#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_ACHILLES_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	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
C1orf127	148345	broad.mit.edu	37	1	11008207	11008207	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr1:11008207G>A	ENST00000377008.4	-	11	1930	c.1484C>T	c.(1483-1485)gCg>gTg	p.A495V	C1orf127_ENST00000377004.4_Missense_Mutation_p.A662V			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127	495										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		GGCATCCCTCGCTGGCAGGAT	0.647																																							uc010oao.1		NA																	0				ovary(1)	1						c.(1537-1539)GCG>GTG		hypothetical protein LOC148345							40.0	45.0	43.0					1																	11008207		2203	4300	6503	SO:0001583	missense	148345							g.chr1:11008207G>A	AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.1484C>T	1.37:g.11008207G>A	ENSP00000366207:p.Ala495Val					C1orf127_uc001arr.1_Missense_Mutation_p.A495V|C1orf127_uc001ars.1_Missense_Mutation_p.A487V	p.A513V	NM_173507	NP_775778	B7ZLG7	B7ZLG7_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)	8	1543	-	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	513					A0AVG8|A6NKM7|Q5VXJ2	Missense_Mutation	SNP	ENST00000377008.4	37	c.1538C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.17|10.17	1.275392|1.275392	0.23307|0.23307	.|.	.|.	ENSG00000175262|ENSG00000175262	ENST00000377004;ENST00000377008|ENST00000418570;ENST00000520253	T;T|.	0.27720|.	1.66;1.65|.	4.32|4.32	-1.13|-1.13	0.09775|0.09775	.|.	0.731989|.	0.11238|.	N|.	0.584903|.	T|.	0.14874|.	0.0359|.	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B;B|.	0.27264|.	0.173;0.173;0.173|.	B;B;B|.	0.25614|.	0.062;0.062;0.062|.	T|.	0.27971|.	-1.0058|.	10|.	0.28530|.	T|.	0.3|.	-1.0743|-1.0743	4.9632|4.9632	0.14078|0.14078	0.1388:0.3705:0.4077:0.083|0.1388:0.3705:0.4077:0.083	.|.	513;487;495|.	B7ZLG7;Q8N9H9-2;Q8N9H9|.	.;.;CA127_HUMAN|.	V|X	662;495|497;614	ENSP00000366203:A662V;ENSP00000366207:A495V|.	ENSP00000366203:A662V|.	A|R	-|-	2|1	0|2	C1orf127|C1orf127	10930794|10930794	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	0.048000|0.048000	0.14078|0.14078	-0.320000|-0.320000	0.08640|0.08640	-0.877000|-0.877000	0.02976|0.02976	GCG|CGA		0.647	C1orf127-202	KNOWN	basic	protein_coding	protein_coding		NM_173507		13	58	0	0	0	0.00245	0	13	58				
INSRR	3645	broad.mit.edu	37	1	156816537	156816537	+	Silent	SNP	G	G	A	rs368851308		TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr1:156816537G>A	ENST00000368195.3	-	8	1980	c.1584C>T	c.(1582-1584)aaC>aaT	p.N528N	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	528	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCTCTGTGGCGTTCTGGAATG	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		17577	0.001		0.0	False		,,,				2504	0.0						uc010pht.1		NA																	0				lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20						c.(1582-1584)AAC>AAT		insulin receptor-related receptor precursor		G	,	1,4405	2.1+/-5.4	0,1,2202	46.0	42.0	43.0		,1584	2.6	1.0	1		43	0,8600		0,0,4300	no	intron,coding-synonymous	INSRR,NTRK1	NM_001007792.1,NM_014215.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	,528/1298	156816537	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156816537G>A	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.1584C>T	1.37:g.156816537G>A						NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	p.N528N	NM_014215	NP_055030	P14616	INSRR_HUMAN			8	1838	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		528			Fibronectin type-III 1.		O60724|Q5VZS3	Silent	SNP	ENST00000368195.3	37	c.1584C>T	CCDS1160.1																																																																																				0.617	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		6	41	0	0	0	0.001168	0	6	41				
MR1	3140	broad.mit.edu	37	1	181019198	181019198	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr1:181019198G>A	ENST00000367580.5	+	3	385	c.380G>A	c.(379-381)aGc>aAc	p.S127N	MR1_ENST00000438435.2_3'UTR|MR1_ENST00000282990.6_Missense_Mutation_p.S127N|MR1_ENST00000434571.2_Missense_Mutation_p.S127N|MR1_ENST00000367579.3_Intron	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	127	Alpha-2.|Ligand-binding.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	MHC class I receptor activity (GO:0032393)|peptide antigen binding (GO:0042605)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18					Antithymocyte globulin(DB00098)	GAGGATGGAAGCACCACAGGA	0.522																																					Colon(174;1412 1962 45296 46549 47110)	Colon(174;1412 1962 45296 46549 47110)	uc001goq.1		NA																	0				skin(1)	1						c.(379-381)AGC>AAC		major histocompatibility complex, class							111.0	102.0	105.0					1																	181019198		2203	4300	6503	SO:0001583	missense	3140				antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr1:181019198G>A	AF010446	CCDS1342.1, CCDS53440.1, CCDS53441.1, CCDS53442.1	1q25.3	2013-01-11	2003-03-05	2003-03-07	ENSG00000153029	ENSG00000153029		"""Immunoglobulin superfamily / C1-set domain containing"""	4975	protein-coding gene	gene with protein product		600764	"""major histocompatibility complex, class I-like sequence"""	HLALS		7624800, 9784382	Standard	NM_001194999		Approved		uc001goq.2	Q95460	OTTHUMG00000035175	ENST00000367580.5:c.380G>A	1.37:g.181019198G>A	ENSP00000356552:p.Ser127Asn					MR1_uc001gop.2_Missense_Mutation_p.S127N|MR1_uc001gor.1_Intron|MR1_uc001gos.1_Missense_Mutation_p.S127N|MR1_uc010pns.1_Missense_Mutation_p.S127N	p.S127N	NM_001531	NP_001522	Q95460	HMR1_HUMAN			3	385	+			127			Extracellular (Potential).|Ligand-binding.|Alpha-2.		A8K2V9|B4E3B1|O97985|O97986|Q53GM1|Q95HB8|Q9MY23|Q9NPL2|Q9TQB3|Q9TQB9|Q9TQK3	Missense_Mutation	SNP	ENST00000367580.5	37	c.380G>A	CCDS1342.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.288345	0.59976	.	.	ENSG00000153029	ENST00000434571;ENST00000367580;ENST00000282990	T;T;T	0.00012	9.29;9.29;9.29	4.38	2.47	0.30058	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.239924	0.37577	N	0.002027	T	0.00210	0.0006	L	0.41027	1.25	0.28910	N	0.892749	D;D;D;D	0.76494	0.997;0.998;0.999;0.998	D;D;D;D	0.83275	0.992;0.994;0.996;0.994	T	0.69480	-0.5134	9	0.87932	D	0	.	9.0867	0.36586	0.1853:0.0:0.8147:0.0	.	127;127;127;127	B4E3B1;Q95460-3;Q95460;Q95460-4	.;.;HMR1_HUMAN;.	N	127	ENSP00000388504:S127N;ENSP00000356552:S127N;ENSP00000282990:S127N	ENSP00000282990:S127N	S	+	2	0	MR1	179285821	0.011000	0.17503	0.693000	0.30195	0.818000	0.46254	0.626000	0.24492	0.575000	0.29434	0.460000	0.39030	AGC		0.522	MR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085134.2	NM_001531		3	86	0	0	0	0.004672	0	3	86				
LIN9	286826	broad.mit.edu	37	1	226421197	226421197	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr1:226421197C>T	ENST00000328205.5	-	13	1866	c.1321G>A	c.(1321-1323)Gca>Aca	p.A441T	LIN9_ENST00000481685.1_Missense_Mutation_p.A406T|LIN9_ENST00000366801.1_Missense_Mutation_p.A390T	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 DREAM MuvB core complex component	425					DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|transcriptional repressor complex (GO:0017053)				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		GGCTGATCTGCAGGCTGGAGC	0.483																																					Ovarian(197;1696 2974 11248 14117)	Ovarian(197;1696 2974 11248 14117)	uc001hqa.2		NA																	0					0						c.(1321-1323)GCA>ACA		lin-9 homolog							99.0	93.0	95.0					1																	226421197		2203	4300	6503	SO:0001583	missense	286826				cell cycle|DNA replication	nucleoplasm		g.chr1:226421197C>T	AY166858	CCDS1553.1	1q42	2014-07-17	2014-07-17		ENSG00000183814	ENSG00000183814			30830	protein-coding gene	gene with protein product	"""TUDOR gene similar"", ""rb related pathway actor"""	609375	"""lin-9 homolog (C. elegans)"""			15538385, 23667535	Standard	NM_173083		Approved	TGS	uc001hqa.3	Q5TKA1	OTTHUMG00000037557	ENST00000328205.5:c.1321G>A	1.37:g.226421197C>T	ENSP00000329102:p.Ala441Thr					LIN9_uc001hqb.2_Missense_Mutation_p.A406T|LIN9_uc001hqc.2_Missense_Mutation_p.A373T|LIN9_uc009xel.1_Missense_Mutation_p.A406T	p.A441T	NM_173083	NP_775106	Q5TKA1	LIN9_HUMAN		GBM - Glioblastoma multiforme(131;0.131)	13	1631	-	Breast(184;0.158)		425					Q5U5L8|Q5U7E1|Q6PI55|Q6ZTV4|Q7Z3J1	Missense_Mutation	SNP	ENST00000328205.5	37	c.1321G>A	CCDS1553.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.378790	0.82682	.	.	ENSG00000183814	ENST00000460719;ENST00000328205;ENST00000366808;ENST00000366801;ENST00000481685	.	.	.	5.64	5.64	0.86602	.	0.047095	0.85682	D	0.000000	T	0.49064	0.1535	L	0.40543	1.245	0.80722	D	1	B;B;P	0.40970	0.255;0.358;0.734	B;B;B	0.37731	0.034;0.05;0.257	T	0.44081	-0.9351	9	0.09843	T	0.71	.	19.6888	0.95989	0.0:1.0:0.0:0.0	.	406;425;575	C9J5J4;Q5TKA1;B1ANK3	.;LIN9_HUMAN;.	T	401;441;496;390;406	.	ENSP00000329102:A441T	A	-	1	0	LIN9	224487820	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.485000	0.66850	2.652000	0.90054	0.591000	0.81541	GCA		0.483	LIN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091523.2	NM_173083		16	97	0	0	0	0.003163	0	16	97				
ZNF488	118738	broad.mit.edu	37	10	48371096	48371096	+	Silent	SNP	C	C	T			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr10:48371096C>T	ENST00000395702.2	+	2	791	c.564C>T	c.(562-564)gcC>gcT	p.A188A	ZNF488_ENST00000494156.1_3'UTR|ZNF488_ENST00000586537.1_Silent_p.A81A			Q96MN9	ZN488_HUMAN	zinc finger protein 488	188					negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte development (GO:0014003)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						CTGCAGATGCCCTGGGGGAGC	0.537																																							uc001jex.2		NA																	0				ovary(1)	1						c.(562-564)GCC>GCT		zinc finger protein 488							90.0	88.0	89.0					10																	48371096		2203	4300	6503	SO:0001819	synonymous_variant	118738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:48371096C>T	AK056666	CCDS73120.1	10q11.22	2014-04-10			ENSG00000165388	ENSG00000265763		"""Zinc fingers, C2H2-type"""	23535	protein-coding gene	gene with protein product							Standard	NM_153034		Approved	FLJ32104	uc001jex.3	Q96MN9	OTTHUMG00000188322	ENST00000395702.2:c.564C>T	10.37:g.48371096C>T						ZNF488_uc001jey.2_Silent_p.A81A	p.A188A	NM_153034	NP_694579	Q96MN9	ZN488_HUMAN			2	726	+			188					Q05CE0	Silent	SNP	ENST00000395702.2	37	c.564C>T	CCDS7217.1																																																																																				0.537	ZNF488-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314632.1	NM_153034		8	58	0	0	0	0.004482	0	8	58				
UNC5B	219699	broad.mit.edu	37	10	73051404	73051404	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr10:73051404G>T	ENST00000335350.6	+	10	1926	c.1510G>T	c.(1510-1512)Ggg>Tgg	p.G504W	UNC5B_ENST00000373192.4_Missense_Mutation_p.G493W	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	504					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						TGACCTGCTGGGGGTCTTGCC	0.657																																							uc001jro.2		NA																	0				ovary(2)|lung(1)	3						c.(1510-1512)GGG>TGG		unc-5 homolog B precursor							52.0	53.0	53.0					10																	73051404		2203	4300	6503	SO:0001583	missense	219699				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		g.chr10:73051404G>T	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.1510G>T	10.37:g.73051404G>T	ENSP00000334329:p.Gly504Trp					UNC5B_uc001jrp.2_Missense_Mutation_p.G493W	p.G504W	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN			10	1955	+			504			Cytoplasmic (Potential).		Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	c.1510G>T	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	g	16.71	3.197612	0.58126	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.51071	0.78;0.72	4.24	4.24	0.50183	.	0.197530	0.44688	D	0.000423	T	0.67411	0.2890	M	0.68952	2.095	0.50313	D	0.999865	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.72956	-0.4134	10	0.87932	D	0	-16.6102	17.0247	0.86442	0.0:0.0:1.0:0.0	.	493;504	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	W	504;493	ENSP00000334329:G504W;ENSP00000362288:G493W	ENSP00000334329:G504W	G	+	1	0	UNC5B	72721410	1.000000	0.71417	0.953000	0.39169	0.403000	0.30841	5.601000	0.67606	2.081000	0.62600	0.556000	0.70494	GGG		0.657	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		28	85	1	0	5.61819e-17	0.005443	7.59381e-17	28	85				
ECD	11319	broad.mit.edu	37	10	74899220	74899220	+	Missense_Mutation	SNP	A	A	G	rs200978167		TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr10:74899220A>G	ENST00000372979.4	-	11	1474	c.1268T>C	c.(1267-1269)cTg>cCg	p.L423P	ECD_ENST00000454759.2_Missense_Mutation_p.L380P|ECD_ENST00000430082.2_Missense_Mutation_p.L456P	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	423					cell proliferation (GO:0008283)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of glycolytic process (GO:0006110)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					CAGCTGGTCCAGCTGATCTGG	0.453													A|||	1	0.000199681	0.0	0.0	5008	,	,		16901	0.0		0.001	False		,,,				2504	0.0						uc001jtn.2		NA																	0				pancreas(1)	1						c.(1267-1269)CTG>CCG		suppressor of S. cerevisiae gcr2 isoform 1							83.0	86.0	85.0					10																	74899220		2203	4300	6503	SO:0001583	missense	11319				regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity	g.chr10:74899220A>G	BC000721	CCDS7321.1, CCDS44433.1, CCDS44434.1	10q22.3	2006-02-07				ENSG00000122882			17029	protein-coding gene	gene with protein product						9928932, 15128659	Standard	NM_007265		Approved	hSGT1, GCR2	uc001jtn.3	O95905		ENST00000372979.4:c.1268T>C	10.37:g.74899220A>G	ENSP00000362070:p.Leu423Pro					ECD_uc009xqx.2_Missense_Mutation_p.L456P|ECD_uc009xqy.2_Missense_Mutation_p.L380P|ECD_uc001jto.2_Missense_Mutation_p.L122P	p.L423P	NM_007265	NP_009196	O95905	SGT1_HUMAN			11	1511	-	Prostate(51;0.0119)		423					C9JX46|E9PAW8	Missense_Mutation	SNP	ENST00000372979.4	37	c.1268T>C	CCDS7321.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	A	20.6	4.014349	0.75161	.	.	ENSG00000122882	ENST00000372979;ENST00000430082;ENST00000454759	T;T;T	0.39787	1.06;1.06;1.06	5.4	5.4	0.78164	.	0.067425	0.64402	D	0.000009	T	0.71584	0.3357	M	0.92317	3.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.79237	-0.1886	10	0.87932	D	0	-0.0563	13.3584	0.60642	1.0:0.0:0.0:0.0	.	380;456;423	E9PAW8;C9JX46;O95905	.;.;SGT1_HUMAN	P	423;456;380	ENSP00000362070:L423P;ENSP00000401566:L456P;ENSP00000395786:L380P	ENSP00000362070:L423P	L	-	2	0	ECD	74569226	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.248000	0.78268	2.037000	0.60232	0.383000	0.25322	CTG		0.453	ECD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048606.1	NM_007265		15	56	0	0	0	0.00499	0	15	56				
PI4K2A	55361	broad.mit.edu	37	10	99400513	99400513	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr10:99400513G>A	ENST00000370631.3	+	1	71	c.14G>A	c.(13-15)aGc>aAc	p.S5N	PI4K2A_ENST00000555577.1_Intron|PI4K2A_ENST00000370649.3_Intron	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	5					basophil degranulation (GO:0002561)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endosome (GO:0005768)|exocytic vesicle (GO:0070382)|Golgi apparatus (GO:0005794)|growing cell tip (GO:0035838)|host cell presynaptic membrane (GO:0044231)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|presynaptic membrane (GO:0042734)|protein complex (GO:0043234)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|AP-3 adaptor complex binding (GO:0035651)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		GACGAGACGAGCCCACTAGTG	0.736																																							uc001kog.1		NA																	0				lung(1)|skin(1)	2						c.(13-15)AGC>AAC		phosphatidylinositol 4-kinase type 2 alpha							12.0	14.0	13.0					10																	99400513		2170	4276	6446	SO:0001583	missense	55361				phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding	g.chr10:99400513G>A	AF070611	CCDS7469.1	10q24	2011-02-09			ENSG00000155252	ENSG00000155252			30031	protein-coding gene	gene with protein product		609763				11244087, 11279162	Standard	NM_018425		Approved	PI4KII, DKFZP761G1923, PIK42A	uc001kog.1	Q9BTU6	OTTHUMG00000018863	ENST00000370631.3:c.14G>A	10.37:g.99400513G>A	ENSP00000359665:p.Ser5Asn					PI4K2A_uc010qoy.1_Intron	p.S5N	NM_018425	NP_060895	Q9BTU6	P4K2A_HUMAN		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)	1	71	+		Colorectal(252;0.162)	5					D3DR59|Q9NSG8	Missense_Mutation	SNP	ENST00000370631.3	37	c.14G>A	CCDS7469.1	.	.	.	.	.	.	.	.	.	.	G	33	5.248732	0.95305	.	.	ENSG00000155252	ENST00000370631	.	.	.	4.26	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.66137	0.2759	L	0.38175	1.15	0.80722	D	1	D	0.57899	0.981	D	0.65140	0.932	T	0.70044	-0.4980	9	0.62326	D	0.03	-11.3506	16.4487	0.83972	0.0:0.0:1.0:0.0	.	5	Q9BTU6	P4K2A_HUMAN	N	5	.	ENSP00000359665:S5N	S	+	2	0	PI4K2A	99390503	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.582000	0.82546	2.214000	0.71695	0.462000	0.41574	AGC		0.736	PI4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049735.1	NM_018425		6	42	0	0	0	0.004482	0	6	42				
MUC5B	727897	broad.mit.edu	37	11	1272788	1272788	+	Missense_Mutation	SNP	C	C	T	rs190158159		TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr11:1272788C>T	ENST00000529681.1	+	31	14736	c.14678C>T	c.(14677-14679)aCg>aTg	p.T4893M	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.T4896M	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4893	Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACTGCCTCCACGGTTCCCAGC	0.662																																							uc009ycr.1		NA																	0					0						c.(15643-15645)ACG>ATG		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;		C	MET/THR	0,4316		0,0,2158	43.0	58.0	53.0		14678	-0.3	0.0	11		53	4,8484		0,4,4240	no	missense	MUC5B	NM_002458.2	81	0,4,6398	TT,TC,CC		0.0471,0.0,0.0312	probably-damaging	4893/5763	1272788	4,12800	2158	4244	6402	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1272788C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.14678C>T	11.37:g.1272788C>T	ENSP00000436812:p.Thr4893Met					MUC5B_uc001ltb.2_Missense_Mutation_p.T4896M	p.T5215M	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	52	15770	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	4893			Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.15644C>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	5.167	0.216364	0.09810	0.0	4.71E-4	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.17528	2.27;2.45	1.82	-0.336	0.12658	.	.	.	.	.	T	0.20170	0.0485	L	0.29908	0.895	0.09310	N	1	D;D	0.89917	1.0;1.0	P;P	0.58928	0.848;0.848	T	0.14392	-1.0474	9	0.87932	D	0	.	5.489	0.16765	0.0:0.6569:0.2053:0.1377	.	5215;4896	A7Y9J9;E9PBJ0	.;.	M	4893;4896;4837;4592	ENSP00000436812:T4893M;ENSP00000415793:T4896M	ENSP00000343037:T4837M	T	+	2	0	MUC5B	1229364	0.000000	0.05858	0.003000	0.11579	0.013000	0.08279	-0.389000	0.07342	-0.068000	0.12953	0.485000	0.47835	ACG		0.662	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		4	27	0	0	0	0.000602	0	4	27				
PDE3B	5140	broad.mit.edu	37	11	14666460	14666460	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr11:14666460G>A	ENST00000282096.4	+	1	1192	c.839G>A	c.(838-840)aGt>aAt	p.S280N	PSMA1_ENST00000418988.2_5'Flank|PDE3B_ENST00000455098.2_Missense_Mutation_p.S280N|PDE3B_ENST00000534317.1_3'UTR	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	280					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	CGACTGTCCAGTGCCGCCGAA	0.587																																							uc001mln.2		NA																	0					0						c.(838-840)AGT>AAT		phosphodiesterase 3B							44.0	51.0	49.0					11																	14666460		2200	4294	6494	SO:0001583	missense	5140				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding	g.chr11:14666460G>A	U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"""Phosphodiesterases"""	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.839G>A	11.37:g.14666460G>A	ENSP00000282096:p.Ser280Asn					PDE3B_uc001mlm.2_Missense_Mutation_p.S280N|PDE3B_uc010rcr.1_Missense_Mutation_p.S280N|PSMA1_uc001mll.2_5'Flank	p.S280N	NM_000922	NP_000913	Q13370	PDE3B_HUMAN			1	1192	+			280					B7ZM37|O00639|Q14408|Q6SEI4	Missense_Mutation	SNP	ENST00000282096.4	37	c.839G>A	CCDS7817.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.598372	0.46318	.	.	ENSG00000152270	ENST00000282096;ENST00000455098	T;T	0.62941	0.04;-0.01	4.1	4.1	0.47936	.	7739.210000	0.00166	N	0.000000	T	0.48370	0.1496	N	0.08118	0	0.25852	N	0.983926	P;P;P	0.48764	0.808;0.915;0.915	B;B;B	0.39465	0.225;0.3;0.3	T	0.57894	-0.7732	10	0.27082	T	0.32	.	16.1992	0.82057	0.0:0.0:1.0:0.0	.	280;280;280	B7ZM37;Q13370;A7E2E5	.;PDE3B_HUMAN;.	N	280	ENSP00000282096:S280N;ENSP00000388644:S280N	ENSP00000282096:S280N	S	+	2	0	PDE3B	14623036	0.778000	0.28640	0.183000	0.23137	0.510000	0.34073	2.517000	0.45529	2.238000	0.73509	0.557000	0.71058	AGT		0.587	PDE3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386974.1	NM_000922		17	56	0	0	0	0.006122	0	17	56				
KCNC1	3746	broad.mit.edu	37	11	17757663	17757663	+	Silent	SNP	G	G	A	rs200677353		TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr11:17757663G>A	ENST00000379472.3	+	1	144	c.114G>A	c.(112-114)gcG>gcA	p.A38A	KCNC1_ENST00000265969.6_Silent_p.A38A	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	38					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	CCTGGCTGGCGGAGCCCGACG	0.682																																							uc001mnk.3		NA																	0				upper_aerodigestive_tract(1)	1						c.(112-114)GCG>GCA		Shaw-related voltage-gated potassium channel		G	,	0,4378		0,0,2189	23.0	18.0	20.0		114,114	-8.8	0.6	11		20	2,8550		0,2,4274	no	coding-synonymous,coding-synonymous	KCNC1	NM_001112741.1,NM_004976.4	,	0,2,6463	AA,AG,GG		0.0234,0.0,0.0155	,	38/586,38/512	17757663	2,12928	2189	4276	6465	SO:0001819	synonymous_variant	3746					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:17757663G>A	M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.114G>A	11.37:g.17757663G>A						KCNC1_uc009yhc.1_Silent_p.A38A	p.A38A	NM_004976	NP_004967	P48547	KCNC1_HUMAN			1	169	+			38			Cytoplasmic (Potential).		K4DI87	Silent	SNP	ENST00000379472.3	37	c.114G>A	CCDS7827.1																																																																																				0.682	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	NM_004976		4	18	0	0	0	0.009096	0	4	18				
INPPL1	3636	broad.mit.edu	37	11	71949338	71949338	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr11:71949338G>T	ENST00000298229.2	+	28	3922	c.3718G>T	c.(3718-3720)Ggg>Tgg	p.G1240W	INPPL1_ENST00000541756.1_Missense_Mutation_p.G998W|PHOX2A_ENST00000544057.1_5'Flank|INPPL1_ENST00000538751.1_Missense_Mutation_p.G998W	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1240	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GGAGGAGGCTGGGGTGCAGGA	0.637											OREG0021191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001osf.2		NA																	0				skin(2)|ovary(1)|breast(1)	4						c.(3718-3720)GGG>TGG		inositol polyphosphate phosphatase-like 1							55.0	54.0	54.0					11																	71949338		2200	4293	6493	SO:0001583	missense	3636				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	g.chr11:71949338G>T	Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.3718G>T	11.37:g.71949338G>T	ENSP00000298229:p.Gly1240Trp		OREG0021191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1133	INPPL1_uc001osg.2_Missense_Mutation_p.G998W	p.G1240W	NM_001567	NP_001558	O15357	SHIP2_HUMAN			28	3865	+			1240			SAM.		B2RTX5|Q13577|Q13578	Missense_Mutation	SNP	ENST00000298229.2	37	c.3718G>T	CCDS8213.1	.	.	.	.	.	.	.	.	.	.	g	18.36	3.607750	0.66558	.	.	ENSG00000165458	ENST00000298229;ENST00000541756;ENST00000538751	T;T;T	0.63913	-0.07;-0.07;-0.07	4.84	4.84	0.62591	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.000000	0.64402	D	0.000002	D	0.84270	0.5435	M	0.93720	3.45	0.54753	D	0.999985	D	0.89917	1.0	D	0.91635	0.999	D	0.88625	0.3165	10	0.87932	D	0	.	16.6984	0.85342	0.0:0.0:1.0:0.0	.	1240	O15357	SHIP2_HUMAN	W	1240;998;998	ENSP00000298229:G1240W;ENSP00000446360:G998W;ENSP00000444619:G998W	ENSP00000298229:G1240W	G	+	1	0	INPPL1	71626986	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.259000	0.78381	2.503000	0.84419	0.591000	0.81541	GGG		0.637	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567		10	46	1	0	2.27111e-07	0.013537	2.82168e-07	10	46				
SPCS2	9789	broad.mit.edu	37	11	74676882	74676882	+	Silent	SNP	C	C	T			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr11:74676882C>T	ENST00000263672.6	+	3	312	c.273C>T	c.(271-273)tcC>tcT	p.S91S	SPCS2_ENST00000530257.1_Intron|SPCS2_ENST00000528265.1_Intron|RNU6-216P_ENST00000363282.1_RNA|SPCS2_ENST00000526361.1_Intron	NM_014752.2	NP_055567.2	Q15005	SPCS2_HUMAN	signal peptidase complex subunit 2 homolog (S. cerevisiae)	91					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|signal peptidase complex (GO:0005787)	peptidase activity (GO:0008233)			breast(1)	1						GTACAATCTCCTGTTTCTTTG	0.393																																							uc001ovu.2		NA																	0				breast(1)	1						c.(271-273)TCC>TCT		signal peptidase complex subunit 2 homolog							142.0	132.0	135.0					11																	74676882		1798	4039	5837	SO:0001819	synonymous_variant	9789				energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to membrane|microsome|signal peptidase complex	peptidase activity	g.chr11:74676882C>T	D14658	CCDS44681.1	11q13.4	2008-02-05			ENSG00000118363	ENSG00000118363			28962	protein-coding gene	gene with protein product						7788527	Standard	NM_014752		Approved	KIAA0102	uc001ovu.2	Q15005	OTTHUMG00000165517	ENST00000263672.6:c.273C>T	11.37:g.74676882C>T							p.S91S	NM_014752	NP_055567	Q15005	SPCS2_HUMAN			3	312	+			91			Helical; (Potential).		Q15507|Q3KQT0|Q641R4|Q6FG65|Q6IRX0|Q6P1P4|Q96HU9	Silent	SNP	ENST00000263672.6	37	c.273C>T	CCDS44681.1																																																																																				0.393	SPCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384587.1	NM_014752		9	52	0	0	0	0.004482	0	9	52				
CCDC90B	60492	broad.mit.edu	37	11	82972966	82972966	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr11:82972966C>G	ENST00000529689.1	-	9	1186	c.752G>C	c.(751-753)aGa>aCa	p.R251T	CCDC90B_ENST00000525503.1_Missense_Mutation_p.R150T|CCDC90B_ENST00000529611.1_Missense_Mutation_p.R150T|CCDC90B_ENST00000525504.1_5'UTR|CCDC90B_ENST00000455220.2_Missense_Mutation_p.R242T			Q9GZT6	CC90B_HUMAN	coiled-coil domain containing 90B	251						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Acute lymphoblastic leukemia(157;0.103)				CTTCCAGAATCTATAAAATCC	0.388																																							uc001pae.2		NA																	0					0						c.(751-753)AGA>ACA		coiled-coil domain containing 90B precursor							140.0	151.0	147.0					11																	82972966		2203	4300	6503	SO:0001583	missense	60492					integral to membrane|mitochondrion|mitochondrion		g.chr11:82972966C>G	BC048795	CCDS8266.1, CCDS66190.1, CCDS66191.1	11q14.1	2006-10-23			ENSG00000137500	ENSG00000137500			28108	protein-coding gene	gene with protein product						11230166	Standard	XM_005274154		Approved	MDS025, MDS011	uc001pae.3	Q9GZT6	OTTHUMG00000167078	ENST00000529689.1:c.752G>C	11.37:g.82972966C>G	ENSP00000434724:p.Arg251Thr					CCDC90B_uc001pac.2_Missense_Mutation_p.R150T|CCDC90B_uc001pad.2_Missense_Mutation_p.R150T|CCDC90B_uc001paf.2_Missense_Mutation_p.R242T	p.R251T	NM_021825	NP_068597	Q9GZT6	CC90B_HUMAN			9	1114	-		Acute lymphoblastic leukemia(157;0.103)	251			Helical; (Potential).		A8K8I4|B3KP87|B4E3L2|Q3B781|Q9GZU6	Missense_Mutation	SNP	ENST00000529689.1	37	c.752G>C	CCDS8266.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.210322	0.79240	.	.	ENSG00000137500	ENST00000529689;ENST00000455220;ENST00000525503;ENST00000529611	T;T;T;T	0.58797	0.31;0.31;0.31;0.31	5.39	5.39	0.77823	.	0.167742	0.46145	D	0.000304	T	0.74152	0.3679	M	0.87971	2.92	0.80722	D	1	D;D	0.58620	0.983;0.981	P;P	0.54590	0.536;0.756	T	0.78650	-0.2121	9	.	.	.	-7.9685	15.8681	0.79080	0.0:1.0:0.0:0.0	.	242;251	Q9GZT6-2;Q9GZT6	.;CC90B_HUMAN	T	251;242;150;150	ENSP00000434724:R251T;ENSP00000390990:R242T;ENSP00000431424:R150T;ENSP00000431345:R150T	.	R	-	2	0	CCDC90B	82650614	0.865000	0.29922	0.928000	0.36995	0.831000	0.47069	4.817000	0.62650	2.538000	0.85594	0.655000	0.94253	AGA		0.388	CCDC90B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392940.2	NM_021825		5	99	0	0	0	0.000602	0	5	99				
FLI1	2313	broad.mit.edu	37	11	128638032	128638032	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr11:128638032A>G	ENST00000527786.2	+	3	739	c.250A>G	c.(250-252)Agc>Ggc	p.S84G	FLI1_ENST00000281428.8_Missense_Mutation_p.S18G|FLI1_ENST00000344954.6_Missense_Mutation_p.S51G|FLI1_ENST00000534087.2_Missense_Mutation_p.S51G|FLI1_ENST00000525560.1_Intron	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	84					blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		GGTGGACTGCAGCGTTAGCAA	0.572			T	EWSR1	Ewing sarcoma																																		uc010sbu.1		NA		Dom	yes		11	11q24	2313	T	Friend leukemia virus integration 1			M	EWSR1		Ewing sarcoma	EWSR1/FLI1(2266)	0				bone(2210)|soft_tissue(48)|autonomic_ganglia(4)|central_nervous_system(4)|lung(3)|ovary(2)|pancreas(2)	2273						c.(250-252)AGC>GGC		Friend leukemia virus integration 1							70.0	71.0	71.0					11																	128638032		2061	4202	6263	SO:0001583	missense	2313				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:128638032A>G	M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"""Friend leukemia virus integration 1"""			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.250A>G	11.37:g.128638032A>G	ENSP00000433488:p.Ser84Gly					FLI1_uc010sbt.1_Intron|FLI1_uc010sbv.1_Missense_Mutation_p.S51G|FLI1_uc009zci.2_Missense_Mutation_p.S18G|FLI1_uc001qen.2_Missense_Mutation_p.S51G	p.S84G	NM_002017	NP_002008	Q01543	FLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)	3	591	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)	84					B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Missense_Mutation	SNP	ENST00000527786.2	37	c.250A>G	CCDS44768.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.048657	0.75846	.	.	ENSG00000151702	ENST00000344954;ENST00000429175;ENST00000534087;ENST00000281428	T;T;T;T	0.18338	2.31;2.22;2.31;2.27	5.19	5.19	0.71726	.	0.435856	0.28322	N	0.015763	T	0.32041	0.0816	L	0.49126	1.545	0.80722	D	1	D;P;D	0.69078	0.997;0.529;0.989	P;B;P	0.58660	0.843;0.263;0.744	T	0.03534	-1.1027	10	0.72032	D	0.01	.	15.0495	0.71854	1.0:0.0:0.0:0.0	.	84;18;51	Q01543;Q01543-2;B4DTC6	FLI1_HUMAN;.;.	G	51;84;51;18	ENSP00000339627:S51G;ENSP00000399985:S84G;ENSP00000432950:S51G;ENSP00000281428:S18G	ENSP00000281428:S18G	S	+	1	0	FLI1	128143242	1.000000	0.71417	0.994000	0.49952	0.501000	0.33797	9.339000	0.96797	1.954000	0.56735	0.533000	0.62120	AGC		0.572	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386226.2	NM_002017		5	13	0	0	0	0.001984	0	5	13				
CSRNP2	81566	broad.mit.edu	37	12	51457744	51457744	+	Missense_Mutation	SNP	A	A	C			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr12:51457744A>C	ENST00000228515.1	-	5	1714	c.1417T>G	c.(1417-1419)Tca>Gca	p.S473A		NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	473					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						CCCACCTCTGATTTACAGAGG	0.527																																							uc001rxu.1		NA																	0					0						c.(1417-1419)TCA>GCA		TGF-beta induced apoptosis protein 12							79.0	90.0	87.0					12																	51457744		2203	4300	6503	SO:0001583	missense	81566				apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:51457744A>C	AJ298133	CCDS8807.1	12q13.11-q13.12	2012-04-17	2009-01-07	2009-01-07				"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16006	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 72"""		"""chromosome 12 open reading frame 22"", ""family with sequence similarity 130, member A1"""	C12orf22, FAM130A1		17726538	Standard	NM_030809		Approved	C12ORF2, TAIP-12, PPP1R72	uc001rxu.2	Q9H175		ENST00000228515.1:c.1417T>G	12.37:g.51457744A>C	ENSP00000228515:p.Ser473Ala						p.S473A	NM_030809	NP_110436	Q9H175	CSRN2_HUMAN			5	1715	-			473						Missense_Mutation	SNP	ENST00000228515.1	37	c.1417T>G	CCDS8807.1	.	.	.	.	.	.	.	.	.	.	A	4.135	0.023450	0.08006	.	.	ENSG00000110925	ENST00000228515	T	0.40756	1.02	4.91	-1.7	0.08159	.	0.676955	0.14018	N	0.347019	T	0.16557	0.0398	N	0.08118	0	0.23724	N	0.997014	B	0.02656	0.0	B	0.01281	0.0	T	0.30297	-0.9983	10	0.10111	T	0.7	0.4484	7.1076	0.25372	0.3284:0.1594:0.5122:0.0	.	473	Q9H175	CSRN2_HUMAN	A	473	ENSP00000228515:S473A	ENSP00000228515:S473A	S	-	1	0	CSRNP2	49744011	0.213000	0.23551	0.960000	0.40013	0.993000	0.82548	-0.124000	0.10595	-0.135000	0.11495	0.454000	0.30748	TCA		0.527	CSRNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404893.1			23	73	0	0	0	0.014323	0	23	73				
LRP1	4035	broad.mit.edu	37	12	57605790	57605790	+	Nonsense_Mutation	SNP	C	C	T			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr12:57605790C>T	ENST00000243077.3	+	87	13805	c.13339C>T	c.(13339-13341)Cga>Tga	p.R4447*		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4447	Interaction with MAFB. {ECO:0000250}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GTATAAGCGGCGAGTCCAAGG	0.527																																							uc001snd.2		NA																	0				ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(13339-13341)CGA>TGA		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						159.0	145.0	150.0					12																	57605790		2203	4300	6503	SO:0001587	stop_gained	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57605790C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.13339C>T	12.37:g.57605790C>T	ENSP00000243077:p.Arg4447*						p.R4447*	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	87	13805	+			4447			Cytoplasmic (Potential).|Interaction with MAFB (By similarity).		Q2PP12|Q86SW0|Q8IVG8	Nonsense_Mutation	SNP	ENST00000243077.3	37	c.13339C>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	56	26.340577	0.99968	.	.	ENSG00000123384	ENST00000243077	.	.	.	5.12	5.12	0.69794	.	0.000000	0.46145	D	0.000314	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.3367	0.87283	0.0:1.0:0.0:0.0	.	.	.	.	X	4447	.	ENSP00000243077:R4447X	R	+	1	2	LRP1	55892057	0.998000	0.40836	1.000000	0.80357	0.960000	0.62799	1.575000	0.36493	2.382000	0.81193	0.561000	0.74099	CGA		0.527	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		8	84	0	0	0	0.00308	0	8	84				
DNAH10	196385	broad.mit.edu	37	12	124403278	124403278	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr12:124403278G>A	ENST00000409039.3	+	64	10959	c.10934G>A	c.(10933-10935)cGg>cAg	p.R3645Q		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3645					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)	p.R3645Q(1)|p.R2237Q(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GACAGGCTGCGGGATGGCTAC	0.572																																							uc001uft.3		NA																	2	Substitution - Missense(2)		large_intestine(2)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(10933-10935)CGG>CAG		dynein, axonemal, heavy chain 10							37.0	40.0	39.0					12																	124403278		1916	4125	6041	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124403278G>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.10934G>A	12.37:g.124403278G>A	ENSP00000386770:p.Arg3645Gln						p.R3645Q	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	64	10959	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		3645					C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.10934G>A	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	25.8	4.673619	0.88445	.	.	ENSG00000197653	ENST00000409039	T	0.54279	0.58	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.81536	0.4843	H	0.96269	3.795	0.80722	D	1	D	0.71674	0.998	D	0.65010	0.931	D	0.86111	0.1562	10	0.56958	D	0.05	.	20.0407	0.97588	0.0:0.0:1.0:0.0	.	3645	Q8IVF4	DYH10_HUMAN	Q	3645	ENSP00000386770:R3645Q	ENSP00000386770:R3645Q	R	+	2	0	DNAH10	122969231	1.000000	0.71417	0.991000	0.47740	0.233000	0.25261	9.869000	0.99810	2.746000	0.94184	0.561000	0.74099	CGG		0.572	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			7	21	0	0	0	0.00308	0	7	21				
SACS	26278	broad.mit.edu	37	13	23909353	23909353	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr13:23909353C>T	ENST00000382292.3	-	9	8935	c.8662G>A	c.(8662-8664)Gca>Aca	p.A2888T	SACS_ENST00000402364.1_Missense_Mutation_p.A2138T|SACS_ENST00000382298.3_Missense_Mutation_p.A2888T			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2888					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GAATCCAGTGCAAAGTGGCCA	0.448																																							uc001uon.2		NA																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(8662-8664)GCA>ACA		sacsin							66.0	66.0	66.0					13																	23909353		2203	4299	6502	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23909353C>T	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.8662G>A	13.37:g.23909353C>T	ENSP00000371729:p.Ala2888Thr					SACS_uc001uoo.2_Missense_Mutation_p.A2741T|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.A2888T	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	9251	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	2888					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.8662G>A	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	34	5.321753	0.95682	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.89415	-2.3;-2.51;-2.3	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.92922	0.7748	L	0.50333	1.59	0.51767	D	0.999938	D	0.89917	1.0	D	0.75484	0.986	D	0.92482	0.5993	10	0.46703	T	0.11	.	19.1639	0.93546	0.0:1.0:0.0:0.0	.	2888	Q9NZJ4	SACS_HUMAN	T	2888;2138;2888	ENSP00000371729:A2888T;ENSP00000385844:A2138T;ENSP00000371735:A2888T	ENSP00000371729:A2888T	A	-	1	0	SACS	22807353	1.000000	0.71417	0.995000	0.50966	0.977000	0.68977	7.487000	0.81328	2.525000	0.85131	0.555000	0.69702	GCA		0.448	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		5	22	0	0	0	0.001168	0	5	22				
CENPJ	55835	broad.mit.edu	37	13	25487104	25487104	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr13:25487104C>G	ENST00000381884.4	-	2	245	c.60G>C	c.(58-60)tgG>tgC	p.W20C	CENPJ_ENST00000545981.1_Missense_Mutation_p.W20C	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	20					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		GATTGGTCATCCACTGGGTTA	0.438																																							uc001upt.3		NA																	0				ovary(2)	2						c.(58-60)TGG>TGC		centromere protein J							64.0	56.0	59.0					13																	25487104		2203	4300	6503	SO:0001583	missense	55835				cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding	g.chr13:25487104C>G	AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"""centrosomal P4.1-associated protein"""	609279	"""microcephaly, primary autosomal recessive 6"""	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.60G>C	13.37:g.25487104C>G	ENSP00000371308:p.Trp20Cys					CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA	p.W20C	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)	2	313	-		Lung SC(185;0.0225)|Breast(139;0.0602)	20					Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	c.60G>C	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.684376	0.68157	.	.	ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729	T;T	0.16073	2.37;2.37	5.28	5.28	0.74379	.	0.000000	0.64402	D	0.000008	T	0.42200	0.1192	M	0.76574	2.34	0.52501	D	0.999953	D	0.89917	1.0	D	0.69307	0.963	T	0.34850	-0.9812	10	0.87932	D	0	.	15.8288	0.78736	0.0:1.0:0.0:0.0	.	20	Q9HC77	CENPJ_HUMAN	C	20	ENSP00000371308:W20C;ENSP00000441090:W20C	ENSP00000371308:W20C	W	-	3	0	CENPJ	24385104	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.432000	0.52824	2.479000	0.83701	0.655000	0.94253	TGG		0.438	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		6	45	0	0	0	0.006214	0	6	45				
ATP8A2	51761	broad.mit.edu	37	13	26273402	26273402	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr13:26273402C>A	ENST00000381655.2	+	25	2445	c.2303C>A	c.(2302-2304)aCc>aAc	p.T768N	ATP8A2_ENST00000255283.8_Missense_Mutation_p.T728N|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	728					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GATGGCCACACCCTGAAGTAC	0.547																																							uc001uqk.2		NA																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(2302-2304)ACC>AAC		ATPase, aminophospholipid transporter-like,							88.0	83.0	85.0					13																	26273402		1991	4162	6153	SO:0001583	missense	51761				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:26273402C>A	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.2303C>A	13.37:g.26273402C>A	ENSP00000371070:p.Thr768Asn					ATP8A2_uc010tdi.1_Missense_Mutation_p.T728N|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.T318N	p.T768N	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	25	2445	+		Breast(139;0.0201)|Lung SC(185;0.0225)	728			Cytoplasmic (Potential).		Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	c.2303C>A	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	C	32	5.108383	0.94292	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	D;D	0.88201	-2.35;-2.35	5.88	5.88	0.94601	HAD-like domain (1);	0.049674	0.85682	D	0.000000	D	0.95620	0.8576	M	0.88377	2.95	0.80722	D	1	D;D;D	0.67145	0.991;0.996;0.991	D;D;D	0.72625	0.97;0.949;0.978	D	0.95640	0.8697	10	0.87932	D	0	.	20.2228	0.98330	0.0:1.0:0.0:0.0	.	728;548;728	B7Z880;F5GZN5;Q9NTI2	.;.;AT8A2_HUMAN	N	768;728;548	ENSP00000371070:T768N;ENSP00000255283:T728N	ENSP00000255283:T728N	T	+	2	0	ATP8A2	25171402	1.000000	0.71417	0.988000	0.46212	0.897000	0.52465	7.813000	0.86123	2.789000	0.95967	0.655000	0.94253	ACC		0.547	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		12	53	1	0	2.27111e-07	0.013537	2.82168e-07	12	53				
ATP7B	540	broad.mit.edu	37	13	52509127	52509127	+	Missense_Mutation	SNP	G	G	A	rs371458882		TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr13:52509127G>A	ENST00000242839.4	-	21	4319	c.4163C>T	c.(4162-4164)gCg>gTg	p.A1388V	ATP7B_ENST00000418097.2_Missense_Mutation_p.A1323V|ATP7B_ENST00000448424.2_Missense_Mutation_p.A1310V|ATP7B_ENST00000344297.5_Missense_Mutation_p.A1181V|ATP7B_ENST00000417240.2_Missense_Mutation_p.A599V|ATP7B_ENST00000400370.3_Missense_Mutation_p.A958V|ATP7B_ENST00000400366.3_Missense_Mutation_p.A1277V	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1388					cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	GTGGCCATGCGCCTGTGCCTC	0.547									Wilson disease																														uc001vfw.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(4162-4164)GCG>GTG		ATPase, Cu++ transporting, beta polypeptide		G	VAL/ALA,VAL/ALA	1,4187		0,1,2093	50.0	55.0	53.0		4163,3542	4.7	1.0	13		53	0,8454		0,0,4227	no	missense,missense	ATP7B	NM_000053.3,NM_001005918.2	64,64	0,1,6320	AA,AG,GG		0.0,0.0239,0.0079	benign,benign	1388/1466,1181/1259	52509127	1,12641	2094	4227	6321	SO:0001583	missense	540	Wilson_disease	Familial Cancer Database		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	g.chr13:52509127G>A	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.4163C>T	13.37:g.52509127G>A	ENSP00000242839:p.Ala1388Val					ATP7B_uc010adv.2_Missense_Mutation_p.A958V|ATP7B_uc001vfx.2_Missense_Mutation_p.A1181V|ATP7B_uc001vfy.2_Missense_Mutation_p.A1277V|ATP7B_uc010tgt.1_Missense_Mutation_p.A1323V|ATP7B_uc010tgu.1_Missense_Mutation_p.A1340V|ATP7B_uc010tgv.1_Missense_Mutation_p.A1310V|ATP7B_uc001vfv.2_Missense_Mutation_p.A660V|ATP7B_uc010tgs.1_Missense_Mutation_p.A599V	p.A1388V	NM_000053	NP_000044	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	21	4320	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	1388			Cytoplasmic (Potential).		Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	ENST00000242839.4	37	c.4163C>T	CCDS41892.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.060250	0.36373	2.39E-4	0.0	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000417240;ENST00000448424;ENST00000400370;ENST00000418097	T;T;T;T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87;-0.87;-0.87;-0.87	5.55	4.71	0.59529	.	0.053116	0.85682	D	0.000000	T	0.65811	0.2727	L	0.54323	1.7	0.80722	D	1	B;B;B;B;B;P;B;B	0.46512	0.006;0.016;0.043;0.002;0.043;0.879;0.043;0.008	B;B;B;B;B;B;B;B	0.37387	0.006;0.021;0.016;0.001;0.016;0.248;0.016;0.013	T	0.64266	-0.6448	10	0.13853	T	0.58	-28.3706	14.629	0.68643	0.0701:0.0:0.9299:0.0	.	1310;1340;1323;599;958;1277;1181;1388	E7ET55;B7ZLR4;F5H748;E7EQQ2;F5H562;P35670-3;P35670-2;P35670	.;.;.;.;.;.;.;ATP7B_HUMAN	V	1388;1277;1181;599;1310;958;1323	ENSP00000242839:A1388V;ENSP00000383217:A1277V;ENSP00000342559:A1181V;ENSP00000390360:A599V;ENSP00000416738:A1310V;ENSP00000383221:A958V;ENSP00000393343:A1323V	ENSP00000242839:A1388V	A	-	2	0	ATP7B	51407128	1.000000	0.71417	0.995000	0.50966	0.149000	0.21700	7.263000	0.78421	1.366000	0.46076	-0.254000	0.11334	GCG		0.547	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		11	45	0	0	0	0.013537	0	11	45				
SLITRK1	114798	broad.mit.edu	37	13	84454780	84454780	+	Missense_Mutation	SNP	G	G	T	rs370157685		TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr13:84454780G>T	ENST00000377084.2	-	1	1748	c.863C>A	c.(862-864)aCt>aAt	p.T288N		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	288					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CTTGAAAGGAGTTGGCAGGGG	0.542																																							uc001vlk.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(862-864)ACT>AAT		slit and trk like 1 protein precursor							76.0	76.0	76.0					13																	84454780		2203	4300	6503	SO:0001583	missense	114798					integral to membrane		g.chr13:84454780G>T	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.863C>A	13.37:g.84454780G>T	ENSP00000366288:p.Thr288Asn						p.T288N	NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	1749	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	288			Extracellular (Potential).		Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	c.863C>A	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.141823	0.37825	.	.	ENSG00000178235	ENST00000377084	T	0.60171	0.21	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.43590	0.1254	N	0.20986	0.625	0.58432	D	0.999991	P	0.47841	0.901	B	0.42188	0.379	T	0.31364	-0.9946	10	0.10636	T	0.68	-7.7523	16.699	0.85343	0.0:0.0:1.0:0.0	.	288	Q96PX8	SLIK1_HUMAN	N	288	ENSP00000366288:T288N	ENSP00000366288:T288N	T	-	2	0	SLITRK1	83352781	.	.	1.000000	0.80357	0.913000	0.54294	.	.	2.525000	0.85131	0.555000	0.69702	ACT		0.542	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		11	43	1	0	4.84862e-15	0.010729	6.34446e-15	11	43				
ERCC5	2073	broad.mit.edu	37	13	103528149	103528149	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr13:103528149G>A	ENST00000355739.4	+	15	4880	c.3457G>A	c.(3457-3459)Gac>Aac	p.D1153N	ERCC5_ENST00000375954.1_Missense_Mutation_p.D386N|ERCC5_ENST00000472247.1_3'UTR	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	1153					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TGATAGTGATGACGATGGAGG	0.493			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														uc001vpw.2		NA	yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	Mis|N|F	"""excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"""			E		skin basal cell|skin squamous cell|melanoma			0				ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						c.(3457-3459)GAC>AAC	Direct_reversal_of_damage|NER	XPG-complementing protein							49.0	50.0	50.0					13																	103528149		2203	4300	6503	SO:0001583	missense	2073	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding	g.chr13:103528149G>A	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"""Cockayne syndrome"""	133530	"""xeroderma pigmentosum, complementation group G"", ""excision repair cross-complementing rodent repair deficiency, complementation group 5"""	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.3457G>A	13.37:g.103528149G>A	ENSP00000347978:p.Asp1153Asn						p.D1153N	NM_000123	NP_000114	P28715	ERCC5_HUMAN			15	3900	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		1153					A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	ENST00000355739.4	37	c.3457G>A	CCDS32004.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.326821	0.81690	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000375955;ENST00000375954	T;T	0.08008	3.35;3.14	5.27	5.27	0.74061	.	0.389237	0.27126	N	0.020820	T	0.12817	0.0311	M	0.62723	1.935	0.80722	D	1	B	0.29988	0.264	B	0.23150	0.044	T	0.02668	-1.1126	10	0.49607	T	0.09	-1.6332	19.2682	0.93998	0.0:0.0:1.0:0.0	.	1153	P28715	ERCC5_HUMAN	N	1578;1153;985;386	ENSP00000347978:D1153N;ENSP00000365121:D386N	ENSP00000347978:D1153N	D	+	1	0	ERCC5	102326150	1.000000	0.71417	0.007000	0.13788	0.097000	0.18754	5.227000	0.65305	2.629000	0.89072	0.650000	0.86243	GAC		0.493	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1			13	21	0	0	0	0.003163	0	13	21				
OXA1L	5018	broad.mit.edu	37	14	23235884	23235884	+	Missense_Mutation	SNP	G	G	A	rs377716019		TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr14:23235884G>A	ENST00000285848.5	+	1	154	c.154G>A	c.(154-156)Gca>Aca	p.A52T	OXA1L_ENST00000604262.1_5'Flank|CTD-2555K7.2_ENST00000553792.1_RNA|OXA1L_ENST00000358043.5_5'Flank|CTD-2555K7.2_ENST00000554857.1_RNA|OXA1L_ENST00000412791.1_5'Flank|CTD-2555K7.2_ENST00000554730.1_RNA	NM_005015.3	NP_005006.3	Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	0					aerobic respiration (GO:0009060)|mitochondrial proton-transporting ATP synthase complex assembly (GO:0033615)|mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex I biogenesis (GO:0097031)|negative regulation of ATPase activity (GO:0032780)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|protein complex assembly (GO:0006461)|protein insertion into membrane (GO:0051205)|protein tetramerization (GO:0051262)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	mitochondrial ribosome binding (GO:0097177)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		CTGCGCAGGCGCAAAAGCAAG	0.582																																							uc001wgn.2		NA																	0				central_nervous_system(1)	1						c.(154-156)GCA>ACA		oxidase (cytochrome c) assembly 1-like		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	97.0	108.0	104.0		154	5.1	0.9	14		104	0,8600		0,0,4300	no	missense	OXA1L	NM_005015.3	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	52/496	23235884	1,13005	2203	4300	6503	SO:0001583	missense	5018				aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding	g.chr14:23235884G>A		CCDS9573.1	14q11.2	2009-05-26			ENSG00000155463	ENSG00000155463			8526	protein-coding gene	gene with protein product		601066				8586451, 19349278	Standard	NM_005015		Approved	MGC133129, OXA1	uc001wgn.2	Q15070	OTTHUMG00000028691	ENST00000285848.5:c.154G>A	14.37:g.23235884G>A	ENSP00000285848:p.Ala52Thr					OXA1L_uc010tnc.1_Missense_Mutation_p.A52T|OXA1L_uc001wgo.2_RNA|OXA1L_uc010akc.2_Missense_Mutation_p.A52T|OXA1L_uc001wgp.2_5'Flank|OXA1L_uc001wgq.2_5'Flank	p.A52T	NM_005015	NP_005006	Q15070	OXA1L_HUMAN		GBM - Glioblastoma multiforme(265;0.0096)	1	154	+	all_cancers(95;8.44e-05)		Error:Variant_position_missing_in_Q15070_after_alignment					B4DPA2	Missense_Mutation	SNP	ENST00000285848.5	37	c.154G>A	CCDS9573.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.842359	0.91197	2.27E-4	0.0	ENSG00000155463	ENST00000285848	T	0.37235	1.21	5.05	5.05	0.67936	.	0.958245	0.08513	U	0.934662	T	0.27559	0.0677	N	0.08118	0	0.80722	D	1	D	0.60575	0.988	P	0.45195	0.473	T	0.18681	-1.0329	10	0.87932	D	0	-4.5862	13.7879	0.63121	0.0:0.0:1.0:0.0	.	52	Q2M1J6	.	T	52	ENSP00000285848:A52T	ENSP00000285848:A52T	A	+	1	0	OXA1L	22305724	0.999000	0.42202	0.933000	0.37362	0.106000	0.19336	2.747000	0.47475	2.611000	0.88343	0.655000	0.94253	GCA		0.582	OXA1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000071630.2	NM_005015		14	124	0	0	0	0.00245	0	14	124				
MYH7	4625	broad.mit.edu	37	14	23902380	23902380	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr14:23902380T>A	ENST00000355349.3	-	4	420	c.258A>T	c.(256-258)aaA>aaT	p.K86N		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	86	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGTCCTCGATTTTGTCGAACT	0.587																																							uc001wjx.2		NA																	0				ovary(3)|skin(1)	4						c.(256-258)AAA>AAT		myosin, heavy chain 7, cardiac muscle, beta							281.0	201.0	228.0					14																	23902380		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23902380T>A	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.258A>T	14.37:g.23902380T>A	ENSP00000347507:p.Lys86Asn						p.K86N	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	4	364	-	all_cancers(95;2.54e-05)		86			Myosin head-like.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.258A>T	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	t	14.26	2.482053	0.44147	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.95272	-3.66	3.64	2.73	0.32206	Myosin head, motor domain (1);	.	.	.	.	D	0.94311	0.8172	M	0.88450	2.955	0.40981	D	0.984772	B	0.24721	0.11	B	0.32624	0.149	D	0.92423	0.5947	9	0.62326	D	0.03	.	6.382	0.21540	0.0:0.6532:0.0:0.3467	.	86	P12883	MYH7_HUMAN	N	86	ENSP00000347507:K86N	ENSP00000347507:K86N	K	-	3	2	MYH7	22972220	0.716000	0.27956	1.000000	0.80357	0.893000	0.52053	-0.053000	0.11846	0.847000	0.35167	0.254000	0.18369	AAA		0.587	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		23	99	0	0	0	0.013726	0	23	99				
ADCY4	196883	broad.mit.edu	37	14	24798353	24798353	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr14:24798353G>A	ENST00000310677.4	-	11	1551	c.1438C>T	c.(1438-1440)Cgt>Tgt	p.R480C	ADCY4_ENST00000418030.2_Missense_Mutation_p.R480C|ADCY4_ENST00000554068.2_Missense_Mutation_p.R480C|ADCY4_ENST00000396747.3_Missense_Mutation_p.R173C	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	480					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		TCCAGGTAACGGGTCATCAGC	0.617																																							uc001wov.2		NA																	0				ovary(1)|lung(1)|pancreas(1)	3						c.(1438-1440)CGT>TGT		adenylate cyclase 4							125.0	118.0	121.0					14																	24798353		2203	4300	6503	SO:0001583	missense	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24798353G>A	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.1438C>T	14.37:g.24798353G>A	ENSP00000312126:p.Arg480Cys					ADCY4_uc001wow.2_Missense_Mutation_p.R480C|ADCY4_uc010toh.1_Missense_Mutation_p.R166C|ADCY4_uc001wox.2_Missense_Mutation_p.R480C|ADCY4_uc001woy.2_Missense_Mutation_p.R480C	p.R480C	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	10	1444	-			480			Cytoplasmic (Potential).		B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	ENST00000310677.4	37	c.1438C>T	CCDS9627.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.786771	0.90367	.	.	ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030;ENST00000396747	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	4.57	4.57	0.56435	.	0.000000	0.43579	D	0.000559	D	0.84995	0.5596	M	0.66297	2.02	0.80722	D	1	D	0.69078	0.997	D	0.63283	0.913	D	0.86224	0.1633	10	0.56958	D	0.05	.	14.8842	0.70555	0.0:0.0:1.0:0.0	.	480	Q8NFM4	ADCY4_HUMAN	C	480;480;480;173	ENSP00000312126:R480C;ENSP00000452250:R480C;ENSP00000393177:R480C;ENSP00000379971:R173C	ENSP00000312126:R480C	R	-	1	0	ADCY4	23868193	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.471000	0.73562	2.362000	0.80069	0.655000	0.94253	CGT		0.617	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			9	55	0	0	0	0.006214	0	9	55				
OR4N4	283694	broad.mit.edu	37	15	22383265	22383265	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr15:22383265T>A	ENST00000328795.4	+	1	884	c.793T>A	c.(793-795)Tta>Ata	p.L265I	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	265						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(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTTCAGGGCCTTACCAGCTGA	0.433																																							uc001yuc.1		NA																	0				ovary(4)|skin(1)	5						c.(793-795)TTA>ATA		olfactory receptor, family 4, subfamily N,							224.0	199.0	207.0					15																	22383265		2189	4262	6451	SO:0001583	missense	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22383265T>A	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.793T>A	15.37:g.22383265T>A	ENSP00000332500:p.Leu265Ile					LOC727924_uc001yub.1_Intron|OR4N4_uc010tzv.1_Missense_Mutation_p.L265I	p.L265I	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	7	1774	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	265			Extracellular (Potential).		Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	c.793T>A	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	5.792	0.330409	0.10956	.	.	ENSG00000183706	ENST00000328795	T	0.00107	8.72	3.2	1.98	0.26296	GPCR, rhodopsin-like superfamily (1);	0.283389	0.25494	N	0.030295	T	0.00178	0.0005	L	0.39467	1.215	0.09310	N	1	B	0.30973	0.302	B	0.39935	0.314	T	0.19353	-1.0308	10	0.87932	D	0	-7.7737	6.9366	0.24470	0.0:0.123:0.0:0.877	.	265	Q8N0Y3	OR4N4_HUMAN	I	265	ENSP00000332500:L265I	ENSP00000332500:L265I	L	+	1	2	OR4N4	19884629	0.000000	0.05858	0.017000	0.16124	0.064000	0.16182	0.311000	0.19380	0.374000	0.24650	0.332000	0.21555	TTA		0.433	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			21	255	0	0	0	0.00278	0	21	255				
LINGO1	84894	broad.mit.edu	37	15	77907402	77907402	+	Missense_Mutation	SNP	C	C	T	rs369718013		TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr15:77907402C>T	ENST00000355300.6	-	2	1021	c.847G>A	c.(847-849)Gtc>Atc	p.V283I	LINGO1_ENST00000561030.1_Missense_Mutation_p.V277I	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	283					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						AGGTGGCGGACGGCCAGGTAG	0.587																																							uc002bct.1		NA																	0				ovary(1)|lung(1)	2						c.(847-849)GTC>ATC		leucine-rich repeat neuronal 6A							106.0	106.0	106.0					15																	77907402		2190	4286	6476	SO:0001583	missense	84894				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane		g.chr15:77907402C>T	AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"""Immunoglobulin superfamily / I-set domain containing"""	21205	protein-coding gene	gene with protein product		609791	"""leucine rich repeat neuronal 6A"""	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.847G>A	15.37:g.77907402C>T	ENSP00000347451:p.Val283Ile					LINGO1_uc002bcu.1_Missense_Mutation_p.V277I	p.V283I	NM_032808	NP_116197	Q96FE5	LIGO1_HUMAN			2	899	-			283			Extracellular (Potential).|LRR 8.		D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP	ENST00000355300.6	37	c.847G>A	CCDS45313.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.428667	0.25726	.	.	ENSG00000169783	ENST00000355300	T	0.78003	-1.14	5.34	5.34	0.76211	.	0.136830	0.52532	D	0.000067	T	0.50956	0.1646	N	0.02011	-0.69	0.41728	D	0.989549	B	0.02656	0.0	B	0.01281	0.0	T	0.51980	-0.8636	10	0.41790	T	0.15	.	8.3522	0.32310	0.1557:0.7667:0.0:0.0776	.	283	Q96FE5	LIGO1_HUMAN	I	283	ENSP00000347451:V283I	ENSP00000347451:V283I	V	-	1	0	LINGO1	75694457	0.556000	0.26538	1.000000	0.80357	0.986000	0.74619	1.084000	0.30828	2.513000	0.84729	0.462000	0.41574	GTC		0.587	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808		3	57	0	0	0	0.009096	0	3	57				
WASH3P	374666	broad.mit.edu	37	15	102516424	102516424	+	RNA	SNP	G	G	T	rs201105823		TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr15:102516424G>T	ENST00000557932.1	+	0	1372				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.P449P(4)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGCCGCCACCGCAGCAGCCAC	0.647																																							uc002cdi.2		NA																	4	Substitution - coding silent(4)		endometrium(3)|kidney(1)		0						c.(748-750)CCG>CCT		RecName: Full=WAS protein family homolog 2; AltName: Full=Protein FAM39B; AltName: Full=CXYorf1-like protein on chromosome 2;																																						374666							g.chr15:102516424G>T			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102516424G>T						WASH3P_uc002cdl.2_Silent_p.P250P|WASH3P_uc002cdk.2_RNA|WASH3P_uc002cdp.2_Silent_p.P250P|WASH3P_uc010bpo.2_RNA|WASH3P_uc002cdq.2_RNA|WASH3P_uc002cdr.2_RNA	p.P250P	NR_003659						11	2170	+									Silent	SNP	ENST00000557932.1	37	c.750G>T																																																																																					0.647	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		7	69	1	0	0.000157383	0.00308	0.000179242	7	69				
TMC5	79838	broad.mit.edu	37	16	19485537	19485537	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr16:19485537A>T	ENST00000396229.2	+	12	2778	c.2029A>T	c.(2029-2031)Atg>Ttg	p.M677L	TMC5_ENST00000564959.1_Missense_Mutation_p.M360L|TMC5_ENST00000541464.1_Missense_Mutation_p.M625L|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000542583.2_Missense_Mutation_p.M677L|TMC5_ENST00000219821.5_Missense_Mutation_p.M431L|TMC5_ENST00000381414.4_Missense_Mutation_p.M677L|TMC5_ENST00000561503.1_Missense_Mutation_p.M318L	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	677					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CATCTACTCCATGTTCAGGCT	0.552																																							uc002dgc.3		NA																	0				skin(1)	1						c.(2029-2031)ATG>TTG		transmembrane channel-like 5 isoform a							284.0	225.0	245.0					16																	19485537		2197	4300	6497	SO:0001583	missense	79838					integral to membrane		g.chr16:19485537A>T	AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.2029A>T	16.37:g.19485537A>T	ENSP00000379531:p.Met677Leu					TMC5_uc010vaq.1_Missense_Mutation_p.M625L|TMC5_uc002dgb.3_Missense_Mutation_p.M677L|TMC5_uc010var.1_Missense_Mutation_p.M677L|TMC5_uc002dgd.1_Missense_Mutation_p.M431L|TMC5_uc002dge.3_Missense_Mutation_p.M431L|TMC5_uc002dgf.3_Missense_Mutation_p.M360L|TMC5_uc002dgg.3_Missense_Mutation_p.M318L	p.M677L	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN			12	2778	+			677			Cytoplasmic (Potential).		Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	ENST00000396229.2	37	c.2029A>T	CCDS45431.1	.	.	.	.	.	.	.	.	.	.	A	0.092	-1.165121	0.01673	.	.	ENSG00000103534	ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583;ENST00000219821;ENST00000440743	T;T;T;T;T	0.62498	0.02;0.84;0.84;0.84;0.84	4.93	0.77	0.18497	.	0.508110	0.22501	N	0.059238	T	0.34337	0.0894	L	0.28115	0.83	0.18873	N	0.999983	B;B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0;0.0	B;B;B;B;B;B	0.08055	0.001;0.0;0.003;0.001;0.0;0.0	T	0.17531	-1.0366	10	0.02654	T	1	-11.2921	1.921	0.03307	0.5696:0.1332:0.0953:0.2018	.	625;360;431;431;677;677	F5GYU8;E7EU57;Q6UXY8-3;B3KUQ8;Q6UXY8;Q6UXY8-2	.;.;.;.;TMC5_HUMAN;.	L	625;677;677;677;431;360	ENSP00000441227:M625L;ENSP00000370822:M677L;ENSP00000379531:M677L;ENSP00000446274:M677L;ENSP00000219821:M431L	ENSP00000219821:M431L	M	+	1	0	TMC5	19393038	0.131000	0.22433	0.996000	0.52242	0.143000	0.21401	-0.215000	0.09279	0.316000	0.23135	0.459000	0.35465	ATG		0.552	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780		5	158	0	0	0	0.000602	0	5	158				
SCARF1	8578	broad.mit.edu	37	17	1538814	1538814	+	Silent	SNP	C	C	T			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr17:1538814C>T	ENST00000263071.4	-	11	1780	c.1731G>A	c.(1729-1731)ccG>ccA	p.P577P	SCARF1_ENST00000348987.3_Silent_p.P491P|SCARF1_ENST00000571272.1_Missense_Mutation_p.R565H	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	577	Pro/Ser-rich.				cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TGGAGGTGCGCGGGATGGCGA	0.672																																							uc002fsz.1		NA																	0		p.P577S(1)		skin(1)	1						c.(1729-1731)CCG>CCA		scavenger receptor class F, member 1 isoform 1							54.0	56.0	55.0					17																	1538814		2203	4300	6503	SO:0001819	synonymous_variant	8578				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity	g.chr17:1538814C>T	D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"""scavenger receptor expressed by endothelial cells"", ""acetyl LDL receptor"""	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555	ENST00000263071.4:c.1731G>A	17.37:g.1538814C>T						SCARF1_uc002fsy.1_Missense_Mutation_p.R565H|SCARF1_uc002fta.1_RNA|SCARF1_uc010cjv.1_Silent_p.P491P	p.P577P	NM_003693	NP_003684	Q14162	SREC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	11	1781	-			577			Pro/Ser-rich.|Cytoplasmic (Potential).		A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Silent	SNP	ENST00000263071.4	37	c.1731G>A	CCDS11007.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.968499	0.34754	.	.	ENSG00000074660	ENST00000434376	.	.	.	5.21	-10.4	0.00318	.	.	.	.	.	T	0.21550	0.0519	.	.	.	0.80722	D	1	D	0.56287	0.975	B	0.35114	0.196	T	0.54741	-0.8248	7	0.52906	T	0.07	-8.7985	3.5333	0.07785	0.1532:0.2571:0.4305:0.1593	.	565	Q14162-3	.	H	565	.	ENSP00000411167:R565H	R	-	2	0	SCARF1	1485564	0.000000	0.05858	0.805000	0.32314	0.837000	0.47467	-2.968000	0.00669	-1.636000	0.01533	-2.114000	0.00352	CGC		0.672	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207081.4	NM_003693		18	74	0	0	0	0.007413	0	18	74				
DHX8	1659	broad.mit.edu	37	17	41569551	41569551	+	Splice_Site	SNP	A	A	T			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr17:41569551A>T	ENST00000262415.3	+	5	466	c.394A>T	c.(394-396)Acc>Tcc	p.T132S	DHX8_ENST00000540306.1_Splice_Site_p.T132S	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	132					ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		ACCTCTGCAGACCATGTTGGA	0.443																																					NSCLC(56;1548 1661 49258 49987)	NSCLC(56;1548 1661 49258 49987)	uc002idu.1		NA																	0				ovary(2)|kidney(1)|pancreas(1)	4						c.(394-396)ACC>TCC		DEAH (Asp-Glu-Ala-His) box polypeptide 8							91.0	84.0	86.0					17																	41569551		2203	4300	6503	SO:0001630	splice_region_variant	1659					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr17:41569551A>T	D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"""DEAH-boxes"""	2749	protein-coding gene	gene with protein product		600396	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"""	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.394-1A>T	17.37:g.41569551A>T						DHX8_uc010wif.1_Missense_Mutation_p.T41S|DHX8_uc010wig.1_Missense_Mutation_p.T132S	p.T132S	NM_004941	NP_004932	Q14562	DHX8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.08)	5	467	+		Breast(137;0.00908)	132						Missense_Mutation	SNP	ENST00000262415.3	37	c.394A>T	CCDS11464.1	.	.	.	.	.	.	.	.	.	.	A	10.06	1.245642	0.22796	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	T;T	0.09817	2.94;2.94	6.17	6.17	0.99709	.	0.344182	0.32444	N	0.006090	T	0.11196	0.0273	L	0.36672	1.1	0.54753	D	0.999987	B;B	0.18741	0.03;0.018	B;B	0.21917	0.037;0.01	T	0.17440	-1.0369	9	.	.	.	.	16.0034	0.80327	1.0:0.0:0.0:0.0	.	132;132	F5H658;Q14562	.;DHX8_HUMAN	S	132	ENSP00000437886:T132S;ENSP00000262415:T132S	.	T	+	1	0	DHX8	38925077	1.000000	0.71417	1.000000	0.80357	0.452000	0.32318	5.024000	0.64090	2.371000	0.80710	0.533000	0.62120	ACC		0.443	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1		Missense_Mutation	8	26	0	0	0	0.006214	0	8	26				
GPATCH8	23131	broad.mit.edu	37	17	42476905	42476905	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr17:42476905C>A	ENST00000591680.1	-	8	2570	c.2540G>T	c.(2539-2541)aGt>aTt	p.S847I	GPATCH8_ENST00000434000.1_Missense_Mutation_p.S769I	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	847	Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GGAATGCTCACTGCCTGAATC	0.552																																							uc002igw.1		NA																	0				ovary(2)|kidney(1)|skin(1)	4						c.(2539-2541)AGT>ATT		G patch domain containing 8							151.0	131.0	138.0					17																	42476905		2203	4300	6503	SO:0001583	missense	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42476905C>A	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.2540G>T	17.37:g.42476905C>A	ENSP00000467556:p.Ser847Ile					GPATCH8_uc002igv.1_Missense_Mutation_p.S769I|GPATCH8_uc010wiz.1_Missense_Mutation_p.S769I	p.S847I	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	8	2604	-		Prostate(33;0.0181)	847			Ser-rich.		B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	ENST00000591680.1	37	c.2540G>T	CCDS32666.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.507124	0.44558	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.14893	2.47	5.21	5.21	0.72293	.	0.044806	0.85682	D	0.000000	T	0.29588	0.0738	N	0.19112	0.55	0.46678	D	0.999155	D	0.71674	0.998	D	0.78314	0.991	T	0.07693	-1.0759	10	0.59425	D	0.04	-11.1432	18.9406	0.92604	0.0:1.0:0.0:0.0	.	847	Q9UKJ3	GPTC8_HUMAN	I	847;769	ENSP00000395016:S769I	ENSP00000335486:S847I	S	-	2	0	GPATCH8	39832431	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	5.099000	0.64554	2.716000	0.92895	0.561000	0.74099	AGT		0.552	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		31	65	1	0	5.45727e-16	0.008361	7.29613e-16	31	65				
ANKFN1	162282	broad.mit.edu	37	17	54428148	54428148	+	Silent	SNP	G	G	A	rs370848906		TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr17:54428148G>A	ENST00000318698.2	+	4	254	c.219G>A	c.(217-219)acG>acA	p.T73T	ANKFN1_ENST00000566473.2_Silent_p.T73T	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	73								p.T73T(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						TGAAAATGACGCAACAAATGC	0.388																																							uc002iun.1		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(217-219)ACG>ACA		ankyrin-repeat and fibronectin type III domain		G		1,4405	2.1+/-5.4	0,1,2202	99.0	98.0	98.0		219	-0.2	1.0	17		98	0,8600		0,0,4300	no	coding-synonymous	ANKFN1	NM_153228.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		73/764	54428148	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	162282							g.chr17:54428148G>A	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.219G>A	17.37:g.54428148G>A							p.T73T	NM_153228	NP_694960	Q8N957	ANKF1_HUMAN			4	254	+			73						Silent	SNP	ENST00000318698.2	37	c.219G>A	CCDS32686.1																																																																																				0.388	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228		10	44	0	0	0	0.006214	0	10	44				
CLUL1	27098	broad.mit.edu	37	18	641426	641426	+	Missense_Mutation	SNP	G	G	A	rs550299496		TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr18:641426G>A	ENST00000400606.2	+	7	1239	c.1094G>A	c.(1093-1095)cGg>cAg	p.R365Q	CLUL1_ENST00000540035.1_Missense_Mutation_p.R417Q|CLUL1_ENST00000579494.1_Missense_Mutation_p.R365Q|CLUL1_ENST00000338387.7_Missense_Mutation_p.R365Q|CLUL1_ENST00000581619.1_Missense_Mutation_p.R390Q|C18orf56_ENST00000585033.1_3'UTR	NM_014410.4	NP_055225.1	Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	365					cell death (GO:0008219)	extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						CAGATGACCCGGAAGCACTTG	0.522													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18180	0.0		0.0	False		,,,				2504	0.0						uc002kkp.2		NA																	0				ovary(2)	2						c.(1093-1095)CGG>CAG		clusterin-like 1 (retinal) precursor							128.0	123.0	125.0					18																	641426		1983	4156	6139	SO:0001583	missense	27098				cell death	extracellular region		g.chr18:641426G>A	D63813	CCDS42405.1, CCDS74187.1	18p11.32	2008-07-28				ENSG00000079101			2096	protein-coding gene	gene with protein product						10675623, 14507903	Standard	NM_199167		Approved		uc002kkq.3	Q15846		ENST00000400606.2:c.1094G>A	18.37:g.641426G>A	ENSP00000383449:p.Arg365Gln					CLUL1_uc010wys.1_Missense_Mutation_p.R417Q|CLUL1_uc002kkq.2_Missense_Mutation_p.R365Q	p.R365Q	NM_014410	NP_055225	Q15846	CLUL1_HUMAN			7	1239	+			365					A0FDN7	Missense_Mutation	SNP	ENST00000400606.2	37	c.1094G>A	CCDS42405.1	.	.	.	.	.	.	.	.	.	.	G	1.872	-0.459949	0.04508	.	.	ENSG00000079101	ENST00000400606;ENST00000540035;ENST00000338387	T;T;T	0.18502	2.21;2.21;2.21	5.59	4.44	0.53790	Clusterin, C-terminal (1);	0.121200	0.64402	N	0.000020	T	0.03871	0.0109	N	0.00677	-1.265	0.80722	D	1	B;B	0.16802	0.015;0.019	B;B	0.06405	0.002;0.001	T	0.29912	-0.9996	10	0.02654	T	1	-5.2478	8.4845	0.33063	0.839:0.0:0.161:0.0	.	417;365	F5GWQ8;Q15846	.;CLUL1_HUMAN	Q	365;417;365	ENSP00000383449:R365Q;ENSP00000441726:R417Q;ENSP00000341128:R365Q	ENSP00000341128:R365Q	R	+	2	0	CLUL1	631426	0.998000	0.40836	0.828000	0.32881	0.503000	0.33858	1.869000	0.39519	0.959000	0.37980	-0.471000	0.05019	CGG		0.522	CLUL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441183.1			15	110	0	0	0	0.003163	0	15	110				
LAMA1	284217	broad.mit.edu	37	18	6956680	6956680	+	Silent	SNP	G	G	A	rs145856205		TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr18:6956680G>A	ENST00000389658.3	-	56	8142	c.8049C>T	c.(8047-8049)ccC>ccT	p.P2683P	RP11-781P6.1_ENST00000584722.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2683					axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CCTCTGCATCGGGAGCCAGCT	0.542													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16171	0.0		0.0	False		,,,				2504	0.0						uc002knm.2		NA																	0				ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(8047-8049)CCC>CCT		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	G		4,4402	8.1+/-20.4	0,4,2199	67.0	70.0	69.0		8049	-7.8	0.0	18	dbSNP_134	69	0,8600		0,0,4300	no	coding-synonymous	LAMA1	NM_005559.3		0,4,6499	AA,AG,GG		0.0,0.0908,0.0308		2683/3076	6956680	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6956680G>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.8049C>T	18.37:g.6956680G>A						LAMA1_uc002knk.2_5'Flank|LAMA1_uc002knl.2_Silent_p.P136P|LAMA1_uc010wzj.1_Silent_p.P2159P	p.P2683P	NM_005559	NP_005550	P25391	LAMA1_HUMAN			56	8143	-		Colorectal(10;0.172)	2683						Silent	SNP	ENST00000389658.3	37	c.8049C>T	CCDS32787.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	5.487	0.274783	0.10403	9.08E-4	0.0	ENSG00000101680	ENST00000344342	.	.	.	5.48	-7.85	0.01192	.	0.763676	0.11660	N	0.541975	T	0.11879	0.0289	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.31971	-0.9924	6	0.10377	T	0.69	.	4.89	0.13722	0.2175:0.2798:0.414:0.0888	.	.	.	.	L	135	.	ENSP00000341000:P135L	P	-	2	0	LAMA1	6946680	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.201000	0.03026	-0.986000	0.03498	-0.302000	0.09304	CCG		0.542	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		6	48	0	0	0	0.001168	0	6	48				
ZNF521	25925	broad.mit.edu	37	18	22807567	22807567	+	Silent	SNP	G	G	A	rs145068263	byFrequency	TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr18:22807567G>A	ENST00000361524.3	-	4	463	c.315C>T	c.(313-315)tgC>tgT	p.C105C	ZNF521_ENST00000538137.2_Silent_p.C105C|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_5'UTR	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	105					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CTCCAAAATCGCAACCTTCTC	0.517			T	PAX5	ALL								G|||	7	0.00139776	0.0	0.0	5008	,	,		18265	0.0		0.002	False		,,,				2504	0.0051						uc002kvk.2		NA		Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				ovary(4)|large_intestine(2)|lung(1)	7						c.(313-315)TGC>TGT		zinc finger protein 521		G		1,4405	2.1+/-5.4	0,1,2202	74.0	68.0	70.0		315	-11.1	0.1	18	dbSNP_134	70	7,8593	5.7+/-21.5	0,7,4293	no	coding-synonymous	ZNF521	NM_015461.2		0,8,6495	AA,AG,GG		0.0814,0.0227,0.0615		105/1312	22807567	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22807567G>A	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.315C>T	18.37:g.22807567G>A						ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Silent_p.C105C|ZNF521_uc002kvl.2_5'UTR	p.C105C	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			4	562	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		105					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Silent	SNP	ENST00000361524.3	37	c.315C>T	CCDS32806.1																																																																																				0.517	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		4	59	0	0	0	0.009096	0	4	59				
ELP2	55250	broad.mit.edu	37	18	33734899	33734899	+	Silent	SNP	C	C	T			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr18:33734899C>T	ENST00000358232.6	+	12	1275	c.1212C>T	c.(1210-1212)atC>atT	p.I404I	ELP2_ENST00000542050.1_3'UTR|ELP2_ENST00000423854.2_Silent_p.I334I|ELP2_ENST00000351393.6_Silent_p.I378I|ELP2_ENST00000542824.1_Silent_p.I334I|ELP2_ENST00000350494.6_Silent_p.I399I|ELP2_ENST00000442325.2_Silent_p.I469I	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	404					chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						AATTTATTATCACTGTTGGTA	0.388																																							uc002kzk.1		NA																	0				breast(2)|ovary(1)|skin(1)	4						c.(1210-1212)ATC>ATT		elongator protein 2							132.0	133.0	133.0					18																	33734899		2203	4300	6503	SO:0001819	synonymous_variant	55250				regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex		g.chr18:33734899C>T	AK001741	CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1	18q12.1	2013-01-10	2012-08-08	2007-04-20	ENSG00000134759	ENSG00000134759		"""Elongator acetyltransferase complex subunits"", ""WD repeat domain containing"""	18248	protein-coding gene	gene with protein product			"""signal transducer and activator of transcription 3 interacting protein 1"", ""elongation protein 2 homolog (S. cerevisiae)"""	STATIP1		11714725, 10954736	Standard	NM_001242875		Approved	FLJ10879, StIP	uc002kzk.2	Q6IA86	OTTHUMG00000132589	ENST00000358232.6:c.1212C>T	18.37:g.33734899C>T						ELP2_uc010xcg.1_Silent_p.I469I|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Silent_p.I378I|ELP2_uc010xch.1_Silent_p.I399I|ELP2_uc002kzn.1_Silent_p.I334I|ELP2_uc002kzo.1_Silent_p.I334I	p.I404I	NM_018255	NP_060725	Q6IA86	ELP2_HUMAN			12	1222	+			404			WD 8.		A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Silent	SNP	ENST00000358232.6	37	c.1212C>T	CCDS11918.1																																																																																				0.388	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255800.2	NM_018255		7	42	0	0	0	0.006214	0	7	42				
PRAM1	84106	broad.mit.edu	37	19	8564620	8564620	+	Silent	SNP	G	G	C			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr19:8564620G>C	ENST00000423345.4	-	2	592	c.72C>G	c.(70-72)gcC>gcG	p.A24A	PRAM1_ENST00000255612.3_Silent_p.A24A			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	24					integrin-mediated signaling pathway (GO:0007229)|regulation of neutrophil degranulation (GO:0043313)		lipid binding (GO:0008289)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						CCGGCTGAGAGGCCTGGAACT	0.562																																							uc002mkd.2		NA																	0					0						c.(70-72)GCC>GCG		PML-RARA regulated adaptor molecule 1							24.0	29.0	28.0					19																	8564620		2049	4191	6240	SO:0001819	synonymous_variant	84106						lipid binding|protein binding	g.chr19:8564620G>C	BC028012	CCDS45954.1, CCDS45954.2	19p13.2	2009-01-21				ENSG00000133246			30091	protein-coding gene	gene with protein product		606466				11301322, 15572693	Standard	NM_032152		Approved	PML-RAR	uc002mkd.3	Q96QH2		ENST00000423345.4:c.72C>G	19.37:g.8564620G>C						PRAM1_uc002mkc.2_Silent_p.A24A	p.A24A	NM_032152	NP_115528	Q96QH2	PRAM_HUMAN			2	92	-			24					Q8N6W7	Silent	SNP	ENST00000423345.4	37	c.72C>G	CCDS45954.2																																																																																				0.562	PRAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397040.3	NM_032152		5	13	0	0	0	0.000602	0	5	13				
ZNF91	7644	broad.mit.edu	37	19	23545333	23545333	+	Nonsense_Mutation	SNP	G	G	A			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr19:23545333G>A	ENST00000300619.7	-	4	653	c.448C>T	c.(448-450)Cag>Tag	p.Q150*	ZNF91_ENST00000397082.2_Nonsense_Mutation_p.Q118*|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	150					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)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				ACTTTGCTCTGGGCAGTTGTG	0.323																																							uc002nre.2		NA																	0					0						c.(448-450)CAG>TAG		zinc finger protein 91							76.0	80.0	78.0					19																	23545333		2156	4277	6433	SO:0001587	stop_gained	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23545333G>A	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.448C>T	19.37:g.23545333G>A	ENSP00000300619:p.Gln150*					ZNF91_uc010xrj.1_Nonsense_Mutation_p.Q118*	p.Q150*	NM_003430	NP_003421	Q05481	ZNF91_HUMAN			4	561	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	150					A8K5E1|B7Z6G6	Nonsense_Mutation	SNP	ENST00000300619.7	37	c.448C>T	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.633018	0.29068	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	.	.	.	0.428	0.428	0.16499	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	.	.	.	.	.	.	.	X	150;118	.	ENSP00000300619:Q150X	Q	-	1	0	ZNF91	23337173	0.012000	0.17670	0.003000	0.11579	0.078000	0.17371	0.104000	0.15313	0.436000	0.26393	0.174000	0.16983	CAG		0.323	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		13	37	0	0	0	0.00245	0	13	37				
ZFP82	284406	broad.mit.edu	37	19	36884215	36884215	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr19:36884215A>G	ENST00000392161.3	-	5	1269	c.1027T>C	c.(1027-1029)Tgc>Cgc	p.C343R	ZFP82_ENST00000392171.1_Missense_Mutation_p.C343R	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	343					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)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GCCTTCCCGCATTCCTTACAT	0.423																																							uc002ody.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1027-1029)TGC>CGC		zinc finger protein 82 homolog							98.0	99.0	98.0					19																	36884215		2203	4300	6503	SO:0001583	missense	284406				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36884215A>G	AL834267	CCDS12493.1	19q13.13	2013-01-08	2012-11-27	2008-07-01		ENSG00000181007		"""Zinc fingers, C2H2-type"", ""-"""	28682	protein-coding gene	gene with protein product			"""zinc finger protein 545"", ""zinc finger protein 82 homolog (mouse)"", ""zinc finger protein 82"""	ZNF545		11853319	Standard	NM_133466		Approved	MGC45380, KIAA1948	uc002ody.1	Q8N141		ENST00000392161.3:c.1027T>C	19.37:g.36884215A>G	ENSP00000431265:p.Cys343Arg						p.C343R	NM_133466	NP_597723	Q8N141	ZFP82_HUMAN			5	1262	-			343			C2H2-type 7.		Q8NC63|Q8TF53	Missense_Mutation	SNP	ENST00000392161.3	37	c.1027T>C	CCDS12493.1	.	.	.	.	.	.	.	.	.	.	A	14.41	2.527116	0.44969	.	.	ENSG00000181007	ENST00000392161;ENST00000392171	D;D	0.85955	-2.05;-2.05	4.29	4.29	0.51040	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45361	D	0.000374	D	0.93831	0.8027	H	0.96080	3.765	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.94218	0.7465	10	0.87932	D	0	.	8.8382	0.35126	0.8318:0.0:0.0:0.1682	.	343	Q8N141	ZFP82_HUMAN	R	343	ENSP00000431265:C343R;ENSP00000446080:C343R	ENSP00000431265:C343R	C	-	1	0	ZFP82	41576055	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	8.850000	0.92190	1.944000	0.56390	0.533000	0.62120	TGC		0.423	ZFP82-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109552.2	NM_133466		9	90	0	0	0	0.006214	0	9	90				
RYR1	6261	broad.mit.edu	37	19	38979989	38979989	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr19:38979989A>G	ENST00000359596.3	+	35	5720	c.5720A>G	c.(5719-5721)gAa>gGa	p.E1907G	RYR1_ENST00000355481.4_Missense_Mutation_p.E1907G|RYR1_ENST00000360985.3_Missense_Mutation_p.E1907G			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1907	6 X approximate repeats.|Glu-rich (acidic).				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|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)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	gaagatgaggaaaaagaggaa	0.527																																							uc002oit.2		NA																	0				ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(5719-5721)GAA>GGA		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						141.0	108.0	119.0					19																	38979989		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38979989A>G	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5720A>G	19.37:g.38979989A>G	ENSP00000352608:p.Glu1907Gly					RYR1_uc002oiu.2_Missense_Mutation_p.E1907G	p.E1907G	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		35	5850	+	all_cancers(60;7.91e-06)		1907			Glu-rich (acidic).|Cytoplasmic.|6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.5720A>G	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	a	7.803	0.714130	0.15306	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.08634	3.07;3.07;3.07	4.06	4.06	0.47325	.	0.282905	0.20570	U	0.089742	T	0.05593	0.0147	N	0.14661	0.345	0.21105	N	0.999787	B;B	0.24426	0.103;0.063	B;B	0.25140	0.058;0.026	T	0.38415	-0.9662	10	0.23891	T	0.37	.	12.1423	0.54005	1.0:0.0:0.0:0.0	.	1907;1907	P21817-2;P21817	.;RYR1_HUMAN	G	1907	ENSP00000352608:E1907G;ENSP00000347667:E1907G;ENSP00000354254:E1907G	ENSP00000347667:E1907G	E	+	2	0	RYR1	43671829	1.000000	0.71417	0.802000	0.32245	0.809000	0.45718	2.143000	0.42187	1.685000	0.51034	0.451000	0.29950	GAA		0.527	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			13	33	0	0	0	0.001855	0	13	33				
ZNF285	26974	broad.mit.edu	37	19	44891618	44891618	+	Silent	SNP	G	G	A			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr19:44891618G>A	ENST00000330997.4	-	4	853	c.789C>T	c.(787-789)gaC>gaT	p.D263D	ZNF285_ENST00000544719.2_Silent_p.D263D|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Silent_p.D270D	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	263					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TTCCATACTGGTCACATTTAT	0.433																																							uc002ozd.3		NA																	0				ovary(2)|skin(2)	4						c.(787-789)GAC>GAT		zinc finger protein 285							77.0	86.0	83.0					19																	44891618		2202	4295	6497	SO:0001819	synonymous_variant	26974				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44891618G>A	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.789C>T	19.37:g.44891618G>A						ZFP112_uc010xwz.1_Intron|ZNF285_uc010xxa.1_Silent_p.D270D	p.D263D	NM_152354	NP_689567	Q96NJ3	ZN285_HUMAN			4	876	-			263			C2H2-type 2; degenerate.		Q17RJ3|Q6B0A8|Q6ISR5	Silent	SNP	ENST00000330997.4	37	c.789C>T	CCDS12638.1																																																																																				0.433	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		35	81	0	0	0	0.003271	0	35	81				
IRF2BP1	26145	broad.mit.edu	37	19	46388248	46388248	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr19:46388248G>A	ENST00000302165.3	-	1	1128	c.785C>T	c.(784-786)aCt>aTt	p.T262I		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	262					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)			cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		AGGACGGGCAGTAGCATCGAA	0.627																																							uc002pds.1		NA																	0					0						c.(784-786)ACT>ATT		interferon regulatory factor 2 binding protein							70.0	61.0	64.0					19																	46388248		2202	4300	6502	SO:0001583	missense	26145				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr19:46388248G>A	AY278022	CCDS12678.1	19q13.32	2008-02-05							21728	protein-coding gene	gene with protein product		615331				12799427	Standard	NM_015649		Approved	DKFZP434M154, IRF-2BP1	uc002pds.1	Q8IU81		ENST00000302165.3:c.785C>T	19.37:g.46388248G>A	ENSP00000307265:p.Thr262Ile						p.T262I	NM_015649	NP_056464	Q8IU81	I2BP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)	1	1129	-		all_neural(266;0.113)|Ovarian(192;0.127)	262					Q53EL7|Q6DC95|Q9BRZ9|Q9Y4P4	Missense_Mutation	SNP	ENST00000302165.3	37	c.785C>T	CCDS12678.1	.	.	.	.	.	.	.	.	.	.	G	5.045	0.193934	0.09599	.	.	ENSG00000170604	ENST00000302165	T	0.17370	2.28	4.43	4.43	0.53597	.	0.785124	0.11356	U	0.572432	T	0.12732	0.0309	N	0.14661	0.345	0.09310	N	1	B	0.15930	0.015	B	0.06405	0.002	T	0.16188	-1.0411	10	0.54805	T	0.06	.	14.5697	0.68203	0.0:0.0:1.0:0.0	.	262	Q8IU81	I2BP1_HUMAN	I	262	ENSP00000307265:T262I	ENSP00000307265:T262I	T	-	2	0	IRF2BP1	51080088	0.006000	0.16342	0.039000	0.18376	0.357000	0.29423	1.585000	0.36600	2.271000	0.75665	0.561000	0.74099	ACT		0.627	IRF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461683.1	NM_015649		3	77	0	0	0	0.004672	0	3	77				
SIGLEC12	89858	broad.mit.edu	37	19	51994907	51994907	+	Silent	SNP	G	G	A			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr19:51994907G>A	ENST00000291707.3	-	8	1831	c.1776C>T	c.(1774-1776)aaC>aaT	p.N592N	SIGLEC12_ENST00000598614.1_Silent_p.N474N	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	592					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		ACTTGGGGATGTTGATCTCGG	0.532																																							uc002pwx.1		NA																	0				ovary(3)|skin(2)	5						c.(1774-1776)AAC>AAT		sialic acid binding immunoglobulin-like							122.0	106.0	111.0					19																	51994907		2203	4300	6503	SO:0001819	synonymous_variant	89858				cell adhesion	integral to membrane	sugar binding	g.chr19:51994907G>A	AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15482	protein-coding gene	gene with protein product		606094	"""SIGLEC-like 1"", ""sialic acid binding Ig-like lectin 12"""	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.1776C>T	19.37:g.51994907G>A						SIGLEC12_uc002pww.1_Silent_p.N474N|SIGLEC12_uc010eoy.1_Silent_p.N319N	p.N592N	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)	8	1832	-		all_neural(266;0.0199)	592			Cytoplasmic (Potential).		Q8IYH7	Silent	SNP	ENST00000291707.3	37	c.1776C>T	CCDS12833.1																																																																																				0.532	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003		32	115	0	0	0	0.004878	0	32	115				
ZNF613	79898	broad.mit.edu	37	19	52447726	52447726	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr19:52447726C>A	ENST00000293471.6	+	6	1269	c.590C>A	c.(589-591)aCt>aAt	p.T197N	ZNF613_ENST00000391794.4_Missense_Mutation_p.T161N	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	197					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		CATCAGCGAACTCAAAACATA	0.408																																							uc002pxz.1		NA																	0				ovary(1)	1						c.(589-591)ACT>AAT		zinc finger protein 613 isoform 1							196.0	209.0	204.0					19																	52447726		2203	4300	6503	SO:0001583	missense	79898				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52447726C>A	AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.590C>A	19.37:g.52447726C>A	ENSP00000293471:p.Thr197Asn					ZNF613_uc002pya.1_Missense_Mutation_p.T161N	p.T197N	NM_001031721	NP_001026891	Q6PF04	ZN613_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)	6	1013	+		all_neural(266;0.117)	197					Q96SS9	Missense_Mutation	SNP	ENST00000293471.6	37	c.590C>A	CCDS33089.1	.	.	.	.	.	.	.	.	.	.	C	9.031	0.987310	0.18889	.	.	ENSG00000176024	ENST00000293471;ENST00000391794	T;T	0.16743	2.32;2.32	3.14	3.14	0.36123	.	0.858235	0.09735	N	0.762672	T	0.24084	0.0583	L	0.43701	1.375	0.09310	N	1	P	0.40875	0.731	P	0.48840	0.592	T	0.13737	-1.0498	10	0.59425	D	0.04	.	9.9258	0.41492	0.0:1.0:0.0:0.0	.	197	Q6PF04	ZN613_HUMAN	N	197;161	ENSP00000293471:T197N;ENSP00000375671:T161N	ENSP00000293471:T197N	T	+	2	0	ZNF613	57139538	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-1.031000	0.03578	1.751000	0.51876	0.650000	0.86243	ACT		0.408	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461104.2	NM_024840		52	193	1	0	3.4597e-24	0.01441	4.72826e-24	52	193				
SRD5A2	6716	broad.mit.edu	37	2	31805965	31805965	+	RNA	SNP	T	T	A			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr2:31805965T>A	ENST00000405650.1	-	0	171							P31213	S5A2_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)						androgen biosynthetic process (GO:0006702)|androgen metabolic process (GO:0008209)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|male gonad development (GO:0008584)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|sterol 5-alpha reductase activity (GO:0009917)					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)|Finasteride(DB01216)|Spironolactone(DB00421)	GCACTGAACCTGCATCGCGCC	0.697																																							uc002rnw.1		NA																	0					0						c.(4-6)CAG>CTG		3-oxo-5 alpha-steroid 4-dehydrogenase 2	Azelaic Acid(DB00548)|Dutasteride(DB01126)						19.0	22.0	21.0					2																	31805965		2008	4153	6161			6716				androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity	g.chr2:31805965T>A	M74047	CCDS74503.1	2p23.1	2013-01-31			ENSG00000049319	ENSG00000277893	1.3.99.5		11285	protein-coding gene	gene with protein product		607306				1522235	Standard	NM_000348		Approved		uc002rnw.1	P31213	OTTHUMG00000152057		2.37:g.31805965T>A							p.Q2L	NM_000348	NP_000339	P31213	S5A2_HUMAN			1	76	-	Acute lymphoblastic leukemia(172;0.155)		2					B2RE87|Q2M1R4|Q9BYE6	Missense_Mutation	SNP	ENST00000405650.1	37	c.5A>T																																																																																					0.697	SRD5A2-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000325124.1	NM_000348		6	35	0	0	0	0.001168	0	6	35				
DHX57	90957	broad.mit.edu	37	2	39085937	39085937	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr2:39085937C>A	ENST00000295373.6	-	6	1579	c.1453G>T	c.(1453-1455)Ggt>Tgt	p.G485C	AC018693.6_ENST00000442829.1_RNA|DHX57_ENST00000479345.2_5'UTR	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	485							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				GGTGCAGGACCGTCATCCTCA	0.378																																					Melanoma(191;1090 2095 4375 23729 47341)	Melanoma(191;1090 2095 4375 23729 47341)	uc002rrf.2		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(1453-1455)GGT>TGT		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57							108.0	103.0	105.0					2																	39085937		2203	4300	6503	SO:0001583	missense	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39085937C>A	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.1453G>T	2.37:g.39085937C>A	ENSP00000295373:p.Gly485Cys					DHX57_uc002rre.2_5'UTR|DHX57_uc002rrg.2_Missense_Mutation_p.G485C	p.G485C	NM_198963	NP_945314	Q6P158	DHX57_HUMAN			6	1552	-		all_hematologic(82;0.248)	485					A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	ENST00000295373.6	37	c.1453G>T	CCDS1800.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.275075	0.80580	.	.	ENSG00000163214	ENST00000295373;ENST00000355320	T	0.10668	2.85	5.4	4.51	0.55191	.	0.267157	0.27143	N	0.020740	T	0.17662	0.0424	N	0.19112	0.55	0.45648	D	0.998579	D;P	0.76494	0.999;0.956	D;P	0.62955	0.909;0.548	T	0.03750	-1.1007	10	0.59425	D	0.04	.	14.7155	0.69265	0.0:0.9294:0.0:0.0706	.	485;485	Q6P158-2;Q6P158	.;DHX57_HUMAN	C	485;383	ENSP00000295373:G485C	ENSP00000295373:G485C	G	-	1	0	DHX57	38939441	0.908000	0.30866	1.000000	0.80357	0.948000	0.59901	1.403000	0.34612	1.382000	0.46385	0.655000	0.94253	GGT		0.378	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		12	31	1	0	2.27111e-07	0.013537	2.82168e-07	12	31				
GPR45	11250	broad.mit.edu	37	2	105858611	105858611	+	Missense_Mutation	SNP	G	G	A	rs200554082	byFrequency	TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr2:105858611G>A	ENST00000258456.1	+	1	412	c.296G>A	c.(295-297)cGc>cAc	p.R99H		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	99						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						ATCACCGTGCGCTGGCACTTT	0.632													G|||	2	0.000399361	0.0	0.0029	5008	,	,		18850	0.0		0.0	False		,,,				2504	0.0						uc002tco.1		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(295-297)CGC>CAC		G protein-coupled receptor 45		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	104.0	100.0	101.0		296	-7.3	0.0	2		101	0,8600		0,0,4300	no	missense	GPR45	NM_007227.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	99/373	105858611	1,13005	2203	4300	6503	SO:0001583	missense	11250					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr2:105858611G>A	AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"""GPCR / Class A : Orphans"""	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.296G>A	2.37:g.105858611G>A	ENSP00000258456:p.Arg99His						p.R99H	NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN			1	412	+			99			Extracellular (Potential).		Q6NWS4|Q6NXU6	Missense_Mutation	SNP	ENST00000258456.1	37	c.296G>A	CCDS2066.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	G	10.79	1.448707	0.26074	2.27E-4	0.0	ENSG00000135973	ENST00000258456	T	0.72282	-0.64	5.44	-7.27	0.01461	GPCR, rhodopsin-like superfamily (1);	0.799380	0.11531	N	0.554688	T	0.36220	0.0959	N	0.20807	0.61	0.19775	N	0.999957	B	0.06786	0.001	B	0.09377	0.004	T	0.32241	-0.9914	10	0.14252	T	0.57	-6.9239	8.5455	0.33419	0.3072:0.2073:0.4855:0.0	.	99	Q9Y5Y3	GPR45_HUMAN	H	99	ENSP00000258456:R99H	ENSP00000258456:R99H	R	+	2	0	GPR45	105225043	0.916000	0.31088	0.011000	0.14972	0.888000	0.51559	0.683000	0.25349	-1.282000	0.02396	-0.448000	0.05591	CGC		0.632	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1	NM_007227		33	140	0	0	0	0.004289	0	33	140				
LRP1B	53353	broad.mit.edu	37	2	141291668	141291668	+	Missense_Mutation	SNP	G	G	T	rs151047433		TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr2:141291668G>T	ENST00000389484.3	-	47	8655	c.7684C>A	c.(7684-7686)Cgc>Agc	p.R2562S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2562	LDL-receptor class A 12. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.R2562C(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATGCAGCGGCGATTATAGCAT	0.363										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	1	Substitution - Missense(1)	p.R2562C(1)	skin(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(7684-7686)CGC>AGC		low density lipoprotein-related protein 1B							78.0	76.0	77.0					2																	141291668		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141291668G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.7684C>A	2.37:g.141291668G>T	ENSP00000374135:p.Arg2562Ser	TSP Lung(27;0.18)					p.R2562S	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	47	8656	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2562			Extracellular (Potential).|LDL-receptor class A 12.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.7684C>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.003308	0.54254	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90844	-2.74	5.42	5.42	0.78866	.	0.074054	0.52532	U	0.000073	D	0.87059	0.6083	N	0.21617	0.685	0.34909	D	0.747283	P	0.35468	0.503	B	0.39379	0.298	D	0.88836	0.3309	10	0.39692	T	0.17	.	19.5918	0.95518	0.0:0.0:1.0:0.0	.	2562	Q9NZR2	LRP1B_HUMAN	S	2562;2500	ENSP00000374135:R2562S	ENSP00000374135:R2562S	R	-	1	0	LRP1B	141008138	1.000000	0.71417	0.998000	0.56505	0.572000	0.35998	4.919000	0.63383	2.700000	0.92200	0.563000	0.77884	CGC		0.363	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		6	31	1	0	5.9392e-07	0.001168	7.23289e-07	6	31				
LRP2	4036	broad.mit.edu	37	2	170101363	170101363	+	Silent	SNP	G	G	A	rs373632128		TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr2:170101363G>A	ENST00000263816.3	-	22	3555	c.3270C>T	c.(3268-3270)aaC>aaT	p.N1090N	LRP2_ENST00000443831.1_Silent_p.N953N	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1090	LDL-receptor class A 9. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CCACACAGTCGTTGCGTTTGT	0.512																																							uc002ues.2		NA																	0				ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(3268-3270)AAC>AAT		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						224.0	175.0	192.0					2																	170101363		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170101363G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.3270C>T	2.37:g.170101363G>A						LRP2_uc010zdf.1_Silent_p.N953N	p.N1090N	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	22	3483	-			1090			LDL-receptor class A 9.|Extracellular (Potential).		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.3270C>T	CCDS2232.1																																																																																				0.512	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		31	134	0	0	0	0.013726	0	31	134				
ZMYND8	23613	broad.mit.edu	37	20	45875019	45875019	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr20:45875019G>C	ENST00000311275.7	-	14	2210	c.1957C>G	c.(1957-1959)Cca>Gca	p.P653A	ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000461685.1_Missense_Mutation_p.P673A|ZMYND8_ENST00000352431.2_Missense_Mutation_p.P673A|ZMYND8_ENST00000396281.4_Missense_Mutation_p.P653A|ZMYND8_ENST00000262975.4_Missense_Mutation_p.P653A|ZMYND8_ENST00000458360.2_Missense_Mutation_p.P648A|ZMYND8_ENST00000355972.4_Missense_Mutation_p.P653A|ZMYND8_ENST00000446994.2_Missense_Mutation_p.P590A|ZMYND8_ENST00000360911.3_Missense_Mutation_p.P648A|ZMYND8_ENST00000540497.1_Missense_Mutation_p.P601A|ZMYND8_ENST00000536340.1_Missense_Mutation_p.P680A|ZMYND8_ENST00000372023.3_Missense_Mutation_p.P648A|ZMYND8_ENST00000471951.2_Missense_Mutation_p.P673A	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	653					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TCGCTGGCTGGTGACGTGCTT	0.507																																							uc002xta.1		NA																	0				central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5						c.(1957-1959)CCA>GCA		zinc finger, MYND-type containing 8 isoform b							247.0	232.0	237.0					20																	45875019		2203	4300	6503	SO:0001583	missense	23613						protein binding|zinc ion binding	g.chr20:45875019G>C	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.1957C>G	20.37:g.45875019G>C	ENSP00000312237:p.Pro653Ala					ZMYND8_uc010ghq.1_Missense_Mutation_p.P330A|ZMYND8_uc010ghr.1_Missense_Mutation_p.P628A|ZMYND8_uc002xst.1_Missense_Mutation_p.P581A|ZMYND8_uc002xsu.1_Missense_Mutation_p.P653A|ZMYND8_uc002xsv.1_Missense_Mutation_p.P581A|ZMYND8_uc002xsw.1_Missense_Mutation_p.P405A|ZMYND8_uc002xsx.1_Missense_Mutation_p.P405A|ZMYND8_uc002xsy.1_Missense_Mutation_p.P628A|ZMYND8_uc002xsz.1_Missense_Mutation_p.P590A|ZMYND8_uc010zxy.1_Missense_Mutation_p.P680A|ZMYND8_uc002xtb.1_Missense_Mutation_p.P673A|ZMYND8_uc002xss.2_Missense_Mutation_p.P653A|ZMYND8_uc010zxz.1_Missense_Mutation_p.P648A|ZMYND8_uc002xtc.1_Missense_Mutation_p.P673A|ZMYND8_uc002xtd.1_Missense_Mutation_p.P648A|ZMYND8_uc002xte.1_Missense_Mutation_p.P653A|ZMYND8_uc010zya.1_Missense_Mutation_p.P653A|ZMYND8_uc002xtf.1_Missense_Mutation_p.P673A|ZMYND8_uc002xtg.2_Missense_Mutation_p.P647A|ZMYND8_uc010ghs.1_Missense_Mutation_p.P647A	p.P653A	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		14	2211	-			653					B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	37	c.1957C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.336|3.336	-0.135702|-0.135702	0.06711|0.06711	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497|ENST00000467200	D;D;D;D;D;D;D;D;D;D;D|.	0.89050|.	-1.6;-1.52;-1.67;-1.5;-1.63;-1.53;-1.52;-2.46;-1.5;-1.6;-1.63|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	0.246853|.	0.42420|.	D|.	0.000716|.	T|T	0.57154|0.57154	0.2034|0.2034	L|L	0.56769|0.56769	1.78|1.78	0.33413|0.33413	D|D	0.578845|0.578845	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B|.	0.28971|.	0.164;0.013;0.02;0.002;0.101;0.002;0.013;0.061;0.162;0.002;0.061;0.001;0.036;0.036;0.001;0.229;0.036;0.002|.	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B|.	0.30572|.	0.037;0.006;0.019;0.002;0.021;0.002;0.004;0.061;0.052;0.004;0.043;0.002;0.028;0.028;0.002;0.117;0.014;0.002|.	T|T	0.66728|0.66728	-0.5850|-0.5850	10|5	0.12766|.	T|.	0.61|.	-6.9017|-6.9017	9.3724|9.3724	0.38261|0.38261	0.0713:0.0:0.7843:0.1445|0.0713:0.0:0.7843:0.1445	.|.	648;680;648;648;628;647;673;653;648;673;673;653;590;648;601;673;601;653|.	B7ZM62;F5H0X3;Q2HXV7;Q2HXV3;Q5TH11;Q5JV90;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8|.	.;.;.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.|.	A|S	648;653;648;654;674;673;653;680;653;590;673;648;601|580	ENSP00000354166:P648A;ENSP00000312237:P653A;ENSP00000392964:P648A;ENSP00000335537:P673A;ENSP00000379577:P653A;ENSP00000439800:P680A;ENSP00000348246:P653A;ENSP00000396725:P590A;ENSP00000418210:P673A;ENSP00000361093:P648A;ENSP00000443086:P601A|.	ENSP00000262975:P654A|.	P|T	-|-	1|2	0|0	ZMYND8|ZMYND8	45308426|45308426	1.000000|1.000000	0.71417|0.71417	0.178000|0.178000	0.23040|0.23040	0.018000|0.018000	0.09664|0.09664	3.910000|3.910000	0.56371|0.56371	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	CCA|ACC		0.507	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		24	83	0	0	0	0.004656	0	24	83				
SCN11A	11280	broad.mit.edu	37	3	38988324	38988324	+	Silent	SNP	A	A	G			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr3:38988324A>G	ENST00000302328.3	-	2	540	c.342T>C	c.(340-342)ccT>ccC	p.P114P	SCN11A_ENST00000456224.3_Silent_p.P114P|SCN11A_ENST00000450244.1_Silent_p.P114P|SCN11A_ENST00000444237.2_Silent_p.P114P	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	114					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)	TTGAATTGAAAGGCCCAAAAA	0.383																																							uc011ays.1		NA																	0				skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9						c.(340-342)CCT>CCC		sodium channel, voltage-gated, type XI, alpha	Cocaine(DB00907)						181.0	173.0	176.0					3																	38988324		2203	4300	6503	SO:0001819	synonymous_variant	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38988324A>G	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.342T>C	3.37:g.38988324A>G							p.P114P	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	2	541	-			114					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Silent	SNP	ENST00000302328.3	37	c.342T>C	CCDS33737.1																																																																																				0.383	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		4	65	0	0	0	0.009096	0	4	65				
ZNF619	285267	broad.mit.edu	37	3	40528959	40528959	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr3:40528959G>T	ENST00000314686.5	+	6	1315	c.910G>T	c.(910-912)Gaa>Taa	p.E304*	ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000522736.1_Nonsense_Mutation_p.E311*|ZNF619_ENST00000432264.2_Nonsense_Mutation_p.E320*|ZNF619_ENST00000429348.2_Nonsense_Mutation_p.E320*|ZNF619_ENST00000447116.2_Nonsense_Mutation_p.E360*|ZNF619_ENST00000456778.1_Nonsense_Mutation_p.E276*|ZNF619_ENST00000521353.1_Nonsense_Mutation_p.E360*			Q8N2I2	ZN619_HUMAN	zinc finger protein 619	304					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TAAATGTAAGGAATGTGGGAA	0.423																																							uc011azb.1		NA																	0				ovary(1)	1						c.(1078-1080)GAA>TAA		zinc finger protein 619 isoform 1							75.0	76.0	76.0					3																	40528959		2203	4300	6503	SO:0001587	stop_gained	285267				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr3:40528959G>T	AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"""Zinc fingers, C2H2-type"", ""-"""	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.910G>T	3.37:g.40528959G>T	ENSP00000322529:p.Glu304*					ZNF619_uc010hhz.2_Nonsense_Mutation_p.E311*|ZNF619_uc003ckj.2_Nonsense_Mutation_p.E304*|ZNF619_uc011azc.1_Nonsense_Mutation_p.E320*|ZNF619_uc011azd.1_Nonsense_Mutation_p.E276*|ZNF619_uc011aza.1_Nonsense_Mutation_p.E262*	p.E360*	NM_001145082	NP_001138554	E9PCD9	E9PCD9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	6	1356	+			360					B4E271|C9JRN5|D4PHA2|E9PCD9	Nonsense_Mutation	SNP	ENST00000314686.5	37	c.1078G>T		.	.	.	.	.	.	.	.	.	.	G	36	5.967111	0.97156	.	.	ENSG00000177873	ENST00000314686;ENST00000447116;ENST00000429348;ENST00000456778;ENST00000522736;ENST00000521353;ENST00000432264	.	.	.	2.54	1.61	0.23674	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	8.1622	0.31204	0.0:0.0:0.7584:0.2416	.	.	.	.	X	304;360;320;276;311;360;320	.	ENSP00000322529:E304X	E	+	1	0	ZNF619	40503963	0.000000	0.05858	0.814000	0.32528	0.979000	0.70002	-0.072000	0.11486	0.364000	0.24374	0.563000	0.77884	GAA		0.423	ZNF619-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000254180.2	NM_173656		16	33	1	0	5.01169e-05	0.00499	5.87084e-05	16	33				
CXCR6	10663	broad.mit.edu	37	3	45988860	45988860	+	Missense_Mutation	SNP	G	G	A	rs141955108		TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr3:45988860G>A	ENST00000458629.1	+	1	2350	c.887G>A	c.(886-888)cGa>cAa	p.R296Q	CXCR6_ENST00000304552.4_Missense_Mutation_p.R296Q|FYCO1_ENST00000535325.1_Intron|CXCR6_ENST00000438735.1_Missense_Mutation_p.R296Q|FYCO1_ENST00000296137.2_Intron|FYCO1_ENST00000438446.1_Intron|CXCR6_ENST00000457814.1_Missense_Mutation_p.R296Q			O00574	CXCR6_HUMAN	chemokine (C-X-C motif) receptor 6	296					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|viral genome replication (GO:0019079)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CTGAAGTTTCGAAAGAACTTC	0.473																																					Esophageal Squamous(63;1005 1117 15521 45762 47089)	Esophageal Squamous(63;1005 1117 15521 45762 47089)	uc003cpc.1		NA																	0				skin(1)	1						c.(886-888)CGA>CAA		G protein-coupled receptor TYMSTR		G	GLN/ARG,	0,4406		0,0,2203	110.0	99.0	103.0		887,	5.0	0.9	3	dbSNP_134	103	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron	CXCR6,FYCO1	NM_006564.1,NM_024513.2	43,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,	296/343,	45988860	1,13005	2203	4300	6503	SO:0001583	missense	10663				viral genome replication	integral to plasma membrane	coreceptor activity	g.chr3:45988860G>A	AF007545	CCDS2735.1	3p21	2012-08-08			ENSG00000172215	ENSG00000172215		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	16647	protein-coding gene	gene with protein product		605163				9166430, 9230441	Standard	XM_005264809		Approved	TYMSTR, STRL33, BONZO, CD186	uc003cpc.1	O00574	OTTHUMG00000133448	ENST00000458629.1:c.887G>A	3.37:g.45988860G>A	ENSP00000395704:p.Arg296Gln					FYCO1_uc003cpb.3_Intron|FYCO1_uc011bal.1_Intron|CXCR6_uc010hix.1_Missense_Mutation_p.R296Q	p.R296Q	NM_006564	NP_006555	O00574	CXCR6_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)	2	968	+			296			Cytoplasmic (Potential).		O00575|Q9HCA5	Missense_Mutation	SNP	ENST00000458629.1	37	c.887G>A	CCDS2735.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.797721	0.90538	0.0	1.16E-4	ENSG00000172215	ENST00000438735;ENST00000304552;ENST00000458629;ENST00000457814	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	5.83	4.96	0.65561	.	0.049616	0.85682	N	0.000000	T	0.45975	0.1369	M	0.68952	2.095	0.40791	D	0.983252	P	0.46952	0.887	B	0.30495	0.116	T	0.57236	-0.7846	10	0.62326	D	0.03	.	13.8461	0.63468	0.0742:0.0:0.9257:0.0	.	296	O00574	CXCR6_HUMAN	Q	296	ENSP00000396218:R296Q;ENSP00000304414:R296Q;ENSP00000395704:R296Q;ENSP00000396886:R296Q	ENSP00000304414:R296Q	R	+	2	0	CXCR6	45963864	0.982000	0.34865	0.933000	0.37362	0.975000	0.68041	4.928000	0.63447	1.481000	0.48307	0.561000	0.74099	CGA		0.473	CXCR6-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344395.1			5	39	0	0	0	0.001168	0	5	39				
STAB1	23166	broad.mit.edu	37	3	52556586	52556586	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr3:52556586T>A	ENST00000321725.6	+	61	6702	c.6626T>A	c.(6625-6627)gTt>gAt	p.V2209D		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2209	Link. {ECO:0000255|PROSITE- ProRule:PRU00323, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CGGGCTGGCGTTTTCCACCTC	0.612																																							uc003dej.2		NA																	0				large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9						c.(6625-6627)GTT>GAT		stabilin 1 precursor							77.0	79.0	79.0					3																	52556586		2203	4300	6503	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52556586T>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.6626T>A	3.37:g.52556586T>A	ENSP00000312946:p.Val2209Asp					STAB1_uc003dek.1_Missense_Mutation_p.V224D|STAB1_uc003del.2_Missense_Mutation_p.V96D	p.V2209D	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	61	6700	+			2209			Extracellular (Potential).|Link.		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.6626T>A	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.641737	0.87859	.	.	ENSG00000010327	ENST00000321725	T	0.50001	0.76	5.75	5.75	0.90469	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.000000	0.85682	D	0.000000	T	0.78616	0.4311	H	0.96547	3.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84569	0.0654	10	0.49607	T	0.09	.	15.7164	0.77672	0.0:0.0:0.0:1.0	.	96;2209	B3KSK0;Q9NY15	.;STAB1_HUMAN	D	2209	ENSP00000312946:V2209D	ENSP00000312946:V2209D	V	+	2	0	STAB1	52531626	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	6.798000	0.75155	2.192000	0.70111	0.459000	0.35465	GTT		0.612	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		3	93	0	0	0	0.004672	0	3	93				
ALDH1L1	10840	broad.mit.edu	37	3	125828895	125828895	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr3:125828895C>T	ENST00000393434.2	-	20	2588	c.2239G>A	c.(2239-2241)Ggg>Agg	p.G747R	ALDH1L1_ENST00000452905.2_Missense_Mutation_p.G646R|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.G757R|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.G747R|ALDH1L1-AS1_ENST00000512384.1_RNA	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	747	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)	p.G747R(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TTCTGCGGCCCGTGGTCGGTG	0.607																																							uc003eim.1		NA																	1	Substitution - Missense(1)		kidney(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(2239-2241)GGG>AGG		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						146.0	118.0	127.0					3																	125828895		2203	4300	6503	SO:0001583	missense	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125828895C>T	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.2239G>A	3.37:g.125828895C>T	ENSP00000377083:p.Gly747Arg					ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Missense_Mutation_p.G646R|ALDH1L1_uc003ein.1_Missense_Mutation_p.G282R	p.G747R	NM_012190	NP_036322	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	20	2429	-			747			Aldehyde dehydrogenase.		B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	c.2239G>A	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.228755	0.58777	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434	D;D;D;D	0.90261	-2.64;-2.64;-2.64;-2.64	3.91	3.91	0.45181	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.97679	0.9239	H	0.99911	4.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98235	1.0485	10	0.87932	D	0	.	13.431	0.61055	0.0:1.0:0.0:0.0	.	646;282;747	E9PBX3;Q6ZV71;O75891	.;.;AL1L1_HUMAN	R	757;747;646;747	ENSP00000273450:G757R;ENSP00000420293:G747R;ENSP00000395881:G646R;ENSP00000377083:G747R	ENSP00000273450:G757R	G	-	1	0	ALDH1L1	127311585	1.000000	0.71417	0.994000	0.49952	0.172000	0.22775	6.979000	0.76154	2.032000	0.59987	0.491000	0.48974	GGG		0.607	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		25	45	0	0	0	0.00632	0	25	45				
LRCH3	84859	broad.mit.edu	37	3	197518157	197518157	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr3:197518157C>T	ENST00000425562.2	+	1	8	c.8C>T	c.(7-9)gCc>gTc	p.A3V	LRCH3_ENST00000334859.4_Missense_Mutation_p.A3V|LRCH3_ENST00000438796.2_Missense_Mutation_p.A3V|LRCH3_ENST00000441090.2_Missense_Mutation_p.A3V|LRCH3_ENST00000414675.2_Missense_Mutation_p.A3V|RP11-803P9.1_ENST00000610089.1_lincRNA			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	3						cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		GAAATGGCGGCCGCGGGCTTG	0.716																																							uc011bul.1		NA																	0				ovary(1)	1						c.(7-9)GCC>GTC		leucine-rich repeats and calponin homology (CH)							11.0	14.0	13.0					3																	197518157		1891	3775	5666	SO:0001583	missense	84859					extracellular region		g.chr3:197518157C>T	AL137527	CCDS3330.1	3q29	2006-04-12			ENSG00000186001	ENSG00000186001			28637	protein-coding gene	gene with protein product						12477932	Standard	NM_032773		Approved	MGC4126	uc003fyj.1	Q96II8	OTTHUMG00000155378	ENST00000425562.2:c.8C>T	3.37:g.197518157C>T	ENSP00000393579:p.Ala3Val					LRCH3_uc003fyj.1_Missense_Mutation_p.A3V|LRCH3_uc011bum.1_Missense_Mutation_p.A3V|LRCH3_uc011bun.1_Missense_Mutation_p.A3V	p.A3V	NM_032773	NP_116162	Q96II8	LRCH3_HUMAN	Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)	1	13	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		3					B4E0T7|Q96FP9|Q9NT52	Missense_Mutation	SNP	ENST00000425562.2	37	c.8C>T		.	.	.	.	.	.	.	.	.	.	C	16.37	3.104156	0.56291	.	.	ENSG00000186001	ENST00000438796;ENST00000441090;ENST00000414675;ENST00000334859;ENST00000425562	T;T;T;T;T	0.47869	1.9;0.83;1.99;2.16;1.92	4.3	4.3	0.51218	.	0.313785	0.30401	N	0.009713	T	0.61565	0.2357	M	0.61703	1.905	0.80722	D	1	D;D;D;D	0.64830	0.989;0.97;0.994;0.994	P;P;D;D	0.63703	0.828;0.681;0.917;0.917	T	0.65311	-0.6199	10	0.87932	D	0	-9.0911	11.8453	0.52381	0.1749:0.8251:0.0:0.0	.	3;3;3;3	E9PD99;B4E0T7;Q96II8-2;Q96II8-3	.;.;.;.	V	3	ENSP00000399751:A3V;ENSP00000394609:A3V;ENSP00000394965:A3V;ENSP00000334375:A3V;ENSP00000393579:A3V	ENSP00000334375:A3V	A	+	2	0	LRCH3	199002554	0.994000	0.37717	1.000000	0.80357	0.924000	0.55760	2.941000	0.49011	2.248000	0.74166	0.579000	0.79373	GCC		0.716	LRCH3-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000339965.1	NM_032773		6	9	0	0	0	0.004482	0	6	9				
KDR	3791	broad.mit.edu	37	4	55981108	55981109	+	Missense_Mutation	DNP	CA	CA	AT			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	CA	CA	-	-	CA	CA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr4:55981108_55981109CA>AT	ENST00000263923.4	-	5	885_886	c.590_591TG>AT	c.(589-591)aTG>aAT	p.M197N		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	197	Ig-like C2-type 2.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CACAGAAGACCATGCCAGCATA	0.381			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																													uc003has.2		NA		Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			NSCLC|angiosarcoma		0				lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33						c.(589-591)ATG>AAT		kinase insert domain receptor precursor	Sorafenib(DB00398)|Sunitinib(DB01268)																																			SO:0001583	missense	3791	Familial_Infantile_Hemangioma			angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55981108_55981109CA>AT	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.590_591delinsAT	4.37:g.55981108_55981109delinsAT	ENSP00000263923:p.Met197Asn	TSP Lung(20;0.16)				KDR_uc003hat.1_Missense_Mutation_p.M197N|KDR_uc011bzx.1_Missense_Mutation_p.M197N	p.M197N	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		5	892_893	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		197			Ig-like C2-type 2.|Extracellular (Potential).		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	DNP	ENST00000263923.4	37	c.590_591TG>AT	CCDS3497.1																																																																																				0.381	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			3	27	0	0	0	0.004672	0	3	27				
FAT4	79633	broad.mit.edu	37	4	126372162	126372162	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr4:126372162G>T	ENST00000394329.3	+	9	10004	c.9991G>T	c.(9991-9993)Ggg>Tgg	p.G3331W	FAT4_ENST00000335110.5_Missense_Mutation_p.G1629W	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3331	Cadherin 32. {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						GGGCACTGATGGGGAGGTACA	0.383																																							uc003ifj.3		NA																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(9991-9993)GGG>TGG		FAT tumor suppressor homolog 4 precursor							105.0	107.0	106.0					4																	126372162		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126372162G>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.9991G>T	4.37:g.126372162G>T	ENSP00000377862:p.Gly3331Trp					FAT4_uc011cgp.1_Missense_Mutation_p.G1629W|FAT4_uc003ifi.1_Missense_Mutation_p.G809W	p.G3331W	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			9	9991	+			3331			Cadherin 32.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.9991G>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	16.54	3.152226	0.57259	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.03553	3.89;3.89	5.27	5.27	0.74061	Cadherin (4);Cadherin-like (1);	0.000000	0.34531	U	0.003896	T	0.30417	0.0764	H	0.95402	3.665	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.48258	-0.9051	10	0.87932	D	0	.	18.9135	0.92494	0.0:0.0:1.0:0.0	.	1629;3331;3331	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	W	3331;1629	ENSP00000377862:G3331W;ENSP00000335169:G1629W	ENSP00000335169:G1629W	G	+	1	0	FAT4	126591612	1.000000	0.71417	0.993000	0.49108	0.499000	0.33736	9.666000	0.98612	2.465000	0.83290	0.655000	0.94253	GGG		0.383	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		8	57	1	0	3.09899e-07	0.004482	3.81175e-07	8	57				
GLRB	2743	broad.mit.edu	37	4	158060005	158060005	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr4:158060005G>T	ENST00000264428.4	+	7	925	c.655G>T	c.(655-657)Gat>Tat	p.D219Y	GLRB_ENST00000541722.1_Missense_Mutation_p.D219Y|GLRB_ENST00000509282.1_Missense_Mutation_p.D219Y|GLRB_ENST00000512619.1_Intron	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	219					acrosome reaction (GO:0007340)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|extracellular-glycine-gated ion channel activity (GO:0016933)|glycine binding (GO:0016594)			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Enflurane(DB00228)|Glycine(DB00145)|Lindane(DB00431)	GCAGTCAGGAGATCCTGTGCA	0.284																																							uc003ipj.2		NA																	0				skin(2)	2						c.(655-657)GAT>TAT		glycine receptor, beta isoform A precursor	Glycine(DB00145)						77.0	84.0	81.0					4																	158060005		2203	4294	6497	SO:0001583	missense	2743				nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity	g.chr4:158060005G>T	U33267	CCDS3796.1, CCDS54813.1	4q31.3	2008-02-05			ENSG00000109738	ENSG00000109738			4329	protein-coding gene	gene with protein product		138492				9676428, 8717357	Standard	NM_000824		Approved		uc003ipj.2	P48167	OTTHUMG00000161954	ENST00000264428.4:c.655G>T	4.37:g.158060005G>T	ENSP00000264428:p.Asp219Tyr						p.D219Y	NM_000824	NP_000815	P48167	GLRB_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	7	857	+	all_hematologic(180;0.24)	Renal(120;0.0458)	219			Extracellular (Probable).		A8K3K2|D3DP23|F5GWE1	Missense_Mutation	SNP	ENST00000264428.4	37	c.655G>T	CCDS3796.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.518573	0.85495	.	.	ENSG00000109738	ENST00000264428;ENST00000541722;ENST00000509282	T;T;T	0.79247	-1.25;-1.25;-1.25	5.5	5.5	0.81552	Neurotransmitter-gated ion-channel ligand-binding (3);	0.049717	0.85682	D	0.000000	D	0.84687	0.5527	L	0.48174	1.505	0.80722	D	1	D	0.65815	0.995	D	0.65233	0.933	D	0.85501	0.1191	10	0.66056	D	0.02	.	19.3898	0.94576	0.0:0.0:1.0:0.0	.	219	P48167	GLRB_HUMAN	Y	219	ENSP00000264428:D219Y;ENSP00000441873:D219Y;ENSP00000427186:D219Y	ENSP00000264428:D219Y	D	+	1	0	GLRB	158279455	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.638000	0.83328	2.586000	0.87340	0.650000	0.86243	GAT		0.284	GLRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366507.1	NM_000824		8	37	1	0	1.58986e-06	0.008291	1.91719e-06	8	37				
CPE	1363	broad.mit.edu	37	4	166408697	166408698	+	Missense_Mutation	DNP	AA	AA	TT			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	AA	AA	-	-	AA	AA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr4:166408697_166408698AA>TT	ENST00000402744.4	+	6	1361_1362	c.1081_1082AA>TT	c.(1081-1083)AAc>TTc	p.N361F		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	361					cardiac left ventricle morphogenesis (GO:0003214)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|insulin processing (GO:0030070)|metabolic process (GO:0008152)|neuropeptide signaling pathway (GO:0007218)|protein localization to membrane (GO:0072657)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)	carboxypeptidase activity (GO:0004180)|cell adhesion molecule binding (GO:0050839)|metallocarboxypeptidase activity (GO:0004181)|neurexin family protein binding (GO:0042043)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CTGGGAGGATAACAAAAACTCC	0.441																																							uc003irg.3		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(1081-1083)AAC>TTC		carboxypeptidase E preproprotein	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)																																			SO:0001583	missense	1363				cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding	g.chr4:166408697_166408698AA>TT	X51405	CCDS3810.1	4q32.3	2012-02-10			ENSG00000109472	ENSG00000109472	3.4.17.10		2303	protein-coding gene	gene with protein product	"""carboxypeptidase H"", ""enkephalin convertase"", ""insulin granule-associated carboxypeptidase"", ""cobalt-stimulated chromaffin granule carboxypeptidase"""	114855				2334405	Standard	NM_001873		Approved		uc003irg.4	P16870	OTTHUMG00000150252	Exception_encountered	4.37:g.166408697_166408698delinsTT	ENSP00000386104:p.Asn361Phe						p.N361F	NM_001873	NP_001864	P16870	CBPE_HUMAN		GBM - Glioblastoma multiforme(119;0.137)	6	1358_1359	+	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)	361					A8K4N1|B3KR42|B4DFN4|D3DP33|Q9UIU9	Missense_Mutation	DNP	ENST00000402744.4	37	c.1081_1082AA>TT	CCDS3810.1																																																																																				0.441	CPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317094.2	NM_001873		3	32	0	0	0	0.004672	0	3	32				
PCDHB15	56121	broad.mit.edu	37	5	140627195	140627195	+	Silent	SNP	C	C	T	rs547413472		TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr5:140627195C>T	ENST00000231173.3	+	1	2049	c.2049C>T	c.(2047-2049)gcC>gcT	p.A683A		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	683					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)	p.A683A(1)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAGCCCAGGCCGACTCGCTTA	0.672																																							uc003lje.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)|skin(1)	5						c.(2047-2049)GCC>GCT		protocadherin beta 15 precursor							68.0	74.0	72.0					5																	140627195		2198	4288	6486	SO:0001819	synonymous_variant	56121				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140627195C>T	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.2049C>T	5.37:g.140627195C>T							p.A683A	NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2049	+			683			Extracellular (Potential).		Q8IUX5	Silent	SNP	ENST00000231173.3	37	c.2049C>T	CCDS4257.1																																																																																				0.672	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		46	132	0	0	0	0.013114	0	46	132				
ZBED8	63920	broad.mit.edu	37	5	159822295	159822295	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr5:159822295T>A	ENST00000408953.3	-	2	710	c.203A>T	c.(202-204)cAt>cTt	p.H68L	C5orf54_ENST00000523213.1_Missense_Mutation_p.H68L	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						tgctggcatatgcttcaggct	0.408																																							uc003lye.1		NA																	0				pancreas(1)	1						c.(202-204)CAT>CTT		transposon-derived Buster3 transposase-like							169.0	154.0	159.0					5																	159822295		2203	4300	6503	SO:0001583	missense	63920							g.chr5:159822295T>A																												ENST00000408953.3:c.203A>T	5.37:g.159822295T>A	ENSP00000386184:p.His68Leu					C5orf54_uc003lyf.1_Missense_Mutation_p.H68L	p.H68L	NM_022090	NP_071373	Q8IZ13	CE054_HUMAN			2	667	-			68						Missense_Mutation	SNP	ENST00000408953.3	37	c.203A>T	CCDS34283.1	.	.	.	.	.	.	.	.	.	.	T	4.779	0.144941	0.09134	.	.	ENSG00000221886	ENST00000408953;ENST00000523213	T;T	0.13420	2.59;2.59	3.57	1.01	0.19927	.	.	.	.	.	T	0.08846	0.0219	N	0.19112	0.55	0.25690	N	0.985693	P	0.44344	0.833	P	0.44477	0.451	T	0.25047	-1.0143	9	0.11182	T	0.66	.	7.706	0.28650	0.0:0.0:0.4311:0.5689	.	68	Q8IZ13	CE054_HUMAN	L	68	ENSP00000386184:H68L;ENSP00000428831:H68L	ENSP00000386184:H68L	H	-	2	0	C5orf54	159754873	0.246000	0.23909	0.925000	0.36789	0.732000	0.41865	0.081000	0.14823	0.211000	0.20683	0.528000	0.53228	CAT		0.408	C5orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374143.1			16	99	0	0	0	0.00499	0	16	99				
THOC3	84321	broad.mit.edu	37	5	175387036	175387036	+	Missense_Mutation	SNP	C	C	A	rs139761351		TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr5:175387036C>A	ENST00000265097.4	-	6	1082	c.992G>T	c.(991-993)gGc>gTc	p.G331V	THOC3_ENST00000510300.1_5'Flank|RP11-91H12.4_ENST00000502813.1_RNA|THOC3_ENST00000514861.1_Missense_Mutation_p.G146V	NM_032361.2	NP_115737.1	Q96J01	THOC3_HUMAN	THO complex 3	331					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)	p.G331D(1)		endometrium(1)|kidney(1)|large_intestine(2)	4	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		GTCATATTTGCCGTCTTTGTC	0.557																																							uc003mdg.3		NA																	1	Substitution - Missense(1)		kidney(1)		0						c.(991-993)GGC>GTC		THO complex 3		C	VAL/GLY	0,3802		0,0,1901	28.0	33.0	31.0		992	4.3	1.0	5	dbSNP_134	31	1,7317		0,1,3658	no	missense	THOC3	NM_032361.2	109	0,1,5559	AA,AC,CC		0.0137,0.0,0.0090	benign	331/352	175387036	1,11119	1901	3659	5560	SO:0001583	missense	84321				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	transcription export complex	RNA binding	g.chr5:175387036C>A	BC006849	CCDS4397.1	5q35.3	2013-02-11			ENSG00000051596	ENSG00000051596		"""WD repeat domain containing"", ""THO complex subunits"""	19072	protein-coding gene	gene with protein product		606929				11979277	Standard	NM_032361		Approved	TEX1, MGC5469	uc003mdg.5	Q96J01	OTTHUMG00000130658	ENST00000265097.4:c.992G>T	5.37:g.175387036C>A	ENSP00000265097:p.Gly331Val						p.G331V	NM_032361	NP_115737	Q96J01	THOC3_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)	6	1326	-	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	331					Q6NZ53	Missense_Mutation	SNP	ENST00000265097.4	37	c.992G>T	CCDS4397.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.552071	0.65311	0.0	1.37E-4	ENSG00000051596	ENST00000265097;ENST00000514861	T;T	0.74947	0.24;-0.89	5.13	4.27	0.50696	.	0.000000	0.85682	D	0.000000	T	0.64227	0.2579	L	0.47716	1.5	0.80722	D	1	B	0.18741	0.03	B	0.12156	0.007	T	0.56878	-0.7906	10	0.09590	T	0.72	-22.839	12.6741	0.56884	0.0:0.9199:0.0:0.0801	.	331	Q96J01	THOC3_HUMAN	V	331;146	ENSP00000265097:G331V;ENSP00000425039:G146V	ENSP00000265097:G331V	G	-	2	0	THOC3	175319642	1.000000	0.71417	1.000000	0.80357	0.593000	0.36681	7.743000	0.85020	1.159000	0.42565	-0.192000	0.12808	GGC		0.557	THOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253148.1			4	31	1	0	0.000219431	0.00245	0.000247615	4	31				
ZNF354B	117608	broad.mit.edu	37	5	178310482	178310482	+	Silent	SNP	A	A	G			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr5:178310482A>G	ENST00000322434.3	+	5	1255	c.1029A>G	c.(1027-1029)ggA>ggG	p.G343G	RNU1-39P_ENST00000383897.1_RNA	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	343					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(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCTTTCTGGAAGTCAGAAAA	0.398																																							uc003mjl.2		NA																	0				ovary(2)	2						c.(1027-1029)GGA>GGG		zinc finger protein 354B							84.0	89.0	87.0					5																	178310482		2203	4299	6502	SO:0001819	synonymous_variant	117608				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178310482A>G	AK057737	CCDS4439.1	5q35.3	2013-01-08			ENSG00000178338	ENSG00000178338		"""Zinc fingers, C2H2-type"", ""-"""	17197	protein-coding gene	gene with protein product							Standard	NM_058230		Approved	KID2, FLJ25008	uc003mjl.3	Q96LW1	OTTHUMG00000130896	ENST00000322434.3:c.1029A>G	5.37:g.178310482A>G						ZNF354B_uc003mjm.2_Silent_p.G343G	p.G343G	NM_058230	NP_478137	Q96LW1	Z354B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	1255	+	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	343					A8K0V2|Q5U5Z4	Silent	SNP	ENST00000322434.3	37	c.1029A>G	CCDS4439.1																																																																																				0.398	ZNF354B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253482.1	NM_058230		11	38	0	0	0	0.010729	0	11	38				
ATXN1	6310	broad.mit.edu	37	6	16328069	16328069	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr6:16328069G>T	ENST00000244769.4	-	8	1409	c.473C>A	c.(472-474)gCa>gAa	p.A158E	ATXN1_ENST00000436367.1_Missense_Mutation_p.A158E	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	158					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CGAGGCCACTGCACTGGTGAC	0.627																																							uc003nbt.2		NA																	0				skin(3)|central_nervous_system(1)	4						c.(472-474)GCA>GAA		ataxin 1							55.0	62.0	60.0					6																	16328069		2196	4293	6489	SO:0001583	missense	6310				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	g.chr6:16328069G>T	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.473C>A	6.37:g.16328069G>T	ENSP00000244769:p.Ala158Glu					ATXN1_uc010jpi.2_Missense_Mutation_p.A158E|ATXN1_uc010jpj.1_Intron	p.A158E	NM_000332	NP_000323	P54253	ATX1_HUMAN			8	1444	-	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)	158					Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	37	c.473C>A	CCDS34342.1	.	.	.	.	.	.	.	.	.	.	G	8.063	0.768454	0.15983	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.62232	0.04;0.04	4.54	1.63	0.23807	.	0.196770	0.33753	N	0.004600	T	0.15132	0.0365	N	0.08118	0	0.27737	N	0.944608	B	0.27498	0.18	B	0.19391	0.025	T	0.26189	-1.0110	10	0.17369	T	0.5	-10.9897	8.9256	0.35639	0.1574:0.1348:0.7077:0.0	.	158	P54253	ATX1_HUMAN	E	158	ENSP00000244769:A158E;ENSP00000416360:A158E	ENSP00000244769:A158E	A	-	2	0	ATXN1	16436048	0.262000	0.24073	0.838000	0.33150	0.076000	0.17211	2.293000	0.43558	0.542000	0.28846	0.467000	0.42956	GCA		0.627	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		34	115	1	0	1.90571e-15	0.004289	2.52045e-15	34	115				
HIST1H2AK	8330	broad.mit.edu	37	6	27806013	27806013	+	Silent	SNP	G	G	A	rs369660098		TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr6:27806013G>A	ENST00000330180.2	-	1	104	c.105C>T	c.(103-105)ctC>ctT	p.L35L	HIST1H2BN_ENST00000396980.3_5'Flank|HIST1H2BN_ENST00000606613.1_5'Flank	NM_003510.2	NP_003501.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ak	35						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2)	10						TGCCCTTGCGGAGCAGTCGGT	0.662																																							uc003njs.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(103-105)CTC>CTT		histone cluster 1, H2ak		G		1,4405		0,1,2202	39.0	41.0	41.0		105	-3.0	1.0	6		41	0,8600		0,0,4300	no	coding-synonymous	HIST1H2AK	NM_003510.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		35/131	27806013	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8330				nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	g.chr6:27806013G>A	Z83739	CCDS4632.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000184348	ENSG00000275221		"""Histones / Replication-dependent"""	4726	protein-coding gene	gene with protein product		602788	"""H2A histone family, member D"", ""histone 1, H2ak"""	H2AFD		9439656, 12408966	Standard	NM_003510		Approved	H2A/d	uc003njs.3	P0C0S8	OTTHUMG00000016382	ENST00000330180.2:c.105C>T	6.37:g.27806013G>A						HIST1H2BN_uc003njt.1_5'Flank|HIST1H2BN_uc003nju.1_5'Flank|HIST1H2BN_uc003njv.2_5'Flank	p.L35L	NM_003510	NP_003501	P0C0S8	H2A1_HUMAN			1	105	-			35					P02261|Q2M1R2|Q76PA6	Silent	SNP	ENST00000330180.2	37	c.105C>T	CCDS4632.1																																																																																				0.662	HIST1H2AK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043814.1	NM_003510		6	60	0	0	0	0.001168	0	6	60				
ZBED9	114821	broad.mit.edu	37	6	28542473	28542473	+	Missense_Mutation	SNP	T	T	G			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr6:28542473T>G	ENST00000452236.2	-	3	2626	c.2009A>C	c.(2008-2010)aAa>aCa	p.K670T	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CTTTAGCATTTTGGAAGGTTT	0.423																																							uc003nlo.2		NA																	0				ovary(1)	1						c.(2008-2010)AAA>ACA		SCAN domain containing 3							166.0	167.0	167.0					6																	28542473		2203	4300	6503	SO:0001583	missense	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28542473T>G																												ENST00000452236.2:c.2009A>C	6.37:g.28542473T>G	ENSP00000395259:p.Lys670Thr						p.K670T	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN			3	2627	-			670						Missense_Mutation	SNP	ENST00000452236.2	37	c.2009A>C	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	T	15.70	2.910879	0.52439	.	.	ENSG00000232040	ENST00000452236	T	0.01422	4.91	3.51	2.34	0.29019	.	.	.	.	.	T	0.01320	0.0043	L	0.51422	1.61	0.26072	N	0.981203	D	0.69078	0.997	P	0.57101	0.813	T	0.50550	-0.8815	9	0.87932	D	0	.	5.3601	0.16083	0.0:0.1339:0.0:0.8661	.	670	Q6R2W3	SCND3_HUMAN	T	670	ENSP00000395259:K670T	ENSP00000395259:K670T	K	-	2	0	SCAND3	28650452	0.998000	0.40836	0.994000	0.49952	0.995000	0.86356	1.271000	0.33098	0.548000	0.28955	0.460000	0.39030	AAA		0.423	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			17	121	0	0	0	0.006122	0	17	121				
ZBTB9	221504	broad.mit.edu	37	6	33424182	33424182	+	Silent	SNP	A	A	T			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr6:33424182A>T	ENST00000395064.2	+	2	1573	c.1305A>T	c.(1303-1305)ggA>ggT	p.G435G		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	435					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						CCCATGCTGGAGCCCTGCATG	0.607																																							uc003oeq.2		NA																	0					0						c.(1303-1305)GGA>GGT		zinc finger and BTB domain containing 9							78.0	75.0	76.0					6																	33424182		2203	4300	6503	SO:0001819	synonymous_variant	221504				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33424182A>T	AK122644	CCDS4780.1	6p21.31	2013-01-09			ENSG00000213588	ENSG00000213588		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	28323	protein-coding gene	gene with protein product						12477932	Standard	NM_152735		Approved	MGC23166, ZNF919	uc003oeq.3	Q96C00	OTTHUMG00000140180	ENST00000395064.2:c.1305A>T	6.37:g.33424182A>T							p.G435G	NM_152735	NP_689948	Q96C00	ZBTB9_HUMAN			2	1573	+			435					A2AB19	Silent	SNP	ENST00000395064.2	37	c.1305A>T	CCDS4780.1																																																																																				0.607	ZBTB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276533.1	NM_152735		14	100	0	0	0	0.004007	0	14	100				
VEGFA	7422	broad.mit.edu	37	6	43745332	43745332	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr6:43745332G>T	ENST00000523873.1	+	3	283	c.245G>T	c.(244-246)cGa>cTa	p.R82L	VEGFA_ENST00000417285.2_Missense_Mutation_p.R262L|VEGFA_ENST00000523950.1_Missense_Mutation_p.R82L|VEGFA_ENST00000425836.2_Missense_Mutation_p.R262L|VEGFA_ENST00000523125.1_Missense_Mutation_p.R82L|VEGFA_ENST00000457104.2_Missense_Mutation_p.R82L|VEGFA_ENST00000520948.1_Missense_Mutation_p.R82L|VEGFA_ENST00000372067.3_Missense_Mutation_p.R262L|VEGFA_ENST00000324450.6_Missense_Mutation_p.R262L|VEGFA_ENST00000413642.3_Missense_Mutation_p.R262L|VEGFA_ENST00000372064.4_Missense_Mutation_p.R262L|VEGFA_ENST00000518689.1_Missense_Mutation_p.R82L|VEGFA_ENST00000372077.4_Missense_Mutation_p.R82L|VEGFA_ENST00000482630.2_Missense_Mutation_p.R262L|VEGFA_ENST00000518824.1_Missense_Mutation_p.R82L|VEGFA_ENST00000230480.6_Missense_Mutation_p.R54L|VEGFA_ENST00000372055.4_Missense_Mutation_p.R262L			P15692	VEGFA_HUMAN	vascular endothelial growth factor A	82					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|basophil chemotaxis (GO:0002575)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|camera-type eye morphogenesis (GO:0048593)|cardiac muscle fiber development (GO:0048739)|cardiac vascular smooth muscle cell development (GO:0060948)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to hypoxia (GO:0071456)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|dopaminergic neuron differentiation (GO:0071542)|endothelial cell chemotaxis (GO:0035767)|epithelial cell differentiation (GO:0030855)|eye photoreceptor cell development (GO:0042462)|growth (GO:0040007)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|induction of positive chemotaxis (GO:0050930)|kidney development (GO:0001822)|lactation (GO:0007595)|lung development (GO:0030324)|lymph vessel morphogenesis (GO:0036303)|macrophage differentiation (GO:0030225)|mammary gland alveolus development (GO:0060749)|mesoderm development (GO:0007498)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|outflow tract morphogenesis (GO:0003151)|ovarian follicle development (GO:0001541)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cellular component movement (GO:0051272)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine autophosphorylation (GO:1900086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein localization to early endosome (GO:1902966)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor internalization (GO:0002092)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of vascular permeability (GO:0043117)|post-embryonic camera-type eye development (GO:0031077)|primitive erythrocyte differentiation (GO:0060319)|regulation of cell shape (GO:0008360)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)|surfactant homeostasis (GO:0043129)|tube formation (GO:0035148)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|VEGF-activated neuropilin signaling pathway (GO:0038190)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|neuropilin binding (GO:0038191)|platelet-derived growth factor receptor binding (GO:0005161)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor agonist activity (GO:0048018)|vascular endothelial growth factor receptor 1 binding (GO:0043183)|vascular endothelial growth factor receptor 2 binding (GO:0043184)|vascular endothelial growth factor receptor binding (GO:0005172)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Aflibercept(DB08885)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Dalteparin(DB06779)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Vandetanib(DB05294)	CCCCTGATGCGATGCGGGGGC	0.587																																							uc003owc.2		NA																	0				ovary(1)|breast(1)	2						c.(244-246)CGA>CTA		vascular endothelial growth factor A isoform f	Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)						113.0	87.0	96.0					6																	43745332		2203	4300	6503	SO:0001583	missense	7422				basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding	g.chr6:43745332G>T	AB021221	CCDS34457.1, CCDS4907.2, CCDS34458.1, CCDS47432.1, CCDS47433.1, CCDS47434.1, CCDS47435.1, CCDS55007.1, CCDS55008.1, CCDS55009.1, CCDS55010.1, CCDS55011.1, CCDS55012.1, CCDS55013.1, CCDS55014.1, CCDS55015.1, CCDS69125.1	6p12	2008-02-05	2006-10-31	2006-10-31	ENSG00000112715	ENSG00000112715			12680	protein-coding gene	gene with protein product		192240	"""vascular endothelial growth factor"""	VEGF		8786112	Standard	NM_001025366		Approved	VEGF-A, VPF	uc003owh.3	P15692	OTTHUMG00000014745	ENST00000523873.1:c.245G>T	6.37:g.43745332G>T	ENSP00000430479:p.Arg82Leu					VEGFA_uc003owb.2_Missense_Mutation_p.R82L|VEGFA_uc003owd.2_Missense_Mutation_p.R262L|VEGFA_uc003owf.2_Missense_Mutation_p.R262L|VEGFA_uc003owe.2_Missense_Mutation_p.R262L|VEGFA_uc003owg.2_Missense_Mutation_p.R262L|VEGFA_uc003owh.2_Missense_Mutation_p.R262L|VEGFA_uc003owi.2_Missense_Mutation_p.R262L|VEGFA_uc003owj.2_Missense_Mutation_p.R262L|VEGFA_uc010jyx.2_Missense_Mutation_p.R82L|VEGFA_uc003owk.2_5'Flank	p.R82L	NM_001025370	NP_001020541	P15692	VEGFA_HUMAN	all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		3	1276	+	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		82					B5BU86|H0Y2S8|H0Y407|H0Y414|H0Y462|H0Y8N2|H3BLW7|O60720|O75875|Q074Z4|Q16889|Q5UB46|Q6P0P5|Q96KJ0|Q96L82|Q96NW5|Q9H1W8|Q9H1W9|Q9UH58|Q9UL23	Missense_Mutation	SNP	ENST00000523873.1	37	c.245G>T	CCDS55010.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.671933	0.88348	.	.	ENSG00000112715	ENST00000372067;ENST00000324450;ENST00000417285;ENST00000413642;ENST00000372055;ENST00000482630;ENST00000425836;ENST00000372064;ENST00000372077;ENST00000520948;ENST00000523873;ENST00000523950;ENST00000457104;ENST00000518689;ENST00000523125;ENST00000518824;ENST00000230480;ENST00000520265	.	.	.	4.77	4.77	0.60923	Platelet-derived growth factor, conserved site (1);Platelet-derived growth factor (PDGF) (3);	0.113548	0.53938	D	0.000042	D	0.84556	0.5498	M	0.93939	3.475	0.80722	D	1	D;D;D;D;D;P;D;D;D	0.89917	0.999;0.997;0.969;0.963;0.985;0.771;0.997;0.969;1.0	D;D;P;P;D;P;D;P;D	0.91635	0.991;0.981;0.868;0.835;0.919;0.448;0.969;0.837;0.999	D	0.88877	0.3337	9	0.87932	D	0	0.5869	17.1358	0.86739	0.0:0.0:1.0:0.0	.	82;262;82;262;82;262;262;82;82	P15692-10;P15692-12;P15692-8;P15692-14;P15692-3;P15692-13;P15692-11;P15692;Q6WZM0	.;.;.;.;.;.;.;VEGFA_HUMAN;.	L	262;262;262;262;262;262;262;262;82;82;82;82;82;82;82;82;54;56	.	ENSP00000230480:R54L	R	+	2	0	VEGFA	43853310	1.000000	0.71417	0.965000	0.40720	0.694000	0.40290	9.813000	0.99286	2.361000	0.80049	0.585000	0.79938	CGA		0.587	VEGFA-021	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374460.1	NM_001025366		18	59	1	0	1.33834e-09	0.007413	1.71474e-09	18	59				
OPN5	221391	broad.mit.edu	37	6	47749807	47749807	+	Missense_Mutation	SNP	C	C	T	rs376934583		TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr6:47749807C>T	ENST00000371211.2	+	1	33	c.5C>T	c.(4-6)gCg>gTg	p.A2V	OPN5_ENST00000489301.2_Missense_Mutation_p.A2V|OPN5_ENST00000393699.2_Missense_Mutation_p.A2V	NM_181744.3	NP_859528.1	Q6U736	OPN5_HUMAN	opsin 5	2					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						AACAGAATGGCGTTAAATCAC	0.498																																					Melanoma(28;740 973 10870 42660 45347)	Melanoma(28;740 973 10870 42660 45347)	uc003ozc.2		NA																	0				ovary(1)	1						c.(4-6)GCG>GTG		opsin 5 isoform 1		C	VAL/ALA	0,4406		0,0,2203	129.0	113.0	118.0		5	5.3	0.9	6		118	2,8598	1.2+/-3.3	0,2,4298	no	missense	OPN5	NM_181744.3	64	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	2/355	47749807	2,13004	2203	4300	6503	SO:0001583	missense	221391				phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr6:47749807C>T	AY288419	CCDS4923.1	6p12.3	2012-08-08	2004-01-23		ENSG00000124818	ENSG00000124818		"""GPCR / Class A : Opsin receptors"""	19992	protein-coding gene	gene with protein product	"""neuropsin"""	609042	"""transmembrane protein 13"""	TMEM13		14623103, 14623098	Standard	NR_033806		Approved	neuropsin, dJ402H5.1	uc003ozc.3	Q6U736	OTTHUMG00000014803	ENST00000371211.2:c.5C>T	6.37:g.47749807C>T	ENSP00000360255:p.Ala2Val						p.A2V	NM_181744	NP_859528	Q6U736	OPN5_HUMAN			1	10	+			2			Extracellular (Potential).		A0AV33|Q5T5B9|Q5T886|Q7Z603|Q86SL5	Missense_Mutation	SNP	ENST00000371211.2	37	c.5C>T	CCDS4923.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.395243	0.42512	0.0	2.33E-4	ENSG00000124818	ENST00000489301;ENST00000371211;ENST00000393699	T;T;T	0.67345	-0.23;-0.26;-0.25	5.27	5.27	0.74061	.	0.304026	0.35349	N	0.003267	T	0.42832	0.1220	L	0.44542	1.39	0.80722	D	1	P	0.47545	0.897	B	0.24974	0.057	T	0.60429	-0.7265	10	0.87932	D	0	.	18.2256	0.89916	0.0:1.0:0.0:0.0	.	2	Q6U736	OPN5_HUMAN	V	2	ENSP00000426991:A2V;ENSP00000360255:A2V;ENSP00000377302:A2V	ENSP00000360255:A2V	A	+	2	0	OPN5	47857766	0.991000	0.36638	0.919000	0.36401	0.107000	0.19398	3.210000	0.51129	2.616000	0.88540	0.591000	0.81541	GCG		0.498	OPN5-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359451.1	NM_181744		11	71	0	0	0	0.001855	0	11	71				
EYS	346007	broad.mit.edu	37	6	66205100	66205100	+	Silent	SNP	A	A	T			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr6:66205100A>T	ENST00000370621.3	-	4	730	c.204T>A	c.(202-204)acT>acA	p.T68T	EYS_ENST00000370616.2_Silent_p.T68T|EYS_ENST00000342421.5_Silent_p.T68T|EYS_ENST00000370618.3_Silent_p.T68T|EYS_ENST00000393380.2_Silent_p.T68T|EYS_ENST00000503581.1_Silent_p.T68T			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	68					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GATTGCCTGAAGTATCTATTT	0.368																																							uc011dxu.1		NA																	0				lung(4)|ovary(1)|skin(1)	6						c.(202-204)ACT>ACA		eyes shut homolog isoform 1							95.0	95.0	95.0					6																	66205100		2203	4300	6503	SO:0001819	synonymous_variant	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66205100A>T		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.204T>A	6.37:g.66205100A>T						EYS_uc003peq.2_Silent_p.T68T|EYS_uc003per.1_Silent_p.T68T|EYS_uc010kaj.1_RNA	p.T68T	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN			4	742	-			68					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Silent	SNP	ENST00000370621.3	37	c.204T>A																																																																																					0.368	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		8	80	0	0	0	0.004482	0	8	80				
SYNE1	23345	broad.mit.edu	37	6	152623099	152623099	+	Silent	SNP	G	G	A			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr6:152623099G>A	ENST00000367255.5	-	92	18047	c.17446C>T	c.(17446-17448)Ctg>Ttg	p.L5816L	SYNE1_ENST00000341594.5_Silent_p.L5428L|SYNE1_ENST00000356820.4_Silent_p.L340L|SYNE1_ENST00000265368.4_Silent_p.L5816L|SYNE1_ENST00000448038.1_Silent_p.L5745L|SYNE1_ENST00000423061.1_Silent_p.L5745L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5816					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)		GTCACCGTCAGCAGCATGGTG	0.597										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.(17446-17448)CTG>TTG		spectrin repeat containing, nuclear envelope 1							79.0	75.0	76.0					6																	152623099		2203	4300	6503	SO:0001819	synonymous_variant	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.chr6:152623099G>A	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.17446C>T	6.37:g.152623099G>A		HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Silent_p.L340L|SYNE1_uc003qos.3_Silent_p.L340L|SYNE1_uc003qot.3_Silent_p.L5745L|SYNE1_uc003qou.3_Silent_p.L5816L|SYNE1_uc010kiy.1_Silent_p.L38L	p.L5816L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	92	18048	-		Ovarian(120;0.0955)	5816			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.17446C>T	CCDS5236.2																																																																																				0.597	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		15	28	0	0	0	0.00499	0	15	28				
GNA12	2768	broad.mit.edu	37	7	2834581	2834581	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr7:2834581C>T	ENST00000275364.3	-	2	668	c.506G>A	c.(505-507)cGg>cAg	p.R169Q	GNA12_ENST00000544127.1_Missense_Mutation_p.R93Q|GNA12_ENST00000407904.3_Missense_Mutation_p.R110Q	NM_007353.2	NP_031379.2	Q03113	GNA12_HUMAN	guanine nucleotide binding protein (G protein) alpha 12	169					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic digit morphogenesis (GO:0042733)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|platelet activation (GO:0030168)|regulation of cell shape (GO:0008360)|regulation of fibroblast migration (GO:0010762)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)|response to drug (GO:0042493)|Rho protein signal transduction (GO:0007266)	brush border membrane (GO:0031526)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		CTCGCTTCTCCGGCTGAAAGC	0.552																																							uc003smu.2		NA																	0				ovary(1)	1						c.(505-507)CGG>CAG		guanine nucleotide binding protein (G protein)							66.0	65.0	65.0					7																	2834581		2203	4300	6503	SO:0001583	missense	2768				G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity	g.chr7:2834581C>T	L01694	CCDS5335.1, CCDS64584.1, CCDS64583.1	7p22.3	2006-07-08			ENSG00000146535	ENSG00000146535			4380	protein-coding gene	gene with protein product		604394				8423800, 16247467	Standard	NM_007353		Approved	gep	uc003smu.3	Q03113	OTTHUMG00000023064	ENST00000275364.3:c.506G>A	7.37:g.2834581C>T	ENSP00000275364:p.Arg169Gln					GNA12_uc011jwb.1_Missense_Mutation_p.R169Q|GNA12_uc003smt.2_Missense_Mutation_p.R110Q	p.R169Q	NM_007353	NP_031379	Q03113	GNA12_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)	2	670	-		Ovarian(82;0.0112)	169					A4D204|B3KXS2|B7Z3F7|Q2T9L1|Q5PPR5|Q86UM8|Q8TD71|Q9UDU9	Missense_Mutation	SNP	ENST00000275364.3	37	c.506G>A	CCDS5335.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937415	0.73557	.	.	ENSG00000146535	ENST00000275364;ENST00000407904;ENST00000544127	D;D;D	0.90133	-2.62;-2.62;-2.62	5.58	3.79	0.43588	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.93926	0.8056	M	0.85630	2.765	0.80722	D	1	B;D;P	0.76494	0.448;0.999;0.528	B;P;B	0.58077	0.015;0.832;0.015	D	0.93504	0.6847	10	0.87932	D	0	.	10.6309	0.45536	0.0:0.8517:0.0:0.1483	.	169;169;110	Q5PPR5;Q03113;B3KXS2	.;GNA12_HUMAN;.	Q	169;110;93	ENSP00000275364:R169Q;ENSP00000385935:R110Q;ENSP00000437469:R93Q	ENSP00000275364:R169Q	R	-	2	0	GNA12	2801107	1.000000	0.71417	0.972000	0.41901	0.577000	0.36160	7.289000	0.78701	0.741000	0.32674	-0.251000	0.11542	CGG		0.552	GNA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241608.1	NM_007353		4	99	0	0	0	0.000602	0	4	99				
CAMK2B	816	broad.mit.edu	37	7	44268445	44268445	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr7:44268445C>G	ENST00000395749.2	-	19	1494	c.1418G>C	c.(1417-1419)gGg>gCg	p.G473A	CAMK2B_ENST00000489429.1_5'UTR|CAMK2B_ENST00000502837.2_Intron|CAMK2B_ENST00000395747.2_Intron|CAMK2B_ENST00000346990.4_Intron|CAMK2B_ENST00000350811.3_Intron|CAMK2B_ENST00000353625.4_Intron|CAMK2B_ENST00000347193.4_Intron|CAMK2B_ENST00000258682.6_Intron|CAMK2B_ENST00000440254.2_Intron|CAMK2B_ENST00000457475.1_Intron|CAMK2B_ENST00000358707.3_Intron	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	473					activation of meiosis involved in egg activation (GO:0060466)|calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibitory G-protein coupled receptor phosphorylation (GO:0002030)|interferon-gamma-mediated signaling pathway (GO:0060333)|neuromuscular process controlling balance (GO:0050885)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neuron projection development (GO:0010976)|positive regulation of synapse maturation (GO:0090129)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of calcium ion transport (GO:0051924)|regulation of dendritic spine development (GO:0060998)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of skeletal muscle adaptation (GO:0014733)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, cholinergic (GO:0032222)|response to cadmium ion (GO:0046686)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						GGGCGGGGGCCCCGCTGAGAG	0.677																																							uc003tkq.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(1417-1419)GGG>GCG		calcium/calmodulin-dependent protein kinase II							4.0	5.0	5.0					7																	44268445		1834	3778	5612	SO:0001583	missense	816				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr7:44268445C>G	U50358	CCDS5483.1, CCDS5484.1, CCDS5485.1, CCDS5486.1, CCDS5487.1, CCDS5488.1, CCDS5489.1, CCDS43573.1	7p14.3-p14.1	2008-10-30	2008-10-30		ENSG00000058404	ENSG00000058404			1461	protein-coding gene	gene with protein product	"""CaM-kinase II beta chain"", ""calcium/calmodulin-dependent protein kinase type II beta chain"", ""CaM kinase II beta subunit"", ""proline rich calmodulin-dependent protein kinase"""	607707	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II beta"""	CAMKB			Standard	NM_172079		Approved	CAM2, CAMK2	uc003tkq.2	Q13554	OTTHUMG00000023491	ENST00000395749.2:c.1418G>C	7.37:g.44268445C>G	ENSP00000379098:p.Gly473Ala					CAMK2B_uc003tkp.2_Intron|CAMK2B_uc003tkx.2_Intron|CAMK2B_uc010kyd.2_Intron|CAMK2B_uc003tkr.2_Intron|CAMK2B_uc003tks.2_Intron|CAMK2B_uc003tku.2_Intron|CAMK2B_uc003tkv.2_Intron|CAMK2B_uc003tkt.2_Intron|CAMK2B_uc003tkw.2_Intron|CAMK2B_uc010kyc.2_Intron|CAMK2B_uc003tkn.2_Missense_Mutation_p.G106A	p.G473A	NM_001220	NP_001211	Q13554	KCC2B_HUMAN			19	1628	-			473					A4D2K0|A4D2K1|A4D2K2|A4D2K3|A4D2K4|A4D2K5|A4D2K6|O95437|O95438|O95599|Q9UGH7|Q9UGH8|Q9UGH9|Q9UNX0|Q9UNX7|Q9UP00|Q9Y5N4|Q9Y6F4	Missense_Mutation	SNP	ENST00000395749.2	37	c.1418G>C	CCDS5483.1	.	.	.	.	.	.	.	.	.	.	c	9.336	1.061749	0.19987	.	.	ENSG00000058404	ENST00000395749	T	0.64618	-0.11	3.43	2.38	0.29361	Protein kinase-like domain (1);	.	.	.	.	T	0.41696	0.1170	L	0.27053	0.805	0.31519	N	0.662614	B;B	0.20887	0.0;0.049	B;B	0.22386	0.002;0.039	T	0.39643	-0.9604	9	0.02654	T	1	.	9.0979	0.36651	0.3609:0.6391:0.0:0.0	.	473;473	Q13554;A4D2J9	KCC2B_HUMAN;.	A	473	ENSP00000379098:G473A	ENSP00000379098:G473A	G	-	2	0	CAMK2B	44234970	0.002000	0.14202	0.956000	0.39512	0.986000	0.74619	-1.917000	0.01575	1.434000	0.47414	0.558000	0.71614	GGG		0.677	CAMK2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251138.2	NM_172084		5	0	0	0	0	0.000602	0	5	0				
STYXL1	51657	broad.mit.edu	37	7	75634594	75634594	+	Silent	SNP	G	G	A			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr7:75634594G>A	ENST00000248600.1	-	6	924	c.582C>T	c.(580-582)tcC>tcT	p.S194S	STYXL1_ENST00000360591.3_3'UTR|STYXL1_ENST00000359697.3_Silent_p.S194S|STYXL1_ENST00000451157.1_Silent_p.S194S|STYXL1_ENST00000340062.5_Silent_p.S98S|STYXL1_ENST00000431581.1_Silent_p.S194S	NM_016086.2	NP_057170.1	Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	194	Tyrosine-protein phosphatase.				intracellular signal transduction (GO:0035556)|protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						CTGTATCCATGGAGACATTGA	0.318																																							uc003uej.3		NA																	0					0						c.(580-582)TCC>TCT		map kinase phosphatase-like protein MK-STYX							87.0	83.0	84.0					7																	75634594		2203	4300	6503	SO:0001819	synonymous_variant	51657				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity	g.chr7:75634594G>A	AF069762	CCDS5580.1	7q11.23	2011-06-09	2005-09-22	2005-09-22	ENSG00000127952	ENSG00000127952		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	18165	protein-coding gene	gene with protein product			"""dual specificity phosphatase 24 (putative)"""	DUSP24		9757831	Standard	NM_016086		Approved	MK-STYX	uc003uel.3	Q9Y6J8	OTTHUMG00000130459	ENST00000248600.1:c.582C>T	7.37:g.75634594G>A						STYXL1_uc003uef.2_5'UTR|STYXL1_uc011kgf.1_Silent_p.S56S|STYXL1_uc011kgg.1_Silent_p.S46S|STYXL1_uc003ueh.2_Silent_p.S56S|STYXL1_uc003uek.3_Silent_p.S98S|STYXL1_uc003uel.2_Silent_p.S194S|STYXL1_uc003uem.2_Silent_p.S194S|STYXL1_uc010ldg.1_RNA|STYXL1_uc010ldh.1_Silent_p.S194S|STYXL1_uc003uen.1_Silent_p.S194S	p.S194S	NM_016086	NP_057170	Q9Y6J8	STYL1_HUMAN			6	755	-			194			Tyrosine-protein phosphatase.		Q9UBP1|Q9UK06|Q9UK07|Q9UKG2|Q9UKG3	Silent	SNP	ENST00000248600.1	37	c.582C>T	CCDS5580.1																																																																																				0.318	STYXL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344825.1	NM_016086		6	23	0	0	0	0.00308	0	6	23				
ARPC1B	10095	broad.mit.edu	37	7	98984357	98984357	+	Silent	SNP	C	C	T	rs144704984	byFrequency	TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr7:98984357C>T	ENST00000451682.1	+	5	423	c.114C>T	c.(112-114)agC>agT	p.S38S	ARPC1A_ENST00000432884.2_3'UTR|ARPC1B_ENST00000474880.1_3'UTR|ARPC1B_ENST00000252725.5_Silent_p.S38S			O15143	ARC1B_HUMAN	actin related protein 2/3 complex, subunit 1B, 41kDa	38					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			ATGAAAAGAGCGGTGCCAAAT	0.572																																							uc003upz.2		NA																	0					0						c.(112-114)AGC>AGT		actin related protein 2/3 complex subunit 1B		C		1,4405	2.1+/-5.4	0,1,2202	182.0	158.0	166.0		114	-6.5	0.0	7	dbSNP_134	166	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ARPC1B	NM_005720.3		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		38/373	98984357	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10095				cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton	g.chr7:98984357C>T	AF006084	CCDS5661.1	7q22.1	2013-03-14	2002-08-29		ENSG00000130429	ENSG00000130429		"""Actin related protein 2/3 complex subunits"", ""WD repeat domain containing"""	704	protein-coding gene	gene with protein product	"""ARP2/3 protein complex subunit p41"", ""actin related protein 2/3 complex, subunit 1A (41 kD)"""	604223	"""actin related protein 2/3 complex, subunit 1B (41 kD)"""			9230079, 9359840	Standard	NM_005720		Approved	ARC41, p40-ARC, p41-ARC	uc003upz.3	O15143	OTTHUMG00000154552	ENST00000451682.1:c.114C>T	7.37:g.98984357C>T						ARPC1A_uc011kit.1_RNA|ARPC1B_uc003uqa.2_Silent_p.S38S|ARPC1B_uc003uqb.2_Silent_p.S38S|ARPC1B_uc003uqc.2_Silent_p.S38S	p.S38S	NM_005720	NP_005711	O15143	ARC1B_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		3	203	+	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		38			WD 1.		Q9BU00	Silent	SNP	ENST00000451682.1	37	c.114C>T	CCDS5661.1																																																																																				0.572	ARPC1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335894.1	NM_005720		19	146	0	0	0	0.014323	0	19	146				
PPP1R3A	5506	broad.mit.edu	37	7	113558434	113558434	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr7:113558434C>A	ENST00000284601.3	-	1	686	c.618G>T	c.(616-618)gaG>gaT	p.E206D		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	206	CBM21. {ECO:0000255|PROSITE- ProRule:PRU00491}.				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						GTATACAAAACTCAACTTTAC	0.343																																							uc010ljy.1		NA																	0				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						c.(616-618)GAG>GAT		protein phosphatase 1, regulatory (inhibitor)							112.0	107.0	109.0					7																	113558434		2203	4299	6502	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113558434C>A	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.618G>T	7.37:g.113558434C>A	ENSP00000284601:p.Glu206Asp						p.E206D	NM_002711	NP_002702	Q16821	PPR3A_HUMAN			1	649	-			206			CBM21.		A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.618G>T	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971481	0.53614	.	.	ENSG00000154415	ENST00000284601	T	0.65916	-0.18	6.08	-0.474	0.12108	Putative phosphatase regulatory subunit (2);	0.054247	0.64402	D	0.000001	T	0.69833	0.3155	M	0.62154	1.92	0.48395	D	0.999649	D	0.53462	0.96	P	0.61722	0.893	T	0.70033	-0.4983	10	0.62326	D	0.03	-0.1246	11.3662	0.49673	0.0:0.4783:0.0:0.5217	.	206	Q16821	PPR3A_HUMAN	D	206	ENSP00000284601:E206D	ENSP00000284601:E206D	E	-	3	2	PPP1R3A	113345670	0.539000	0.26402	0.997000	0.53966	0.994000	0.84299	-0.276000	0.08514	-0.025000	0.13918	-0.218000	0.12543	GAG		0.343	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		4	19	1	0	0.00024832	0.009096	0.000277667	4	19				
FAM49B	51571	broad.mit.edu	37	8	130883703	130883703	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr8:130883703T>C	ENST00000519824.2	-	4	386	c.113A>G	c.(112-114)cAg>cGg	p.Q38R	FAM49B_ENST00000522250.1_5'UTR|FAM49B_ENST00000522746.1_Missense_Mutation_p.Q38R|FAM49B_ENST00000401979.2_Missense_Mutation_p.Q38R|FAM49B_ENST00000519540.1_Missense_Mutation_p.Q38R|FAM49B_ENST00000517654.1_Missense_Mutation_p.Q38R|FAM49B_ENST00000518879.1_Intron|FAM49B_ENST00000522941.1_5'UTR|FAM49B_ENST00000519110.1_Missense_Mutation_p.Q38R|SNORA25_ENST00000363205.1_RNA|FAM49B_ENST00000523509.1_Missense_Mutation_p.Q38R	NM_016623.4	NP_057707.3	Q9NUQ9	FA49B_HUMAN	family with sequence similarity 49, member B	38						cilium (GO:0005929)|extracellular vesicular exosome (GO:0070062)				kidney(1)|large_intestine(6)|lung(4)|prostate(1)	12	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		LUAD - Lung adenocarcinoma(14;0.0989)			TACATTCACCTGATTATAAAT	0.388																																							uc003yss.2		NA																	0					0						c.(112-114)CAG>CGG		hypothetical protein LOC51571							87.0	85.0	85.0					8																	130883703		2203	4300	6503	SO:0001583	missense	51571							g.chr8:130883703T>C	AF208851	CCDS6361.1	8q24	2004-08-20				ENSG00000153310			25216	protein-coding gene	gene with protein product							Standard	NM_001256763		Approved	BM-009	uc003ysu.4	Q9NUQ9		ENST00000519824.2:c.113A>G	8.37:g.130883703T>C	ENSP00000429150:p.Gln38Arg					FAM49B_uc003yst.2_Missense_Mutation_p.Q38R|FAM49B_uc003ysu.2_Missense_Mutation_p.Q38R|FAM49B_uc003ysv.2_5'UTR|FAM49B_uc003ysw.2_Missense_Mutation_p.Q38R|FAM49B_uc003ysx.2_Missense_Mutation_p.Q38R|FAM49B_uc003ysy.1_Missense_Mutation_p.Q38R	p.Q38R	NM_016623	NP_057707	Q9NUQ9	FA49B_HUMAN	LUAD - Lung adenocarcinoma(14;0.0989)		7	662	-	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		38					Q96AZ5|Q9NW21|Q9NZE7	Missense_Mutation	SNP	ENST00000519824.2	37	c.113A>G	CCDS6361.1	.	.	.	.	.	.	.	.	.	.	T	17.58	3.424303	0.62733	.	.	ENSG00000153310	ENST00000522746;ENST00000523509;ENST00000401979;ENST00000519110;ENST00000519824;ENST00000517654;ENST00000519540;ENST00000519142;ENST00000520204;ENST00000518283;ENST00000523993;ENST00000520254;ENST00000519020;ENST00000518167;ENST00000517672;ENST00000519070;ENST00000522361	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91	5.83	5.83	0.93111	.	0.057063	0.64402	D	0.000001	T	0.41834	0.1176	M	0.63428	1.95	0.80722	D	1	B	0.09022	0.002	B	0.15870	0.014	T	0.26538	-1.0100	10	0.20046	T	0.44	-3.4164	15.3853	0.74695	0.0:0.0:0.0:1.0	.	38	Q9NUQ9	FA49B_HUMAN	R	38	ENSP00000428117:Q38R;ENSP00000429802:Q38R;ENSP00000384880:Q38R;ENSP00000429078:Q38R;ENSP00000429150:Q38R;ENSP00000430674:Q38R;ENSP00000429499:Q38R;ENSP00000430806:Q38R;ENSP00000429051:Q38R;ENSP00000430694:Q38R;ENSP00000429074:Q38R;ENSP00000430127:Q38R;ENSP00000429659:Q38R;ENSP00000427994:Q38R;ENSP00000430434:Q38R;ENSP00000429860:Q38R;ENSP00000430412:Q38R	ENSP00000384880:Q38R	Q	-	2	0	FAM49B	130952885	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.698000	0.84413	2.219000	0.72066	0.533000	0.62120	CAG		0.388	FAM49B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380390.2	NM_016623		4	45	0	0	0	0.000602	0	4	45				
FREM1	158326	broad.mit.edu	37	9	14848737	14848737	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr9:14848737C>A	ENST00000380880.3	-	7	1970	c.1187G>T	c.(1186-1188)aGg>aTg	p.R396M	FREM1_ENST00000422223.2_Missense_Mutation_p.R396M|RNU6-1260P_ENST00000362944.1_RNA|FREM1_ENST00000380881.4_Missense_Mutation_p.R397M			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	396					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGGTGCACTCCTTTCAAAGAA	0.438																																							uc003zlm.2		NA																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(1186-1188)AGG>ATG		FRAS1 related extracellular matrix 1 precursor							122.0	111.0	114.0					9																	14848737		1926	4139	6065	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14848737C>A	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.1187G>T	9.37:g.14848737C>A	ENSP00000370262:p.Arg396Met					FREM1_uc010mic.2_RNA	p.R396M	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	7	1777	-			396			CSPG 2.		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.1187G>T	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.097105	0.56075	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.10860	2.83;2.83;2.83	5.7	-5.39	0.02664	.	0.340396	0.37761	N	0.001944	T	0.13756	0.0333	L	0.60455	1.87	0.22366	N	0.999166	P	0.44478	0.836	P	0.45913	0.497	T	0.04565	-1.0942	10	0.44086	T	0.13	-2.1424	16.4345	0.83871	0.0:0.3512:0.0:0.6488	.	396	Q5H8C1	FREM1_HUMAN	M	397;396;396	ENSP00000370263:R397M;ENSP00000412940:R396M;ENSP00000370262:R396M	ENSP00000370257:R399M	R	-	2	0	FREM1	14838737	0.039000	0.19947	0.000000	0.03702	0.925000	0.55904	-0.168000	0.09925	-1.027000	0.03325	-0.136000	0.14681	AGG		0.438	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		6	29	1	0	8.12818e-05	0.001984	9.34361e-05	6	29				
TLE4	7091	broad.mit.edu	37	9	82323092	82323092	+	Silent	SNP	G	G	T			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr9:82323092G>T	ENST00000376552.2	+	12	2014	c.996G>T	c.(994-996)gcG>gcT	p.A332A	TLE4_ENST00000376544.3_Silent_p.A263A|TLE4_ENST00000376520.4_Silent_p.A364A|TLE4_ENST00000265284.6_Silent_p.A307A|TLE4_ENST00000376537.4_Silent_p.A364A|TLE4_ENST00000376534.4_5'UTR	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	332					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GAACTGATGCGCCCACCCCAG	0.438																																							uc004ald.2		NA																	0				lung(2)|ovary(1)|breast(1)|skin(1)	5						c.(1069-1071)GCG>GCT		transducin-like enhancer protein 4							86.0	80.0	82.0					9																	82323092		1865	4096	5961	SO:0001819	synonymous_variant	7091							g.chr9:82323092G>T	M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.996G>T	9.37:g.82323092G>T						TLE4_uc004alc.2_Silent_p.A332A|TLE4_uc010mpr.2_Silent_p.A211A|TLE4_uc004ale.2_5'UTR|TLE4_uc011lsq.1_Silent_p.A300A|TLE4_uc010mps.2_Silent_p.A256A|TLE4_uc004alf.2_Silent_p.A271A	p.A357A	NM_007005	NP_008936	O60756	BCE1_HUMAN			13	1920	+			Error:Variant_position_missing_in_O60756_after_alignment					F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Silent	SNP	ENST00000376552.2	37	c.1071G>T	CCDS43837.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.32|10.32	1.316913|1.316913	0.23908|0.23908	.|.	.|.	ENSG00000106829|ENSG00000106829	ENST00000496114|ENST00000417836	T|.	0.32515|.	1.45|.	6.04|6.04	-12.1|-12.1	0.00011|0.00011	.|.	0.171901|.	0.53938|.	D|.	0.000055|.	T|T	0.31482|0.31482	0.0798|0.0798	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.40813|0.40813	-0.9543|-0.9543	7|4	0.32370|.	T|.	0.25|.	-14.8947|-14.8947	2.372|2.372	0.04333|0.04333	0.2015:0.1309:0.3584:0.3092|0.2015:0.1309:0.3584:0.3092	.|.	.|.	.|.	.|.	S|L	123|97	ENSP00000417102:A123S|.	ENSP00000417102:A123S|.	A|R	+|+	1|2	0|0	TLE4|TLE4	81512912|81512912	0.006000|0.006000	0.16342|0.16342	0.501000|0.501000	0.27601|0.27601	0.977000|0.977000	0.68977|0.68977	-1.057000|-1.057000	0.03486|0.03486	-1.990000|-1.990000	0.00978|0.00978	-0.471000|-0.471000	0.05019|0.05019	GCC|CGC		0.438	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237		12	75	1	0	5.50884e-06	0.013537	6.57851e-06	12	75				
PBX3	5090	broad.mit.edu	37	9	128724493	128724493	+	Splice_Site	SNP	G	G	A			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr9:128724493G>A	ENST00000373489.5	+	7	1138	c.1122G>A	c.(1120-1122)caG>caA	p.Q374Q	PBX3_ENST00000538998.1_Intron|PBX3_ENST00000373483.2_Splice_Site_p.Q193Q|PBX3_ENST00000373487.4_Splice_Site_p.Q395Q|PBX3_ENST00000342287.5_Intron|PBX3_ENST00000447726.2_Splice_Site_p.Q299Q	NM_006195.5	NP_006186.1	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	374					adult locomotory behavior (GO:0008344)|anterior compartment pattern formation (GO:0007387)|dorsal spinal cord development (GO:0021516)|neuron development (GO:0048666)|posterior compartment specification (GO:0007388)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						TGCAATCACAGGTAGGAGAAA	0.507																																							uc004bqb.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(1120-1122)CAG>CAA		pre-B-cell leukemia homeobox 3 isoform 1							50.0	49.0	50.0					9																	128724493		2203	4300	6503	SO:0001630	splice_region_variant	5090				anterior compartment pattern formation|posterior compartment specification		sequence-specific DNA binding transcription factor activity	g.chr9:128724493G>A		CCDS6865.1, CCDS48021.1	9q33.3	2011-06-20	2007-01-30		ENSG00000167081	ENSG00000167081		"""Homeoboxes / TALE class"""	8634	protein-coding gene	gene with protein product		176312	"""pre-B-cell leukemia transcription factor 3"""			1682799	Standard	NM_006195		Approved		uc004bqb.3	P40426	OTTHUMG00000020684	ENST00000373489.5:c.1122+1G>A	9.37:g.128724493G>A						PBX3_uc004bqc.2_Silent_p.Q193Q|PBX3_uc004bqd.2_Intron|PBX3_uc011lzw.1_Silent_p.Q299Q|PBX3_uc011lzx.1_Intron|PBX3_uc004bqe.2_Silent_p.Q282Q	p.Q374Q	NM_006195	NP_006186	P40426	PBX3_HUMAN			7	1238	+			374					E9PB27|Q5JSA0|Q5JSA1|Q5VXL3|Q96PF9|Q96PG0	Silent	SNP	ENST00000373489.5	37	c.1122G>A	CCDS6865.1																																																																																				0.507	PBX3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417765.1		Silent	4	22	0	0	0	0.009096	0	4	22				
TUBBP5	643224	broad.mit.edu	37	9	141071110	141071110	+	RNA	SNP	A	A	G			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr9:141071110A>G	ENST00000503395.1	+	0	1735									tubulin, beta pseudogene 5									p.P243P(7)									TGCGCTTCCCAGGCCAGCTGA	0.597																																							uc004com.2		NA																	7	Substitution - coding silent(7)		kidney(3)|prostate(2)|endometrium(2)		0						c.(511-513)CCA>CCG		RecName: Full=Putative tubulin beta-4q chain;																																						643224							g.chr9:141071110A>G	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141071110A>G						TUBBP5_uc010ncq.2_3'UTR	p.P171P							4	774	+									Silent	SNP	ENST00000503395.1	37	c.513A>G																																																																																					0.597	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156		4	52	0	0	0	0.000602	0	4	52				
MSL3	10943	broad.mit.edu	37	X	11793130	11793130	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chrX:11793130C>T	ENST00000312196.4	+	13	1603	c.1498C>T	c.(1498-1500)Cca>Tca	p.P500S	MSL3_ENST00000380693.3_Missense_Mutation_p.P334S|MSL3_ENST00000361672.2_Missense_Mutation_p.P351S|MSL3_ENST00000398527.2_Missense_Mutation_p.P488S	NM_078629.3	NP_523353.2	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	500	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|multicellular organismal development (GO:0007275)|transcription from RNA polymerase II promoter (GO:0006366)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						TGACTTCTTCCCAGAGTCGGC	0.423																																							uc004cuw.2		NA																	0				ovary(1)	1						c.(1498-1500)CCA>TCA		male-specific lethal 3-like 1 isoform a							63.0	63.0	63.0					X																	11793130		2203	4300	6503	SO:0001583	missense	10943				histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity	g.chrX:11793130C>T	AF117065	CCDS14147.1, CCDS14148.1, CCDS14149.1, CCDS55369.1, CCDS65213.1	Xp22.3	2008-10-29	2008-10-29	2008-10-29	ENSG00000005302	ENSG00000005302			7370	protein-coding gene	gene with protein product		300609	"""male-specific lethal-3 (Drosophila)-like 1"", ""male-specific lethal 3-like 1 (Drosophila)"""	MSL3L1		10395802, 10908644	Standard	NM_078628		Approved		uc004cuw.3	Q8N5Y2	OTTHUMG00000021132	ENST00000312196.4:c.1498C>T	X.37:g.11793130C>T	ENSP00000312244:p.Pro500Ser					MSL3_uc004cux.2_Missense_Mutation_p.P441S|MSL3_uc011mig.1_Missense_Mutation_p.P351S|MSL3_uc011mih.1_Missense_Mutation_p.P488S|MSL3_uc004cuy.2_Missense_Mutation_p.P334S	p.P500S	NM_078629	NP_523353	Q8N5Y2	MS3L1_HUMAN			13	1603	+			500					A6NCU2|A6NHW8|A8K165|B4DUV8|B7Z227|Q9UG70|Q9Y5Z8	Missense_Mutation	SNP	ENST00000312196.4	37	c.1498C>T	CCDS14147.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.236298	0.39498	.	.	ENSG00000005302	ENST00000312196;ENST00000361672;ENST00000398527;ENST00000380693	T;T;T;T	0.09255	3.0;3.0;3.0;3.0	4.97	4.97	0.65823	.	0.069658	0.56097	D	0.000021	T	0.19005	0.0456	L	0.28608	0.87	0.58432	D	0.999994	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.998;0.999	T	0.01767	-1.1278	10	0.02654	T	1	.	17.7149	0.88333	0.0:1.0:0.0:0.0	.	488;351;441;500	B4DUV8;B7Z227;Q8N5Y2-2;Q8N5Y2	.;.;.;MS3L1_HUMAN	S	500;351;488;334	ENSP00000312244:P500S;ENSP00000354562:P351S;ENSP00000381538:P488S;ENSP00000370069:P334S	ENSP00000312244:P500S	P	+	1	0	MSL3	11703051	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.891000	0.69782	2.201000	0.70794	0.600000	0.82982	CCA		0.423	MSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055757.1	NM_006800		3	38	0	0	0	0.009096	0	3	38				
USP9X	8239	broad.mit.edu	37	X	41077680	41077680	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chrX:41077680G>T	ENST00000324545.8	+	37	6898	c.6265G>T	c.(6265-6267)Gct>Tct	p.A2089S	USP9X_ENST00000378308.2_Missense_Mutation_p.A2089S	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2089					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TTTTTGGTTTGCTCATAACGT	0.373																																					Ovarian(172;1807 2695 35459 49286)	Ovarian(172;1807 2695 35459 49286)	uc004dfb.2		NA																	0				lung(3)|breast(2)|ovary(1)	6						c.(6265-6267)GCT>TCT		ubiquitin specific protease 9, X-linked isoform							198.0	179.0	186.0					X																	41077680		2203	4300	6503	SO:0001583	missense	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41077680G>T	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.6265G>T	X.37:g.41077680G>T	ENSP00000316357:p.Ala2089Ser					USP9X_uc004dfc.2_Missense_Mutation_p.A2089S	p.A2089S	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN			37	6898	+			2089					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.6265G>T	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.413618	0.83449	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.03441	3.94;3.93	5.8	5.8	0.92144	.	0.046714	0.85682	N	0.000000	T	0.09024	0.0223	M	0.68952	2.095	0.80722	D	1	P;B	0.40534	0.72;0.397	B;B	0.43194	0.411;0.23	T	0.31752	-0.9932	10	0.22109	T	0.4	.	19.0277	0.92939	0.0:0.0:1.0:0.0	.	2089;2089	Q93008-1;Q93008	.;USP9X_HUMAN	S	2089	ENSP00000367558:A2089S;ENSP00000316357:A2089S	ENSP00000316357:A2089S	A	+	1	0	USP9X	40962624	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.442000	0.82660	0.513000	0.50165	GCT		0.373	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		11	32	1	0	6.42651e-13	0.010729	8.32064e-13	11	32				
SPRY3	10251	broad.mit.edu	37	X	155003947	155003947	+	Silent	SNP	G	G	C			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chrX:155003947G>C	ENST00000302805.2	+	2	845	c.414G>C	c.(412-414)ggG>ggC	p.G138G		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	138					multicellular organismal development (GO:0007275)|regulation of signal transduction (GO:0009966)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.G138G(1)				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)					AATCTGCAGGGCACCCTAGTG	0.607																																							uc004fnq.1		NA																	1	Substitution - coding silent(1)		haematopoietic_and_lymphoid_tissue(1)		0						c.(412-414)GGG>GGC		sprouty homolog 3							99.0	104.0	103.0					X																	155003947		2203	4296	6499	SO:0001819	synonymous_variant	10251				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane		g.chrX:155003947G>C	AF041038	CCDS14769.4	Xq28 and Yq12	2008-02-05	2001-11-28		ENSG00000168939	ENSG00000168939		"""Pseudoautosomal regions / PAR2"""	11271	protein-coding gene	gene with protein product	"""antagonist of FGF signaling"""	300531	"""sprouty (Drosophila) homolog 2"""			9458049	Standard	NM_005840		Approved	HSPRY3	uc004fnq.1	O43610	OTTHUMG00000022675	ENST00000302805.2:c.414G>C	X.37:g.155003947G>C						SPRY3_uc010nvl.1_Intron	p.G138G	NM_005840	NP_005831	O43610	SPY3_HUMAN			2	868	+	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)		138					A8K0H8	Silent	SNP	ENST00000302805.2	37	c.414G>C	CCDS14769.4																																																																																				0.607	SPRY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058823.2	NM_005840		17	67	0	0	0	0.004007	0	17	67				
ODF2L	57489	broad.mit.edu	37	1	86841994	86841995	+	Frame_Shift_Ins	INS	-	-	T	rs36121011		TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr1:86841994_86841995insT	ENST00000359242.3	-	8	1012_1013	c.731_732insA	c.(730-732)aagfs	p.K244fs	ODF2L_ENST00000317336.7_Frame_Shift_Ins_p.K244fs|ODF2L_ENST00000294678.2_Frame_Shift_Ins_p.K244fs|ODF2L_ENST00000524695.1_5'Flank|ODF2L_ENST00000370566.3_Frame_Shift_Ins_p.K244fs|ODF2L_ENST00000370567.1_Frame_Shift_Ins_p.K244fs|ODF2L_ENST00000394731.1_Frame_Shift_Ins_p.K113fs	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	244						centrosome (GO:0005813)				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		CTTTAGATGCCTTTTTTAAAGC	0.347																																							uc001dll.1		NA																	0				ovary(1)	1						c.(730-732)AAGfs		outer dense fiber of sperm tails 2-like isoform																																				SO:0001589	frameshift_variant	57489					centrosome		g.chr1:86841994_86841995insT		CCDS30763.1, CCDS41354.1, CCDS30763.2, CCDS41354.2, CCDS53339.1	1p22.3	2008-02-05			ENSG00000122417	ENSG00000122417			29225	protein-coding gene	gene with protein product						10574462	Standard	NM_020729		Approved	KIAA1229	uc001dll.2	Q9ULJ1	OTTHUMG00000010080	ENST00000359242.3:c.732dupA	1.37:g.86842000_86842000dupT	ENSP00000359600:p.Lys244fs					ODF2L_uc001dlm.1_Frame_Shift_Ins_p.K244fs|ODF2L_uc001dln.2_Frame_Shift_Ins_p.K244fs|ODF2L_uc001dlo.2_Frame_Shift_Ins_p.K113fs|ODF2L_uc001dlp.2_Frame_Shift_Ins_p.K244fs|ODF2L_uc010osg.1_Frame_Shift_Ins_p.K244fs|ODF2L_uc001dlq.1_Frame_Shift_Ins_p.K74fs|ODF2L_uc009wcr.1_Frame_Shift_Ins_p.K113fs	p.K244fs	NM_020729	NP_065780	Q9ULJ1	ODF2L_HUMAN		all cancers(265;0.0313)|Epithelial(280;0.0611)	8	1071_1072	-			244					A8MU56|B4E037|Q05C40|Q5BJG5|Q5TBX3|Q5TBX4|Q86X31	Frame_Shift_Ins	INS	ENST00000359242.3	37	c.731_732insA	CCDS41354.2																																																																																				0.347	ODF2L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027873.2			2	4	NA	NA	NA	NA	NA	2	4	---	---	---	---
RBMXL1	494115	broad.mit.edu	37	1	89448604	89448605	+	Frame_Shift_Ins	INS	-	-	GG	rs372937970	byFrequency	TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr1:89448604_89448605insGG	ENST00000321792.5	-	2	1332_1333	c.905_906insCC	c.(904-906)ccafs	p.P302fs	RBMXL1_ENST00000399794.2_Frame_Shift_Ins_p.P302fs|RBMXL1_ENST00000413769.1_5'Flank|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000446900.2_Intron	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	302	Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										CACCATAAGATGGCGGGGGCCC	0.475																																							uc009wcx.2		NA																	0					0						c.(904-906)CCAfs		RNA binding motif protein, X-linked-like 1																																				SO:0001589	frameshift_variant	494115						nucleotide binding|RNA binding	g.chr1:89448604_89448605insGG	BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"""RNA binding motif (RRM) containing"""	25073	protein-coding gene	gene with protein product	"""kynurenine aminotransferase III"""					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.904_905dupCC	1.37:g.89448605_89448606dupGG	ENSP00000318415:p.Pro302fs					CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc001dms.2_Frame_Shift_Ins_p.P302fs	p.P302fs	NM_001162536	NP_001156008	Q96E39	RBMXL_HUMAN			3	1621_1622	-			302			Ser-rich.			Frame_Shift_Ins	INS	ENST00000321792.5	37	c.905_906insCC	CCDS716.1																																																																																				0.475	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3	NM_019610		7	160	NA	NA	NA	NA	NA	7	160	---	---	---	---
GPR180	160897	broad.mit.edu	37	13	95254184	95254184	+	Start_Codon_Del	DEL	G	G	-			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr13:95254184delG	ENST00000376958.4	+	0	28					NM_180989.5	NP_851320.1	Q86V85	GP180_HUMAN	G protein-coupled receptor 180						G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	10	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					AGACGGGCATGGGGGGGCTGC	0.771																																							uc001vly.2		NA																	0				breast(1)	1						c.(1-3)ATGfs		G protein-coupled receptor 180 precursor				10,10,2944		2,0,6,2,6,1466	3.0	4.0	4.0			5.8	1.0	13		4	5,21,6264		0,0,5,9,3,3128	no	codingComplex	GPR180	NM_180989.5		2,0,11,11,9,4594	A1A1,A1A2,A1R,A2A2,A2R,RR		0.4134,0.6748,0.4971			95254184	15,31,9208	1640	3432	5072	SO:0001582	initiator_codon_variant	160897					integral to membrane		g.chr13:95254184delG	AF339823	CCDS9472.1	13q32.1	2006-04-05			ENSG00000152749	ENSG00000152749			28899	protein-coding gene	gene with protein product	"""intimal thickness related receptor"""	607787				12538434	Standard	NM_180989		Approved	ITR	uc001vly.3	Q86V85	OTTHUMG00000017207		13.37:g.95254184delG						GPR180_uc001vlz.2_Translation_Start_Site|GPR180_uc010afi.2_Translation_Start_Site	p.M1fs	NM_180989	NP_851320	Q86V85	GP180_HUMAN			1	81	+	all_neural(89;0.0684)|Medulloblastoma(90;0.163)		1					A8K1D5	Frame_Shift_Del	DEL	ENST00000376958.4	37	c.3delG	CCDS9472.1																																																																																				0.771	GPR180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045465.3	NM_180989		3	3	NA	NA	NA	NA	NA	3	3	---	---	---	---
MGA	23269	broad.mit.edu	37	15	42003214	42003220	+	Frame_Shift_Del	DEL	CATTTTA	CATTTTA	-			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	CATTTTA	CATTTTA	-	-	CATTTTA	CATTTTA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr15:42003214_42003220delCATTTTA	ENST00000570161.1	+	7	2751_2757	c.2751_2757delCATTTTA	c.(2749-2757)tccattttafs	p.SIL917fs	MGA_ENST00000545763.1_Frame_Shift_Del_p.SIL917fs|MGA_ENST00000389936.4_Frame_Shift_Del_p.SIL917fs|MGA_ENST00000566586.1_Frame_Shift_Del_p.SIL917fs|MGA_ENST00000219905.7_Frame_Shift_Del_p.SIL917fs			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTTATAAATCCATTTTACCATACCCTG	0.396																																							uc001zog.1		NA																	0				ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12						c.(2749-2757)TCCATTTTAfs		MAX-interacting protein isoform 2																																				SO:0001589	frameshift_variant	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42003214_42003220delCATTTTA	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.2751_2757delCATTTTA	15.37:g.42003214_42003220delCATTTTA	ENSP00000457035:p.Ser917fs					MGA_uc010ucy.1_Frame_Shift_Del_p.S917fs|MGA_uc010ucz.1_Frame_Shift_Del_p.S917fs	p.S917fs	NM_001080541	NP_001074010	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	8	2842_2848	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	917_919					Q0VAX6|Q75ME7|Q86UM5	Frame_Shift_Del	DEL	ENST00000570161.1	37	c.2751_2757delCATTTTA	CCDS55959.1																																																																																				0.396	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		9	91	NA	NA	NA	NA	NA	9	91	---	---	---	---
STK11	6794	broad.mit.edu	37	19	1207090	1207091	+	Frame_Shift_Ins	INS	-	-	A			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr19:1207090_1207091insA	ENST00000326873.7	+	1	1351_1352	c.178_179insA	c.(178-180)tacfs	p.Y60fs	STK11_ENST00000585748.1_Intron	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	60	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|Sufficient for interaction with SIRT1.				activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.?(3)|p.G56fs*4(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAAGGCTCTTACGGCAAGGTG	0.629		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																													uc002lrl.1		14	yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	D|Mis|N|F|S	serine/threonine kinase 11 gene (LKB1)			"""E, M, O"""		jejunal harmartoma|ovarian|testicular|pancreatic	NSCLC|pancreatic		24	Whole gene deletion(20)|Deletion - Frameshift(2)|Unknown(2)	p.0?(19)|p.?(3)|p.Y60fs*1(3)|p.Y60*(2)|p.G56fs*4(1)|p.G52_P179del(1)	cervix(15)|lung(4)|skin(1)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)	lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1)	266	GRCh37	CI055775	STK11	I		c.(178-180)TACfs		serine/threonine protein kinase 11																																				SO:0001589	frameshift_variant	6794	Peutz-Jeghers_syndrome	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:1207090_1207091insA	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"""polarization-related protein LKB1"""	602216	"""serine/threonine kinase 11 (Peutz-Jeghers syndrome)"""			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.179dupA	19.37:g.1207091_1207091dupA	ENSP00000324856:p.Tyr60fs	TSP Lung(3;<1E-08)					p.Y60fs	NM_000455	NP_000446	Q15831	STK11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)	1	1293_1294	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)	60			ATP (By similarity).|Protein kinase.		B2RBX7|E7EW76	Frame_Shift_Ins	INS	ENST00000326873.7	37	c.178_179insA	CCDS45896.1																																																																																				0.629	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449839.3	NM_000455		12	34	NA	NA	NA	NA	NA	12	34	---	---	---	---
MARK4	57787	broad.mit.edu	37	19	45797646	45797647	+	Frame_Shift_Ins	INS	-	-	A			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr19:45797646_45797647insA	ENST00000262891.4	+	14	1865_1866	c.1534_1535insA	c.(1534-1536)tacfs	p.Y512fs	MARK4_ENST00000300843.4_Frame_Shift_Ins_p.Y512fs	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	512					microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CAGAAACACCTACGTTTGCACA	0.599																																							uc002pbb.1		NA																	0				central_nervous_system(2)|large_intestine(1)	3						c.(1534-1536)TACfs		RecName: Full=MAP/microtubule affinity-regulating kinase 4;          EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1;																																				SO:0001589	frameshift_variant	57787				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding	g.chr19:45797646_45797647insA	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"""MAP/microtubule affinity-regulating kinase like 1"""	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.1535dupA	19.37:g.45797647_45797647dupA	ENSP00000262891:p.Tyr512fs					MARK4_uc002pba.1_Frame_Shift_Ins_p.Y512fs	p.Y512fs			Q96L34	MARK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	14	1539_1540	+		all_neural(266;0.224)|Ovarian(192;0.231)	512					Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Frame_Shift_Ins	INS	ENST00000262891.4	37	c.1534_1535insA	CCDS56097.1																																																																																				0.599	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	NM_031417		12	79	NA	NA	NA	NA	NA	12	79	---	---	---	---
CCDC13	152206	broad.mit.edu	37	3	42774410	42774410	+	Frame_Shift_Del	DEL	A	A	-			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr3:42774410delA	ENST00000310232.6	-	12	1647	c.1564delT	c.(1564-1566)tccfs	p.S522fs	CCDC13-AS1_ENST00000446950.1_RNA|CCDC13-AS1_ENST00000418161.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	522										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						CTGGGCAGGGAAGGCCTCGTG	0.592																																							uc003cly.3		NA																	0				ovary(1)	1						c.(1564-1566)TCCfs		coiled-coil domain containing 13							51.0	42.0	45.0					3																	42774410		2180	4257	6437	SO:0001589	frameshift_variant	152206							g.chr3:42774410delA	AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.1564delT	3.37:g.42774410delA	ENSP00000309836:p.Ser522fs						p.S522fs	NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN			12	1648	-			522						Frame_Shift_Del	DEL	ENST00000310232.6	37	c.1564delT	CCDS2705.1																																																																																				0.592	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1	NM_144719		2	4	NA	NA	NA	NA	NA	2	4	---	---	---	---
RAD54L2	23132	broad.mit.edu	37	3	51624506	51624508	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	GAG	GAG	-	-	GAG	GAG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr3:51624506_51624508delGAG	ENST00000409535.2	+	2	195_197	c.70_72delGAG	c.(70-72)gagdel	p.E30del		NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	30						nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		ggatgcggaagaggaggaggagg	0.586																																							uc011bdt.1		NA																	0				ovary(3)	3						c.(70-72)GAGdel		RAD54-like 2																																				SO:0001651	inframe_deletion	23132					nucleus	ATP binding|DNA binding|helicase activity	g.chr3:51624506_51624508delGAG	AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.70_72delGAG	3.37:g.51624515_51624517delGAG	ENSP00000386520:p.Glu30del					RAD54L2_uc003dbh.2_5'UTR	p.E30del	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)	2	195_197	+			30					Q8TB57|Q9BV54	In_Frame_Del	DEL	ENST00000409535.2	37	c.70_72delGAG	CCDS33765.2																																																																																				0.586	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328700.2	NM_015106		2	4	NA	NA	NA	NA	NA	2	4	---	---	---	---
MAS1L	116511	broad.mit.edu	37	6	29455156	29455157	+	Frame_Shift_Del	DEL	AC	AC	-	rs200721788|rs146992654|rs372287572|rs577687250	byFrequency	TCGA-69-7763-01A-11D-2167-08	TCGA-69-7763-10A-01D-2167-08	AC	AC	-	-	AC	AC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8dbe8f2d-38c0-4d35-bb53-d43e759784ee	da990b8c-9ccd-4a64-811b-5a6a6177ac99	g.chr6:29455156_29455157delAC	ENST00000377127.3	-	1	581_582	c.523_524delGT	c.(523-525)gtcfs	p.V175fs		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	175					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						GGGGAAGAGGACACACACACAC	0.495														7	0.00139776	0.0045	0.0	5008	,	,		21251	0.0		0.0	False		,,,				2504	0.001				NSCLC(153;755 1987 3859 11251 32945)	NSCLC(153;755 1987 3859 11251 32945)	uc011dlq.1		NA																	0				ovary(7)|lung(2)	9						c.(523-525)GTCfs		MAS1 oncogene-like				52,4210		1,50,2080						-4.7	0.0		dbSNP_134	66	110,8144		1,108,4018	yes	frameshift	MAS1L	NM_052967.1		2,158,6098	A1A1,A1R,RR		1.3327,1.2201,1.2943				162,12354				SO:0001589	frameshift_variant	116511					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	g.chr6:29455156_29455157delAC	S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"""GPCR / Class A : Orphans"""	13961	protein-coding gene	gene with protein product		607235	"""MAS1 oncogene-like"""				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.523_524delGT	6.37:g.29455166_29455167delAC	ENSP00000366331:p.Val175fs						p.V175fs	NM_052967	NP_443199	P35410	MAS1L_HUMAN			1	523_524	-			175			Cytoplasmic (Potential).		Q5SUN5	Frame_Shift_Del	DEL	ENST00000377127.3	37	c.523_524delGT	CCDS4661.1																																																																																				0.495	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	NM_052967		7	122	NA	NA	NA	NA	NA	7	122	---	---	---	---
