580:p.Ser333Phe					ACOT9_uc004dan.2_Missense_Mutation_p.S83F|ACOT9_uc004dao.2_Missense_Mutation_p.S342F|ACOT9_uc004daq.2_Missense_Mutation_p.S291F|ACOT9_uc004dar.2_Missense_Mutation_p.S273F|ACOT9_uc011mjt.1_RNA|ACOT9_uc004das.2_Missense_Mutation_p.S273F	p.S333F	NM_001033583	NP_001028755	Q9Y305	ACOT9_HUMAN			13	1144	-			333					B3KNC9|B7ZM94	Missense_Mutation	SNP	ENST00000336430.7	37	c.998C>T	CCDS35216.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511087	0.64522	.	.	ENSG00000123130	ENST00000379303;ENST00000336430;ENST00000379295;ENST00000473710	T;T;T;T	0.30182	1.92;1.92;1.92;1.54	5.43	5.43	0.79202	Thioesterase superfamily (1);	0.197099	0.56097	D	0.000036	T	0.58221	0.2107	M	0.81497	2.545	0.80722	D	1	P;D;P	0.53619	0.942;0.961;0.951	P;P;P	0.62649	0.8;0.905;0.847	T	0.63265	-0.6676	10	0.72032	D	0.01	-13.4808	18.5628	0.91107	0.0:0.0:1.0:0.0	.	300;333;342	Q9Y305-2;Q9Y305;Q9Y305-4	.;ACOT9_HUMAN;.	F	342;333;273;259	ENSP00000368605:S342F;ENSP00000336580:S333F;ENSP00000368597:S273F;ENSP00000420490:S259F	ENSP00000336580:S333F	S	-	2	0	ACOT9	23633113	1.000000	0.71417	1.000000	0.80357	0.572000	0.35998	4.506000	0.60428	2.413000	0.81919	0.506000	0.49869	TCT		0.408	ACOT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056065.1	NM_012332		46	68	0	0	0	0	46	68				
MAGEB4	4115	broad.mit.edu	37	X	30260834	30260834	+	Silent	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:30260834C>A	ENST00000378982.2	+	1	778	c.582C>A	c.(580-582)acC>acA	p.T194T	MAGEB1_ENST00000397550.1_5'Flank|MAGEB1_ENST00000378981.3_5'Flank	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	194	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						GTGCCTGGACCCTTCCAAGGA	0.522																																						uc004dcb.2		NA																	0				ovary(1)	1						c.(580-582)ACC>ACA		melanoma antigen family B, 4							87.0	71.0	77.0					X																	30260834		2202	4300	6502	SO:0001819	synonymous_variant	4115							g.chrX:30260834C>A		CCDS14221.1	Xp21.3	2009-03-17			ENSG00000120289	ENSG00000120289			6811	protein-coding gene	gene with protein product	"""melanoma-associated antigen B4"", ""cancer/testis antigen family 3, member 6"""	300153				9441743	Standard	NM_002367		Approved	MGC33144, CT3.6	uc004dcb.3	O15481	OTTHUMG00000021321	ENST00000378982.2:c.582C>A	X.37:g.30260834C>A						MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank	p.T194T	NM_002367	NP_002358	O15481	MAGB4_HUMAN			1	666	+			194			MAGE.		B2R9G0|Q6FHH4|Q8IZ00	Silent	SNP	ENST00000378982.2	37	c.582C>A	CCDS14221.1																																																																																				0.522	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056159.1	NM_002367		16	17	1	0	0.00316338	0.00337111	16	17				
NR0B1	190	broad.mit.edu	37	X	30326619	30326619	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:30326619G>T	ENST00000378970.4	-	1	1096	c.862C>A	c.(862-864)Cgc>Agc	p.R288S	NR0B1_ENST00000453287.1_Missense_Mutation_p.R288S|NR0B1_ENST00000378963.1_5'Flank	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	288	Ligand-binding. {ECO:0000250}.				adrenal gland development (GO:0030325)|gene expression (GO:0010467)|gonad development (GO:0008406)|hypothalamus development (GO:0021854)|intracellular receptor signaling pathway (GO:0030522)|Leydig cell differentiation (GO:0033327)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of cell differentiation (GO:0045596)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|protein localization (GO:0008104)|response to immobilization stress (GO:0035902)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|steroid biosynthetic process (GO:0006694)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	AF-2 domain binding (GO:0050682)|DNA binding (GO:0003677)|DNA hairpin binding (GO:0032448)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|steroid hormone receptor binding (GO:0035258)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	CAGCAGTTGCGCACCAGCACC	0.632											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004dcf.3		NA																	0				ovary(1)|lung(1)	2						c.(862-864)CGC>AGC		nuclear receptor subfamily 0, group B, member 1	Dexamethasone(DB01234)|Tretinoin(DB00755)						15.0	10.0	12.0					X																	30326619		2186	4260	6446	SO:0001583	missense	190				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding	g.chrX:30326619G>T	S74720	CCDS14223.1	Xp21.3	2014-06-28			ENSG00000169297	ENSG00000169297		"""Nuclear hormone receptors"""	7960	protein-coding gene	gene with protein product		300473	"""dosage-sensitive sex reversal"""	AHC, DSS		1301166, 10412368	Standard	NM_000475		Approved	DAX1, AHCH	uc004dcf.4	P51843	OTTHUMG00000021323	ENST00000378970.4:c.862C>A	X.37:g.30326619G>T	ENSP00000368253:p.Arg288Ser		OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	816		p.R288S	NM_000475	NP_000466	P51843	NR0B1_HUMAN			1	877	-			288			Ligand-binding (By similarity).		Q96F69	Missense_Mutation	SNP	ENST00000378970.4	37	c.862C>A	CCDS14223.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.165828	0.57476	.	.	ENSG00000169297	ENST00000378970;ENST00000453287	D;D	0.96716	-4.1;-4.1	5.6	5.6	0.85130	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98071	0.9364	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98844	1.0756	10	0.87932	D	0	0.3413	13.5793	0.61893	0.0:0.0:0.8449:0.1551	.	288	P51843	NR0B1_HUMAN	S	288	ENSP00000368253:R288S;ENSP00000396403:R288S	ENSP00000368253:R288S	R	-	1	0	NR0B1	30236540	0.997000	0.39634	1.000000	0.80357	0.316000	0.28119	2.214000	0.42853	2.342000	0.79632	0.600000	0.82982	CGC		0.632	NR0B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056161.1	NM_000475		3	7	1	0	2.56e-06	3e-06	3	7				
NR0B1	190	broad.mit.edu	37	X	30327199	30327199	+	Silent	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:30327199C>T	ENST00000378970.4	-	1	516	c.282G>A	c.(280-282)ccG>ccA	p.P94P	NR0B1_ENST00000453287.1_Silent_p.P94P|NR0B1_ENST00000378963.1_5'Flank	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	94	4 X 67 AA tandem repeats.				adrenal gland development (GO:0030325)|gene expression (GO:0010467)|gonad development (GO:0008406)|hypothalamus development (GO:0021854)|intracellular receptor signaling pathway (GO:0030522)|Leydig cell differentiation (GO:0033327)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of cell differentiation (GO:0045596)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|protein localization (GO:0008104)|response to immobilization stress (GO:0035902)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|steroid biosynthetic process (GO:0006694)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	AF-2 domain binding (GO:0050682)|DNA binding (GO:0003677)|DNA hairpin binding (GO:0032448)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|steroid hormone receptor binding (GO:0035258)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.P94P(1)		central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	CGGGCGCCTTCGGTGCCGCGT	0.687																																						uc004dcf.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)	2						c.(280-282)CCG>CCA		nuclear receptor subfamily 0, group B, member 1	Dexamethasone(DB01234)|Tretinoin(DB00755)						27.0	26.0	26.0					X																	30327199		2195	4290	6485	SO:0001819	synonymous_variant	190				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding	g.chrX:30327199C>T	S74720	CCDS14223.1	Xp21.3	2014-06-28			ENSG00000169297	ENSG00000169297		"""Nuclear hormone receptors"""	7960	protein-coding gene	gene with protein product		300473	"""dosage-sensitive sex reversal"""	AHC, DSS		1301166, 10412368	Standard	NM_000475		Approved	DAX1, AHCH	uc004dcf.4	P51843	OTTHUMG00000021323	ENST00000378970.4:c.282G>A	X.37:g.30327199C>T							p.P94P	NM_000475	NP_000466	P51843	NR0B1_HUMAN			1	297	-			94			4 X 67 AA tandem repeats.|2.		Q96F69	Silent	SNP	ENST00000378970.4	37	c.282G>A	CCDS14223.1																																																																																				0.687	NR0B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056161.1	NM_000475		16	18	0	0	0	0	16	18				
CHDC2	286464	broad.mit.edu	37	X	36122647	36122647	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:36122647G>T	ENST00000313548.4	+	8	1070	c.884G>T	c.(883-885)tGc>tTc	p.C295F		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	295						integral component of membrane (GO:0016021)											GTGCCATACTGCAGCAATAAT	0.343																																						uc004ddk.1		NA																	0				central_nervous_system(1)	1						c.(883-885)TGC>TTC		hypothetical protein LOC286464							122.0	104.0	110.0					X																	36122647		2202	4300	6502	SO:0001583	missense	286464					integral to membrane		g.chrX:36122647G>T	AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"""chromosome X open reading frame 59"""	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.884G>T	X.37:g.36122647G>T	ENSP00000324767:p.Cys295Phe						p.C295F	NM_173695	NP_775966	Q8N9S7	CX059_HUMAN			8	1070	+			295						Missense_Mutation	SNP	ENST00000313548.4	37	c.884G>T	CCDS14238.1	.	.	.	.	.	.	.	.	.	.	G	6.234	0.411299	0.11812	.	.	ENSG00000176034	ENST00000378660;ENST00000313548	.	.	.	5.53	-3.48	0.04739	.	2.055710	0.02282	N	0.069492	T	0.29524	0.0736	L	0.36672	1.1	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.07673	-1.0760	9	0.42905	T	0.14	0.3417	2.1041	0.03687	0.368:0.3404:0.1747:0.1168	.	295	Q8N9S7	CX059_HUMAN	F	295	.	ENSP00000324767:C295F	C	+	2	0	CXorf59	36032568	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.702000	0.05069	-1.149000	0.02843	-0.190000	0.12839	TGC		0.343	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173695		23	92	1	0	6.07e-21	8.83e-21	23	92				
CXorf38	159013	broad.mit.edu	37	X	40498350	40498350	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:40498350G>T	ENST00000327877.5	-	3	408	c.382C>A	c.(382-384)Caa>Aaa	p.Q128K	CXorf38_ENST00000378421.1_Missense_Mutation_p.Q9K|CXorf38_ENST00000378426.1_Missense_Mutation_p.Q9K|CXorf38_ENST00000440784.2_Intron	NM_144970.2	NP_659407.1	Q8TB03	CX038_HUMAN	chromosome X open reading frame 38	128										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	12						TCAGGTCCTTGTTTGTCTGCT	0.498																																						uc004dew.2		NA																	0				ovary(1)	1						c.(382-384)CAA>AAA		hypothetical protein LOC159013							173.0	111.0	132.0					X																	40498350		2203	4300	6503	SO:0001583	missense	159013							g.chrX:40498350G>T	AL832829	CCDS14253.1	Xp11	2008-02-05			ENSG00000185753	ENSG00000185753			28589	protein-coding gene	gene with protein product							Standard	NM_144970		Approved	MGC39350	uc004dew.3	Q8TB03	OTTHUMG00000024104	ENST00000327877.5:c.382C>A	X.37:g.40498350G>T	ENSP00000330488:p.Gln128Lys					CXorf38_uc011mko.1_Intron|CXorf38_uc004dev.1_Missense_Mutation_p.Q9K|CXorf38_uc010nhd.2_RNA	p.Q128K	NM_144970	NP_659407	Q8TB03	CX038_HUMAN			3	387	-			128					B3KW28|D3DWB5|Q5JPF5|Q8N941	Missense_Mutation	SNP	ENST00000327877.5	37	c.382C>A	CCDS14253.1	.	.	.	.	.	.	.	.	.	.	G	1.846	-0.466124	0.04476	.	.	ENSG00000185753	ENST00000378426;ENST00000327877;ENST00000378421	T;T;T	0.39787	1.06;1.06;1.06	4.25	-1.32	0.09201	.	0.574046	0.16463	N	0.213327	T	0.09949	0.0244	N	0.01352	-0.895	0.43471	D	0.995686	B	0.02656	0.0	B	0.01281	0.0	T	0.38672	-0.9650	10	0.02654	T	1	-4.5692	3.5921	0.07993	0.1064:0.095:0.4302:0.3684	.	128	Q8TB03	CX038_HUMAN	K	9;128;9	ENSP00000367683:Q9K;ENSP00000330488:Q128K;ENSP00000367677:Q9K	ENSP00000330488:Q128K	Q	-	1	0	CXorf38	40383294	0.118000	0.22208	0.942000	0.38095	0.882000	0.50991	0.392000	0.20801	-0.452000	0.07087	0.597000	0.82753	CAA		0.498	CXorf38-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060685.3	NM_144970		13	75	1	0	6.72e-11	8.67e-11	13	75				
ZNF157	7712	broad.mit.edu	37	X	47272966	47272966	+	Silent	SNP	T	T	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:47272966T>G	ENST00000377073.3	+	4	1580	c.1494T>G	c.(1492-1494)cgT>cgG	p.R498R		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	498					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						GGTCCTGGCGTTGTACAATGA	0.502																																						uc004dhr.1		NA																	0					0						c.(1492-1494)CGT>CGG		zinc finger protein 157							71.0	60.0	64.0					X																	47272966		2203	4300	6503	SO:0001819	synonymous_variant	7712				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47272966T>G	U28687	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117		"""Zinc fingers, C2H2-type"", ""-"""	12942	protein-coding gene	gene with protein product		300024	"""zinc finger protein 157 (HZF22)"""			8586441	Standard	NM_003446		Approved	HZF22	uc004dhr.1	P51786	OTTHUMG00000021443	ENST00000377073.3:c.1494T>G	X.37:g.47272966T>G							p.R498R	NM_003446	NP_003437	P51786	ZN157_HUMAN			4	1563	+			498					Q96LE9	Silent	SNP	ENST00000377073.3	37	c.1494T>G	CCDS14278.1																																																																																				0.502	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056415.1	NM_003446		20	79	0	0	0	0	20	79				
PORCN	64840	broad.mit.edu	37	X	48370283	48370283	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:48370283G>A	ENST00000326194.6	+	3	376	c.333G>A	c.(331-333)gaG>gaA	p.E111E	PORCN_ENST00000537758.1_Silent_p.E111E|PORCN_ENST00000367574.4_Silent_p.E40E|PORCN_ENST00000355092.3_Silent_p.E111E|PORCN_ENST00000359882.4_Silent_p.E111E|PORCN_ENST00000355961.4_Silent_p.E111E|PORCN_ENST00000361988.3_Silent_p.E111E	NM_203475.1	NP_982301.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	111					glycoprotein metabolic process (GO:0009100)|Wnt signaling pathway (GO:0016055)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups (GO:0016746)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCCTCAGTGAGATGCACATGG	0.597											OREG0019764	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010nie.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(331-333)GAG>GAA		porcupine isoform D							158.0	105.0	123.0					X																	48370283		2203	4300	6503	SO:0001819	synonymous_variant	64840				Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	g.chrX:48370283G>A	AF317058	CCDS14296.1, CCDS14297.1, CCDS14298.1, CCDS14299.1	Xp11.23	2014-02-05			ENSG00000102312	ENSG00000102312			17652	protein-coding gene	gene with protein product		300651	"""dermal hypoplasia, focal"""	DHOF		10866835, 12034504, 17546030	Standard	NM_203474		Approved	MG61, PORC, PPN, por	uc004djv.1	Q9H237	OTTHUMG00000024116	ENST00000326194.6:c.333G>A	X.37:g.48370283G>A			OREG0019764	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	954	PORCN_uc004djq.1_Silent_p.E224E|PORCN_uc004djr.1_Silent_p.E111E|PORCN_uc004djs.1_Silent_p.E111E|PORCN_uc004djt.1_Silent_p.E40E|PORCN_uc011mlx.1_Silent_p.E40E|PORCN_uc004dju.1_5'UTR|PORCN_uc004djv.1_Silent_p.E111E|PORCN_uc004djw.1_Silent_p.E111E	p.E111E	NM_203475	NP_982301	Q9H237	PORCN_HUMAN			4	491	+			111			Helical; (Potential).		B2RBN8|B7ZAR3|Q14829|Q9H234|Q9H235|Q9H236|Q9UJU7	Silent	SNP	ENST00000326194.6	37	c.333G>A	CCDS14299.1																																																																																				0.597	PORCN-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356990.1	NM_022825		19	61	0	0	0	0	19	61				
HDAC6	10013	broad.mit.edu	37	X	48678561	48678561	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:48678561G>T	ENST00000334136.5	+	23	2414	c.2236G>T	c.(2236-2238)Ggg>Tgg	p.G746W	HDAC6_ENST00000444343.2_Missense_Mutation_p.G760W|HDAC6_ENST00000376619.2_Missense_Mutation_p.G746W			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	746	Histone deacetylase 2.				aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	TGCTGCACGGGGGGATCCGCT	0.572																																					Pancreas(112;205 1675 2305 8976 15959)	uc011mmi.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(2236-2238)GGG>TGG		histone deacetylase 6	Vorinostat(DB02546)						66.0	59.0	61.0					X																	48678561		2203	4300	6503	SO:0001583	missense	10013				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding	g.chrX:48678561G>T	AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 90"""	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.2236G>T	X.37:g.48678561G>T	ENSP00000334061:p.Gly746Trp					HDAC6_uc004dks.1_Missense_Mutation_p.G746W|HDAC6_uc010nig.1_Missense_Mutation_p.G594W|HDAC6_uc004dkt.1_Missense_Mutation_p.G746W|HDAC6_uc011mmk.1_Missense_Mutation_p.G727W|HDAC6_uc004dkv.1_Missense_Mutation_p.G394W|HDAC6_uc004dkw.1_Missense_Mutation_p.G394W|HDAC6_uc004dkx.1_Missense_Mutation_p.G109W	p.G746W	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN			23	2331	+			746			Histone deacetylase 2.		O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	ENST00000334136.5	37	c.2236G>T	CCDS14306.1	.	.	.	.	.	.	.	.	.	.	g	24.6	4.547004	0.86022	.	.	ENSG00000094631	ENST00000444343;ENST00000334136;ENST00000376619;ENST00000436813	T;T;T	0.72615	-0.67;-0.67;-0.67	5.25	5.25	0.73442	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	D	0.87034	0.6077	M	0.91717	3.235	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.89814	0.3984	10	0.87932	D	0	-26.4253	15.0357	0.71744	0.0:0.0:1.0:0.0	.	736;109;394;746	B4DZN1;B3KY98;B3KVK5;Q9UBN7	.;.;.;HDAC6_HUMAN	W	760;746;746;746	ENSP00000398566:G760W;ENSP00000334061:G746W;ENSP00000365804:G746W	ENSP00000334061:G746W	G	+	1	0	HDAC6	48563505	1.000000	0.71417	0.470000	0.27216	0.955000	0.61496	8.766000	0.91728	2.432000	0.82394	0.597000	0.82753	GGG		0.572	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044		15	74	1	0	1.15e-07	1.38e-07	15	74				
HDAC6	10013	broad.mit.edu	37	X	48681696	48681696	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:48681696G>C	ENST00000334136.5	+	25	3065	c.2887G>C	c.(2887-2889)Gac>Cac	p.D963H	HDAC6_ENST00000444343.2_Missense_Mutation_p.D977H|HDAC6_ENST00000376619.2_Missense_Mutation_p.D963H			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	963					aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	AGCCATTCTGGACCAGACCAC	0.647																																					Pancreas(112;205 1675 2305 8976 15959)	uc011mmi.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(2887-2889)GAC>CAC		histone deacetylase 6	Vorinostat(DB02546)						24.0	23.0	23.0					X																	48681696		2197	4299	6496	SO:0001583	missense	10013				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding	g.chrX:48681696G>C	AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 90"""	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.2887G>C	X.37:g.48681696G>C	ENSP00000334061:p.Asp963His					HDAC6_uc004dks.1_Missense_Mutation_p.D963H|HDAC6_uc010nig.1_Missense_Mutation_p.D811H|HDAC6_uc004dkt.1_Missense_Mutation_p.D963H|HDAC6_uc011mmk.1_Missense_Mutation_p.D944H|HDAC6_uc004dkv.1_Missense_Mutation_p.D611H|HDAC6_uc004dkw.1_Missense_Mutation_p.D611H|HDAC6_uc004dkx.1_Missense_Mutation_p.D326H	p.D963H	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN			25	2982	+			963					O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	ENST00000334136.5	37	c.2887G>C	CCDS14306.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.188237	0.57909	.	.	ENSG00000094631	ENST00000444343;ENST00000334136;ENST00000376619	T;T;T	0.60299	0.2;0.21;0.21	3.82	1.91	0.25777	.	.	.	.	.	T	0.39036	0.1063	N	0.19112	0.55	0.09310	N	0.999999	B;B;B;B	0.13145	0.001;0.007;0.002;0.001	B;B;B;B	0.10450	0.001;0.005;0.003;0.001	T	0.31888	-0.9927	9	0.66056	D	0.02	.	5.6932	0.17841	0.1233:0.2012:0.6755:0.0	.	953;326;611;963	B4DZN1;B3KY98;B3KVK5;Q9UBN7	.;.;.;HDAC6_HUMAN	H	977;963;963	ENSP00000398566:D977H;ENSP00000334061:D963H;ENSP00000365804:D963H	ENSP00000334061:D963H	D	+	1	0	HDAC6	48566640	0.000000	0.05858	0.018000	0.16275	0.616000	0.37450	-0.754000	0.04787	0.515000	0.28320	0.600000	0.82982	GAC		0.647	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044		3	14	0	0	0	0	3	14				
SLC35A2	7355	broad.mit.edu	37	X	48762559	48762559	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:48762559G>A	ENST00000247138.5	-	4	630	c.627C>T	c.(625-627)tcC>tcT	p.S209S	SLC35A2_ENST00000376515.3_Intron|SLC35A2_ENST00000376529.3_Intron|SLC35A2_ENST00000413561.2_Silent_p.S148S|SLC35A2_ENST00000445167.2_Intron|SLC35A2_ENST00000452555.2_Silent_p.S237S|SLC35A2_ENST00000376521.1_Silent_p.S209S	NM_005660.1	NP_005651.1	P78381	S35A2_HUMAN	solute carrier family 35 (UDP-galactose transporter), member A2	209					galactose metabolic process (GO:0006012)|transmembrane transport (GO:0055085)|UDP-galactose transport (GO:0015785)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	sugar:proton symporter activity (GO:0005351)|UDP-galactose transmembrane transporter activity (GO:0005459)			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						AGGAGAGACAGGAGGCCACGA	0.647																																						uc004dlo.1		NA																	0				breast(1)	1						c.(625-627)TCC>TCT		solute carrier family 35, member A2 isoform a							14.0	14.0	14.0					X																	48762559		2198	4285	6483	SO:0001819	synonymous_variant	7355				galactose metabolic process	Golgi membrane|integral to membrane|nucleus	sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity	g.chrX:48762559G>A	D88146	CCDS14311.1, CCDS35247.1, CCDS43937.1, CCDS65253.1, CCDS65254.1, CCDS75973.1, CCDS75974.1, CCDS75975.1	Xp11.23-p11.22	2013-05-22			ENSG00000102100	ENSG00000102100		"""Solute carriers"""	11022	protein-coding gene	gene with protein product		314375	"""solute carrier family 35 (UDP-galactose transporter), member 2"""	UGALT		8128316	Standard	NM_001042498		Approved	UGAT, UGT, UGT1, UGT2, UGTL	uc004dlo.1	P78381	OTTHUMG00000024129	ENST00000247138.5:c.627C>T	X.37:g.48762559G>A						SLC35A2_uc011mml.1_Silent_p.S222S|SLC35A2_uc004dlp.1_Silent_p.S209S|SLC35A2_uc011mmm.1_Silent_p.S237S|SLC35A2_uc011mmn.1_Silent_p.S148S|SLC35A2_uc004dlr.1_Intron|SLC35A2_uc004dlq.2_Intron	p.S209S	NM_005660	NP_005651	P78381	S35A2_HUMAN			4	631	-			209			Helical; (Potential).		A8K2L9|A8K9V1|B4DE11|B4DPT2|E7EW45|Q8IV21|Q92553	Silent	SNP	ENST00000247138.5	37	c.627C>T	CCDS14311.1																																																																																				0.647	SLC35A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060790.1	NM_005660		9	7	0	0	0	0	9	7				
GPKOW	27238	broad.mit.edu	37	X	48979050	48979051	+	Silent	DNP	GG	GG	TT			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:48979050_48979051GG>TT	ENST00000156109.5	-	2	330_331	c.252_253CC>AA	c.(250-255)gcCCgg>gcAAgg	p.84_85AR>AR		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	84						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						CCAGGGGGCCGGGCTGGTGGCT	0.629																																						uc004dmr.2		NA																	0				ovary(2)	2						c.(250-255)GCCCGG>GCAAGG		G patch domain and KOW motifs																																				SO:0001819	synonymous_variant	27238					nucleus	nucleic acid binding	g.chrX:48979050_48979051GG>TT	U66359	CCDS35251.1	Xp11.23	2013-01-28			ENSG00000068394	ENSG00000068394		"""G patch domain containing"""	30677	protein-coding gene	gene with protein product	"""G patch domain containing 5"""					21880142, 22365833	Standard	NM_015698		Approved	T54, GPATC5, GPATCH5, Spp2	uc004dmr.3	Q92917	OTTHUMG00000021511	ENST00000156109.5:c.252_253delinsTT	X.37:g.48979050_48979051delinsTT							p.84_85AR>AR	NM_015698	NP_056513	Q92917	GPKOW_HUMAN			2	259_260	-			84_85					Q59EK5|Q9BQA8	Silent	DNP	ENST00000156109.5	37	c.252_253CC>AA	CCDS35251.1																																																																																				0.629	GPKOW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056535.2	NM_015698		12	23	0	0	0	0	12	23				
CCDC22	28952	broad.mit.edu	37	X	49099871	49099871	+	Silent	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:49099871C>T	ENST00000376227.3	+	6	827	c.657C>T	c.(655-657)ggC>ggT	p.G219G	CCDC22_ENST00000496651.1_3'UTR	NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22	219										NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						AGCAGACGGGCCGGGACCGGC	0.682																																						uc004dnd.1		NA																	0				central_nervous_system(1)	1						c.(655-657)GGC>GGT		coiled-coil domain containing 22							22.0	15.0	18.0					X																	49099871		2200	4293	6493	SO:0001819	synonymous_variant	28952							g.chrX:49099871C>T	BC000972	CCDS14322.1	Xp11.23	2008-02-05	2005-07-24	2005-07-24	ENSG00000101997	ENSG00000101997			28909	protein-coding gene	gene with protein product		300859	"""chromosome X open reading frame 37"""	CXorf37		12477932	Standard	NM_014008		Approved	JM1	uc004dnd.2	O60826	OTTHUMG00000024141	ENST00000376227.3:c.657C>T	X.37:g.49099871C>T						CCDC22_uc011mna.1_Silent_p.G219G|CCDC22_uc004dnc.1_RNA	p.G219G	NM_014008	NP_054727	O60826	CCD22_HUMAN			6	813	+			219					A8K7G1	Silent	SNP	ENST00000376227.3	37	c.657C>T	CCDS14322.1																																																																																				0.682	CCDC22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060822.1	NM_014008		7	13	0	0	0	0	7	13				
GAGE10	643832	broad.mit.edu	37	X	49173663	49173663	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:49173663G>C	ENST00000407599.3	+	4	317	c.224G>C	c.(223-225)aGc>aCc	p.S75T		NM_001098413.2	NP_001091883.2	A6NGK3	GAG10_HUMAN	G antigen 10	75								p.S75I(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	Ovarian(276;0.236)					GAAGCTGATAGCCAGGAACAG	0.423																																						uc010nir.1		NA																	1	Substitution - Missense(1)		breast(1)		0						c.(223-225)AGC>ACC		G antigen 10							112.0	113.0	113.0					X																	49173663		2203	4300	6503	SO:0001583	missense	643832							g.chrX:49173663G>C			Xp11.23	2010-06-03			ENSG00000215274	ENSG00000215274			30968	protein-coding gene	gene with protein product							Standard	XM_006710256		Approved	OTTHUMG00000024136	uc010nir.1	A6NGK3	OTTHUMG00000024136	ENST00000407599.3:c.224G>C	X.37:g.49173663G>C	ENSP00000385415:p.Ser75Thr					GAGE10_uc010nis.2_RNA	p.S75T	NM_001098413	NP_001091883	A6NGK3	GAG10_HUMAN			4	340	+	Ovarian(276;0.236)		75						Missense_Mutation	SNP	ENST00000407599.3	37	c.224G>C	CCDS43938.1	.	.	.	.	.	.	.	.	.	.	.	5.181	0.218951	0.09810	.	.	ENSG00000215274	ENST00000407599	T	0.10573	2.86	1.62	-3.24	0.05094	.	.	.	.	.	T	0.20901	0.0503	M	0.77103	2.36	0.09310	N	1	D	0.76494	0.999	D	0.83275	0.996	T	0.17018	-1.0383	9	0.18710	T	0.47	.	0.0345	0.00006	0.2537:0.219:0.2098:0.3175	.	75	A6NGK3	GAG10_HUMAN	T	75	ENSP00000385415:S75T	ENSP00000385415:S75T	S	+	2	0	GAGE10	49060607	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.287000	0.08388	-1.232000	0.02554	-0.571000	0.04153	AGC		0.423	GAGE10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060816.1	NM_001098413		68	152	0	0	0	0	68	152				
AKAP4	8852	broad.mit.edu	37	X	49958928	49958928	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:49958928C>A	ENST00000376056.2	-	5	559	c.409G>T	c.(409-411)Gaa>Taa	p.E137*	AKAP4_ENST00000376058.2_Nonsense_Mutation_p.E137*|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000358526.2_Nonsense_Mutation_p.E146*|AKAP4_ENST00000376064.3_Nonsense_Mutation_p.E137*					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CTGTGATATTCGCCCTCTGTG	0.448																																						uc004dow.1		NA																	0				kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	8						c.(436-438)GAA>TAA		A-kinase anchor protein 4 isoform 1							151.0	114.0	127.0					X																	49958928		2203	4300	6503	SO:0001587	stop_gained	8852				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	g.chrX:49958928C>A	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.409G>T	X.37:g.49958928C>A	ENSP00000365224:p.Glu137*					AKAP4_uc004dov.1_Nonsense_Mutation_p.E137*|AKAP4_uc010njp.1_5'UTR|AKAP4_uc004dou.1_Nonsense_Mutation_p.E137*	p.E146*	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN			5	560	-	Ovarian(276;0.236)		146	E -> D (in Ref. 2; AAC79433).					Nonsense_Mutation	SNP	ENST00000376056.2	37	c.436G>T	CCDS14330.1	.	.	.	.	.	.	.	.	.	.	C	6.449	0.451040	0.12223	.	.	ENSG00000147081	ENST00000376056;ENST00000376058;ENST00000358526;ENST00000376064;ENST00000448865;ENST00000437370	.	.	.	4.49	-0.813	0.10850	.	1.815030	0.03236	U	0.179683	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0953	8.4513	0.32873	0.0:0.6385:0.0:0.3615	.	.	.	.	X	137;137;146;137;137;137	.	.	E	-	1	0	AKAP4	49845668	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-0.699000	0.05087	-0.819000	0.04323	0.292000	0.19580	GAA		0.448	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		55	46	1	0	5.39e-20	7.79e-20	55	46				
IQSEC2	23096	broad.mit.edu	37	X	53276218	53276218	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:53276218G>A	ENST00000375368.5	-	7	2852	c.2652C>T	c.(2650-2652)gaC>gaT	p.D884D	IQSEC2_ENST00000375365.2_Silent_p.D689D|IQSEC2_ENST00000396435.3_Silent_p.D894D			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	884	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						GACTGTACATGTCGGTATTGA	0.517																																						uc004dsd.2		NA																	0				ovary(3)	3						c.(2680-2682)GAC>GAT		IQ motif and Sec7 domain 2 isoform1							184.0	118.0	140.0					X																	53276218		2203	4300	6503	SO:0001819	synonymous_variant	23096				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chrX:53276218G>A	AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"""mental retardation, X-linked 1 (non-dysmorphic)"""	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.2652C>T	X.37:g.53276218G>A						IQSEC2_uc004dsc.2_Silent_p.D689D	p.D894D	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN			8	2883	-			884			SEC7.		B3KT97|C7SDG1|O60275|Q5JUX1	Silent	SNP	ENST00000375368.5	37	c.2682C>T																																																																																					0.517	IQSEC2-201	KNOWN	basic	protein_coding	protein_coding		XM_291345		9	46	0	0	0	0	9	46				
RIBC1	158787	broad.mit.edu	37	X	53455483	53455483	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:53455483C>G	ENST00000375327.3	+	5	605	c.452C>G	c.(451-453)aCa>aGa	p.T151R	RIBC1_ENST00000457095.1_Missense_Mutation_p.T151R|RIBC1_ENST00000414955.2_Intron|RIBC1_ENST00000490702.1_3'UTR	NM_001031745.2	NP_001026915.1	Q8N443	RIBC1_HUMAN	RIB43A domain with coiled-coils 1	151										lung(2)	2						GACAGGGACACACGGCTGAGA	0.507																																						uc004dsk.2		NA																	0					0						c.(451-453)ACA>AGA		RIB43A domain with coiled-coils 1 isoform 1							70.0	54.0	59.0					X																	53455483		2203	4300	6503	SO:0001583	missense	158787							g.chrX:53455483C>G	AK057345	CCDS14353.1, CCDS35299.1, CCDS59168.1	Xp11.23	2006-04-12			ENSG00000158423	ENSG00000158423			26537	protein-coding gene	gene with protein product							Standard	NM_144968		Approved	FLJ32783	uc004dsk.4	Q8N443	OTTHUMG00000021615	ENST00000375327.3:c.452C>G	X.37:g.53455483C>G	ENSP00000364476:p.Thr151Arg					RIBC1_uc004dsj.1_Missense_Mutation_p.T151R|RIBC1_uc011mog.1_Intron	p.T151R	NM_001031745	NP_001026915	Q8N443	RIBC1_HUMAN			5	605	+			151					B4E297|E9PDU2|Q5H931|Q96A80	Missense_Mutation	SNP	ENST00000375327.3	37	c.452C>G	CCDS35299.1	.	.	.	.	.	.	.	.	.	.	C	4.736	0.136917	0.09032	.	.	ENSG00000158423	ENST00000329209;ENST00000457095;ENST00000375327	T;T;T	0.22336	1.96;1.96;1.96	5.18	1.24	0.21308	.	0.917900	0.09389	N	0.808894	T	0.18299	0.0439	L	0.60455	1.87	0.09310	N	1	P;P	0.47677	0.642;0.899	B;B	0.42422	0.253;0.387	T	0.15954	-1.0419	10	0.24483	T	0.36	-0.006	2.0207	0.03508	0.1353:0.4931:0.1298:0.2418	.	151;151	Q8N443;Q8N443-2	RIBC1_HUMAN;.	R	151	ENSP00000332142:T151R;ENSP00000402080:T151R;ENSP00000364476:T151R	ENSP00000332142:T151R	T	+	2	0	RIBC1	53472208	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.565000	0.05929	0.097000	0.17492	-0.192000	0.12808	ACA		0.507	RIBC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056762.1	NM_144968		14	18	0	0	0	0	14	18				
HUWE1	10075	broad.mit.edu	37	X	53658553	53658553	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:53658553G>C	ENST00000342160.3	-	9	1116	c.659C>G	c.(658-660)aCa>aGa	p.T220R	HUWE1_ENST00000262854.6_Missense_Mutation_p.T220R|HUWE1_ENST00000218328.8_Missense_Mutation_p.T220R			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	220					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ATAATGTAGTGTGTTACTAGT	0.378																																						uc004dsp.2		NA																	0				ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(658-660)ACA>AGA		HECT, UBA and WWE domain containing 1							88.0	86.0	87.0					X																	53658553		2201	4300	6501	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53658553G>C	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.659C>G	X.37:g.53658553G>C	ENSP00000340648:p.Thr220Arg						p.T220R	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			10	1061	-			220					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.659C>G	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.803841	0.31869	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328	T;T;T	0.43688	1.26;1.26;0.94	4.86	4.86	0.63082	E3 ubiquitin ligase, domain of unknown function DUF908 (1);Armadillo-type fold (1);	0.130811	0.49916	D	0.000135	T	0.31263	0.0791	N	0.19112	0.55	0.58432	D	0.999999	P	0.34864	0.473	B	0.34991	0.193	T	0.18681	-1.0329	10	0.48119	T	0.1	.	15.8226	0.78667	0.0:0.0:1.0:0.0	.	220	Q7Z6Z7	HUWE1_HUMAN	R	220	ENSP00000340648:T220R;ENSP00000262854:T220R;ENSP00000218328:T220R	ENSP00000218328:T220R	T	-	2	0	HUWE1	53675278	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.064000	0.93933	2.247000	0.74100	0.600000	0.82982	ACA		0.378	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		18	63	0	0	0	0	18	63				
AMER1	139285	broad.mit.edu	37	X	63413127	63413127	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:63413127C>T	ENST00000330258.3	-	2	312	c.40G>A	c.(40-42)Gct>Act	p.A14T	AMER1_ENST00000374869.3_Missense_Mutation_p.A14T|AMER1_ENST00000403336.1_Missense_Mutation_p.A14T	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	14					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									GAGGCTGCAGCTCCCTTGGCC	0.557																																						uc004dvo.2		NA																	67	Whole gene deletion(67)	p.0?(40)	kidney(65)|ovary(1)|large_intestine(1)	kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						c.(40-42)GCT>ACT		family with sequence similarity 123B							155.0	127.0	136.0					X																	63413127		2203	4300	6503	SO:0001583	missense	139285				Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		g.chrX:63413127C>T	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.40G>A	X.37:g.63413127C>T	ENSP00000329117:p.Ala14Thr						p.A14T	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN			2	313	-			14					A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	c.40G>A	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	C	3.927	-0.016928	0.07681	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.46063	0.88;0.88;0.88	4.59	-0.776	0.10984	.	1.164620	0.06145	N	0.673143	T	0.21062	0.0507	N	0.17082	0.46	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.16041	-1.0416	10	0.20519	T	0.43	3.3978	0.4463	0.00494	0.3589:0.2401:0.1231:0.2779	.	14	Q5JTC6	F123B_HUMAN	T	14	ENSP00000364003:A14T;ENSP00000329117:A14T;ENSP00000384722:A14T	ENSP00000329117:A14T	A	-	1	0	FAM123B	63329852	0.000000	0.05858	0.001000	0.08648	0.055000	0.15305	-0.766000	0.04725	-0.297000	0.08934	0.600000	0.82982	GCT		0.557	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		20	88	0	0	0	0	20	88				
MSN	4478	broad.mit.edu	37	X	64957172	64957172	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:64957172G>T	ENST00000360270.5	+	10	1395	c.1223G>T	c.(1222-1224)cGg>cTg	p.R408L		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	408					cellular component movement (GO:0006928)|establishment of endothelial barrier (GO:0061028)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|regulation of lymphocyte migration (GO:2000401)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|uropod (GO:0001931)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|structural constituent of cytoskeleton (GO:0005200)		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						CAGGCCTCCCGGGACCAGAAA	0.542			T	ALK	ALCL																																	uc004dwf.2		NA		Dom	yes		X	Xq11.2-q12	4478	T	moesin			L	ALK		ALCL	MSN/ALK(6)	0				haematopoietic_and_lymphoid_tissue(6)|ovary(3)|lung(1)	10						c.(1222-1224)CGG>CTG		moesin							25.0	24.0	24.0					X																	64957172		2203	4300	6503	SO:0001583	missense	4478				leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton	g.chrX:64957172G>T	M69066	CCDS14382.1	Xq11.1	2010-10-20			ENSG00000147065	ENSG00000147065			7373	protein-coding gene	gene with protein product		309845				1924289, 7628534	Standard	XM_005262269		Approved		uc004dwf.3	P26038	OTTHUMG00000021723	ENST00000360270.5:c.1223G>T	X.37:g.64957172G>T	ENSP00000353408:p.Arg408Leu						p.R408L	NM_002444	NP_002435	P26038	MOES_HUMAN			10	1421	+			408						Missense_Mutation	SNP	ENST00000360270.5	37	c.1223G>T	CCDS14382.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.167648	0.38315	.	.	ENSG00000147065	ENST00000360270	D	0.86030	-2.06	4.97	1.26	0.21427	Ezrin/radixin/moesin, C-terminal (1);	0.475980	0.25132	N	0.032895	T	0.77150	0.4088	L	0.44542	1.39	0.24173	N	0.995616	B	0.02656	0.0	B	0.08055	0.003	T	0.65529	-0.6146	10	0.54805	T	0.06	.	8.2428	0.31671	0.5158:0.0:0.4842:0.0	.	408	P26038	MOES_HUMAN	L	408	ENSP00000353408:R408L	ENSP00000353408:R408L	R	+	2	0	MSN	64873897	0.994000	0.37717	0.141000	0.22245	0.962000	0.63368	2.031000	0.41117	-0.065000	0.13021	0.594000	0.82650	CGG		0.542	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056981.1	NM_002444		5	13	1	0	1.24e-05	1.41e-05	5	13				
ATRX	546	broad.mit.edu	37	X	76939151	76939151	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:76939151C>G	ENST00000373344.5	-	9	1811	c.1597G>C	c.(1597-1599)Gag>Cag	p.E533Q	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.E495Q	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	533					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ATAGCAGTCTCAAGATTCTCA	0.393			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.3		NA		Rec	yes		X	Xq21.1	546	Mis|F|N	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			Pancreatic neuroendocrine tumors		1	Unknown(1)		bone(1)	haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30						c.(1597-1599)GAG>CAG		transcriptional regulator ATRX isoform 1	Phosphatidylserine(DB00144)						179.0	184.0	182.0					X																	76939151		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76939151C>G	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1597G>C	X.37:g.76939151C>G	ENSP00000362441:p.Glu533Gln					ATRX_uc004ecq.3_Missense_Mutation_p.E495Q|ATRX_uc004eco.3_Missense_Mutation_p.E318Q|ATRX_uc004ecr.2_Missense_Mutation_p.E494Q|ATRX_uc010nlx.1_Missense_Mutation_p.E533Q|ATRX_uc010nly.1_Missense_Mutation_p.E478Q	p.E533Q	NM_000489	NP_000480	P46100	ATRX_HUMAN			9	1829	-			533					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.1597G>C	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	c	13.06	2.124644	0.37533	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.94931	-3.52;-3.56	5.21	5.21	0.72293	.	0.000000	0.85682	U	0.000000	D	0.96824	0.8963	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;0.998;0.997	D;D;D;D	0.80764	0.986;0.982;0.994;0.986	D	0.97279	0.9916	10	0.62326	D	0.03	-12.4024	16.7854	0.85573	0.0:1.0:0.0:0.0	.	533;494;495;533	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	Q	533;495;489	ENSP00000362441:E533Q;ENSP00000378967:E495Q	ENSP00000362441:E533Q	E	-	1	0	ATRX	76825807	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.766000	0.74970	2.168000	0.68352	0.496000	0.49642	GAG		0.393	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		159	124	0	0	0	0	159	124				
KLHL4	56062	broad.mit.edu	37	X	86919890	86919890	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:86919890G>A	ENST00000373119.4	+	10	2197	c.2052G>A	c.(2050-2052)ttG>ttA	p.L684L	KLHL4_ENST00000373114.4_Silent_p.L684L	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	684						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						ATACTTATTTGAACACAGTTG	0.383																																						uc004efb.2		NA																	0				ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(2050-2052)TTG>TTA		kelch-like 4 isoform 1							155.0	107.0	124.0					X																	86919890		2203	4300	6503	SO:0001819	synonymous_variant	56062					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86919890G>A	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.2052G>A	X.37:g.86919890G>A						KLHL4_uc004efa.2_Silent_p.L684L	p.L684L	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN			10	2234	+			684			Kelch 6.		B2RTW2|Q9Y3J5	Silent	SNP	ENST00000373119.4	37	c.2052G>A	CCDS14457.1																																																																																				0.383	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			23	18	0	0	0	0	23	18				
PCDH11X	27328	broad.mit.edu	37	X	91133291	91133292	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:91133291_91133292GG>TT	ENST00000373094.1	+	2	2897_2898	c.2052_2053GG>TT	c.(2050-2055)ttGGtt>ttTTtt	p.684_685LV>FF	PCDH11X_ENST00000395337.2_Missense_Mutation_p.684_685LV>FF|PCDH11X_ENST00000298274.8_Missense_Mutation_p.684_685LV>FF|PCDH11X_ENST00000361724.1_Missense_Mutation_p.684_685LV>FF|PCDH11X_ENST00000406881.1_Missense_Mutation_p.684_685LV>FF|PCDH11X_ENST00000361655.2_Missense_Mutation_p.684_685LV>FF|PCDH11X_ENST00000373097.1_Missense_Mutation_p.684_685LV>FF|PCDH11X_ENST00000373088.1_Missense_Mutation_p.684_685LV>FF|PCDH11X_ENST00000504220.2_Missense_Mutation_p.684_685LV>FF	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	684	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V685L(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTTATGAATTGGTTCTACCGTC	0.426																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1		NA																	3	Substitution - Missense(3)		lung(3)	large_intestine(2)	2						c.(2050-2055)TTGGTT>TTTTTT		protocadherin 11 X-linked isoform c																																				SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91133291_91133292GG>TT	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	Exception_encountered	X.37:g.91133291_91133292delinsTT	ENSP00000362186:p.L684_V685delinsFF					PCDH11X_uc004efl.1_Missense_Mutation_p.684_685LV>FF|PCDH11X_uc004efo.1_Missense_Mutation_p.684_685LV>FF|PCDH11X_uc010nmv.1_Missense_Mutation_p.684_685LV>FF|PCDH11X_uc004efm.1_Missense_Mutation_p.684_685LV>FF|PCDH11X_uc004efn.1_Missense_Mutation_p.684_685LV>FF|PCDH11X_uc004efh.1_Missense_Mutation_p.684_685LV>FF|PCDH11X_uc004efj.1_Missense_Mutation_p.684_685LV>FF	p.684_685LV>FF	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			2	2897_2898	+			684_685			Cadherin 7.|Extracellular (Potential).		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	DNP	ENST00000373094.1	37	c.2052_2053GG>TT	CCDS14461.1																																																																																				0.426	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		73	53	0	0	0	0	73	53				
TEX13A	56157	broad.mit.edu	37	X	104463830	104463830	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:104463830G>T	ENST00000413579.1	-	5	1157	c.1046C>A	c.(1045-1047)cCc>cAc	p.P349H	TEX13A_ENST00000372575.1_Missense_Mutation_p.P350T|IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372578.3_Missense_Mutation_p.P350T			Q9BXU3	TX13A_HUMAN	testis expressed 13A	349							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						TATTCTGTGGGGCCCCCCATC	0.567																																						uc004ema.2		NA																	0				ovary(2)	2						c.(1045-1047)CCC>CAC		testis expressed sequence 13A							119.0	109.0	112.0					X																	104463830		2101	4220	6321	SO:0001583	missense	56157					intracellular	zinc ion binding	g.chrX:104463830G>T	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"""testis expressed sequence 13A"""			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.1046C>A	X.37:g.104463830G>T	ENSP00000399753:p.Pro349His					IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.2_Missense_Mutation_p.P350T	p.P349H	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN			5	1158	-			349					B1B1G8|Q32NB6	Missense_Mutation	SNP	ENST00000413579.1	37	c.1046C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.240|8.240	0.806607|0.806607	0.16467|0.16467	.|.	.|.	ENSG00000133149|ENSG00000133149	ENST00000413579|ENST00000372578;ENST00000372575	.|.	.|.	.|.	3.41|3.41	-0.211|-0.211	0.13172|0.13172	.|.	.|.	.|.	.|.	.|.	T|T	0.13243|0.13243	0.0321|0.0321	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	P|.	0.36944|.	0.574|.	B|.	0.29353|.	0.101|.	T|T	0.24440|0.24440	-1.0160|-1.0160	8|6	0.42905|0.87932	T|D	0.14|0	.|.	0.662|0.662	0.00844|0.00844	0.1955:0.2123:0.3721:0.2201|0.1955:0.2123:0.3721:0.2201	.|.	349|.	Q9BXU3|.	TX13A_HUMAN|.	H|T	349|350	.|.	ENSP00000399753:P349H|ENSP00000361656:P350T	P|P	-|-	2|1	0|0	TEX13A|TEX13A	104350486|104350486	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.309000|-0.309000	0.08145|0.08145	-0.140000|-0.140000	0.11394|0.11394	-1.500000|-1.500000	0.00958|0.00958	CCC|CCC		0.567	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274		46	26	1	0	5.34e-22	7.83e-22	46	26				
DCX	1641	broad.mit.edu	37	X	110654066	110654066	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:110654066A>G	ENST00000338081.3	-	1	308	c.137T>C	c.(136-138)gTt>gCt	p.V46A	DCX_ENST00000371993.2_Intron|DCX_ENST00000356220.3_Intron|DCX_ENST00000488120.1_Intron|DCX_ENST00000356915.2_Intron|DCX_ENST00000496551.1_Intron	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	46					axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						CACATGACTAACAGTTGTAAA	0.428																																						uc004epd.2		NA																	0				central_nervous_system(2)|lung(1)|skin(1)	4						c.(136-138)GTT>GCT		doublecortin isoform a							209.0	183.0	192.0					X																	110654066		2203	4300	6503	SO:0001583	missense	1641				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	g.chrX:110654066A>G	AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"""doublecortex"""	300121	"""doublecortex; lissencephaly, X-linked (doublecortin)"""			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.137T>C	X.37:g.110654066A>G	ENSP00000337697:p.Val46Ala					DCX_uc011msv.1_Missense_Mutation_p.V46A|DCX_uc004epe.2_Intron|DCX_uc004epf.2_Intron|DCX_uc004epg.2_Intron	p.V46A	NM_000555	NP_000546	O43602	DCX_HUMAN			1	309	-			46					A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Missense_Mutation	SNP	ENST00000338081.3	37	c.137T>C	CCDS14556.1	.	.	.	.	.	.	.	.	.	.	a	12.00	1.807771	0.31961	.	.	ENSG00000077279	ENST00000338081	T	0.28069	1.63	4.4	3.23	0.37069	.	0.205119	0.24409	N	0.038771	T	0.15435	0.0372	N	0.08118	0	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.04737	-1.0930	10	0.87932	D	0	.	8.229	0.31587	0.9056:0.0:0.0944:0.0	.	34;46	B4DM53;O43602	.;DCX_HUMAN	A	46	ENSP00000337697:V46A	ENSP00000337697:V46A	V	-	2	0	DCX	110540722	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.822000	0.39052	0.812000	0.34326	0.411000	0.27672	GTT		0.428	DCX-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357058.1	NM_178153		107	64	0	0	0	0	107	64				
TRPC5	7224	broad.mit.edu	37	X	111090412	111090412	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:111090412T>A	ENST00000262839.2	-	6	2548	c.1630A>T	c.(1630-1632)Acc>Tcc	p.T544S		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	544					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ATAGCTCTGGTTTCATAATAG	0.433																																						uc004epl.1		NA																	0				urinary_tract(1)	1						c.(1630-1632)ACC>TCC		transient receptor potential cation channel,							149.0	129.0	136.0					X																	111090412		2203	4300	6503	SO:0001583	missense	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111090412T>A	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.1630A>T	X.37:g.111090412T>A	ENSP00000262839:p.Thr544Ser					TRPC5_uc004epm.1_Missense_Mutation_p.T544S	p.T544S	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN			6	2549	-			544			Extracellular (Potential).		B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	37	c.1630A>T	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	T	16.60	3.168762	0.57584	.	.	ENSG00000072315	ENST00000262839	D	0.98419	-4.92	5.16	5.16	0.70880	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.94621	0.8266	N	0.17723	0.515	0.80722	D	1	B;B	0.29085	0.016;0.232	B;B	0.32393	0.05;0.145	D	0.93202	0.6592	10	0.10111	T	0.7	-11.9885	14.1527	0.65398	0.0:0.0:0.0:1.0	.	545;544	Q59G51;Q9UL62	.;TRPC5_HUMAN	S	544	ENSP00000262839:T544S	ENSP00000262839:T544S	T	-	1	0	TRPC5	110977068	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.997000	0.88414	1.720000	0.51447	0.356000	0.21956	ACC		0.433	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		54	36	0	0	0	0	54	36				
ARHGAP36	158763	broad.mit.edu	37	X	130220339	130220339	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:130220339G>T	ENST00000276211.5	+	10	1663	c.1318G>T	c.(1318-1320)Gtg>Ttg	p.V440L	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.V304L|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.V428L	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	440					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TGCTAAGCGCGTGTGGAAGTC	0.453																																						uc004evz.2		NA																	0				ovary(3)	3						c.(1318-1320)GTG>TTG		hypothetical protein LOC158763 precursor							103.0	95.0	98.0					X																	130220339		2203	4300	6503	SO:0001583	missense	158763				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chrX:130220339G>T		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.1318G>T	X.37:g.130220339G>T	ENSP00000276211:p.Val440Leu					ARHGAP36_uc004ewa.2_Missense_Mutation_p.V428L|ARHGAP36_uc004ewb.2_Missense_Mutation_p.V409L|ARHGAP36_uc004ewc.2_Missense_Mutation_p.V304L	p.V440L	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN			10	1663	+			440					B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	c.1318G>T	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	G	0.411	-0.913460	0.02415	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000412432;ENST00000370921	T;T;T;T	0.08807	3.14;3.15;3.16;3.05	4.69	2.77	0.32553	.	0.000000	0.40818	N	0.001014	T	0.05686	0.0149	N	0.08118	0	0.33121	D	0.54177	D;D;D	0.58620	0.983;0.983;0.971	P;P;P	0.57057	0.812;0.812;0.654	T	0.22695	-1.0209	10	0.02654	T	1	.	4.9255	0.13891	0.1197:0.2135:0.6668:0.0	.	409;428;440	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	L	440;428;409;304	ENSP00000276211:V440L;ENSP00000359960:V428L;ENSP00000408515:V409L;ENSP00000359959:V304L	ENSP00000276211:V440L	V	+	1	0	ARHGAP36	130048020	1.000000	0.71417	0.995000	0.50966	0.076000	0.17211	2.435000	0.44811	1.081000	0.41110	0.600000	0.82982	GTG		0.453	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		27	27	1	0	2.08e-15	2.87e-15	27	27				
GPR112	139378	broad.mit.edu	37	X	135429618	135429618	+	Silent	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:135429618C>A	ENST00000394143.1	+	6	4044	c.3753C>A	c.(3751-3753)acC>acA	p.T1251T	GPR112_ENST00000370652.1_Silent_p.T1251T|GPR112_ENST00000287534.4_Silent_p.T1188T|GPR112_ENST00000412101.1_Silent_p.T1046T|GPR112_ENST00000394141.1_Silent_p.T1046T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1251					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TGACTAGCACCTCTGTCTTAT	0.433																																						uc004ezu.1		NA																	0				ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(3751-3753)ACC>ACA		G-protein coupled receptor 112							193.0	162.0	173.0					X																	135429618		2203	4300	6503	SO:0001819	synonymous_variant	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135429618C>A	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.3753C>A	X.37:g.135429618C>A						GPR112_uc010nsb.1_Silent_p.T1046T|GPR112_uc010nsc.1_Silent_p.T1018T	p.T1251T	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			6	4044	+	Acute lymphoblastic leukemia(192;0.000127)		1251			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	ENST00000394143.1	37	c.3753C>A	CCDS35409.1																																																																																				0.433	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			16	123	1	0	0.00498961	0.00526838	16	123				
GPR112	139378	broad.mit.edu	37	X	135431250	135431250	+	Silent	SNP	T	T	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:135431250T>G	ENST00000394143.1	+	6	5676	c.5385T>G	c.(5383-5385)acT>acG	p.T1795T	GPR112_ENST00000370652.1_Silent_p.T1795T|GPR112_ENST00000287534.4_Silent_p.T1732T|GPR112_ENST00000412101.1_Silent_p.T1590T|GPR112_ENST00000394141.1_Silent_p.T1590T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1795					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTTCTAATACTAGAAAGATGA	0.398																																						uc004ezu.1		NA																	0				ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(5383-5385)ACT>ACG		G-protein coupled receptor 112							126.0	126.0	126.0					X																	135431250		2202	4300	6502	SO:0001819	synonymous_variant	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135431250T>G	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.5385T>G	X.37:g.135431250T>G						GPR112_uc010nsb.1_Silent_p.T1590T|GPR112_uc010nsc.1_Silent_p.T1562T	p.T1795T	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			6	5676	+	Acute lymphoblastic leukemia(192;0.000127)		1795			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	ENST00000394143.1	37	c.5385T>G	CCDS35409.1																																																																																				0.398	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			31	111	0	0	0	0	31	111				
BRS3	680	broad.mit.edu	37	X	135574475	135574475	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:135574475G>A	ENST00000370648.3	+	3	1369	c.1141G>A	c.(1141-1143)Gaa>Aaa	p.E381K		NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	381					adult feeding behavior (GO:0008343)|glucose metabolic process (GO:0006006)|regulation of blood pressure (GO:0008217)	integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					ACAGATGTCTGAAATTAGTGT	0.542																																						uc004ezv.1		NA																	0				ovary(1)	1						c.(1141-1143)GAA>AAA		bombesin-like receptor 3							79.0	70.0	73.0					X																	135574475		2203	4300	6503	SO:0001583	missense	680				adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity	g.chrX:135574475G>A		CCDS14656.1	Xq26.3	2014-02-21			ENSG00000102239	ENSG00000102239		"""GPCR / Class A : Bombesin receptors"""	1113	protein-coding gene	gene with protein product		300107				8383682	Standard	NM_001727		Approved	BB3	uc004ezv.1	P32247	OTTHUMG00000022726	ENST00000370648.3:c.1141G>A	X.37:g.135574475G>A	ENSP00000359682:p.Glu381Lys						p.E381K	NM_001727	NP_001718	P32247	BRS3_HUMAN			3	1290	+	Acute lymphoblastic leukemia(192;0.000127)		381			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000370648.3	37	c.1141G>A	CCDS14656.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.216387	0.58452	.	.	ENSG00000102239	ENST00000370648	T	0.63580	-0.05	5.44	5.44	0.79542	.	0.284047	0.30752	N	0.008949	T	0.64832	0.2634	M	0.61703	1.905	0.48511	D	0.999661	P	0.52842	0.956	P	0.47528	0.549	T	0.62492	-0.6843	10	0.11485	T	0.65	-5.7871	18.3088	0.90192	0.0:0.0:1.0:0.0	.	381	P32247	BRS3_HUMAN	K	381	ENSP00000359682:E381K	ENSP00000359682:E381K	E	+	1	0	BRS3	135402141	1.000000	0.71417	0.992000	0.48379	0.071000	0.16799	6.629000	0.74267	2.262000	0.75019	0.513000	0.50165	GAA		0.542	BRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059005.1	NM_001727		13	77	0	0	0	0	13	77				
RAB39B	116442	broad.mit.edu	37	X	154493403	154493403	+	Silent	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:154493403G>C	ENST00000369454.3	-	1	471	c.171C>G	c.(169-171)cgC>cgG	p.R57R		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	57				R -> T (in Ref. 1; AAL12244). {ECO:0000305}.	protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|synapse organization (GO:0050808)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTP binding (GO:0005525)|myosin V binding (GO:0031489)			breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GGAGCTTGATGCGTTTTCCTG	0.622																																						uc004fne.2		NA																	0					0						c.(169-171)CGC>CGG		RAB39B, member RAS oncogene family							82.0	68.0	72.0					X																	154493403		2203	4300	6503	SO:0001819	synonymous_variant	116442				protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding	g.chrX:154493403G>C	AY052478	CCDS14766.1	Xq28	2014-01-31			ENSG00000155961	ENSG00000155961		"""RAB, member RAS oncogene"""	16499	protein-coding gene	gene with protein product		300774	"""mental retardation, X-linked 72"""	MRX72		12438742, 20159109	Standard	NM_171998		Approved		uc004fne.3	Q96DA2	OTTHUMG00000022659	ENST00000369454.3:c.171C>G	X.37:g.154493403G>C							p.R57R	NM_171998	NP_741995	Q96DA2	RB39B_HUMAN			1	450	-	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		57	R -> T (in Ref. 1; AAL12244).				Q5JT79|Q8NEX3	Silent	SNP	ENST00000369454.3	37	c.171C>G	CCDS14766.1																																																																																				0.622	RAB39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058792.1	NM_171998		34	24	0	0	0	0	34	24				
CNST	163882	broad.mit.edu	37	1	246784843	246784844	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:246784843_246784844insGC	ENST00000366513.4	+	3	761_762	c.492_493insGC	c.(493-495)gcgfs	p.A165fs	CNST_ENST00000366512.3_Frame_Shift_Ins_p.A165fs|CNST_ENST00000483271.1_3'UTR	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	165					negative regulation of phosphatase activity (GO:0010923)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	connexin binding (GO:0071253)|phosphatase binding (GO:0019902)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						AGCAGCCAGAGGCGCCAAAGCT	0.441																																						uc001ibp.2		NA																	0					0						c.(490-495)GAGGCGfs		hypothetical protein LOC163882 isoform 1																																				SO:0001589	frameshift_variant	163882				positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding	g.chr1:246784843_246784844insGC	AK056563	CCDS1628.1, CCDS44343.1	1q44	2012-04-17	2009-11-03	2009-11-03	ENSG00000162852	ENSG00000162852		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26486	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 64"""	613439	"""chromosome 1 open reading frame 71"""	C1orf71		19864490	Standard	NM_152609		Approved	FLJ32001, PPP1R64	uc001ibp.3	Q6PJW8	OTTHUMG00000040090	ENST00000366513.4:c.495_496dupGC	1.37:g.246784846_246784847dupGC	ENSP00000355470:p.Ala165fs					CNST_uc001ibo.3_Frame_Shift_Ins_p.E164fs	p.E164fs	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN			3	870_871	+			164_165					Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Frame_Shift_Ins	INS	ENST00000366513.4	37	c.492_493insGC	CCDS1628.1																																																																																				0.441	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096780.1	NM_152609		134	214	NA	NA	NA	NA	134	214	---	---	---	---
OR2T12	127064	broad.mit.edu	37	1	248458101	248458101	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:248458101delG	ENST00000317996.1	-	1	779	c.780delC	c.(778-780)cccfs	p.P260fs		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			TGTGGGATTTGGGTCTCATAT	0.483																																						uc010pzj.1		NA																	0				skin(2)|ovary(1)	3						c.(778-780)CCCfs		olfactory receptor, family 2, subfamily T,							119.0	119.0	119.0					1																	248458101		2203	4300	6503	SO:0001589	frameshift_variant	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248458101delG	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.780delC	1.37:g.248458101delG	ENSP00000324583:p.Pro260fs						p.P260fs	NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		1	780	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		260			Extracellular (Potential).			Frame_Shift_Del	DEL	ENST00000317996.1	37	c.780delC	CCDS31110.1																																																																																				0.483	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		52	96	NA	NA	NA	NA	52	96	---	---	---	---
NET1	10276	broad.mit.edu	37	10	5498668	5498668	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr10:5498668delC	ENST00000355029.4	+	12	1644	c.1502delC	c.(1501-1503)gccfs	p.A501fs	NET1_ENST00000380359.3_Frame_Shift_Del_p.A447fs|NET1_ENST00000542715.1_Frame_Shift_Del_p.A320fs	NM_001047160.2	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	501	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|myoblast migration (GO:0051451)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.F503fs*9(1)|p.F449fs*9(1)		breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						GCGGCCATTGCCCCCTTCCAG	0.602																																						uc001iia.2		NA																	2	Insertion - Frameshift(2)		large_intestine(2)	breast(1)	1						c.(1501-1503)GCCfs		neuroepithelial cell transforming gene 1 isoform							66.0	63.0	64.0					10																	5498668		2203	4300	6503	SO:0001589	frameshift_variant	10276				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity	g.chr10:5498668delC	AJ010046	CCDS7067.1, CCDS41483.1	10p15	2013-01-10	2008-09-12		ENSG00000173848	ENSG00000173848		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14592	protein-coding gene	gene with protein product		606450				8649828	Standard	NR_073040		Approved	ARHGEF8, NET1A	uc001iia.4	Q7Z628	OTTHUMG00000017596	ENST00000355029.4:c.1502delC	10.37:g.5498668delC	ENSP00000347134:p.Ala501fs					NET1_uc010qar.1_Frame_Shift_Del_p.A320fs|NET1_uc001iib.2_Frame_Shift_Del_p.A447fs|NET1_uc010qas.1_Frame_Shift_Del_p.A320fs	p.A501fs	NM_001047160	NP_001040625	Q7Z628	ARHG8_HUMAN			12	1640	+			501			PH.		Q12773|Q96D82|Q99903|Q9UEN6	Frame_Shift_Del	DEL	ENST00000355029.4	37	c.1502delC	CCDS41483.1																																																																																				0.602	NET1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046553.3	NM_005863		42	25	NA	NA	NA	NA	42	25	---	---	---	---
MRGPRX3	117195	broad.mit.edu	37	11	18158862	18158862	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:18158862delC	ENST00000396275.2	+	3	474	c.113delC	c.(112-114)tccfs	p.S38fs		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	38						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TGCATCGTTTCCCTTGTCGCG	0.592																																						uc001mnu.2		NA																	0				ovary(1)|pancreas(1)	2						c.(112-114)TCCfs		MAS-related GPR, member X3							150.0	145.0	147.0					11																	18158862		2200	4293	6493	SO:0001589	frameshift_variant	117195					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18158862delC		CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"""GPCR / Class A : Orphans"""	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.113delC	11.37:g.18158862delC	ENSP00000379571:p.Ser38fs						p.S38fs	NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN			3	474	+			38			Helical; Name=1; (Potential).		B0M0L1|Q8TDE0|Q8TDE1	Frame_Shift_Del	DEL	ENST00000396275.2	37	c.113delC	CCDS7830.1																																																																																				0.592	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	NM_054031		78	164	NA	NA	NA	NA	78	164	---	---	---	---
MCF2L	23263	broad.mit.edu	37	13	113729415	113729415	+	Frame_Shift_Del	DEL	G	G	-	rs367959410	byFrequency	TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr13:113729415delG	ENST00000375608.3	+	12	1368	c.1310delG	c.(1309-1311)cggfs	p.R437fs	MCF2L_ENST00000434480.2_Frame_Shift_Del_p.R413fs|MCF2L_ENST00000535094.2_Frame_Shift_Del_p.R407fs|MCF2L_ENST00000375597.4_Frame_Shift_Del_p.R405fs|MCF2L_ENST00000442652.2_Frame_Shift_Del_p.R437fs|MCF2L_ENST00000375601.3_Frame_Shift_Del_p.R411fs|MCF2L_ENST00000421756.1_Frame_Shift_Del_p.R411fs|MCF2L_ENST00000397030.1_Frame_Shift_Del_p.R440fs|MCF2L_ENST00000375604.2_Frame_Shift_Del_p.R464fs|MCF2L_ENST00000423482.2_Frame_Shift_Del_p.R405fs			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	437					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CAGGAGCTCCGGCACCTCTGT	0.667																																						uc001vsu.2		NA																	0				ovary(1)|kidney(1)	2						c.(1390-1392)CGGfs		MCF.2 cell line derived transforming							58.0	66.0	63.0					13																	113729415		2203	4300	6503	SO:0001589	frameshift_variant	23263				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113729415delG	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.1310delG	13.37:g.113729415delG	ENSP00000364758:p.Arg437fs					MCF2L_uc001vsq.2_Frame_Shift_Del_p.R464fs|MCF2L_uc010tjr.1_Frame_Shift_Del_p.R407fs|MCF2L_uc001vsr.2_Frame_Shift_Del_p.R411fs|MCF2L_uc001vss.3_Frame_Shift_Del_p.R405fs|MCF2L_uc010tjs.1_Frame_Shift_Del_p.R405fs|MCF2L_uc001vst.1_Frame_Shift_Del_p.R369fs	p.R464fs	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN			11	1413	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	437			Spectrin.		A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Frame_Shift_Del	DEL	ENST00000375608.3	37	c.1391delG																																																																																					0.667	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			45	26	NA	NA	NA	NA	45	26	---	---	---	---
EFS	10278	broad.mit.edu	37	14	23826490	23826491	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr14:23826490_23826491delTC	ENST00000216733.3	-	6	2237_2238	c.1630_1631delGA	c.(1630-1632)gaafs	p.E544fs	EFS_ENST00000351354.3_Frame_Shift_Del_p.E451fs|EFS_ENST00000429593.2_Frame_Shift_Del_p.E375fs|RP11-124D2.3_ENST00000554010.1_RNA	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	544					cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		CCCTGCCAGTTCTGTTACACAC	0.619																																						uc001wjo.2		NA																	0				large_intestine(1)	1						c.(1630-1632)GAAfs		embryonal Fyn-associated substrate isoform 1																																				SO:0001589	frameshift_variant	10278				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding	g.chr14:23826490_23826491delTC	AB001466	CCDS9595.1, CCDS9596.1, CCDS61404.1	14q11.2-q12	2011-04-13			ENSG00000100842	ENSG00000100842		"""Cas scaffolding proteins"""	16898	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 3"""	609906				9349509	Standard	NM_005864		Approved	EFS2, EFS1, HEFS, SIN, CASS3	uc001wjo.4	O43281	OTTHUMG00000028741	ENST00000216733.3:c.1630_1631delGA	14.37:g.23826490_23826491delTC	ENSP00000216733:p.Glu544fs					EFS_uc001wjp.2_Frame_Shift_Del_p.E451fs|EFS_uc010tnm.1_Frame_Shift_Del_p.E375fs	p.E544fs	NM_005864	NP_005855	O43281	EFS_HUMAN		GBM - Glioblastoma multiforme(265;0.00649)	6	2238_2239	-	all_cancers(95;7.12e-06)		544					B2RAJ7|B4DJ56|E9PGU2|O43282	Frame_Shift_Del	DEL	ENST00000216733.3	37	c.1630_1631delGA	CCDS9595.1																																																																																				0.619	EFS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071770.2			26	127	NA	NA	NA	NA	26	127	---	---	---	---
MYH4	4622	broad.mit.edu	37	17	10351938	10351938	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:10351938delG	ENST00000255381.2	-	32	4638	c.4528delC	c.(4528-4530)caafs	p.Q1511fs	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1511					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GACTCACGTTGTAAGTTCTTA	0.378																																						uc002gmn.2		NA																	0				ovary(10)|skin(2)|central_nervous_system(1)	13						c.(4528-4530)CAAfs		myosin, heavy polypeptide 4, skeletal muscle							100.0	101.0	100.0					17																	10351938		2203	4300	6503	SO:0001589	frameshift_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10351938delG		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.4528delC	17.37:g.10351938delG	ENSP00000255381:p.Gln1511fs					uc002gml.1_Intron	p.Q1510fs	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			32	4639	-			1510			Potential.			Frame_Shift_Del	DEL	ENST00000255381.2	37	c.4528delC	CCDS11154.1																																																																																				0.378	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		44	93	NA	NA	NA	NA	44	93	---	---	---	---
DPY19L3	147991	broad.mit.edu	37	19	32954307	32954307	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:32954307delA	ENST00000342179.5	+	13	1573	c.1358delA	c.(1357-1359)gaafs	p.E453fs	DPY19L3_ENST00000392250.2_Frame_Shift_Del_p.E453fs|DPY19L3_ENST00000586987.1_Frame_Shift_Del_p.E453fs|DPY19L3_ENST00000590651.1_3'UTR	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	453						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					GGTAAAATGGAAAAAGGCACA	0.333																																						uc002ntg.2		NA																	0				ovary(4)	4						c.(1357-1359)GAAfs		dpy-19-like 3							150.0	130.0	137.0					19																	32954307		2203	4300	6503	SO:0001589	frameshift_variant	147991					integral to membrane		g.chr19:32954307delA		CCDS12422.1	19q13.11	2008-02-05				ENSG00000178904			27120	protein-coding gene	gene with protein product		613894					Standard	NM_207325		Approved		uc002ntg.3	Q6ZPD9		ENST00000342179.5:c.1358delA	19.37:g.32954307delA	ENSP00000344937:p.Glu453fs					DPY19L3_uc002nth.1_Frame_Shift_Del_p.E453fs|DPY19L3_uc002nti.1_RNA	p.E453fs	NM_207325	NP_997208	Q6ZPD9	D19L3_HUMAN			13	1534	+	Esophageal squamous(110;0.162)		453					Q68DC7|Q6ZTB7|Q6ZTS2	Frame_Shift_Del	DEL	ENST00000342179.5	37	c.1358delA	CCDS12422.1																																																																																				0.333	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450311.1	NM_207325		46	60	NA	NA	NA	NA	46	60	---	---	---	---
SIGLEC14	100049587	broad.mit.edu	37	19	52149112	52149112	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:52149112delC	ENST00000360844.6	-	3	664	c.623delG	c.(622-624)ggcfs	p.G208fs	SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000534261.2_5'Flank|SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000429354.3_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	208	Ig-like C2-type 1.				cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.G208A(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		GAGGTTGGTGCCATGGTCCTC	0.637																																						uc002pxf.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(622-624)GGCfs		sialic acid binding Ig-like lectin 14 precursor							61.0	58.0	59.0					19																	52149112		2064	4192	6256	SO:0001589	frameshift_variant	100049587				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding	g.chr19:52149112delC	AY854038	CCDS42604.1	19q13.41	2013-01-29			ENSG00000254415	ENSG00000254415		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32926	protein-coding gene	gene with protein product						17012248	Standard	NM_001098612		Approved		uc002pxf.4	Q08ET2	OTTHUMG00000165511	ENST00000360844.6:c.623delG	19.37:g.52149112delC	ENSP00000354090:p.Gly208fs						p.G208fs	NM_001098612	NP_001092082	Q08ET2	SIG14_HUMAN		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)	3	743	-		all_neural(266;0.0299)	208			Ig-like C2-type 1.|Extracellular (Potential).		Q6UXG0	Frame_Shift_Del	DEL	ENST00000360844.6	37	c.623delG	CCDS42604.1																																																																																				0.637	SIGLEC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466899.2	NM_001098612		35	54	NA	NA	NA	NA	35	54	---	---	---	---
RAB22A	57403	broad.mit.edu	37	20	56929251	56929254	+	Frame_Shift_Del	DEL	TATT	TATT	-			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr20:56929251_56929254delTATT	ENST00000244040.3	+	6	698_701	c.417_420delTATT	c.(415-420)tctattfs	p.SI139fs		NM_020673.2	NP_065724.1	Q9UL26	RB22A_HUMAN	RAB22A, member RAS oncogene family	139					endocytosis (GO:0006897)|endosome organization (GO:0007032)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(1)|large_intestine(2)|pancreas(1)	6	all_epithelial(3;5.09e-14)|Lung NSC(12;0.000122)|all_lung(29;0.00042)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;4.73e-08)|all cancers(14;4.83e-07)			ACGCCGACTCTATTCATGCAATTT	0.402																																						uc002xyz.2		NA																	0					0						c.(415-420)TCTATTfs		RAS-related protein RAB-22A																																				SO:0001589	frameshift_variant	57403				endocytosis|endosome organization|protein transport|small GTPase mediated signal transduction	early endosome|endosome membrane|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr20:56929251_56929254delTATT	AF091034	CCDS33497.1	20q13	2008-07-03			ENSG00000124209	ENSG00000124209		"""RAB, member RAS oncogene"""	9764	protein-coding gene	gene with protein product		612966					Standard	NM_020673		Approved		uc002xyz.3	Q9UL26	OTTHUMG00000032844	ENST00000244040.3:c.417_420delTATT	20.37:g.56929251_56929254delTATT	ENSP00000244040:p.Ser139fs						p.S139fs	NM_020673	NP_065724	Q9UL26	RB22A_HUMAN	BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;4.73e-08)|all cancers(14;4.83e-07)		6	679_682	+	all_epithelial(3;5.09e-14)|Lung NSC(12;0.000122)|all_lung(29;0.00042)		139_140					B3KR86|E1P605|Q8TF12|Q9H4E6	Frame_Shift_Del	DEL	ENST00000244040.3	37	c.417_420delTATT	CCDS33497.1																																																																																				0.402	RAB22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079880.2			16	27	NA	NA	NA	NA	16	27	---	---	---	---
DOPEY2	9980	broad.mit.edu	37	21	37586451	37586452	+	Frame_Shift_Ins	INS	-	-	T	rs147590869	byFrequency	TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr21:37586451_37586452insT	ENST00000399151.3	+	8	1062_1063	c.977_978insT	c.(976-981)tattttfs	p.YF326fs	RN7SL73P_ENST00000585239.1_RNA	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	326					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CAGTCGTCTTATTTTTTTGAAA	0.396																																						uc002yvg.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(976-978)TATfs		pad-1-like																																				SO:0001589	frameshift_variant	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37586451_37586452insT	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.984dupT	21.37:g.37586458_37586458dupT	ENSP00000382104:p.Tyr326fs					DOPEY2_uc011aeb.1_Frame_Shift_Ins_p.Y326fs	p.Y326fs	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN			8	1056_1057	+			326					D3DSG5|Q6PJQ7|Q9UEZ3	Frame_Shift_Ins	INS	ENST00000399151.3	37	c.977_978insT	CCDS13643.1																																																																																				0.396	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		13	99	NA	NA	NA	NA	13	99	---	---	---	---
KRTAP10-9	386676	broad.mit.edu	37	21	46047615	46047615	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr21:46047615delC	ENST00000397911.3	+	1	576	c.527delC	c.(526-528)tccfs	p.S176fs	KRTAP10-9_ENST00000484861.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	176	25 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						TGCACTTCCTCCCCCTGCCAG	0.587																																						uc002zfp.3		NA																	0					0						c.(526-528)TCCfs		keratin associated protein 10-9							230.0	245.0	240.0					21																	46047615		2203	4300	6503	SO:0001589	frameshift_variant	386676					keratin filament		g.chr21:46047615delC	AJ566386	CCDS42961.1	21q22.3	2007-10-05			ENSG00000221837	ENSG00000221837		"""Keratin associated proteins"""	22971	protein-coding gene	gene with protein product				KRTAP18-9			Standard	NM_198690		Approved	KAP10.9, KAP18.9	uc002zfp.4	P60411	OTTHUMG00000057637	ENST00000397911.3:c.527delC	21.37:g.46047615delC	ENSP00000381009:p.Ser176fs					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.S176fs	NM_198690	NP_941963	P60411	KR109_HUMAN			1	576	+			176			16.|25 X 5 AA repeats of C-C-X(3).		A2RRG1|A6NIR9|Q70LJ1	Frame_Shift_Del	DEL	ENST00000397911.3	37	c.527delC	CCDS42961.1																																																																																				0.587	KRTAP10-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128040.1			97	252	NA	NA	NA	NA	97	252	---	---	---	---
MICAL3	57553	broad.mit.edu	37	22	18300912	18300912	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr22:18300912delG	ENST00000441493.2	-	26	4867	c.4515delC	c.(4513-4515)cccfs	p.P1505fs	MICAL3_ENST00000580469.1_5'Flank	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1505	Pro-rich.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CCTCCTCTCTGGGGGGCTGAG	0.652																																						uc002zng.3		NA																	0					0						c.(4513-4515)CCCfs		microtubule associated monoxygenase, calponin							23.0	22.0	23.0					22																	18300912		1945	4124	6069	SO:0001589	frameshift_variant	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18300912delG	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.4515delC	22.37:g.18300912delG	ENSP00000416015:p.Pro1505fs					MICAL3_uc011agl.1_Frame_Shift_Del_p.P1421fs|MICAL3_uc010gre.1_5'Flank	p.P1505fs	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	26	4868	-		all_epithelial(15;0.198)	1505			Pro-rich.		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Frame_Shift_Del	DEL	ENST00000441493.2	37	c.4515delC	CCDS46659.1																																																																																				0.652	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			10	10	NA	NA	NA	NA	10	10	---	---	---	---
TFDP2	7029	broad.mit.edu	37	3	141682777	141682777	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:141682777delC	ENST00000489671.1	-	10	1191	c.761delG	c.(760-762)agafs	p.R254fs	TFDP2_ENST00000499676.2_Frame_Shift_Del_p.R194fs|TFDP2_ENST00000486111.1_Frame_Shift_Del_p.R194fs|TFDP2_ENST00000467072.1_Frame_Shift_Del_p.R194fs|TFDP2_ENST00000495310.1_Frame_Shift_Del_p.R157fs|TFDP2_ENST00000310282.6_Frame_Shift_Del_p.R194fs|TFDP2_ENST00000479040.1_Frame_Shift_Del_p.R193fs|TFDP2_ENST00000317104.7_Frame_Shift_Del_p.R178fs|TFDP2_ENST00000397991.4_Frame_Shift_Del_p.R226fs|TFDP2_ENST00000477292.1_Frame_Shift_Del_p.R118fs			Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)	254	DCB1.|Dimerization. {ECO:0000255}.				gene expression (GO:0010467)|heart development (GO:0007507)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			kidney(1)|upper_aerodigestive_tract(2)	3						TTGTCGATTTCTCTGTACCAG	0.368																																						uc003eun.3		NA																	0				kidney(1)	1						c.(760-762)AGAfs		transcription factor Dp-2 (E2F dimerization							137.0	131.0	133.0					3																	141682777		1828	4083	5911	SO:0001589	frameshift_variant	7029				cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding	g.chr3:141682777delC	U18422	CCDS43159.1, CCDS54647.1, CCDS54648.1, CCDS54649.1, CCDS54650.1	3q23	2011-05-24			ENSG00000114126	ENSG00000114126			11751	protein-coding gene	gene with protein product		602160				7784053, 9027491	Standard	NM_001178138		Approved	Dp-2	uc003eun.4	Q14188	OTTHUMG00000164975	ENST00000489671.1:c.761delG	3.37:g.141682777delC	ENSP00000420616:p.Arg254fs					TFDP2_uc003euk.3_Frame_Shift_Del_p.R167fs|TFDP2_uc010hur.2_Frame_Shift_Del_p.R194fs|TFDP2_uc003eul.3_Frame_Shift_Del_p.R194fs|TFDP2_uc011bnf.1_Frame_Shift_Del_p.R157fs|TFDP2_uc011bng.1_Frame_Shift_Del_p.R118fs|TFDP2_uc003eum.3_Frame_Shift_Del_p.R194fs	p.R254fs	NM_006286	NP_006277	Q14188	TFDP2_HUMAN			10	1140	-			254			Dimerization (Potential).|DCB1.		B7Z8C8|B7Z8L5|D3DNG1|E9PFC3|F8WAI2|Q13331|Q14187|Q6R754|Q8WU88|Q9UG28	Frame_Shift_Del	DEL	ENST00000489671.1	37	c.761delG	CCDS54650.1																																																																																				0.368	TFDP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353294.4	NM_006286		47	64	NA	NA	NA	NA	47	64	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187629115	187629116	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr4:187629115_187629116delCC	ENST00000441802.2	-	2	2075_2076	c.1866_1867delGG	c.(1864-1869)ggggtafs	p.V623fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	623	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AATGACAATACCCCCGAGTTGG	0.426										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(1864-1869)GGGGTAfs		FAT tumor suppressor 1 precursor																																				SO:0001589	frameshift_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187629115_187629116delCC	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.1866_1867delGG	4.37:g.187629117_187629118delCC	ENSP00000406229:p.Val623fs	HNSCC(5;0.00058)				FAT1_uc010iso.1_Frame_Shift_Del_p.G622fs	p.G622fs	NM_005245	NP_005236	Q14517	FAT1_HUMAN			2	2054_2055	-			622_623			Extracellular (Potential).|Cadherin 5.			Frame_Shift_Del	DEL	ENST00000441802.2	37	c.1866_1867delGG	CCDS47177.1																																																																																				0.426	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		29	27	NA	NA	NA	NA	29	27	---	---	---	---
GPRC6A	222545	broad.mit.edu	37	6	117130668	117130668	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:117130668delA	ENST00000310357.3	-	2	328	c.307delT	c.(307-309)tgtfs	p.C103fs	GPRC6A_ENST00000368549.3_Frame_Shift_Del_p.C103fs|GPRC6A_ENST00000530250.1_Frame_Shift_Del_p.C103fs	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	103					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)		ACTTCTGTACAAGTGTCATAG	0.408																																						uc003pxj.1		NA																	0				ovary(4)|skin(2)	6						c.(307-309)TGTfs		G protein-coupled receptor, family C, group 6,							101.0	93.0	96.0					6																	117130668		2203	4300	6503	SO:0001589	frameshift_variant	222545				response to amino acid stimulus		G-protein coupled receptor activity	g.chr6:117130668delA	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.307delT	6.37:g.117130668delA	ENSP00000309493:p.Cys103fs					GPRC6A_uc003pxk.1_Frame_Shift_Del_p.C103fs|GPRC6A_uc003pxl.1_Frame_Shift_Del_p.C103fs	p.C103fs	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)	2	329	-		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	103			Extracellular (Potential).		Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Frame_Shift_Del	DEL	ENST00000310357.3	37	c.307delT	CCDS5112.1																																																																																				0.408	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2			13	34	NA	NA	NA	NA	13	34	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77767550	77767550	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:77767550delC	ENST00000521891.2	+	10	8841	c.8393delC	c.(8392-8394)accfs	p.T2798fs	ZFHX4_ENST00000518282.1_Frame_Shift_Del_p.T2772fs|ZFHX4_ENST00000455469.2_Frame_Shift_Del_p.T2753fs|ZFHX4_ENST00000050961.6_Frame_Shift_Del_p.T2753fs	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2753					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAAAATAAAACCGATTTTGAT	0.438										HNSCC(33;0.089)																												uc003yav.2		NA																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(8257-8259)ACCfs		zinc finger homeodomain 4							37.0	36.0	36.0					8																	77767550		1916	4142	6058	SO:0001589	frameshift_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77767550delC		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.8393delC	8.37:g.77767550delC	ENSP00000430497:p.Thr2798fs	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Frame_Shift_Del_p.T2798fs|ZFHX4_uc003yaw.1_Frame_Shift_Del_p.T2753fs	p.T2753fs	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	8645	+			2753					G3V138|Q18PS0|Q6ZN20	Frame_Shift_Del	DEL	ENST00000521891.2	37	c.8258delC	CCDS47878.2																																																																																				0.438	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		24	21	NA	NA	NA	NA	24	21	---	---	---	---
KLHL4	56062	broad.mit.edu	37	X	86890748	86890754	+	Frame_Shift_Del	DEL	GCTCCAG	GCTCCAG	-			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:86890748_86890754delGCTCCAG	ENST00000373119.4	+	9	2043_2049	c.1898_1904delGCTCCAG	c.(1897-1905)tgctccaggfs	p.CSR633fs	KLHL4_ENST00000373114.4_Frame_Shift_Del_p.CSR633fs	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	633						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TCCAACCATTGCTCCAGGCTTTCTGAC	0.382																																						uc004efb.2		NA																	0				ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(1897-1905)TGCTCCAGGfs		kelch-like 4 isoform 1																																				SO:0001589	frameshift_variant	56062					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86890748_86890754delGCTCCAG	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.1898_1904delGCTCCAG	X.37:g.86890748_86890754delGCTCCAG	ENSP00000362211:p.Cys633fs					KLHL4_uc004efa.2_Frame_Shift_Del_p.C633fs	p.C633fs	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN			9	2080_2086	+			633_635			Kelch 5.		B2RTW2|Q9Y3J5	Frame_Shift_Del	DEL	ENST00000373119.4	37	c.1898_1904delGCTCCAG	CCDS14457.1																																																																																				0.382	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			11	22	NA	NA	NA	NA	11	22	---	---	---	---
DCX	1641	broad.mit.edu	37	X	110653517	110653517	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:110653517delA	ENST00000338081.3	-	2	524	c.353delT	c.(352-354)ttcfs	p.F118fs	DCX_ENST00000371993.2_Frame_Shift_Del_p.F37fs|DCX_ENST00000356220.3_Frame_Shift_Del_p.F37fs|DCX_ENST00000488120.1_Frame_Shift_Del_p.F37fs|DCX_ENST00000356915.2_Frame_Shift_Del_p.F37fs|DCX_ENST00000496551.1_5'UTR	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	118					axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						GGTTCGGTAGAAGCTACAGTG	0.512																																						uc004epd.2		NA																	0				central_nervous_system(2)|lung(1)|skin(1)	4						c.(352-354)TTCfs		doublecortin isoform a							205.0	167.0	180.0					X																	110653517		2203	4300	6503	SO:0001589	frameshift_variant	1641				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	g.chrX:110653517delA	AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"""doublecortex"""	300121	"""doublecortex; lissencephaly, X-linked (doublecortin)"""			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.353delT	X.37:g.110653517delA	ENSP00000337697:p.Phe118fs					DCX_uc011msv.1_Frame_Shift_Del_p.F118fs|DCX_uc004epe.2_Frame_Shift_Del_p.F37fs|DCX_uc004epf.2_Frame_Shift_Del_p.F37fs|DCX_uc004epg.2_Frame_Shift_Del_p.F37fs	p.F118fs	NM_000555	NP_000546	O43602	DCX_HUMAN			2	525	-			118					A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Frame_Shift_Del	DEL	ENST00000338081.3	37	c.353delT	CCDS14556.1																																																																																				0.512	DCX-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357058.1	NM_178153		55	47	NA	NA	NA	NA	55	47	---	---	---	---
