#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
RERE	473	broad.mit.edu	37	1	8674637	8674637	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:8674637C>T	ENST00000337907.3	-	5	1139	c.505G>A	c.(505-507)Ggg>Agg	p.G169R	RERE_ENST00000400907.2_Missense_Mutation_p.G169R|RERE_ENST00000400908.2_Missense_Mutation_p.G169R	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	169	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GGCCCTCTCCCGGCTTCAGAA	0.507																																						uc001ape.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(505-507)GGG>AGG		atrophin-1 like protein isoform a							77.0	88.0	85.0					1																	8674637		2203	4300	6503	SO:0001583	missense	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8674637C>T	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.505G>A	1.37:g.8674637C>T	ENSP00000338629:p.Gly169Arg					RERE_uc001apf.2_Missense_Mutation_p.G169R|RERE_uc001aph.1_Missense_Mutation_p.G169R	p.G169R	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	5	1315	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	169			BAH.		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	c.505G>A	CCDS95.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.827611	0.50845	.	.	ENSG00000142599	ENST00000337907;ENST00000400907;ENST00000400908	T;T	0.45276	0.9;0.9	5.33	5.33	0.75918	Bromo adjacent homology (BAH) domain (3);	.	.	.	.	T	0.51873	0.1700	L	0.29908	0.895	0.44485	D	0.997422	D	0.89917	1.0	D	0.91635	0.999	T	0.47394	-0.9121	9	0.45353	T	0.12	-23.5294	14.3867	0.66949	0.0:1.0:0.0:0.0	.	169	Q9P2R6	RERE_HUMAN	R	169	ENSP00000338629:G169R;ENSP00000383700:G169R	ENSP00000338629:G169R	G	-	1	0	RERE	8597224	0.955000	0.32602	1.000000	0.80357	1.000000	0.99986	1.009000	0.29886	2.768000	0.95171	0.655000	0.94253	GGG		0.507	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			13	183	0	0	0	0	13	183				
PEX14	5195	broad.mit.edu	37	1	10659377	10659377	+	Silent	SNP	A	A	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:10659377A>C	ENST00000356607.4	+	4	332	c.252A>C	c.(250-252)acA>acC	p.T84T	PEX14_ENST00000538836.1_Silent_p.T20T	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	84					microtubule anchoring (GO:0034453)|negative regulation of protein binding (GO:0032091)|negative regulation of protein homotetramerization (GO:1901094)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peroxisome organization (GO:0007031)|peroxisome transport along microtubule (GO:0036250)|protein complex assembly (GO:0006461)|protein homooligomerization (GO:0051260)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, substrate release (GO:0044721)|protein import into peroxisome matrix, translocation (GO:0016561)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		GCCCAGCCACACAGGTGGTTC	0.557																																						uc001arn.2		NA																	0				breast(1)	1						c.(250-252)ACA>ACC		peroxisomal biogenesis factor 14							110.0	98.0	102.0					1																	10659377		2203	4300	6503	SO:0001819	synonymous_variant	5195				negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity	g.chr1:10659377A>C	AF045186	CCDS30582.1	1p36.22	2008-05-14			ENSG00000142655	ENSG00000142655			8856	protein-coding gene	gene with protein product		601791				9653144	Standard	NM_004565		Approved		uc001arn.3	O75381	OTTHUMG00000001908	ENST00000356607.4:c.252A>C	1.37:g.10659377A>C						PEX14_uc009vmu.1_Intron|PEX14_uc009vmv.2_Silent_p.T20T|PEX14_uc010oam.1_Silent_p.T20T|PEX14_uc010oan.1_Intron|PEX14_uc009vmw.2_Silent_p.T20T	p.T84T	NM_004565	NP_004556	O75381	PEX14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)	4	273	+	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)	84					B2R7N1|B3KML6|B7Z1N2|Q8WX51	Silent	SNP	ENST00000356607.4	37	c.252A>C	CCDS30582.1																																																																																				0.557	PEX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005414.1			10	157	0	0	0	0	10	157				
TARDBP	23435	broad.mit.edu	37	1	11073908	11073908	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:11073908C>T	ENST00000240185.3	+	2	238	c.124C>T	c.(124-126)Cgc>Tgc	p.R42C	TARDBP_ENST00000439080.2_5'UTR|TARDBP_ENST00000315091.3_Missense_Mutation_p.R42C	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein	42					3'-UTR-mediated mRNA stabilization (GO:0070935)|cell death (GO:0008219)|mRNA processing (GO:0006397)|negative regulation by host of viral transcription (GO:0043922)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		GTGTGGGCTTCGCTACAGGAA	0.542																																						uc001art.2		NA																	0				ovary(2)	2						c.(124-126)CGC>TGC		TAR DNA binding protein							69.0	64.0	66.0					1																	11073908		2203	4300	6503	SO:0001583	missense	23435				3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:11073908C>T	U23731	CCDS122.1	1p36.22	2014-09-17			ENSG00000120948	ENSG00000120948		"""RNA binding motif (RRM) containing"""	11571	protein-coding gene	gene with protein product		605078				7745706	Standard	NM_007375		Approved	TDP-43, ALS10	uc001art.3	Q13148	OTTHUMG00000002120	ENST00000240185.3:c.124C>T	1.37:g.11073908C>T	ENSP00000240185:p.Arg42Cys					TARDBP_uc010oap.1_5'UTR	p.R42C	NM_007375	NP_031401	Q13148	TADBP_HUMAN	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)	2	258	+	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	42					A4GUK4|A4GUK5|A4GUK6|B2R629|B4DJ45|E2PU12|Q53H27|Q6FI92|Q96DJ0	Missense_Mutation	SNP	ENST00000240185.3	37	c.124C>T	CCDS122.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.260976	0.59431	.	.	ENSG00000120948	ENST00000240185;ENST00000315091	D;D	0.84660	-1.88;-1.88	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.79347	0.4430	L	0.35723	1.085	0.80722	D	1	B	0.24721	0.11	B	0.18561	0.022	T	0.77680	-0.2497	10	0.87932	D	0	-6.2617	13.9144	0.63887	0.1521:0.8479:0.0:0.0	.	42	Q13148	TADBP_HUMAN	C	42	ENSP00000240185:R42C;ENSP00000313129:R42C	ENSP00000240185:R42C	R	+	1	0	TARDBP	10996495	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.532000	0.60608	2.481000	0.83766	0.650000	0.86243	CGC		0.542	TARDBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006063.1	NM_007375		11	90	0	0	0	0	11	90				
AADACL3	126767	broad.mit.edu	37	1	12785336	12785336	+	Silent	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:12785336C>A	ENST00000359318.5	+	4	631	c.426C>A	c.(424-426)gcC>gcA	p.A142A	AADACL3_ENST00000332530.3_Silent_p.A72A	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	142							hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCAATAGCCGCAGTGGTTT	0.567																																						uc009vnn.1		NA																	0					0						c.(424-426)GCC>GCA		arylacetamide deacetylase-like 3 isoform 1							94.0	97.0	96.0					1																	12785336		1934	4140	6074	SO:0001819	synonymous_variant	126767						hydrolase activity	g.chr1:12785336C>A		CCDS41253.1	1p36.21	2014-07-17			ENSG00000188984	ENSG00000188984			32037	protein-coding gene	gene with protein product							Standard	XM_006710337		Approved	OTTHUMG00000001887	uc009vnn.1	Q5VUY0	OTTHUMG00000001887	ENST00000359318.5:c.426C>A	1.37:g.12785336C>A						AADACL3_uc001aug.1_Silent_p.A72A	p.A142A	NM_001103170	NP_001096640	Q5VUY0	ADCL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	4	659	+	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	142					B3KXR9|Q5VUY1	Silent	SNP	ENST00000359318.5	37	c.426C>A	CCDS41253.1																																																																																				0.567	AADACL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005324.2	NM_001103170		12	154	1	0	7.04e-09	7.57e-09	12	154				
NIPAL3	57185	broad.mit.edu	37	1	24779986	24779986	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:24779986C>T	ENST00000374399.4	+	7	997	c.629C>T	c.(628-630)gCg>gTg	p.A210V	NIPAL3_ENST00000339255.2_Missense_Mutation_p.A210V|NIPAL3_ENST00000358028.4_Missense_Mutation_p.A210V|NIPAL3_ENST00000003912.3_Missense_Mutation_p.A128V|NIPAL3_ENST00000428131.1_Missense_Mutation_p.A210V	NM_020448.4	NP_065181.1	Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	210						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						CTCTTGGTGGCGTTACTTGGT	0.483																																						uc001bjh.2		NA																	0					0						c.(628-630)GCG>GTG		NIPA-like domain containing 3							138.0	114.0	122.0					1																	24779986		2203	4300	6503	SO:0001583	missense	57185					integral to membrane		g.chr1:24779986C>T	BX640883	CCDS30631.1	1p36.12-p35.1	2009-03-24		2009-03-24	ENSG00000001461	ENSG00000001461			25233	protein-coding gene	gene with protein product				NPAL3		8619474, 9110174	Standard	NM_020448		Approved	DJ462O23.2	uc001bjh.3	Q6P499	OTTHUMG00000003299	ENST00000374399.4:c.629C>T	1.37:g.24779986C>T	ENSP00000363520:p.Ala210Val					NIPAL3_uc010oek.1_Missense_Mutation_p.A210V|NIPAL3_uc001bjg.2_Missense_Mutation_p.A210V|NIPAL3_uc009vrc.2_Missense_Mutation_p.A128V|NIPAL3_uc001bji.2_5'Flank	p.A210V	NM_020448	NP_065181	Q6P499	NPAL3_HUMAN			7	1036	+			210			Helical; (Potential).		A2A298|Q6MZT9|Q9BVE6	Missense_Mutation	SNP	ENST00000374399.4	37	c.629C>T	CCDS30631.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.636858	0.87760	.	.	ENSG00000001461	ENST00000374399;ENST00000003912;ENST00000358028;ENST00000339255;ENST00000428131	D;D;D;D;D	0.90844	-2.74;-2.74;-2.74;-2.74;-2.74	4.68	4.68	0.58851	.	0.097452	0.64402	D	0.000001	D	0.95059	0.8400	M	0.79805	2.47	0.80722	D	1	D;P;D	0.89917	1.0;0.936;0.969	D;B;B	0.66716	0.946;0.355;0.433	D	0.95696	0.8745	10	0.72032	D	0.01	-22.9525	16.9896	0.86350	0.0:1.0:0.0:0.0	.	210;210;210	Q6P499-3;Q6P499;A6NN97	.;NPAL3_HUMAN;.	V	210;128;210;210;210	ENSP00000363520:A210V;ENSP00000003912:A128V;ENSP00000350722:A210V;ENSP00000343549:A210V;ENSP00000406509:A210V	ENSP00000003912:A128V	A	+	2	0	NIPAL3	24652573	1.000000	0.71417	0.940000	0.37924	0.654000	0.38779	7.233000	0.78125	2.317000	0.78254	0.561000	0.74099	GCG		0.483	NIPAL3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276996.1	NM_020448		6	56	0	0	0	0	6	56				
CATSPER4	378807	broad.mit.edu	37	1	26520297	26520297	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:26520297C>T	ENST00000456354.2	+	3	444	c.377C>T	c.(376-378)tCt>tTt	p.S126F		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	126					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		GAGTTGTTCTCTACCATAGAT	0.507																																						uc010oez.1		NA																	0				ovary(1)	1						c.(376-378)TCT>TTT		cation channel, sperm associated 4							200.0	170.0	180.0					1																	26520297		2203	4300	6503	SO:0001583	missense	378807				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr1:26520297C>T	BN000273	CCDS30645.1	1p35.3	2011-07-05			ENSG00000188782	ENSG00000188782		"""Voltage-gated ion channels / Cation channels, sperm associated"""	23220	protein-coding gene	gene with protein product		609121				12932298, 17227845, 16382101	Standard	NM_198137		Approved		uc010oez.2	Q7RTX7	OTTHUMG00000003383	ENST00000456354.2:c.377C>T	1.37:g.26520297C>T	ENSP00000390423:p.Ser126Phe					CATSPER4_uc010oey.1_5'UTR|CATSPER4_uc009vsf.2_RNA	p.S126F	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)	3	377	+		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)	126			Extracellular (Potential).		A1A4W6|Q5VY71	Missense_Mutation	SNP	ENST00000456354.2	37	c.377C>T	CCDS30645.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.160027	0.57368	.	.	ENSG00000188782	ENST00000338855;ENST00000456354	D;D	0.97209	-4.29;-4.29	4.87	4.87	0.63330	.	0.000000	0.49305	D	0.000154	D	0.97501	0.9182	L	0.54323	1.7	0.37805	D	0.927827	D	0.89917	1.0	D	0.87578	0.998	D	0.97840	1.0268	10	0.34782	T	0.22	-10.1023	13.4843	0.61355	0.0:1.0:0.0:0.0	.	126	Q7RTX7	CTSR4_HUMAN	F	126	ENSP00000341006:S126F;ENSP00000390423:S126F	ENSP00000341006:S126F	S	+	2	0	CATSPER4	26392884	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	4.020000	0.57189	2.238000	0.73509	0.491000	0.48974	TCT		0.507	CATSPER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019849.2	NM_198137		27	227	0	0	0	0	27	227				
WDTC1	23038	broad.mit.edu	37	1	27614167	27614167	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:27614167C>G	ENST00000319394.3	+	6	829	c.294C>G	c.(292-294)ttC>ttG	p.F98L	WDTC1_ENST00000361771.3_Missense_Mutation_p.F98L	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	98					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CTATATAGTTCCTGCCTCACG	0.542																																						uc009vst.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(292-294)TTC>TTG		WD and tetratricopeptide repeats 1							52.0	43.0	46.0					1																	27614167		2203	4300	6503	SO:0001583	missense	23038						protein binding	g.chr1:27614167C>G	AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29175	protein-coding gene	gene with protein product	"""adipose homolog (Drosophila)"", ""DDB1 and CUL4 associated factor 9"""					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.294C>G	1.37:g.27614167C>G	ENSP00000317971:p.Phe98Leu					WDTC1_uc001bno.2_Missense_Mutation_p.F98L|WDTC1_uc001bnp.1_RNA	p.F98L	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)	6	829	+		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	98			WD 2.		D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Missense_Mutation	SNP	ENST00000319394.3	37	c.294C>G		.	.	.	.	.	.	.	.	.	.	C	17.10	3.304089	0.60305	.	.	ENSG00000142784	ENST00000319394;ENST00000361771	T;T	0.67171	-0.25;-0.25	4.55	2.57	0.30868	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.81574	0.4851	M	0.90425	3.115	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.996	T	0.82000	-0.0674	10	0.66056	D	0.02	.	7.6308	0.28238	0.0:0.7112:0.0:0.2888	.	98;98	Q8N5D0;Q8N5D0-4	WDTC1_HUMAN;.	L	98	ENSP00000317971:F98L;ENSP00000355317:F98L	ENSP00000317971:F98L	F	+	3	2	WDTC1	27486754	1.000000	0.71417	1.000000	0.80357	0.485000	0.33311	1.421000	0.34815	1.184000	0.42957	-0.345000	0.07892	TTC		0.542	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015023		3	31	0	0	0	0	3	31				
AHDC1	27245	broad.mit.edu	37	1	27874901	27874901	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:27874901G>A	ENST00000247087.5	-	5	4322	c.3726C>T	c.(3724-3726)ttC>ttT	p.F1242F	AHDC1_ENST00000374011.2_Silent_p.F1242F			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1242							DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GTGAGGCCTCGAACAGGTCCA	0.652																																						uc009vsy.2		NA																	0				central_nervous_system(1)	1						c.(3724-3726)TTC>TTT		AT hook, DNA binding motif, containing 1							43.0	53.0	50.0					1																	27874901		2203	4300	6503	SO:0001819	synonymous_variant	27245						DNA binding	g.chr1:27874901G>A	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.3726C>T	1.37:g.27874901G>A						AHDC1_uc009vsz.1_Silent_p.F1242F	p.F1242F	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	6	4695	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1242					Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Silent	SNP	ENST00000247087.5	37	c.3726C>T	CCDS30652.1																																																																																				0.652	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			8	59	0	0	0	0	8	59				
SDC3	9672	broad.mit.edu	37	1	31347180	31347180	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:31347180G>A	ENST00000339394.6	-	4	1300	c.1126C>T	c.(1126-1128)Cag>Tag	p.Q376*	SDC3_ENST00000336798.7_Nonsense_Mutation_p.Q318*|SDC3_ENST00000471567.1_5'Flank	NM_014654.3	NP_055469.3	O75056	SDC3_HUMAN	syndecan 3	376					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		ATACTCTTCTGAGGCAGCTGA	0.652																																						uc001bse.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1126-1128)CAG>TAG		syndecan 3							34.0	38.0	36.0					1																	31347180		2203	4300	6503	SO:0001587	stop_gained	9672					integral to membrane	cytoskeletal protein binding	g.chr1:31347180G>A	AF248634	CCDS30661.1	1p35.2	2013-09-19	2007-02-15		ENSG00000162512	ENSG00000162512		"""Proteoglycans / Cell Surface : Syndecans"""	10660	protein-coding gene	gene with protein product	"""syndecan proteoglycan 3"""	186357	"""syndecan 3 (N-syndecan)"""			1556152, 11527150	Standard	NM_014654		Approved	N-syndecan, SYND3	uc001bse.2	O75056	OTTHUMG00000043646	ENST00000339394.6:c.1126C>T	1.37:g.31347180G>A	ENSP00000344468:p.Gln376*					SDC3_uc001bsd.2_Nonsense_Mutation_p.Q318*	p.Q376*	NM_014654	NP_055469	O75056	SDC3_HUMAN		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)	4	1173	-		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)	376			Extracellular (Potential).		Q5T1Z6|Q5T1Z7|Q96CT3|Q96PR8	Nonsense_Mutation	SNP	ENST00000339394.6	37	c.1126C>T	CCDS30661.1	.	.	.	.	.	.	.	.	.	.	G	50	16.651889	0.99868	.	.	ENSG00000162512	ENST00000336798;ENST00000339394	.	.	.	4.84	4.84	0.62591	.	0.000000	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-14.8949	18.1363	0.89620	0.0:0.0:1.0:0.0	.	.	.	.	X	318;376	.	ENSP00000338346:Q318X	Q	-	1	0	SDC3	31119767	1.000000	0.71417	0.994000	0.49952	0.987000	0.75469	9.208000	0.95075	2.535000	0.85469	0.563000	0.77884	CAG		0.652	SDC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102017.1	NM_014654		7	52	0	0	0	0	7	52				
HCRTR1	3061	broad.mit.edu	37	1	32085276	32085276	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:32085276G>A	ENST00000373706.5	+	2	496	c.343G>A	c.(343-345)Ggc>Agc	p.G115S	HCRTR1_ENST00000373705.1_Missense_Mutation_p.G115S|HCRTR1_ENST00000468521.1_Intron|HCRTR1_ENST00000403528.2_Missense_Mutation_p.G115S			O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	115					feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|orexin receptor activity (GO:0016499)|peptide hormone binding (GO:0017046)			breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		CTGGCTGTTCGGCCATGCCCT	0.582																																						uc009vtx.2		NA																	0				ovary(1)	1						c.(343-345)GGC>AGC		orexin receptor 1							118.0	87.0	98.0					1																	32085276		2203	4300	6503	SO:0001583	missense	3061				feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane		g.chr1:32085276G>A	AF041243	CCDS344.1	1p33	2012-08-08			ENSG00000121764	ENSG00000121764		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4848	protein-coding gene	gene with protein product		602392				9491897	Standard	NM_001525		Approved	OX1R	uc009vtx.2	O43613	OTTHUMG00000003876	ENST00000373706.5:c.343G>A	1.37:g.32085276G>A	ENSP00000362810:p.Gly115Ser					HCRTR1_uc001btb.2_Intron|HCRTR1_uc001btc.3_Intron|HCRTR1_uc001btd.2_Missense_Mutation_p.G115S|HCRTR1_uc010ogl.1_Missense_Mutation_p.G115S	p.G115S	NM_001525	NP_001516	O43613	OX1R_HUMAN		STAD - Stomach adenocarcinoma(196;0.053)	4	728	+		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)	115			Extracellular (Potential).		A8K3A6|Q9HBV6	Missense_Mutation	SNP	ENST00000373706.5	37	c.343G>A	CCDS344.1	.	.	.	.	.	.	.	.	.	.	G	31	5.059499	0.93846	.	.	ENSG00000121764	ENST00000403528;ENST00000373706;ENST00000373705	T;T;T	0.40225	1.04;1.04;1.04	4.45	4.45	0.53987	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.67730	0.2924	M	0.85099	2.735	0.52099	D	0.999942	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.73655	-0.3914	10	0.62326	D	0.03	.	15.3972	0.74805	0.0:0.0:1.0:0.0	.	115;115	A6NMV7;O43613	.;OX1R_HUMAN	S	115	ENSP00000384387:G115S;ENSP00000362810:G115S;ENSP00000362809:G115S	ENSP00000362809:G115S	G	+	1	0	HCRTR1	31857863	1.000000	0.71417	0.973000	0.42090	0.956000	0.61745	9.407000	0.97325	2.383000	0.81215	0.655000	0.94253	GGC		0.582	HCRTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011042.1	NM_001525		7	52	0	0	0	0	7	52				
AGO3	192669	broad.mit.edu	37	1	36520550	36520550	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:36520550A>G	ENST00000373191.4	+	18	2627	c.2278A>G	c.(2278-2280)Acc>Gcc	p.T760A	AGO3_ENST00000471099.1_3'UTR|AGO3_ENST00000246314.6_Missense_Mutation_p.T526A	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	760	Piwi. {ECO:0000255|HAMAP-Rule:MF_03032}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of stem cell proliferation (GO:0072091)	cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)										TCTATAGGGTACCAGTCGTCC	0.408																																						uc001bzp.2		NA																	0					0						c.(2278-2280)ACC>GCC		eukaryotic translation initiation factor 2C, 3							179.0	146.0	157.0					1																	36520550		2203	4300	6503	SO:0001583	missense	192669				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding	g.chr1:36520550A>G	AB046787	CCDS399.1, CCDS400.1	1p34	2013-06-03	2013-02-15	2013-02-15	ENSG00000126070	ENSG00000126070		"""Argonaute/PIWI family"""	18421	protein-coding gene	gene with protein product	"""argonaute 3"""	607355	"""eukaryotic translation initiation factor 2C, 3"""	EIF2C3		12906857	Standard	NM_024852		Approved	hAGO3, FLJ12765	uc001bzp.3	Q9H9G7	OTTHUMG00000184172	ENST00000373191.4:c.2278A>G	1.37:g.36520550A>G	ENSP00000362287:p.Thr760Ala					EIF2C3_uc001bzq.2_Missense_Mutation_p.T526A	p.T760A	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN			18	2534	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	760			Piwi.		B1ALI0|Q5TA55|Q9H1U6	Missense_Mutation	SNP	ENST00000373191.4	37	c.2278A>G	CCDS399.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.028195	0.75390	.	.	ENSG00000126070	ENST00000373191;ENST00000246314	T;T	0.50548	0.74;0.74	5.7	5.7	0.88788	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.81669	0.4871	H	0.98701	4.305	0.80722	D	1	D	0.67145	0.996	D	0.79784	0.993	D	0.89356	0.3664	10	0.87932	D	0	-21.7372	15.9698	0.80004	1.0:0.0:0.0:0.0	.	760	Q9H9G7	AGO3_HUMAN	A	760;526	ENSP00000362287:T760A;ENSP00000246314:T526A	ENSP00000246314:T526A	T	+	1	0	EIF2C3	36293137	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.265000	0.95647	2.183000	0.69458	0.533000	0.62120	ACC		0.408	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019831.4	NM_024852		10	149	0	0	0	0	10	149				
FOXJ3	22887	broad.mit.edu	37	1	42655054	42655054	+	Missense_Mutation	SNP	G	G	A	rs61753350		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:42655054G>A	ENST00000372572.1	-	12	1684	c.1373C>T	c.(1372-1374)gCg>gTg	p.A458V	FOXJ3_ENST00000545068.1_Missense_Mutation_p.A458V|FOXJ3_ENST00000361346.1_Missense_Mutation_p.A458V|FOXJ3_ENST00000372571.1_5'UTR|FOXJ3_ENST00000372573.1_Missense_Mutation_p.A458V|FOXJ3_ENST00000361776.1_Missense_Mutation_p.A424V	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	458					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATCAAGTGTCGCATACCAATC	0.403																																						uc001che.2		NA																	0				ovary(2)	2						c.(1372-1374)GCG>GTG		forkhead box J3							88.0	81.0	83.0					1																	42655054		2203	4300	6503	SO:0001583	missense	22887				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr1:42655054G>A	AB028964	CCDS30689.1, CCDS55594.1	1p34.2	2008-04-10			ENSG00000198815	ENSG00000198815		"""Forkhead boxes"""	29178	protein-coding gene	gene with protein product							Standard	NM_014947		Approved	KIAA1041	uc001chf.3	Q9UPW0	OTTHUMG00000007026	ENST00000372572.1:c.1373C>T	1.37:g.42655054G>A	ENSP00000361653:p.Ala458Val					FOXJ3_uc001chf.2_Missense_Mutation_p.A458V|FOXJ3_uc001chg.2_Missense_Mutation_p.A458V	p.A458V	NM_014947	NP_055762	Q9UPW0	FOXJ3_HUMAN			12	1685	-	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	458					A7MBL7|A7MD18|D3DPW2|Q9NSS7	Missense_Mutation	SNP	ENST00000372572.1	37	c.1373C>T	CCDS30689.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.294716	0.81025	.	.	ENSG00000198815	ENST00000372573;ENST00000372572;ENST00000361346;ENST00000361776;ENST00000545068	D;D;D;D;D	0.93307	-3.19;-3.19;-3.19;-3.2;-3.19	5.82	5.82	0.92795	.	0.260793	0.37623	N	0.002007	D	0.85004	0.5598	N	0.08118	0	0.44995	D	0.998014	P	0.43352	0.804	B	0.33392	0.163	D	0.88064	0.2796	10	0.72032	D	0.01	.	17.5929	0.88003	0.0:0.0:1.0:0.0	.	458	Q9UPW0	FOXJ3_HUMAN	V	458;458;458;424;458	ENSP00000361654:A458V;ENSP00000361653:A458V;ENSP00000354620:A458V;ENSP00000354449:A424V;ENSP00000439044:A458V	ENSP00000354620:A458V	A	-	2	0	FOXJ3	42427641	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.417000	0.90247	2.752000	0.94435	0.655000	0.94253	GCG		0.403	FOXJ3-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000018310.1	NM_014947		7	67	0	0	0	0	7	67				
EIF2B3	8891	broad.mit.edu	37	1	45341334	45341334	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:45341334C>G	ENST00000360403.2	-	9	1135	c.1009G>C	c.(1009-1011)Gaa>Caa	p.E337Q	EIF2B3_ENST00000372183.3_Missense_Mutation_p.E337Q	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	337					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	guanyl-nucleotide exchange factor activity (GO:0005085)|nucleotidyltransferase activity (GO:0016779)|translation initiation factor activity (GO:0003743)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					ACTGGTGGTTCTTCTGGACAG	0.507																																					Colon(26;357 658 2581 11857 12657)	uc001cmt.1		NA																	0				ovary(1)	1						c.(1009-1011)GAA>CAA		eukaryotic translation initiation factor 2B,							159.0	142.0	148.0					1																	45341334		2203	4300	6503	SO:0001583	missense	8891				negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity	g.chr1:45341334C>G	AF257077	CCDS517.1, CCDS53313.1, CCDS72775.1	1p34.1	2008-02-05	2002-08-29		ENSG00000070785	ENSG00000070785			3259	protein-coding gene	gene with protein product		606273	"""eukaryotic translation initiation factor 2B, subunit 3 (gamma, 58kD)"""			10900014	Standard	NM_020365		Approved	EIF2Bgamma, EIF-2B	uc001cmt.3	Q9NR50	OTTHUMG00000008585	ENST00000360403.2:c.1009G>C	1.37:g.45341334C>G	ENSP00000353575:p.Glu337Gln					EIF2B3_uc001cmu.1_Missense_Mutation_p.E337Q|EIF2B3_uc001cmv.1_Intron|EIF2B3_uc001cmw.2_Missense_Mutation_p.E337Q	p.E337Q	NM_020365	NP_065098	Q9NR50	EI2BG_HUMAN			9	1136	-	Acute lymphoblastic leukemia(166;0.155)		337					B2RBH8|D3DPZ2|Q5QP89|Q5QP90|Q8NDB5|Q8WV57|Q9H850	Missense_Mutation	SNP	ENST00000360403.2	37	c.1009G>C	CCDS517.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.98|18.98	3.738641|3.738641	0.69304|0.69304	.|.	.|.	ENSG00000070785|ENSG00000070785	ENST00000360403;ENST00000372183|ENST00000439363	T;D|.	0.89617|.	0.59;-2.54|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.044947|.	0.85682|.	D|.	0.000000|.	T|T	0.71324|0.71324	0.3326|0.3326	L|L	0.54323|0.54323	1.7|1.7	0.58432|0.58432	D|D	0.999997|0.999997	P;B|.	0.49559|.	0.925;0.161|.	P;B|.	0.54544|.	0.755;0.127|.	T|T	0.68183|0.68183	-0.5476|-0.5476	10|5	0.16420|.	T|.	0.52|.	-15.6269|-15.6269	18.7825|18.7825	0.91939|0.91939	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	337;337|.	Q9NR50-2;Q9NR50|.	.;EI2BG_HUMAN|.	Q|N	337|157	ENSP00000353575:E337Q;ENSP00000361257:E337Q|.	ENSP00000353575:E337Q|.	E|K	-|-	1|3	0|2	EIF2B3|EIF2B3	45113921|45113921	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.836000|0.836000	0.47400|0.47400	5.816000|5.816000	0.69222|0.69222	2.528000|2.528000	0.85240|0.85240	0.655000|0.655000	0.94253|0.94253	GAA|AAG		0.507	EIF2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023724.1	NM_020365		5	80	0	0	0	0	5	80				
POMGNT1	55624	broad.mit.edu	37	1	46655573	46655573	+	Nonsense_Mutation	SNP	G	G	A	rs386834018		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:46655573G>A	ENST00000371984.3	-	20	1895	c.1738C>T	c.(1738-1740)Cga>Tga	p.R580*	POMGNT1_ENST00000485714.1_5'Flank|POMGNT1_ENST00000371992.1_Nonsense_Mutation_p.R580*|POMGNT1_ENST00000535522.1_Nonsense_Mutation_p.R558*|POMGNT1_ENST00000371986.3_Nonsense_Mutation_p.R580*|POMGNT1_ENST00000396420.3_3'UTR	NM_017739.3	NP_060209	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	580					protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					TTCTCCATTCGAATAAAGGCC	0.547																																						uc001cpe.2		NA																	0				ovary(1)	1	GRCh37	CM077960	POMGNT1	M		c.(1738-1740)CGA>TGA		O-linked mannose							91.0	79.0	83.0					1																	46655573		2203	4300	6503	SO:0001587	stop_gained	55624				protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity	g.chr1:46655573G>A		CCDS531.1, CCDS57995.1	1p34.1	2014-09-17	2013-07-31		ENSG00000085998	ENSG00000085998	2.4.1.-	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	19139	protein-coding gene	gene with protein product	"""protein O-mannose beta-1,2-N-acetylglucosaminyltransferase"""	606822	"""muscle-eye-brain disease"", ""protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase"""	MEB		11742540, 12788071	Standard	NM_017739		Approved	FLJ20277, MGAT1.2, LGMD2O	uc001cpg.3	Q8WZA1	OTTHUMG00000007604	ENST00000371984.3:c.1738C>T	1.37:g.46655573G>A	ENSP00000361052:p.Arg580*					POMGNT1_uc010olx.1_Nonsense_Mutation_p.R558*|POMGNT1_uc010oly.1_RNA|POMGNT1_uc010olz.1_Nonsense_Mutation_p.R437*|POMGNT1_uc001cpg.2_Nonsense_Mutation_p.R580*|POMGNT1_uc001cpf.2_Nonsense_Mutation_p.R247*	p.R580*	NM_017739	NP_060209	Q8WZA1	PMGT1_HUMAN			20	1902	-	Acute lymphoblastic leukemia(166;0.155)		580			Lumenal (Potential).		D3DQ16|Q5VST2|Q5VST3|Q9BV55|Q9H9L8|Q9NXF9|Q9NYF7	Nonsense_Mutation	SNP	ENST00000371984.3	37	c.1738C>T	CCDS531.1	.	.	.	.	.	.	.	.	.	.	G	38	7.196904	0.98129	.	.	ENSG00000085998	ENST00000371984;ENST00000371992;ENST00000535522;ENST00000371986	.	.	.	5.92	5.92	0.95590	.	0.183525	0.44902	D	0.000416	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-0.5103	13.2292	0.59933	0.0:0.0:0.7385:0.2615	.	.	.	.	X	580;580;558;580	.	ENSP00000361052:R580X	R	-	1	2	POMGNT1	46428160	1.000000	0.71417	0.999000	0.59377	0.931000	0.56810	6.685000	0.74543	2.795000	0.96236	0.655000	0.94253	CGA		0.547	POMGNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020146.1	NM_017739		6	56	0	0	0	0	6	56				
SLC5A9	200010	broad.mit.edu	37	1	48703350	48703350	+	Splice_Site	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:48703350G>A	ENST00000438567.2	+	11	1344		c.e11-1		SLC5A9_ENST00000533824.1_Splice_Site|SLC5A9_ENST00000420136.2_Splice_Site|SLC5A9_ENST00000236495.5_Splice_Site	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9						sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						CTCTCTGGCAGAGTGTTTGTG	0.567																																						uc001cro.2		NA																	0				ovary(3)	3						c.e11-1		solute carrier family 5 (sodium/glucose							176.0	139.0	151.0					1																	48703350		2203	4300	6503	SO:0001630	splice_region_variant	200010					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity	g.chr1:48703350G>A	BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"""Solute carriers"""	22146	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 9"""				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.1293-1G>A	1.37:g.48703350G>A						SLC5A9_uc010oms.1_Splice_Site|SLC5A9_uc001crn.2_Splice_Site_p.R456_splice|SLC5A9_uc010omt.1_Splice_Site_p.R445_splice|SLC5A9_uc001crp.2_Splice_Site_p.R98_splice|SLC5A9_uc010omu.1_Splice_Site_p.R98_splice|SLC5A9_uc009vyt.1_5'Flank	p.R431_splice	NM_001011547	NP_001011547	Q2M3M2	SC5A9_HUMAN			11	1345	+								B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Splice_Site	SNP	ENST00000438567.2	37	c.1293_splice	CCDS30709.2	.	.	.	.	.	.	.	.	.	.	g	20.6	4.025961	0.75390	.	.	ENSG00000117834	ENST00000533824;ENST00000438567;ENST00000236495	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5459	0.87861	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC5A9	48475937	1.000000	0.71417	0.999000	0.59377	0.903000	0.53119	9.657000	0.98554	2.624000	0.88883	0.651000	0.88453	.		0.567	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022061.3	XM_117174	Intron	6	98	0	0	0	0	6	98				
MRPL37	51253	broad.mit.edu	37	1	54681872	54681872	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:54681872G>A	ENST00000360840.5	+	6	1126	c.1049G>A	c.(1048-1050)cGt>cAt	p.R350H	MRPL37_ENST00000605337.1_Missense_Mutation_p.R350H|MRPL37_ENST00000336230.6_Missense_Mutation_p.R219H	NM_016491.3	NP_057575.2	Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	350					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						ACGGATGGACGTGTCTTCCAT	0.517																																						uc001cxa.3		NA																	0					0						c.(1048-1050)CGT>CAT		mitochondrial ribosomal protein L37 precursor							184.0	158.0	167.0					1																	54681872		2203	4300	6503	SO:0001583	missense	51253				translation	mitochondrial ribosome	structural constituent of ribosome	g.chr1:54681872G>A	AB051344	CCDS589.1	1p32.1	2012-09-13			ENSG00000116221	ENSG00000116221		"""Mitochondrial ribosomal proteins / large subunits"""	14034	protein-coding gene	gene with protein product		611843				10600119	Standard	NM_016491		Approved	RPML2, MRP-L2	uc001cxa.4	Q9BZE1	OTTHUMG00000008118	ENST00000360840.5:c.1049G>A	1.37:g.54681872G>A	ENSP00000354086:p.Arg350His					MRPL37_uc009vzp.2_Missense_Mutation_p.R219H|MRPL37_uc001cxb.1_Missense_Mutation_p.R350H|MRPL37_uc001cxc.3_Missense_Mutation_p.R38H|MRPL37_uc010oob.1_RNA	p.R350H	NM_016491	NP_057575	Q9BZE1	RM37_HUMAN			6	1126	+			350					Q96Q67|Q9BWR1|Q9P0P3	Missense_Mutation	SNP	ENST00000360840.5	37	c.1049G>A	CCDS589.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.62|17.62	3.434521|3.434521	0.62955|0.62955	.|.	.|.	ENSG00000116221|ENSG00000116221	ENST00000360840;ENST00000329505;ENST00000336230|ENST00000398219	T;T|.	0.18960|.	2.18;2.18|.	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	0.104660|.	0.64402|.	D|.	0.000003|.	T|T	0.61714|0.61714	0.2369|0.2369	M|M	0.63428|0.63428	1.95|1.95	0.53688|0.53688	D|D	0.999977|0.999977	P;D;D|.	0.89917|.	0.75;0.972;1.0|.	B;B;D|.	0.74674|.	0.212;0.404;0.984|.	T|T	0.62096|0.62096	-0.6926|-0.6926	10|5	0.54805|.	T|.	0.06|.	-11.0091|-11.0091	7.0117|7.0117	0.24865|0.24865	0.2113:0.0:0.7887:0.0|0.2113:0.0:0.7887:0.0	.|.	219;287;350|.	A6NHR2;E9PB99;Q9BZE1|.	.;.;RM37_HUMAN|.	H|M	350;287;219|135	ENSP00000354086:R350H;ENSP00000338526:R219H|.	ENSP00000328799:R287H|.	R|V	+|+	2|1	0|0	MRPL37|MRPL37	54454460|54454460	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.482000|0.482000	0.33219|0.33219	4.579000|4.579000	0.60936|0.60936	2.504000|2.504000	0.84457|0.84457	0.455000|0.455000	0.32223|0.32223	CGT|GTG		0.517	MRPL37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022224.1	NM_016491		22	206	0	0	0	0	22	206				
USP24	23358	broad.mit.edu	37	1	55561055	55561055	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:55561055C>T	ENST00000294383.6	-	51	6075	c.6076G>A	c.(6076-6078)Gat>Aat	p.D2026N	USP24_ENST00000407756.1_Missense_Mutation_p.D1866N	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2026	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						CGGCGCACATCAGTGTATGGG	0.388																																						uc001cyg.3		NA																	0				ovary(6)|kidney(6)|breast(1)	13						c.(5596-5598)GAT>AAT		ubiquitin specific protease 24							69.0	69.0	69.0					1																	55561055		2192	4292	6484	SO:0001583	missense	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55561055C>T	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.6076G>A	1.37:g.55561055C>T	ENSP00000294383:p.Asp2026Asn						p.D1866N	NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN			48	5596	-			2026					Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	37	c.5596G>A	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	C	22.5	4.300300	0.81136	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.02280	4.36;4.37	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.07999	0.0200	L	0.33093	0.98	0.80722	D	1	D	0.64830	0.994	D	0.66716	0.946	T	0.45026	-0.9289	10	0.33940	T	0.23	.	20.5753	0.99366	0.0:1.0:0.0:0.0	.	1866	B7WPF4	.	N	2026;1866	ENSP00000294383:D2026N;ENSP00000385700:D1866N	ENSP00000294383:D2026N	D	-	1	0	USP24	55333643	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.461000	0.80834	2.868000	0.98415	0.557000	0.71058	GAT		0.388	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			4	39	0	0	0	0	4	39				
PDE4B	5142	broad.mit.edu	37	1	66827446	66827446	+	Silent	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:66827446C>G	ENST00000329654.4	+	10	1177	c.990C>G	c.(988-990)gtC>gtG	p.V330V	PDE4B_ENST00000423207.2_Silent_p.V315V|PDE4B_ENST00000480109.2_Silent_p.V97V|PDE4B_ENST00000371049.3_Silent_p.V330V|PDE4B_ENST00000371045.5_Silent_p.V158V	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	330					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	GCTTTGGAGTCAACACTGAAA	0.418																																						uc001dcn.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(988-990)GTC>GTG		phosphodiesterase 4B isoform 1	Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)						143.0	119.0	127.0					1																	66827446		2203	4300	6503	SO:0001819	synonymous_variant	5142				signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr1:66827446C>G	L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"""Phosphodiesterases"""	8781	protein-coding gene	gene with protein product	"""phosphodiesterase E4 dunce homolog (Drosophila)"""	600127	"""phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)"", ""phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"""	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.990C>G	1.37:g.66827446C>G						PDE4B_uc009war.2_Silent_p.V238V|PDE4B_uc001dco.2_Silent_p.V330V|PDE4B_uc001dcp.2_Silent_p.V315V|PDE4B_uc001dcq.2_Silent_p.V158V|PDE4B_uc009was.2_Silent_p.V97V	p.V330V	NM_001037341	NP_001032418	Q07343	PDE4B_HUMAN			10	1181	+			330					A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Silent	SNP	ENST00000329654.4	37	c.990C>G	CCDS632.1																																																																																				0.418	PDE4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025188.3	NM_002600		7	84	0	0	0	0	7	84				
SH3GLB1	51100	broad.mit.edu	37	1	87200333	87200333	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:87200333G>A	ENST00000370558.4	+	6	943	c.619G>A	c.(619-621)Gag>Aag	p.E207K	SH3GLB1_ENST00000482504.1_Missense_Mutation_p.E228K|SH3GLB1_ENST00000535010.1_Missense_Mutation_p.E107K	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	Q9Y371	SHLB1_HUMAN	SH3-domain GRB2-like endophilin B1	207	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				'de novo' posttranslational protein folding (GO:0051084)|apoptotic process (GO:0006915)|phosphatidic acid biosynthetic process (GO:0006654)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|protein complex (GO:0043234)	fatty acid binding (GO:0005504)|identical protein binding (GO:0042802)|lysophosphatidic acid acyltransferase activity (GO:0042171)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		TCGTCAAGCAGAGATTACCAG	0.353																																						uc001dlw.2		NA																	0					0						c.(619-621)GAG>AAG		SH3-containing protein SH3GLB1							62.0	63.0	63.0					1																	87200333		2203	4300	6503	SO:0001583	missense	51100				anti-apoptosis|filopodium assembly|signal transduction	Golgi membrane|mitochondrial outer membrane	cytoskeletal adaptor activity|protein homodimerization activity|SH3 domain binding	g.chr1:87200333G>A	AF263293	CCDS710.1, CCDS55612.1, CCDS55613.1, CCDS72819.1	1p22.3	2012-04-17	2001-12-04		ENSG00000097033	ENSG00000097033		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	10833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 70"""	609287	"""SH3-domain, GRB2-like, endophilin B1"""			11161816, 11259440	Standard	NM_016009		Approved	CGI-61, KIAA0491, Bif-1, PPP1R70	uc001dly.3	Q9Y371	OTTHUMG00000010257	ENST00000370558.4:c.619G>A	1.37:g.87200333G>A	ENSP00000473267:p.Glu207Lys					SH3GLB1_uc001dlx.2_Missense_Mutation_p.E228K|SH3GLB1_uc001dly.2_Missense_Mutation_p.E236K|SH3GLB1_uc001dlz.2_Missense_Mutation_p.E107K	p.E207K	NM_016009	NP_057093	Q9Y371	SHLB1_HUMAN		all cancers(265;0.0136)|Epithelial(280;0.0414)	6	945	+		Lung NSC(277;0.209)	207			BAR.		B4E182|Q5H8U5|Q9H3Z0|Q9NR47|Q9NYA9	Missense_Mutation	SNP	ENST00000370558.4	37	c.619G>A	CCDS710.1	.	.	.	.	.	.	.	.	.	.	G	32	5.148403	0.94603	.	.	ENSG00000097033	ENST00000212369;ENST00000535010;ENST00000482504	T;T	0.67345	-0.26;-0.26	5.21	5.21	0.72293	BAR (3);IRSp53/MIM homology domain (IMD) (1);	0.000000	0.85682	D	0.000000	T	0.79417	0.4442	M	0.73598	2.24	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.83275	0.996;0.995;0.98	T	0.81252	-0.1017	10	0.62326	D	0.03	-1.021	18.754	0.91825	0.0:0.0:1.0:0.0	.	107;228;207	B4E182;Q9Y371-2;Q9Y371	.;.;SHLB1_HUMAN	K	207;107;228	ENSP00000441355:E107K;ENSP00000418744:E228K	ENSP00000212369:E207K	E	+	1	0	SH3GLB1	86972921	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.357000	0.97099	2.433000	0.82419	0.655000	0.94253	GAG		0.353	SH3GLB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028287.2	NM_016009		7	74	0	0	0	0	7	74				
ATXN7L2	127002	broad.mit.edu	37	1	110030321	110030321	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:110030321G>A	ENST00000369870.3	+	5	610	c.595G>A	c.(595-597)Gag>Aag	p.E199K		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	199										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		AGAGAACATCGAGATCATCCC	0.597																																						uc001dxr.2		NA																	0				ovary(2)	2						c.(595-597)GAG>AAG		ataxin 7-like 2							65.0	68.0	67.0					1																	110030321		2203	4300	6503	SO:0001583	missense	127002							g.chr1:110030321G>A	BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.595G>A	1.37:g.110030321G>A	ENSP00000358886:p.Glu199Lys					ATXN7L2_uc001dxs.2_5'Flank	p.E199K	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)	5	610	+		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)	199						Missense_Mutation	SNP	ENST00000369870.3	37	c.595G>A	CCDS30794.1	.	.	.	.	.	.	.	.	.	.	G	8.135	0.783845	0.16189	.	.	ENSG00000162650	ENST00000369870;ENST00000541125	T	0.35973	1.28	5.82	4.91	0.64330	.	0.414552	0.23211	N	0.050662	T	0.05823	0.0152	N	0.08118	0	0.20074	N	0.999938	B	0.10296	0.003	B	0.04013	0.001	T	0.32107	-0.9919	10	0.15499	T	0.54	-13.9524	7.7838	0.29080	0.0818:0.0:0.7577:0.1605	.	199	Q5T6C5	AT7L2_HUMAN	K	199	ENSP00000358886:E199K	ENSP00000358886:E199K	E	+	1	0	ATXN7L2	109831844	0.585000	0.26774	0.651000	0.29564	0.934000	0.57294	2.797000	0.47877	1.469000	0.48083	0.655000	0.94253	GAG		0.597	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030331.1	NM_153340		21	182	0	0	0	0	21	182				
EPS8L3	79574	broad.mit.edu	37	1	110301152	110301152	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:110301152C>T	ENST00000361965.4	-	7	701	c.595G>A	c.(595-597)Gag>Aag	p.E199K	EPS8L3_ENST00000494151.1_5'UTR|EPS8L3_ENST00000361852.4_Missense_Mutation_p.E199K|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000369805.3_Missense_Mutation_p.E200K	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	199	Pro-rich.					cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		TTACTGTGCTCTAGGGTCCTC	0.577																																						uc001dyr.1		NA																	0				ovary(2)|skin(1)	3						c.(595-597)GAG>AAG		epidermal growth factor receptor pathway							73.0	67.0	69.0					1																	110301152		2203	4300	6503	SO:0001583	missense	79574					cytoplasm	protein binding	g.chr1:110301152C>T	AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.595G>A	1.37:g.110301152C>T	ENSP00000355255:p.Glu199Lys					EPS8L3_uc001dys.1_Missense_Mutation_p.E199K|EPS8L3_uc001dyq.1_Missense_Mutation_p.E200K|EPS8L3_uc009wfm.1_Missense_Mutation_p.E166K|EPS8L3_uc009wfn.1_Missense_Mutation_p.E166K|EPS8L3_uc009wfo.1_Missense_Mutation_p.E146K	p.E199K	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)	7	740	-		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)	199			Pro-rich.		A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Missense_Mutation	SNP	ENST00000361965.4	37	c.595G>A	CCDS814.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.438287	0.83885	.	.	ENSG00000198758	ENST00000361852;ENST00000369805;ENST00000361965	T;T;T	0.60920	2.51;0.16;0.15	5.13	5.13	0.70059	.	2.739850	0.01035	N	0.004200	T	0.49898	0.1584	M	0.72118	2.19	0.36311	D	0.857622	B;B;B;P	0.39759	0.126;0.1;0.06;0.687	B;B;B;B	0.39503	0.045;0.067;0.03;0.301	T	0.49360	-0.8948	10	0.23302	T	0.38	-27.6985	14.4465	0.67352	0.0:1.0:0.0:0.0	.	199;199;199;200	A8K2J6;Q8TE67-2;Q8TE67;Q8TE67-3	.;.;ES8L3_HUMAN;.	K	199;200;199	ENSP00000354551:E199K;ENSP00000358820:E200K;ENSP00000355255:E199K	ENSP00000354551:E199K	E	-	1	0	EPS8L3	110102675	0.165000	0.22948	0.605000	0.28930	0.587000	0.36485	1.610000	0.36869	2.552000	0.86080	0.561000	0.74099	GAG		0.577	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032234.1	NM_024526		12	144	0	0	0	0	12	144				
KCNC4	3749	broad.mit.edu	37	1	110765834	110765834	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:110765834C>T	ENST00000369787.3	+	2	954	c.927C>T	c.(925-927)ttC>ttT	p.F309F	KCNC4_ENST00000438661.2_Silent_p.F309F|KCNC4_ENST00000413138.3_Silent_p.F309F|KCNC4_ENST00000412512.2_Intron	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	309					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		CGCTGGACTTCGTCAAGAACC	0.607																																						uc001dzh.2		NA																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(925-927)TTC>TTT		Shaw-related voltage-gated potassium channel							238.0	182.0	201.0					1																	110765834		2203	4300	6503	SO:0001819	synonymous_variant	3749				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr1:110765834C>T	BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6236	protein-coding gene	gene with protein product		176265	"""chromosome 1 open reading frame 30"""	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.927C>T	1.37:g.110765834C>T						KCNC4_uc001dzf.2_Silent_p.F309F|KCNC4_uc009wfr.2_Silent_p.F309F|KCNC4_uc001dzg.2_Silent_p.F309F|KCNC4_uc001dzi.2_RNA	p.F309F	NM_004978	NP_004969	Q03721	KCNC4_HUMAN		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)	2	984	+		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	309			Cytoplasmic (Potential).		Q3MIM4|Q5TBI6	Silent	SNP	ENST00000369787.3	37	c.927C>T	CCDS821.1																																																																																				0.607	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2	NM_001039574		8	92	0	0	0	0	8	92				
KCNA3	3738	broad.mit.edu	37	1	111216030	111216030	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:111216030C>T	ENST00000369769.2	-	1	1625	c.1402G>A	c.(1402-1404)Ggt>Agt	p.G468S		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	468					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)	p.G468S(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	GTCAAGACACCGGCGATGGCA	0.527																																						uc001dzv.1		NA																	1	Substitution - Missense(1)	p.G468S(1)	ovary(1)	ovary(4)|pancreas(1)	5						c.(1402-1404)GGT>AGT		potassium voltage-gated channel, shaker-related							101.0	82.0	89.0					1																	111216030		2203	4300	6503	SO:0001583	missense	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111216030C>T	L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.1402G>A	1.37:g.111216030C>T	ENSP00000358784:p.Gly468Ser						p.G468S	NM_002232	NP_002223	P22001	KCNA3_HUMAN		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	1626	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	468			Helical; Name=Segment S6; (Potential).		Q5VWN2	Missense_Mutation	SNP	ENST00000369769.2	37	c.1402G>A	CCDS828.2	.	.	.	.	.	.	.	.	.	.	C	26.3	4.727560	0.89390	.	.	ENSG00000177272	ENST00000369769	D	0.98889	-5.21	5.91	5.91	0.95273	Ion transport (1);	0.000000	0.85682	U	0.000000	D	0.99432	0.9799	M	0.92691	3.335	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98920	1.0783	10	0.87932	D	0	.	20.2896	0.98541	0.0:1.0:0.0:0.0	.	468	P22001	KCNA3_HUMAN	S	468	ENSP00000358784:G468S	ENSP00000358784:G468S	G	-	1	0	KCNA3	111017553	1.000000	0.71417	0.830000	0.32933	0.995000	0.86356	7.814000	0.86154	2.794000	0.96219	0.655000	0.94253	GGT		0.527	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		9	98	0	0	0	0	9	98				
SPAG17	200162	broad.mit.edu	37	1	118530499	118530499	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:118530499G>A	ENST00000336338.5	-	40	5692	c.5627C>T	c.(5626-5628)aCa>aTa	p.T1876I		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1876						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TGAGGATGCTGTGTGTCTATG	0.388																																						uc001ehk.2		NA																	0				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(5626-5628)ACA>ATA		sperm associated antigen 17							162.0	147.0	152.0					1																	118530499		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118530499G>A		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.5627C>T	1.37:g.118530499G>A	ENSP00000337804:p.Thr1876Ile						p.T1876I	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	40	5695	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1876			Potential.		Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.5627C>T	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	7.286	0.610177	0.14066	.	.	ENSG00000155761	ENST00000336338;ENST00000437255	T	0.17854	2.25	4.33	0.0993	0.14502	.	1.131120	0.06432	N	0.724250	T	0.02929	0.0087	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.45101	-0.9284	10	0.26408	T	0.33	.	4.2447	0.10665	0.2957:0.1694:0.5349:0.0	.	1876	Q6Q759	SPG17_HUMAN	I	1876;356	ENSP00000337804:T1876I	ENSP00000337804:T1876I	T	-	2	0	SPAG17	118332022	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.061000	0.14366	-0.059000	0.13154	-0.136000	0.14681	ACA		0.388	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		5	75	0	0	0	0	5	75				
C1orf56	54964	broad.mit.edu	37	1	151020330	151020330	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:151020330C>A	ENST00000368926.5	+	1	115	c.7C>A	c.(7-9)Ccc>Acc	p.P3T		NM_017860.3	NP_060330.2	Q9BUN1	MENT_HUMAN	chromosome 1 open reading frame 56	3						cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCCCATGGTCCCCGCCGCCGG	0.711																																					GBM(146;891 3320 6873)	uc001ewn.2		NA																	0					0						c.(7-9)CCC>ACC		hypothetical protein LOC54964 precursor							6.0	8.0	7.0					1																	151020330		2016	4057	6073	SO:0001583	missense	54964					extracellular region		g.chr1:151020330C>A	BC002469	CCDS980.1	1q21.2	2013-09-20			ENSG00000143443	ENSG00000143443			26045	protein-coding gene	gene with protein product	"""methylated in normal thymocytes"""					12975309, 22133874	Standard	NM_017860		Approved	FLJ20519, MENT	uc001ewn.3	Q9BUN1	OTTHUMG00000035159	ENST00000368926.5:c.7C>A	1.37:g.151020330C>A	ENSP00000357922:p.Pro3Thr						p.P3T	NM_017860	NP_060330	Q9BUN1	CA056_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		1	72	+	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		3					B2RDU8|Q9NWZ4	Missense_Mutation	SNP	ENST00000368926.5	37	c.7C>A	CCDS980.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.793273	0.90453	.	.	ENSG00000143443	ENST00000368926;ENST00000433087	.	.	.	5.24	5.24	0.73138	.	0.000000	0.48767	D	0.000172	T	0.54078	0.1836	L	0.36672	1.1	0.32487	N	0.540761	D	0.89917	1.0	D	0.91635	0.999	T	0.57757	-0.7756	9	0.66056	D	0.02	-31.6027	14.1794	0.65564	0.0:1.0:0.0:0.0	.	3	Q9BUN1	CA056_HUMAN	T	3	.	ENSP00000357922:P3T	P	+	1	0	C1orf56	149286954	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.373000	0.34272	2.721000	0.93114	0.591000	0.81541	CCC		0.711	C1orf56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085101.1	NM_017860		4	28	1	0	2.56e-06	2.7e-06	4	28				
RUSC1	23623	broad.mit.edu	37	1	155290588	155290588	+	5'Flank	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:155290588C>G	ENST00000368352.5	+	0	0				RUSC1_ENST00000368354.3_5'Flank|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1						positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			ATCAAACCCTCTAGGTGGGTG	0.612																																						uc001fki.2		NA																	0					0						c.(691-693)AGA>ACA		hypothetical protein LOC284618							32.0	36.0	35.0					1																	155290588		1971	4152	6123	SO:0001631	upstream_gene_variant	284618							g.chr1:155290588C>G	AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910		1.37:g.155290588C>G	Exception_encountered					RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fkh.1_Intron|RUSC1_uc001fkj.2_5'Flank|RUSC1_uc001fkk.2_5'Flank|RUSC1_uc009wqn.1_5'Flank|RUSC1_uc009wqo.1_5'Flank	p.R231T	NM_001039517	NP_001034606	Q66K80	RUAS1_HUMAN	Epithelial(20;1.32e-10)|all cancers(21;3.51e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		2	969	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		231					B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Missense_Mutation	SNP	ENST00000368352.5	37	c.692G>C	CCDS41410.1																																																																																				0.612	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039071.1			5	52	0	0	0	0	5	52				
GON4L	54856	broad.mit.edu	37	1	155735586	155735586	+	Silent	SNP	G	G	A	rs200033678		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:155735586G>A	ENST00000368331.1	-	21	3726	c.3678C>T	c.(3676-3678)caC>caT	p.H1226H	GON4L_ENST00000361040.5_Silent_p.H1226H|GON4L_ENST00000437809.1_Silent_p.H1226H|GON4L_ENST00000271883.5_Silent_p.H1226H|GON4L_ENST00000471341.1_5'UTR	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1226					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CCACATTCACGTGGGCCTTAT	0.493													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21767	0.0		0.0	False		,,,				2504	0.0					uc001flz.2		NA																	0				ovary(3)	3						c.(3676-3678)CAC>CAT		gon-4-like isoform a							90.0	92.0	92.0					1																	155735586		2203	4300	6503	SO:0001819	synonymous_variant	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155735586G>A	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.3678C>T	1.37:g.155735586G>A						GON4L_uc009wrg.1_RNA|GON4L_uc001fly.1_Silent_p.H1226H|GON4L_uc009wrh.1_Silent_p.H1226H|GON4L_uc001fma.1_Silent_p.H1226H|GON4L_uc001fmb.3_Silent_p.H422H|GON4L_uc001fmc.2_Silent_p.H1226H|GON4L_uc001fmd.3_Silent_p.H1226H|GON4L_uc009wri.2_Silent_p.H812H	p.H1226H	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN			21	3775	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		1226					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Silent	SNP	ENST00000368331.1	37	c.3678C>T																																																																																					0.493	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		10	103	0	0	0	0	10	103				
BCAN	63827	broad.mit.edu	37	1	156617318	156617318	+	Missense_Mutation	SNP	G	G	A	rs372404921		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:156617318G>A	ENST00000329117.5	+	4	821	c.485G>A	c.(484-486)cGa>cAa	p.R162Q	BCAN_ENST00000361588.5_Missense_Mutation_p.R162Q|RP11-284F21.10_ENST00000605886.1_RNA|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	162	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTTCTCTACCGAGAGGGCTCT	0.652																																						uc001fpp.2		NA																	0				ovary(1)|pancreas(1)	2						c.(484-486)CGA>CAA		brevican isoform 1		G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	46.0	48.0	48.0		485,485	4.3	1.0	1		48	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	BCAN	NM_021948.4,NM_198427.1	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	162/912,162/672	156617318	1,13005	2203	4300	6503	SO:0001583	missense	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156617318G>A	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.485G>A	1.37:g.156617318G>A	ENSP00000331210:p.Arg162Gln					BCAN_uc001fpo.2_Missense_Mutation_p.R162Q	p.R162Q	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN			4	821	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		162			Link 1.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	c.485G>A	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	G	32	5.186459	0.94885	0.0	1.16E-4	ENSG00000132692	ENST00000329117;ENST00000457777;ENST00000424639;ENST00000361588	T;T;T;T	0.10573	2.86;2.86;2.86;2.86	4.26	4.26	0.50523	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.000000	0.53938	D	0.000060	T	0.16727	0.0402	L	0.39898	1.24	0.58432	D	0.999998	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.01648	-1.1304	10	0.87932	D	0	-13.6486	15.4026	0.74852	0.0:0.0:1.0:0.0	.	162;162	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	Q	162;162;60;162	ENSP00000331210:R162Q;ENSP00000389898:R162Q;ENSP00000401709:R60Q;ENSP00000354925:R162Q	ENSP00000331210:R162Q	R	+	2	0	BCAN	154883942	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	9.555000	0.98123	2.187000	0.69744	0.442000	0.29010	CGA		0.652	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		10	86	0	0	0	0	10	86				
BCAN	63827	broad.mit.edu	37	1	156617836	156617836	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:156617836C>T	ENST00000329117.5	+	5	1039	c.703C>T	c.(703-705)Cgg>Tgg	p.R235W	BCAN_ENST00000361588.5_Missense_Mutation_p.R235W|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	235	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCCCGGGGTCCGGAACTATGG	0.517																																						uc001fpp.2		NA																	0				ovary(1)|pancreas(1)	2						c.(703-705)CGG>TGG		brevican isoform 1							139.0	132.0	135.0					1																	156617836		2203	4300	6503	SO:0001583	missense	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156617836C>T	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.703C>T	1.37:g.156617836C>T	ENSP00000331210:p.Arg235Trp					BCAN_uc001fpo.2_Missense_Mutation_p.R235W	p.R235W	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN			5	1039	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		235			Link 1.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	c.703C>T	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.610200	0.66558	.	.	ENSG00000132692	ENST00000255029;ENST00000329117;ENST00000424639;ENST00000361588	T;T;T	0.10960	2.82;2.82;2.82	3.9	3.9	0.45041	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.000000	0.52532	D	0.000075	T	0.28200	0.0696	M	0.90977	3.165	0.49051	D	0.999749	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.11567	-1.0582	10	0.87932	D	0	-17.5131	8.9741	0.35924	0.3441:0.6559:0.0:0.0	.	235;235	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	W	176;235;133;235	ENSP00000331210:R235W;ENSP00000401709:R133W;ENSP00000354925:R235W	ENSP00000255029:R176W	R	+	1	2	BCAN	154884460	0.183000	0.23186	1.000000	0.80357	0.981000	0.71138	0.739000	0.26173	2.005000	0.58758	0.555000	0.69702	CGG		0.517	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		20	191	0	0	0	0	20	191				
ARHGEF11	9826	broad.mit.edu	37	1	156914199	156914199	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:156914199C>T	ENST00000361409.2	-	30	3640	c.2898G>A	c.(2896-2898)atG>atA	p.M966I	ARHGEF11_ENST00000368194.3_Missense_Mutation_p.M1006I|ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.M382I	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	966	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCTCATGGATCATTTTTCTGG	0.493																																						uc001fqo.2		NA																	0				ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9						c.(2896-2898)ATG>ATA		Rho guanine nucleotide exchange factor (GEF) 11							130.0	125.0	127.0					1																	156914199		2203	4300	6503	SO:0001583	missense	9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:156914199C>T	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.2898G>A	1.37:g.156914199C>T	ENSP00000354644:p.Met966Ile					ARHGEF11_uc010phu.1_Missense_Mutation_p.M382I|ARHGEF11_uc001fqn.2_Missense_Mutation_p.M1006I	p.M966I	NM_014784	NP_055599	O15085	ARHGB_HUMAN			30	3938	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		966			PH.		D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	ENST00000361409.2	37	c.2898G>A	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.253644	0.80135	.	.	ENSG00000132694	ENST00000368194;ENST00000361409;ENST00000315174	T;T;T	0.62232	0.04;0.04;0.04	5.13	5.13	0.70059	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.64402	D	0.000002	T	0.74711	0.3752	M	0.71581	2.175	0.80722	D	1	P;D;D	0.71674	0.931;0.998;0.987	P;D;D	0.70487	0.832;0.965;0.969	T	0.76971	-0.2761	10	0.72032	D	0.01	-26.4039	18.3554	0.90356	0.0:1.0:0.0:0.0	.	382;966;1006	F8W8P9;O15085;O15085-2	.;ARHGB_HUMAN;.	I	1006;966;382	ENSP00000357177:M1006I;ENSP00000354644:M966I;ENSP00000313470:M382I	ENSP00000313470:M382I	M	-	3	0	ARHGEF11	155180823	1.000000	0.71417	1.000000	0.80357	0.427000	0.31564	7.556000	0.82233	2.659000	0.90383	0.561000	0.74099	ATG		0.493	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		11	118	0	0	0	0	11	118				
KCNJ10	3766	broad.mit.edu	37	1	160012273	160012273	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:160012273C>T	ENST00000368089.3	-	2	276	c.50G>A	c.(49-51)aGc>aAc	p.S17N	KCNJ10_ENST00000509700.1_5'Flank	NM_002241.4	NP_002232.2	P78508	KCJ10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	17					adult walking behavior (GO:0007628)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|membrane hyperpolarization (GO:0060081)|optic nerve development (GO:0021554)|potassium ion homeostasis (GO:0055075)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of resting membrane potential (GO:0060075)|regulation of sensory perception of pain (GO:0051930)|response to blue light (GO:0009637)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)		Yohimbine(DB01392)	TAGGGGCCGGCTTTCTGTCTG	0.537																																					GBM(167;1368 2014 14817 36425 43215)	uc001fuw.1		NA																	0				ovary(1)	1						c.(49-51)AGC>AAC		potassium inwardly-rectifying channel, subfamily							75.0	69.0	71.0					1																	160012273		2203	4300	6503	SO:0001583	missense	3766					integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity	g.chr1:160012273C>T	U52155	CCDS1193.1	1q23.2	2011-07-05			ENSG00000177807	ENSG00000177807		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6256	protein-coding gene	gene with protein product		602208				9367690, 8995301, 16382105	Standard	NM_002241		Approved	Kir4.1, Kir1.2	uc001fuw.2	P78508	OTTHUMG00000024073	ENST00000368089.3:c.50G>A	1.37:g.160012273C>T	ENSP00000357068:p.Ser17Asn						p.S17N	NM_002241	NP_002232	P78508	IRK10_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	200	-	all_hematologic(112;0.093)		17			Cytoplasmic (By similarity).		A3KME7|Q5VUT9|Q8N4I7|Q92808	Missense_Mutation	SNP	ENST00000368089.3	37	c.50G>A	CCDS1193.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.026772	0.35797	.	.	ENSG00000177807	ENST00000368089	D	0.88354	-2.37	5.17	4.25	0.50352	.	0.806182	0.11769	N	0.531333	T	0.65291	0.2677	N	0.08118	0	0.38274	D	0.942237	B	0.33694	0.421	B	0.26864	0.074	T	0.61768	-0.6995	10	0.32370	T	0.25	.	13.512	0.61517	0.0:0.8421:0.1579:0.0	.	17	P78508	IRK10_HUMAN	N	17	ENSP00000357068:S17N	ENSP00000357068:S17N	S	-	2	0	KCNJ10	158278897	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.391000	0.52530	1.399000	0.46721	0.591000	0.81541	AGC		0.537	KCNJ10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060629.1	NM_002241		7	106	0	0	0	0	7	106				
KCNJ9	3765	broad.mit.edu	37	1	160053931	160053931	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:160053931C>T	ENST00000368088.3	+	2	353	c.111C>T	c.(109-111)aaC>aaT	p.N37N		NM_004983.2	NP_004974.2	Q92806	KCNJ9_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 9	37					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGCAGGGCAACGTGCGCGAGA	0.687																																						uc001fuy.1		NA																	0				ovary(1)|skin(1)	2						c.(109-111)AAC>AAT		potassium inwardly-rectifying channel subfamily							66.0	42.0	50.0					1																	160053931		2203	4295	6498	SO:0001819	synonymous_variant	3765				synaptic transmission	integral to membrane|plasma membrane	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr1:160053931C>T	U52152	CCDS1194.1	1q23.2	2011-07-05			ENSG00000162728	ENSG00000162728		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6270	protein-coding gene	gene with protein product		600932				8575783, 16382105	Standard	NM_004983		Approved	Kir3.3, GIRK3	uc001fuy.1	Q92806	OTTHUMG00000024072	ENST00000368088.3:c.111C>T	1.37:g.160053931C>T							p.N37N	NM_004983	NP_004974	Q92806	IRK9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	353	+	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		37			Cytoplasmic (By similarity).		Q5JW75	Silent	SNP	ENST00000368088.3	37	c.111C>T	CCDS1194.1																																																																																				0.687	KCNJ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060628.1	NM_004983		3	8	0	0	0	0	3	8				
USF1	7391	broad.mit.edu	37	1	161012411	161012411	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:161012411G>C	ENST00000368021.3	-	4	312	c.108C>G	c.(106-108)atC>atG	p.I36M	USF1_ENST00000435396.1_De_novo_Start_OutOfFrame|USF1_ENST00000368019.1_Missense_Mutation_p.I36M|USF1_ENST00000368020.1_Missense_Mutation_p.I36M	NM_007122.3	NP_009053.1	P22415	USF1_HUMAN	upstream transcription factor 1	36					carbon catabolite regulation of transcription (GO:0045990)|cellular response to insulin stimulus (GO:0032869)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|late viral transcription (GO:0019086)|lipid homeostasis (GO:0055088)|negative regulation of fibrinolysis (GO:0051918)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter by glucose (GO:0000430)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CAGCTGACTGGATGCTGGCAA	0.537																																						uc001fxi.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(106-108)ATC>ATG		upstream stimulatory factor 1 isoform 1							58.0	56.0	57.0					1																	161012411		2203	4300	6503	SO:0001583	missense	7391				cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr1:161012411G>C	BC035505	CCDS1214.1	1q22-q23	2013-05-21			ENSG00000158773	ENSG00000158773		"""Basic helix-loop-helix proteins"""	12593	protein-coding gene	gene with protein product		191523				8486371	Standard	NM_007122		Approved	UEF, MLTFI, bHLHb11	uc031pqv.1	P22415	OTTHUMG00000031472	ENST00000368021.3:c.108C>G	1.37:g.161012411G>C	ENSP00000357000:p.Ile36Met					USF1_uc001fxj.2_Translation_Start_Site	p.I36M	NM_007122	NP_009053	P22415	USF1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00122)		4	303	-	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		36					B2RBZ4|Q5SY46|Q7Z5Y1	Missense_Mutation	SNP	ENST00000368021.3	37	c.108C>G	CCDS1214.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.233943	0.39498	.	.	ENSG00000158773	ENST00000368020;ENST00000368021;ENST00000368019;ENST00000531842	D;D;D;D	0.94897	-3.5;-3.5;-3.55;-3.06	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.95500	0.8538	L	0.59436	1.845	0.80722	D	1	D	0.59357	0.985	D	0.64237	0.923	D	0.95612	0.8673	10	0.62326	D	0.03	-13.3927	15.7059	0.77580	0.0:0.0:1.0:0.0	.	36	P22415	USF1_HUMAN	M	36	ENSP00000356999:I36M;ENSP00000357000:I36M;ENSP00000356998:I36M;ENSP00000435005:I36M	ENSP00000356998:I36M	I	-	3	3	USF1	159279035	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.848000	0.39309	2.557000	0.86248	0.655000	0.94253	ATC		0.537	USF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077050.1	NM_007122		4	49	0	0	0	0	4	49				
FCGR2B	2213	broad.mit.edu	37	1	161647336	161647336	+	Missense_Mutation	SNP	G	G	A	rs373810561		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:161647336G>A	ENST00000358671.5	+	8	1007	c.926G>A	c.(925-927)cGt>cAt	p.R309H	FCGR2B_ENST00000236937.9_Missense_Mutation_p.R290H|FCGR2B_ENST00000367961.4_Missense_Mutation_p.R302H|RP11-25K21.1_ENST00000453111.1_RNA|FCGR2B_ENST00000367960.5_Missense_Mutation_p.R302H|FCGR2B_ENST00000367962.4_Missense_Mutation_p.R309H|FCGR2B_ENST00000403078.3_Missense_Mutation_p.R290H	NM_001002275.2|NM_004001.4	NP_001002275.1|NP_003992.3	P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)	309					immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)						all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Antithymocyte globulin(DB00098)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GACCAGAACCGTATTTAGTCT	0.478			T	?	ALL																																	uc001gaz.1		NA		Dom	yes		1	1q23	2213	T	"""Fc fragment of IgG, low affinity IIb, receptor for (CD32)"""			L	?		ALL		0					0						c.(925-927)CGT>CAT		Fc fragment of IgG, low affinity IIb, receptor	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	135.0	133.0	134.0		866,869,923,905,926	-9.1	0.0	1		134	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	FCGR2B	NM_001002273.2,NM_001002274.2,NM_001002275.2,NM_001190828.1,NM_004001.4	29,29,29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign,benign	289/291,290/292,308/310,302/304,309/311	161647336	1,13005	2203	4300	6503	SO:0001583	missense	2213				immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161647336G>A	BC031992	CCDS30924.1, CCDS30925.1, CCDS53414.1	1q23	2013-01-11	2005-02-02		ENSG00000072694	ENSG00000072694		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3618	protein-coding gene	gene with protein product		604590	"""Fc fragment of IgG, low affinity IIb, receptor for (CD32)"""	FCG2, FCGR2		2139735	Standard	NM_004001		Approved	CD32, CD32B	uc001gaz.2	P31994	OTTHUMG00000034470	ENST00000358671.5:c.926G>A	1.37:g.161647336G>A	ENSP00000351497:p.Arg309His					FCGR2B_uc001gay.1_Missense_Mutation_p.R308H|FCGR2B_uc001gba.1_Missense_Mutation_p.R289H|FCGR2B_uc001gbb.1_Missense_Mutation_p.R290H|FCGR2B_uc009wun.1_Missense_Mutation_p.R302H	p.R309H	NM_004001	NP_003992	P31994	FCG2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		8	1018	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		309			Cytoplasmic (Potential).		A6H8N3|O95649|Q53X85|Q5VXA9|Q8NIA1	Missense_Mutation	SNP	ENST00000358671.5	37	c.926G>A	CCDS30924.1	.	.	.	.	.	.	.	.	.	.	G	8.050	0.765835	0.15983	2.27E-4	0.0	ENSG00000072694	ENST00000367962;ENST00000367960;ENST00000403078;ENST00000236937;ENST00000367961;ENST00000358671	T;T;T;T;T;T	0.32515	4.56;1.45;4.36;4.36;1.45;4.56	4.63	-9.08	0.00720	.	3.588820	0.00953	N	0.002986	T	0.04227	0.0117	N	0.24115	0.695	0.09310	N	1	B;B;P	0.34412	0.064;0.357;0.453	B;B;B	0.26969	0.011;0.075;0.05	T	0.18023	-1.0350	10	0.02654	T	1	.	14.8188	0.70055	0.8158:0.0:0.1842:0.0	.	302;290;309	P31994-3;P31994-2;P31994	.;.;FCG2B_HUMAN	H	309;302;290;290;302;309	ENSP00000356939:R309H;ENSP00000356937:R302H;ENSP00000386038:R290H;ENSP00000236937:R290H;ENSP00000356938:R302H;ENSP00000351497:R309H	ENSP00000236937:R290H	R	+	2	0	FCGR2B	159913960	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.707000	0.05041	-2.230000	0.00719	-0.768000	0.03414	CGT		0.478	FCGR2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000083337.4	NM_004001		9	199	0	0	0	0	9	199				
OLFML2B	25903	broad.mit.edu	37	1	161993108	161993108	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:161993108G>A	ENST00000294794.3	-	1	536	c.113C>T	c.(112-114)gCg>gTg	p.A38V	OLFML2B_ENST00000367940.2_Missense_Mutation_p.A38V	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	38					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CTCCGCAGGCGCCACTGTCTG	0.597																																						uc001gbu.2		NA																	0				skin(1)	1						c.(112-114)GCG>GTG		olfactomedin-like 2B precursor							124.0	107.0	113.0					1																	161993108		2203	4300	6503	SO:0001583	missense	25903							g.chr1:161993108G>A	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.113C>T	1.37:g.161993108G>A	ENSP00000294794:p.Ala38Val					OLFML2B_uc010pkq.1_Missense_Mutation_p.A38V	p.A38V	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		1	537	-	all_hematologic(112;0.156)		38					B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	37	c.113C>T	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.598491	0.46318	.	.	ENSG00000162745	ENST00000294794;ENST00000367940	D;D	0.87887	-2.31;-2.31	4.96	0.766	0.18476	.	.	.	.	.	T	0.61223	0.2330	L	0.29908	0.895	0.22591	N	0.998952	B;B	0.11235	0.004;0.004	B;B	0.04013	0.001;0.001	T	0.41431	-0.9509	8	0.66056	D	0.02	.	3.2636	0.06858	0.0858:0.1486:0.4595:0.3061	.	38;38	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	V	38	ENSP00000294794:A38V;ENSP00000356917:A38V	ENSP00000294794:A38V	A	-	2	0	OLFML2B	160259732	0.000000	0.05858	0.262000	0.24481	0.761000	0.43186	0.104000	0.15313	-0.012000	0.14223	0.561000	0.74099	GCG		0.597	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		9	81	0	0	0	0	9	81				
UCK2	7371	broad.mit.edu	37	1	165860506	165860506	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:165860506C>G	ENST00000367879.4	+	3	606	c.303C>G	c.(301-303)atC>atG	p.I101M	UCK2_ENST00000372212.4_Missense_Mutation_p.I101M	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	101					cellular response to oxygen levels (GO:0071453)|CTP salvage (GO:0044211)|feeding behavior (GO:0007631)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|response to axon injury (GO:0048678)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|nucleoside kinase activity (GO:0019206)|uridine kinase activity (GO:0004849)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					TCAAAGAAATCACTGAAGGGA	0.413																																						uc001gdp.2		NA																	0				ovary(1)	1						c.(301-303)ATC>ATG		uridine-cytidine kinase 2							122.0	119.0	120.0					1																	165860506		2203	4300	6503	SO:0001583	missense	7371				pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity	g.chr1:165860506C>G	AF236637	CCDS1252.1	1p32	2012-10-02	2004-07-13	2004-07-14	ENSG00000143179	ENSG00000143179	2.7.1.48		12562	protein-coding gene	gene with protein product		609329	"""uridine monophosphate kinase"""	UMPK			Standard	NM_012474		Approved		uc001gdp.3	Q9BZX2	OTTHUMG00000040117	ENST00000367879.4:c.303C>G	1.37:g.165860506C>G	ENSP00000356853:p.Ile101Met					UCK2_uc010plb.1_Nonsense_Mutation_p.S11*	p.I101M	NM_012474	NP_036606	Q9BZX2	UCK2_HUMAN			3	484	+	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)		101					Q5VV91|Q7KZV3|Q92528|Q96KG5|Q9BU42	Missense_Mutation	SNP	ENST00000367879.4	37	c.303C>G	CCDS1252.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.868241	0.51588	.	.	ENSG00000143179	ENST00000367879;ENST00000372212	.	.	.	5.22	1.21	0.21127	Phosphoribulokinase/uridine kinase (1);	0.095716	0.64402	D	0.000001	T	0.44829	0.1312	L	0.57536	1.79	0.53688	D	0.999976	P	0.45212	0.853	P	0.54140	0.743	T	0.47636	-0.9102	8	0.62326	D	0.03	-35.0443	9.111	0.36727	0.0:0.6656:0.0:0.3344	.	101	Q9BZX2	UCK2_HUMAN	M	101	.	ENSP00000356853:I101M	I	+	3	3	UCK2	164127130	0.999000	0.42202	0.902000	0.35471	0.953000	0.61014	1.975000	0.40569	0.305000	0.22832	-0.142000	0.14014	ATC		0.413	UCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096753.1	NM_012474		6	62	0	0	0	0	6	62				
ADCY10	55811	broad.mit.edu	37	1	167817662	167817662	+	Missense_Mutation	SNP	C	C	G	rs538978433		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:167817662C>G	ENST00000367851.4	-	19	2558	c.2374G>C	c.(2374-2376)Gaa>Caa	p.E792Q	ADCY10_ENST00000545172.1_Missense_Mutation_p.E639Q|ADCY10_ENST00000367848.1_Missense_Mutation_p.E700Q	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	792					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TGACAGACTTCTTCACTTTCC	0.438																																						uc001ger.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(2374-2376)GAA>CAA		adenylate cyclase 10							111.0	106.0	108.0					1																	167817662		2203	4300	6503	SO:0001583	missense	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167817662C>G	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.2374G>C	1.37:g.167817662C>G	ENSP00000356825:p.Glu792Gln					ADCY10_uc009wvk.2_Missense_Mutation_p.E700Q|ADCY10_uc010plj.1_Missense_Mutation_p.E639Q|ADCY10_uc009wvl.2_Missense_Mutation_p.E791Q	p.E792Q	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN			19	2672	-			792					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	c.2374G>C	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	C	3.796	-0.042675	0.07452	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.32023	1.47;1.47;1.47	5.31	4.4	0.53042	.	0.519163	0.19250	N	0.118956	T	0.13415	0.0325	L	0.57536	1.79	0.24944	N	0.991839	B;B;B	0.20052	0.041;0.041;0.024	B;B;B	0.20955	0.032;0.032;0.014	T	0.07927	-1.0747	9	0.20519	T	0.43	-10.278	10.162	0.42858	0.0:0.9071:0.0:0.0929	.	639;700;792	F5GWS5;Q96PN6-2;Q96PN6	.;.;ADCYA_HUMAN	Q	639;792;700	ENSP00000441992:E639Q;ENSP00000356825:E792Q;ENSP00000356822:E700Q	ENSP00000356822:E700Q	E	-	1	0	ADCY10	166084286	0.080000	0.21391	0.561000	0.28357	0.002000	0.02628	0.926000	0.28804	1.244000	0.43870	-0.448000	0.05591	GAA		0.438	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		9	168	0	0	0	0	9	168				
DNM3	26052	broad.mit.edu	37	1	172011177	172011177	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:172011177G>C	ENST00000355305.5	+	8	1178	c.1021G>C	c.(1021-1023)Gag>Cag	p.E341Q	DNM3_ENST00000520906.1_Missense_Mutation_p.E341Q|DNM3_ENST00000367733.2_Missense_Mutation_p.E341Q|DNM3_ENST00000367731.1_Missense_Mutation_p.E341Q|DNM3_ENST00000358155.4_Missense_Mutation_p.E341Q			Q9UQ16	DYN3_HUMAN	dynamin 3	341					endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TGTGGACTTTGAGAAGAGAAT	0.378																																						uc001gie.2		NA																	0				breast(1)	1						c.(1021-1023)GAG>CAG		dynamin 3 isoform a							145.0	141.0	142.0					1																	172011177		1835	4083	5918	SO:0001583	missense	26052				endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding	g.chr1:172011177G>C	AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"""Pleckstrin homology (PH) domain containing"""	29125	protein-coding gene	gene with protein product	"""Dyna III"""	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.1021G>C	1.37:g.172011177G>C	ENSP00000347457:p.Glu341Gln					DNM3_uc001gid.3_Missense_Mutation_p.E341Q|DNM3_uc009wwb.2_Missense_Mutation_p.E341Q|DNM3_uc001gif.2_Missense_Mutation_p.E341Q	p.E341Q	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN			8	1197	+			341					A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Missense_Mutation	SNP	ENST00000355305.5	37	c.1021G>C		.	.	.	.	.	.	.	.	.	.	G	24.3	4.517111	0.85495	.	.	ENSG00000197959	ENST00000359070;ENST00000358155;ENST00000367733;ENST00000355305;ENST00000367731;ENST00000520906;ENST00000523513	T;T;T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76;-0.76;-0.76	5.65	5.65	0.86999	.	0.103853	0.64402	D	0.000005	T	0.57844	0.2081	L	0.49640	1.575	0.80722	D	1	B;B;B;B	0.32365	0.018;0.367;0.109;0.016	B;B;B;B	0.29077	0.098;0.059;0.059;0.042	T	0.58589	-0.7610	10	0.22109	T	0.4	.	18.2887	0.90122	0.0:0.0:1.0:0.0	.	341;341;341;341	E5RHK8;Q9UQ16-2;Q9UQ16-3;Q6P2G1	.;.;.;.	Q	341;341;341;341;341;341;231	ENSP00000350876:E341Q;ENSP00000356707:E341Q;ENSP00000347457:E341Q;ENSP00000356705:E341Q;ENSP00000429701:E341Q;ENSP00000429416:E231Q	ENSP00000347457:E341Q	E	+	1	0	DNM3	170277800	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.669000	0.90835	0.491000	0.48974	GAG		0.378	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000084531.1	NM_015569		14	147	0	0	0	0	14	147				
RASAL2	9462	broad.mit.edu	37	1	178414790	178414790	+	Silent	SNP	C	C	T	rs370544500		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:178414790C>T	ENST00000462775.1	+	7	1301	c.1176C>T	c.(1174-1176)gaC>gaT	p.D392D	RASAL2_ENST00000448150.3_Silent_p.D522D|RASAL2_ENST00000367649.3_Silent_p.D540D	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	392	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						ATCTTCATGACGCACTGGGTA	0.388																																						uc001glr.2		NA																	0				ovary(2)|breast(2)|large_intestine(1)	5						c.(1174-1176)GAC>GAT		RAS protein activator like 2 isoform 1		T	,	1,4405		0,1,2202	99.0	82.0	88.0		1176,1620	-2.5	1.0	1		88	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	RASAL2	NM_004841.3,NM_170692.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	392/1140,540/1281	178414790	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178414790C>T	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.1176C>T	1.37:g.178414790C>T						RASAL2_uc001glq.2_Silent_p.D540D	p.D392D	NM_004841	NP_004832	Q9UJF2	NGAP_HUMAN			7	1301	+			392			Ras-GAP.		F8W755|O95174|Q2TB22|Q5TFU9	Silent	SNP	ENST00000462775.1	37	c.1176C>T	CCDS1322.1																																																																																				0.388	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		10	120	0	0	0	0	10	120				
KIAA1614	57710	broad.mit.edu	37	1	180885980	180885980	+	Silent	SNP	C	C	T	rs374668814		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:180885980C>T	ENST00000367588.4	+	2	796	c.741C>T	c.(739-741)ggC>ggT	p.G247G		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	247								p.G247G(2)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						TTCCAGATGGCGTGGTGACAG	0.587																																						uc001gok.2		NA																	2	Substitution - coding silent(2)		prostate(1)|endometrium(1)	ovary(3)|skin(1)	4						c.(739-741)GGC>GGT		hypothetical protein LOC57710		C		0,4142		0,0,2071	166.0	179.0	174.0		741	-1.6	0.0	1		174	1,8403		0,1,4201	no	coding-synonymous	KIAA1614	NM_020950.1		0,1,6272	TT,TC,CC		0.0119,0.0,0.0080		247/1191	180885980	1,12545	2071	4202	6273	SO:0001819	synonymous_variant	57710							g.chr1:180885980C>T	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.741C>T	1.37:g.180885980C>T							p.G247G	NM_020950	NP_066001	Q5VZ46	K1614_HUMAN			2	808	+			247					Q5VZ45|Q9HCF8	Silent	SNP	ENST00000367588.4	37	c.741C>T	CCDS41442.1																																																																																				0.587	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		26	323	0	0	0	0	26	323				
CACNA1E	777	broad.mit.edu	37	1	181689432	181689432	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:181689432C>G	ENST00000367573.2	+	14	1842	c.1842C>G	c.(1840-1842)atC>atG	p.I614M	CACNA1E_ENST00000360108.3_Missense_Mutation_p.I614M|CACNA1E_ENST00000357570.5_Missense_Mutation_p.I565M|CACNA1E_ENST00000526775.1_Missense_Mutation_p.I614M|CACNA1E_ENST00000367567.4_Missense_Mutation_p.I221M|CACNA1E_ENST00000367570.1_Missense_Mutation_p.I614M|CACNA1E_ENST00000358338.5_Missense_Mutation_p.I565M	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	614					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCCTCTTCATCGTTGTCTTTG	0.468																																						uc001gow.2		NA																	0				ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(1840-1842)ATC>ATG		calcium channel, voltage-dependent, R type,							185.0	164.0	171.0					1																	181689432		1990	4156	6146	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181689432C>G	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.1842C>G	1.37:g.181689432C>G	ENSP00000356545:p.Ile614Met					CACNA1E_uc009wxs.2_Missense_Mutation_p.I521M	p.I614M	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			14	2007	+			614			Helical; Name=S5 of repeat II.|II.		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.1842C>G	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.199511	0.58126	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98493	-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96	5.15	-5.47	0.02600	.	0.046313	0.85682	D	0.000000	D	0.97328	0.9126	L	0.43554	1.36	0.40982	D	0.984789	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	D	0.94978	0.8123	10	0.62326	D	0.03	.	10.1782	0.42952	0.0978:0.2453:0.0:0.657	.	614;614	Q15878-2;Q15878-3	.;.	M	614;614;565;565;221;614;614	ENSP00000356542:I614M;ENSP00000434814:I614M;ENSP00000350183:I565M;ENSP00000351101:I565M;ENSP00000356539:I221M;ENSP00000353222:I614M;ENSP00000356545:I614M	ENSP00000350183:I565M	I	+	3	3	CACNA1E	179956055	0.000000	0.05858	0.905000	0.35620	0.955000	0.61496	-2.114000	0.01329	-1.034000	0.03295	-0.984000	0.02558	ATC		0.468	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		4	42	0	0	0	0	4	42				
SHCBP1L	81626	broad.mit.edu	37	1	182873548	182873548	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:182873548C>G	ENST00000367547.3	-	8	1590	c.1354G>C	c.(1354-1356)Gaa>Caa	p.E452Q	SHCBP1L_ENST00000423786.1_Missense_Mutation_p.E333Q|SHCBP1L_ENST00000488956.1_5'UTR	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	524										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						ATCATAATTTCCTCTCTCTTT	0.363																																						uc001gpu.2		NA																	0					0						c.(1354-1356)GAA>CAA		chromosome 1 open reading frame 14							88.0	93.0	91.0					1																	182873548		2203	4300	6503	SO:0001583	missense	81626							g.chr1:182873548C>G	AF288397	CCDS30955.1	1q25	2011-01-24	2011-01-24	2011-01-24	ENSG00000157060	ENSG00000157060			16788	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 14"""	C1orf14		11318611	Standard	NM_030933		Approved		uc001gpu.3	Q9BZQ2	OTTHUMG00000035419	ENST00000367547.3:c.1354G>C	1.37:g.182873548C>G	ENSP00000356518:p.Glu452Gln					C1orf14_uc001gpv.2_Missense_Mutation_p.E333Q|C1orf14_uc010pnz.1_Missense_Mutation_p.E310Q|C1orf14_uc001gpw.2_Missense_Mutation_p.E172Q	p.E452Q	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN		Colorectal(1306;1.64e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00267)	8	1639	-			524					Q4G195|Q9BZQ3|Q9H2B6	Missense_Mutation	SNP	ENST00000367547.3	37	c.1354G>C	CCDS30955.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.525050	0.64747	.	.	ENSG00000157060	ENST00000367547;ENST00000287709;ENST00000423786	T;T	0.43294	0.95;0.95	5.55	4.64	0.57946	Pectin lyase fold/virulence factor (1);Carbohydrate-binding/sugar hydrolysis domain (1);Pectin lyase fold (1);	0.100381	0.43919	D	0.000516	T	0.55705	0.1937	L	0.47716	1.5	0.33716	D	0.61638	D;D;D	0.89917	0.997;0.998;1.0	D;D;D	0.85130	0.986;0.957;0.997	T	0.68401	-0.5418	10	0.66056	D	0.02	-27.2615	11.487	0.50358	0.0:0.9161:0.0:0.0839	.	524;333;452	Q9BZQ2;Q9BZQ2-2;Q9BZQ2-3	SHP1L_HUMAN;.;.	Q	452;521;333	ENSP00000356518:E452Q;ENSP00000397308:E333Q	ENSP00000287709:E521Q	E	-	1	0	SHCBP1L	181140171	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	2.586000	0.46119	1.358000	0.45922	0.655000	0.94253	GAA		0.363	SHCBP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085956.1	NM_030933		8	131	0	0	0	0	8	131				
ASPM	259266	broad.mit.edu	37	1	197111586	197111586	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:197111586A>G	ENST00000367409.4	-	3	2052	c.1796T>C	c.(1795-1797)aTc>aCc	p.I599T	ASPM_ENST00000294732.7_Missense_Mutation_p.I599T	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	599					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GATTCTTTTGATTTCTCGCAC	0.398																																						uc001gtu.2		NA																	0				ovary(4)|central_nervous_system(2)	6						c.(1795-1797)ATC>ACC		asp (abnormal spindle)-like, microcephaly							205.0	217.0	212.0					1																	197111586		2203	4300	6503	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197111586A>G	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.1796T>C	1.37:g.197111586A>G	ENSP00000356379:p.Ile599Thr					ASPM_uc001gtv.2_Missense_Mutation_p.I599T|ASPM_uc001gtw.3_Intron	p.I599T	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			3	2053	-			599					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.1796T>C	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	A	1.742	-0.491555	0.04322	.	.	ENSG00000066279	ENST00000367409;ENST00000294732	T;T	0.55760	0.5;1.77	5.65	0.161	0.14977	.	1.292800	0.04949	N	0.459932	T	0.42675	0.1213	L	0.41710	1.295	0.09310	N	1	B;B	0.10296	0.003;0.0	B;B	0.06405	0.002;0.001	T	0.23797	-1.0178	10	0.28530	T	0.3	.	7.4869	0.27439	0.3587:0.4633:0.178:0.0	.	599;599	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	T	599	ENSP00000356379:I599T;ENSP00000294732:I599T	ENSP00000294732:I599T	I	-	2	0	ASPM	195378209	0.678000	0.27586	0.132000	0.22025	0.124000	0.20399	0.477000	0.22196	0.139000	0.18822	0.523000	0.50628	ATC		0.398	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		17	358	0	0	0	0	17	358				
CRB1	23418	broad.mit.edu	37	1	197390409	197390409	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:197390409C>T	ENST00000367400.3	+	6	1586	c.1451C>T	c.(1450-1452)aCc>aTc	p.T484I	CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000367399.2_Missense_Mutation_p.T372I|CRB1_ENST00000538660.1_Missense_Mutation_p.T484I|CRB1_ENST00000535699.1_Missense_Mutation_p.T415I|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000543483.1_Missense_Mutation_p.T183I	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	484					cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GAAATCGCAACCACACTTTCA	0.498																																						uc001gtz.2		NA																	0				ovary(5)|skin(3)|large_intestine(1)	9						c.(1450-1452)ACC>ATC		crumbs homolog 1 precursor							107.0	94.0	98.0					1																	197390409		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197390409C>T		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.1451C>T	1.37:g.197390409C>T	ENSP00000356370:p.Thr484Ile					CRB1_uc010poz.1_Missense_Mutation_p.T415I|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.T372I|CRB1_uc010ppb.1_Missense_Mutation_p.T484I|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_5'UTR|CRB1_uc001gub.1_Missense_Mutation_p.T133I	p.T484I	NM_201253	NP_957705	P82279	CRUM1_HUMAN			6	1586	+			484			Extracellular (Potential).		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.1451C>T	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.459284	0.63401	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000543483;ENST00000367401	D;D;D;D;D	0.90069	-2.31;-2.38;-2.12;-2.61;-2.34	5.82	5.82	0.92795	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	D	0.93818	0.8023	M	0.83012	2.62	0.80722	D	1	D;D;D;D;D	0.71674	0.998;0.997;0.982;0.997;0.99	D;P;P;D;P	0.65684	0.937;0.864;0.849;0.912;0.735	D	0.90457	0.4443	9	0.07175	T	0.84	.	20.1064	0.97896	0.0:1.0:0.0:0.0	.	484;415;372;133;484	B7Z5T2;F5H0L2;P82279-3;P82279-4;P82279	.;.;.;.;CRUM1_HUMAN	I	415;484;484;372;183;133	ENSP00000438786:T415I;ENSP00000438091:T484I;ENSP00000356370:T484I;ENSP00000356369:T372I;ENSP00000439579:T183I	ENSP00000356369:T372I	T	+	2	0	CRB1	195657032	1.000000	0.71417	0.985000	0.45067	0.011000	0.07611	7.405000	0.80007	2.745000	0.94114	0.650000	0.86243	ACC		0.498	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		10	92	0	0	0	0	10	92				
TNNT2	7139	broad.mit.edu	37	1	201333480	201333480	+	Silent	SNP	G	G	T	rs375675827		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:201333480G>T	ENST00000509001.1	-	10	691	c.405C>A	c.(403-405)gcC>gcA	p.A135A	TNNT2_ENST00000360372.4_Silent_p.A130A|TNNT2_ENST00000367315.2_Silent_p.A135A|TNNT2_ENST00000458432.2_Silent_p.A147A|TNNT2_ENST00000367318.5_Silent_p.A135A|TNNT2_ENST00000421663.2_Silent_p.A137A|TNNT2_ENST00000367317.4_Silent_p.A135A|TNNT2_ENST00000367320.2_Silent_p.A105A|TNNT2_ENST00000236918.7_Silent_p.A140A|TNNT2_ENST00000367322.1_Silent_p.A135A|TNNT2_ENST00000460780.1_5'Flank	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	145					ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|positive regulation of ATPase activity (GO:0032781)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle thin filament (GO:0005865)|troponin complex (GO:0005861)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						GCTGCTGCTCGGCCCGCTCTG	0.642																																						uc001gwf.2		NA																	0					0						c.(433-435)GCC>GCA		troponin T type 2, cardiac isoform 1							44.0	39.0	40.0					1																	201333480		2203	4300	6503	SO:0001819	synonymous_variant	7139				ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding	g.chr1:201333480G>T	X74819	CCDS30968.1, CCDS30969.1, CCDS60390.1, CCDS73002.1, CCDS73003.1	1q32	2014-09-17	2005-09-12		ENSG00000118194	ENSG00000118194			11949	protein-coding gene	gene with protein product		191045	"""troponin T2, cardiac"", ""cardiomyopathy, hypertrophic 2"", ""cardiomyopathy, dilated 1D (autosomal dominant)"""	CMH2, CMD1D		8088824, 8205619, 9482583	Standard	NM_001001430		Approved	CMPD2	uc001gwf.4	P45379	OTTHUMG00000035733	ENST00000509001.1:c.405C>A	1.37:g.201333480G>T						TNNT2_uc009wzn.2_5'Flank|TNNT2_uc009wzo.2_5'Flank|TNNT2_uc009wzp.2_5'Flank|TNNT2_uc001gwg.2_Silent_p.A135A|TNNT2_uc001gwh.2_Silent_p.A130A|TNNT2_uc001gwi.2_Silent_p.A105A|TNNT2_uc009wzr.2_Silent_p.A76A|TNNT2_uc001gwj.1_5'Flank|TNNT2_uc009wzs.1_Silent_p.A110A|TNNT2_uc001gwk.1_Silent_p.A76A|TNNT2_uc009wzt.1_Silent_p.A135A	p.A145A	NM_000364	NP_000355	P45379	TNNT2_HUMAN			11	504	-			145					A2TDB9|A8K3K6|O60214|Q99596|Q99597|Q9BUF6|Q9UM96	Silent	SNP	ENST00000509001.1	37	c.435C>A	CCDS30969.1																																																																																				0.642	TNNT2-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360358.1	NM_000364		5	49	1	0	1.24e-05	1.3e-05	5	49				
PPFIA4	8497	broad.mit.edu	37	1	203025986	203025986	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:203025986G>A	ENST00000447715.2	+	24	2690	c.2249G>A	c.(2248-2250)cGc>cAc	p.R750H	PPFIA4_ENST00000414050.2_Missense_Mutation_p.R479H|PPFIA4_ENST00000272198.6_Missense_Mutation_p.R266H|PPFIA4_ENST00000599966.1_Missense_Mutation_p.R266H|PPFIA4_ENST00000367240.2_Missense_Mutation_p.R751H|PPFIA4_ENST00000295706.4_Missense_Mutation_p.R266H			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	750					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						GGCGCCAAGCGCAAGGGCATC	0.622																																						uc001gyz.2		NA																	0				ovary(4)|skin(1)	5						c.(796-798)CGC>CAC		protein tyrosine phosphatase, receptor type, f							41.0	46.0	44.0					1																	203025986		2172	4284	6456	SO:0001583	missense	8497				cell communication	cell surface|cytoplasm	protein binding	g.chr1:203025986G>A	AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"""Sterile alpha motif (SAM) domain containing"""	9248	protein-coding gene	gene with protein product	"""Liprin-alpha4"""	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.2249G>A	1.37:g.203025986G>A	ENSP00000402576:p.Arg750His					PPFIA4_uc009xaj.2_Missense_Mutation_p.R897H|PPFIA4_uc010pqf.1_Missense_Mutation_p.R479H|PPFIA4_uc001gza.2_Missense_Mutation_p.R266H|PPFIA4_uc001gzb.1_5'UTR	p.R266H	NM_015053	NP_055868	O75335	LIPA4_HUMAN			6	1390	+			266					A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Missense_Mutation	SNP	ENST00000447715.2	37	c.797G>A		.	.	.	.	.	.	.	.	.	.	g	18.37	3.608367	0.66558	.	.	ENSG00000143847	ENST00000367240;ENST00000447715;ENST00000295706;ENST00000414050;ENST00000272198	T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55	5.19	5.19	0.71726	.	0.000000	0.41823	D	0.000807	T	0.60715	0.2290	L	0.46157	1.445	0.45554	D	0.998505	D;B;D;D	0.65815	0.962;0.05;0.995;0.992	P;B;P;P	0.59288	0.635;0.013;0.855;0.635	T	0.62840	-0.6769	10	0.87932	D	0	-20.7125	12.2619	0.54655	0.0771:0.0:0.9229:0.0	.	479;750;266;266	B4DIS5;B1N949;O75335-2;O75335	.;.;.;LIPA4_HUMAN	H	751;750;266;479;266	ENSP00000356209:R751H;ENSP00000402576:R750H;ENSP00000295706:R266H;ENSP00000400379:R479H;ENSP00000272198:R266H	ENSP00000272198:R266H	R	+	2	0	PPFIA4	201292609	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.095000	0.64529	2.697000	0.92050	0.651000	0.88453	CGC		0.622	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1	NM_015053		7	55	0	0	0	0	7	55				
USH2A	7399	broad.mit.edu	37	1	215960129	215960129	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:215960129T>C	ENST00000307340.3	-	52	10656	c.10270A>G	c.(10270-10272)Att>Gtt	p.I3424V	USH2A_ENST00000366943.2_Missense_Mutation_p.I3424V	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3424	Fibronectin type-III 19. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACAGTGCAAATGTGGCTGGTA	0.463										HNSCC(13;0.011)																												uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(10270-10272)ATT>GTT		usherin isoform B							110.0	95.0	100.0					1																	215960129		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215960129T>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10270A>G	1.37:g.215960129T>C	ENSP00000305941:p.Ile3424Val	HNSCC(13;0.011)					p.I3424V	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	52	10657	-			3424			Fibronectin type-III 19.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.10270A>G	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	0.681	-0.798141	0.02862	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.12255	2.71;2.7	4.88	-1.96	0.07525	Fibronectin, type III (3);	0.762525	0.11075	N	0.602422	T	0.06416	0.0165	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44651	-0.9314	10	0.12766	T	0.61	.	10.1691	0.42900	0.0:0.2877:0.0:0.7123	.	3424	O75445	USH2A_HUMAN	V	3424	ENSP00000305941:I3424V;ENSP00000355910:I3424V	ENSP00000305941:I3424V	I	-	1	0	USH2A	214026752	0.000000	0.05858	0.004000	0.12327	0.774000	0.43823	-1.405000	0.02492	-0.418000	0.07450	-0.177000	0.13119	ATT		0.463	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		5	43	0	0	0	0	5	43				
ITPKB	3707	broad.mit.edu	37	1	226829801	226829801	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:226829801T>C	ENST00000272117.3	-	4	2271	c.2272A>G	c.(2272-2274)Aag>Gag	p.K758E	ITPKB_ENST00000429204.1_Missense_Mutation_p.K758E			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	758					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				TTCCGGGCCTTCGTGAGCTCC	0.647																																					Colon(84;110 1851 5306 33547)	uc010pvo.1		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(2272-2274)AAG>GAG		1D-myo-inositol-trisphosphate 3-kinase B							109.0	111.0	110.0					1																	226829801		2203	4300	6503	SO:0001583	missense	3707						ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr1:226829801T>C	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.2272A>G	1.37:g.226829801T>C	ENSP00000272117:p.Lys758Glu						p.K758E	NM_002221	NP_002212	P27987	IP3KB_HUMAN			5	2612	-		Prostate(94;0.0773)	758					Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Missense_Mutation	SNP	ENST00000272117.3	37	c.2272A>G	CCDS1555.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.291795	0.80914	.	.	ENSG00000143772	ENST00000272117;ENST00000429204	T;T	0.11604	2.76;2.76	5.8	4.65	0.58169	.	0.044245	0.85682	D	0.000000	T	0.36248	0.0960	M	0.88640	2.97	0.48087	D	0.999587	D	0.63046	0.992	D	0.66497	0.944	T	0.30736	-0.9968	10	0.62326	D	0.03	-32.1863	12.221	0.54433	0.1277:0.0:0.0:0.8723	.	758	P27987	IP3KB_HUMAN	E	758	ENSP00000272117:K758E;ENSP00000411152:K758E	ENSP00000272117:K758E	K	-	1	0	ITPKB	224896424	1.000000	0.71417	0.996000	0.52242	0.900000	0.52787	6.013000	0.70776	0.980000	0.38523	0.528000	0.53228	AAG		0.647	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		20	238	0	0	0	0	20	238				
ITPKB	3707	broad.mit.edu	37	1	226924442	226924442	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:226924442G>A	ENST00000272117.3	-	1	717	c.718C>T	c.(718-720)Cgg>Tgg	p.R240W	ITPKB_ENST00000366784.1_Missense_Mutation_p.R240W|ITPKB_ENST00000429204.1_Missense_Mutation_p.R240W			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	240					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GGGGCAGCCCGGCCGGGAAGA	0.602																																					Colon(84;110 1851 5306 33547)	uc010pvo.1		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(718-720)CGG>TGG		1D-myo-inositol-trisphosphate 3-kinase B							62.0	66.0	65.0					1																	226924442		2200	4296	6496	SO:0001583	missense	3707						ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr1:226924442G>A	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.718C>T	1.37:g.226924442G>A	ENSP00000272117:p.Arg240Trp					ITPKB_uc001hqh.2_Missense_Mutation_p.R240W	p.R240W	NM_002221	NP_002212	P27987	IP3KB_HUMAN			2	1058	-		Prostate(94;0.0773)	240					Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Missense_Mutation	SNP	ENST00000272117.3	37	c.718C>T	CCDS1555.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.798116	0.31777	.	.	ENSG00000143772	ENST00000272117;ENST00000429204;ENST00000366784	T;T;T	0.25579	1.81;1.81;1.79	4.6	2.73	0.32206	.	1.866530	0.02627	N	0.103886	T	0.15869	0.0382	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20940	-1.0260	10	0.56958	D	0.05	.	5.9808	0.19405	0.3147:0.0:0.6853:0.0	.	240	P27987	IP3KB_HUMAN	W	240	ENSP00000272117:R240W;ENSP00000411152:R240W;ENSP00000355748:R240W	ENSP00000272117:R240W	R	-	1	2	ITPKB	224991065	0.015000	0.18098	0.004000	0.12327	0.015000	0.08874	1.911000	0.39937	0.556000	0.29098	0.561000	0.74099	CGG		0.602	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		20	223	0	0	0	0	20	223				
LYST	1130	broad.mit.edu	37	1	235969573	235969573	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:235969573C>T	ENST00000389794.3	-	6	3037	c.2863G>A	c.(2863-2865)Gaa>Aaa	p.E955K	LYST_ENST00000536965.1_Missense_Mutation_p.E955K|LYST_ENST00000389793.2_Missense_Mutation_p.E955K			Q99698	LYST_HUMAN	lysosomal trafficking regulator	955					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.E955Q(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGCATATGTTCAGGAGAAGGC	0.458																																						uc001hxj.2		NA																	1	Substitution - Missense(1)		cervix(1)	ovary(6)|breast(4)|central_nervous_system(2)	12						c.(2863-2865)GAA>AAA		lysosomal trafficking regulator							105.0	100.0	102.0					1																	235969573		2203	4300	6503	SO:0001583	missense	1130	Chediak-Higashi_syndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235969573C>T	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.2863G>A	1.37:g.235969573C>T	ENSP00000374444:p.Glu955Lys					LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.E955K	p.E955K	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		6	3038	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	955					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.2863G>A	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.951728	0.53186	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.75821	-0.97;-0.97;0.18	5.6	2.5	0.30297	.	0.203360	0.50627	N	0.000114	T	0.68650	0.3024	M	0.64997	1.995	0.47819	D	0.999527	B;B	0.15930	0.015;0.009	B;B	0.16722	0.014;0.016	T	0.61138	-0.7123	10	0.40728	T	0.16	.	10.0278	0.42081	0.0:0.7675:0.0:0.2325	.	955;955	Q99698-3;Q99698	.;LYST_HUMAN	K	955	ENSP00000374444:E955K;ENSP00000374443:E955K;ENSP00000438315:E955K	ENSP00000374443:E955K	E	-	1	0	LYST	234036196	0.994000	0.37717	0.004000	0.12327	0.783000	0.44284	3.190000	0.50973	0.223000	0.20920	0.655000	0.94253	GAA		0.458	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			9	130	0	0	0	0	9	130				
CUBN	8029	broad.mit.edu	37	10	16957109	16957109	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr10:16957109T>C	ENST00000377833.4	-	47	7338	c.7273A>G	c.(7273-7275)Act>Gct	p.T2425A		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2425	CUB 17. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACCACAGCAGTATTGCTAGAA	0.428																																						uc001ioo.2		NA																	0				ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(7273-7275)ACT>GCT		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						118.0	103.0	108.0					10																	16957109		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16957109T>C	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.7273A>G	10.37:g.16957109T>C	ENSP00000367064:p.Thr2425Ala						p.T2425A	NM_001081	NP_001072	O60494	CUBN_HUMAN			47	7325	-			2425			CUB 17.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.7273A>G	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	T	3.990	-0.004643	0.07773	.	.	ENSG00000107611	ENST00000377833	T	0.17054	2.3	5.01	-0.243	0.13035	CUB (5);	0.625319	0.13206	N	0.405579	T	0.07593	0.0191	N	0.17723	0.515	0.80722	D	1	B	0.12630	0.006	B	0.15052	0.012	T	0.33803	-0.9854	10	0.17369	T	0.5	.	1.6449	0.02760	0.2012:0.4063:0.0964:0.296	.	2425	O60494	CUBN_HUMAN	A	2425	ENSP00000367064:T2425A	ENSP00000367064:T2425A	T	-	1	0	CUBN	16997115	0.992000	0.36948	0.753000	0.31225	0.253000	0.25986	0.966000	0.29331	0.056000	0.16144	-0.334000	0.08254	ACT		0.428	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		15	115	0	0	0	0	15	115				
ZNF438	220929	broad.mit.edu	37	10	31137576	31137576	+	Silent	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr10:31137576C>A	ENST00000361310.3	-	6	2087	c.1758G>T	c.(1756-1758)ctG>ctT	p.L586L	ZNF438_ENST00000375311.1_Silent_p.L150L|ZNF438_ENST00000452305.1_Silent_p.L576L|ZNF438_ENST00000331737.6_Silent_p.L576L|ZNF438_ENST00000538351.2_Silent_p.L537L|ZNF438_ENST00000436087.2_Silent_p.L586L|ZNF438_ENST00000444692.2_Silent_p.L576L|ZNF438_ENST00000413025.1_Silent_p.L586L|ZNF438_ENST00000442986.1_Silent_p.L586L			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	586					negative regulation of transcription, DNA-templated (GO:0045892)|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(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				GCACTTCTTTCAGATGGCCAA	0.478																																						uc010qdz.1		NA																	0				ovary(1)|breast(1)	2						c.(1756-1758)CTG>CTT		zinc finger protein 438 isoform a							128.0	118.0	121.0					10																	31137576		2203	4300	6503	SO:0001819	synonymous_variant	220929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:31137576C>A	AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"""Zinc fingers, C2H2-type"""	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.1758G>T	10.37:g.31137576C>A						ZNF438_uc001ivn.2_Silent_p.L537L|ZNF438_uc010qdy.1_Silent_p.L576L|ZNF438_uc001ivo.3_Silent_p.L150L|ZNF438_uc009xlg.2_Silent_p.L586L|ZNF438_uc001ivp.3_Silent_p.L576L|ZNF438_uc010qea.1_Silent_p.L586L|ZNF438_uc010qeb.1_Silent_p.L586L|ZNF438_uc010qec.1_Silent_p.L150L	p.L586L	NM_182755	NP_877432	Q7Z4V0	ZN438_HUMAN			7	2193	-		Prostate(175;0.0587)	586			C2H2-type 3.		A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Silent	SNP	ENST00000361310.3	37	c.1758G>T	CCDS7168.1																																																																																				0.478	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	NM_182755		22	151	1	0	3.6e-14	3.97e-14	22	151				
PCDH15	65217	broad.mit.edu	37	10	55566511	55566511	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr10:55566511G>A	ENST00000373965.2	-	36	5277	c.4883C>T	c.(4882-4884)gCg>gTg	p.A1628V	PCDH15_ENST00000414778.1_Missense_Mutation_p.A1625V	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGGCTTCACCGCTGTATTGTC	0.448										HNSCC(58;0.16)																												uc010qhq.1		NA																	0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(4876-4878)GCG>GTG		protocadherin 15 isoform CD3-1 precursor							305.0	268.0	279.0					10																	55566511		1568	3582	5150	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55566511G>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000373965.2:c.4883C>T	10.37:g.55566511G>A	ENSP00000363076:p.Ala1628Val	HNSCC(58;0.16)				PCDH15_uc010qhr.1_Missense_Mutation_p.A1621V	p.A1626V	NM_001142771	NP_001136243	Q96QU1	PCD15_HUMAN			36	5272	-		Melanoma(3;0.117)|Lung SC(717;0.238)	Error:Variant_position_missing_in_Q96QU1_after_alignment					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000373965.2	37	c.4877C>T		.	.	.	.	.	.	.	.	.	.	G	0.661	-0.805728	0.02819	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746	T;T	0.56444	0.46;0.51	6.02	3.15	0.36227	.	.	.	.	.	T	0.34861	0.0912	N	0.20685	0.6	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.01281	0.0;0.0	T	0.20371	-1.0277	9	0.35671	T	0.21	.	7.552	0.27802	0.2017:0.1214:0.6769:0.0	.	1619;1625	C6ZEF7;C9J4F3	.;.	V	1628;1625;1621	ENSP00000363076:A1628V;ENSP00000410304:A1625V	ENSP00000363076:A1628V	A	-	2	0	PCDH15	55236517	0.059000	0.20769	0.000000	0.03702	0.004000	0.04260	2.582000	0.46085	0.424000	0.26061	-0.137000	0.14449	GCG		0.448	PCDH15-008	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000291336.1	NM_033056		21	270	0	0	0	0	21	270				
DNMBP	23268	broad.mit.edu	37	10	101715777	101715777	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr10:101715777G>C	ENST00000324109.4	-	4	1545	c.1454C>G	c.(1453-1455)tCa>tGa	p.S485*	DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000342239.3_Nonsense_Mutation_p.S485*	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	485					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		CCTTGAAGCTGAAACAGAAGA	0.463																																						uc001kqj.2		NA																	0				ovary(5)|skin(1)	6						c.(1453-1455)TCA>TGA		dynamin binding protein							107.0	117.0	113.0					10																	101715777		2203	4300	6503	SO:0001587	stop_gained	23268				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr10:101715777G>C	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.1454C>G	10.37:g.101715777G>C	ENSP00000315659:p.Ser485*					NCRNA00093_uc001kqk.1_Intron	p.S485*	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	4	1546	-		Colorectal(252;0.234)	485					Q8IVY3|Q9Y2L3	Nonsense_Mutation	SNP	ENST00000324109.4	37	c.1454C>G	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335079	0.81801	.	.	ENSG00000107554	ENST00000342239;ENST00000324109	.	.	.	5.92	1.64	0.23874	.	1.727580	0.03280	N	0.186073	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	3.6331	6.6749	0.23087	0.2171:0.0:0.6618:0.121	.	.	.	.	X	485	.	ENSP00000315659:S485X	S	-	2	0	DNMBP	101705767	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	0.305000	0.19254	0.031000	0.15407	0.561000	0.74099	TCA		0.463	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		12	260	0	0	0	0	12	260				
PDCD11	22984	broad.mit.edu	37	10	105172995	105172995	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr10:105172995G>A	ENST00000369797.3	+	9	1195	c.1101G>A	c.(1099-1101)gtG>gtA	p.V367V		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	367	S1 motif 4. {ECO:0000255|PROSITE- ProRule:PRU00180}.				mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TTGGAGCAGTGCTGGATGATG	0.572																																						uc001kwy.1		NA																	0				ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7						c.(1099-1101)GTG>GTA		programmed cell death 11							105.0	97.0	100.0					10																	105172995		2203	4300	6503	SO:0001819	synonymous_variant	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105172995G>A	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.1101G>A	10.37:g.105172995G>A							p.V367V	NM_014976	NP_055791	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	9	1188	+		Colorectal(252;0.0747)|Breast(234;0.128)	367			S1 motif 4.		Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Silent	SNP	ENST00000369797.3	37	c.1101G>A	CCDS31276.1																																																																																				0.572	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			16	137	0	0	0	0	16	137				
KCNK18	338567	broad.mit.edu	37	10	118969745	118969745	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr10:118969745G>A	ENST00000334549.1	+	3	1090	c.1090G>A	c.(1090-1092)Gac>Aac	p.D364N		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	364					cellular response to pH (GO:0071467)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CAGGCTGATTGACATATACAA	0.368																																						uc010qsr.1		NA																	0				upper_aerodigestive_tract(1)	1						c.(1090-1092)GAC>AAC		potassium channel, subfamily K, member 18							168.0	158.0	161.0					10																	118969745		2203	4300	6503	SO:0001583	missense	338567					integral to membrane|plasma membrane		g.chr10:118969745G>A	AB087138	CCDS7598.1	10q26.11	2012-03-07			ENSG00000186795	ENSG00000186795		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	19439	protein-coding gene	gene with protein product	"""TWIK related spinal cord K+ channel"""	613655				16382106	Standard	NM_181840		Approved	K2p18.1, TRESK-2, TRESK2, TRESK, TRIK	uc010qsr.2	Q7Z418	OTTHUMG00000019120	ENST00000334549.1:c.1090G>A	10.37:g.118969745G>A	ENSP00000334650:p.Asp364Asn						p.D364N	NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN		all cancers(201;0.0211)	3	1090	+		Colorectal(252;0.19)	364			Cytoplasmic (Potential).		Q5SQQ8	Missense_Mutation	SNP	ENST00000334549.1	37	c.1090G>A	CCDS7598.1	.	.	.	.	.	.	.	.	.	.	G	5.559	0.288061	0.10513	.	.	ENSG00000186795	ENST00000334549	T	0.14893	2.47	5.4	-3.59	0.04583	.	1.184760	0.05797	N	0.611451	T	0.09158	0.0226	N	0.14661	0.345	0.09310	N	1	B	0.18310	0.027	B	0.22152	0.038	T	0.41734	-0.9492	10	0.14656	T	0.56	.	8.9494	0.35779	0.2109:0.1486:0.5739:0.0665	.	364	Q7Z418	KCNKI_HUMAN	N	364	ENSP00000334650:D364N	ENSP00000334650:D364N	D	+	1	0	KCNK18	118959735	0.000000	0.05858	0.000000	0.03702	0.691000	0.40173	-0.060000	0.11712	-0.484000	0.06763	-0.211000	0.12701	GAC		0.368	KCNK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050562.2	NM_181840		10	210	0	0	0	0	10	210				
JAKMIP3	282973	broad.mit.edu	37	10	133950586	133950586	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr10:133950586G>A	ENST00000298622.4	+	6	1318	c.1180G>A	c.(1180-1182)Gag>Aag	p.E394K		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	394						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AAGTCAGGATGAGAGAGAAGT	0.512																																						uc001lkx.3		NA																	0				breast(1)	1						c.(1180-1182)GAG>AAG		Janus kinase and microtubule interacting protein							87.0	93.0	91.0					10																	133950586		1949	4142	6091	SO:0001583	missense	282973							g.chr10:133950586G>A	AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"""neuroendocrine long coiled-coil 2"""	611198	"""chromosome 10 open reading frame 39"", ""chromosome 10 open reading frame 14"""	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.1180G>A	10.37:g.133950586G>A	ENSP00000298622:p.Glu394Lys						p.E394K	NM_001105521	NP_001098991				OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)	6	1180	+		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)						A6PW00|Q69YM6|Q6ZT29	Missense_Mutation	SNP	ENST00000298622.4	37	c.1180G>A	CCDS44494.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052131	0.75960	.	.	ENSG00000188385	ENST00000298622	T	0.28069	1.63	4.72	4.72	0.59763	.	0.058953	0.64402	D	0.000004	T	0.53433	0.1796	M	0.71206	2.165	0.58432	D	0.999999	D	0.69078	0.997	D	0.64506	0.926	T	0.54892	-0.8225	10	0.41790	T	0.15	-21.877	17.6592	0.88187	0.0:0.0:1.0:0.0	.	394	Q5VZ66	JKIP3_HUMAN	K	394	ENSP00000298622:E394K	ENSP00000298622:E394K	E	+	1	0	JAKMIP3	133800576	1.000000	0.71417	0.185000	0.23176	0.698000	0.40448	9.206000	0.95056	2.140000	0.66376	0.586000	0.80456	GAG		0.512	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303		13	84	0	0	0	0	13	84				
STIM1	6786	broad.mit.edu	37	11	4112527	4112527	+	Silent	SNP	C	C	T	rs201573756		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:4112527C>T	ENST00000300737.4	+	12	2126	c.1557C>T	c.(1555-1557)tcC>tcT	p.S519S	STIM1_ENST00000527651.1_Nonsense_Mutation_p.R532*|STIM1_ENST00000533977.1_Silent_p.S346S	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	519					activation of store-operated calcium channel activity (GO:0032237)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|regulation of calcium ion transport (GO:0051924)|regulation of store-operated calcium entry (GO:2001256)|store-operated calcium entry (GO:0002115)	cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of plasma membrane (GO:0005887)|microtubule (GO:0005874)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|microtubule plus-end binding (GO:0051010)|store-operated calcium channel activity (GO:0015279)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		TGACCCATTCCGATTCGGAGT	0.552																																						uc001lyv.2		NA																	0				pancreas(1)	1						c.(1555-1557)TCC>TCT		stromal interaction molecule 1 precursor		C		0,4402		0,0,2201	88.0	89.0	89.0		1557	5.4	1.0	11		89	1,8595		0,1,4297	no	coding-synonymous	STIM1	NM_003156.3		0,1,6498	TT,TC,CC		0.0116,0.0,0.0077		519/686	4112527	1,12997	2201	4298	6499	SO:0001819	synonymous_variant	6786				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding	g.chr11:4112527C>T	BC021300, U52426	CCDS7749.1, CCDS60706.1, CCDS73247.1	11p15.5	2014-09-17			ENSG00000167323	ENSG00000167323		"""Sterile alpha motif (SAM) domain containing"""	11386	protein-coding gene	gene with protein product		605921				8921403, 11463338, 11983428	Standard	NM_003156		Approved	GOK, D11S4896E	uc021qco.1	Q13586	OTTHUMG00000133360	ENST00000300737.4:c.1557C>T	11.37:g.4112527C>T						STIM1_uc009yef.2_Nonsense_Mutation_p.R532*|STIM1_uc009yeg.2_Silent_p.S346S	p.S519S	NM_003156	NP_003147	Q13586	STIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)	12	2125	+		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)	519			Cytoplasmic (Potential).		E9PQJ4|Q8N382	Silent	SNP	ENST00000300737.4	37	c.1557C>T	CCDS7749.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.529024|5.529024	0.96446|0.96446	0.0|0.0	1.16E-4|1.16E-4	ENSG00000167323|ENSG00000167323	ENST00000526596|ENST00000527651	.|.	.|.	.|.	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	.|.	.|.	.|.	.|.	T|.	0.37945|.	0.1022|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.15694|.	-1.0428|.	4|.	.|0.06757	.|T	.|0.87	-32.6465|-32.6465	11.9859|11.9859	0.53147|0.53147	0.173:0.827:0.0:0.0|0.173:0.827:0.0:0.0	.|.	.|.	.|.	.|.	L|X	281|532	.|.	.|ENSP00000436208:R532X	P|R	+|+	2|1	0|2	STIM1|STIM1	4069103|4069103	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.296000|1.296000	0.33389|0.33389	2.687000|2.687000	0.91594|0.91594	0.655000|0.655000	0.94253|0.94253	CCG|CGA		0.552	STIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257196.1	NM_003156		13	159	0	0	0	0	13	159				
MMP26	56547	broad.mit.edu	37	11	4825751	4825751	+	Intron	SNP	G	G	C	rs112773148	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:4825751G>C	ENST00000380390.1	+	1	72				OR52R1_ENST00000356069.2_5'Flank|OR52R1_ENST00000380382.1_Missense_Mutation_p.L33V|MMP26_ENST00000477339.1_Intron			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26						collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	TTATAAACTAGAATAATTTCA	0.303																																						uc010qym.1		NA																	0				skin(1)	1						c.(97-99)CTA>GTA		olfactory receptor, family 52, subfamily R,							45.0	48.0	47.0					11																	4825751		2201	4294	6495	SO:0001627	intron_variant	119695				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4825751G>C	AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"""matrilysin 2"""	605470	"""matrix metalloproteinase 26"""			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.-145+37180G>C	11.37:g.4825751G>C							p.L33V	NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	97	-		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)	Error:Variant_position_missing_in_Q8NGF1_after_alignment					Q3MJ78|Q9GZS2|Q9NR87	Missense_Mutation	SNP	ENST00000380390.1	37	c.97C>G	CCDS7752.1	.	.	.	.	.	.	.	.	.	.	G	5.161	0.215232	0.09810	.	.	ENSG00000176937	ENST00000380382	T	0.00406	7.55	4.17	2.23	0.28157	.	.	.	.	.	T	0.00271	0.0008	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35450	-0.9788	5	.	.	.	.	4.9621	0.14072	0.1172:0.2213:0.6615:0.0	.	.	.	.	V	33	ENSP00000369742:L33V	.	L	-	1	2	OR52R1	4782327	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.919000	0.04017	1.034000	0.39945	0.650000	0.86243	CTA		0.303	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3	NM_021801		9	100	0	0	0	0	9	100				
OR52A4	390053	broad.mit.edu	37	11	5142588	5142588	+	RNA	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:5142588T>C	ENST00000498233.1	-	0	810							A6NMU1	O52A4_HUMAN	olfactory receptor, family 52, subfamily A, member 4							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		AAGTGAAATGTCTGTGGCTCC	0.423																																						uc001lzz.1		NA																	0				ovary(2)	2						c.(220-222)GAC>GGC		olfactory receptor, family 52, subfamily A,							60.0	60.0	60.0					11																	5142588		2201	4298	6499			390053							g.chr11:5142588T>C			11p15.4	2012-10-03	2012-10-03	2012-10-03	ENSG00000205494	ENSG00000205494		"""GPCR / Class A : Olfactory receptors"""	19579	pseudogene	pseudogene							Standard	NG_029079		Approved			A6NMU1	OTTHUMG00000066610		11.37:g.5142588T>C						OR52A4_uc001maa.2_RNA	p.D74G	NM_001005222	NP_001005222				Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)	1	221	-		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)							Missense_Mutation	SNP	ENST00000498233.1	37	c.221A>G		.	.	.	.	.	.	.	.	.	.	T	13.49	2.253725	0.39797	.	.	ENSG00000248953	ENST00000380369	.	.	.	4.07	2.91	0.33838	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.66509	0.2796	.	.	.	0.23724	N	0.997013	D	0.67145	0.996	P	0.62184	0.899	T	0.75396	-0.3332	6	0.72032	D	0.01	.	9.8255	0.40910	0.0:0.0:0.1735:0.8265	.	74	A6NMU1	O52A4_HUMAN	G	74	.	ENSP00000369727:D74G	D	-	2	0	OR52A4	5099164	1.000000	0.71417	0.994000	0.49952	0.978000	0.69477	5.616000	0.67709	0.697000	0.31718	0.528000	0.53228	GAC		0.423	OR52A4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000268565.1	NG_029079		9	67	0	0	0	0	9	67				
OR51B6	390058	broad.mit.edu	37	11	5373628	5373628	+	Silent	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:5373628T>C	ENST00000380219.1	+	1	891	c.891T>C	c.(889-891)atT>atC	p.I297I	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	297					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTAAGCAGATTCAGAGTGGCA	0.423																																						uc010qzb.1		NA																	0				ovary(1)|skin(1)	2						c.(889-891)ATT>ATC		olfactory receptor, family 51, subfamily B,							103.0	104.0	103.0					11																	5373628		2201	4297	6498	SO:0001819	synonymous_variant	390058				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5373628T>C		CCDS31379.1	11p15.4	2012-08-09			ENSG00000176239	ENSG00000176239		"""GPCR / Class A : Olfactory receptors"""	19600	protein-coding gene	gene with protein product							Standard	NM_001004750		Approved		uc010qzb.2	Q9H340	OTTHUMG00000066669	ENST00000380219.1:c.891T>C	11.37:g.5373628T>C						HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.I297I	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	891	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	297			Cytoplasmic (Potential).			Silent	SNP	ENST00000380219.1	37	c.891T>C	CCDS31379.1																																																																																				0.423	OR51B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142960.1	NM_001004750		14	171	0	0	0	0	14	171				
UBQLN3	50613	broad.mit.edu	37	11	5530434	5530434	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:5530434G>C	ENST00000311659.4	-	2	502	c.355C>G	c.(355-357)Cag>Gag	p.Q119E	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	119										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGCTTGGCTGAGGGAGTGAT	0.607																																					Ovarian(72;684 1260 12332 41642 52180)	uc001may.1		NA																	0				ovary(3)	3						c.(355-357)CAG>GAG		ubiquilin 3							70.0	65.0	66.0					11																	5530434		2201	4297	6498	SO:0001583	missense	50613							g.chr11:5530434G>C	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.355C>G	11.37:g.5530434G>C	ENSP00000347997:p.Gln119Glu					HBG2_uc001mak.1_Intron	p.Q119E	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	441	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	119					Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	37	c.355C>G	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.659644	0.00772	.	.	ENSG00000175520	ENST00000311659;ENST00000445998	T;T	0.52057	1.21;0.68	5.59	3.66	0.41972	.	0.879217	0.09593	N	0.781239	T	0.46112	0.1376	M	0.73962	2.25	0.09310	N	1	B	0.12630	0.006	B	0.14578	0.011	T	0.41305	-0.9516	10	0.19147	T	0.46	.	7.727	0.28765	0.2001:0.0:0.7999:0.0	.	119	Q9H347	UBQL3_HUMAN	E	119	ENSP00000347997:Q119E;ENSP00000412561:Q119E	ENSP00000347997:Q119E	Q	-	1	0	UBQLN3	5487010	0.033000	0.19621	0.046000	0.18839	0.446000	0.32137	0.873000	0.28052	0.771000	0.33359	0.585000	0.79938	CAG		0.607	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		6	78	0	0	0	0	6	78				
CNGA4	1262	broad.mit.edu	37	11	6262839	6262839	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:6262839C>T	ENST00000379936.2	+	5	1211	c.1096C>T	c.(1096-1098)Ccc>Tcc	p.P366S	CNGA4_ENST00000533426.1_Missense_Mutation_p.P135S	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	366					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGCTGCAGCCCCAGACCTA	0.562																																						uc001mco.2		NA																	0				skin(1)	1						c.(1096-1098)CCC>TCC		cyclic nucleotide gated channel alpha 4							150.0	137.0	141.0					11																	6262839		2201	4296	6497	SO:0001583	missense	1262				response to stimulus|sensory perception of smell		cAMP binding	g.chr11:6262839C>T	AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2152	protein-coding gene	gene with protein product		609472	"""cyclic nucleotide gated channel beta 2"""	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.1096C>T	11.37:g.6262839C>T	ENSP00000369268:p.Pro366Ser					CNGA4_uc010raa.1_Missense_Mutation_p.P135S|CNGA4_uc001mcn.2_Missense_Mutation_p.P326S	p.P366S	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	5	1203	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	366			cNMP.|Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000379936.2	37	c.1096C>T	CCDS31408.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.594256	0.86953	.	.	ENSG00000132259	ENST00000533426;ENST00000379936	D;D	0.96685	-4.09;-4.09	5.19	5.19	0.71726	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.96818	0.8961	M	0.64080	1.96	0.58432	D	0.999998	P;P;P	0.52577	0.941;0.954;0.928	P;P;P	0.57548	0.74;0.823;0.729	D	0.95215	0.8329	10	0.19147	T	0.46	.	17.4408	0.87564	0.0:1.0:0.0:0.0	.	135;366;326	B4DYQ8;Q8IV77;Q8IV77-2	.;CNGA4_HUMAN;.	S	135;366	ENSP00000433399:P135S;ENSP00000369268:P366S	ENSP00000369268:P366S	P	+	1	0	CNGA4	6219415	0.576000	0.26700	1.000000	0.80357	0.984000	0.73092	4.292000	0.59031	2.691000	0.91804	0.655000	0.94253	CCC		0.562	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329		24	215	0	0	0	0	24	215				
ZNF214	7761	broad.mit.edu	37	11	7021140	7021140	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:7021140C>G	ENST00000278314.4	-	3	2089	c.1774G>C	c.(1774-1776)Gat>Cat	p.D592H	ZNF214_ENST00000536068.1_Missense_Mutation_p.D592H|ZNF214_ENST00000531083.1_5'Flank	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	592					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		GAATTATGATCAAATCCCTTA	0.333																																					Ovarian(22;251 657 736 21522 46864)	uc001mfa.2		NA																	0				skin(1)	1						c.(1774-1776)GAT>CAT		zinc finger protein 214							59.0	63.0	62.0					11																	7021140		2200	4292	6492	SO:0001583	missense	7761				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:7021140C>G	AF056617	CCDS31418.1	11p15.4	2013-01-08				ENSG00000149050		"""Zinc fingers, C2H2-type"", ""-"""	13006	protein-coding gene	gene with protein product		605015					Standard	NM_013249		Approved		uc001mfa.2	Q9UL59		ENST00000278314.4:c.1774G>C	11.37:g.7021140C>G	ENSP00000278314:p.Asp592His					ZNF214_uc010ray.1_Missense_Mutation_p.D592H|ZNF214_uc009yfh.1_Missense_Mutation_p.D592H	p.D592H	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN		Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)	3	2077	-			592					B2R8Q1	Missense_Mutation	SNP	ENST00000278314.4	37	c.1774G>C	CCDS31418.1	.	.	.	.	.	.	.	.	.	.	C	4.966	0.179474	0.09443	.	.	ENSG00000149050	ENST00000278314;ENST00000536068	T;T	0.60171	0.21;0.21	4.15	-0.905	0.10527	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.815621	0.10608	N	0.654778	T	0.39937	0.1097	N	0.12920	0.275	0.09310	N	1	P	0.36753	0.568	B	0.43575	0.424	T	0.33163	-0.9879	10	0.44086	T	0.13	.	3.9214	0.09245	0.1736:0.3405:0.0:0.4859	.	592	Q9UL59	ZN214_HUMAN	H	592	ENSP00000278314:D592H;ENSP00000445373:D592H	ENSP00000278314:D592H	D	-	1	0	ZNF214	6977716	0.000000	0.05858	0.002000	0.10522	0.898000	0.52572	-1.301000	0.02749	-0.145000	0.11294	0.555000	0.69702	GAT		0.333	ZNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385349.1			8	69	0	0	0	0	8	69				
NLRP14	338323	broad.mit.edu	37	11	7064475	7064475	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:7064475C>T	ENST00000299481.4	+	4	1564	c.1218C>T	c.(1216-1218)agC>agT	p.S406S		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	406	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		ATATTTCTAGCTTGTTCACAC	0.493																																						uc001mfb.1		NA																	0				ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8						c.(1216-1218)AGC>AGT		NLR family, pyrin domain containing 14							144.0	138.0	140.0					11																	7064475		2201	4296	6497	SO:0001819	synonymous_variant	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7064475C>T	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.1218C>T	11.37:g.7064475C>T							p.S406S	NM_176822	NP_789792	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	4	1541	+			406			NACHT.		Q7RTR6	Silent	SNP	ENST00000299481.4	37	c.1218C>T	CCDS7776.1																																																																																				0.493	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		20	199	0	0	0	0	20	199				
ALX4	60529	broad.mit.edu	37	11	44286446	44286446	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:44286446C>T	ENST00000329255.3	-	4	1297	c.1194G>A	c.(1192-1194)atG>atA	p.M398I		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	398					anterior/posterior pattern specification (GO:0009952)|digestive tract development (GO:0048565)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|hair follicle development (GO:0001942)|muscle organ development (GO:0007517)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of apoptotic process (GO:0042981)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						CCTTGGCCTTCATGCGGAGGG	0.667																																						uc001myb.2		NA																	0					0						c.(1192-1194)ATG>ATA		aristaless-like homeobox 4							50.0	43.0	46.0					11																	44286446		2203	4299	6502	SO:0001583	missense	60529				hair follicle development			g.chr11:44286446C>T	AF294629	CCDS31468.1	11p11.2	2011-06-20	2008-11-04		ENSG00000052850	ENSG00000052850		"""Homeoboxes / PRD class"""	450	protein-coding gene	gene with protein product		605420	"""parietal foramina 2"", ""aristaless-like homeobox 4"""	PFM2		11017806, 8644736	Standard	NM_021926		Approved	FPP, PFM, KIAA1788	uc001myb.3	Q9H161	OTTHUMG00000166557	ENST00000329255.3:c.1194G>A	11.37:g.44286446C>T	ENSP00000332744:p.Met398Ile						p.M398I	NM_021926	NP_068745	Q9H161	ALX4_HUMAN			4	1298	-			398			OAR.		Q96JN7|Q9H198|Q9HAY9	Missense_Mutation	SNP	ENST00000329255.3	37	c.1194G>A	CCDS31468.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.013949	0.93404	.	.	ENSG00000052850	ENST00000329255	D	0.95272	-3.66	5.19	5.19	0.71726	Paired-like homeodomain protein, OAR (2);	0.000000	0.85682	D	0.000000	D	0.97046	0.9035	M	0.76170	2.325	0.80722	D	1	D	0.61080	0.989	D	0.69824	0.966	D	0.97417	1.0006	10	0.72032	D	0.01	.	19.084	0.93194	0.0:1.0:0.0:0.0	.	398	Q9H161	ALX4_HUMAN	I	398	ENSP00000332744:M398I	ENSP00000332744:M398I	M	-	3	0	ALX4	44243022	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.296000	0.78790	2.575000	0.86900	0.561000	0.74099	ATG		0.667	ALX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390399.1			9	70	0	0	0	0	9	70				
TRIM51	84767	broad.mit.edu	37	11	55652963	55652963	+	Missense_Mutation	SNP	A	A	G	rs2063276	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:55652963A>G	ENST00000449290.2	+	2	151	c.59A>G	c.(58-60)aAc>aGc	p.N20S	TRIM51_ENST00000244891.3_5'Flank	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	20						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										ATCTGCATGAACTACTTCCTA	0.502													N|||	3414	0.681709	0.6452	0.683	5008	,	,		18043	0.7649		0.6153	False		,,,				2504	0.7127					uc010rip.1		NA																	0					0						c.(58-60)AAC>AGC		SPRY domain containing 5		A	SER/ASN	897,487		308,281,103	21.0	18.0	19.0		59	0.8	0.0	11	dbSNP_94	19	1962,1198		615,732,233	no	missense	SPRYD5	NM_032681.3	46	923,1013,336	GG,GA,AA		37.9114,35.1879,37.0819	possibly-damaging	20/453	55652963	2859,1685	692	1580	2272	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55652963A>G	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.59A>G	11.37:g.55652963A>G	ENSP00000395086:p.Asn20Ser					SPRYD5_uc010riq.1_5'Flank	p.N20S	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN			2	151	+		all_epithelial(135;0.226)	20			RING-type.		A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.59A>G		1411	0.6460622710622711	304	0.6178861788617886	235	0.649171270718232	421	0.736013986013986	451	0.5949868073878628	.	6.155	0.396776	0.11638	0.648121	0.620886	ENSG00000124900	ENST00000449290	D	0.83914	-1.78	0.803	0.803	0.18691	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	.	.	.	.	T	0.00012	0.0000	N	0.16266	0.395	0.36627	P	0.12391600000000003	P	0.44429	0.835	P	0.49477	0.612	T	0.42155	-0.9468	8	0.59425	D	0.04	.	5.8508	0.18691	0.9999:0.0:1.0E-4:0.0	rs2063276	20	Q9BSJ1	SPRY5_HUMAN	S	20	ENSP00000395086:N20S	ENSP00000395086:N20S	N	+	2	0	SPRYD5	55409539	0.831000	0.29352	0.005000	0.12908	0.120000	0.20174	1.010000	0.29898	0.624000	0.30286	0.128000	0.15822	AAC		0.502	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		7	138	0	0	0	0	7	138				
GLYAT	10249	broad.mit.edu	37	11	58480325	58480325	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:58480325G>A	ENST00000344743.3	-	4	365	c.224C>T	c.(223-225)aCt>aTt	p.T75I	GLYAT_ENST00000278400.3_Missense_Mutation_p.T75I|GLYAT_ENST00000529732.1_Missense_Mutation_p.T75I	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	75					acyl-CoA metabolic process (GO:0006637)|glycine metabolic process (GO:0006544)|monocarboxylic acid metabolic process (GO:0032787)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)|glycine N-benzoyltransferase activity (GO:0047962)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	GATTTGGTAAGTATTGGTATA	0.318																																						uc001nnb.2		NA																	0					0						c.(223-225)ACT>ATT		glycine-N-acyltransferase isoform a	Glycine(DB00145)						193.0	179.0	183.0					11																	58480325		2201	4295	6496	SO:0001583	missense	10249				acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity	g.chr11:58480325G>A	AF023466	CCDS7970.1, CCDS7971.1	11q12.1	2008-03-11					2.3.1.13		13734	protein-coding gene	gene with protein product		607424					Standard	NM_201648		Approved	GAT, ACGNAT	uc001nnb.3	Q6IB77		ENST00000344743.3:c.224C>T	11.37:g.58480325G>A	ENSP00000340200:p.Thr75Ile					GLYAT_uc001nnc.2_Missense_Mutation_p.T75I	p.T75I	NM_201648	NP_964011	Q6IB77	GLYAT_HUMAN			4	379	-		Breast(21;0.0044)|all_epithelial(135;0.0157)	75					O14833|Q96QK7	Missense_Mutation	SNP	ENST00000344743.3	37	c.224C>T	CCDS7970.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910420	0.52439	.	.	ENSG00000149124	ENST00000344743;ENST00000529732;ENST00000278400	T;T;T	0.16597	2.33;2.33;2.33	5.65	4.74	0.60224	Acyl-CoA N-acyltransferase (1);Glycine N-acyltransferase, N-terminal (1);	0.230059	0.43919	D	0.000511	T	0.43765	0.1262	M	0.86864	2.845	0.32497	N	0.539391	D;D	0.63880	0.991;0.993	P;D	0.65140	0.888;0.932	T	0.61574	-0.7035	10	0.42905	T	0.14	-29.2972	13.0588	0.58996	0.0:0.1613:0.8387:0.0	.	75;75	Q6IB77-2;Q6IB77	.;GLYAT_HUMAN	I	75	ENSP00000340200:T75I;ENSP00000431688:T75I;ENSP00000278400:T75I	ENSP00000278400:T75I	T	-	2	0	GLYAT	58236901	0.990000	0.36364	1.000000	0.80357	0.575000	0.36095	2.365000	0.44196	1.521000	0.48983	-0.156000	0.13503	ACT		0.318	GLYAT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394593.1			12	137	0	0	0	0	12	137				
OR4D11	219986	broad.mit.edu	37	11	59271520	59271520	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:59271520G>A	ENST00000313253.1	+	1	472	c.472G>A	c.(472-474)Gtg>Atg	p.V158M		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						CCACTCCATCGTGCAGATCTC	0.547																																						uc001noa.1		NA																	0				ovary(1)|skin(1)	2						c.(472-474)GTG>ATG		olfactory receptor, family 4, subfamily D,							220.0	189.0	200.0					11																	59271520		2201	4295	6496	SO:0001583	missense	219986				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59271520G>A	AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"""GPCR / Class A : Olfactory receptors"""	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.472G>A	11.37:g.59271520G>A	ENSP00000320077:p.Val158Met						p.V158M	NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN			1	472	+			158			Helical; Name=4; (Potential).			Missense_Mutation	SNP	ENST00000313253.1	37	c.472G>A	CCDS31563.1	.	.	.	.	.	.	.	.	.	.	g	13.23	2.174588	0.38413	.	.	ENSG00000176200	ENST00000313253	T	0.38560	1.13	5.29	3.43	0.39272	GPCR, rhodopsin-like superfamily (1);	0.314786	0.22480	N	0.059503	T	0.43656	0.1257	M	0.64260	1.97	0.34329	D	0.687431	P	0.37176	0.586	B	0.43123	0.409	T	0.56926	-0.7898	10	0.72032	D	0.01	-22.5887	7.2255	0.26012	0.159:0.1405:0.7005:0.0	.	158	Q8NGI4	OR4DB_HUMAN	M	158	ENSP00000320077:V158M	ENSP00000320077:V158M	V	+	1	0	OR4D11	59028096	0.007000	0.16637	0.943000	0.38184	0.920000	0.55202	0.798000	0.27014	0.632000	0.30432	0.557000	0.71058	GTG		0.547	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394236.1	NM_001004706		26	252	0	0	0	0	26	252				
DAK	26007	broad.mit.edu	37	11	61106642	61106642	+	Missense_Mutation	SNP	G	G	A	rs112242971		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:61106642G>A	ENST00000394900.3	+	4	527	c.298G>A	c.(298-300)Ggc>Agc	p.G100S		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	100	DhaK. {ECO:0000255|PROSITE- ProRule:PRU00814}.				carbohydrate phosphorylation (GO:0046835)|cellular carbohydrate metabolic process (GO:0044262)|glycerol metabolic process (GO:0006071)|innate immune response (GO:0045087)|regulation of innate immune response (GO:0045088)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|FAD-AMP lyase (cyclizing) activity (GO:0034012)|glycerone kinase activity (GO:0004371)|metal ion binding (GO:0046872)|triokinase activity (GO:0050354)	p.G100S(1)		NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						GGCCCAGGCCGGCACAGGTAA	0.672																																						uc001nre.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)		0						c.(298-300)GGC>AGC		dihydroxyacetone kinase 2		G	SER/GLY	0,4406		0,0,2203	30.0	32.0	31.0		298	5.1	1.0	11	dbSNP_132	31	1,8595	1.2+/-3.3	0,1,4297	yes	missense	DAK	NM_015533.3	56	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	100/576	61106642	1,13001	2203	4298	6501	SO:0001583	missense	26007				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding	g.chr11:61106642G>A		CCDS8003.1	11q12.2	2009-11-06	2006-04-04		ENSG00000149476	ENSG00000149476			24552	protein-coding gene	gene with protein product		615844	"""dihydroxyacetone kinase 2 homolog (yeast)"""				Standard	XM_005273898		Approved	DKFZP586B1621, NET45	uc001nre.3	Q3LXA3	OTTHUMG00000168076	ENST00000394900.3:c.298G>A	11.37:g.61106642G>A	ENSP00000378360:p.Gly100Ser					DDB1_uc010rlf.1_Intron|DAK_uc009ynm.1_Missense_Mutation_p.G30S	p.G100S	NM_015533	NP_056348	Q3LXA3	DHAK_HUMAN			4	555	+			100			DhaK.		Q2L9C1|Q53EQ9|Q9BVA7|Q9H895	Missense_Mutation	SNP	ENST00000394900.3	37	c.298G>A	CCDS8003.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049170	0.75846	0.0	1.16E-4	ENSG00000149476	ENST00000394900;ENST00000532173;ENST00000529479	T;T;T	0.27557	1.66;1.66;1.66	5.11	5.11	0.69529	Dak kinase (2);	0.105334	0.64402	D	0.000004	T	0.36963	0.0986	L	0.31371	0.925	0.80722	D	1	P;D	0.64830	0.835;0.994	B;P	0.52481	0.18;0.7	T	0.23404	-1.0189	10	0.72032	D	0.01	-18.2225	18.1952	0.89819	0.0:0.0:1.0:0.0	.	100;100	Q2L9C1;Q3LXA3	.;DHAK_HUMAN	S	100;100;99	ENSP00000378360:G100S;ENSP00000431844:G100S;ENSP00000432539:G99S	ENSP00000378360:G100S	G	+	1	0	DAK	60863218	1.000000	0.71417	0.997000	0.53966	0.693000	0.40251	5.422000	0.66453	2.376000	0.81061	0.555000	0.69702	GGC		0.672	DAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394425.4	NM_015533		12	76	0	0	0	0	12	76				
MYRF	745	broad.mit.edu	37	11	61539102	61539102	+	Nonsense_Mutation	SNP	C	C	T	rs202068755		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:61539102C>T	ENST00000278836.5	+	6	967	c.871C>T	c.(871-873)Cga>Tga	p.R291*	MYRF_ENST00000265460.5_Nonsense_Mutation_p.R282*|MYRF_ENST00000327797.1_5'Flank|TMEM258_ENST00000535042.1_Intron	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	291	Pro-rich.				central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GCACCCCACTCGAGCCCCATC	0.657																																						uc001nsc.1		NA																	0				breast(1)	1						c.(871-873)CGA>TGA		myelin gene regulatory factor isoform 2							82.0	96.0	91.0					11																	61539102		2202	4299	6501	SO:0001587	stop_gained	745				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:61539102C>T		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.871C>T	11.37:g.61539102C>T	ENSP00000278836:p.Arg291*					C11orf9_uc001nse.1_Nonsense_Mutation_p.R282*	p.R291*	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN			6	967	+			291			NDT80.|Pro-rich.		O43582|Q9P1Q6	Nonsense_Mutation	SNP	ENST00000278836.5	37	c.871C>T	CCDS44622.1	.	.	.	.	.	.	.	.	.	.	c	24.9	4.577698	0.86645	.	.	ENSG00000124920	ENST00000278836;ENST00000265460	.	.	.	4.41	-1.54	0.08584	.	0.094539	0.41294	D	0.000907	.	.	.	.	.	.	0.49130	D	0.999757	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.7692	14.6088	0.68501	0.641:0.359:0.0:0.0	.	.	.	.	X	291;282	.	ENSP00000265460:R282X	R	+	1	2	C11orf9	61295678	0.006000	0.16342	0.132000	0.22025	0.819000	0.46315	-0.097000	0.11042	0.001000	0.14605	0.457000	0.33378	CGA		0.657	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279		18	189	0	0	0	0	18	189				
DPP3	10072	broad.mit.edu	37	11	66276553	66276553	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:66276553C>G	ENST00000360510.2	+	18	2110	c.2045C>G	c.(2044-2046)tCa>tGa	p.S682*	BBS1_ENST00000455748.2_5'Flank|DPP3_ENST00000532677.1_Nonsense_Mutation_p.S701*|BBS1_ENST00000318312.7_5'Flank|CTD-3074O7.11_ENST00000419755.3_5'UTR|BBS1_ENST00000393994.2_5'Flank|DPP3_ENST00000453114.1_Nonsense_Mutation_p.S682*|DPP3_ENST00000541961.1_Nonsense_Mutation_p.S682*|BBS1_ENST00000537537.1_5'Flank|DPP3_ENST00000531863.1_Nonsense_Mutation_p.S702*|DPP3_ENST00000530165.1_Nonsense_Mutation_p.S652*			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	682					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						TCCCCAGGCTCAGACGTGCAG	0.502																																						uc001oig.1		NA																	0				ovary(1)|skin(1)	2						c.(2044-2046)TCA>TGA		dipeptidyl peptidase III							79.0	82.0	81.0					11																	66276553		2200	4295	6495	SO:0001587	stop_gained	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66276553C>G	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.2045C>G	11.37:g.66276553C>G	ENSP00000353701:p.Ser682*					DPP3_uc001oif.1_Nonsense_Mutation_p.S682*|DPP3_uc010rpe.1_Nonsense_Mutation_p.S671*|DPP3_uc001oih.1_Missense_Mutation_p.Q50E|BBS1_uc001oii.1_5'UTR|BBS1_uc010rpf.1_5'Flank|BBS1_uc010rpg.1_5'Flank|BBS1_uc001oij.1_5'Flank|BBS1_uc001oik.1_5'Flank|BBS1_uc001oil.1_5'Flank	p.S682*	NM_005700	NP_005691	Q9NY33	DPP3_HUMAN			18	2107	+			682					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Nonsense_Mutation	SNP	ENST00000360510.2	37	c.2045C>G	CCDS8141.1	.	.	.	.	.	.	.	.	.	.	C	35	5.492703	0.96339	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000530165;ENST00000543807;ENST00000347422	.	.	.	5.3	5.3	0.74995	.	0.130693	0.48286	D	0.000185	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	14.5126	0.67797	0.0:1.0:0.0:0.0	.	.	.	.	X	702;701;682;682;682;652;580;262	.	ENSP00000309957:S262X	S	+	2	0	DPP3	66033129	0.732000	0.28121	1.000000	0.80357	0.215000	0.24574	2.012000	0.40932	2.498000	0.84270	0.555000	0.69702	TCA		0.502	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			13	156	0	0	0	0	13	156				
RBM4	5936	broad.mit.edu	37	11	66411036	66411036	+	Silent	SNP	G	G	A	rs373465062		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:66411036G>A	ENST00000409406.1	+	2	1305	c.528G>A	c.(526-528)ccG>ccA	p.P176P	RBM4_ENST00000396053.4_Intron|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000408993.2_Silent_p.P176P|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Silent_p.P151P|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000310092.7_Silent_p.P176P|RBM4_ENST00000503028.2_Silent_p.P176P|RBM4_ENST00000398692.4_Intron|RBM14-RBM4_ENST00000412278.2_Silent_p.P151P|RBM4_ENST00000530235.1_Intron			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	176					cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		AAGAGTGTCCGATAGATCGTT	0.572																																						uc009yrj.2		NA																	0				ovary(1)	1						c.(526-528)CCG>CCA		RNA binding motif protein 4		G	,,,,	0,4386		0,0,2193	72.0	79.0	77.0		,,453,,528	-1.6	0.9	11		77	1,8583	1.2+/-3.3	0,1,4291	no	intron,intron,coding-synonymous,intron,coding-synonymous	RBM4,RBM14-RBM4	NM_001198843.1,NM_001198844.1,NM_001198845.1,NM_001198846.1,NM_002896.3	,,,,	0,1,6484	AA,AG,GG		0.0116,0.0,0.0077	,,,,	,,151/340,,176/365	66411036	1,12969	2193	4292	6485	SO:0001819	synonymous_variant	5936				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|negative regulation of translation in response to stress|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|positive regulation of muscle cell differentiation|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of nucleocytoplasmic transport|RNA splicing|stress-activated MAPK cascade	nuclear speck|nucleolus|stress granule	miRNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|zinc ion binding	g.chr11:66411036G>A	U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.528G>A	11.37:g.66411036G>A						RBM4_uc009yrk.2_Silent_p.P151P|RBM4_uc001oiw.1_Silent_p.P176P|RBM4_uc001oix.1_Intron|RBM4_uc010rpj.1_Intron|RBM4_uc001oiy.1_Silent_p.P176P|RBM4_uc001oiz.1_Silent_p.P176P	p.P176P	NM_002896	NP_002887	Q9BWF3	RBM4_HUMAN		Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)	3	1016	+			176			CCHC-type.		B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	Silent	SNP	ENST00000409406.1	37	c.528G>A	CCDS41676.1																																																																																				0.572	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334212.1	NM_002896		7	98	0	0	0	0	7	98				
PITPNM1	9600	broad.mit.edu	37	11	67262398	67262398	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:67262398C>T	ENST00000534749.1	-	17	2849	c.2661G>A	c.(2659-2661)gcG>gcA	p.A887A	PITPNM1_ENST00000526450.1_5'UTR|PITPNM1_ENST00000436757.2_Silent_p.A886A|PITPNM1_ENST00000356404.3_Silent_p.A887A			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	887					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						CCTCGCATTCCGCCAGCTGTG	0.677																																					GBM(28;144 709 4607 5525)	uc001olx.2		NA																	0				lung(2)|central_nervous_system(1)	3						c.(2659-2661)GCG>GCA		phosphatidylinositol transfer protein,							90.0	82.0	85.0					11																	67262398		2200	4295	6495	SO:0001819	synonymous_variant	9600				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	g.chr11:67262398C>T	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"""PYK2 N-terminal domain-interacting receptor 2"", ""retinal degeneration B alpha 1"""	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.2661G>A	11.37:g.67262398C>T						PITPNM1_uc001olw.2_Silent_p.A169A|PITPNM1_uc001oly.2_Silent_p.A887A|PITPNM1_uc001olz.2_Silent_p.A886A	p.A887A	NM_004910	NP_004901	O00562	PITM1_HUMAN			17	2850	-			887					A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Silent	SNP	ENST00000534749.1	37	c.2661G>A	CCDS31620.1																																																																																				0.677	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	NM_004910		12	132	0	0	0	0	12	132				
TPCN2	219931	broad.mit.edu	37	11	68846367	68846367	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:68846367A>G	ENST00000294309.3	+	16	1519	c.1418A>G	c.(1417-1419)aAc>aGc	p.N473S	TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Missense_Mutation_p.N473S	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	473					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CAGATTCTCAACTGCGTCTTC	0.597																																						uc001oos.2		NA																	0					0						c.(1417-1419)AAC>AGC		two pore segment channel 2							117.0	104.0	108.0					11																	68846367		2200	4294	6494	SO:0001583	missense	219931				cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity	g.chr11:68846367A>G	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"""Voltage-gated ion channels / Two-pore channels"""	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.1418A>G	11.37:g.68846367A>G	ENSP00000294309:p.Asn473Ser					TPCN2_uc001oor.2_Missense_Mutation_p.N388S|TPCN2_uc010rqg.1_Missense_Mutation_p.N473S|TPCN2_uc001oot.2_RNA	p.N473S	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		16	1534	+			473			Helical; Name=S2 of repeat II; (Potential).		Q9NT82	Missense_Mutation	SNP	ENST00000294309.3	37	c.1418A>G	CCDS8189.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.75|11.75	1.732742|1.732742	0.30684|0.30684	.|.	.|.	ENSG00000162341|ENSG00000162341	ENST00000294309;ENST00000535009;ENST00000542467|ENST00000356782	D;D|.	0.97710|.	-4.5;-4.5|.	4.35|4.35	1.81|1.81	0.25067|0.25067	Ion transport (1);|.	0.257753|.	0.36482|.	N|.	0.002570|.	T|T	0.61464|0.61464	0.2349|0.2349	M|M	0.87682|0.87682	2.9|2.9	0.38029|0.38029	D|D	0.935083|0.935083	P;P;P|.	0.42908|.	0.793;0.674;0.754|.	B;B;B|.	0.43508|.	0.422;0.331;0.297|.	T|T	0.59354|0.59354	-0.7470|-0.7470	10|6	0.42905|0.07482	T|T	0.14|0.82	-10.1391|-10.1391	6.0316|6.0316	0.19683|0.19683	0.7731:0.0:0.0832:0.1436|0.7731:0.0:0.0832:0.1436	.|.	473;473;388|.	E7ETX0;Q8NHX9;F5H1G5|.	.;TPC2_HUMAN;.|.	S|A	473;388;473|347	ENSP00000294309:N473S;ENSP00000445551:N473S|.	ENSP00000294309:N473S|ENSP00000349231:T347A	N|T	+|+	2|1	0|0	TPCN2|TPCN2	68602943|68602943	1.000000|1.000000	0.71417|0.71417	0.780000|0.780000	0.31762|0.31762	0.497000|0.497000	0.33675|0.33675	5.168000|5.168000	0.64978|0.64978	0.537000|0.537000	0.28751|0.28751	0.379000|0.379000	0.24179|0.24179	AAC|ACT		0.597	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	NM_139075		20	123	0	0	0	0	20	123				
KRTAP5-8	57830	broad.mit.edu	37	11	71249137	71249137	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:71249137C>T	ENST00000398534.3	+	1	67	c.36C>T	c.(34-36)tcC>tcT	p.S12S		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	12						keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						GCTGTGGCTCCGGCTGTGGGG	0.647																																						uc001oqr.1		NA																	0					0						c.(34-36)TCC>TCT		keratin associated protein 5-8							51.0	71.0	64.0					11																	71249137		2193	4284	6477	SO:0001819	synonymous_variant	57830					extracellular region|keratin filament	structural constituent of epidermis	g.chr11:71249137C>T	AB126077	CCDS41683.1	11q13.4	2008-02-05			ENSG00000241233	ENSG00000241233		"""Keratin associated proteins"""	23603	protein-coding gene	gene with protein product						15144888	Standard	NM_021046		Approved	KRTAP5.8, UHSKerB, KRTAP5-2	uc001oqr.1	O75690	OTTHUMG00000057571	ENST00000398534.3:c.36C>T	11.37:g.71249137C>T							p.S12S	NM_021046	NP_066384	O75690	KRA58_HUMAN			1	67	+			12					Q6L8G7|Q6UTX6	Silent	SNP	ENST00000398534.3	37	c.36C>T	CCDS41683.1																																																																																				0.647	KRTAP5-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127954.1	NM_021046		18	123	0	0	0	0	18	123				
MTNR1B	4544	broad.mit.edu	37	11	92715107	92715107	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:92715107C>T	ENST00000257068.2	+	2	724	c.718C>T	c.(718-720)Ctg>Ttg	p.L240L		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	240					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	AGAGAGCAGGCTGTGCCTGAA	0.577																																						uc001pdk.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(718-720)CTG>TTG		melatonin receptor 1B	Ramelteon(DB00980)						91.0	76.0	81.0					11																	92715107		2201	4298	6499	SO:0001819	synonymous_variant	4544				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	g.chr11:92715107C>T	AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"""GPCR / Class A : Melatonin receptors"""	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.718C>T	11.37:g.92715107C>T							p.L240L	NM_005959	NP_005950	P49286	MTR1B_HUMAN			2	821	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	240			Cytoplasmic (Potential).			Silent	SNP	ENST00000257068.2	37	c.718C>T	CCDS8290.1																																																																																				0.577	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1			7	105	0	0	0	0	7	105				
GPR83	10888	broad.mit.edu	37	11	94113678	94113678	+	Silent	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:94113678G>C	ENST00000243673.2	-	4	1080	c.909C>G	c.(907-909)ctC>ctG	p.L303L	GPR83_ENST00000539203.2_Silent_p.L261L	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	303					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GGAACCAGCAGAGGGCAAAGA	0.527																																						uc001pet.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(907-909)CTC>CTG		G protein-coupled receptor 83 precursor							145.0	103.0	117.0					11																	94113678		2201	4298	6499	SO:0001819	synonymous_variant	10888					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr11:94113678G>C	AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"""GPCR / Class A : Orphans"""	4523	protein-coding gene	gene with protein product		605569	"""G protein-coupled receptor 72"""	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.909C>G	11.37:g.94113678G>C							p.L303L	NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN			4	1081	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	303			Helical; Name=6; (Potential).		B0M0K5|Q6NWR4|Q9P1Y8	Silent	SNP	ENST00000243673.2	37	c.909C>G	CCDS8297.1																																																																																				0.527	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396232.1	NM_016540		9	110	0	0	0	0	9	110				
PDGFD	80310	broad.mit.edu	37	11	103814225	103814225	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:103814225T>A	ENST00000393158.2	-	5	906	c.727A>T	c.(727-729)Acc>Tcc	p.T243S	RP11-617B3.2_ENST00000527804.1_RNA|PDGFD_ENST00000302251.5_Missense_Mutation_p.T237S			Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	243					cellular response to amino acid stimulus (GO:0071230)|multicellular organismal development (GO:0007275)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		TACCGAGGGGTGTCCAGATAC	0.408																																						uc001phq.2		NA																	0				upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(727-729)ACC>TCC		platelet derived growth factor D isoform 1							122.0	101.0	108.0					11																	103814225		2202	4299	6501	SO:0001583	missense	80310				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity	g.chr11:103814225T>A	AF113216	CCDS8326.1, CCDS41703.1	11q22.3	2008-02-05			ENSG00000170962	ENSG00000170962			30620	protein-coding gene	gene with protein product	"""spinal cord derived growth factor B"""	609673				11162582, 11980634	Standard	NM_033135		Approved	SCDGF-B, MSTP036, IEGF	uc001phq.3	Q9GZP0	OTTHUMG00000165953	ENST00000393158.2:c.727A>T	11.37:g.103814225T>A	ENSP00000376865:p.Thr243Ser					PDGFD_uc001php.2_Missense_Mutation_p.T237S	p.T243S	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)	5	1099	-		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)	243					A8K9T6|Q9BWV5	Missense_Mutation	SNP	ENST00000393158.2	37	c.727A>T	CCDS41703.1	.	.	.	.	.	.	.	.	.	.	T	8.896	0.955250	0.18507	.	.	ENSG00000170962	ENST00000393158;ENST00000302251	T;T	0.24723	1.84;1.84	5.53	3.14	0.36123	.	0.157640	0.53938	D	0.000043	T	0.17746	0.0426	L	0.34521	1.04	0.22081	N	0.999372	B;B	0.27971	0.049;0.196	B;B	0.26693	0.012;0.072	T	0.14868	-1.0457	10	0.40728	T	0.16	-3.6122	8.3976	0.32566	0.0:0.0688:0.1327:0.7986	.	243;237	Q9GZP0;Q9GZP0-2	PDGFD_HUMAN;.	S	243;237	ENSP00000376865:T243S;ENSP00000302193:T237S	ENSP00000302193:T237S	T	-	1	0	PDGFD	103319435	0.923000	0.31300	0.416000	0.26546	0.027000	0.11550	3.194000	0.51005	0.448000	0.26722	0.528000	0.53228	ACC		0.408	PDGFD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387231.2	NM_025208		5	54	0	0	0	0	5	54				
PDGFD	80310	broad.mit.edu	37	11	103814353	103814353	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:103814353A>G	ENST00000393158.2	-	5	778	c.599T>C	c.(598-600)gTa>gCa	p.V200A	RP11-617B3.2_ENST00000527804.1_RNA|PDGFD_ENST00000302251.5_Missense_Mutation_p.V194A			Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	200					cellular response to amino acid stimulus (GO:0071230)|multicellular organismal development (GO:0007275)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		GGGATCCGTTACTGATGGAGA	0.418																																						uc001phq.2		NA																	0				upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(598-600)GTA>GCA		platelet derived growth factor D isoform 1							79.0	68.0	72.0					11																	103814353		2202	4299	6501	SO:0001583	missense	80310				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity	g.chr11:103814353A>G	AF113216	CCDS8326.1, CCDS41703.1	11q22.3	2008-02-05			ENSG00000170962	ENSG00000170962			30620	protein-coding gene	gene with protein product	"""spinal cord derived growth factor B"""	609673				11162582, 11980634	Standard	NM_033135		Approved	SCDGF-B, MSTP036, IEGF	uc001phq.3	Q9GZP0	OTTHUMG00000165953	ENST00000393158.2:c.599T>C	11.37:g.103814353A>G	ENSP00000376865:p.Val200Ala					PDGFD_uc001php.2_Missense_Mutation_p.V194A	p.V200A	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)	5	971	-		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)	200					A8K9T6|Q9BWV5	Missense_Mutation	SNP	ENST00000393158.2	37	c.599T>C	CCDS41703.1	.	.	.	.	.	.	.	.	.	.	A	17.50	3.405992	0.62288	.	.	ENSG00000170962	ENST00000393158;ENST00000302251	T;T	0.27720	1.65;1.66	5.53	5.53	0.82687	.	0.207799	0.41396	D	0.000899	T	0.28995	0.0720	L	0.54323	1.7	0.36899	D	0.890287	B;B	0.27791	0.189;0.167	B;B	0.28011	0.079;0.085	T	0.18555	-1.0333	10	0.07644	T	0.81	-11.2555	15.953	0.79859	1.0:0.0:0.0:0.0	.	200;194	Q9GZP0;Q9GZP0-2	PDGFD_HUMAN;.	A	200;194	ENSP00000376865:V200A;ENSP00000302193:V194A	ENSP00000302193:V194A	V	-	2	0	PDGFD	103319563	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.718000	0.74713	2.236000	0.73375	0.528000	0.53228	GTA		0.418	PDGFD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387231.2	NM_025208		5	43	0	0	0	0	5	43				
KBTBD3	143879	broad.mit.edu	37	11	105924129	105924129	+	Silent	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:105924129A>G	ENST00000526793.1	-	3	1446	c.1287T>C	c.(1285-1287)ccT>ccC	p.P429P	KBTBD3_ENST00000531837.1_Silent_p.P429P|KBTBD3_ENST00000534815.1_Silent_p.P350P	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	425										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		CTTTGGAAAGAGGATTGTAAG	0.383																																						uc001pja.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1285-1287)CCT>CCC		BTB and kelch domain containing 3							45.0	43.0	43.0					11																	105924129		2201	4295	6496	SO:0001819	synonymous_variant	143879							g.chr11:105924129A>G	AK055247	CCDS8334.1	11q22.3	2013-01-08	2003-12-12	2003-12-17		ENSG00000182359		"""BTB/POZ domain containing"""	22934	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 3"""	BKLHD3			Standard	NM_198439		Approved		uc001pjb.3	Q8NAB2		ENST00000526793.1:c.1287T>C	11.37:g.105924129A>G						KBTBD3_uc001pjb.2_Silent_p.P429P|KBTBD3_uc009yxm.2_Silent_p.P350P	p.P429P	NM_198439	NP_940841	Q8NAB2	KBTB3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)	4	1927	-		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	425			Kelch 3.		Q6N066|Q86X38|Q96NK5	Silent	SNP	ENST00000526793.1	37	c.1287T>C	CCDS8334.1																																																																																				0.383	KBTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388705.2	NM_152433		14	97	0	0	0	0	14	97				
AASDHPPT	60496	broad.mit.edu	37	11	105962080	105962080	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:105962080G>A	ENST00000278618.4	+	4	791	c.569G>A	c.(568-570)gGa>gAa	p.G190E	RP11-677I18.3_ENST00000532422.1_RNA	NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase	190					macromolecule biosynthetic process (GO:0009059)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	holo-[acyl-carrier-protein] synthase activity (GO:0008897)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		ATTGGTGTTGGACTAGGATTT	0.353																																						uc001pjc.1		NA																	0					0						c.(568-570)GGA>GAA		aminoadipate-semialdehyde							133.0	141.0	138.0					11																	105962080		2201	4299	6500	SO:0001583	missense	60496				macromolecule biosynthetic process|pantothenate metabolic process	cytosol	holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding	g.chr11:105962080G>A	AF302110	CCDS31664.1	11q22	2010-12-09			ENSG00000149313	ENSG00000149313	1.2.1.31		14235	protein-coding gene	gene with protein product		607756				12815048, 11286508	Standard	NM_015423		Approved	LYS5, CGI-80, AASD-PPT	uc001pjc.1	Q9NRN7	OTTHUMG00000166253	ENST00000278618.4:c.569G>A	11.37:g.105962080G>A	ENSP00000278618:p.Gly190Glu					AASDHPPT_uc010rvn.1_RNA|AASDHPPT_uc001pjd.1_Missense_Mutation_p.G43E	p.G190E	NM_015423	NP_056238	Q9NRN7	ADPPT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)	4	715	+		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	190					B2R6D1|B4DDW7|Q9C068|Q9P0Q3|Q9UG80|Q9Y389	Missense_Mutation	SNP	ENST00000278618.4	37	c.569G>A	CCDS31664.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.938653	0.92526	.	.	ENSG00000149313	ENST00000533423;ENST00000524411;ENST00000278618	.	.	.	5.77	5.77	0.91146	4&apos (3);-phosphopantetheinyl transferase (3);	0.000000	0.85682	D	0.000000	D	0.90003	0.6879	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92462	0.5978	9	0.87932	D	0	.	19.981	0.97324	0.0:0.0:1.0:0.0	.	190	Q9NRN7	ADPPT_HUMAN	E	125;125;190	.	ENSP00000278618:G190E	G	+	2	0	AASDHPPT	105467290	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.498000	0.90492	2.729000	0.93468	0.585000	0.79938	GGA		0.353	AASDHPPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388734.1	NM_015423		18	202	0	0	0	0	18	202				
EXPH5	23086	broad.mit.edu	37	11	108384641	108384641	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:108384641T>A	ENST00000265843.4	-	6	1703	c.1593A>T	c.(1591-1593)gaA>gaT	p.E531D	EXPH5_ENST00000428840.1_Missense_Mutation_p.E455D|EXPH5_ENST00000443411.1_Missense_Mutation_p.E343D|EXPH5_ENST00000525344.1_Missense_Mutation_p.E524D|EXPH5_ENST00000524840.1_5'UTR	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	531					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AAGAAAATGATTCCCAGTGTT	0.413																																						uc001pkk.2		NA																	0				skin(3)|ovary(2)	5						c.(1591-1593)GAA>GAT		exophilin 5 isoform a							71.0	72.0	71.0					11																	108384641		2201	4298	6499	SO:0001583	missense	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108384641T>A		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.1593A>T	11.37:g.108384641T>A	ENSP00000265843:p.Glu531Asp					EXPH5_uc010rvy.1_Missense_Mutation_p.E343D|EXPH5_uc010rvz.1_Missense_Mutation_p.E375D|EXPH5_uc010rwa.1_Missense_Mutation_p.E455D	p.E531D	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	1704	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	531					Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	c.1593A>T	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	T	9.730	1.162093	0.21538	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000439956;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.04119	4.29;4.21;4.06;4.29;4.14;3.7	5.82	0.263	0.15602	.	0.972438	0.08470	N	0.941061	T	0.02929	0.0087	N	0.22421	0.69	0.09310	N	1	P	0.36249	0.545	B	0.32677	0.15	T	0.46373	-0.9196	10	0.17832	T	0.49	0.0162	4.7782	0.13189	0.0:0.3543:0.1617:0.484	.	531	Q8NEV8	EXPH5_HUMAN	D	531;455;343;524;375;455;343	ENSP00000265843:E531D;ENSP00000391966:E455D;ENSP00000411390:E343D;ENSP00000432546:E524D;ENSP00000432683:E455D;ENSP00000446434:E343D	ENSP00000265843:E531D	E	-	3	2	EXPH5	107889851	0.000000	0.05858	0.005000	0.12908	0.787000	0.44495	-0.291000	0.08343	0.033000	0.15463	0.383000	0.25322	GAA		0.413	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		9	133	0	0	0	0	9	133				
SIK3	23387	broad.mit.edu	37	11	116730111	116730111	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:116730111G>A	ENST00000292055.4	-	19	2352	c.2317C>T	c.(2317-2319)Cgc>Tgc	p.R773C	SIK3_ENST00000375288.1_Missense_Mutation_p.R168C|SIK3_ENST00000375300.1_Missense_Mutation_p.R831C|SIK3_ENST00000542607.1_Missense_Mutation_p.R773C|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000446921.2_Missense_Mutation_p.R831C|SIK3_ENST00000434315.2_Missense_Mutation_p.R672C	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	773	Gln-rich.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GAGATGCCGCGCCCACTGGAG	0.597											OREG0003491	type=REGULATORY REGION|Gene=AK022302|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc001ppy.2		NA																	0		p.L773F(1)		ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1)	12						c.(2317-2319)CGC>TGC		serine/threonine-protein kinase QSK							85.0	72.0	76.0					11																	116730111		2201	4296	6497	SO:0001583	missense	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116730111G>A	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.2317C>T	11.37:g.116730111G>A	ENSP00000292055:p.Arg773Cys		OREG0003491	type=REGULATORY REGION|Gene=AK022302|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1475	SIK3_uc001ppz.2_Missense_Mutation_p.R672C|SIK3_uc001pqa.2_Missense_Mutation_p.R773C|SIK3_uc001ppw.2_Missense_Mutation_p.R190C|SIK3_uc001ppx.2_Missense_Mutation_p.R211C|SIK3_uc001pqb.2_Missense_Mutation_p.R76C	p.R773C	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN			19	2353	-			773			Gln-rich.		A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	ENST00000292055.4	37	c.2317C>T	CCDS8379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.25|18.25	3.582192|3.582192	0.65992|0.65992	.|.	.|.	ENSG00000160584|ENSG00000160584	ENST00000445177;ENST00000446921|ENST00000375300;ENST00000292055;ENST00000375288;ENST00000542607;ENST00000434315	.|T;T;T;T;T	.|0.73575	.|-0.73;-0.76;0.72;-0.74;-0.36	5.43|5.43	3.47|3.47	0.39725|0.39725	.|.	.|0.000000	.|0.38111	.|U	.|0.001816	T|T	0.77164|0.77164	0.4090|0.4090	L|L	0.27053|0.27053	0.805|0.805	0.45046|0.45046	D|D	0.998062|0.998062	.|D;D;D;D;D	.|0.89917	.|1.0;0.996;0.984;1.0;0.997	.|D;P;P;D;P	.|0.87578	.|0.998;0.704;0.482;0.995;0.653	T|T	0.77885|0.77885	-0.2421|-0.2421	5|10	.|0.87932	.|D	.|0	.|.	11.9591|11.9591	0.52999|0.52999	0.0:0.0:0.684:0.3159|0.0:0.0:0.684:0.3159	.|.	.|773;773;672;773;168	.|Q9Y2K2-3;A1A5A8;A1A5A9;Q9Y2K2;Q9Y2K2-2	.|.;.;.;SIK3_HUMAN;.	V|C	872;795|831;773;168;773;672	.|ENSP00000364449:R831C;ENSP00000292055:R773C;ENSP00000364437:R168C;ENSP00000438108:R773C;ENSP00000415873:R672C	.|ENSP00000292055:R773C	A|R	-|-	2|1	0|0	SIK3|SIK3	116235321|116235321	1.000000|1.000000	0.71417|0.71417	0.947000|0.947000	0.38551|0.38551	0.763000|0.763000	0.43281|0.43281	6.006000|6.006000	0.70724|0.70724	0.584000|0.584000	0.29591|0.29591	0.561000|0.561000	0.74099|0.74099	GCG|CGC		0.597	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		5	77	0	0	0	0	5	77				
KMT2A	4297	broad.mit.edu	37	11	118352585	118352585	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:118352585C>T	ENST00000389506.5	+	7	3790	c.3790C>T	c.(3790-3792)Cga>Tga	p.R1264*	KMT2A_ENST00000354520.4_Nonsense_Mutation_p.R1264*|KMT2A_ENST00000534358.1_Nonsense_Mutation_p.R1264*			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1264					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										GCCTCCTCCACGAAAGCCCGT	0.542																																						uc001pta.2		NA								T|O					MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL		0				lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25						c.(3790-3792)CGA>TGA		myeloid/lymphoid or mixed-lineage leukemia							97.0	92.0	93.0					11																	118352585		2200	4296	6496	SO:0001587	stop_gained	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118352585C>T	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.3790C>T	11.37:g.118352585C>T	ENSP00000374157:p.Arg1264*					MLL_uc001ptb.2_Nonsense_Mutation_p.R1264*|MLL_uc001pte.1_RNA|MLL_uc009zab.1_Translation_Start_Site	p.R1264*	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	7	3813	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	1264					E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Nonsense_Mutation	SNP	ENST00000389506.5	37	c.3790C>T	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	C	41	9.088119	0.99061	.	.	ENSG00000118058	ENST00000534358;ENST00000531904;ENST00000389506;ENST00000354520;ENST00000359313;ENST00000392873	.	.	.	5.67	5.67	0.87782	.	0.172909	0.40554	N	0.001078	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.6086	0.68498	0.1457:0.8543:0.0:0.0	.	.	.	.	X	1264;1297;1264;1264;174;14	.	ENSP00000346516:R1264X	R	+	1	2	MLL	117857795	0.966000	0.33281	0.140000	0.22221	0.502000	0.33828	2.779000	0.47734	2.680000	0.91292	0.563000	0.77884	CGA		0.542	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		9	87	0	0	0	0	9	87				
TTC36	143941	broad.mit.edu	37	11	118398294	118398294	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:118398294G>A	ENST00000302783.4	+	1	108	c.85G>A	c.(85-87)Gga>Aga	p.G29R	RP11-770J1.3_ENST00000528578.1_RNA|RP11-770J1.3_ENST00000532597.1_RNA|TTC36_ENST00000539546.1_5'UTR|RP11-770J1.3_ENST00000554407.1_RNA|RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000556583.1_RNA	NM_001080441.1	NP_001073910.1	A6NLP5	TTC36_HUMAN	tetratricopeptide repeat domain 36	29										lung(2)	2						ATTGGACCTCGGAGAGGAAGC	0.537																																						uc001ptg.1		NA																	0					0						c.(85-87)GGA>AGA		tetratricopeptide repeat domain 36							229.0	228.0	228.0					11																	118398294		2200	4295	6495	SO:0001583	missense	143941						binding	g.chr11:118398294G>A	EU489483	CCDS31687.1	11q23.3	2013-01-10			ENSG00000172425	ENSG00000172425		"""Tetratricopeptide (TTC) repeat domain containing"""	33708	protein-coding gene	gene with protein product	"""HSP70 binding protein 21"""						Standard	NM_001080441		Approved	HBP21	uc001ptg.1	A6NLP5	OTTHUMG00000166338	ENST00000302783.4:c.85G>A	11.37:g.118398294G>A	ENSP00000307640:p.Gly29Arg					TTC36_uc010ryb.1_RNA|TTC36_uc010ryc.1_5'UTR	p.G29R	NM_001080441	NP_001073910	A6NLP5	TTC36_HUMAN			1	85	+			29					B7ZW72|B9EJD8	Missense_Mutation	SNP	ENST00000302783.4	37	c.85G>A	CCDS31687.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.492969	0.26774	.	.	ENSG00000172425	ENST00000302783	T	0.31247	1.5	5.53	4.61	0.57282	.	0.491569	0.23386	N	0.048757	T	0.29914	0.0748	L	0.60455	1.87	0.80722	D	1	B	0.28605	0.217	B	0.24394	0.053	T	0.05566	-1.0877	10	0.17369	T	0.5	-0.0304	15.6761	0.77326	0.0:0.0:0.8616:0.1384	.	29	A6NLP5	TTC36_HUMAN	R	29	ENSP00000307640:G29R	ENSP00000307640:G29R	G	+	1	0	TTC36	117903504	1.000000	0.71417	0.776000	0.31678	0.274000	0.26718	5.008000	0.63991	1.295000	0.44724	0.563000	0.77884	GGA		0.537	TTC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389241.2	NM_001080441		24	291	0	0	0	0	24	291				
CCDC77	84318	broad.mit.edu	37	12	551063	551063	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:551063G>C	ENST00000239830.4	+	13	1623	c.1444G>C	c.(1444-1446)Gag>Cag	p.E482Q	CCDC77_ENST00000422000.1_Missense_Mutation_p.E450Q|CCDC77_ENST00000412006.2_Missense_Mutation_p.E450Q|CCDC77_ENST00000540180.1_Missense_Mutation_p.E450Q	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77	482						centrosome (GO:0005813)|membrane (GO:0016020)				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			GTTTGGTCTGGAGAATGAACT	0.458																																						uc001qig.2		NA																	0				ovary(1)	1						c.(1444-1446)GAG>CAG		coiled-coil domain containing 77 isoform a							164.0	149.0	154.0					12																	551063		2203	4300	6503	SO:0001583	missense	84318					centrosome		g.chr12:551063G>C	AK027638	CCDS8503.1, CCDS44781.1	12p13.33	2006-02-16			ENSG00000120647	ENSG00000120647			28203	protein-coding gene	gene with protein product						12477932	Standard	NM_001130148		Approved	MGC13183	uc001qig.3	Q9BR77	OTTHUMG00000129214	ENST00000239830.4:c.1444G>C	12.37:g.551063G>C	ENSP00000239830:p.Glu482Gln					CCDC77_uc009zdk.2_Missense_Mutation_p.E450Q|CCDC77_uc010sdp.1_Missense_Mutation_p.E450Q|CCDC77_uc010sdq.1_Missense_Mutation_p.E450Q	p.E482Q	NM_032358	NP_115734	Q9BR77	CCD77_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)		13	1624	+	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		482			Potential.		B4DDE8	Missense_Mutation	SNP	ENST00000239830.4	37	c.1444G>C	CCDS8503.1	.	.	.	.	.	.	.	.	.	.	G	31	5.061324	0.93846	.	.	ENSG00000120647	ENST00000540180;ENST00000422000;ENST00000239830;ENST00000412006	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.69628	0.3132	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.71699	-0.4514	10	0.56958	D	0.05	-27.9056	19.8426	0.96695	0.0:0.0:1.0:0.0	.	482	Q9BR77	CCD77_HUMAN	Q	450;450;482;450	ENSP00000440554:E450Q;ENSP00000391870:E450Q;ENSP00000239830:E482Q;ENSP00000412925:E450Q	ENSP00000239830:E482Q	E	+	1	0	CCDC77	421324	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.850000	0.92190	2.759000	0.94783	0.563000	0.77884	GAG		0.458	CCDC77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251296.1	NM_032358		16	295	0	0	0	0	16	295				
LAG3	3902	broad.mit.edu	37	12	6886563	6886563	+	Nonsense_Mutation	SNP	G	G	A	rs61731925		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:6886563G>A	ENST00000203629.2	+	6	1524	c.1191G>A	c.(1189-1191)tgG>tgA	p.W397*		NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	397	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell activation (GO:0050868)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|MHC class II protein binding (GO:0042289)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CAGGACCTTGGCTGGAGGCAC	0.572																																						uc001qqt.3		NA																	0					0						c.(1189-1191)TGG>TGA		lymphocyte-activation protein 3 precursor							102.0	94.0	97.0					12																	6886563		2203	4300	6503	SO:0001587	stop_gained	3902					integral to membrane	antigen binding|MHC class II protein binding	g.chr12:6886563G>A		CCDS8561.1	12p13.3	2013-01-11			ENSG00000089692	ENSG00000089692		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6476	protein-coding gene	gene with protein product		153337					Standard	NM_002286		Approved	CD223	uc001qqt.4	P18627	OTTHUMG00000169197	ENST00000203629.2:c.1191G>A	12.37:g.6886563G>A	ENSP00000203629:p.Trp397*					LAG3_uc001qqu.2_Nonsense_Mutation_p.W227*	p.W397*	NM_002286	NP_002277	P18627	LAG3_HUMAN			6	1540	+			397			Extracellular (Potential).|Ig-like C2-type 3.		A8K7T9|Q7Z643	Nonsense_Mutation	SNP	ENST00000203629.2	37	c.1191G>A	CCDS8561.1	.	.	.	.	.	.	.	.	.	.	G	35	5.562152	0.96527	.	.	ENSG00000089692	ENST00000203629	.	.	.	4.76	3.86	0.44501	.	0.970104	0.08501	N	0.936444	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-0.5711	10.2309	0.43253	0.0:0.0:0.8023:0.1976	rs61731925	.	.	.	X	397	.	ENSP00000203629:W397X	W	+	3	0	LAG3	6756824	1.000000	0.71417	1.000000	0.80357	0.128000	0.20619	2.703000	0.47110	1.215000	0.43411	0.561000	0.74099	TGG		0.572	LAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402846.1			16	167	0	0	0	0	16	167				
PRH2	5555	broad.mit.edu	37	12	11083308	11083308	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:11083308C>A	ENST00000396400.3	+	3	186	c.148C>A	c.(148-150)Cct>Act	p.P50T	PRH2_ENST00000381847.3_Missense_Mutation_p.P50T|PRR4_ENST00000536668.1_Intron	NM_001110213.1	NP_001103683.1	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 2	50						extracellular space (GO:0005615)				breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	13						TCAGGGACCACCTTTGGGAGG	0.547																																						uc009zhr.2		NA																	0					0						c.(148-150)CCT>ACT		proline-rich protein HaeIII subfamily 2							116.0	137.0	130.0					12																	11083308		2203	4300	6503	SO:0001583	missense	5555					extracellular space	protein binding	g.chr12:11083308C>A		CCDS8636.1	12p13.2	2012-10-02				ENSG00000134551			9367	protein-coding gene	gene with protein product	"""parotid proline-rich protein"", ""acidic salivary proline-rich protein, HaeIII type, 2"""	168790				3009472	Standard	NM_005042		Approved	Pr	uc001qzi.4	P02810		ENST00000396400.3:c.148C>A	12.37:g.11083308C>A	ENSP00000379682:p.Pro50Thr					PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH2_uc001qzh.2_Missense_Mutation_p.P50T|PRH2_uc001qzi.3_Missense_Mutation_p.P50T	p.P50T	NM_001110213	NP_001103683	P02810	PRPC_HUMAN			3	186	+			50					A2VCM0|A3KN66|A5D902|B2RMW2|Q4VBP2|Q53XA2|Q6P2F6	Missense_Mutation	SNP	ENST00000396400.3	37	c.148C>A	CCDS8636.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.280132	0.23392	.	.	ENSG00000134551	ENST00000381847;ENST00000396400	T;T	0.09630	2.96;2.96	1.24	-1.2	0.09554	.	0.191729	0.22301	U	0.061880	T	0.07954	0.0199	M	0.75615	2.305	0.09310	N	1	P	0.44659	0.84	B	0.30251	0.113	T	0.24835	-1.0149	10	0.62326	D	0.03	.	2.6519	0.05002	0.0:0.4648:0.3074:0.2279	.	50	P02810	PRPC_HUMAN	T	50	ENSP00000371271:P50T;ENSP00000379682:P50T	ENSP00000371271:P50T	P	+	1	0	PRH2	10974575	0.000000	0.05858	0.012000	0.15200	0.022000	0.10575	-0.556000	0.05992	-0.367000	0.08052	-0.498000	0.04607	CCT		0.547	PRH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400231.1	NM_001110213		20	232	1	0	5.04e-11	5.49e-11	20	232				
TAS2R46	259292	broad.mit.edu	37	12	11214111	11214111	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:11214111G>A	ENST00000533467.1	-	1	782	c.783C>T	c.(781-783)ttC>ttT	p.F261F	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	261					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		CGCAGAACATGAAGACAGGTT	0.408																																						uc001qzp.1		NA																	0				ovary(1)	1						c.(781-783)TTC>TTT		taste receptor, type 2, member 46							194.0	203.0	200.0					12																	11214111		2198	4300	6498	SO:0001819	synonymous_variant	259292				sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity	g.chr12:11214111G>A	AF494227	CCDS53748.1	12p13.2	2012-08-22				ENSG00000226761		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18877	protein-coding gene	gene with protein product		612774				12379855	Standard	NM_176887		Approved	T2R54	uc001qzp.1	P59540		ENST00000533467.1:c.783C>T	12.37:g.11214111G>A						PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	p.F261F	NM_176887	NP_795368	P59540	T2R46_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)	1	783	-			261			Helical; Name=7; (Potential).		P59548|Q645X6	Silent	SNP	ENST00000533467.1	37	c.783C>T	CCDS53748.1																																																																																				0.408	TAS2R46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383559.1	NM_176887		34	285	0	0	0	0	34	285				
TAS2R46	259292	broad.mit.edu	37	12	11214216	11214216	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:11214216T>G	ENST00000533467.1	-	1	677	c.678A>C	c.(676-678)aaA>aaC	p.K226N	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	226					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		TTTGCAAAGCTTTTATGTGGA	0.403																																						uc001qzp.1		NA																	0				ovary(1)	1						c.(676-678)AAA>AAC		taste receptor, type 2, member 46							190.0	196.0	194.0					12																	11214216		2203	4299	6502	SO:0001583	missense	259292				sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity	g.chr12:11214216T>G	AF494227	CCDS53748.1	12p13.2	2012-08-22				ENSG00000226761		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18877	protein-coding gene	gene with protein product		612774				12379855	Standard	NM_176887		Approved	T2R54	uc001qzp.1	P59540		ENST00000533467.1:c.678A>C	12.37:g.11214216T>G	ENSP00000436450:p.Lys226Asn					PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	p.K226N	NM_176887	NP_795368	P59540	T2R46_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)	1	678	-			226			Cytoplasmic (Potential).		P59548|Q645X6	Missense_Mutation	SNP	ENST00000533467.1	37	c.678A>C	CCDS53748.1	.	.	.	.	.	.	.	.	.	.	T	10.85	1.467458	0.26335	.	.	ENSG00000226761	ENST00000533467	T	0.37235	1.21	2.54	2.54	0.30619	.	.	.	.	.	T	0.42359	0.1199	M	0.76170	2.325	0.09310	N	1	P	0.37441	0.595	B	0.43575	0.424	T	0.24297	-1.0164	9	0.33141	T	0.24	.	8.5848	0.33651	0.0:0.0:0.0:1.0	.	226	P59540	T2R46_HUMAN	N	226	ENSP00000436450:K226N	ENSP00000436450:K226N	K	-	3	2	TAS2R46	11105483	0.002000	0.14202	0.006000	0.13384	0.105000	0.19272	-0.044000	0.12023	1.181000	0.42912	0.163000	0.16589	AAA		0.403	TAS2R46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383559.1	NM_176887		23	303	0	0	0	0	23	303				
LRP6	4040	broad.mit.edu	37	12	12274078	12274078	+	Silent	SNP	G	G	A	rs373846931		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:12274078G>A	ENST00000261349.4	-	23	4900	c.4824C>T	c.(4822-4824)ccC>ccT	p.P1608P	BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000543091.1_Silent_p.P1563P	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1608					anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				AGTCTGTACAGGGAGAGGGTG	0.527																																						uc001rah.3		NA																	0				lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1)	12						c.(4822-4824)CCC>CCT		low density lipoprotein receptor-related protein							83.0	70.0	74.0					12																	12274078		2203	4300	6503	SO:0001819	synonymous_variant	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12274078G>A	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.4824C>T	12.37:g.12274078G>A						BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Silent_p.P1563P	p.P1608P	NM_002336	NP_002327	O75581	LRP6_HUMAN			23	4966	-		Prostate(47;0.0865)	1608			Cytoplasmic (Potential).|PPPSP motif E.		Q17RZ2	Silent	SNP	ENST00000261349.4	37	c.4824C>T	CCDS8647.1																																																																																				0.527	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			5	54	0	0	0	0	5	54				
KRAS	3845	broad.mit.edu	37	12	25368473	25368473	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:25368473T>C	ENST00000256078.4	-	5	535	c.472A>G	c.(472-474)Aca>Gca	p.T158A	KRAS_ENST00000311936.3_Intron|KRAS_ENST00000557334.1_Intron	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	158					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)		UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CTCACCAATGTATAAAAAGCA	0.353		119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	uc001rgp.1		119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			pancreatic|colorectal|lung|thyroid|AML|others		0				large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052						c.(472-474)ACA>GCA		c-K-ras2 protein isoform a precursor							111.0	107.0	108.0					12																	25368473		2203	4300	6503	SO:0001583	missense	3845	Cardiofaciocutaneous_syndrome|Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25368473T>C	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.472A>G	12.37:g.25368473T>C	ENSP00000256078:p.Thr158Ala	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_uc001rgq.1_Intron	p.T158A	NM_033360	NP_203524	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		5	653	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		158					A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.472A>G	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	T	16.24	3.067452	0.55539	.	.	ENSG00000133703	ENST00000256078	T	0.69435	-0.4	5.9	5.9	0.94986	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.52789	0.1756	N	0.16307	0.4	0.80722	D	1	B	0.14805	0.011	B	0.19666	0.026	T	0.47661	-0.9100	10	0.33141	T	0.24	.	15.5044	0.75725	0.0:0.0:0.0:1.0	.	158	P01116	RASK_HUMAN	A	158	ENSP00000256078:T158A	ENSP00000256078:T158A	T	-	1	0	KRAS	25259740	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.652000	0.83633	2.254000	0.74563	0.482000	0.46254	ACA		0.353	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		10	128	0	0	0	0	10	128				
KIF21A	55605	broad.mit.edu	37	12	39735313	39735313	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:39735313C>G	ENST00000361418.5	-	14	1930	c.1915G>C	c.(1915-1917)Gaa>Caa	p.E639Q	KIF21A_ENST00000544797.2_Missense_Mutation_p.E626Q|KIF21A_ENST00000361961.3_Missense_Mutation_p.E626Q|KIF21A_ENST00000395670.3_Missense_Mutation_p.E639Q|KIF21A_ENST00000541463.2_Missense_Mutation_p.E626Q			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	639					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GTACCTTTTTCATCTGATTCA	0.383																																						uc001rly.2		NA																	0				ovary(4)|pancreas(1)|lung(1)|skin(1)	7						c.(1915-1917)GAA>CAA		kinesin family member 21A							108.0	106.0	107.0					12																	39735313		2203	4300	6503	SO:0001583	missense	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39735313C>G	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.1915G>C	12.37:g.39735313C>G	ENSP00000354878:p.Glu639Gln					KIF21A_uc001rlw.2_5'Flank|KIF21A_uc001rlx.2_Missense_Mutation_p.E626Q|KIF21A_uc001rlz.2_Missense_Mutation_p.E626Q|KIF21A_uc010skl.1_Missense_Mutation_p.E626Q	p.E639Q	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN			14	2061	-		Lung NSC(34;0.179)|all_lung(34;0.213)	639					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	c.1915G>C	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.715145	0.89112	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	5.68	5.68	0.88126	.	0.000000	0.51477	D	0.000090	T	0.59266	0.2181	M	0.79123	2.44	0.58432	D	0.999999	D;D;D;D	0.71674	0.994;0.998;0.997;0.996	D;D;D;P	0.75484	0.938;0.957;0.986;0.851	T	0.57136	-0.7863	10	0.42905	T	0.14	.	19.7873	0.96444	0.0:1.0:0.0:0.0	.	626;626;639;626	F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2	.;.;KI21A_HUMAN;.	Q	626;639;639;626;639;626	ENSP00000354851:E626Q;ENSP00000379029:E639Q;ENSP00000445606:E626Q;ENSP00000354878:E639Q;ENSP00000438075:E626Q	ENSP00000344501:E639Q	E	-	1	0	KIF21A	38021580	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	6.779000	0.75057	2.673000	0.90976	0.655000	0.94253	GAA		0.383	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		7	104	0	0	0	0	7	104				
SCAF11	9169	broad.mit.edu	37	12	46322292	46322292	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:46322292C>G	ENST00000369367.3	-	11	1425	c.1192G>C	c.(1192-1194)Gaa>Caa	p.E398Q	SCAF11_ENST00000419565.2_Missense_Mutation_p.E398Q|SCAF11_ENST00000549162.1_Missense_Mutation_p.E206Q|SCAF11_ENST00000465950.1_Missense_Mutation_p.E83Q	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	398					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GATGATTTTTCAGGGGCAGCT	0.408																																						uc001rox.2		NA																	0					0						c.(1192-1194)GAA>CAA		splicing factor, arginine/serine-rich 2,							111.0	107.0	109.0					12																	46322292		2203	4300	6503	SO:0001583	missense	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46322292C>G	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.1192G>C	12.37:g.46322292C>G	ENSP00000358374:p.Glu398Gln					SFRS2IP_uc001row.2_Missense_Mutation_p.E83Q|SFRS2IP_uc001roy.1_Missense_Mutation_p.E472Q	p.E398Q	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)	11	1479	-	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	398					A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	37	c.1192G>C	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	C	20.7	4.035847	0.75617	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565;ENST00000547018	T;T;T;T;T	0.52526	1.29;2.03;1.3;2.03;0.66	6.08	6.08	0.98989	.	0.244791	0.36167	N	0.002759	T	0.56247	0.1972	L	0.32530	0.975	0.29339	N	0.866181	D;D	0.67145	0.996;0.981	P;P	0.61658	0.892;0.69	T	0.54105	-0.8343	10	0.49607	T	0.09	-14.3293	16.8679	0.86033	0.0:0.872:0.128:0.0	.	206;398	F8VXG7;Q99590	.;SCAFB_HUMAN	Q	83;398;206;398;338	ENSP00000449812:E83Q;ENSP00000358374:E398Q;ENSP00000448864:E206Q;ENSP00000413036:E398Q;ENSP00000446746:E338Q	ENSP00000358374:E398Q	E	-	1	0	SCAF11	44608559	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	2.078000	0.41567	2.894000	0.99253	0.591000	0.81541	GAA		0.408	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		26	194	0	0	0	0	26	194				
CCDC65	85478	broad.mit.edu	37	12	49312494	49312494	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:49312494G>C	ENST00000320516.4	+	6	1022	c.834G>C	c.(832-834)aaG>aaC	p.K278N	RP11-302B13.5_ENST00000398092.4_Intron|CCDC65_ENST00000266984.5_Missense_Mutation_p.K278N	NM_033124.4	NP_149115.2	Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	278										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						CAAAAGGCAAGATCATGATAC	0.433																																						uc001rso.2		NA																	0				ovary(1)|skin(1)	2						c.(832-834)AAG>AAC		coiled-coil domain containing 65							97.0	86.0	90.0					12																	49312494		2203	4300	6503	SO:0001583	missense	85478							g.chr12:49312494G>C		CCDS8772.1	12q13.12	2014-07-18			ENSG00000139537	ENSG00000139537			29937	protein-coding gene	gene with protein product		611088				17089017, 21700706	Standard	NM_033124		Approved	NYD-SP28, FLJ35732, FAP250, CILD27	uc001rso.3	Q8IXS2		ENST00000320516.4:c.834G>C	12.37:g.49312494G>C	ENSP00000312706:p.Lys278Asn						p.K278N	NM_033124	NP_149115	Q8IXS2	CCD65_HUMAN			6	1061	+			278					A6NJG5|B2RBE2|Q8N7G4|Q8NA91|Q96JA0	Missense_Mutation	SNP	ENST00000320516.4	37	c.834G>C	CCDS8772.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310869	0.60414	.	.	ENSG00000139537	ENST00000266984;ENST00000552942;ENST00000320516	T;T;T	0.53206	1.1;0.63;1.11	4.72	1.82	0.25136	.	0.290858	0.35436	N	0.003205	T	0.58481	0.2125	L	0.57536	1.79	0.32247	N	0.571901	D	0.76494	0.999	D	0.68192	0.956	T	0.64935	-0.6290	10	0.52906	T	0.07	-30.6559	9.4659	0.38813	0.2627:0.0:0.7373:0.0	.	278	Q8IXS2	CCD65_HUMAN	N	278;175;278	ENSP00000266984:K278N;ENSP00000446569:K175N;ENSP00000312706:K278N	ENSP00000266984:K278N	K	+	3	2	CCDC65	47598761	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	1.191000	0.32138	0.683000	0.31428	0.655000	0.94253	AAG		0.433	CCDC65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408922.1	NM_033124		8	70	0	0	0	0	8	70				
CERS5	91012	broad.mit.edu	37	12	50536932	50536932	+	Missense_Mutation	SNP	C	C	T	rs146511812		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:50536932C>T	ENST00000317551.6	-	3	483	c.359G>A	c.(358-360)cGa>cAa	p.R120Q	CERS5_ENST00000422340.2_Missense_Mutation_p.R62Q	NM_147190.2	NP_671723.1	Q8N5B7	CERS5_HUMAN	ceramide synthase 5	120					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										TTGGATTTTTCGGACATTCCA	0.493																																						uc001rwd.3		NA																	0					0						c.(358-360)CGA>CAA		LAG1 homolog, ceramide synthase 5		C	GLN/ARG	0,4406		0,0,2203	176.0	182.0	180.0		359	3.6	1.0	12	dbSNP_134	180	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CERS5	NM_147190.2	43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	120/393	50536932	2,13004	2203	4300	6503	SO:0001583	missense	91012				ceramide biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr12:50536932C>T		CCDS8801.1, CCDS61120.1	12q13.12	2014-09-04	2011-07-08	2011-07-08	ENSG00000139624			"""Homeoboxes / CERS class"""	23749	protein-coding gene	gene with protein product		615335	"""LAG1 longevity assurance homolog 5 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 5"""	LASS5			Standard	NM_147190		Approved	Trh4, MGC45411, FLJ25304	uc001rwd.4	Q8N5B7	OTTHUMG00000169819	ENST00000317551.6:c.359G>A	12.37:g.50536932C>T	ENSP00000325485:p.Arg120Gln					LASS5_uc001rwc.2_Missense_Mutation_p.R39Q|LASS5_uc001rwe.3_Missense_Mutation_p.R61Q|LASS5_uc001rwf.3_RNA|LASS5_uc010smq.1_5'UTR	p.R120Q	NM_147190	NP_671723	Q8N5B7	CERS5_HUMAN			3	376	-			120			Cytoplasmic (Potential).|Homeobox.		B4DV54	Missense_Mutation	SNP	ENST00000317551.6	37	c.359G>A	CCDS8801.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.8|29.8	5.033215|5.033215	0.93575|0.93575	0.0|0.0	2.33E-4|2.33E-4	ENSG00000139624|ENSG00000139624	ENST00000547800|ENST00000551005;ENST00000317551;ENST00000422340	.|D;D;D	.|0.96651	.|-4.08;-4.08;-4.08	4.52|4.52	3.63|3.63	0.41609|0.41609	.|Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	.|0.000000	.|0.64402	.|D	.|0.000001	D|D	0.97736|0.97736	0.9257|0.9257	M|M	0.83483|0.83483	2.645|2.645	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.994;1.0	.|D;P;D	.|0.81914	.|0.995;0.903;0.994	D|D	0.97198|0.97198	0.9862|0.9862	6|10	0.10377|0.34782	T|T	0.69|0.22	-1.3597|-1.3597	13.2248|13.2248	0.59909|0.59909	0.0:0.9225:0.0:0.0775|0.0:0.9225:0.0:0.0775	.|.	.|62;120;39	.|B4DV54;Q8N5B7;F8W0U5	.|.;CERS5_HUMAN;.	K|Q	55|39;120;62	.|ENSP00000447556:R39Q;ENSP00000325485:R120Q;ENSP00000389050:R62Q	ENSP00000407896:E85K|ENSP00000325485:R120Q	E|R	-|-	1|2	0|0	CERS5|CERS5	48823199|48823199	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	5.915000|5.915000	0.69973|0.69973	1.278000|1.278000	0.44430|0.44430	-0.128000|-0.128000	0.14901|0.14901	GAA|CGA		0.493	CERS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406069.3	NM_147190		38	428	0	0	0	0	38	428				
KRT75	9119	broad.mit.edu	37	12	52824378	52824378	+	Missense_Mutation	SNP	C	C	T	rs143629874		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:52824378C>T	ENST00000252245.5	-	5	1202	c.982G>A	c.(982-984)Gag>Aag	p.E328K	RP11-1020M18.10_ENST00000548135.1_RNA	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	328	Coil 2.|Rod.				hematopoietic progenitor cell differentiation (GO:0002244)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		GCAATGTCCTCGTATTGTGCT	0.572																																						uc001saj.2		NA																	0					0						c.(982-984)GAG>AAG		keratin 75		C	LYS/GLU	0,4406		0,0,2203	206.0	176.0	186.0		982	4.8	1.0	12	dbSNP_134	186	1,8599	1.2+/-3.3	0,1,4299	no	missense	KRT75	NM_004693.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	328/552	52824378	1,13005	2203	4300	6503	SO:0001583	missense	9119					keratin filament	structural molecule activity	g.chr12:52824378C>T	Y19212	CCDS8827.1	12q13.13	2013-06-25			ENSG00000170454	ENSG00000170454		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24431	protein-coding gene	gene with protein product		609025				9856802, 10692104, 16831889	Standard	NM_004693		Approved	K6HF	uc001saj.2	O95678	OTTHUMG00000169592	ENST00000252245.5:c.982G>A	12.37:g.52824378C>T	ENSP00000252245:p.Glu328Lys						p.E328K	NM_004693	NP_004684	O95678	K2C75_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.192)	5	1004	-			328			Coil 2.|Rod.		B4DQU4|Q9NSA9	Missense_Mutation	SNP	ENST00000252245.5	37	c.982G>A	CCDS8827.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.960892	0.92791	0.0	1.16E-4	ENSG00000170454	ENST00000252245	D	0.93076	-3.16	5.73	4.84	0.62591	Prefoldin (1);Filament (1);	0.000000	0.53938	D	0.000043	D	0.97660	0.9233	H	0.95679	3.705	0.48830	D	0.99971	D	0.89917	1.0	D	0.83275	0.996	D	0.98713	1.0705	10	0.87932	D	0	.	14.9338	0.70938	0.0:0.9312:0.0:0.0688	.	328	O95678	K2C75_HUMAN	K	328	ENSP00000252245:E328K	ENSP00000252245:E328K	E	-	1	0	KRT75	51110645	1.000000	0.71417	0.989000	0.46669	0.874000	0.50279	4.854000	0.62918	1.425000	0.47237	0.655000	0.94253	GAG		0.572	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404968.1	NM_004693		15	275	0	0	0	0	15	275				
KRT4	3851	broad.mit.edu	37	12	53200995	53200995	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:53200995C>T	ENST00000551956.1	-	9	1913	c.1421G>A	c.(1420-1422)gGa>gAa	p.G474E	KRT4_ENST00000293774.4_Missense_Mutation_p.G548E|KRT4_ENST00000458244.2_Missense_Mutation_p.G454E			P19013	K2C4_HUMAN	keratin 4	488	Ser-rich.|Tail.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						TCCTAATCCTCCGCTGATGCC	0.577																																					Pancreas(190;284 2995 41444 45903)	uc001saz.2		NA																	0				ovary(4)|skin(2)	6						c.(1642-1644)GGA>GAA		keratin 4							73.0	83.0	80.0					12																	53200995		2114	4252	6366	SO:0001583	missense	3851					keratin filament	structural molecule activity	g.chr12:53200995C>T		CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6441	protein-coding gene	gene with protein product	"""cytokeratin 4"", ""keratin, type II cytoskeletal 4"""	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.1421G>A	12.37:g.53200995C>T	ENSP00000448220:p.Gly474Glu						p.G548E	NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN			9	1914	-			474					F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Missense_Mutation	SNP	ENST00000551956.1	37	c.1643G>A	CCDS41787.2	.	.	.	.	.	.	.	.	.	.	C	16.69	3.194457	0.58017	.	.	ENSG00000170477	ENST00000551956;ENST00000293774;ENST00000458244	D;D;D	0.97352	-4.35;-2.72;-2.72	4.46	4.46	0.54185	.	0.376534	0.19490	N	0.113012	D	0.96568	0.8880	L	0.48362	1.52	0.35972	D	0.835421	D	0.59767	0.986	P	0.51918	0.684	D	0.99853	1.1074	10	0.87932	D	0	.	16.6673	0.85256	0.0:1.0:0.0:0.0	.	488	P19013	K2C4_HUMAN	E	474;548;454	ENSP00000448220:G474E;ENSP00000293774:G548E;ENSP00000387904:G454E	ENSP00000293774:G548E	G	-	2	0	KRT4	51487262	0.713000	0.27926	0.934000	0.37439	0.034000	0.12701	1.499000	0.35671	2.486000	0.83907	0.561000	0.74099	GGA		0.577	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272		7	63	0	0	0	0	7	63				
HOXC13	3229	broad.mit.edu	37	12	54338828	54338828	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:54338828C>T	ENST00000243056.3	+	2	937	c.781C>T	c.(781-783)Cgc>Tgc	p.R261C		NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	261					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|hair follicle development (GO:0001942)|nail development (GO:0035878)|tongue morphogenesis (GO:0043587)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			breast(1)|large_intestine(1)|skin(1)	3						CCGGCGCGGGCGCAAGAAACG	0.602			T	NUP98	AML																																	uc001sei.2		NA		Dom	yes		12	12q13.3	3229	T	homeo box C13			L	NUP98		AML		0				breast(1)	1						c.(781-783)CGC>TGC		homeobox C13							75.0	82.0	80.0					12																	54338828		2203	4300	6503	SO:0001583	missense	3229					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54338828C>T		CCDS8865.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123364	ENSG00000123364		"""Homeoboxes / ANTP class : HOXL subclass"""	5125	protein-coding gene	gene with protein product		142976	"""homeo box C13"""	HOX3, HOX3G		1973146, 1358459	Standard	NM_017410		Approved		uc001sei.3	P31276	OTTHUMG00000160008	ENST00000243056.3:c.781C>T	12.37:g.54338828C>T	ENSP00000243056:p.Arg261Cys					HOXC13_uc010sop.1_RNA	p.R261C	NM_017410	NP_059106	P31276	HXC13_HUMAN			2	896	+			261			Homeobox.		Q5BL02|Q96J32|Q9NR24|Q9NYD5	Missense_Mutation	SNP	ENST00000243056.3	37	c.781C>T	CCDS8865.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.668357	0.88348	.	.	ENSG00000123364	ENST00000243056	D	0.97352	-4.35	4.95	4.95	0.65309	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99149	0.9706	H	0.99379	4.54	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98329	1.0532	10	0.87932	D	0	.	12.5597	0.56273	0.1666:0.8334:0.0:0.0	.	261	P31276	HXC13_HUMAN	C	261	ENSP00000243056:R261C	ENSP00000243056:R261C	R	+	1	0	HOXC13	52625095	0.983000	0.35010	1.000000	0.80357	0.948000	0.59901	2.369000	0.44231	2.755000	0.94549	0.655000	0.94253	CGC		0.602	HOXC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358865.2			21	197	0	0	0	0	21	197				
NFE2	4778	broad.mit.edu	37	12	54686499	54686499	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:54686499C>T	ENST00000540264.2	-	2	1290	c.781G>A	c.(781-783)Gag>Aag	p.E261K	NFE2_ENST00000312156.4_Missense_Mutation_p.E261K|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000435572.2_Missense_Mutation_p.E261K|NFE2_ENST00000553070.1_Missense_Mutation_p.E261K			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	261					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|hemostasis (GO:0007599)|labyrinthine layer blood vessel development (GO:0060716)|multicellular organismal development (GO:0007275)|negative regulation of bone mineralization (GO:0030502)|negative regulation of syncytium formation by plasma membrane fusion (GO:0034242)|nucleosome disassembly (GO:0006337)|positive regulation of peptidyl-lysine acetylation (GO:2000758)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						AGCTGGCTCTCTGTCAGCGGG	0.542																																						uc009znk.2		NA																	0					0						c.(781-783)GAG>AAG		nuclear factor, erythroid derived 2 isoform 1							47.0	44.0	45.0					12																	54686499		2203	4300	6503	SO:0001583	missense	4778				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding	g.chr12:54686499C>T	BC005044	CCDS8876.1	12q13	2013-08-23	2013-08-23			ENSG00000123405		"""basic leucine zipper proteins"""	7780	protein-coding gene	gene with protein product		601490	"""nuclear factor (erythroid-derived 2), 45kD"", ""nuclear factor (erythroid-derived 2), 45kDa"""			8355703	Standard	NM_001136023		Approved	NF-E2	uc001sfr.5	Q16621		ENST00000540264.2:c.781G>A	12.37:g.54686499C>T	ENSP00000439120:p.Glu261Lys					NFE2_uc001sfq.2_Missense_Mutation_p.E261K|NFE2_uc001sfr.3_Missense_Mutation_p.E261K|NFE2_uc009znl.2_Missense_Mutation_p.E261K	p.E261K	NM_006163	NP_006154	Q16621	NFE2_HUMAN			2	1291	-			261					Q07720|Q6ICV9	Missense_Mutation	SNP	ENST00000540264.2	37	c.781G>A	CCDS8876.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.632558	0.87660	.	.	ENSG00000123405	ENST00000312156;ENST00000435572;ENST00000540264;ENST00000553070;ENST00000553198	D;D;D;D;D	0.91631	-2.88;-2.88;-2.88;-2.88;-2.88	5.42	5.42	0.78866	Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);	0.109610	0.64402	D	0.000014	D	0.89354	0.6691	L	0.48362	1.52	0.80722	D	1	P	0.34562	0.457	B	0.31390	0.129	D	0.89615	0.3844	10	0.87932	D	0	-6.23	17.0946	0.86631	0.0:1.0:0.0:0.0	.	261	Q16621	NFE2_HUMAN	K	261	ENSP00000312436:E261K;ENSP00000397185:E261K;ENSP00000439120:E261K;ENSP00000447558:E261K;ENSP00000446929:E261K	ENSP00000312436:E261K	E	-	1	0	NFE2	52972766	1.000000	0.71417	0.990000	0.47175	0.999000	0.98932	7.818000	0.86416	2.711000	0.92665	0.655000	0.94253	GAG		0.542	NFE2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405747.1	NM_006163		15	82	0	0	0	0	15	82				
COPZ1	22818	broad.mit.edu	37	12	54741612	54741612	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:54741612G>A	ENST00000262061.2	+	6	416	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	COPZ1_ENST00000552362.1_Missense_Mutation_p.E127K|COPZ1_ENST00000553231.1_Missense_Mutation_p.E104K|COPZ1_ENST00000548281.1_3'UTR|COPZ1_ENST00000549043.1_Missense_Mutation_p.E135K|RN7SL744P_ENST00000577604.1_RNA|RP11-968A15.8_ENST00000553061.1_RNA|COPZ1_ENST00000416254.2_Missense_Mutation_p.E76K|COPZ1_ENST00000548753.1_Missense_Mutation_p.E39K|COPZ1_ENST00000552218.1_Missense_Mutation_p.E148K|COPZ1_ENST00000551779.1_Missense_Mutation_p.E127K|COPZ1_ENST00000549116.1_Missense_Mutation_p.E69K|COPZ1_ENST00000455864.2_Missense_Mutation_p.E104K	NM_001271734.1|NM_001271736.1|NM_016057.1	NP_001258663.1|NP_001258665.1|NP_057141.1	P61923	COPZ1_HUMAN	coatomer protein complex, subunit zeta 1	127					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)				kidney(1)|lung(4)	5						GGCTGTGGATGAAATTGTAGA	0.502																																						uc001sfs.1		NA																	0					0						c.(379-381)GAA>AAA		coatomer protein complex, subunit zeta 1							207.0	203.0	205.0					12																	54741612		2203	4300	6503	SO:0001583	missense	22818				COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol		g.chr12:54741612G>A	AF151878	CCDS8877.1, CCDS61137.1, CCDS61138.1, CCDS61139.1	12q13.2-q13.3	2008-02-05		2003-07-23					2243	protein-coding gene	gene with protein product		615472	"""coatomer protein complex, subunit zeta"""	COPZ			Standard	NM_001271734		Approved	CGI-120	uc009znm.2	P61923		ENST00000262061.2:c.379G>A	12.37:g.54741612G>A	ENSP00000262061:p.Glu127Lys					COPZ1_uc001sft.2_Missense_Mutation_p.E76K|COPZ1_uc009znm.1_Missense_Mutation_p.E135K|COPZ1_uc010sot.1_Missense_Mutation_p.E104K	p.E127K	NM_016057	NP_057141	P61923	COPZ1_HUMAN			6	416	+			127					B4DDX8|B4DHZ0|F8VS17|F8VWL5|Q549N6|Q9Y3C3	Missense_Mutation	SNP	ENST00000262061.2	37	c.379G>A	CCDS8877.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.256390	0.80246	.	.	ENSG00000111481	ENST00000262061;ENST00000549043;ENST00000552218;ENST00000553231;ENST00000552362;ENST00000455864;ENST00000416254;ENST00000549116;ENST00000551779;ENST00000548753;ENST00000550713	.	.	.	5.24	5.24	0.73138	Longin-like (1);AP complex, mu/sigma subunit (1);	0.000000	0.85682	D	0.000000	D	0.88016	0.6324	H	0.96996	3.92	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;1.0	D	0.91812	0.5460	9	0.87932	D	0	-0.0021	16.6913	0.85322	0.0:0.0:1.0:0.0	.	104;135;76;127	B4DDX8;F8VWL5;B4DHZ0;P61923	.;.;.;COPZ1_HUMAN	K	127;135;148;104;127;104;76;69;127;39;135	.	ENSP00000262061:E127K	E	+	1	0	COPZ1	53027879	1.000000	0.71417	1.000000	0.80357	0.127000	0.20565	8.950000	0.93019	2.601000	0.87937	0.655000	0.94253	GAA		0.502	COPZ1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405753.1	NM_016057		8	63	0	0	0	0	8	63				
NCKAP1L	3071	broad.mit.edu	37	12	54894338	54894338	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:54894338C>T	ENST00000293373.6	+	3	314	c.235C>T	c.(235-237)Cgt>Tgt	p.R79C	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R29C|RP11-753H16.3_ENST00000550474.1_RNA	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	79					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)	p.R79C(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						ACCAGTACATCGTGAAAAAGC	0.378																																						uc001sgc.3		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(3)|central_nervous_system(1)	4						c.(235-237)CGT>TGT		NCK-associated protein 1-like							174.0	165.0	168.0					12																	54894338		2203	4300	6503	SO:0001583	missense	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54894338C>T	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.235C>T	12.37:g.54894338C>T	ENSP00000293373:p.Arg79Cys					NCKAP1L_uc010sox.1_5'UTR|NCKAP1L_uc010soy.1_Missense_Mutation_p.R29C	p.R79C	NM_005337	NP_005328	P55160	NCKPL_HUMAN			3	314	+			79					B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	c.235C>T	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.954845	0.73902	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.31769	1.48;1.48	5.06	4.11	0.48088	.	0.214383	0.35805	N	0.002964	T	0.37544	0.1007	L	0.36672	1.1	0.42698	D	0.993604	D	0.76494	0.999	P	0.57960	0.83	T	0.12993	-1.0526	10	0.59425	D	0.04	-13.7326	11.3843	0.49776	0.2753:0.7247:0.0:0.0	.	79	P55160	NCKPL_HUMAN	C	79;29	ENSP00000293373:R79C;ENSP00000445596:R29C	ENSP00000293373:R79C	R	+	1	0	NCKAP1L	53180605	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.019000	0.49635	2.506000	0.84524	0.460000	0.39030	CGT		0.378	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		12	223	0	0	0	0	12	223				
BAZ2A	11176	broad.mit.edu	37	12	57005681	57005681	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:57005681G>A	ENST00000551812.1	-	6	1684	c.1491C>T	c.(1489-1491)ccC>ccT	p.P497P	BAZ2A_ENST00000379441.3_Silent_p.P467P|BAZ2A_ENST00000179765.5_Silent_p.P465P|BAZ2A_ENST00000549884.1_Silent_p.P495P	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	497					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GGGAAGTTACGGGAGAGGCTT	0.542																																						uc001slq.1		NA																	0					0						c.(1489-1491)CCC>CCT		bromodomain adjacent to zinc finger domain, 2A							46.0	49.0	48.0					12																	57005681		1934	4161	6095	SO:0001819	synonymous_variant	11176				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding	g.chr12:57005681G>A	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.1491C>T	12.37:g.57005681G>A						BAZ2A_uc001slp.1_Silent_p.P495P|BAZ2A_uc009zow.1_Silent_p.P465P	p.P497P	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN			6	1685	-			497					B3KN66|O00536|O15030|Q68DI8|Q96H26	Silent	SNP	ENST00000551812.1	37	c.1491C>T	CCDS44924.1	.	.	.	.	.	.	.	.	.	.	G	7.027	0.559930	0.13436	.	.	ENSG00000076108	ENST00000551996	T	0.43688	0.94	5.09	1.37	0.22104	.	0.381500	0.26106	N	0.026313	T	0.49218	0.1544	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46596	-0.9180	7	0.87932	D	0	.	7.8674	0.29545	0.6572:0.0:0.3428:0.0	.	.	.	.	L	145	ENSP00000447591:P145L	ENSP00000447591:P145L	P	-	2	0	BAZ2A	55291948	0.705000	0.27846	0.960000	0.40013	0.764000	0.43329	0.339000	0.19875	0.135000	0.18707	-0.340000	0.08031	CCG		0.542	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449		4	24	0	0	0	0	4	24				
RDH16	8608	broad.mit.edu	37	12	57348692	57348692	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:57348692G>A	ENST00000398138.3	-	2	1426	c.570C>T	c.(568-570)ctC>ctT	p.L190L	RDH16_ENST00000360752.4_Intron	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	190					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	electron carrier activity (GO:0009055)|retinol dehydrogenase activity (GO:0004745)	p.L190L(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						ACCCATACCTGAGGGAGTCAG	0.567																																					GBM(179;741 2921 43105 45298)	uc001smi.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(568-570)CTC>CTT		retinol dehydrogenase 16							49.0	56.0	54.0					12																	57348692		2033	4210	6243	SO:0001819	synonymous_variant	8608				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity	g.chr12:57348692G>A		CCDS41797.1	12q13.3	2011-09-14	2006-05-09			ENSG00000139547		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	29674	protein-coding gene	gene with protein product	"""microsomal NAD+ dependent retinol dehydrogenase 4"", ""short chain dehydrogenase/reductase family 9C, member 8"""		"""retinol dehydrogenase 16 (all-trans and 13-cis)"""			9677409, 10329026, 19027726	Standard	NM_003708		Approved	RODH-4, SDR9C8	uc001smi.4	O75452		ENST00000398138.3:c.570C>T	12.37:g.57348692G>A						RDH16_uc009zpa.2_Intron	p.L190L	NM_003708	NP_003699	O75452	RDH16_HUMAN			2	742	-			190			Cytoplasmic (Potential).		Q9UNV2	Silent	SNP	ENST00000398138.3	37	c.570C>T	CCDS41797.1																																																																																				0.567	RDH16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410898.1	NM_003708		6	70	0	0	0	0	6	70				
CAND1	55832	broad.mit.edu	37	12	67699281	67699281	+	Silent	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:67699281A>G	ENST00000545606.1	+	10	2270	c.1833A>G	c.(1831-1833)acA>acG	p.T611T		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	611					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TGCCTAATACACTTCAGATTT	0.393																																						uc001stn.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1831-1833)ACA>ACG		TIP120 protein							123.0	124.0	124.0					12																	67699281		2203	4300	6503	SO:0001819	synonymous_variant	55832				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding	g.chr12:67699281A>G		CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.1833A>G	12.37:g.67699281A>G						CAND1_uc001sto.2_Intron	p.T611T	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)	10	2270	+			611			HEAT 14.		B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Silent	SNP	ENST00000545606.1	37	c.1833A>G	CCDS8977.1																																																																																				0.393	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448		16	323	0	0	0	0	16	323				
MGAT4C	25834	broad.mit.edu	37	12	86373610	86373610	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:86373610C>G	ENST00000604798.1	-	8	2098	c.894G>C	c.(892-894)caG>caC	p.Q298H	MGAT4C_ENST00000548651.1_Missense_Mutation_p.Q298H|MGAT4C_ENST00000549405.2_Missense_Mutation_p.Q298H|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000332156.1_Missense_Mutation_p.Q298H|MGAT4C_ENST00000393205.2_Missense_Mutation_p.Q327H|MGAT4C_ENST00000552808.2_Missense_Mutation_p.Q298H			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	298					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TCACATTTTTCTGAGCCAACA	0.383																																						uc001tai.3		NA																	0				ovary(3)	3						c.(892-894)CAG>CAC		alpha-1,3-mannosyl-glycoprotein							79.0	77.0	77.0					12																	86373610		2203	4300	6503	SO:0001583	missense	25834				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr12:86373610C>G		CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	30871	protein-coding gene	gene with protein product		607385	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"""			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.894G>C	12.37:g.86373610C>G	ENSP00000474896:p.Gln298His					MGAT4C_uc001tal.3_Missense_Mutation_p.Q298H|MGAT4C_uc001taj.3_Missense_Mutation_p.Q298H|MGAT4C_uc001tak.3_Missense_Mutation_p.Q298H|MGAT4C_uc010sum.1_Missense_Mutation_p.Q322H|MGAT4C_uc001tah.3_Missense_Mutation_p.Q298H	p.Q298H	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN			8	2144	-			298			Lumenal (Potential).		B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	ENST00000604798.1	37	c.894G>C	CCDS9030.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.869019	0.32977	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225	T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86	5.75	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.60715	0.2290	M	0.71871	2.18	0.50039	D	0.999848	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.63888	-0.6535	10	0.54805	T	0.06	-8.6765	3.7981	0.08747	0.0:0.6718:0.0:0.3282	.	327;298	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	H	298;327;298;298;298;298;298	ENSP00000331664:Q298H;ENSP00000376900:Q327H;ENSP00000449022:Q298H;ENSP00000446647:Q298H;ENSP00000447253:Q298H;ENSP00000449172:Q298H	ENSP00000331664:Q298H	Q	-	3	2	MGAT4C	84897741	1.000000	0.71417	1.000000	0.80357	0.064000	0.16182	2.707000	0.47143	2.718000	0.92993	0.650000	0.86243	CAG		0.383	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244		13	128	0	0	0	0	13	128				
ELK3	2004	broad.mit.edu	37	12	96641121	96641121	+	Missense_Mutation	SNP	C	C	T	rs118124881	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:96641121C>T	ENST00000228741.3	+	3	937	c.611C>T	c.(610-612)aCg>aTg	p.T204M	ELK3_ENST00000552142.1_Intron	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	204					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|wound healing (GO:0042060)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	purine-rich negative regulatory element binding (GO:0032422)|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)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					CTGCCTTCCACGTCAGAGGCT	0.587													C|||	6	0.00119808	0.0	0.0	5008	,	,		17768	0.0		0.004	False		,,,				2504	0.002					uc001teo.1		NA																	0				ovary(1)	1						c.(610-612)ACG>ATG		ELK3 protein		C	MET/THR	7,4399	11.4+/-27.6	0,7,2196	72.0	74.0	74.0		611	5.7	1.0	12	dbSNP_132	74	32,8568	22.2+/-67.0	0,32,4268	yes	missense	ELK3	NM_005230.2	81	0,39,6464	TT,TC,CC		0.3721,0.1589,0.2999	probably-damaging	204/408	96641121	39,12967	2203	4300	6503	SO:0001583	missense	2004				negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:96641121C>T	BC017371	CCDS9060.1	12q23	2006-12-30				ENSG00000111145			3325	protein-coding gene	gene with protein product		600247				7851904	Standard	NM_005230		Approved	ERP, NET, SAP2	uc001teo.1	P41970		ENST00000228741.3:c.611C>T	12.37:g.96641121C>T	ENSP00000228741:p.Thr204Met						p.T204M	NM_005230	NP_005221	P41970	ELK3_HUMAN			3	890	+	all_cancers(2;0.00173)		204					B2R6S6|Q6FG57|Q6GU29|Q9UD17	Missense_Mutation	SNP	ENST00000228741.3	37	c.611C>T	CCDS9060.1	4	0.0018315018315018315	0	0.0	0	0.0	0	0.0	4	0.005277044854881266	C	19.08	3.757536	0.69648	0.001589	0.003721	ENSG00000111145	ENST00000228741	T	0.33216	1.42	5.65	5.65	0.86999	.	0.258863	0.46442	D	0.000296	T	0.30293	0.0760	M	0.64997	1.995	0.80722	D	1	D	0.60575	0.988	B	0.43301	0.415	T	0.29671	-1.0004	10	0.66056	D	0.02	.	19.7205	0.96142	0.0:1.0:0.0:0.0	.	204	P41970	ELK3_HUMAN	M	204	ENSP00000228741:T204M	ENSP00000228741:T204M	T	+	2	0	ELK3	95165252	1.000000	0.71417	0.955000	0.39395	0.822000	0.46500	5.232000	0.65332	2.671000	0.90904	0.462000	0.41574	ACG		0.587	ELK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408694.1	NM_005230		20	118	0	0	0	0	20	118				
NEDD1	121441	broad.mit.edu	37	12	97345732	97345732	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:97345732A>T	ENST00000266742.4	+	16	2223	c.1884A>T	c.(1882-1884)gaA>gaT	p.E628D	NEDD1_ENST00000457368.2_Missense_Mutation_p.E539D|NEDD1_ENST00000557644.1_Missense_Mutation_p.E635D|NEDD1_ENST00000411739.2_Missense_Mutation_p.E539D|NEDD1_ENST00000429527.2_Missense_Mutation_p.E628D	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	628					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	apical part of cell (GO:0045177)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|pericentriolar material (GO:0000242)|spindle pole (GO:0000922)				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						TCTAGAATGAAATGCATTCTT	0.323																																						uc001teu.3		NA																	0					0						c.(1882-1884)GAA>GAT		neural precursor cell expressed, developmentally							66.0	67.0	67.0					12																	97345732		2203	4299	6502	SO:0001583	missense	121441				cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol		g.chr12:97345732A>T		CCDS9063.1, CCDS44955.1, CCDS44956.1	12q23.1	2013-01-10			ENSG00000139350	ENSG00000139350		"""WD repeat domain containing"""	7723	protein-coding gene	gene with protein product		600372					Standard	NM_001135175		Approved	GCP-WD, TUBGCP7	uc001tev.4	Q8NHV4	OTTHUMG00000170604	ENST00000266742.4:c.1884A>T	12.37:g.97345732A>T	ENSP00000266742:p.Glu628Asp					NEDD1_uc001tev.3_Missense_Mutation_p.E628D|NEDD1_uc010svc.1_Missense_Mutation_p.E539D|NEDD1_uc001tew.2_Missense_Mutation_p.E635D|NEDD1_uc001tex.2_Missense_Mutation_p.E539D	p.E628D	NM_152905	NP_690869	Q8NHV4	NEDD1_HUMAN			16	2223	+			628					B0AZN0|B4E145|G3V3F1|Q8NA30	Missense_Mutation	SNP	ENST00000266742.4	37	c.1884A>T	CCDS9063.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.169201	0.78339	.	.	ENSG00000139350	ENST00000266742;ENST00000429527;ENST00000411739;ENST00000557644;ENST00000457368	T;T;T;T;T	0.60424	0.19;0.19;0.92;0.19;0.92	5.74	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.72137	0.3423	M	0.68952	2.095	0.51233	D	0.999913	D;D	0.71674	0.998;0.996	D;D	0.77557	0.99;0.938	T	0.73707	-0.3898	10	0.66056	D	0.02	.	11.6749	0.51424	0.9309:0.0:0.0691:0.0	.	635;628	G3V3F1;Q8NHV4	.;NEDD1_HUMAN	D	628;628;539;635;539	ENSP00000266742:E628D;ENSP00000404978:E628D;ENSP00000411307:E539D;ENSP00000451211:E635D;ENSP00000407964:E539D	ENSP00000266742:E628D	E	+	3	2	NEDD1	95869863	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.238000	0.58688	1.015000	0.39444	0.482000	0.46254	GAA		0.323	NEDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409792.1			9	93	0	0	0	0	9	93				
NUAK1	9891	broad.mit.edu	37	12	106464625	106464625	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:106464625G>A	ENST00000261402.2	-	6	2138	c.759C>T	c.(757-759)ttC>ttT	p.F253F		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	253	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)	p.F253F(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						CGAAACCATCGAAGGGCATTG	0.547																																						uc001tlj.1		NA																	2	Substitution - coding silent(2)		large_intestine(2)	ovary(1)|central_nervous_system(1)	2						c.(757-759)TTC>TTT		AMPK-related protein kinase 5							114.0	101.0	105.0					12																	106464625		2203	4300	6503	SO:0001819	synonymous_variant	9891						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr12:106464625G>A	AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"""AMP-activated protein kinase family member 5"""	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.759C>T	12.37:g.106464625G>A							p.F253F	NM_014840	NP_055655	O60285	NUAK1_HUMAN			6	2139	-			253			Protein kinase.		A7MD39|Q96KA8	Silent	SNP	ENST00000261402.2	37	c.759C>T	CCDS31892.1																																																																																				0.547	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405767.2	NM_014840		10	98	0	0	0	0	10	98				
TPCN1	53373	broad.mit.edu	37	12	113704019	113704019	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:113704019C>T	ENST00000335509.6	+	4	586	c.272C>T	c.(271-273)cCc>cTc	p.P91L	TPCN1_ENST00000392569.4_Missense_Mutation_p.P23L|TPCN1_ENST00000541517.1_Missense_Mutation_p.P163L|TPCN1_ENST00000550785.1_Missense_Mutation_p.P163L	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	91					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						TTCACCCACCCCAAGGATGCC	0.582																																						uc001tuw.2		NA																	0				skin(2)|ovary(1)	3						c.(271-273)CCC>CTC		two pore segment channel 1 isoform 2							205.0	180.0	189.0					12																	113704019		2203	4300	6503	SO:0001583	missense	53373					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113704019C>T	AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"""Voltage-gated ion channels / Two-pore channels"""	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.272C>T	12.37:g.113704019C>T	ENSP00000335300:p.Pro91Leu					TPCN1_uc001tux.2_Missense_Mutation_p.P163L|TPCN1_uc010syt.1_Missense_Mutation_p.P23L	p.P91L	NM_017901	NP_060371	Q9ULQ1	TPC1_HUMAN			4	569	+			91			Cytoplasmic (Potential).		A7E258|Q86XS9|Q8NC20	Missense_Mutation	SNP	ENST00000335509.6	37	c.272C>T	CCDS31908.1	.	.	.	.	.	.	.	.	.	.	C	32	5.174768	0.94807	.	.	ENSG00000186815	ENST00000552642;ENST00000547275;ENST00000552985;ENST00000335509;ENST00000552897;ENST00000550785;ENST00000541517;ENST00000392569;ENST00000552542;ENST00000548465	T;D;D;D;D	0.97114	-1.23;-4.13;-4.25;-4.25;-4.19	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.98302	0.9437	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;1.0	D	0.98329	1.0532	10	0.38643	T	0.18	-38.3468	18.5345	0.91004	0.0:1.0:0.0:0.0	.	91;163;91	A5PKY2;Q9ULQ1-3;Q9ULQ1	.;.;TPC1_HUMAN	L	67;146;177;91;23;163;163;23;23;23	ENSP00000447569:P177L;ENSP00000335300:P91L;ENSP00000448083:P163L;ENSP00000438125:P163L;ENSP00000376350:P23L	ENSP00000335300:P91L	P	+	2	0	TPCN1	112188402	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.451000	0.80668	2.369000	0.80426	0.561000	0.74099	CCC		0.582	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901		35	381	0	0	0	0	35	381				
TPCN1	53373	broad.mit.edu	37	12	113714796	113714796	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:113714796C>T	ENST00000335509.6	+	11	1329	c.1015C>T	c.(1015-1017)Cga>Tga	p.R339*	TPCN1_ENST00000392569.4_Nonsense_Mutation_p.R271*|TPCN1_ENST00000541517.1_Nonsense_Mutation_p.R411*|TPCN1_ENST00000550785.1_Nonsense_Mutation_p.R411*	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	339					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						ACTGCACAAGCGAACCGCTAT	0.567																																						uc001tuw.2		NA																	0				skin(2)|ovary(1)	3						c.(1015-1017)CGA>TGA		two pore segment channel 1 isoform 2							211.0	205.0	207.0					12																	113714796		2203	4300	6503	SO:0001587	stop_gained	53373					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113714796C>T	AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"""Voltage-gated ion channels / Two-pore channels"""	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.1015C>T	12.37:g.113714796C>T	ENSP00000335300:p.Arg339*					TPCN1_uc001tux.2_Nonsense_Mutation_p.R411*|TPCN1_uc010syt.1_Nonsense_Mutation_p.R271*	p.R339*	NM_017901	NP_060371	Q9ULQ1	TPC1_HUMAN			11	1312	+			339			Cytoplasmic (Potential).		A7E258|Q86XS9|Q8NC20	Nonsense_Mutation	SNP	ENST00000335509.6	37	c.1015C>T	CCDS31908.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	7.066334|7.066334	0.98040|0.98040	.|.	.|.	ENSG00000186815|ENSG00000186815	ENST00000546781|ENST00000335509;ENST00000550785;ENST00000541517;ENST00000392569	.|.	.|.	.|.	5.56|5.56	4.66|4.66	0.58398|0.58398	.|.	.|0.128118	.|0.53938	.|D	.|0.000046	T|.	0.36936|.	0.0985|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.34675|.	-0.9819|.	3|.	.|0.02654	.|T	.|1	-8.0492|-8.0492	15.3996|15.3996	0.74827|0.74827	0.1405:0.8595:0.0:0.0|0.1405:0.8595:0.0:0.0	.|.	.|.	.|.	.|.	V|X	25|339;411;411;271	.|.	.|ENSP00000335300:R339X	A|R	+|+	2|1	0|2	TPCN1|TPCN1	112199179|112199179	1.000000|1.000000	0.71417|0.71417	0.946000|0.946000	0.38457|0.38457	0.281000|0.281000	0.26958|0.26958	4.092000|4.092000	0.57707|0.57707	1.327000|1.327000	0.45338|0.45338	0.609000|0.609000	0.83330|0.83330	GCG|CGA		0.567	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901		44	373	0	0	0	0	44	373				
CIT	11113	broad.mit.edu	37	12	120150457	120150457	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:120150457G>A	ENST00000261833.7	-	35	4549	c.4497C>T	c.(4495-4497)gaC>gaT	p.D1499D	MIR1178_ENST00000408396.1_RNA|CIT_ENST00000392521.2_Silent_p.D1541D|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1499	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		ATACATCCCCGTCGGGAAGGC	0.552																																						uc001txi.1		NA																	0				ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10						c.(4495-4497)GAC>GAT		citron							72.0	68.0	70.0					12																	120150457		2203	4300	6503	SO:0001819	synonymous_variant	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120150457G>A	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.4497C>T	12.37:g.120150457G>A						CIT_uc001txh.1_Silent_p.D1018D|CIT_uc001txj.1_Silent_p.D1541D	p.D1499D	NM_007174	NP_009105	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	35	4550	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	1499			PH.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Silent	SNP	ENST00000261833.7	37	c.4497C>T	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	G	7.023	0.559173	0.13436	.	.	ENSG00000122966	ENST00000392520	.	.	.	5.92	0.393	0.16294	.	.	.	.	.	T	0.56140	0.1965	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49409	-0.8943	4	.	.	.	.	9.4177	0.38532	0.5506:0.0:0.4494:0.0	.	.	.	.	M	1112	.	.	T	-	2	0	CIT	118634840	0.129000	0.22400	0.999000	0.59377	0.981000	0.71138	-0.097000	0.11042	0.121000	0.18284	-0.794000	0.03295	ACG		0.552	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		10	88	0	0	0	0	10	88				
SBNO1	55206	broad.mit.edu	37	12	123832576	123832576	+	Splice_Site	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:123832576C>A	ENST00000602398.1	-	3	364	c.237G>T	c.(235-237)agG>agT	p.R79S	SBNO1_ENST00000267176.4_Splice_Site_p.R79S|SBNO1_ENST00000602750.1_Splice_Site_p.R79S|Y_RNA_ENST00000384460.1_RNA|SBNO1_ENST00000420886.2_Splice_Site_p.R79S			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	79					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TCATTCTTACCCTCACATTTA	0.428																																						uc010tap.1		NA																	0				breast(5)|skin(2)|ovary(1)|kidney(1)	9						c.(235-237)AGG>AGT		sno, strawberry notch homolog 1							111.0	96.0	101.0					12																	123832576		2203	4300	6503	SO:0001630	splice_region_variant	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123832576C>A	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.237+1G>T	12.37:g.123832576C>A						SBNO1_uc010tao.1_Missense_Mutation_p.R79S|SBNO1_uc010taq.1_5'UTR|SBNO1_uc001uet.2_Missense_Mutation_p.R79S|SBNO1_uc001ueu.2_Missense_Mutation_p.R79S|SBNO1_uc001uev.2_Intron|SBNO1_uc009zxy.1_Intron	p.R79S	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	2	237	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		79					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.237G>T	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.540613	0.65085	.	.	ENSG00000139697	ENST00000420886;ENST00000267176;ENST00000442601	T;T	0.34859	1.34;1.37	6.13	5.25	0.73442	.	0.104261	0.64402	D	0.000004	T	0.24586	0.0596	L	0.27053	0.805	0.47862	D	0.999532	B;P	0.36535	0.421;0.557	B;B	0.30646	0.055;0.118	T	0.03761	-1.1006	9	.	.	.	-12.2064	14.8114	0.69996	0.0:0.9315:0.0:0.0685	.	79;79	A3KN83;A3KN83-2	SBNO1_HUMAN;.	S	79	ENSP00000387361:R79S;ENSP00000267176:R79S	.	R	-	3	2	SBNO1	122398529	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.607000	0.54102	1.623000	0.50342	0.650000	0.86243	AGG		0.428	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183	Missense_Mutation	9	114	1	0	1.77e-08	1.9e-08	9	114				
DHX37	57647	broad.mit.edu	37	12	125449066	125449066	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:125449066T>A	ENST00000308736.2	-	15	2017	c.1919A>T	c.(1918-1920)aAg>aTg	p.K640M	DHX37_ENST00000544745.1_Missense_Mutation_p.K427M	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	640	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.						ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		TTTCTTGACCTTCCCACAGTC	0.607																																						uc001ugy.2		NA																	0				skin(1)	1						c.(1918-1920)AAG>ATG		DEAH (Asp-Glu-Ala-His) box polypeptide 37							154.0	129.0	137.0					12																	125449066		2203	4300	6503	SO:0001583	missense	57647						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr12:125449066T>A	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.1919A>T	12.37:g.125449066T>A	ENSP00000311135:p.Lys640Met						p.K640M	NM_032656	NP_116045	Q8IY37	DHX37_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	15	2018	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		640			Helicase C-terminal.		Q9BUI7|Q9P211	Missense_Mutation	SNP	ENST00000308736.2	37	c.1919A>T	CCDS9261.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.2|20.2	3.942120|3.942120	0.73672|0.73672	.|.	.|.	ENSG00000150990|ENSG00000150990	ENST00000308736;ENST00000544745|ENST00000543962	T;T|.	0.02472|.	4.28;4.28|.	5.17|5.17	5.17|5.17	0.71159|0.71159	Helicase, C-terminal (3);|.	0.050825|.	0.85682|.	D|.	0.000000|.	T|T	0.70219|0.70219	0.3199|0.3199	L|L	0.54323|0.54323	1.7|1.7	0.47153|0.47153	D|D	0.999331|0.999331	D|.	0.76494|.	0.999|.	D|.	0.69654|.	0.965|.	T|T	0.73786|0.73786	-0.3873|-0.3873	10|6	0.59425|0.87932	D|D	0.04|0	-35.8701|-35.8701	14.6694|14.6694	0.68932|0.68932	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	640|.	Q8IY37|.	DHX37_HUMAN|.	M|W	640;427|92	ENSP00000311135:K640M;ENSP00000439009:K427M|.	ENSP00000311135:K640M|ENSP00000443661:R92W	K|R	-|-	2|1	0|2	DHX37|DHX37	124015019|124015019	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.789000|0.789000	0.44602|0.44602	3.424000|3.424000	0.52764|0.52764	1.958000|1.958000	0.56883|0.56883	0.379000|0.379000	0.24179|0.24179	AAG|AGG		0.607	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		9	121	0	0	0	0	9	121				
SLC7A1	6541	broad.mit.edu	37	13	30104749	30104749	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr13:30104749C>T	ENST00000380752.5	-	5	1016	c.630G>A	c.(628-630)gtG>gtA	p.V210V		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	210					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CCGATCCTTTCACAAATCCTG	0.443																																						uc001uso.2		NA																	0					0						c.(628-630)GTG>GTA		solute carrier family 7 (cationic amino acid	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						159.0	161.0	160.0					13																	30104749		2203	4300	6503	SO:0001819	synonymous_variant	6541				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity	g.chr13:30104749C>T	AF078107	CCDS9333.1	13q12.3	2013-05-22			ENSG00000139514	ENSG00000139514		"""Solute carriers"""	11057	protein-coding gene	gene with protein product	"""ecotropic retroviral receptor"", ""amino acid transporter, cationic 1"""	104615		ERR, ATRC1		1348489	Standard	NM_003045		Approved	CAT-1, HCAT1, REC1L	uc001uso.3	P30825	OTTHUMG00000016658	ENST00000380752.5:c.630G>A	13.37:g.30104749C>T							p.V210V	NM_003045	NP_003036	P30825	CTR1_HUMAN		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	5	1017	-		Lung SC(185;0.0257)|Breast(139;0.238)	210			Helical; (Potential).		Q5JR50	Silent	SNP	ENST00000380752.5	37	c.630G>A	CCDS9333.1																																																																																				0.443	SLC7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044337.2	NM_003045		19	215	0	0	0	0	19	215				
B3GALTL	145173	broad.mit.edu	37	13	31822041	31822041	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr13:31822041G>A	ENST00000343307.4	+	6	546	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K		NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	133					fucose metabolic process (GO:0006004)|protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		CTTCTGTGAAGAAGAGACAAG	0.333																																						uc010aaz.2		NA																	0				ovary(2)	2						c.(397-399)GAA>AAA		beta 1,3-galactosyltransferase-like							49.0	47.0	47.0					13																	31822041		2203	4294	6497	SO:0001583	missense	145173				fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr13:31822041G>A	AB101481	CCDS9341.1	13q12.3	2014-03-24			ENSG00000187676	ENSG00000187676		"""Beta 3-glycosyltransferases"""	20207	protein-coding gene	gene with protein product		610308				12943678, 16899492, 17032646	Standard	NM_194318		Approved	B3GTL, B3Glc-T	uc010aaz.3	Q6Y288	OTTHUMG00000016688	ENST00000343307.4:c.397G>A	13.37:g.31822041G>A	ENSP00000343002:p.Glu133Lys						p.E133K	NM_194318	NP_919299	Q6Y288	B3GLT_HUMAN		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)	6	507	+		Lung SC(185;0.0257)	133			Lumenal (Potential).		A8K5F8|Q5W0H2|Q6NUI3	Missense_Mutation	SNP	ENST00000343307.4	37	c.397G>A	CCDS9341.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.680335	0.88542	.	.	ENSG00000187676	ENST00000343307	T	0.63744	-0.06	5.72	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.80237	0.4586	M	0.83012	2.62	0.51482	D	0.99992	D	0.89917	1.0	D	0.83275	0.996	D	0.83526	0.0088	10	0.72032	D	0.01	-33.5389	14.4374	0.67290	0.0714:0.0:0.9286:0.0	.	133	Q6Y288	B3GLT_HUMAN	K	133	ENSP00000343002:E133K	ENSP00000343002:E133K	E	+	1	0	B3GALTL	30720041	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.138000	0.71717	1.554000	0.49487	0.655000	0.94253	GAA		0.333	B3GALTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044396.3	NM_194318		12	100	0	0	0	0	12	100				
N4BP2L2	10443	broad.mit.edu	37	13	33017343	33017343	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr13:33017343A>G	ENST00000504114.1	-	6	1377	c.1286T>C	c.(1285-1287)aTa>aCa	p.I429T	N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.I444T|N4BP2L2_ENST00000357505.6_Missense_Mutation_p.I429T			Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	0					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)			kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		TTCATTTCCTATCAGTAGTTT	0.418																																						uc010abe.1		NA																	0					0						c.(1330-1332)ATA>ACA		phosphonoformate immuno-associated protein 5							71.0	67.0	68.0					13																	33017343		1882	4123	6005	SO:0001583	missense	10443							g.chr13:33017343A>G	U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"""phosphonoformate immuno-associated protein 5"""	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000504114.1:c.1286T>C	13.37:g.33017343A>G	ENSP00000427477:p.Ile429Thr					N4BP2L2_uc001uug.2_Missense_Mutation_p.I327T|N4BP2L2_uc010abd.1_Missense_Mutation_p.I357T|N4BP2L2_uc001uuh.2_Missense_Mutation_p.I275T|N4BP2L2_uc001uuj.2_Intron|N4BP2L2_uc010tdz.1_Missense_Mutation_p.I429T	p.I444T	NM_033111	NP_149102	Q92802	N42L2_HUMAN		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)	7	1353	-		Lung SC(185;0.0262)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A3KME8	Missense_Mutation	SNP	ENST00000504114.1	37	c.1331T>C		.	.	.	.	.	.	.	.	.	.	A	14.98	2.696674	0.48202	.	.	ENSG00000139617;ENSG00000139617;ENSG00000244754;ENSG00000244754;ENSG00000244754	ENST00000380121;ENST00000503296;ENST00000504114;ENST00000357505;ENST00000399396	.	.	.	5.83	1.66	0.24008	.	1.493570	0.03612	N	0.234905	T	0.38719	0.1051	L	0.60455	1.87	0.09310	N	1	B;B;B;B	0.33940	0.211;0.211;0.264;0.433	B;B;B;B	0.30029	0.04;0.04;0.068;0.11	T	0.27673	-1.0067	9	0.72032	D	0.01	-7.3223	4.1269	0.10131	0.6087:0.0:0.2257:0.1656	.	429;444;327;327	B4DPY1;Q92802-3;Q96KV2;Q9Y3H6	.;.;.;.	T	327;356;429;429;444	.	ENSP00000350104:I429T	I	-	2	0	N4BP2L2;RP11-298P3.4	31915343	0.292000	0.24362	0.262000	0.24481	0.921000	0.55340	1.709000	0.37909	0.033000	0.15463	0.528000	0.53228	ATA		0.418	N4BP2L2-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000361380.1	NM_014887		13	104	0	0	0	0	13	104				
LPAR6	10161	broad.mit.edu	37	13	48985612	48985612	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr13:48985612G>C	ENST00000378434.4	-	7	2572	c.948C>G	c.(946-948)ttC>ttG	p.F316L	RB1_ENST00000267163.4_Intron|LPAR6_ENST00000345941.2_Missense_Mutation_p.F316L	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN	lysophosphatidic acid receptor 6	316						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.0?(15)|p.?(4)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						GAACTTCAGAGAATCTGAAGT	0.338																																						uc010acu.2		NA																	19	Whole gene deletion(15)|Unknown(4)	p.?(4)	bone(10)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	ovary(4)	4						c.(946-948)TTC>TTG		G-protein coupled purinergic receptor P2Y5							77.0	82.0	80.0					13																	48985612		2203	4300	6503	SO:0001583	missense	10161					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:48985612G>C	AF000546	CCDS9410.1	13q14	2012-08-08	2009-06-23	2009-06-23	ENSG00000139679	ENSG00000139679		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	15520	protein-coding gene	gene with protein product		609239	"""purinergic receptor P2Y, G-protein coupled, 5"""	P2RY5		11004484, 9755289, 19386608	Standard	NM_005767		Approved	P2Y5	uc010acu.3	P43657	OTTHUMG00000016895	ENST00000378434.4:c.948C>G	13.37:g.48985612G>C	ENSP00000367691:p.Phe316Leu					RB1_uc001vcb.2_Intron|LPAR6_uc001vcc.1_Intron|LPAR6_uc001vce.2_Missense_Mutation_p.F316L|LPAR6_uc001vcf.2_Missense_Mutation_p.F316L	p.F316L	NM_001162498	NP_001155970	P43657	LPAR6_HUMAN			1	2042	-			316			Cytoplasmic (Potential).		A4FTW9|B3KVF2|F2YGU4|O15133|Q3KPF5|Q53FA0|Q5VW44|Q7Z3S0|Q7Z3S6	Missense_Mutation	SNP	ENST00000378434.4	37	c.948C>G	CCDS9410.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.437313	0.25900	.	.	ENSG00000139679	ENST00000378434;ENST00000345941	T;T	0.62232	0.04;0.04	5.46	3.54	0.40534	.	0.243337	0.41605	D	0.000856	T	0.36608	0.0973	N	0.08118	0	0.40023	D	0.975434	B	0.23442	0.085	B	0.22386	0.039	T	0.10382	-1.0632	10	0.11485	T	0.65	.	10.0172	0.42022	0.2094:0.0:0.7906:0.0	.	316	P43657	LPAR6_HUMAN	L	316	ENSP00000367691:F316L;ENSP00000344353:F316L	ENSP00000344353:F316L	F	-	3	2	LPAR6	47883613	1.000000	0.71417	1.000000	0.80357	0.699000	0.40488	2.277000	0.43417	0.647000	0.30713	0.455000	0.32223	TTC		0.338	LPAR6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276280.2	NM_005767		15	158	0	0	0	0	15	158				
PCDH17	27253	broad.mit.edu	37	13	58299367	58299367	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr13:58299367G>C	ENST00000377918.3	+	4	3445	c.3419G>C	c.(3418-3420)aGa>aCa	p.R1140T		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1140					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GAAGTTGTGAGAGAAATTGAT	0.488																																					Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1		NA																	0				ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(3418-3420)AGA>ACA		protocadherin 17 precursor							152.0	165.0	160.0					13																	58299367		2203	4300	6503	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58299367G>C	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.3419G>C	13.37:g.58299367G>C	ENSP00000367151:p.Arg1140Thr					PCDH17_uc010aec.1_Missense_Mutation_p.R1139T|PCDH17_uc001vhr.1_Missense_Mutation_p.R229T	p.R1140T	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	4	4311	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	1140			Cytoplasmic (Potential).		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.3419G>C	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.985487	0.53934	.	.	ENSG00000118946	ENST00000377918	T	0.53206	0.63	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.64416	0.2596	L	0.46157	1.445	0.49389	D	0.999786	D	0.57899	0.981	D	0.69824	0.966	T	0.56353	-0.7993	9	.	.	.	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	1140	O14917	PCD17_HUMAN	T	1140	ENSP00000367151:R1140T	.	R	+	2	0	PCDH17	57197368	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.362000	0.79507	2.885000	0.99019	0.655000	0.94253	AGA		0.488	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		28	328	0	0	0	0	28	328				
DIAPH3	81624	broad.mit.edu	37	13	60686226	60686226	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr13:60686226G>A	ENST00000400324.4	-	3	528	c.308C>T	c.(307-309)tCa>tTa	p.S103L	DIAPH3_ENST00000400330.1_Missense_Mutation_p.S103L|DIAPH3_ENST00000267215.4_Missense_Mutation_p.S103L|DIAPH3_ENST00000400319.1_Intron|DIAPH3_ENST00000377908.2_Missense_Mutation_p.S92L|DIAPH3_ENST00000400320.1_Missense_Mutation_p.S92L	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	103					actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AGGTGCTGCTGAGCAATCACT	0.408																																						uc001vht.2		NA																	0				ovary(2)	2						c.(307-309)TCA>TTA		diaphanous homolog 3 isoform a							198.0	184.0	188.0					13																	60686226		1854	4119	5973	SO:0001583	missense	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60686226G>A	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.308C>T	13.37:g.60686226G>A	ENSP00000383178:p.Ser103Leu					DIAPH3_uc001vhw.1_Missense_Mutation_p.S92L|DIAPH3_uc010aed.1_Missense_Mutation_p.S92L|DIAPH3_uc010aee.1_Intron	p.S103L	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	3	527	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	103					A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	ENST00000400324.4	37	c.308C>T	CCDS41898.1	.	.	.	.	.	.	.	.	.	.	G	7.331	0.619026	0.14129	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000377908;ENST00000400320;ENST00000267215;ENST00000453990	D;D;D;D;D	0.85088	-1.55;-1.55;-1.56;-1.94;-1.53	5.82	4.97	0.65823	.	0.356017	0.26499	N	0.024037	T	0.71316	0.3325	N	0.22421	0.69	0.09310	N	1	P;P;P	0.39831	0.483;0.544;0.69	B;B;B	0.36666	0.057;0.077;0.23	T	0.61212	-0.7108	10	0.11485	T	0.65	.	9.9346	0.41543	0.0754:0.1376:0.787:0.0	.	92;92;103	C9JL55;C9JDG1;Q9NSV4	.;.;DIAP3_HUMAN	L	103;103;92;92;92;92;103;103	ENSP00000383178:S103L;ENSP00000383184:S103L;ENSP00000367141:S92L;ENSP00000383174:S92L;ENSP00000267215:S103L	ENSP00000267215:S103L	S	-	2	0	DIAPH3	59584227	0.969000	0.33509	0.059000	0.19551	0.068000	0.16541	3.346000	0.52190	2.760000	0.94817	0.655000	0.94253	TCA		0.408	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		32	380	0	0	0	0	32	380				
KLF5	688	broad.mit.edu	37	13	73636025	73636025	+	Silent	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr13:73636025G>C	ENST00000377687.4	+	2	824	c.288G>C	c.(286-288)ctG>ctC	p.L96L	KLF5_ENST00000539231.1_Silent_p.L5L|KLF5_ENST00000477333.1_3'UTR	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	96					angiogenesis (GO:0001525)|cellular response to organic cyclic compound (GO:0071407)|cellular response to peptide (GO:1901653)|intestinal epithelial cell development (GO:0060576)|microvillus assembly (GO:0030033)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microvillus assembly (GO:0032534)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		AGAAGTATCTGACACCTCAGC	0.428																																						uc001vje.2		NA																	0				large_intestine(1)|ovary(1)|pancreas(1)	3						c.(286-288)CTG>CTC		Kruppel-like factor 5							106.0	110.0	109.0					13																	73636025		2203	4300	6503	SO:0001819	synonymous_variant	688				transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr13:73636025G>C	D14520	CCDS9448.1, CCDS66562.1	13q21.3	2013-01-08			ENSG00000102554	ENSG00000102554		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6349	protein-coding gene	gene with protein product		602903		BTEB2		8479902, 9973612	Standard	NM_001730		Approved	IKLF, CKLF	uc001vje.3	Q13887	OTTHUMG00000017074	ENST00000377687.4:c.288G>C	13.37:g.73636025G>C						KLF5_uc001vjd.2_Silent_p.L5L	p.L96L	NM_001730	NP_001721	Q13887	KLF5_HUMAN		GBM - Glioblastoma multiforme(99;0.0011)	2	612	+		Prostate(6;0.00187)|Breast(118;0.0735)	96					L0R3U5|L0R4T9|Q9UHP8	Silent	SNP	ENST00000377687.4	37	c.288G>C	CCDS9448.1																																																																																				0.428	KLF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045263.1			23	220	0	0	0	0	23	220				
FAM155A	728215	broad.mit.edu	37	13	108518310	108518310	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr13:108518310G>T	ENST00000375915.2	-	1	773	c.635C>A	c.(634-636)cCc>cAc	p.P212H		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	212						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GAGCGGAGTGGGATGCTTGCT	0.587																																						uc001vql.2		NA																	0				skin(1)	1						c.(634-636)CCC>CAC		family with sequence similarity 155, member A							78.0	89.0	85.0					13																	108518310		2203	4300	6503	SO:0001583	missense	728215					integral to membrane	binding	g.chr13:108518310G>T	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.635C>A	13.37:g.108518310G>T	ENSP00000365080:p.Pro212His						p.P212H	NM_001080396	NP_001073865	B1AL88	F155A_HUMAN			1	1151	-			212					B2RUV1|B7Z334	Missense_Mutation	SNP	ENST00000375915.2	37	c.635C>A	CCDS32006.1	.	.	.	.	.	.	.	.	.	.	G	5.299	0.240488	0.10023	.	.	ENSG00000204442	ENST00000375915	T	0.11821	2.74	5.48	2.26	0.28386	.	0.906739	0.09385	N	0.809358	T	0.17066	0.0410	L	0.34521	1.04	0.09310	N	1	P	0.44429	0.835	B	0.43950	0.437	T	0.35919	-0.9769	10	0.51188	T	0.08	.	17.5256	0.87799	0.0:0.0:0.8516:0.1484	.	212	B1AL88	F155A_HUMAN	H	212	ENSP00000365080:P212H	ENSP00000365080:P212H	P	-	2	0	FAM155A	107316311	0.011000	0.17503	0.008000	0.14137	0.012000	0.07955	0.994000	0.29693	0.600000	0.29862	0.655000	0.94253	CCC		0.587	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		11	206	1	0	0.000673444	0.00069413	11	206				
LIG4	3981	broad.mit.edu	37	13	108861664	108861664	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr13:108861664G>A	ENST00000356922.4	-	2	2225	c.1953C>T	c.(1951-1953)aaC>aaT	p.N651N	LIG4_ENST00000442234.1_Silent_p.N651N|LIG4_ENST00000405925.1_Silent_p.N651N	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	651					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TTTTGTTAACGTTAGTAAGGT	0.373								Non-homologous end-joining																														uc001vqn.2		NA																	0					0						c.(1951-1953)AAC>AAT	NHEJ	DNA ligase IV							69.0	70.0	70.0					13																	108861664		2202	4300	6502	SO:0001819	synonymous_variant	3981				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108861664G>A	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.1953C>T	13.37:g.108861664G>A						LIG4_uc001vqo.2_Silent_p.N651N|LIG4_uc010agg.1_Silent_p.N584N|LIG4_uc010agf.2_Silent_p.N651N|LIG4_uc001vqp.2_Silent_p.N651N	p.N651N	NM_002312	NP_002303	P49917	DNLI4_HUMAN			2	2226	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		651					Q8IY66|Q8TEU5	Silent	SNP	ENST00000356922.4	37	c.1953C>T	CCDS9508.1																																																																																				0.373	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		12	148	0	0	0	0	12	148				
ANKRD10	55608	broad.mit.edu	37	13	111563113	111563113	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr13:111563113T>C	ENST00000267339.2	-	2	349	c.215A>G	c.(214-216)gAg>gGg	p.E72G	ANKRD10_ENST00000489973.2_5'Flank|ANKRD10_ENST00000310847.4_Missense_Mutation_p.E72G|ANKRD10_ENST00000375758.5_Missense_Mutation_p.E72G	NM_017664.2	NP_060134.2	Q9NXR5	ANR10_HUMAN	ankyrin repeat domain 10	72										central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)	9	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208)			CACTAAGCACTCCAACTTCGA	0.478																																						uc001vrn.2		NA																	0				central_nervous_system(1)	1						c.(214-216)GAG>GGG		ankyrin repeat domain 10							92.0	77.0	82.0					13																	111563113		2203	4300	6503	SO:0001583	missense	55608							g.chr13:111563113T>C	AK000100	CCDS9520.1, CCDS66580.1	13q33.3	2013-01-10			ENSG00000088448	ENSG00000088448		"""Ankyrin repeat domain containing"""	20265	protein-coding gene	gene with protein product							Standard	NM_017664		Approved	FLJ20093	uc001vrn.3	Q9NXR5	OTTHUMG00000017349	ENST00000267339.2:c.215A>G	13.37:g.111563113T>C	ENSP00000267339:p.Glu72Gly					ANKRD10_uc001vro.1_Missense_Mutation_p.E72G|ANKRD10_uc001vrp.1_Missense_Mutation_p.E72G	p.E72G	NM_017664	NP_060134	Q9NXR5	ANR10_HUMAN	all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208)		2	350	-	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		72			ANK 2.		Q5VW12|Q9BV12	Missense_Mutation	SNP	ENST00000267339.2	37	c.215A>G	CCDS9520.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.034221	0.75617	.	.	ENSG00000088448	ENST00000267339;ENST00000375758;ENST00000310847	T;T;T	0.73575	-0.58;-0.76;-0.76	5.75	5.75	0.90469	Ankyrin repeat-containing domain (4);	0.044888	0.85682	D	0.000000	D	0.82568	0.5065	L	0.49126	1.545	0.80722	D	1	D;D;D	0.76494	0.978;0.999;0.998	P;D;D	0.69479	0.871;0.964;0.947	D	0.84029	0.0358	10	0.66056	D	0.02	-16.3284	16.0519	0.80769	0.0:0.0:0.0:1.0	.	72;72;72	Q8IUW1;Q9NXR5-2;Q9NXR5	.;.;ANR10_HUMAN	G	72	ENSP00000267339:E72G;ENSP00000364911:E72G;ENSP00000312534:E72G	ENSP00000267339:E72G	E	-	2	0	ANKRD10	110361114	1.000000	0.71417	0.998000	0.56505	0.292000	0.27327	7.608000	0.82898	2.196000	0.70406	0.533000	0.62120	GAG		0.478	ANKRD10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045783.1			4	48	0	0	0	0	4	48				
DCUN1D2	55208	broad.mit.edu	37	13	114115389	114115389	+	Missense_Mutation	SNP	G	G	A	rs372871477		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr13:114115389G>A	ENST00000478244.1	-	5	865	c.583C>T	c.(583-585)Ctc>Ttc	p.L195F	DCUN1D2_ENST00000332592.3_Missense_Mutation_p.L62F	NM_001014283.1	NP_001014305.1	Q6PH85	DCNL2_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 2	195	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.									breast(1)|endometrium(1)|large_intestine(1)|lung(3)|stomach(1)	7	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234)			GTGTTCCAGAGATCTAAAAAT	0.418																																						uc001vtr.1		NA																	0					0						c.(583-585)CTC>TTC		DCN1, defective in cullin neddylation 1, domain							130.0	128.0	129.0					13																	114115389		2202	4300	6502	SO:0001583	missense	55208							g.chr13:114115389G>A	AK001566	CCDS32013.1	13q34	2013-06-10	2013-06-10	2005-10-04	ENSG00000150401	ENSG00000150401			20328	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 17"", ""DCN1, defective in cullin neddylation 1, domain containing 2 (S. cerevisiae)"""	C13orf17		15988528	Standard	XM_005268320		Approved	FLJ10704, FLJ20092	uc001vtr.1	Q6PH85	OTTHUMG00000017390	ENST00000478244.1:c.583C>T	13.37:g.114115389G>A	ENSP00000417706:p.Leu195Phe					DCUN1D2_uc001vts.1_RNA|DCUN1D2_uc010agw.1_Missense_Mutation_p.L62F	p.L195F	NM_001014283	NP_001014305	Q6PH85	DCNL2_HUMAN	all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234)		5	622	-	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	195			DCUN1.		Q5JSA5|Q5JSA6|Q5JSA7|Q9NVJ1|Q9NXR6	Missense_Mutation	SNP	ENST00000478244.1	37	c.583C>T	CCDS32013.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.686848	0.48097	.	.	ENSG00000150401	ENST00000332592;ENST00000478244	.	.	.	5.11	4.27	0.50696	Domain of unknown function DUF298 (2);	0.000000	0.85682	D	0.000000	T	0.59622	0.2207	M	0.87900	2.915	0.80722	D	1	P	0.43909	0.821	B	0.39971	0.315	T	0.63332	-0.6661	9	0.10111	T	0.7	.	13.6235	0.62150	0.0746:0.0:0.9254:0.0	.	195	Q6PH85	DCNL2_HUMAN	F	62;195	.	ENSP00000330629:L62F	L	-	1	0	DCUN1D2	113163390	1.000000	0.71417	0.996000	0.52242	0.135000	0.20990	5.921000	0.70028	1.157000	0.42530	0.561000	0.74099	CTC		0.418	DCUN1D2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045938.4	NM_018185		8	59	0	0	0	0	8	59				
CHAMP1	283489	broad.mit.edu	37	13	115089332	115089332	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr13:115089332G>A	ENST00000361283.1	+	3	324	c.15G>A	c.(13-15)caG>caA	p.Q5Q		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	5					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										AAGCATTCCAGGAACTTCGTA	0.378																																						uc010ahb.2		NA																	0				ovary(2)	2						c.(13-15)CAG>CAA		zinc finger protein 828							123.0	118.0	119.0					13																	115089332		2203	4300	6503	SO:0001819	synonymous_variant	283489				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding	g.chr13:115089332G>A	AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"""Zinc fingers, C2H2-type"""	20311	protein-coding gene	gene with protein product	"""chromosome alignment-maintaining phosphoprotein"""		"""chromosome 13 open reading frame 8"", ""zinc finger protein 828"""	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.15G>A	13.37:g.115089332G>A						ZNF828_uc001vuv.2_Silent_p.Q5Q|ZNF828_uc010tko.1_Silent_p.Q5Q	p.Q5Q	NM_001164144	NP_001157616	Q96JM3	ZN828_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.104)	OV - Ovarian serous cystadenocarcinoma(48;0.193)|Epithelial(10;0.197)	3	344	+	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_epithelial(44;0.122)|all_lung(25;0.123)	5					B3KU06|Q6P181|Q8NC88|Q9BST0	Silent	SNP	ENST00000361283.1	37	c.15G>A	CCDS9545.1																																																																																				0.378	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045977.2	NM_032436		13	156	0	0	0	0	13	156				
NGDN	25983	broad.mit.edu	37	14	23945268	23945268	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:23945268G>A	ENST00000408901.3	+	7	479	c.451G>A	c.(451-453)Gca>Aca	p.A151T	NGDN_ENST00000556580.1_5'Flank|NGDN_ENST00000397154.3_Missense_Mutation_p.A151T	NM_001042635.1|NM_015514.1	NP_001036100.1|NP_056329.1	Q8NEJ9	NGDN_HUMAN	neuroguidin, EIF4E binding protein	151	Necessary for interaction with EIF4E. {ECO:0000250}.				regulation of translation (GO:0006417)	cell projection (GO:0042995)|chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GGAAGATGAAGCAGAAGATGA	0.413																																						uc001wjy.2		NA																	0					0						c.(451-453)GCA>ACA		neuroguidin isoform 1							102.0	102.0	102.0					14																	23945268		2203	4300	6503	SO:0001583	missense	25983				regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus		g.chr14:23945268G>A	AK022215	CCDS32051.1, CCDS41926.1	14q11.2	2014-06-13	2006-08-02	2006-08-02	ENSG00000129460	ENSG00000129460			20271	protein-coding gene	gene with protein product		610777	"""chromosome 14 open reading frame 120"""	C14orf120		16705177	Standard	NM_001042635		Approved	DKFZP564O092, LCP5, lpd-2, NGD	uc001wjy.3	Q8NEJ9	OTTHUMG00000171501	ENST00000408901.3:c.451G>A	14.37:g.23945268G>A	ENSP00000386134:p.Ala151Thr					NGDN_uc001wjz.2_Missense_Mutation_p.A151T|NGDN_uc001wka.2_5'Flank	p.A151T	NM_001042635	NP_001036100	Q8NEJ9	NGDN_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	7	478	+	all_cancers(95;0.000251)		151			Necessary for interaction with EIF4E (By similarity).		A8K760|Q9Y400	Missense_Mutation	SNP	ENST00000408901.3	37	c.451G>A	CCDS41926.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.637|2.637	-0.285078|-0.285078	0.05605|0.05605	.|.	.|.	ENSG00000129460|ENSG00000129460	ENST00000408901;ENST00000397154;ENST00000555128|ENST00000556483	T;T|.	0.33216|.	1.44;1.42|.	5.36|5.36	0.168|0.168	0.15012|0.15012	.|.	1.039790|.	0.07467|.	N|.	0.901586|.	T|T	0.40862|0.40862	0.1134|0.1134	L|L	0.27053|0.27053	0.805|0.805	0.35517|0.35517	D|D	0.801107|0.801107	B;B|.	0.06786|.	0.001;0.001|.	B;B|.	0.08055|.	0.003;0.002|.	T|T	0.42378|0.42378	-0.9455|-0.9455	10|5	0.13853|.	T|.	0.58|.	-14.2863|-14.2863	9.2924|9.2924	0.37795|0.37795	0.4835:0.0:0.5165:0.0|0.4835:0.0:0.5165:0.0	.|.	151;151|.	Q8NEJ9-2;Q8NEJ9|.	.;NGDN_HUMAN|.	T|N	151;151;126|98	ENSP00000386134:A151T;ENSP00000380340:A151T|.	ENSP00000380340:A151T|.	A|S	+|+	1|2	0|0	NGDN|NGDN	23015108|23015108	0.917000|0.917000	0.31117|0.31117	0.413000|0.413000	0.26509|0.26509	0.129000|0.129000	0.20672|0.20672	1.213000|1.213000	0.32407|0.32407	0.126000|0.126000	0.18424|0.18424	0.563000|0.563000	0.77884|0.77884	GCA|AGC		0.413	NGDN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000413782.3	NM_001042635		10	120	0	0	0	0	10	120				
CMA1	1215	broad.mit.edu	37	14	24975727	24975727	+	Missense_Mutation	SNP	C	C	T	rs13306252	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:24975727C>T	ENST00000250378.3	-	3	322	c.293G>A	c.(292-294)cGt>cAt	p.R98H	RP11-80A15.1_ENST00000555109.1_Intron|CMA1_ENST00000206446.4_5'UTR	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	98	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		R -> H (in dbSNP:rs13306252).		angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|cellular response to glucose stimulus (GO:0071333)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|interleukin-1 beta biosynthetic process (GO:0050720)|midbrain development (GO:0030901)|peptide metabolic process (GO:0006518)|positive regulation of angiogenesis (GO:0045766)|regulation of inflammatory response (GO:0050727)	extracellular region (GO:0005576)|intracellular (GO:0005622)	peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		TTTTGGATGACGGAATTGCTT	0.423													C|||	10	0.00199681	0.0008	0.0	5008	,	,		22743	0.0079		0.0	False		,,,				2504	0.001					uc001wpp.1		NA																	0					0						c.(292-294)CGT>CAT		chymase 1, mast cell preproprotein		C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	359.0	312.0	328.0		293	-5.9	0.0	14	dbSNP_121	328	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CMA1	NM_001836.2	29	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	possibly-damaging	98/248	24975727	3,13003	2203	4300	6503	SO:0001583	missense	1215				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr14:24975727C>T		CCDS9630.1	14q12	2012-08-30			ENSG00000092009	ENSG00000092009	3.4.21.39		2097	protein-coding gene	gene with protein product		118938				8468056	Standard	NM_001836		Approved		uc001wpp.1	P23946	OTTHUMG00000140181	ENST00000250378.3:c.293G>A	14.37:g.24975727C>T	ENSP00000250378:p.Arg98His					CMA1_uc010alx.1_5'UTR	p.R98H	NM_001836	NP_001827	P23946	CMA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0271)	3	323	-			98			Peptidase S1.		B5BUM8|Q16018|Q3SY36|Q3SY37|Q9UDH5	Missense_Mutation	SNP	ENST00000250378.3	37	c.293G>A	CCDS9630.1	6	0.0027472527472527475	0	0.0	0	0.0	6	0.01048951048951049	0	0.0	C	16.99	3.274530	0.59649	4.54E-4	1.16E-4	ENSG00000092009	ENST00000250378	T	0.59772	0.24	5.52	-5.92	0.02261	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.505090	0.01224	N	0.008166	T	0.33818	0.0876	N	0.20328	0.56	0.09310	N	0.999999	D	0.60160	0.987	P	0.47346	0.544	T	0.43163	-0.9408	10	0.15066	T	0.55	.	7.2567	0.26181	0.4623:0.3198:0.2179:0.0	rs13306252;rs52825023;rs13306252	98	P23946	CMA1_HUMAN	H	98	ENSP00000250378:R98H	ENSP00000250378:R98H	R	-	2	0	CMA1	24045567	0.023000	0.18921	0.000000	0.03702	0.332000	0.28634	0.065000	0.14466	-1.632000	0.01541	-0.165000	0.13383	CGT		0.423	CMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276535.2			23	189	0	0	0	0	23	189				
ARHGAP5	394	broad.mit.edu	37	14	32562761	32562761	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:32562761A>C	ENST00000345122.3	+	2	3201	c.2886A>C	c.(2884-2886)gaA>gaC	p.E962D	ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.E962D|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.E962D|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.E962D	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	962					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		ATCAAAGTGAAGATGTTTTTC	0.358																																					NSCLC(9;77 350 3443 29227 41353)	uc001wrl.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(2884-2886)GAA>GAC		Rho GTPase activating protein 5 isoform b							55.0	54.0	54.0					14																	32562761		2203	4298	6501	SO:0001583	missense	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32562761A>C	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.2886A>C	14.37:g.32562761A>C	ENSP00000371897:p.Glu962Asp					ARHGAP5_uc001wrm.2_Missense_Mutation_p.E962D|ARHGAP5_uc001wrn.2_Missense_Mutation_p.E962D|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	p.E962D	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	2	3125	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		962					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	37	c.2886A>C	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	A	14.97	2.695811	0.48202	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.10288	2.89;2.89;2.89;2.89	5.66	-2.54	0.06307	.	0.000000	0.85682	D	0.000000	T	0.18551	0.0445	L	0.52759	1.655	0.47621	D	0.999474	P;P	0.45827	0.867;0.791	P;P	0.56514	0.8;0.636	T	0.00425	-1.1747	10	0.33940	T	0.23	.	14.755	0.69557	0.4491:0.0:0.5509:0.0	.	962;962	Q13017-2;Q13017	.;RHG05_HUMAN	D	962	ENSP00000452222:E962D;ENSP00000441692:E962D;ENSP00000371897:E962D;ENSP00000393307:E962D	ENSP00000371897:E962D	E	+	3	2	ARHGAP5	31632512	0.989000	0.36119	0.992000	0.48379	0.997000	0.91878	0.362000	0.20284	-0.351000	0.08249	0.528000	0.53228	GAA		0.358	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		20	137	0	0	0	0	20	137				
AKAP6	9472	broad.mit.edu	37	14	33292499	33292499	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:33292499G>A	ENST00000280979.4	+	13	5650	c.5480G>A	c.(5479-5481)gGc>gAc	p.G1827D	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1827					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GAGATGAAGGGCAGTAAAGAT	0.383																																					Melanoma(49;821 1200 7288 13647 42351)	uc001wrq.2		NA																	0				breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21						c.(5479-5481)GGC>GAC		A-kinase anchor protein 6							95.0	96.0	95.0					14																	33292499		2202	4300	6502	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33292499G>A	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.5480G>A	14.37:g.33292499G>A	ENSP00000280979:p.Gly1827Asp						p.G1827D	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	5650	+	Breast(36;0.0388)|Prostate(35;0.15)		1827					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.5480G>A	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	G	6.210	0.406894	0.11754	.	.	ENSG00000151320	ENST00000280979	T	0.04970	3.52	5.48	4.56	0.56223	.	0.672470	0.15689	N	0.249523	T	0.06462	0.0166	L	0.44542	1.39	0.58432	D	0.999996	B	0.28128	0.201	B	0.24006	0.05	T	0.23904	-1.0175	10	0.52906	T	0.07	-0.2828	6.9844	0.24721	0.1447:0.0:0.7081:0.1471	.	1827	Q13023	AKAP6_HUMAN	D	1827	ENSP00000280979:G1827D	ENSP00000280979:G1827D	G	+	2	0	AKAP6	32362250	1.000000	0.71417	0.551000	0.28230	0.716000	0.41182	2.430000	0.44766	1.257000	0.44085	0.650000	0.86243	GGC		0.383	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		7	131	0	0	0	0	7	131				
CTAGE5	4253	broad.mit.edu	37	14	39782616	39782616	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:39782616C>A	ENST00000280083.3	+	14	1580	c.1266C>A	c.(1264-1266)agC>agA	p.S422R	CTAGE5_ENST00000553352.1_Missense_Mutation_p.S393R|CTAGE5_ENST00000396165.4_Missense_Mutation_p.S393R|CTAGE5_ENST00000348007.3_Missense_Mutation_p.S422R|CTAGE5_ENST00000557038.1_Missense_Mutation_p.S342R|CTAGE5_ENST00000341749.3_Missense_Mutation_p.S410R|RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.S957R|CTAGE5_ENST00000396158.2_Missense_Mutation_p.S427R|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.S393R|CTAGE5_ENST00000556148.1_Missense_Mutation_p.S347R|CTAGE5_ENST00000341502.5_Missense_Mutation_p.S422R			O15320	CTGE5_HUMAN	CTAGE family, member 5	422					positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		AAAAGATCAGCCATGCCACTG	0.308																																						uc001wvg.3		NA																	0					0						c.(1264-1266)AGC>AGA		CTAGE family, member 5 isoform 1							54.0	65.0	62.0					14																	39782616		2203	4290	6493	SO:0001583	missense	4253						enzyme activator activity|protein binding	g.chr14:39782616C>A	U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"""meningioma expressed antigen 6 (coiled-coil proline-rich)"""	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.1266C>A	14.37:g.39782616C>A	ENSP00000280083:p.Ser422Arg					CTAGE5_uc010tqe.1_Missense_Mutation_p.S384R|CTAGE5_uc001wuz.3_Missense_Mutation_p.S410R|CTAGE5_uc001wuy.3_Missense_Mutation_p.S342R|CTAGE5_uc001wvb.3_Missense_Mutation_p.S393R|CTAGE5_uc001wvc.3_Missense_Mutation_p.S367R|CTAGE5_uc001wva.3_Missense_Mutation_p.S393R|CTAGE5_uc001wvh.3_Missense_Mutation_p.S422R|CTAGE5_uc001wvf.3_Missense_Mutation_p.S347R|CTAGE5_uc001wvi.3_Missense_Mutation_p.S427R|CTAGE5_uc010amz.2_Missense_Mutation_p.S38R|CTAGE5_uc001wvj.3_Missense_Mutation_p.S393R	p.S422R	NM_005930	NP_005921	O15320	CTGE5_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)	14	1602	+	Hepatocellular(127;0.213)		422			Potential.		B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Missense_Mutation	SNP	ENST00000280083.3	37	c.1266C>A	CCDS9674.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.053479	0.55218	.	.	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000341749;ENST00000557038;ENST00000382245;ENST00000396165;ENST00000341502;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000348007;ENST00000553352	T;T;T;T;T;T;T;T;T;T	0.42513	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.97;0.98	5.34	-1.06	0.10002	.	.	.	.	.	T	0.51601	0.1684	M	0.79805	2.47	0.18873	N	0.999986	P;B;B;B;P;B	0.41313	0.696;0.409;0.27;0.409;0.745;0.409	B;B;B;B;P;B	0.48677	0.438;0.271;0.271;0.271;0.586;0.271	T	0.49679	-0.8914	8	.	.	.	.	9.2881	0.37769	0.0:0.2616:0.0:0.7384	.	384;427;422;422;393;410	F8W9E1;O15320-5;O15320-2;O15320;O15320-7;G3XAC5	.;.;.;CTGE5_HUMAN;.;.	R	957;410;342;384;393;422;427;422;347;422;393	ENSP00000452252:S957R;ENSP00000343897:S410R;ENSP00000450869:S342R;ENSP00000379468:S393R;ENSP00000339286:S422R;ENSP00000379462:S427R;ENSP00000280083:S422R;ENSP00000452562:S347R;ENSP00000343912:S422R;ENSP00000450449:S393R	.	S	+	3	2	CTAGE5;RP11-407N17.3	38852367	0.930000	0.31532	0.342000	0.25602	0.988000	0.76386	0.276000	0.18716	-0.047000	0.13423	0.650000	0.86243	AGC		0.308	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		10	108	1	0	4.69e-08	5e-08	10	108				
RPL10L	140801	broad.mit.edu	37	14	47120636	47120636	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:47120636T>C	ENST00000298283.3	-	1	392	c.304A>G	c.(304-306)Atg>Gtg	p.M102V		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	102					spermatogenesis (GO:0007283)|translation (GO:0006412)	cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	structural constituent of ribosome (GO:0003735)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						CAGGACAACATCTTGTTGATG	0.527																																						uc001wwg.2		NA																	0				ovary(1)	1						c.(304-306)ATG>GTG		ribosomal protein L10-like protein							69.0	67.0	68.0					14																	47120636		2203	4300	6503	SO:0001583	missense	140801				spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome	g.chr14:47120636T>C	AB063608	CCDS32071.1	14q21.2	2011-09-15			ENSG00000165496	ENSG00000165496		"""L ribosomal proteins"""	17976	protein-coding gene	gene with protein product						19123937	Standard	NM_080746		Approved		uc001wwg.3	Q96L21	OTTHUMG00000157869	ENST00000298283.3:c.304A>G	14.37:g.47120636T>C	ENSP00000298283:p.Met102Val						p.M102V	NM_080746	NP_542784	Q96L21	RL10L_HUMAN			1	393	-			102					Q8IUD1	Missense_Mutation	SNP	ENST00000298283.3	37	c.304A>G	CCDS32071.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.060027	0.76074	.	.	ENSG00000165496	ENST00000298283	T	0.75260	-0.92	4.32	4.32	0.51571	Ribosomal protein L10e/L16 (2);	0.000000	0.85682	D	0.000000	D	0.89959	0.6866	H	0.97806	4.08	0.80722	D	1	P	0.50528	0.936	D	0.63793	0.918	D	0.92586	0.6079	10	0.72032	D	0.01	-49.847	12.1008	0.53783	0.0:0.0:0.0:1.0	.	102	Q96L21	RL10L_HUMAN	V	102	ENSP00000298283:M102V	ENSP00000298283:M102V	M	-	1	0	RPL10L	46190386	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.527000	0.67123	2.171000	0.68590	0.533000	0.62120	ATG		0.527	RPL10L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349819.1			13	95	0	0	0	0	13	95				
ARF6	382	broad.mit.edu	37	14	50360887	50360887	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:50360887C>G	ENST00000298316.5	+	2	980	c.433C>G	c.(433-435)Cgg>Ggg	p.R145G		NM_001663.3	NP_001654.1	P62330	ARF6_HUMAN	ADP-ribosylation factor 6	145					cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular component movement (GO:0006928)|cortical actin cytoskeleton organization (GO:0030866)|establishment of epithelial cell polarity (GO:0090162)|GTP catabolic process (GO:0006184)|hepatocyte apoptotic process (GO:0097284)|liver development (GO:0001889)|myeloid cell apoptotic process (GO:0033028)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|protein localization to cell surface (GO:0034394)|protein localization to endosome (GO:0036010)|protein transport (GO:0015031)|regulation of dendritic spine development (GO:0060998)|regulation of filopodium assembly (GO:0051489)|regulation of Rac protein signal transduction (GO:0035020)|ruffle organization (GO:0031529)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|ruffle (GO:0001726)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|thioesterase binding (GO:0031996)			endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)	4	all_epithelial(31;0.000822)|Breast(41;0.0117)					GACCCGGATTCGGGACAGGAA	0.552																																						uc001wxg.3		NA																	0					0						c.(433-435)CGG>GGG		ADP-ribosylation factor 6							40.0	36.0	38.0					14																	50360887		2203	4300	6503	SO:0001583	missense	382				cell adhesion|cellular component movement|cortical actin cytoskeleton organization|negative regulation of receptor-mediated endocytosis|positive regulation of actin filament polymerization|positive regulation of establishment of protein localization in plasma membrane|protein localization at cell surface|protein transport|regulation of dendritic spine development|regulation of filopodium assembly|regulation of Rac protein signal transduction|ruffle organization|small GTPase mediated signal transduction|vesicle-mediated transport	cell cortex|endosome membrane|filopodium membrane|Golgi apparatus|membrane fraction|ruffle	GTP binding|GTPase activity|thioesterase binding	g.chr14:50360887C>G		CCDS9695.1	14q21.3	2004-06-21			ENSG00000165527	ENSG00000165527		"""ADP-ribosylation factors"""	659	protein-coding gene	gene with protein product		600464				1993656, 10343114	Standard	NM_001663		Approved		uc001wxg.4	P62330	OTTHUMG00000140296	ENST00000298316.5:c.433C>G	14.37:g.50360887C>G	ENSP00000298316:p.Arg145Gly						p.R145G	NM_001663	NP_001654	P62330	ARF6_HUMAN			2	1054	+	all_epithelial(31;0.000822)|Breast(41;0.0117)		145					P26438|Q6FGZ2	Missense_Mutation	SNP	ENST00000298316.5	37	c.433C>G	CCDS9695.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.724369	0.30593	.	.	ENSG00000165527	ENST00000298316	D	0.82255	-1.59	5.05	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.67297	0.2878	N	0.12527	0.23	0.53005	D	0.999965	B	0.02656	0.0	B	0.10450	0.005	T	0.63202	-0.6690	10	0.87932	D	0	-9.5638	7.179	0.25761	0.2834:0.63:0.0:0.0867	.	145	P62330	ARF6_HUMAN	G	145	ENSP00000298316:R145G	ENSP00000298316:R145G	R	+	1	2	ARF6	49430637	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.997000	0.49457	1.113000	0.41760	0.491000	0.48974	CGG		0.552	ARF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276883.1	NM_001663		8	62	0	0	0	0	8	62				
WDHD1	11169	broad.mit.edu	37	14	55453969	55453969	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:55453969G>A	ENST00000360586.3	-	14	1728	c.1663C>T	c.(1663-1665)Cga>Tga	p.R555*	WDHD1_ENST00000420358.2_Nonsense_Mutation_p.R432*|WDHD1_ENST00000421192.1_Nonsense_Mutation_p.R432*|WDHD1_ENST00000359167.4_Nonsense_Mutation_p.R73*	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	555					heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						GTAAACAATCGAAGAAGCAGG	0.458																																						uc001xbm.1		NA																	0				skin(1)	1						c.(1663-1665)CGA>TGA		WD repeat and HMG-box DNA binding protein 1							89.0	86.0	87.0					14																	55453969		2203	4300	6503	SO:0001587	stop_gained	11169					cytoplasm|nucleoplasm	DNA binding	g.chr14:55453969G>A	AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"""WD repeat domain containing"""	23170	protein-coding gene	gene with protein product	"""CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"""	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.1663C>T	14.37:g.55453969G>A	ENSP00000353793:p.Arg555*					WDHD1_uc010aom.1_Nonsense_Mutation_p.R72*|WDHD1_uc001xbn.1_Nonsense_Mutation_p.R432*	p.R555*	NM_007086	NP_009017	O75717	WDHD1_HUMAN			14	1741	-			555					C9JW18|F6W0U7	Nonsense_Mutation	SNP	ENST00000360586.3	37	c.1663C>T	CCDS9721.1	.	.	.	.	.	.	.	.	.	.	G	38	6.808844	0.97853	.	.	ENSG00000198554	ENST00000360586;ENST00000359167;ENST00000421192	.	.	.	4.91	4.91	0.64330	.	0.068851	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.4532	0.90711	0.0:0.0:1.0:0.0	.	.	.	.	X	555;73;432	.	ENSP00000352085:R73X	R	-	1	2	WDHD1	54523719	1.000000	0.71417	0.776000	0.31678	0.013000	0.08279	5.004000	0.63966	2.441000	0.82636	0.591000	0.81541	CGA		0.458	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276897.2	NM_007086		8	96	0	0	0	0	8	96				
TMEM260	54916	broad.mit.edu	37	14	57092099	57092099	+	Splice_Site	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:57092099G>C	ENST00000261556.6	+	12	1520		c.e12-1		TMEM260_ENST00000538838.1_Splice_Site|TMEM260_ENST00000536419.1_Splice_Site	NM_017799.3	NP_060269.3	Q9NX78	TM260_HUMAN	transmembrane protein 260							integral component of membrane (GO:0016021)											TTTTCTGGCAGATGATGACTT	0.378																																						uc001xcm.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.e12-1		hypothetical protein LOC54916							106.0	105.0	106.0					14																	57092099		2203	4300	6503	SO:0001630	splice_region_variant	54916					integral to membrane		g.chr14:57092099G>C	AK000399	CCDS9727.2	14q22.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000070269	ENSG00000070269			20185	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 101"""	C14orf101			Standard	XR_245695		Approved	FLJ20392	uc001xcm.3	Q9NX78	OTTHUMG00000152337	ENST00000261556.6:c.1399-1G>C	14.37:g.57092099G>C						C14orf101_uc001xcj.2_Splice_Site|C14orf101_uc001xcl.1_Splice_Site|C14orf101_uc001xcn.2_Splice_Site|C14orf101_uc010trf.1_Splice_Site|C14orf101_uc001xco.2_Splice_Site	p.M467_splice	NM_017799	NP_060269	Q9NX78	CN101_HUMAN		OV - Ovarian serous cystadenocarcinoma(311;0.226)	12	1521	+								A8KAN4|B3KPF5|Q86XE1	Splice_Site	SNP	ENST00000261556.6	37	c.1399_splice	CCDS9727.2	.	.	.	.	.	.	.	.	.	.	G	20.6	4.024080	0.75390	.	.	ENSG00000070269	ENST00000261556;ENST00000538838	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C14orf101	56161852	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.747000	0.91610	2.836000	0.97738	0.655000	0.94253	.		0.378	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276924.1	NM_017799	Intron	8	150	0	0	0	0	8	150				
MNAT1	4331	broad.mit.edu	37	14	61201668	61201668	+	Splice_Site	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:61201668C>T	ENST00000261245.4	+	1	189	c.88C>T	c.(88-90)Ctc>Ttc	p.L30F	MNAT1_ENST00000539616.2_Splice_Site_p.L30F|MNAT1_ENST00000555545.1_3'UTR	NM_002431.3	NP_002422.1	P51948	MAT1_HUMAN	MNAT CDK-activating kinase assembly factor 1	30					7-methylguanosine mRNA capping (GO:0006370)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to calcium ion (GO:0051592)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|ventricular system development (GO:0021591)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0174)		CGGACACACTCTGTGAGTTGG	0.602								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)																														uc001xfd.2		NA																	0				ovary(1)|lung(1)	2						c.(88-90)CTC>TTC	Direct_reversal_of_damage|NER	menage a trois 1 (CAK assembly factor)							90.0	70.0	76.0					14																	61201668		2203	4300	6503	SO:0001630	splice_region_variant	4331				cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein complex assembly|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cytoplasm|holo TFIIH complex	protein N-terminus binding|zinc ion binding	g.chr14:61201668C>T	X87843	CCDS9750.1, CCDS53899.1	14q23	2013-07-31	2013-07-31		ENSG00000020426	ENSG00000020426		"""RING-type (C3HC4) zinc fingers"", ""General transcription factor IIH complex subunits"""	7181	protein-coding gene	gene with protein product	"""CDK-activating kinase assembly factor"""	602659	"""menage a trois 1 (CAK assembly factor)"", ""menage a trois homolog 1, cyclin H assembly factor (Xenopus laevis)"""			9465303	Standard	NM_002431		Approved	MAT1, RNF66	uc001xfd.3	P51948	OTTHUMG00000152340	ENST00000261245.4:c.89+1C>T	14.37:g.61201668C>T						MNAT1_uc010apq.1_Missense_Mutation_p.L30F|MNAT1_uc001xfe.2_Missense_Mutation_p.L30F	p.L30F	NM_002431	NP_002422	P51948	MAT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0174)	1	199	+			30			RING-type.		G3V1U8|Q15817|Q6ICQ7	Missense_Mutation	SNP	ENST00000261245.4	37	c.88C>T	CCDS9750.1	.	.	.	.	.	.	.	.	.	.	C	34	5.355691	0.95854	.	.	ENSG00000020426	ENST00000261245;ENST00000539616	T;T	0.50813	0.73;0.85	5.55	4.66	0.58398	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);	0.000000	0.64402	D	0.000001	T	0.65344	0.2682	M	0.76938	2.355	0.80722	D	1	D;D	0.67145	0.996;0.993	P;P	0.62813	0.907;0.844	T	0.65631	-0.6121	10	0.30854	T	0.27	-4.6343	14.2724	0.66159	0.0:0.9271:0.0:0.0729	.	30;30	G3V1U8;P51948	.;MAT1_HUMAN	F	30	ENSP00000261245:L30F;ENSP00000446437:L30F	ENSP00000261245:L30F	L	+	1	0	MNAT1	60271421	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	2.077000	0.41557	1.338000	0.45544	0.650000	0.86243	CTC		0.602	MNAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276956.1	NM_002431	Missense_Mutation	6	76	0	0	0	0	6	76				
KCNH5	27133	broad.mit.edu	37	14	63174448	63174448	+	Silent	SNP	G	G	A	rs138093802		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:63174448G>A	ENST00000322893.7	-	11	3013	c.2745C>T	c.(2743-2745)caC>caT	p.H915H	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	915	CAD (involved in subunit assembly). {ECO:0000250}.				potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CTTTGAGTTCGTGTTTGACTT	0.512																																						uc001xfx.2		NA																	0				ovary(4)|skin(4)|central_nervous_system(1)	9						c.(2743-2745)CAC>CAT		potassium voltage-gated channel, subfamily H,		G	,	0,4406		0,0,2203	142.0	131.0	135.0		2745,	-10.0	0.0	14	dbSNP_134	135	1,8599		0,1,4299	no	coding-synonymous,utr-3	KCNH5	NM_139318.3,NM_172375.1	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	915/989,	63174448	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63174448G>A	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.2745C>T	14.37:g.63174448G>A						KCNH5_uc001xfy.2_3'UTR	p.H915H	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	11	2796	-			915			CAD (involved in subunit assembly) (By similarity).|Cytoplasmic (Potential).		C9JP98	Silent	SNP	ENST00000322893.7	37	c.2745C>T	CCDS9756.1																																																																																				0.512	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		27	294	0	0	0	0	27	294				
KCNH5	27133	broad.mit.edu	37	14	63174587	63174587	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:63174587G>T	ENST00000322893.7	-	11	2874	c.2606C>A	c.(2605-2607)aCa>aAa	p.T869K	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	869					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GTCACTTTTTGTAATTCCACT	0.498																																						uc001xfx.2		NA																	0				ovary(4)|skin(4)|central_nervous_system(1)	9						c.(2605-2607)ACA>AAA		potassium voltage-gated channel, subfamily H,							139.0	125.0	130.0					14																	63174587		2203	4300	6503	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63174587G>T	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.2606C>A	14.37:g.63174587G>T	ENSP00000321427:p.Thr869Lys					KCNH5_uc001xfy.2_3'UTR	p.T869K	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	11	2657	-			869			Cytoplasmic (Potential).		C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.2606C>A	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068980	0.76301	.	.	ENSG00000140015	ENST00000322893	D	0.99220	-5.58	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.98732	0.9574	L	0.52573	1.65	0.80722	D	1	D	0.59767	0.986	P	0.54629	0.757	D	0.98710	1.0704	10	0.18276	T	0.48	.	19.4372	0.94801	0.0:0.0:1.0:0.0	.	869	Q8NCM2	KCNH5_HUMAN	K	869	ENSP00000321427:T869K	ENSP00000321427:T869K	T	-	2	0	KCNH5	62244340	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.611000	0.98342	2.828000	0.97474	0.650000	0.86243	ACA		0.498	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		14	188	1	0	1.05e-09	1.14e-09	14	188				
ZFYVE26	23503	broad.mit.edu	37	14	68274151	68274151	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:68274151T>C	ENST00000347230.4	-	5	988	c.850A>G	c.(850-852)Aca>Gca	p.T284A	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.T284A	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	284					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GGCTTTTCTGTGACCTTCTCT	0.597																																						uc001xka.2		NA																	0				ovary(9)|breast(2)	11						c.(850-852)ACA>GCA		zinc finger, FYVE domain containing 26							44.0	46.0	45.0					14																	68274151		2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68274151T>C	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.850A>G	14.37:g.68274151T>C	ENSP00000251119:p.Thr284Ala					ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.T284A|ZFYVE26_uc010tta.1_Missense_Mutation_p.T284A	p.T284A	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	5	989	-			284					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.850A>G	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	T	11.78	1.740154	0.30865	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.26067	1.9;1.76	5.68	-4.29	0.03721	.	0.501056	0.22742	N	0.056198	T	0.11665	0.0284	N	0.22421	0.69	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.06405	0.002;0.001;0.0	T	0.12785	-1.0534	10	0.30078	T	0.28	4.2807	6.1679	0.20400	0.0:0.2753:0.3669:0.3578	.	284;284;284	Q68DK2-4;G3V2D8;Q68DK2	.;.;ZFY26_HUMAN	A	284;263;284	ENSP00000251119:T284A;ENSP00000450603:T284A	ENSP00000251119:T284A	T	-	1	0	ZFYVE26	67343904	0.000000	0.05858	0.000000	0.03702	0.960000	0.62799	-0.077000	0.11394	-0.795000	0.04462	0.533000	0.62120	ACA		0.597	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		9	48	0	0	0	0	9	48				
PCNX	22990	broad.mit.edu	37	14	71444229	71444229	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:71444229A>T	ENST00000304743.2	+	6	1621	c.1175A>T	c.(1174-1176)gAc>gTc	p.D392V	PCNX_ENST00000439984.3_Missense_Mutation_p.D392V|PCNX_ENST00000238570.5_Missense_Mutation_p.D392V	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	392						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		ACGGACCGGGACACTAACAGT	0.498																																						uc001xmo.2		NA																	0				ovary(1)	1						c.(1174-1176)GAC>GTC		pecanex-like 1							81.0	85.0	84.0					14																	71444229		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71444229A>T	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.1175A>T	14.37:g.71444229A>T	ENSP00000304192:p.Asp392Val					PCNX_uc001xmn.3_Missense_Mutation_p.D392V|PCNX_uc010are.1_Missense_Mutation_p.D392V	p.D392V	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	6	1621	+			392					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.1175A>T	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	A	11.35	1.612964	0.28712	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.14893	3.0;2.98;2.47	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.28830	0.0715	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.996;0.996;0.999	T	0.03795	-1.1003	10	0.32370	T	0.25	.	16.3709	0.83357	1.0:0.0:0.0:0.0	.	392;392;392	B2RTR6;Q96RV3;Q96RV3-2	.;PCX1_HUMAN;.	V	392	ENSP00000304192:D392V;ENSP00000238570:D392V;ENSP00000396617:D392V	ENSP00000238570:D392V	D	+	2	0	PCNX	70513982	1.000000	0.71417	0.956000	0.39512	0.113000	0.19764	8.730000	0.91510	2.272000	0.75746	0.528000	0.53228	GAC		0.498	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		10	109	0	0	0	0	10	109				
FAM161B	145483	broad.mit.edu	37	14	74411111	74411111	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:74411111C>G	ENST00000534936.1	-	3	957	c.852G>C	c.(850-852)aaG>aaC	p.K284N	FAM161B_ENST00000286544.3_Missense_Mutation_p.K347N			Q96MY7	F161B_HUMAN	family with sequence similarity 161, member B	284										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						GCTTGGAGATCTTGGCTTCAG	0.542																																						uc001xpd.1		NA																	0				ovary(1)	1						c.(850-852)AAG>AAC		hypothetical protein LOC145483							105.0	106.0	105.0					14																	74411111		2203	4300	6503	SO:0001583	missense	145483							g.chr14:74411111C>G	AA356453	CCDS9822.1, CCDS9822.2	14q24.2	2008-06-05	2008-06-05	2008-06-05		ENSG00000156050			19854	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 44"""	C14orf44			Standard	NM_152445		Approved	FLJ31697	uc001xpd.3	Q96MY7		ENST00000534936.1:c.852G>C	14.37:g.74411111C>G	ENSP00000445326:p.Lys284Asn						p.K284N	NM_152445	NP_689658					3	958	-								B7Z882|J3KNA2	Missense_Mutation	SNP	ENST00000534936.1	37	c.852G>C		.	.	.	.	.	.	.	.	.	.	C	4.364	0.067012	0.08388	.	.	ENSG00000156050	ENST00000286544;ENST00000534936	T;T	0.26518	1.73;1.73	4.88	1.9	0.25705	.	0.523424	0.18802	N	0.130743	T	0.28001	0.0690	M	0.70842	2.15	0.09310	N	1	B	0.21071	0.051	B	0.24541	0.054	T	0.20739	-1.0266	10	0.40728	T	0.16	-3.2996	10.5007	0.44804	0.0:0.397:0.5248:0.0781	.	284	Q96MY7	F161B_HUMAN	N	347;284	ENSP00000286544:K347N;ENSP00000445326:K284N	ENSP00000286544:K347N	K	-	3	2	FAM161B	73480864	0.308000	0.24509	0.095000	0.20976	0.163000	0.22366	0.409000	0.21082	0.198000	0.20407	0.563000	0.77884	AAG		0.542	FAM161B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_152445		17	201	0	0	0	0	17	201				
FAM161B	145483	broad.mit.edu	37	14	74411195	74411195	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:74411195C>T	ENST00000534936.1	-	3	873	c.768G>A	c.(766-768)ttG>ttA	p.L256L	FAM161B_ENST00000286544.3_Silent_p.L319L			Q96MY7	F161B_HUMAN	family with sequence similarity 161, member B	256										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						TGAAGGGCTTCAAAGAAGAGA	0.562																																						uc001xpd.1		NA																	0				ovary(1)	1						c.(766-768)TTG>TTA		hypothetical protein LOC145483							64.0	63.0	63.0					14																	74411195		2203	4300	6503	SO:0001819	synonymous_variant	145483							g.chr14:74411195C>T	AA356453	CCDS9822.1, CCDS9822.2	14q24.2	2008-06-05	2008-06-05	2008-06-05		ENSG00000156050			19854	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 44"""	C14orf44			Standard	NM_152445		Approved	FLJ31697	uc001xpd.3	Q96MY7		ENST00000534936.1:c.768G>A	14.37:g.74411195C>T							p.L256L	NM_152445	NP_689658					3	874	-								B7Z882|J3KNA2	Silent	SNP	ENST00000534936.1	37	c.768G>A																																																																																					0.562	FAM161B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_152445		8	128	0	0	0	0	8	128				
TSHR	7253	broad.mit.edu	37	14	81610460	81610460	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:81610460G>A	ENST00000541158.2	+	11	2380	c.2058G>A	c.(2056-2058)caG>caA	p.Q686Q	TSHR_ENST00000298171.2_Silent_p.Q686Q|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	686					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)	p.Q686H(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	AGGCCTTCCAGAGGGATGTGT	0.478			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																															uc001xvd.1		NA	yes	Dom	yes		14	14q31	7253	Mis	thyroid stimulating hormone receptor	yes	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 	E		thyroid  adenoma	toxic thyroid adenoma		1	Substitution - Missense(1)		lung(1)	thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1)	299						c.(2056-2058)CAG>CAA		thyroid stimulating hormone receptor isoform 1	Thyrotropin Alfa(DB00024)						160.0	154.0	156.0					14																	81610460		2203	4300	6503	SO:0001819	synonymous_variant	7253				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	g.chr14:81610460G>A	AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.2058G>A	14.37:g.81610460G>A							p.Q686Q	NM_000369	NP_000360	P16473	TSHR_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0402)	10	2214	+			686			Cytoplasmic (Potential).		A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Silent	SNP	ENST00000541158.2	37	c.2058G>A	CCDS9872.1																																																																																				0.478	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369		28	228	0	0	0	0	28	228				
TTC7B	145567	broad.mit.edu	37	14	91044465	91044465	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:91044465C>G	ENST00000328459.6	-	19	2416	c.2295G>C	c.(2293-2295)aaG>aaC	p.K765N	TTC7B_ENST00000357056.2_Missense_Mutation_p.K782N|TTC7B_ENST00000554654.1_5'UTR	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	765										NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				GCTGCATGCTCTTCACGTGGG	0.647																																						uc001xyp.2		NA																	0				ovary(2)	2						c.(2293-2295)AAG>AAC		tetratricopeptide repeat domain 7B							59.0	53.0	55.0					14																	91044465		2202	4300	6502	SO:0001583	missense	145567						binding	g.chr14:91044465C>G	BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"""Tetratricopeptide (TTC) repeat domain containing"""	19858	protein-coding gene	gene with protein product			"""tetratricopeptide repeat domain 7 like 1"""	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.2295G>C	14.37:g.91044465C>G	ENSP00000336127:p.Lys765Asn					TTC7B_uc001xyo.2_Missense_Mutation_p.K209N|TTC7B_uc010ats.2_RNA	p.K765N	NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN			19	2417	-		Melanoma(154;0.222)	765			TPR 10.		Q86U24|Q86VT3	Missense_Mutation	SNP	ENST00000328459.6	37	c.2295G>C	CCDS32140.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.82|18.82	3.705299|3.705299	0.68615|0.68615	.|.	.|.	ENSG00000165914|ENSG00000165914	ENST00000557292|ENST00000555768;ENST00000357056;ENST00000328459;ENST00000553972	.|T;T;T	.|0.76709	.|-1.04;-1.04;-1.04	5.48|5.48	4.59|4.59	0.56863|0.56863	.|Protein prenyltransferase (1);Tetratricopeptide repeat-containing (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.72455|0.72455	0.3462|0.3462	N|N	0.13352|0.13352	0.335|0.335	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D	.|0.69078	.|0.997;0.969	.|P;P	.|0.62491	.|0.903;0.708	T|T	0.68014|0.68014	-0.5521|-0.5521	5|10	.|0.19147	.|T	.|0.46	-24.1417|-24.1417	9.3922|9.3922	0.38381|0.38381	0.0:0.7938:0.0:0.2062|0.0:0.7938:0.0:0.2062	.|.	.|765;782	.|Q86TV6;Q86TV6-2	.|TTC7B_HUMAN;.	Q|N	193|663;782;765;252	.|ENSP00000349564:K782N;ENSP00000336127:K765N;ENSP00000451440:K252N	.|ENSP00000336127:K765N	E|K	-|-	1|3	0|2	TTC7B|TTC7B	90114218|90114218	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.371000|2.371000	0.44248|0.44248	1.313000|1.313000	0.45069|0.45069	0.655000|0.655000	0.94253|0.94253	GAG|AAG		0.647	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411364.2			4	16	0	0	0	0	4	16				
PRIMA1	145270	broad.mit.edu	37	14	94187823	94187823	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:94187823G>A	ENST00000393140.1	-	5	531	c.429C>T	c.(427-429)aaC>aaT	p.N143N	PRIMA1_ENST00000393143.1_Silent_p.N143N|PRIMA1_ENST00000316227.3_3'UTR	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN	proline rich membrane anchor 1	143					establishment of localization in cell (GO:0051649)|neurotransmitter catabolic process (GO:0042135)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|synapse (GO:0045202)				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		CTACTCCTTTGTTGCTCTGCG	0.572																																						uc001ybw.1		NA																	0				large_intestine(1)|skin(1)	2						c.(427-429)AAC>AAT		proline rich membrane anchor 1 precursor							140.0	100.0	114.0					14																	94187823		2203	4300	6503	SO:0001819	synonymous_variant	145270				neurotransmitter catabolic process	cell junction|integral to membrane|synapse		g.chr14:94187823G>A		CCDS9912.1	14q32.13	2008-08-29			ENSG00000175785	ENSG00000175785			18319	protein-coding gene	gene with protein product	"""membrane anchor of acetylcholinesterase"""	613851				11804574	Standard	NM_178013		Approved	PRIMA	uc001ybw.1	Q86XR5	OTTHUMG00000141313	ENST00000393140.1:c.429C>T	14.37:g.94187823G>A						PRIMA1_uc001ybx.1_RNA	p.N143N	NM_178013	NP_821092	Q86XR5	PRIMA_HUMAN		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)	5	471	-		all_cancers(154;0.127)	143			Cytoplasmic (Potential).		Q86XR6	Silent	SNP	ENST00000393140.1	37	c.429C>T	CCDS9912.1																																																																																				0.572	PRIMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280658.1	NM_178013		5	75	0	0	0	0	5	75				
CLMN	79789	broad.mit.edu	37	14	95670573	95670573	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:95670573C>T	ENST00000298912.4	-	9	1226	c.1113G>A	c.(1111-1113)gcG>gcA	p.A371A		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	371					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.A371A(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		TGTCTGACAGCGCATGGCTGG	0.542																																						uc001yef.2		NA																	1	Substitution - coding silent(1)		large_intestine(1)		0						c.(1111-1113)GCG>GCA		calmin							122.0	120.0	121.0					14																	95670573		2203	4300	6503	SO:0001819	synonymous_variant	79789					integral to membrane	actin binding	g.chr14:95670573C>T	AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.1113G>A	14.37:g.95670573C>T							p.A371A	NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN		Epithelial(152;0.193)	9	1229	-			371					B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Silent	SNP	ENST00000298912.4	37	c.1113G>A	CCDS9933.1																																																																																				0.542	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2			19	140	0	0	0	0	19	140				
ATP10A	57194	broad.mit.edu	37	15	25925395	25925395	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:25925395T>A	ENST00000356865.6	-	20	3850	c.3739A>T	c.(3739-3741)Att>Ttt	p.I1247F		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1247					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|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)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCATTGTAAATCAAAGCCACG	0.478																																						uc010ayu.2		NA																	0				pancreas(2)|ovary(1)|breast(1)|liver(1)	5						c.(3739-3741)ATT>TTT		ATPase, class V, type 10A							149.0	132.0	138.0					15																	25925395		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25925395T>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.3739A>T	15.37:g.25925395T>A	ENSP00000349325:p.Ile1247Phe						p.I1247F	NM_024490	NP_077816	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	20	3845	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	1247			Helical; (Potential).		Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.3739A>T	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	T	15.43	2.832162	0.50845	.	.	ENSG00000206190	ENST00000356865	T	0.72725	-0.68	5.07	-3.9	0.04181	.	0.432974	0.26244	N	0.025493	T	0.59865	0.2225	L	0.51422	1.61	0.37927	D	0.931897	B	0.21821	0.061	B	0.23275	0.045	T	0.49283	-0.8956	10	0.42905	T	0.14	-2.7442	13.3229	0.60442	0.0:0.7228:0.1279:0.1493	.	1247	O60312	AT10A_HUMAN	F	1247	ENSP00000349325:I1247F	ENSP00000349325:I1247F	I	-	1	0	ATP10A	23476488	0.997000	0.39634	0.834000	0.33040	0.752000	0.42762	0.487000	0.22356	-0.535000	0.06307	-0.256000	0.11100	ATT		0.478	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		14	141	0	0	0	0	14	141				
NUTM1	256646	broad.mit.edu	37	15	34648388	34648388	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:34648388C>G	ENST00000333756.4	+	7	2250	c.2095C>G	c.(2095-2097)Cag>Gag	p.Q699E	NUTM1_ENST00000438749.3_Missense_Mutation_p.Q717E|NUTM1_ENST00000537011.1_Missense_Mutation_p.Q727E	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	699						cytoplasm (GO:0005737)|nucleus (GO:0005634)											CCCCATGGCTCAGAGTTATGA	0.572																																						uc001zif.2		NA								T					BRD3|BRD4		lethal midline carcinoma	BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	0				midline_organs(25)|ovary(2)|lung(2)|skin(1)	30						c.(2095-2097)CAG>GAG		nuclear protein in testis							37.0	40.0	39.0					15																	34648388		2201	4298	6499	SO:0001583	missense	256646					cytoplasm|nucleus		g.chr15:34648388C>G	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.2095C>G	15.37:g.34648388C>G	ENSP00000329448:p.Gln699Glu					C15orf55_uc010ucc.1_Missense_Mutation_p.Q727E|C15orf55_uc010ucd.1_Missense_Mutation_p.Q717E	p.Q699E	NM_175741	NP_786883	Q86Y26	NUT_HUMAN		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)	7	2250	+		all_lung(180;2.78e-08)	699					B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Missense_Mutation	SNP	ENST00000333756.4	37	c.2095C>G	CCDS32190.1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.665939	0.29604	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000333756	T;T;T	0.09911	2.94;2.93;2.94	5.0	2.98	0.34508	.	1.206010	0.05878	N	0.625974	T	0.11580	0.0282	L	0.50333	1.59	0.09310	N	1	B;B;B	0.31817	0.231;0.341;0.231	B;B;B	0.28011	0.039;0.085;0.039	T	0.30060	-0.9991	10	0.56958	D	0.05	.	5.4993	0.16819	0.209:0.6892:0.0:0.1018	.	717;727;699	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	E	727;717;699	ENSP00000444896:Q727E;ENSP00000407031:Q717E;ENSP00000329448:Q699E	ENSP00000329448:Q699E	Q	+	1	0	C15orf55	32435680	0.004000	0.15560	0.002000	0.10522	0.058000	0.15608	1.194000	0.32174	1.340000	0.45581	0.655000	0.94253	CAG		0.572	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		6	82	0	0	0	0	6	82				
MAPKBP1	23005	broad.mit.edu	37	15	42104154	42104154	+	Splice_Site	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:42104154G>A	ENST00000456763.2	+	6	523		c.e6-1		MAPKBP1_ENST00000260357.7_Splice_Site|MAPKBP1_ENST00000221214.6_Splice_Site|MAPKBP1_ENST00000457542.2_Splice_Site|MAPKBP1_ENST00000514566.1_Splice_Site	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1											breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CCTCCCTGCAGAGTGGGCACA	0.607											OREG0023077	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001zok.3		NA																	0				central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10						c.e6-1		mitogen-activated protein kinase binding protein							77.0	67.0	71.0					15																	42104154		2203	4300	6503	SO:0001630	splice_region_variant	23005							g.chr15:42104154G>A	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.328-1G>A	15.37:g.42104154G>A			OREG0023077	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	906	MAPKBP1_uc001zoj.3_Splice_Site_p.S110_splice|MAPKBP1_uc010bcj.2_Splice_Site|MAPKBP1_uc010bci.2_Splice_Site_p.S110_splice|MAPKBP1_uc010udb.1_Splice_Site|MAPKBP1_uc010bck.2_Splice_Site|MAPKBP1_uc010bcl.2_5'Flank	p.S110_splice	NM_001128608	NP_001122080	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	6	614	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)						A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Splice_Site	SNP	ENST00000456763.2	37	c.328_splice	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	g	22.6	4.317342	0.81469	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000456763;ENST00000514566;ENST00000510535	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2791	0.94044	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAPKBP1	39891446	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.869000	0.99810	2.553000	0.86117	0.645000	0.84053	.		0.607	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994	Intron	10	91	0	0	0	0	10	91				
EHD4	30844	broad.mit.edu	37	15	42211429	42211429	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:42211429G>C	ENST00000220325.4	-	4	986	c.903C>G	c.(901-903)atC>atG	p.I301M	CTD-2382E5.4_ENST00000564168.1_RNA	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	301					cellular response to growth factor stimulus (GO:0071363)|endocytic recycling (GO:0032456)|pinocytosis (GO:0006907)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein homooligomerization (GO:0051260)|regulation of endocytosis (GO:0030100)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		TCGCTCGCTTGATGAGGTCGT	0.632																																						uc001zot.2		NA																	0				ovary(2)	2						c.(901-903)ATC>ATG		EH-domain containing 4							49.0	45.0	47.0					15																	42211429		2203	4299	6502	SO:0001583	missense	30844				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr15:42211429G>C	AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966		"""EF-hand domain containing"""	3245	protein-coding gene	gene with protein product		605892		PAST4		10673336, 11533061	Standard	NM_139265		Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.903C>G	15.37:g.42211429G>C	ENSP00000220325:p.Ile301Met						p.I301M	NM_139265	NP_644670	Q9H223	EHD4_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)	4	966	-		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	301					Q9HAR1|Q9NZN2	Missense_Mutation	SNP	ENST00000220325.4	37	c.903C>G	CCDS10081.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550484	0.65311	.	.	ENSG00000103966	ENST00000220325	D	0.95853	-3.83	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.95604	0.8571	M	0.84082	2.675	0.80722	D	1	P	0.47545	0.897	P	0.45681	0.49	D	0.95316	0.8416	10	0.51188	T	0.08	-34.1361	12.4653	0.55755	0.0876:0.0:0.9124:0.0	.	301	Q9H223	EHD4_HUMAN	M	301	ENSP00000220325:I301M	ENSP00000220325:I301M	I	-	3	3	EHD4	39998721	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.085000	0.50151	2.404000	0.81709	0.650000	0.86243	ATC		0.632	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252737.2	NM_139265		6	98	0	0	0	0	6	98				
CDAN1	146059	broad.mit.edu	37	15	43021249	43021249	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:43021249T>G	ENST00000356231.3	-	19	2640	c.2617A>C	c.(2617-2619)Att>Ctt	p.I873L		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	873					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		TTTGATCCAATTCTTTCTGCC	0.532																																						uc001zql.2		NA																	0				ovary(2)	2						c.(2617-2619)ATT>CTT		codanin 1							119.0	114.0	115.0					15																	43021249		2203	4299	6502	SO:0001583	missense	146059					integral to membrane	protein binding	g.chr15:43021249T>G	AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"""congenital dyserythropoietic anemia, type I"""			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.2617A>C	15.37:g.43021249T>G	ENSP00000348564:p.Ile873Leu					CDAN1_uc001zqj.2_RNA|CDAN1_uc001zqk.2_Missense_Mutation_p.I199L	p.I873L	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN		GBM - Glioblastoma multiforme(94;2.49e-07)	19	2734	-		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)	873					Q6NYD0|Q7Z7L5|Q969N3	Missense_Mutation	SNP	ENST00000356231.3	37	c.2617A>C	CCDS32209.1	.	.	.	.	.	.	.	.	.	.	T	17.58	3.425019	0.62733	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	T	0.75367	-0.93	5.4	4.29	0.51040	.	0.058885	0.64402	D	0.000002	T	0.63850	0.2546	L	0.40543	1.245	0.36895	D	0.890127	P;B	0.34462	0.454;0.079	B;B	0.34452	0.183;0.015	T	0.70949	-0.4733	10	0.59425	D	0.04	-10.3752	8.6919	0.34271	0.0:0.144:0.0:0.856	.	873;871	Q8IWY9;C9K0H8	CDAN1_HUMAN;.	L	873;871	ENSP00000348564:I873L	ENSP00000267892:I871L	I	-	1	0	CDAN1	40808541	1.000000	0.71417	0.996000	0.52242	0.941000	0.58515	2.909000	0.48758	2.039000	0.60335	0.379000	0.24179	ATT		0.532	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	XM_085300		11	152	0	0	0	0	11	152				
TP53BP1	7158	broad.mit.edu	37	15	43720272	43720272	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:43720272C>T	ENST00000263801.3	-	18	4007	c.3755G>A	c.(3754-3756)cGt>cAt	p.R1252H	TP53BP1_ENST00000382044.4_Missense_Mutation_p.R1257H|TP53BP1_ENST00000382039.3_Missense_Mutation_p.R1257H|TP53BP1_ENST00000450115.2_Missense_Mutation_p.R1257H	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1252					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TGTAATGACACGAGTGACAAG	0.423								Other conserved DNA damage response genes																														uc001zrs.2		NA																	0				ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7						c.(3754-3756)CGT>CAT	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	tumor protein p53 binding protein 1 isoform 3							232.0	210.0	218.0					15																	43720272		2201	4298	6499	SO:0001583	missense	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43720272C>T	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.3755G>A	15.37:g.43720272C>T	ENSP00000263801:p.Arg1252His					TP53BP1_uc010udp.1_Missense_Mutation_p.R1252H|TP53BP1_uc001zrq.3_Missense_Mutation_p.R1257H|TP53BP1_uc001zrr.3_Missense_Mutation_p.R1257H|TP53BP1_uc010udq.1_Missense_Mutation_p.R1257H	p.R1252H	NM_005657	NP_005648	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	18	3903	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	1252					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	c.3755G>A	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	C	35	5.592239	0.96590	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	T;T;T;T	0.26518	2.01;2.0;1.73;1.98	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.43389	0.1245	L	0.34521	1.04	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.991;0.997;0.999;0.999	T	0.19063	-1.0317	10	0.51188	T	0.08	-11.9374	19.7689	0.96353	0.0:1.0:0.0:0.0	.	1257;1252;1257;1257	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	H	1252;1257;1257;1257	ENSP00000263801:R1252H;ENSP00000371475:R1257H;ENSP00000371470:R1257H;ENSP00000393497:R1257H	ENSP00000263801:R1252H	R	-	2	0	TP53BP1	41507564	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.395000	0.79876	2.747000	0.94245	0.650000	0.86243	CGT		0.423	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			22	256	0	0	0	0	22	256				
CATSPER2	117155	broad.mit.edu	37	15	43940128	43940128	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:43940128G>A	ENST00000321596.5	-	2	331	c.132C>T	c.(130-132)atC>atT	p.I44I	CATSPER2_ENST00000464721.1_Intron|CATSPER2_ENST00000381761.1_Silent_p.I50I|CATSPER2_ENST00000354127.4_Silent_p.I44I|CATSPER2_ENST00000396879.1_Silent_p.I44I|STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000355438.2_Silent_p.I44I			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	44					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GTAACTCCCTGATAGTGTGCC	0.453																																						uc001zsh.2		NA																	0				ovary(1)	1						c.(130-132)ATC>ATT		sperm-associated cation channel 2 isoform 2							118.0	123.0	122.0					15																	43940128		2199	4296	6495	SO:0001819	synonymous_variant	117155				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity	g.chr15:43940128G>A	AF411817	CCDS10099.1, CCDS32216.1, CCDS73714.1	15q15.3	2011-07-05			ENSG00000166762	ENSG00000166762		"""Voltage-gated ion channels / Cation channels, sperm associated"""	18810	protein-coding gene	gene with protein product		607249				11675491, 16382101	Standard	NM_172095		Approved		uc001zsh.3	Q96P56	OTTHUMG00000059902	ENST00000321596.5:c.132C>T	15.37:g.43940128G>A						CATSPER2_uc010bdm.2_RNA|CATSPER2_uc001zsi.2_Silent_p.I44I|CATSPER2_uc001zsj.2_Silent_p.I44I|CATSPER2_uc001zsk.2_Silent_p.I44I|CATSPER2_uc001zsl.1_Intron	p.I44I	NM_172095	NP_742093	Q96P56	CTSR2_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	2	347	-		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	44			Cytoplasmic (Potential).		Q8NHT9|Q96P54|Q96P55	Silent	SNP	ENST00000321596.5	37	c.132C>T	CCDS10099.1																																																																																				0.453	CATSPER2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133151.2	NM_054020		13	210	0	0	0	0	13	210				
SQRDL	58472	broad.mit.edu	37	15	45981265	45981265	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:45981265T>C	ENST00000260324.7	+	9	1531	c.1145T>C	c.(1144-1146)gTg>gCg	p.V382A	SQRDL_ENST00000568606.1_Missense_Mutation_p.V382A	NM_021199.3	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	382					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial inner membrane (GO:0005743)	sulfide:quinone oxidoreductase activity (GO:0070224)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		TGTCCACTGGTGACCGGCTAC	0.393																																						uc001zvt.2		NA																	0				ovary(1)	1						c.(1144-1146)GTG>GCG		sulfide dehydrogenase like precursor							146.0	150.0	149.0					15																	45981265		2198	4297	6495	SO:0001583	missense	58472						oxidoreductase activity	g.chr15:45981265T>C	AF042284	CCDS10127.1	15q21.1	2010-08-05			ENSG00000137767	ENSG00000137767			20390	protein-coding gene	gene with protein product						10810093, 10224084	Standard	NM_021199		Approved	CGI-44	uc001zvu.4	Q9Y6N5	OTTHUMG00000131476	ENST00000260324.7:c.1145T>C	15.37:g.45981265T>C	ENSP00000260324:p.Val382Ala					SQRDL_uc001zvu.2_Missense_Mutation_p.V382A|SQRDL_uc001zvv.2_Missense_Mutation_p.V382A	p.V382A	NM_021199	NP_067022	Q9Y6N5	SQRD_HUMAN		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)	10	1334	+		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)	382					Q9UQM8	Missense_Mutation	SNP	ENST00000260324.7	37	c.1145T>C	CCDS10127.1	.	.	.	.	.	.	.	.	.	.	T	31	5.078367	0.94000	.	.	ENSG00000137767	ENST00000260324	T	0.40756	1.02	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.62011	0.2393	M	0.85373	2.75	0.80722	D	1	P	0.47253	0.892	P	0.53006	0.715	T	0.68823	-0.5307	10	0.87932	D	0	.	15.0017	0.71476	0.0:0.0:0.0:1.0	.	382	Q9Y6N5	SQRD_HUMAN	A	382	ENSP00000260324:V382A	ENSP00000260324:V382A	V	+	2	0	SQRDL	43768557	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.210000	0.71456	0.533000	0.62120	GTG		0.393	SQRDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254319.2			33	307	0	0	0	0	33	307				
AP4E1	23431	broad.mit.edu	37	15	51221216	51221216	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:51221216C>T	ENST00000261842.5	+	6	659	c.553C>T	c.(553-555)Cga>Tga	p.R185*	AP4E1_ENST00000560508.1_Nonsense_Mutation_p.R110*	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	185					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		GGAGATTGTACGAAGAAAAGC	0.318																																						uc001zyx.1		NA																	0					0						c.(553-555)CGA>TGA		adaptor-related protein complex 4, epsilon 1							84.0	80.0	81.0					15																	51221216		2196	4294	6490	SO:0001587	stop_gained	23431				intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity	g.chr15:51221216C>T	AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.553C>T	15.37:g.51221216C>T	ENSP00000261842:p.Arg185*					AP4E1_uc010ufi.1_Nonsense_Mutation_p.R185*|AP4E1_uc010ufj.1_RNA|AP4E1_uc010ufk.1_RNA	p.R185*	NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN		all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)	6	583	+			185					A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Nonsense_Mutation	SNP	ENST00000261842.5	37	c.553C>T	CCDS32240.1	.	.	.	.	.	.	.	.	.	.	C	34	5.389158	0.95988	.	.	ENSG00000081014	ENST00000261842	.	.	.	5.28	3.31	0.37934	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.8107	12.2728	0.54716	0.447:0.553:0.0:0.0	.	.	.	.	X	185	.	ENSP00000261842:R185X	R	+	1	2	AP4E1	49008508	0.998000	0.40836	1.000000	0.80357	0.992000	0.81027	0.818000	0.27295	0.545000	0.28902	0.591000	0.81541	CGA		0.318	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1			6	90	0	0	0	0	6	90				
HERC1	8925	broad.mit.edu	37	15	64017534	64017534	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:64017534C>T	ENST00000443617.2	-	18	3612	c.3525G>A	c.(3523-3525)acG>acA	p.T1175T		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1175					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TGAACAGTGGCGTTTTCATCC	0.473																																						uc002amp.2		NA																	0				ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						c.(3523-3525)ACG>ACA		hect domain and RCC1-like domain 1							78.0	77.0	77.0					15																	64017534		2029	4183	6212	SO:0001819	synonymous_variant	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:64017534C>T	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.3525G>A	15.37:g.64017534C>T						HERC1_uc010uil.1_Intron	p.T1175T	NM_003922	NP_003913	Q15751	HERC1_HUMAN			18	3673	-			1175					Q8IW65	Silent	SNP	ENST00000443617.2	37	c.3525G>A	CCDS45277.1																																																																																				0.473	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		8	63	0	0	0	0	8	63				
ZNF609	23060	broad.mit.edu	37	15	64792307	64792307	+	Missense_Mutation	SNP	C	C	T	rs373377345		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:64792307C>T	ENST00000326648.3	+	1	817	c.689C>T	c.(688-690)cCg>cTg	p.P230L	ZNF609_ENST00000416172.1_Missense_Mutation_p.P230L	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	230						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGAACTAAACCGGAGCCAGAG	0.532																																						uc002ann.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(688-690)CCG>CTG		zinc finger protein 609							58.0	53.0	54.0					15																	64792307		2203	4299	6502	SO:0001583	missense	23060					nucleus	zinc ion binding	g.chr15:64792307C>T	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.689C>T	15.37:g.64792307C>T	ENSP00000316527:p.Pro230Leu					ZNF609_uc010bgy.2_Missense_Mutation_p.P230L	p.P230L	NM_015042	NP_055857	O15014	ZN609_HUMAN			1	689	+			230					Q0D2I2	Missense_Mutation	SNP	ENST00000326648.3	37	c.689C>T	CCDS32270.1	.	.	.	.	.	.	.	.	.	.	.	13.57	2.275532	0.40294	.	.	ENSG00000180357	ENST00000416172;ENST00000326648	T	0.41758	0.99	5.66	4.69	0.59074	.	0.181813	0.49305	D	0.000145	T	0.20981	0.0505	N	0.08118	0	0.44702	D	0.997698	P;B	0.47106	0.89;0.072	B;B	0.33890	0.172;0.016	T	0.07829	-1.0752	10	0.30854	T	0.27	-12.72	16.5653	0.84577	0.1306:0.8694:0.0:0.0	.	230;230	E7ERY8;O15014	.;ZN609_HUMAN	L	230	ENSP00000316527:P230L	ENSP00000316527:P230L	P	+	2	0	ZNF609	62579360	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.027000	0.49697	2.830000	0.97506	0.655000	0.94253	CCG		0.532	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		8	60	0	0	0	0	8	60				
ISLR	3671	broad.mit.edu	37	15	74468208	74468208	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:74468208G>A	ENST00000249842.3	+	2	1366	c.1009G>A	c.(1009-1011)Gag>Aag	p.E337K	ISLR_ENST00000395118.1_Missense_Mutation_p.E337K|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	337	Ig-like.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						GGGCAGTGCTGAGAGCTCAGT	0.622																																						uc002axg.1		NA																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(1009-1011)GAG>AAG		immunoglobulin superfamily containing							55.0	50.0	52.0					15																	74468208		2198	4297	6495	SO:0001583	missense	3671				cell adhesion	extracellular region		g.chr15:74468208G>A	AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009		"""Immunoglobulin superfamily / I-set domain containing"""	6133	protein-coding gene	gene with protein product		602059				9325048	Standard	NM_005545		Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.1009G>A	15.37:g.74468208G>A	ENSP00000249842:p.Glu337Lys					ISLR_uc002axh.1_Missense_Mutation_p.E337K	p.E337K	NM_005545	NP_005536	O14498	ISLR_HUMAN			2	1291	+			337			Ig-like.			Missense_Mutation	SNP	ENST00000249842.3	37	c.1009G>A	CCDS10260.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.570442	0.28003	.	.	ENSG00000129009	ENST00000249842;ENST00000395118	T;T	0.68903	-0.36;-0.36	4.54	2.57	0.30868	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.43919	U	0.000503	T	0.67163	0.2864	L	0.47016	1.485	0.44595	D	0.997563	P	0.46859	0.885	P	0.51324	0.666	T	0.61603	-0.7029	10	0.25751	T	0.34	.	14.1871	0.65612	0.0:0.433:0.567:0.0	.	337	O14498	ISLR_HUMAN	K	337	ENSP00000249842:E337K;ENSP00000378550:E337K	ENSP00000249842:E337K	E	+	1	0	ISLR	72255261	0.975000	0.34042	0.514000	0.27761	0.005000	0.04900	1.672000	0.37523	0.319000	0.23209	-0.479000	0.04858	GAG		0.622	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269044.1	NM_005545		4	39	0	0	0	0	4	39				
SIN3A	25942	broad.mit.edu	37	15	75702243	75702243	+	Silent	SNP	C	C	T	rs142678572	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:75702243C>T	ENST00000394947.3	-	8	1565	c.1251G>A	c.(1249-1251)ccG>ccA	p.P417P	SIN3A_ENST00000360439.4_Silent_p.P417P|SIN3A_ENST00000394949.4_Silent_p.P417P	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						TGGGCCTCTGCGGCTTGTTGT	0.498																																						uc002bai.2		NA																	0				skin(3)|ovary(1)|lung(1)	5						c.(1249-1251)CCG>CCA		transcriptional co-repressor Sin3A		C	,,	1,4393	2.1+/-5.4	0,1,2196	127.0	124.0	125.0		1251,1251,1251	-9.9	0.6	15	dbSNP_134	125	1,8587	1.2+/-3.3	0,1,4293	no	coding-synonymous,coding-synonymous,coding-synonymous	SIN3A	NM_001145357.1,NM_001145358.1,NM_015477.2	,,	0,2,6489	TT,TC,CC		0.0116,0.0228,0.0154	,,	417/1274,417/1274,417/1274	75702243	2,12980	2197	4294	6491	SO:0001819	synonymous_variant	25942				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding	g.chr15:75702243C>T	AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.1251G>A	15.37:g.75702243C>T						SIN3A_uc002baj.2_Silent_p.P417P|SIN3A_uc010uml.1_Silent_p.P417P	p.P417P	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN			8	1510	-			417			Interaction with REST (By similarity).			Silent	SNP	ENST00000394947.3	37	c.1251G>A	CCDS10279.1																																																																																				0.498	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477		15	139	0	0	0	0	15	139				
RASGRF1	5923	broad.mit.edu	37	15	79327554	79327554	+	Splice_Site	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:79327554T>C	ENST00000419573.3	-	6	1153		c.e6-2		RASGRF1_ENST00000558480.2_Splice_Site|RASGRF1_ENST00000560334.1_Splice_Site	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1						activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ATGGTTTCGCTGAAAGAGAAA	0.562																																						uc002beq.2		NA																	0				skin(4)|ovary(1)|central_nervous_system(1)	6						c.e6-1		Ras protein-specific guanine							30.0	28.0	29.0					15																	79327554		2196	4293	6489	SO:0001630	splice_region_variant	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79327554T>C	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.879-2A>G	15.37:g.79327554T>C						RASGRF1_uc002bep.2_Splice_Site_p.S293_splice|RASGRF1_uc010blm.1_Splice_Site_p.S215_splice|RASGRF1_uc002ber.3_Splice_Site_p.S293_splice	p.S293_splice	NM_002891	NP_002882	Q13972	RGRF1_HUMAN			6	1254	-								F8VPA5|H0YKF2|J3KQP9|Q16027	Splice_Site	SNP	ENST00000419573.3	37	c.879_splice	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	T	16.00	2.997119	0.54147	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6038	0.56511	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RASGRF1	77114609	1.000000	0.71417	0.827000	0.32855	0.535000	0.34838	7.673000	0.83973	2.069000	0.61940	0.397000	0.26171	.		0.562	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891	Intron	3	16	0	0	0	0	3	16				
FSD2	123722	broad.mit.edu	37	15	83456014	83456014	+	Missense_Mutation	SNP	C	C	A	rs376897096		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:83456014C>A	ENST00000334574.8	-	2	310	c.129G>T	c.(127-129)atG>atT	p.M43I	FSD2_ENST00000541889.1_Missense_Mutation_p.M43I			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	43										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						CTACTTTCCTCATCCTAGTGT	0.483																																						uc002bjd.2		NA																	0				central_nervous_system(1)	1						c.(127-129)ATG>ATT		fibronectin type III and SPRY domain containing							163.0	155.0	158.0					15																	83456014		1989	4170	6159	SO:0001583	missense	123722							g.chr15:83456014C>A	AK122875	CCDS45332.1, CCDS61738.1	15q25.2	2013-02-11	2006-01-11	2006-01-11		ENSG00000186628		"""Fibronectin type III domain containing"""	18024	protein-coding gene	gene with protein product			"""SPRY domain containing 1"""	SPRYD1			Standard	NM_001007122		Approved	RP11-127F21	uc002bjd.2	A1L4K1		ENST00000334574.8:c.129G>T	15.37:g.83456014C>A	ENSP00000335651:p.Met43Ile					FSD2_uc010uol.1_Missense_Mutation_p.M43I|FSD2_uc010uom.1_Missense_Mutation_p.M43I	p.M43I	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN			2	296	-			43					B3KVG1|B7ZM02	Missense_Mutation	SNP	ENST00000334574.8	37	c.129G>T	CCDS45332.1	.	.	.	.	.	.	.	.	.	.	C	1.754	-0.488570	0.04352	.	.	ENSG00000186628	ENST00000334574;ENST00000541889	T;T	0.44881	0.91;0.91	4.74	-0.604	0.11626	.	1.516800	0.03722	N	0.252019	T	0.31358	0.0794	L	0.40543	1.245	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.10042	-1.0647	10	0.17369	T	0.5	-1.0585	5.3247	0.15901	0.0:0.4083:0.266:0.3257	.	43;43	B7ZM02;A1L4K1	.;FSD2_HUMAN	I	43	ENSP00000335651:M43I;ENSP00000444078:M43I	ENSP00000335651:M43I	M	-	3	0	FSD2	81253068	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.303000	0.08210	-0.269000	0.09298	-0.150000	0.13652	ATG		0.483	FSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418385.1	NM_001007122		23	231	1	0	8.25e-16	9.1e-16	23	231				
C15orf40	123207	broad.mit.edu	37	15	83679041	83679041	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:83679041G>A	ENST00000513601.2	-	2	193	c.186C>T	c.(184-186)tgC>tgT	p.C62C	C15orf40_ENST00000304177.5_Silent_p.C35C|RP11-382A20.7_ENST00000570202.1_RNA|C15orf40_ENST00000538348.2_Silent_p.C62C|C15orf40_ENST00000565712.1_Intron|C15orf40_ENST00000451195.3_Silent_p.C62C|RP11-382A20.5_ENST00000566841.1_RNA			Q8WUR7	CO040_HUMAN	chromosome 15 open reading frame 40	62										large_intestine(3)|lung(2)|skin(1)	6						CTATGGTGACGCATCCTTTAG	0.483																																						uc010uoo.1		NA																	0				skin(1)	1						c.(184-186)TGC>TGT		hypothetical protein LOC123207 isoform d							232.0	203.0	212.0					15																	83679041		2203	4300	6503	SO:0001819	synonymous_variant	123207							g.chr15:83679041G>A	BC019820	CCDS32312.1, CCDS32312.2, CCDS53968.1, CCDS53969.1	15q25.2	2012-05-30			ENSG00000169609	ENSG00000169609			28443	protein-coding gene	gene with protein product							Standard	NM_144597		Approved	MGC29937	uc010uoo.1	Q8WUR7	OTTHUMG00000160473	ENST00000513601.2:c.186C>T	15.37:g.83679041G>A						C15orf40_uc010uon.1_Silent_p.C62C|C15orf40_uc002bjm.2_Silent_p.C62C|C15orf40_uc010uop.1_Silent_p.C62C|C15orf40_uc010uoq.1_RNA|C15orf40_uc010uor.1_Silent_p.C62C	p.C62C	NM_001160115	NP_001153587	Q8WUR7	CO040_HUMAN			2	220	-			35					A6NIC9|B2R5E7|F5GX92|F8WD31|G5EA00	Silent	SNP	ENST00000513601.2	37	c.186C>T	CCDS32312.2																																																																																				0.483	C15orf40-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360737.2	NM_144597		26	220	0	0	0	0	26	220				
BTBD1	53339	broad.mit.edu	37	15	83698895	83698895	+	Nonsense_Mutation	SNP	G	G	A	rs201223863		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:83698895G>A	ENST00000261721.4	-	5	1250	c.1048C>T	c.(1048-1050)Cga>Tga	p.R350*	RP11-382A20.7_ENST00000570202.1_RNA|BTBD1_ENST00000560015.1_5'UTR|RP11-382A20.6_ENST00000568441.1_RNA|RP11-382A20.5_ENST00000566841.1_RNA|BTBD1_ENST00000379403.2_Nonsense_Mutation_p.R350*	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	350					protein ubiquitination (GO:0016567)|regulation of protein binding (GO:0043393)	cytoplasmic mRNA processing body (GO:0000932)|protein complex (GO:0043234)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		TACCTGATTCGATCACTCGTC	0.448																																						uc002bjn.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1048-1050)CGA>TGA		BTB (POZ) domain containing 1 isoform 1							291.0	304.0	300.0					15																	83698895		2203	4300	6503	SO:0001587	stop_gained	53339					cytoplasmic mRNA processing body|protein complex	protein binding	g.chr15:83698895G>A	AF355402	CCDS10322.1, CCDS32313.1	15q24	2013-01-08			ENSG00000064726	ENSG00000064726		"""BTB/POZ domain containing"""	1120	protein-coding gene	gene with protein product		608530					Standard	XM_006720573		Approved		uc002bjn.3	Q9H0C5	OTTHUMG00000147364	ENST00000261721.4:c.1048C>T	15.37:g.83698895G>A	ENSP00000261721:p.Arg350*					BTBD1_uc002bjo.2_Nonsense_Mutation_p.R350*	p.R350*	NM_025238	NP_079514	Q9H0C5	BTBD1_HUMAN		all cancers(203;0.000186)	5	1251	-			350					A6NMI8|Q9BX71|Q9NWN4	Nonsense_Mutation	SNP	ENST00000261721.4	37	c.1048C>T	CCDS10322.1	.	.	.	.	.	.	.	.	.	.	G	34	5.367585	0.95900	.	.	ENSG00000064726	ENST00000261721;ENST00000379403	.	.	.	5.15	4.23	0.50019	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-15.4214	13.058	0.58992	0.0:0.0:0.7073:0.2927	.	.	.	.	X	350	.	ENSP00000261721:R350X	R	-	1	2	BTBD1	81489899	1.000000	0.71417	0.063000	0.19743	0.973000	0.67179	2.913000	0.48790	1.284000	0.44531	0.561000	0.74099	CGA		0.448	BTBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304008.1			73	687	0	0	0	0	73	687				
MESP2	145873	broad.mit.edu	37	15	90321331	90321331	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:90321331G>A	ENST00000341735.3	+	2	960	c.960G>A	c.(958-960)ctG>ctA	p.L320L	MESP2_ENST00000558723.1_3'UTR|MESP2_ENST00000560219.1_Silent_p.L22L	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 2	320					mesodermal cell migration (GO:0008078)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			GTCTGTCGCTGGGAGCTCCAT	0.592																																						uc002bon.2		NA																	0					0						c.(958-960)CTG>CTA		mesoderm posterior 2 homolog							49.0	52.0	51.0					15																	90321331		1990	4169	6159	SO:0001819	synonymous_variant	145873				Notch signaling pathway	nucleus	DNA binding	g.chr15:90321331G>A		CCDS42078.1	15q26.1	2014-06-30	2014-06-30			ENSG00000188095		"""Basic helix-loop-helix proteins"""	29659	protein-coding gene	gene with protein product		605195	"""mesoderm posterior 2 homolog (mouse)"""			11578861	Standard	NM_001039958		Approved	SCDO2, bHLHc6	uc002bon.3	Q0VG99		ENST00000341735.3:c.960G>A	15.37:g.90321331G>A						MESP2_uc010uqa.1_Silent_p.L22L	p.L320L	NM_001039958	NP_001035047	Q0VG99	MESP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)		2	960	+	Lung NSC(78;0.0221)|all_lung(78;0.0448)		320					Q7RTU2	Silent	SNP	ENST00000341735.3	37	c.960G>A	CCDS42078.1																																																																																				0.592	MESP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416421.1	XM_085261		6	91	0	0	0	0	6	91				
ZNF710	374655	broad.mit.edu	37	15	90611533	90611533	+	Silent	SNP	C	C	T	rs144375764		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:90611533C>T	ENST00000268154.4	+	2	1415	c.1164C>T	c.(1162-1164)ttC>ttT	p.F388F		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	388					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(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			GCCGCGGCTTCGCCTACCCCA	0.642																																						uc002bov.1		NA																	0				central_nervous_system(1)	1						c.(1162-1164)TTC>TTT		zinc finger protein 710		C		0,4400		0,0,2200	38.0	43.0	41.0		1164	-3.2	1.0	15	dbSNP_134	41	4,8592	3.7+/-12.6	0,4,4294	no	coding-synonymous	ZNF710	NM_198526.2		0,4,6494	TT,TC,CC		0.0465,0.0,0.0308		388/665	90611533	4,12992	2200	4298	6498	SO:0001819	synonymous_variant	374655				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:90611533C>T	AK094712	CCDS10358.1	15q26.1	2013-01-08			ENSG00000140548	ENSG00000140548		"""Zinc fingers, C2H2-type"""	25352	protein-coding gene	gene with protein product							Standard	XM_005254905		Approved	DKFZp547K1113, FLJ37393, FLJ00306	uc002bov.2	Q8N1W2	OTTHUMG00000149812	ENST00000268154.4:c.1164C>T	15.37:g.90611533C>T							p.F388F	NM_198526	NP_940928	Q8N1W2	ZN710_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)		2	1287	+	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		388			C2H2-type 4.		A0AVS3|Q6ZMK9|Q8NDU0	Silent	SNP	ENST00000268154.4	37	c.1164C>T	CCDS10358.1																																																																																				0.642	ZNF710-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313423.1	NM_198526		11	56	0	0	0	0	11	56				
GDPGP1	390637	broad.mit.edu	37	15	90784558	90784558	+	Silent	SNP	C	C	A	rs147221532	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:90784558C>A	ENST00000558017.1	+	4	838	c.418C>A	c.(418-420)Cgg>Agg	p.R140R	GDPGP1_ENST00000329600.6_Silent_p.R140R	NM_001013657.2	NP_001013679.2	Q6ZNW5	GDPP1_HUMAN	GDP-D-glucose phosphorylase 1	140					glucose metabolic process (GO:0006006)	cytoplasm (GO:0005737)	GDP-D-glucose phosphorylase activity (GO:0080048)|guanyl-nucleotide exchange factor activity (GO:0005085)|hydrolase activity (GO:0016787)|nucleotide binding (GO:0000166)|nucleotidyltransferase activity (GO:0016779)										CCGTTTGCACCGGGAGCCTGA	0.602																																						uc002bpc.2		NA																	0					0						c.(418-420)CGG>AGG		hypothetical protein LOC390637							94.0	91.0	92.0					15																	90784558		2199	4298	6497	SO:0001819	synonymous_variant	390637				glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity	g.chr15:90784558C>A		CCDS32327.1	15q26.1	2012-05-04	2012-05-04	2012-05-04	ENSG00000183208	ENSG00000183208	2.7.7.78		34360	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 58"""	C15orf58		21507950	Standard	NM_001013657		Approved		uc002bpc.3	Q6ZNW5		ENST00000558017.1:c.418C>A	15.37:g.90784558C>A							p.R140R	NM_001013657	NP_001013679	Q6ZNW5	VTC2_HUMAN			4	597	+			140						Silent	SNP	ENST00000558017.1	37	c.418C>A	CCDS32327.1																																																																																				0.602	GDPGP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416973.1	NM_001013657		13	147	1	0	3.27e-08	3.5e-08	13	147				
IFT140	9742	broad.mit.edu	37	16	1652541	1652541	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:1652541G>A	ENST00000426508.2	-	4	562	c.199C>T	c.(199-201)Ctg>Ttg	p.L67L	IFT140_ENST00000439987.2_5'UTR|LA16c-395F10.2_ENST00000563162.1_RNA	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	67					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TGCCAGCACAGGGAAGCAACC	0.602																																						uc002cmb.2		NA																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(199-201)CTG>TTG		intraflagellar transport 140							94.0	78.0	83.0					16																	1652541		2199	4300	6499	SO:0001819	synonymous_variant	9742							g.chr16:1652541G>A	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.199C>T	16.37:g.1652541G>A							p.L67L	NM_014714	NP_055529	Q96RY7	IF140_HUMAN			4	561	-		Hepatocellular(780;0.219)	67			WD 2.		A2A2A8|D3DU75|O60332|Q9UG52	Silent	SNP	ENST00000426508.2	37	c.199C>T	CCDS10439.1																																																																																				0.602	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		7	80	0	0	0	0	7	80				
TRAF7	84231	broad.mit.edu	37	16	2226122	2226122	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:2226122G>T	ENST00000326181.6	+	19	1951	c.1819G>T	c.(1819-1821)Gtc>Ttc	p.V607F		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	607					activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of MAPK cascade (GO:0043410)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic vesicle (GO:0031410)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						TGCCCTGGCGGTCATCTCGAC	0.657																																						uc002cow.2		NA																	0				ovary(1)|lung(1)|breast(1)	3						c.(1819-1821)GTC>TTC		TNF receptor-associated factor 7							47.0	48.0	48.0					16																	2226122		2195	4300	6495	SO:0001583	missense	84231				activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:2226122G>T	AL136921	CCDS10461.1	16p13.3	2013-01-10	2012-02-23	2004-06-04	ENSG00000131653	ENSG00000131653		"""RING-type (C3HC4) zinc fingers"", ""WD repeat domain containing"""	20456	protein-coding gene	gene with protein product		606692	"""ring finger and WD repeat domain 1"", ""TNF receptor-associated factor 7"""	RFWD1		11230166, 15001576	Standard	NM_032271		Approved	RNF119, DKFZp586I021, MGC7807	uc002cow.3	Q6Q0C0	OTTHUMG00000128826	ENST00000326181.6:c.1819G>T	16.37:g.2226122G>T	ENSP00000318944:p.Val607Phe						p.V607F	NM_032271	NP_115647	Q6Q0C0	TRAF7_HUMAN			19	1918	+			607			WD 6.		Q9H073	Missense_Mutation	SNP	ENST00000326181.6	37	c.1819G>T	CCDS10461.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688366	0.68271	.	.	ENSG00000131653	ENST00000326181	T	0.51817	0.69	5.38	5.38	0.77491	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.38374	0.1038	N	0.01009	-1.055	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.54098	-0.8344	10	0.13470	T	0.59	-50.9245	18.1108	0.89534	0.0:0.0:1.0:0.0	.	607	Q6Q0C0	TRAF7_HUMAN	F	607	ENSP00000318944:V607F	ENSP00000318944:V607F	V	+	1	0	TRAF7	2166123	1.000000	0.71417	0.976000	0.42696	0.581000	0.36288	8.992000	0.93519	2.529000	0.85273	0.462000	0.41574	GTC		0.657	TRAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250762.1	NM_032271		5	43	1	0	0.00116845	0.00119922	5	43				
E4F1	1877	broad.mit.edu	37	16	2283182	2283182	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:2283182G>T	ENST00000301727.4	+	7	1102	c.1054G>T	c.(1054-1056)Gag>Tag	p.E352*	E4F1_ENST00000565090.1_Nonsense_Mutation_p.E352*|DNASE1L2_ENST00000564065.1_5'Flank|RP11-304L19.12_ENST00000564055.1_lincRNA|E4F1_ENST00000564139.1_Nonsense_Mutation_p.E352*	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	352					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|mitotic cell cycle arrest (GO:0071850)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell cycle process (GO:0010564)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle, embryonic (GO:0009794)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			ovary(1)	1						CCTGGCCCCAGAGGTGGGGGC	0.652																																						uc002cpm.2		NA																	0				ovary(1)	1						c.(1054-1056)GAG>TAG		p120E4F							47.0	53.0	51.0					16																	2283182		2195	4289	6484	SO:0001587	stop_gained	1877				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr16:2283182G>T	U87269	CCDS32370.1, CCDS73809.1, CCDS73810.1	16p13.3	2013-01-08				ENSG00000167967		"""Zinc fingers, C2H2-type"""	3121	protein-coding gene	gene with protein product		603022				9763670, 8828041	Standard	XM_005255155		Approved	E4F	uc002cpm.3	Q66K89		ENST00000301727.4:c.1054G>T	16.37:g.2283182G>T	ENSP00000301727:p.Glu352*					E4F1_uc010bsi.2_Nonsense_Mutation_p.E352*|E4F1_uc010bsj.2_Nonsense_Mutation_p.E352*	p.E352*	NM_004424	NP_004415	Q66K89	E4F1_HUMAN			7	1102	+			352					A8K2R4|O00146	Nonsense_Mutation	SNP	ENST00000301727.4	37	c.1054G>T	CCDS32370.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.514253	0.85389	.	.	ENSG00000167967	ENST00000301727	.	.	.	5.31	5.31	0.75309	.	0.230342	0.46145	D	0.000305	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-33.101	17.7042	0.88304	0.0:0.0:1.0:0.0	.	.	.	.	X	352	.	ENSP00000301727:E352X	E	+	1	0	E4F1	2223183	1.000000	0.71417	0.960000	0.40013	0.262000	0.26303	6.372000	0.73123	2.768000	0.95171	0.561000	0.74099	GAG		0.652	E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435225.1	NM_004424		11	133	1	0	0.000673444	0.00069413	11	133				
C16orf59	80178	broad.mit.edu	37	16	2514053	2514053	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:2514053G>T	ENST00000361837.4	+	9	1043	c.978G>T	c.(976-978)caG>caT	p.Q326H	C16orf59_ENST00000563531.1_Missense_Mutation_p.Q326H|RP11-715J22.2_ENST00000563775.1_RNA|C16orf59_ENST00000569496.1_Missense_Mutation_p.Q326H|C16orf59_ENST00000483320.1_Missense_Mutation_p.Q159H	NM_025108.2	NP_079384.2	Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	326										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				TGGCGGAACAGCCACCAAGAC	0.667																																						uc002cqh.2		NA																	0					0						c.(976-978)CAG>CAT		hypothetical protein LOC80178							20.0	25.0	24.0					16																	2514053		1972	4155	6127	SO:0001583	missense	80178							g.chr16:2514053G>T	AK023971	CCDS10468.2	16p13.3	2008-10-30			ENSG00000162062	ENSG00000162062			25849	protein-coding gene	gene with protein product						12477932	Standard	XM_006720955		Approved	FLJ13909	uc002cqh.3	Q7L2K0	OTTHUMG00000128859	ENST00000361837.4:c.978G>T	16.37:g.2514053G>T	ENSP00000355022:p.Gln326His					C16orf59_uc002cqf.1_Missense_Mutation_p.Q326H|C16orf59_uc002cqg.1_Missense_Mutation_p.Q159H|C16orf59_uc002cqi.2_Missense_Mutation_p.Q159H|C16orf59_uc010uwb.1_Intron	p.Q326H	NM_025108	NP_079384	Q7L2K0	CP059_HUMAN			9	1009	+		Ovarian(90;0.17)	326					B4DXD7|Q96H61|Q9H872	Missense_Mutation	SNP	ENST00000361837.4	37	c.978G>T	CCDS10468.2	.	.	.	.	.	.	.	.	.	.	G	9.190	1.025826	0.19512	.	.	ENSG00000162062	ENST00000361837	T	0.52295	0.67	4.14	-1.79	0.07932	.	1.037100	0.07634	N	0.929112	T	0.29817	0.0745	L	0.38531	1.155	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.12156	0.007;0.003;0.004	T	0.21552	-1.0242	10	0.22706	T	0.39	-0.8582	1.0983	0.01678	0.2798:0.1515:0.4134:0.1553	.	326;159;159	Q7L2K0;D3DU95;Q7L2K0-2	CP059_HUMAN;.;.	H	326	ENSP00000355022:Q326H	ENSP00000355022:Q326H	Q	+	3	2	C16orf59	2454054	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.194000	0.09559	-0.370000	0.08016	0.561000	0.74099	CAG		0.667	C16orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250802.3	NM_025108		7	34	1	0	8.13e-05	8.44e-05	7	34				
ZG16B	124220	broad.mit.edu	37	16	2880712	2880712	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:2880712G>T	ENST00000382280.3	+	3	257	c.178G>T	c.(178-180)Gga>Tga	p.G60*	ZG16B_ENST00000572863.1_Nonsense_Mutation_p.G30*	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B	60					retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						TGGCCCTGGAGGAGGCAAGTA	0.532																																						uc002cru.2		NA																	0				ovary(1)	1						c.(178-180)GGA>TGA		zymogen granule protein 16 homolog B precursor							192.0	196.0	195.0					16																	2880712		1935	4137	6072	SO:0001587	stop_gained	124220					extracellular region	sugar binding	g.chr16:2880712G>T	BC009722	CCDS10479.2	16p13.3	2014-02-12	2012-12-07		ENSG00000162078	ENSG00000162078			30456	protein-coding gene	gene with protein product	"""jacalin-like lectin domain containing 2"""		"""zymogen granule protein 16 homolog B (rat)"""			12477932	Standard	NM_145252		Approved	HRPE773, PRO1567, JCLN2	uc002cru.3	Q96DA0	OTTHUMG00000128933	ENST00000382280.3:c.178G>T	16.37:g.2880712G>T	ENSP00000371715:p.Gly60*						p.G60*	NM_145252	NP_660295	Q96DA0	ZG16B_HUMAN			3	254	+			60					A6NIY1|B2R4F6|Q6UW28	Nonsense_Mutation	SNP	ENST00000382280.3	37	c.178G>T	CCDS10479.2	.	.	.	.	.	.	.	.	.	.	g	15.28	2.788029	0.49997	.	.	ENSG00000162078	ENST00000382280	.	.	.	3.26	2.29	0.28610	.	1.585430	0.04382	N	0.360955	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	0.2794	8.5356	0.33362	0.0:0.2375:0.7625:0.0	.	.	.	.	X	60	.	ENSP00000371715:G60X	G	+	1	0	ZG16B	2820713	0.000000	0.05858	0.012000	0.15200	0.014000	0.08584	-0.435000	0.06931	0.935000	0.37341	0.556000	0.70494	GGA		0.532	ZG16B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250912.1	NM_145252		22	294	1	0	5.62e-17	6.2e-17	22	294				
PPL	5493	broad.mit.edu	37	16	4945273	4945273	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:4945273C>G	ENST00000345988.2	-	11	1320	c.1231G>C	c.(1231-1233)Gag>Cag	p.E411Q	PPL_ENST00000590782.2_Missense_Mutation_p.E409Q	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	411					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TGCTCCCCCTCAAAGTCACAG	0.627																																						uc002cyd.1		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1231-1233)GAG>CAG		periplakin							47.0	42.0	44.0					16																	4945273		2197	4300	6497	SO:0001583	missense	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4945273C>G	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.1231G>C	16.37:g.4945273C>G	ENSP00000340510:p.Glu411Gln						p.E411Q	NM_002705	NP_002696	O60437	PEPL_HUMAN			11	1321	-			411			Spectrin 2.		O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	c.1231G>C	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698196	0.68386	.	.	ENSG00000118898	ENST00000345988	T	0.69685	-0.42	4.57	4.57	0.56435	.	0.059591	0.64402	D	0.000003	T	0.69495	0.3117	L	0.51422	1.61	0.32441	N	0.546738	D	0.63046	0.992	P	0.55545	0.778	T	0.75855	-0.3170	10	0.51188	T	0.08	.	10.031	0.42101	0.1526:0.6997:0.1477:0.0	.	411	O60437	PEPL_HUMAN	Q	411	ENSP00000340510:E411Q	ENSP00000340510:E411Q	E	-	1	0	PPL	4885274	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	5.601000	0.67606	2.373000	0.80994	0.561000	0.74099	GAG		0.627	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		5	67	0	0	0	0	5	67				
PPL	5493	broad.mit.edu	37	16	4945622	4945622	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:4945622C>A	ENST00000345988.2	-	10	1157	c.1068G>T	c.(1066-1068)caG>caT	p.Q356H	PPL_ENST00000590782.2_Missense_Mutation_p.Q354H	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	356					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GCAGCTCAATCTGGTACCGGT	0.642																																						uc002cyd.1		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1066-1068)CAG>CAT		periplakin							100.0	79.0	86.0					16																	4945622		2197	4300	6497	SO:0001583	missense	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4945622C>A	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.1068G>T	16.37:g.4945622C>A	ENSP00000340510:p.Gln356His						p.Q356H	NM_002705	NP_002696	O60437	PEPL_HUMAN			10	1158	-			356			Potential.|Spectrin 2.		O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	c.1068G>T	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.415684	0.42817	.	.	ENSG00000118898	ENST00000345988	D	0.92805	-3.11	4.37	2.37	0.29283	.	0.000000	0.85682	D	0.000000	D	0.83557	0.5280	N	0.21545	0.675	0.34697	D	0.726312	B	0.14012	0.009	B	0.12837	0.008	T	0.81145	-0.1066	10	0.44086	T	0.13	.	7.4302	0.27124	0.1493:0.7099:0.0:0.1408	.	356	O60437	PEPL_HUMAN	H	356	ENSP00000340510:Q356H	ENSP00000340510:Q356H	Q	-	3	2	PPL	4885623	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.392000	0.44433	1.161000	0.42604	0.455000	0.32223	CAG		0.642	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		18	118	1	0	5.35e-07	5.68e-07	18	118				
ABCC1	4363	broad.mit.edu	37	16	16103674	16103674	+	Silent	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:16103674C>G	ENST00000399410.3	+	3	442	c.267C>G	c.(265-267)ctC>ctG	p.L89L	ABCC1_ENST00000351154.5_Silent_p.L89L|ABCC1_ENST00000346370.5_Silent_p.L89L|ABCC1_ENST00000399408.2_Silent_p.L89L|ABCC1_ENST00000349029.5_Silent_p.L89L|ABCC1_ENST00000345148.5_Silent_p.L89L	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	89					arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.L89L(1)		breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	GGGCAGACCTCTTCTACTCTT	0.552																																						uc010bvi.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(265-267)CTC>CTG		ATP-binding cassette, sub-family C, member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						152.0	154.0	154.0					16																	16103674		1916	4111	6027	SO:0001819	synonymous_variant	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16103674C>G	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.267C>G	16.37:g.16103674C>G						ABCC1_uc010bvj.2_Silent_p.L89L|ABCC1_uc010bvk.2_Silent_p.L89L|ABCC1_uc010bvl.2_Silent_p.L89L|ABCC1_uc010bvm.2_Silent_p.L89L|ABCC1_uc002del.3_5'UTR	p.L89L	NM_004996	NP_004987	P33527	MRP1_HUMAN			3	442	+			89			Helical; Name=2.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Silent	SNP	ENST00000399410.3	37	c.267C>G	CCDS42122.1																																																																																				0.552	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		26	312	0	0	0	0	26	312				
GTF3C1	2975	broad.mit.edu	37	16	27539953	27539953	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:27539953G>A	ENST00000356183.4	-	6	954	c.939C>T	c.(937-939)atC>atT	p.I313I	GTF3C1_ENST00000561623.1_Silent_p.I313I	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	313					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						ATTCAGGGTGGATCTCTTGCA	0.507																																						uc002dov.1		NA																	0				ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(937-939)ATC>ATT		general transcription factor IIIC, polypeptide							133.0	129.0	130.0					16																	27539953		2197	4300	6497	SO:0001819	synonymous_variant	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27539953G>A	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.939C>T	16.37:g.27539953G>A						GTF3C1_uc002dou.2_Silent_p.I313I	p.I313I	NM_001520	NP_001511	Q12789	TF3C1_HUMAN			6	979	-			313					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Silent	SNP	ENST00000356183.4	37	c.939C>T	CCDS32414.1																																																																																				0.507	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		17	206	0	0	0	0	17	206				
SETD1A	9739	broad.mit.edu	37	16	30974857	30974857	+	Silent	SNP	G	G	A	rs141357385	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:30974857G>A	ENST00000262519.8	+	5	1307	c.621G>A	c.(619-621)tcG>tcA	p.S207S		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	207					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						TCCAAGGCTCGGGTGCAGCCA	0.572													G|||	3	0.000599042	0.0015	0.0014	5008	,	,		16669	0.0		0.0	False		,,,				2504	0.0					uc002ead.1		NA																	0				ovary(2)|skin(1)	3						c.(619-621)TCG>TCA		SET domain containing 1A		G		12,4382	19.1+/-41.9	0,12,2185	69.0	72.0	71.0		621	-0.8	1.0	16	dbSNP_134	71	0,8600		0,0,4300	no	coding-synonymous	SETD1A	NM_014712.1		0,12,6485	AA,AG,GG		0.0,0.2731,0.0924		207/1708	30974857	12,12982	2197	4300	6497	SO:0001819	synonymous_variant	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30974857G>A	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.621G>A	16.37:g.30974857G>A						SETD1A_uc002eae.1_Silent_p.S207S	p.S207S	NM_014712	NP_055527	O15047	SET1A_HUMAN			5	1307	+			207					A6NP62|Q6PIF3|Q8TAJ6	Silent	SNP	ENST00000262519.8	37	c.621G>A	CCDS32435.1																																																																																				0.572	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		13	81	0	0	0	0	13	81				
VPS35	55737	broad.mit.edu	37	16	46712964	46712964	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:46712964C>T	ENST00000299138.7	-	6	669	c.611G>A	c.(610-612)cGa>cAa	p.R204Q	VPS35_ENST00000568642.1_5'Flank	NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	204					cell death (GO:0008219)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|retromer complex (GO:0030904)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TTCTCTATCTCGGCTATGTCC	0.433																																						uc002eef.3		NA																	0					0						c.(610-612)CGA>CAA		vacuolar protein sorting 35							160.0	151.0	154.0					16																	46712964		2203	4300	6503	SO:0001583	missense	55737				protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding	g.chr16:46712964C>T	AF175265	CCDS10721.1	16q12	2012-06-27	2006-12-19		ENSG00000069329	ENSG00000069329		"""Parkinson disease"""	13487	protein-coding gene	gene with protein product		601501	"""vacuolar protein sorting 35 (yeast homolog)"", ""vacuolar protein sorting 35 (yeast)"""			11112353, 21763482	Standard	NM_018206		Approved	FLJ10752, MEM3, PARK17	uc002eef.4	Q96QK1	OTTHUMG00000132542	ENST00000299138.7:c.611G>A	16.37:g.46712964C>T	ENSP00000299138:p.Arg204Gln					VPS35_uc002eed.2_Missense_Mutation_p.R25Q|VPS35_uc002eee.2_Missense_Mutation_p.R165Q	p.R204Q	NM_018206	NP_060676	Q96QK1	VPS35_HUMAN			6	710	-		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	204					Q561W2|Q9H016|Q9H096|Q9H4P3|Q9H8J0|Q9NRS7|Q9NVG2|Q9NX80|Q9NZK2	Missense_Mutation	SNP	ENST00000299138.7	37	c.611G>A	CCDS10721.1	.	.	.	.	.	.	.	.	.	.	.	36	5.743419	0.96873	.	.	ENSG00000069329	ENST00000299138;ENST00000541330	T	0.50001	0.76	5.13	5.13	0.70059	.	0.065510	0.64402	D	0.000011	T	0.70325	0.3211	M	0.92738	3.34	0.80722	D	1	D;P	0.58268	0.982;0.937	P;P	0.52514	0.497;0.701	T	0.79155	-0.1920	10	0.59425	D	0.04	-3.1342	18.9413	0.92607	0.0:1.0:0.0:0.0	.	204;69	Q96QK1;F5GYF5	VPS35_HUMAN;.	Q	204;69	ENSP00000299138:R204Q	ENSP00000299138:R204Q	R	-	2	0	VPS35	45270465	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.776000	0.85560	2.541000	0.85698	0.460000	0.39030	CGA		0.433	VPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255742.3			14	121	0	0	0	0	14	121				
ZNF423	23090	broad.mit.edu	37	16	49672194	49672194	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:49672194G>A	ENST00000561648.1	-	4	922	c.869C>T	c.(868-870)tCc>tTc	p.S290F	ZNF423_ENST00000563137.2_Missense_Mutation_p.S230F|ZNF423_ENST00000262383.2_Missense_Mutation_p.S290F|ZNF423_ENST00000535559.1_Missense_Mutation_p.S173F|ZNF423_ENST00000567169.1_Missense_Mutation_p.S173F|ZNF423_ENST00000562871.1_Missense_Mutation_p.S230F|ZNF423_ENST00000562520.1_Missense_Mutation_p.S230F	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	290					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CGCCTTCTCGGACAGCTGCGG	0.602																																						uc002efs.2		NA																	0				ovary(1)|lung(1)|kidney(1)|pancreas(1)	4						c.(868-870)TCC>TTC		zinc finger protein 423							75.0	54.0	61.0					16																	49672194		2198	4300	6498	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49672194G>A	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.869C>T	16.37:g.49672194G>A	ENSP00000455426:p.Ser290Phe					ZNF423_uc010vgn.1_Missense_Mutation_p.S173F	p.S290F	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN			5	1167	-		all_cancers(37;0.0155)	290					O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.869C>T	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.729821	0.69074	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.11385	2.78;2.78	5.0	5.0	0.66597	Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.38241	0.1033	M	0.83483	2.645	0.54753	D	0.999983	D	0.89917	1.0	D	0.87578	0.998	T	0.29671	-1.0004	9	.	.	.	.	18.3069	0.90185	0.0:0.0:1.0:0.0	.	290	Q2M1K9	ZN423_HUMAN	F	290;173	ENSP00000262383:S290F;ENSP00000442321:S173F	.	S	-	2	0	ZNF423	48229695	1.000000	0.71417	0.992000	0.48379	0.974000	0.67602	9.869000	0.99810	2.331000	0.79229	0.561000	0.74099	TCC		0.602	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		5	73	0	0	0	0	5	73				
PAPD5	64282	broad.mit.edu	37	16	50261849	50261849	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:50261849C>G	ENST00000561678.1	+	10	1599	c.1525C>G	c.(1525-1527)Cag>Gag	p.Q509E	PAPD5_ENST00000357464.3_Missense_Mutation_p.Q540E|PAPD5_ENST00000436909.3_Missense_Mutation_p.Q619E|PAPD5_ENST00000573002.1_3'UTR			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5	493	Ser-rich.				histone mRNA catabolic process (GO:0071044)|mitotic nuclear division (GO:0007067)|mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)	p.Q619*(1)		endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		GGAGTCCTCTCAGGCAGTTGG	0.488																																						uc010vgo.1		NA																	1	Substitution - Nonsense(1)		kidney(1)		0						c.(1855-1857)CAG>GAG		PAP associated domain containing 5 isoform a							97.0	94.0	95.0					16																	50261849		1938	4148	6086	SO:0001583	missense	64282				cell division|DNA replication|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr16:50261849C>G	AF089897	CCDS54006.1	16q12.1	2010-11-18				ENSG00000121274			30758	protein-coding gene	gene with protein product	"""TUTase3"""	605540				10066793	Standard	NM_001040284		Approved	TRF4-2	uc010vgo.2	Q8NDF8		ENST00000561678.1:c.1525C>G	16.37:g.50261849C>G	ENSP00000455837:p.Gln509Glu					PAPD5_uc010cbi.2_RNA|PAPD5_uc002efz.2_Missense_Mutation_p.Q363E|PAPD5_uc002ega.2_Missense_Mutation_p.Q410E	p.Q619E	NM_001040284	NP_001035374	Q8NDF8	PAPD5_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)	12	1890	+		all_cancers(37;0.0452)	493			Ser-rich.		B4DV38|Q9NW67|Q9Y6C0	Missense_Mutation	SNP	ENST00000561678.1	37	c.1855C>G		.	.	.	.	.	.	.	.	.	.	C	21.2	4.113436	0.77210	.	.	ENSG00000121274	ENST00000436909;ENST00000357464	T;T	0.47869	0.83;0.86	6.17	6.17	0.99709	.	0.544685	0.21364	N	0.075753	T	0.40067	0.1102	N	0.22421	0.69	0.47153	D	0.999339	B;B	0.25007	0.084;0.116	B;B	0.24155	0.051;0.031	T	0.10683	-1.0619	10	0.33940	T	0.23	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	619;493	B4DV38;Q8NDF8	.;PAPD5_HUMAN	E	619;540	ENSP00000396995:Q619E;ENSP00000350054:Q540E	ENSP00000350054:Q540E	Q	+	1	0	PAPD5	48819350	1.000000	0.71417	0.936000	0.37596	0.990000	0.78478	5.359000	0.66074	2.941000	0.99782	0.655000	0.94253	CAG		0.488	PAPD5-002	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000423150.1	NM_022447		6	72	0	0	0	0	6	72				
GPR114	221188	broad.mit.edu	37	16	57597804	57597804	+	Silent	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:57597804C>A	ENST00000340339.4	+	5	865	c.342C>A	c.(340-342)ccC>ccA	p.P114P	GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Silent_p.P114P	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	114					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P114P(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						TGCAGTTCCCCGCCGAGCTGA	0.622																																						uc002elx.3		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(340-342)CCC>CCA		G protein-coupled receptor 114 precursor							42.0	46.0	44.0					16																	57597804		2198	4300	6498	SO:0001819	synonymous_variant	221188				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr16:57597804C>A	AY140956	CCDS10785.1	16q13	2014-08-08			ENSG00000159618	ENSG00000159618		"""-"", ""GPCR / Class B : Orphans"""	19010	protein-coding gene	gene with protein product						12435584	Standard	NM_153837		Approved	PGR27	uc002ely.3	Q8IZF4	OTTHUMG00000133461	ENST00000340339.4:c.342C>A	16.37:g.57597804C>A						GPR114_uc010vhr.1_Silent_p.P114P|GPR114_uc002ely.2_Silent_p.P114P	p.P114P	NM_153837	NP_722579	Q8IZF4	GP114_HUMAN			5	427	+			114			Extracellular (Potential).		B3KXZ5|Q6ZMH7|Q6ZML4|Q86SL8|Q8IZ14	Silent	SNP	ENST00000340339.4	37	c.342C>A	CCDS10785.1																																																																																				0.622	GPR114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257336.3	NM_153837		14	88	1	0	4.75e-09	5.13e-09	14	88				
CDH8	1006	broad.mit.edu	37	16	62055216	62055216	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:62055216G>T	ENST00000577390.1	-	2	1046	c.92C>A	c.(91-93)cCg>cAg	p.P31Q	CDH8_ENST00000299345.6_Missense_Mutation_p.P31Q|CDH8_ENST00000577730.1_Missense_Mutation_p.P31Q|CDH8_ENST00000584337.1_Missense_Mutation_p.P31Q	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	31					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CTGATTCATCGGAGCCATGTA	0.458																																						uc002eog.1		NA																	0				ovary(6)|skin(2)|breast(1)	9						c.(91-93)CCG>CAG		cadherin 8, type 2 preproprotein							78.0	79.0	78.0					16																	62055216		2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:62055216G>T	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.92C>A	16.37:g.62055216G>T	ENSP00000462701:p.Pro31Gln						p.P31Q	NM_001796	NP_001787	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	2	344	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	31					B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.92C>A	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.025965	0.54683	.	.	ENSG00000150394	ENST00000299345	T	0.54675	0.56	6.17	6.17	0.99709	.	0.262657	0.37955	N	0.001874	T	0.57080	0.2029	L	0.59436	1.845	0.58432	D	0.999993	P	0.44090	0.826	B	0.43754	0.43	T	0.49818	-0.8899	10	0.28530	T	0.3	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	31	P55286	CADH8_HUMAN	Q	31	ENSP00000299345:P31Q	ENSP00000299345:P31Q	P	-	2	0	CDH8	60612717	1.000000	0.71417	0.976000	0.42696	0.729000	0.41735	9.148000	0.94652	2.941000	0.99782	0.655000	0.94253	CCG		0.458	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		8	103	1	0	5.49e-09	5.91e-09	8	103				
CMTM2	146225	broad.mit.edu	37	16	66613547	66613547	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:66613547C>T	ENST00000268595.2	+	1	188	c.37C>T	c.(37-39)Cca>Tca	p.P13S	RP11-403P17.2_ENST00000568430.1_RNA|CMTM2_ENST00000379486.2_Missense_Mutation_p.P13S	NM_144673.2	NP_653274.1	Q8TAZ6	CKLF2_HUMAN	CKLF-like MARVEL transmembrane domain containing 2	13					chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)		CAAGCCAGAGCCAGCACCAGC	0.587																																						uc002ept.2		NA																	0				ovary(1)	1						c.(37-39)CCA>TCA		chemokine-like factor superfamily 2							69.0	68.0	68.0					16																	66613547		2201	4300	6501	SO:0001583	missense	146225				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr16:66613547C>T	BC025354	CCDS10814.1, CCDS56001.1	16q22.1-q22.3	2008-02-05	2005-11-08	2005-11-08	ENSG00000140932	ENSG00000140932			19173	protein-coding gene	gene with protein product		607885	"""chemokine-like factor super family 2"", ""chemokine-like factor superfamily 2"""	CKLFSF2			Standard	NM_001199317		Approved	MGC39436, FLJ25732	uc002ept.3	Q8TAZ6	OTTHUMG00000137501	ENST00000268595.2:c.37C>T	16.37:g.66613547C>T	ENSP00000268595:p.Pro13Ser					CMTM2_uc010cdu.2_Missense_Mutation_p.P13S	p.P13S	NM_144673	NP_653274	Q8TAZ6	CKLF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)	1	197	+		Ovarian(137;0.0563)	13					Q5I2A4|Q8N7E5	Missense_Mutation	SNP	ENST00000268595.2	37	c.37C>T	CCDS10814.1	.	.	.	.	.	.	.	.	.	.	C	6.972	0.549268	0.13374	.	.	ENSG00000140932	ENST00000379486;ENST00000268595	T;T	0.49139	0.79;1.4	0.364	0.364	0.16124	.	1.510550	0.04035	N	0.302219	T	0.59197	0.2176	L	0.46157	1.445	0.09310	N	1	D;D	0.60575	0.988;0.988	D;D	0.65140	0.932;0.932	T	0.47368	-0.9123	9	0.87932	D	0	-19.9569	.	.	.	.	13;13	Q5I2A4;Q8TAZ6	.;CKLF2_HUMAN	S	13	ENSP00000368800:P13S;ENSP00000268595:P13S	ENSP00000268595:P13S	P	+	1	0	CMTM2	65171048	0.000000	0.05858	0.004000	0.12327	0.007000	0.05969	-0.612000	0.05616	0.406000	0.25560	0.407000	0.27541	CCA		0.587	CMTM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268808.1			10	99	0	0	0	0	10	99				
DDX19B	11269	broad.mit.edu	37	16	70367483	70367483	+	Nonstop_Mutation	SNP	T	T	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:70367483T>G	ENST00000288071.6	+	12	1683	c.1438T>G	c.(1438-1440)Tga>Gga	p.*480G	RP11-529K1.3_ENST00000567706.1_Intron|RP11-529K1.2_ENST00000562077.1_RNA|DDX19B_ENST00000393657.2_Nonstop_Mutation_p.*371G|DDX19B_ENST00000355992.3_Nonstop_Mutation_p.*449G|DDX19B_ENST00000568625.1_Nonstop_Mutation_p.*371G|DDX19B_ENST00000563392.1_Nonstop_Mutation_p.*371G|DDX19B_ENST00000563206.1_Nonstop_Mutation_p.*485G|DDX19B_ENST00000451014.3_Nonstop_Mutation_p.*454G	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B	0					mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				AATAGCCAACTGAGAAGCTCC	0.537																																					Esophageal Squamous(26;382 757 1343 9728 15939)	uc002eyo.2		NA																	0				kidney(1)	1						c.(1438-1440)TGA>GGA		DEAD (Asp-Glu-Ala-As) box polypeptide 19 isoform							90.0	91.0	91.0					16																	70367483		2198	4297	6495	SO:0001578	stop_lost	11269				mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr16:70367483T>G	AJ237946	CCDS10888.1, CCDS32475.1, CCDS42187.1, CCDS58478.1	16q22.3	2012-02-23	2012-02-23	2005-07-13	ENSG00000157349	ENSG00000157349		"""DEAD-boxes"""	2742	protein-coding gene	gene with protein product		605812	"""DEAD (Asp-Glu-Ala-As) box polypeptide 19"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 19 (Dbp5, yeast, homolog)"""	DDX19		10428971	Standard	NM_007242		Approved	DBP5	uc002eyo.4	Q9UMR2	OTTHUMG00000137577	ENST00000288071.6:c.1438T>G	16.37:g.70367483T>G	ENSP00000288071:p.*480Glyext*36					DDX19B_uc010vly.1_Intron|DDX19A_uc002eys.2_Intron|DDX19B_uc010vlv.1_Nonstop_Mutation_p.*454G|DDX19B_uc010vlw.1_Nonstop_Mutation_p.*371G|DDX19B_uc002eyp.2_Nonstop_Mutation_p.*449G|DDX19B_uc002eyq.2_Nonstop_Mutation_p.*371G|DDX19B_uc002eyr.2_Nonstop_Mutation_p.*329G|DDX19B_uc010vlx.1_Nonstop_Mutation_p.*329G|uc002eyt.2_Intron	p.*480G	NM_007242	NP_009173	Q9UMR2	DD19B_HUMAN			12	1567	+		Ovarian(137;0.0694)	480					B3KNE9|B4DXS6|E7EMK4|Q6FIB7|Q6IAE0|Q96KE7|Q9H0U0	Nonstop_Mutation	SNP	ENST00000288071.6	37	c.1438T>G	CCDS10888.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.996142	0.74703	.	.	ENSG00000157349	ENST00000451014;ENST00000355992;ENST00000393657;ENST00000288071	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.074	0.59077	0.0:0.0:0.0:1.0	.	.	.	.	G	454;449;371;480	.	.	X	+	1	0	DDX19B	68924984	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.184000	0.77705	2.198000	0.70561	0.533000	0.62120	TGA		0.537	DDX19B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268965.3	NM_007242		9	92	0	0	0	0	9	92				
WDR59	79726	broad.mit.edu	37	16	74951881	74951881	+	Silent	SNP	C	C	T	rs534012628		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:74951881C>T	ENST00000262144.6	-	11	1042	c.912G>A	c.(910-912)acG>acA	p.T304T		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	304										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CCCGGGACCACGTCACCAGTT	0.463													C|||	1	0.000199681	0.0	0.0	5008	,	,		16622	0.001		0.0	False		,,,				2504	0.0					uc002fdh.1		NA																	0				ovary(1)|breast(1)	2						c.(910-912)ACG>ACA		WD repeat domain 59							136.0	123.0	127.0					16																	74951881		2198	4300	6498	SO:0001819	synonymous_variant	79726							g.chr16:74951881C>T	AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"""WD repeat domain containing"""	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.912G>A	16.37:g.74951881C>T						WDR59_uc002fdi.2_Silent_p.T304T|WDR59_uc002fdj.2_Silent_p.T304T|WDR59_uc002fdg.1_5'Flank	p.T304T	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN			11	1014	-			304			WD 6.		B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Silent	SNP	ENST00000262144.6	37	c.912G>A	CCDS32488.1																																																																																				0.463	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581		12	166	0	0	0	0	12	166				
CHST6	4166	broad.mit.edu	37	16	75513534	75513534	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:75513534C>G	ENST00000332272.4	-	3	372	c.193G>C	c.(193-195)Gac>Cac	p.D65H	CHST6_ENST00000390664.2_Missense_Mutation_p.D65H|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	65					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TAGAAGACGTCGGGGTGCTGG	0.687																																						uc002fef.2		NA																	0					0						c.(193-195)GAC>CAC		carbohydrate (N-acetylglucosamine 6-O)							40.0	33.0	36.0					16																	75513534		2198	4300	6498	SO:0001583	missense	4166				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75513534C>G	AF280086	CCDS10918.1	16q22	2008-02-05			ENSG00000183196	ENSG00000183196		"""Sulfotransferases, membrane-bound"""	6938	protein-coding gene	gene with protein product		605294		MCDC1		8644739, 11017086	Standard	NM_021615		Approved		uc002fef.3	Q9GZX3	OTTHUMG00000137612	ENST00000332272.4:c.193G>C	16.37:g.75513534C>G	ENSP00000328983:p.Asp65His					CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Missense_Mutation_p.D65H	p.D65H	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN			3	373	-			65			Lumenal (Potential).		D3DUK3	Missense_Mutation	SNP	ENST00000332272.4	37	c.193G>C	CCDS10918.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.997538	0.35226	.	.	ENSG00000183196	ENST00000332272;ENST00000390664	D;D	0.99784	-6.74;-6.74	4.56	2.59	0.31030	Sulfotransferase domain (1);	0.259988	0.35013	N	0.003513	D	0.99635	0.9866	M	0.82323	2.585	0.09310	N	0.999993	D	0.76494	0.999	D	0.72982	0.979	D	0.99865	1.1088	10	0.66056	D	0.02	.	8.7442	0.34575	0.0:0.8103:0.0:0.1897	.	65	Q9GZX3	CHST6_HUMAN	H	65	ENSP00000328983:D65H;ENSP00000375079:D65H	ENSP00000328983:D65H	D	-	1	0	CHST6	74071035	0.374000	0.25081	0.011000	0.14972	0.451000	0.32288	1.699000	0.37804	0.369000	0.24510	0.591000	0.81541	GAC		0.687	CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435478.1	NM_021615		5	40	0	0	0	0	5	40				
PKD1L2	114780	broad.mit.edu	37	16	81253937	81253937	+	RNA	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:81253937C>A	ENST00000525539.1	-	0	38				PKD1L2_ENST00000337114.4_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CCCTAAGCCTCAGAGCAAGCA	0.557																																						uc002fgh.1		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(37-39)CTG>CTT		polycystin 1-like 2 isoform a							63.0	63.0	63.0					16																	81253937		2032	4190	6222			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81253937C>A	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81253937C>A						PKD1L2_uc002fgj.2_Silent_p.L13L	p.L13L	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			1	39	-			13					Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Silent	SNP	ENST00000525539.1	37	c.39G>T																																																																																					0.557	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			9	79	1	0	0.000442599	0.000458149	9	79				
OSGIN1	29948	broad.mit.edu	37	16	83999318	83999318	+	Silent	SNP	C	C	T	rs149907599	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:83999318C>T	ENST00000343939.2	+	7	1772	c.1389C>T	c.(1387-1389)ctC>ctT	p.L463L	OSGIN1_ENST00000361711.3_Silent_p.L380L|OSGIN1_ENST00000393306.1_Silent_p.L380L|NECAB2_ENST00000305202.4_5'Flank			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	463					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)		growth factor activity (GO:0008083)			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						TCCAGGACCTCGAGGGTGTCG	0.642													C|||	6	0.00119808	0.0045	0.0	5008	,	,		18204	0.0		0.0	False		,,,				2504	0.0					uc002fha.2		NA																	0					0						c.(1387-1389)CTC>CTT		oxidative stress induced growth inhibitor 1		C	,,	21,4379	28.1+/-56.4	0,21,2179	120.0	107.0	111.0		1389,1140,1140	-5.1	0.0	16	dbSNP_134	111	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	OSGIN1	NM_013370.3,NM_182980.2,NM_182981.2	,,	0,21,6479	TT,TC,CC		0.0,0.4773,0.1615	,,	463/561,380/478,380/478	83999318	21,12979	2200	4300	6500	SO:0001819	synonymous_variant	29948				cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity	g.chr16:83999318C>T	AY258066	CCDS10939.1	16q23.3	2010-11-23			ENSG00000140961	ENSG00000140961			30093	protein-coding gene	gene with protein product	"""bone marrow stromal cell-derived growth inhibitor"", ""pregnancy induced growth inhibitor"""	607975				11459809, 14570898	Standard	NM_182981		Approved	BDGI, OKL38	uc002fhc.3	Q9UJX0	OTTHUMG00000137640	ENST00000343939.2:c.1389C>T	16.37:g.83999318C>T						NECAB2_uc002fhd.2_5'Flank|OSGIN1_uc002fhb.2_Silent_p.L380L|OSGIN1_uc002fhc.2_Silent_p.L380L	p.L463L	NM_013370	NP_037502	Q9UJX0	OSGI1_HUMAN			7	1772	+			463					Q52M33|Q86UQ1|Q96S88|Q9BZ70	Silent	SNP	ENST00000343939.2	37	c.1389C>T																																																																																					0.642	OSGIN1-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000269081.1	NM_013370		7	104	0	0	0	0	7	104				
CTU2	348180	broad.mit.edu	37	16	88778042	88778042	+	Splice_Site	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:88778042G>T	ENST00000453996.2	+	5	350		c.e5-1		CTU2_ENST00000312060.5_Splice_Site|CTU2_ENST00000378384.3_Splice_Site|CTU2_ENST00000567949.1_Splice_Site	NM_001012759.1	NP_001012777.1			cytosolic thiouridylase subunit 2 homolog (S. pombe)											NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						TCTCCCTCTAGGGCCTGAGCC	0.527																																						uc002flm.2		NA																	0				skin(1)	1						c.e5-1		cytoplasmic tRNA 2-thiolation protein 2 isoform							113.0	92.0	99.0					16																	88778042		2198	4300	6498	SO:0001630	splice_region_variant	348180				tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding	g.chr16:88778042G>T	BC021056	CCDS32506.1, CCDS45545.1	16q24.3	2013-10-11	2009-08-19	2009-08-19		ENSG00000174177			28005	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 84"""	C16orf84		19017811	Standard	NM_001012759		Approved	NCS2	uc002flm.3	Q2VPK5		ENST00000453996.2:c.283-1G>T	16.37:g.88778042G>T						CTU2_uc002fln.2_Splice_Site_p.G95_splice|CTU2_uc010chz.2_Splice_Site_p.G95_splice|CTU2_uc010cia.2_Splice_Site_p.G8_splice	p.G95_splice	NM_001012759	NP_001012777	Q2VPK5	CTU2_HUMAN			5	331	+									Splice_Site	SNP	ENST00000453996.2	37	c.283_splice	CCDS45545.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.590156	0.46214	.	.	ENSG00000174177	ENST00000378384;ENST00000312060;ENST00000453996	.	.	.	4.55	4.55	0.56014	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4662	0.84079	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CTU2	87305543	1.000000	0.71417	0.997000	0.53966	0.482000	0.33219	5.095000	0.64529	2.234000	0.73211	0.563000	0.77884	.		0.527	CTU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423025.1	NM_001012762	Intron	9	97	1	0	4.69e-08	5e-08	9	97				
CDH15	1013	broad.mit.edu	37	16	89254679	89254679	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:89254679C>T	ENST00000289746.2	+	7	1029	c.964C>T	c.(964-966)Ctg>Ttg	p.L322L		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	322	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		CGAGGGTGTTCTGTCCATTGT	0.637																																						uc002fmt.2		NA																	0				skin(1)	1						c.(964-966)CTG>TTG		cadherin 15 preproprotein							52.0	43.0	46.0					16																	89254679		2197	4300	6497	SO:0001819	synonymous_variant	1013				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding	g.chr16:89254679C>T	D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"""Cadherins / Major cadherins"""	1754	protein-coding gene	gene with protein product		114019	"""cadherin 15, M-cadherin (myotubule)"""	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.964C>T	16.37:g.89254679C>T							p.L322L	NM_004933	NP_004924	P55291	CAD15_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0261)	7	1041	+			322			Cadherin 3.|Extracellular (Potential).			Silent	SNP	ENST00000289746.2	37	c.964C>T	CCDS10976.1																																																																																				0.637	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269920.1	NM_004933		5	43	0	0	0	0	5	43				
RAP1GAP2	23108	broad.mit.edu	37	17	2867170	2867170	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:2867170G>A	ENST00000254695.8	+	7	390	c.300G>A	c.(298-300)ccG>ccA	p.P100P	RAP1GAP2_ENST00000542807.1_Silent_p.P100P|RAP1GAP2_ENST00000366401.4_Silent_p.P85P|CTD-3060P21.1_ENST00000574885.1_RNA|RAP1GAP2_ENST00000540393.2_Silent_p.P81P	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	100					negative regulation of neuron projection development (GO:0010977)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|nuclear membrane (GO:0031965)	Rap GTPase activator activity (GO:0046582)	p.P100P(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						AGGGAGGCCCGTACCCTCAGG	0.672																																						uc010ckd.2		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(1)	1						c.(298-300)CCG>CCA		RAP1 GTPase activating protein 2 isoform 1							24.0	27.0	26.0					17																	2867170		1984	4151	6135	SO:0001819	synonymous_variant	23108				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity	g.chr17:2867170G>A	AB028962	CCDS45573.1, CCDS45574.1	17p13.3	2009-09-14	2009-09-14	2009-09-14		ENSG00000132359			29176	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 4"", ""GTPase activating Rap/RanGAP domain-like 4"""	GARNL4		15632203	Standard	NM_015085		Approved	KIAA1039	uc010ckd.3	Q684P5		ENST00000254695.8:c.300G>A	17.37:g.2867170G>A						RAP1GAP2_uc010cke.2_Silent_p.P85P	p.P100P	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN			7	390	+			100					B2RTY5|Q684P4|Q6AI00|Q6ZVF0|Q9UPW2	Silent	SNP	ENST00000254695.8	37	c.300G>A	CCDS45573.1																																																																																				0.672	RAP1GAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438208.2			3	21	0	0	0	0	3	21				
ACADVL	37	broad.mit.edu	37	17	7127027	7127027	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:7127027C>T	ENST00000356839.5	+	12	1426	c.1247C>T	c.(1246-1248)gCc>gTc	p.A416V	ACADVL_ENST00000350303.5_Missense_Mutation_p.A394V|MIR324_ENST00000362183.1_RNA|ACADVL_ENST00000543245.2_Missense_Mutation_p.A439V	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain	416	Catalytic.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy derivation by oxidation of organic compounds (GO:0015980)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						ATAGAGGCCGCCATCAGCAAA	0.532																																						uc002gev.2		NA																	0				ovary(3)	3						c.(1246-1248)GCC>GTC		acyl-Coenzyme A dehydrogenase, very long chain							93.0	93.0	93.0					17																	7127027		2203	4300	6503	SO:0001583	missense	37				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial inner membrane|mitochondrial nucleoid	long-chain-acyl-CoA dehydrogenase activity	g.chr17:7127027C>T	BC012912	CCDS11090.1, CCDS42249.1, CCDS58509.1	17p13.1	2010-04-30	2010-04-30		ENSG00000072778	ENSG00000072778			92	protein-coding gene	gene with protein product		609575	"""acyl-Coenzyme A dehydrogenase, very long chain"""			8921384	Standard	NM_000018		Approved	VLCAD, LCACD, ACAD6	uc002gev.4	P49748	OTTHUMG00000102157	ENST00000356839.5:c.1247C>T	17.37:g.7127027C>T	ENSP00000349297:p.Ala416Val					ACADVL_uc010vtp.1_Missense_Mutation_p.A426V|ACADVL_uc002gew.2_Missense_Mutation_p.A394V|ACADVL_uc002gex.2_Missense_Mutation_p.A340V|uc002gey.1_5'Flank|MIR324_hsa-mir-324|MI0000813_5'Flank	p.A416V	NM_000018	NP_000009	P49748	ACADV_HUMAN			12	1398	+			416			Catalytic.		B4DEB6|F5H2A9|O76056|Q8WUL0	Missense_Mutation	SNP	ENST00000356839.5	37	c.1247C>T	CCDS11090.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.287288	0.59867	.	.	ENSG00000072778	ENST00000543245;ENST00000356839;ENST00000350303;ENST00000322910;ENST00000542255	D;D	0.96967	-4.19;-4.19	5.81	5.81	0.92471	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.051967	0.85682	D	0.000000	D	0.99089	0.9687	H	0.99475	4.585	0.80722	D	1	D;D;D	0.76494	0.997;0.997;0.999	D;D;D	0.70716	0.97;0.97;0.921	D	0.98945	1.0792	10	0.87932	D	0	.	17.6175	0.88071	0.0:1.0:0.0:0.0	.	439;394;416	F5H2A9;P49748-2;P49748	.;.;ACADV_HUMAN	V	439;462;394;416;462	ENSP00000438689:A439V;ENSP00000344152:A394V	ENSP00000325395:A416V	A	+	2	0	ACADVL	7067751	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.672000	0.74477	2.764000	0.94973	0.558000	0.71614	GCC		0.532	ACADVL-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220001.5	NM_000018		15	145	0	0	0	0	15	145				
NEURL4	84461	broad.mit.edu	37	17	7227188	7227188	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:7227188C>T	ENST00000399464.2	-	12	2221	c.2206G>A	c.(2206-2208)Gcc>Acc	p.A736T	NEURL4_ENST00000570460.1_Missense_Mutation_p.A714T|NEURL4_ENST00000315614.7_Missense_Mutation_p.A736T	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	736	NHR 4. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGGCGGAGGGCGGTGCGGCCC	0.622											OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002gga.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(2206-2208)GCC>ACC		neuralized homolog 4 isoform 1							72.0	84.0	80.0					17																	7227188		2094	4215	6309	SO:0001583	missense	84461						protein binding	g.chr17:7227188C>T		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.2206G>A	17.37:g.7227188C>T	ENSP00000382390:p.Ala736Thr		OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	640	NEURL4_uc002ggb.1_Missense_Mutation_p.A736T|NEURL4_uc002ggc.1_Missense_Mutation_p.A82T	p.A736T	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN			12	2213	-			736			NHR 4.		Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	ENST00000399464.2	37	c.2206G>A	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	C	32	5.158582	0.94686	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.74632	0.83;-0.86	5.7	5.7	0.88788	NEUZ (3);	0.057888	0.64402	D	0.000002	D	0.90160	0.6925	M	0.93241	3.395	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.92078	0.5670	10	0.72032	D	0.01	-19.8635	18.6186	0.91313	0.0:1.0:0.0:0.0	.	736;736	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	T	736	ENSP00000319826:A736T;ENSP00000382390:A736T	ENSP00000319826:A736T	A	-	1	0	NEURL4	7167912	1.000000	0.71417	0.272000	0.24630	0.845000	0.48019	7.319000	0.79040	2.688000	0.91661	0.655000	0.94253	GCC		0.622	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		8	105	0	0	0	0	8	105				
DNAH2	146754	broad.mit.edu	37	17	7701100	7701100	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:7701100C>G	ENST00000572933.1	+	53	9643	c.8183C>G	c.(8182-8184)tCt>tGt	p.S2728C	DNAH2_ENST00000389173.2_Missense_Mutation_p.S2728C			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2728	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTGTCACCCTCTGTCGTGCCC	0.522																																						uc002giu.1		NA																	0				ovary(6)|skin(6)|central_nervous_system(1)	13						c.(8182-8184)TCT>TGT		dynein heavy chain domain 3							165.0	144.0	151.0					17																	7701100		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7701100C>G	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.8183C>G	17.37:g.7701100C>G	ENSP00000458355:p.Ser2728Cys						p.S2728C	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			52	8197	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2728			AAA 4 (By similarity).|TPR 2.		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.8183C>G	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291254	0.40494	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.43294	0.95	4.84	3.82	0.43975	.	0.413848	0.24314	N	0.039613	T	0.50973	0.1647	M	0.64404	1.975	0.80722	D	1	B	0.30482	0.281	P	0.45660	0.489	T	0.55755	-0.8091	10	0.59425	D	0.04	.	10.6989	0.45915	0.0:0.7306:0.2693:0.0	.	2728	Q9P225	DYH2_HUMAN	C	2728	ENSP00000373825:S2728C	ENSP00000353818:S2728C	S	+	2	0	DNAH2	7641825	0.520000	0.26250	0.027000	0.17364	0.233000	0.25261	4.382000	0.59594	2.519000	0.84933	0.650000	0.86243	TCT		0.522	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		18	220	0	0	0	0	18	220				
MYH2	4620	broad.mit.edu	37	17	10430045	10430045	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:10430045T>C	ENST00000245503.5	-	30	4442	c.4058A>G	c.(4057-4059)tAt>tGt	p.Y1353C	MYH2_ENST00000397183.2_Missense_Mutation_p.Y1353C|MYH2_ENST00000532183.2_Intron|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1353					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTCCTCCTCATACTGTTCCCG	0.582																																						uc010coi.2		NA																	0				ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(4057-4059)TAT>TGT		myosin heavy chain IIa							137.0	126.0	130.0					17																	10430045		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10430045T>C		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.4058A>G	17.37:g.10430045T>C	ENSP00000245503:p.Tyr1353Cys					uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.Y1353C|MYH2_uc010coj.2_Intron	p.Y1353C	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			30	4186	-			1353			Potential.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.4058A>G	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	T	18.75	3.689928	0.68271	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	T;T	0.78924	-1.22;-1.22	5.35	5.35	0.76521	Myosin tail (1);	0.000000	0.34959	U	0.003558	D	0.89497	0.6732	M	0.88512	2.96	0.46725	D	0.999179	D	0.76494	0.999	D	0.73380	0.98	D	0.91538	0.5247	10	0.87932	D	0	.	15.4969	0.75662	0.0:0.0:0.0:1.0	.	1353	Q9UKX2	MYH2_HUMAN	C	1353	ENSP00000245503:Y1353C;ENSP00000380367:Y1353C	ENSP00000245503:Y1353C	Y	-	2	0	MYH2	10370770	0.994000	0.37717	0.966000	0.40874	0.999000	0.98932	2.518000	0.45537	2.243000	0.73865	0.533000	0.62120	TAT		0.582	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		15	175	0	0	0	0	15	175				
MYH3	4621	broad.mit.edu	37	17	10541713	10541713	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:10541713C>T	ENST00000583535.1	-	27	3463	c.3376G>A	c.(3376-3378)Gag>Aag	p.E1126K	MYH3_ENST00000226209.7_Missense_Mutation_p.E1126K	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1126					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GTGGCCCTCTCCGCCTCTATC	0.657																																						uc002gmq.1		NA																	0				ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(3376-3378)GAG>AAG		myosin, heavy chain 3, skeletal muscle,							25.0	28.0	27.0					17																	10541713		2200	4292	6492	SO:0001583	missense	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10541713C>T		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.3376G>A	17.37:g.10541713C>T	ENSP00000464317:p.Glu1126Lys						p.E1126K	NM_002470	NP_002461	P11055	MYH3_HUMAN			26	3453	-			1126			Potential.		Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	c.3376G>A	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.976804	0.92982	.	.	ENSG00000109063	ENST00000226209	D	0.85013	-1.93	5.34	5.34	0.76211	Myosin tail (1);	.	.	.	.	D	0.95859	0.8652	H	0.98351	4.21	0.52501	D	0.999953	D	0.89917	1.0	D	0.80764	0.994	D	0.97423	1.0010	9	0.87932	D	0	.	19.4024	0.94635	0.0:1.0:0.0:0.0	.	1126	P11055	MYH3_HUMAN	K	1126	ENSP00000226209:E1126K	ENSP00000226209:E1126K	E	-	1	0	MYH3	10482438	1.000000	0.71417	0.941000	0.38009	0.499000	0.33736	7.747000	0.85070	2.654000	0.90174	0.563000	0.77884	GAG		0.657	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		5	66	0	0	0	0	5	66				
ARHGAP44	9912	broad.mit.edu	37	17	12847469	12847469	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:12847469G>A	ENST00000379672.5	+	10	1117	c.817G>A	c.(817-819)Gag>Aag	p.E273K	ARHGAP44_ENST00000340825.3_Missense_Mutation_p.E273K|ARHGAP44_ENST00000262444.9_Missense_Mutation_p.E273K	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	273	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				exocytosis (GO:0006887)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endosome (GO:0005768)|leading edge membrane (GO:0031256)|synapse (GO:0045202)	GTPase activator activity (GO:0005096)|phospholipid binding (GO:0005543)			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						CTTCCCCATCGAGGCGTGTGT	0.642																																						uc002gnr.3		NA																	0					0						c.(817-819)GAG>AAG		Rho GTPase-activating protein RICH2							53.0	64.0	60.0					17																	12847469		2116	4239	6355	SO:0001583	missense	9912				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr17:12847469G>A		CCDS45616.1	17p12	2011-06-29			ENSG00000006740	ENSG00000006740		"""Rho GTPase activating proteins"""	29096	protein-coding gene	gene with protein product						19273615	Standard	NM_014859		Approved	KIAA0672, RICH-2, RICH2	uc002gnr.4	Q17R89	OTTHUMG00000058765	ENST00000379672.5:c.817G>A	17.37:g.12847469G>A	ENSP00000368994:p.Glu273Lys					RICH2_uc010vvk.1_Missense_Mutation_p.E273K|RICH2_uc010vvl.1_Missense_Mutation_p.E273K|RICH2_uc002gns.3_Missense_Mutation_p.E73K|RICH2_uc010vvm.1_Missense_Mutation_p.E273K|RICH2_uc010vvn.1_RNA|RICH2_uc002gnt.1_5'UTR	p.E273K	NM_014859	NP_055674	Q17R89	RHG44_HUMAN			10	1144	+			273			Rho-GAP.		A6NCP5|A8MQB2|O75160|Q7Z5Z7|Q9Y4Q4	Missense_Mutation	SNP	ENST00000379672.5	37	c.817G>A	CCDS45616.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.822343	0.71028	.	.	ENSG00000006740	ENST00000379672;ENST00000340825	T;T	0.37058	1.22;1.22	5.57	5.57	0.84162	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.60235	0.2253	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.61426	-0.7065	10	0.87932	D	0	.	17.4003	0.87458	0.0:0.0:1.0:0.0	.	273;273	A6NCP5;Q17R89	.;RHG44_HUMAN	K	273	ENSP00000368994:E273K;ENSP00000342566:E273K	ENSP00000342566:E273K	E	+	1	0	ARHGAP44	12788194	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.813000	0.99286	2.781000	0.95711	0.655000	0.94253	GAG		0.642	ARHGAP44-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441566.1	NM_014859		11	64	0	0	0	0	11	64				
MIEF2	125170	broad.mit.edu	37	17	18167389	18167389	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:18167389C>T	ENST00000323019.4	+	4	887	c.676C>T	c.(676-678)Cgc>Tgc	p.R226C	MIEF2_ENST00000395706.2_Missense_Mutation_p.R237C|MIEF2_ENST00000395704.4_Missense_Mutation_p.A201V|MIEF2_ENST00000577216.1_3'UTR	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	MID49_HUMAN	mitochondrial elongation factor 2	226					mitochondrion organization (GO:0007005)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)											CTGGGCCGTGCGCAGGACGCA	0.711																																						uc002gst.2		NA																	0					0						c.(676-678)CGC>TGC		Smith-Magenis syndrome chromosome region,							8.0	7.0	8.0					17																	18167389		2143	4219	6362	SO:0001583	missense	125170					integral to membrane	protein binding	g.chr17:18167389C>T	BC014973	CCDS11193.1, CCDS45624.1, CCDS45625.1	17p11.2	2013-09-23	2013-09-23	2013-09-23	ENSG00000177427	ENSG00000177427			17920	protein-coding gene	gene with protein product		615498	"""Smith-Magenis syndrome chromosome region, candidate 7"""	SMCR7		11997338, 21508961	Standard	NM_001144900		Approved	MGC23130, MiD49	uc010vxq.2	Q96C03	OTTHUMG00000059392	ENST00000323019.4:c.676C>T	17.37:g.18167389C>T	ENSP00000323591:p.Arg226Cys					SMCR7_uc002gsu.2_Missense_Mutation_p.A201V|SMCR7_uc010vxq.1_Missense_Mutation_p.R237C	p.R226C	NM_139162	NP_631901	Q96C03	SMCR7_HUMAN			4	887	+	all_neural(463;0.228)		226					J3KPT3|Q6ZRD4|Q96N07	Missense_Mutation	SNP	ENST00000323019.4	37	c.676C>T	CCDS11193.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.66|14.66	2.600600|2.600600	0.46423|0.46423	.|.	.|.	ENSG00000177427|ENSG00000177427	ENST00000395704|ENST00000323019;ENST00000395706	T|T;T	0.35789|0.20069	1.29|2.11;2.1	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	.|0.176399	.|0.47852	.|D	.|0.000203	T|T	0.39410|0.39410	0.1077|0.1077	.|.	.|.	.|.	0.54753|0.54753	D|D	0.999983|0.999983	P|D	0.47841|0.76494	0.901|0.999	B|P	0.37601|0.57846	0.254|0.828	T|T	0.24693|0.24693	-1.0153|-1.0153	8|9	0.87932|0.87932	D|D	0|0	-24.2242|-24.2242	12.198|12.198	0.54309|0.54309	0.2894:0.7106:0.0:0.0|0.2894:0.7106:0.0:0.0	.|.	201|226	Q96C03-2|Q96C03	.|MID49_HUMAN	V|C	201|226;237	ENSP00000379056:A201V|ENSP00000323591:R226C;ENSP00000379057:R237C	ENSP00000379056:A201V|ENSP00000323591:R226C	A|R	+|+	2|1	0|0	SMCR7|SMCR7	18108114|18108114	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.917000|0.917000	0.54804|0.54804	3.920000|3.920000	0.56446|0.56446	2.484000|2.484000	0.83849|0.83849	0.563000|0.563000	0.77884|0.77884	GCG|CGC		0.711	MIEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132060.2	NM_139162		3	7	0	0	0	0	3	7				
SLC13A2	9058	broad.mit.edu	37	17	26820669	26820669	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:26820669G>T	ENST00000314669.5	+	7	1379	c.959G>T	c.(958-960)aGg>aTg	p.R320M	SLC13A2_ENST00000537681.1_Missense_Mutation_p.R249M|SLC13A2_ENST00000444914.3_Missense_Mutation_p.R369M|SLC13A2_ENST00000545060.1_Missense_Mutation_p.R277M	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	320					dicarboxylic acid transport (GO:0006835)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	low-affinity sodium:dicarboxylate symporter activity (GO:0015361)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	ACCGAGCACAGGCTGCTGGGC	0.587																																						uc002hbh.2		NA																	0					0						c.(958-960)AGG>ATG		solute carrier family 13, member 2 isoform b	Succinic acid(DB00139)						61.0	55.0	57.0					17																	26820669		2203	4300	6503	SO:0001583	missense	9058					integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity	g.chr17:26820669G>T	U26209	CCDS11231.1, CCDS54098.1	17p13.2	2013-05-22			ENSG00000007216	ENSG00000007216		"""Solute carriers"""	10917	protein-coding gene	gene with protein product		604148				8967342, 10343111	Standard	NM_001145975		Approved	NaDC-1	uc010wan.2	Q13183	OTTHUMG00000132523	ENST00000314669.5:c.959G>T	17.37:g.26820669G>T	ENSP00000316202:p.Arg320Met					SLC13A2_uc010wal.1_Missense_Mutation_p.R277M|SLC13A2_uc010wam.1_Missense_Mutation_p.R276M|SLC13A2_uc010wan.1_Missense_Mutation_p.R369M|SLC13A2_uc010wao.1_Missense_Mutation_p.R277M|SLC13A2_uc002hbi.2_Missense_Mutation_p.R249M	p.R320M	NM_003984	NP_003975	Q13183	S13A2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	7	1026	+	all_lung(13;0.000871)|Lung NSC(42;0.0027)		320					B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Missense_Mutation	SNP	ENST00000314669.5	37	c.959G>T	CCDS11231.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.421295	0.62622	.	.	ENSG00000007216	ENST00000314669;ENST00000444914;ENST00000545060;ENST00000541739;ENST00000537681	T;T;T;T	0.03152	4.03;4.03;4.03;4.03	4.46	-7.37	0.01412	.	0.501262	0.24254	N	0.040153	T	0.10252	0.0251	M	0.77103	2.36	0.22156	N	0.999324	P;P;P;P;P	0.52170	0.951;0.627;0.844;0.708;0.844	P;P;P;P;P	0.56788	0.792;0.738;0.657;0.784;0.806	T	0.00225	-1.1901	10	0.72032	D	0.01	-8.1914	13.603	0.62031	0.4813:0.0:0.5187:0.0	.	277;369;276;249;320	F5GWV6;E7ETH5;B4E1M6;G3V1L2;Q13183	.;.;.;.;S13A2_HUMAN	M	320;369;277;276;249	ENSP00000316202:R320M;ENSP00000392411:R369M;ENSP00000441935:R277M;ENSP00000440802:R249M	ENSP00000316202:R320M	R	+	2	0	SLC13A2	23844796	0.969000	0.33509	0.120000	0.21714	0.934000	0.57294	0.760000	0.26475	-1.543000	0.01723	-0.403000	0.06358	AGG		0.587	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255722.1	NM_003984		5	78	1	0	3.6e-05	3.76e-05	5	78				
ATAD5	79915	broad.mit.edu	37	17	29206468	29206468	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:29206468G>A	ENST00000321990.4	+	18	4418	c.4040G>A	c.(4039-4041)gGc>gAc	p.G1347D		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1347					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				ATGTTTGATGGCTGCTTTGAA	0.294																																						uc002hfs.1		NA																	0				ovary(3)	3						c.(4039-4041)GGC>GAC		ATPase family, AAA domain containing 5							133.0	129.0	130.0					17																	29206468		2203	4300	6503	SO:0001583	missense	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29206468G>A		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.4040G>A	17.37:g.29206468G>A	ENSP00000313171:p.Gly1347Asp						p.G1347D	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN			18	4386	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	1347					Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	c.4040G>A	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.529088	0.85706	.	.	ENSG00000176208	ENST00000321990	T	0.15487	2.42	4.61	4.61	0.57282	ATPase, AAA+ type, core (1);	0.234209	0.43416	D	0.000574	T	0.39172	0.1068	L	0.58428	1.81	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.10706	-1.0618	10	0.40728	T	0.16	.	17.8551	0.88760	0.0:0.0:1.0:0.0	.	1347	Q96QE3	ATAD5_HUMAN	D	1347	ENSP00000313171:G1347D	ENSP00000313171:G1347D	G	+	2	0	ATAD5	26230594	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	8.269000	0.89878	2.267000	0.75376	0.573000	0.79308	GGC		0.294	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		16	115	0	0	0	0	16	115				
MRM1	79922	broad.mit.edu	37	17	34964340	34964340	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:34964340G>A	ENST00000585770.1	+	4	448	c.190G>A	c.(190-192)Gag>Aag	p.E64K	MRM1_ENST00000250156.7_Missense_Mutation_p.E259K					mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae)											NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		TGCAGGGAATGAGGGCTCAGG	0.617																																						uc002hne.2		NA																	0					0						c.(775-777)GAG>AAG		mitochondrial rRNA methyltransferase 1 homolog							66.0	63.0	64.0					17																	34964340		2203	4300	6503	SO:0001583	missense	79922				RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity	g.chr17:34964340G>A	AK026231	CCDS32631.1	17q12	2014-05-06			ENSG00000129282	ENSG00000278619			26202	protein-coding gene	gene with protein product						24036117	Standard	NM_024864		Approved	FLJ22578	uc002hne.3	Q6IN84	OTTHUMG00000188443	ENST00000585770.1:c.190G>A	17.37:g.34964340G>A	ENSP00000465317:p.Glu64Lys					MRM1_uc002hnf.2_Missense_Mutation_p.E64K	p.E259K	NM_024864	NP_079140	Q6IN84	MRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	4	990	+		Breast(25;0.00957)|Ovarian(249;0.17)	259						Missense_Mutation	SNP	ENST00000585770.1	37	c.775G>A		.	.	.	.	.	.	.	.	.	.	G	25.8	4.678614	0.88542	.	.	ENSG00000129282	ENST00000250156	D	0.83914	-1.78	5.12	5.12	0.69794	tRNA/rRNA methyltransferase, SpoU (1);	0.000000	0.85682	D	0.000000	D	0.95169	0.8434	H	0.99325	4.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97312	0.9938	10	0.87932	D	0	-23.7372	16.3217	0.82953	0.0:0.0:1.0:0.0	.	259	Q6IN84	MRM1_HUMAN	K	259	ENSP00000250156:E259K	ENSP00000250156:E259K	E	+	1	0	MRM1	32038453	1.000000	0.71417	0.998000	0.56505	0.513000	0.34164	8.145000	0.89625	2.399000	0.81585	0.462000	0.41574	GAG		0.617	MRM1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000451392.1	NM_024864		8	88	0	0	0	0	8	88				
IKZF3	22806	broad.mit.edu	37	17	37922297	37922297	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:37922297C>T	ENST00000346872.3	-	8	1337	c.1276G>A	c.(1276-1278)Gaa>Aaa	p.E426K	IKZF3_ENST00000439016.2_Missense_Mutation_p.E331K|IKZF3_ENST00000439167.2_Missense_Mutation_p.E353K|IKZF3_ENST00000351680.3_Missense_Mutation_p.E387K|IKZF3_ENST00000467757.1_Missense_Mutation_p.E370K|IKZF3_ENST00000394189.2_Missense_Mutation_p.E244K|IKZF3_ENST00000377944.3_Missense_Mutation_p.E283K|IKZF3_ENST00000377958.2_Missense_Mutation_p.E339K|RP11-94L15.2_ENST00000488188.2_lincRNA|IKZF3_ENST00000346243.3_Missense_Mutation_p.E348K|IKZF3_ENST00000535189.1_Missense_Mutation_p.E392K|IKZF3_ENST00000377945.3_Missense_Mutation_p.E292K|IKZF3_ENST00000350532.3_Missense_Mutation_p.E387K|IKZF3_ENST00000377952.2_Missense_Mutation_p.E205K|IKZF3_ENST00000583368.1_Missense_Mutation_p.E179K	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	426					B cell activation (GO:0042113)|mesoderm development (GO:0007498)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of B cell proliferation (GO:0030888)|regulation of lymphocyte differentiation (GO:0045619)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TTGAGGAGTTCGTAAGAGCGG	0.552																																						uc002hsu.2		NA																	0				lung(2)|kidney(2)|skin(2)	6						c.(1276-1278)GAA>AAA		aiolos isoform 1							144.0	140.0	142.0					17																	37922297		2203	4300	6503	SO:0001583	missense	22806				B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:37922297C>T	AF129512	CCDS11346.1, CCDS11347.1, CCDS11348.1, CCDS11349.1, CCDS11350.1, CCDS11351.1, CCDS58539.1, CCDS58540.1, CCDS58541.1, CCDS58542.1, CCDS58543.1, CCDS58544.1, CCDS58545.1, CCDS74055.1	17q11.2	2013-01-08	2006-08-25	2006-08-25	ENSG00000161405	ENSG00000161405		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13178	protein-coding gene	gene with protein product		606221	"""zinc finger protein, subfamily 1A, 3 (Aiolos)"""	ZNFN1A3		9155026, 10552935	Standard	NM_012481		Approved	Aiolos	uc002hsu.4	Q9UKT9	OTTHUMG00000133250	ENST00000346872.3:c.1276G>A	17.37:g.37922297C>T	ENSP00000344544:p.Glu426Lys					IKZF3_uc002htd.2_Missense_Mutation_p.E392K|IKZF3_uc010cwd.2_Missense_Mutation_p.E283K|IKZF3_uc002hsv.2_Missense_Mutation_p.E353K|IKZF3_uc010cwe.2_Missense_Mutation_p.E292K|IKZF3_uc010cwf.2_Missense_Mutation_p.E244K|IKZF3_uc010cwg.2_Missense_Mutation_p.E205K|IKZF3_uc002hsw.2_Missense_Mutation_p.E387K|IKZF3_uc002hsx.2_Missense_Mutation_p.E370K|IKZF3_uc002hsy.2_Missense_Mutation_p.E387K|IKZF3_uc002hsz.2_Missense_Mutation_p.E331K|IKZF3_uc002hta.2_Missense_Mutation_p.E348K|IKZF3_uc002htb.2_RNA|IKZF3_uc010cwh.2_Missense_Mutation_p.E339K|IKZF3_uc002htc.2_Missense_Mutation_p.E179K|IKZF3_uc010wel.1_Missense_Mutation_p.E179K	p.E426K	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		8	1338	-	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		426					B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Missense_Mutation	SNP	ENST00000346872.3	37	c.1276G>A	CCDS11346.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.515854	0.85495	.	.	ENSG00000161405	ENST00000488188;ENST00000346872;ENST00000377945;ENST00000394189;ENST00000377944;ENST00000377958;ENST00000377952;ENST00000535189;ENST00000351680;ENST00000346243;ENST00000350532;ENST00000467757	T;T;T;T;T;T;T;T;T;T	0.10099	3.35;3.38;3.17;2.91;3.57;3.17;3.28;3.27;3.16;4.2	5.72	5.72	0.89469	.	0.096053	0.45606	D	0.000359	T	0.22513	0.0543	M	0.61703	1.905	0.80722	D	1	P;D;P;D;D;P;B;P;B;B;P;P;B	0.58970	0.939;0.958;0.891;0.958;0.984;0.622;0.337;0.693;0.293;0.313;0.482;0.878;0.108	B;P;B;B;P;B;B;B;B;B;B;B;B	0.48770	0.315;0.45;0.266;0.328;0.589;0.192;0.105;0.178;0.135;0.192;0.105;0.14;0.043	T	0.00232	-1.1895	10	0.62326	D	0.03	-7.7106	19.8646	0.96799	0.0:1.0:0.0:0.0	.	339;205;244;292;283;392;348;331;387;370;387;353;426	Q9UKT9-9;Q9UKT9-12;Q9UKT9-11;Q9UKT9-13;Q9UKT9-10;Q9UKT9-7;Q9UKT9-6;Q9UKT9-5;Q9UKT9-4;Q9UKT9-2;Q9UKT9-3;Q9UKT9-8;Q9UKT9	.;.;.;.;.;.;.;.;.;.;.;.;IKZF3_HUMAN	K	426;331;292;244;283;339;205;392;387;348;387;370	ENSP00000367180:E292K;ENSP00000377741:E244K;ENSP00000367179:E283K;ENSP00000367194:E339K;ENSP00000367188:E205K;ENSP00000438972:E392K;ENSP00000345622:E387K;ENSP00000341977:E348K;ENSP00000344471:E387K;ENSP00000420463:E370K	ENSP00000341977:E348K	E	-	1	0	IKZF3	35175823	1.000000	0.71417	0.998000	0.56505	0.937000	0.57800	4.835000	0.62781	2.702000	0.92279	0.655000	0.94253	GAA		0.552	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257004.2	NM_012481		23	244	0	0	0	0	23	244				
MLX	6945	broad.mit.edu	37	17	40722105	40722105	+	Silent	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:40722105C>A	ENST00000246912.4	+	7	797	c.744C>A	c.(742-744)tcC>tcA	p.S248S	MLX_ENST00000435881.2_Silent_p.S194S|MLX_ENST00000346833.4_Silent_p.S164S	NM_170607.2	NP_733752.1	Q9UH92	MLX_HUMAN	MLX, MAX dimerization protein	248					energy reserve metabolic process (GO:0006112)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|positive regulation of cellular metabolic process (GO:0031325)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			kidney(3)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	10		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)		BRCA - Breast invasive adenocarcinoma(366;0.129)		TCATGGATTCCCTGTTCCAGT	0.537																																					GBM(121;657 1601 4665 24731 34640)	uc002iag.2		NA																	0					0						c.(742-744)TCC>TCA		transcription factor-like protein 4 isoform							153.0	127.0	136.0					17																	40722105		2203	4300	6503	SO:0001819	synonymous_variant	6945				energy reserve metabolic process|negative regulation of transcription, DNA-dependent|positive regulation of cellular metabolic process	cytoplasm|nucleus	DNA binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr17:40722105C>A	AF213668	CCDS11430.1, CCDS42341.1, CCDS45687.1	17q21.1	2013-05-21	2012-11-15	2005-02-11		ENSG00000108788		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	11645	protein-coding gene	gene with protein product		602976	"""transcription factor-like 4"", ""MAX-like protein X"""	TCFL4		8973301	Standard	NM_170607		Approved	MAD7, MXD7, bHLHd13	uc002iag.3	Q9UH92		ENST00000246912.4:c.744C>A	17.37:g.40722105C>A						MLX_uc002iaf.2_Silent_p.S194S|MLX_uc002iah.2_Silent_p.S164S	p.S248S	NM_170607	NP_733752	Q9UH92	MLX_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.129)	7	809	+		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)	248					A8K2J3|B2RAV8|B2RD73|Q53XM6|Q96FL2|Q9H2V0|Q9H2V1|Q9H2V2|Q9NXN3	Silent	SNP	ENST00000246912.4	37	c.744C>A	CCDS11430.1																																																																																				0.537	MLX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450415.1	NM_170607		10	143	1	0	2.53e-12	2.78e-12	10	143				
RPRML	388394	broad.mit.edu	37	17	45056080	45056080	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:45056080C>G	ENST00000322329.3	-	1	534	c.294G>C	c.(292-294)atG>atC	p.M98I	LRRC37A17P_ENST00000570478.1_RNA|RP11-156P1.2_ENST00000571841.1_Intron|GOSR2_ENST00000439730.2_Intron	NM_203400.4	NP_981945.1	Q8N4K4	RPRML_HUMAN	reprimo-like	98						integral component of membrane (GO:0016021)				lung(1)	1						GAAAGTTGATCATGCTCTCGG	0.657																																						uc002ilb.2		NA																	0					0						c.(292-294)ATG>ATC		reprimo-like							33.0	31.0	32.0					17																	45056080		2202	4300	6502	SO:0001583	missense	388394					integral to membrane		g.chr17:45056080C>G	BC033942	CCDS11508.1	17q21.32	2006-09-26				ENSG00000179673			32422	protein-coding gene	gene with protein product							Standard	NM_203400		Approved	MGC43894	uc002ilb.3	Q8N4K4		ENST00000322329.3:c.294G>C	17.37:g.45056080C>G	ENSP00000318032:p.Met98Ile					GOSR2_uc010wkh.1_Intron	p.M98I	NM_203400	NP_981945	Q8N4K4	RPRML_HUMAN			1	535	-			98						Missense_Mutation	SNP	ENST00000322329.3	37	c.294G>C	CCDS11508.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759095	0.89843	.	.	ENSG00000179673	ENST00000322329	.	.	.	3.72	3.72	0.42706	.	0.000000	0.85682	D	0.000000	T	0.66336	0.2779	L	0.60455	1.87	0.80722	D	1	D	0.61697	0.99	P	0.56216	0.794	T	0.72235	-0.4352	9	0.87932	D	0	-14.9721	14.3888	0.66963	0.0:1.0:0.0:0.0	.	98	Q8N4K4	RPRML_HUMAN	I	98	.	ENSP00000318032:M98I	M	-	3	0	RPRML	42411079	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.895000	0.75660	1.889000	0.54706	0.313000	0.20887	ATG		0.657	RPRML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440919.1	NM_203400		5	32	0	0	0	0	5	32				
OSBPL7	114881	broad.mit.edu	37	17	45888197	45888197	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:45888197G>A	ENST00000007414.3	-	17	1933	c.1742C>T	c.(1741-1743)tCc>tTc	p.S581F	OSBPL7_ENST00000392507.3_Missense_Mutation_p.S581F	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	581					cellular response to cholesterol (GO:0071397)|lipid transport (GO:0006869)|positive regulation of proteasomal protein catabolic process (GO:1901800)	autophagic vacuole (GO:0005776)|cytosol (GO:0005829)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						GGGGTGGTGGGAGACCTTGGT	0.587																																						uc002ilx.1		NA																	0					0						c.(1741-1743)TCC>TTC		oxysterol-binding protein-like protein 7							36.0	34.0	35.0					17																	45888197		2203	4300	6503	SO:0001583	missense	114881				lipid transport		lipid binding	g.chr17:45888197G>A	AF392446	CCDS11515.1	17q21	2013-01-10				ENSG00000006025		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16387	protein-coding gene	gene with protein product		606735				14593528, 11735225	Standard	NM_145798		Approved	ORP7, MGC71150	uc002ilx.1	Q9BZF2		ENST00000007414.3:c.1742C>T	17.37:g.45888197G>A	ENSP00000007414:p.Ser581Phe					OSBPL7_uc002ilw.1_Missense_Mutation_p.S143F	p.S581F	NM_145798	NP_665741	Q9BZF2	OSBL7_HUMAN			17	1945	-			581					D3DTT6|Q6PIV6	Missense_Mutation	SNP	ENST00000007414.3	37	c.1742C>T	CCDS11515.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.649618	0.67358	.	.	ENSG00000006025	ENST00000007414;ENST00000392507	T;T	0.55234	0.53;0.53	4.49	4.49	0.54785	Oxysterol-binding protein, conserved site (1);	0.295867	0.32244	N	0.006365	T	0.77598	0.4154	H	0.96398	3.815	0.54753	D	0.999987	D	0.61697	0.99	P	0.62298	0.9	D	0.84082	0.0385	10	0.87932	D	0	-18.1664	11.3866	0.49789	0.0:0.3174:0.6826:0.0	.	581	Q9BZF2	OSBL7_HUMAN	F	581	ENSP00000007414:S581F;ENSP00000376295:S581F	ENSP00000007414:S581F	S	-	2	0	OSBPL7	43243196	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	4.649000	0.61433	2.028000	0.59812	0.491000	0.48974	TCC		0.587	OSBPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441367.1	NM_017731		4	36	0	0	0	0	4	36				
SP6	80320	broad.mit.edu	37	17	45924834	45924834	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:45924834C>T	ENST00000536300.1	-	2	1293	c.962G>A	c.(961-963)cGc>cAc	p.R321H	SP6_ENST00000342234.2_Missense_Mutation_p.R321H	NM_001258248.1	NP_001245177.1	Q3SY56	SP6_HUMAN	Sp6 transcription factor	321					positive regulation of cell proliferation (GO:0008284)|regulation of odontogenesis (GO:0042481)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						CATGAAGACGCGGCTGCAGAC	0.682																																						uc002img.1		NA																	0				skin(1)	1						c.(961-963)CGC>CAC		Sp6 transcription factor							41.0	38.0	39.0					17																	45924834		2203	4300	6503	SO:0001583	missense	80320				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:45924834C>T		CCDS11520.1	17q21.32	2013-01-08			ENSG00000189120	ENSG00000189120		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	14530	protein-coding gene	gene with protein product	"""epiprofin"""	608613				11087666, 14551215	Standard	NM_001258248		Approved	KLF14, Epfn	uc002img.2	Q3SY56	OTTHUMG00000132067	ENST00000536300.1:c.962G>A	17.37:g.45924834C>T	ENSP00000438209:p.Arg321His					SP6_uc002imh.1_Missense_Mutation_p.R321H	p.R321H	NM_199262	NP_954871	Q3SY56	SP6_HUMAN			2	1294	-			321			C2H2-type 3.		B3KXS4	Missense_Mutation	SNP	ENST00000536300.1	37	c.962G>A	CCDS11520.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.711973	0.68730	.	.	ENSG00000189120	ENST00000342234;ENST00000536300	T;T	0.19669	2.13;2.13	4.4	3.42	0.39159	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.174976	0.26776	N	0.022552	T	0.42720	0.1215	M	0.67517	2.055	0.36853	D	0.88799	D	0.89917	1.0	D	0.79784	0.993	T	0.53592	-0.8417	10	0.87932	D	0	.	12.5426	0.56179	0.1682:0.8318:0.0:0.0	.	321	Q3SY56	SP6_HUMAN	H	321	ENSP00000340799:R321H;ENSP00000438209:R321H	ENSP00000340799:R321H	R	-	2	0	SP6	43279833	0.829000	0.29322	0.392000	0.26245	0.936000	0.57629	1.517000	0.35867	1.034000	0.39945	0.462000	0.41574	CGC		0.682	SP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441395.1	NM_199262		5	70	0	0	0	0	5	70				
FAM117A	81558	broad.mit.edu	37	17	47797166	47797166	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:47797166C>G	ENST00000240364.2	-	5	743	c.664G>C	c.(664-666)Gag>Cag	p.E222Q	FAM117A_ENST00000513602.1_5'UTR|RP11-613C6.2_ENST00000512720.1_RNA|FAM117A_ENST00000514018.1_5'UTR	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	222										haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						AATACCTCCTCCAGCTCTTGG	0.637																																						uc002ipk.2		NA																	0				ovary(1)	1						c.(664-666)GAG>CAG		family with sequence similarity 117, member A							83.0	90.0	87.0					17																	47797166		2202	4300	6502	SO:0001583	missense	81558							g.chr17:47797166C>G	BC037572	CCDS11553.1	17q21.33	2006-04-26				ENSG00000121104			24179	protein-coding gene	gene with protein product	"""C/EBP induced protein"""					12477932	Standard	NM_030802		Approved		uc002ipk.3	Q9C073		ENST00000240364.2:c.664G>C	17.37:g.47797166C>G	ENSP00000240364:p.Glu222Gln					FAM117A_uc010wlz.1_5'UTR	p.E222Q	NM_030802	NP_110429	Q9C073	F117A_HUMAN			5	733	-			222					B7Z7Q3	Missense_Mutation	SNP	ENST00000240364.2	37	c.664G>C	CCDS11553.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.982486	0.93044	.	.	ENSG00000121104	ENST00000240364;ENST00000511743;ENST00000506156	.	.	.	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.66752	0.2821	L	0.55990	1.75	0.80722	D	1	D	0.63046	0.992	P	0.55455	0.776	T	0.68965	-0.5270	9	0.59425	D	0.04	-25.9364	16.4182	0.83750	0.0:1.0:0.0:0.0	.	222	Q9C073	F117A_HUMAN	Q	222;112;190	.	ENSP00000240364:E222Q	E	-	1	0	FAM117A	45152165	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.880000	0.75578	2.632000	0.89209	0.655000	0.94253	GAG		0.637	FAM117A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365736.1	NM_030802		13	188	0	0	0	0	13	188				
USP32	84669	broad.mit.edu	37	17	58303585	58303585	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:58303585T>C	ENST00000300896.4	-	13	1441	c.1247A>G	c.(1246-1248)aAc>aGc	p.N416S	USP32_ENST00000592339.1_Missense_Mutation_p.N86S	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	416	DUSP. {ECO:0000255|PROSITE- ProRule:PRU00613}.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TACCACAGGGTTGGCATCCTA	0.368																																						uc002iyo.1		NA																	0				lung(2)|breast(2)|large_intestine(1)	5						c.(1246-1248)AAC>AGC		ubiquitin specific protease 32							71.0	66.0	68.0					17																	58303585		2203	4300	6503	SO:0001583	missense	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58303585T>C	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.1247A>G	17.37:g.58303585T>C	ENSP00000300896:p.Asn416Ser					USP32_uc002iyn.1_Missense_Mutation_p.N86S	p.N416S	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		13	1533	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		416			DUSP.		Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	37	c.1247A>G	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	T	3.665	-0.068738	0.07228	.	.	ENSG00000170832	ENST00000300896	T	0.41400	1.0	5.43	0.733	0.18289	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (3);	0.292253	0.41605	N	0.000859	T	0.21347	0.0514	N	0.22421	0.69	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28106	-1.0054	10	0.05351	T	0.99	.	9.4613	0.38787	0.0:0.5482:0.0:0.4518	.	416	Q8NFA0	UBP32_HUMAN	S	416	ENSP00000300896:N416S	ENSP00000300896:N416S	N	-	2	0	USP32	55658367	1.000000	0.71417	0.983000	0.44433	0.811000	0.45836	0.513000	0.22770	-0.108000	0.12066	-0.375000	0.07067	AAC		0.368	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582		8	83	0	0	0	0	8	83				
SMURF2	64750	broad.mit.edu	37	17	62543753	62543753	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:62543753G>A	ENST00000262435.9	-	17	2223	c.2036C>T	c.(2035-2037)tCt>tTt	p.S679F		NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	679	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				BMP signaling pathway (GO:0030509)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|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)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|SMAD binding (GO:0046332)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			AGGCACTCGAGAGGATCCTGT	0.547																																						uc002jep.1		NA																	0				skin(3)|lung(1)	4						c.(2035-2037)TCT>TTT		SMAD specific E3 ubiquitin protein ligase 2							121.0	111.0	114.0					17																	62543753		2203	4300	6503	SO:0001583	missense	64750				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity	g.chr17:62543753G>A	AF301463	CCDS32707.1	17q22-q23	2012-10-05			ENSG00000108854	ENSG00000108854			16809	protein-coding gene	gene with protein product		605532				11016919	Standard	XM_005257585		Approved		uc002jep.1	Q9HAU4	OTTHUMG00000179189	ENST00000262435.9:c.2036C>T	17.37:g.62543753G>A	ENSP00000262435:p.Ser679Phe					SMURF2_uc002jeq.1_Missense_Mutation_p.S438F|SMURF2_uc002jer.1_Missense_Mutation_p.S438F	p.S679F	NM_022739	NP_073576	Q9HAU4	SMUF2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;9.88e-12)		17	2424	-	Breast(5;1.32e-14)		679			HECT.		Q52LL1|Q9H260	Missense_Mutation	SNP	ENST00000262435.9	37	c.2036C>T	CCDS32707.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.993789	0.93167	.	.	ENSG00000108854	ENST00000262435	T	0.61274	0.12	5.89	5.89	0.94794	HECT (4);	0.050433	0.85682	D	0.000000	D	0.84674	0.5524	H	0.96460	3.825	0.80722	D	1	D	0.71674	0.998	D	0.72338	0.977	D	0.88675	0.3198	10	0.87932	D	0	.	20.2566	0.98424	0.0:0.0:1.0:0.0	.	679	Q9HAU4	SMUF2_HUMAN	F	679	ENSP00000262435:S679F	ENSP00000262435:S679F	S	-	2	0	SMURF2	59974215	1.000000	0.71417	0.457000	0.27056	0.914000	0.54420	9.751000	0.98889	2.793000	0.96121	0.561000	0.74099	TCT		0.547	SMURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445227.1	NM_022739		7	128	0	0	0	0	7	128				
SDK2	54549	broad.mit.edu	37	17	71334758	71334758	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:71334758C>T	ENST00000392650.3	-	45	6487	c.6487G>A	c.(6487-6489)Gct>Act	p.A2163T	SDK2_ENST00000388726.3_Missense_Mutation_p.A2144T|SDK2_ENST00000410094.1_5'UTR	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	2163					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GCTATGGGAGCCCGGGAGCCT	0.582																																						uc010dfm.2		NA																	0				ovary(2)	2						c.(6487-6489)GCT>ACT		sidekick 2							18.0	20.0	19.0					17																	71334758		2201	4294	6495	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71334758C>T	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.6487G>A	17.37:g.71334758C>T	ENSP00000376421:p.Ala2163Thr					SDK2_uc002jjt.3_Missense_Mutation_p.A1303T	p.A2163T	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN			45	6487	-			2163			Cytoplasmic (Potential).		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.6487G>A	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.799375	0.31869	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000410094	T;T;T	0.61742	0.08;0.09;1.33	4.62	4.62	0.57501	.	.	.	.	.	T	0.39064	0.1064	N	0.08118	0	0.58432	D	0.999999	B;B	0.12630	0.003;0.006	B;B	0.17098	0.007;0.017	T	0.18745	-1.0327	9	0.21540	T	0.41	.	17.4484	0.87585	0.0:1.0:0.0:0.0	.	2163;2144	Q58EX2;Q58EX2-3	SDK2_HUMAN;.	T	1787;2163;2144;1320;504	ENSP00000376421:A2163T;ENSP00000373378:A2144T;ENSP00000407098:A1320T	ENSP00000373378:A2144T	A	-	1	0	SDK2	68846353	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	3.336000	0.52113	2.273000	0.75805	0.557000	0.71058	GCT		0.582	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		8	42	0	0	0	0	8	42				
ITGB4	3691	broad.mit.edu	37	17	73738804	73738804	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:73738804G>A	ENST00000200181.3	+	25	3111	c.2924G>A	c.(2923-2925)gGc>gAc	p.G975D	ITGB4_ENST00000449880.2_Missense_Mutation_p.G975D|ITGB4_ENST00000579662.1_Missense_Mutation_p.G975D|ITGB4_ENST00000450894.3_Missense_Mutation_p.G975D|ITGB4_ENST00000339591.3_Missense_Mutation_p.G975D	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	975					amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCACCCTCGGCCGCCGCCTG	0.657																																						uc002jpg.2		NA																	0				lung(4)	4						c.(2923-2925)GGC>GAC		integrin beta 4 isoform 1 precursor							44.0	37.0	39.0					17																	73738804		2202	4299	6501	SO:0001583	missense	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73738804G>A		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.2924G>A	17.37:g.73738804G>A	ENSP00000200181:p.Gly975Asp					ITGB4_uc002jph.2_Missense_Mutation_p.G975D|ITGB4_uc002jpi.3_Missense_Mutation_p.G975D|ITGB4_uc010dgp.1_3'UTR|ITGB4_uc002jpj.2_Missense_Mutation_p.G975D	p.G975D	NM_000213	NP_000204	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		25	3111	+	all_cancers(13;1.5e-07)		975			Cytoplasmic (Potential).		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	c.2924G>A	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.414919	0.42817	.	.	ENSG00000132470	ENST00000200181;ENST00000339591;ENST00000449880	T;T;T	0.79940	-1.32;-1.32;-1.32	5.34	5.34	0.76211	.	0.064498	0.64402	D	0.000008	D	0.84763	0.5544	L	0.29908	0.895	0.54753	D	0.999987	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.75020	0.985;0.953;0.965	D	0.85349	0.1100	10	0.49607	T	0.09	.	19.1087	0.93309	0.0:0.0:1.0:0.0	.	975;975;975	P16144-3;A0AVL6;P16144	.;.;ITB4_HUMAN	D	975	ENSP00000200181:G975D;ENSP00000344079:G975D;ENSP00000400217:G975D	ENSP00000200181:G975D	G	+	2	0	ITGB4	71250399	1.000000	0.71417	0.976000	0.42696	0.926000	0.56050	4.559000	0.60796	2.546000	0.85860	0.556000	0.70494	GGC		0.657	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			5	52	0	0	0	0	5	52				
TNRC6C	57690	broad.mit.edu	37	17	76046980	76046980	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:76046980A>G	ENST00000588061.1	+	5	2564	c.1837A>G	c.(1837-1839)Aaa>Gaa	p.K613E	TNRC6C_ENST00000588847.1_Missense_Mutation_p.K613E|TNRC6C_ENST00000335749.4_Missense_Mutation_p.K613E|TNRC6C_ENST00000544502.1_Missense_Mutation_p.K613E|TNRC6C_ENST00000301624.4_Missense_Mutation_p.K613E|TNRC6C_ENST00000541771.1_Missense_Mutation_p.K613E			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	613	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GGGGGATGGGAAAAAAAATGG	0.522																																						uc002jud.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1837-1839)AAA>GAA		trinucleotide repeat containing 6C isoform 2							77.0	78.0	78.0					17																	76046980		1966	4142	6108	SO:0001583	missense	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76046980A>G	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.1837A>G	17.37:g.76046980A>G	ENSP00000468647:p.Lys613Glu					TNRC6C_uc002juf.2_Missense_Mutation_p.K613E|TNRC6C_uc002jue.2_Missense_Mutation_p.K613E	p.K613E	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		4	2437	+			613			Sufficient for interaction with argonaute family proteins.		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	ENST00000588061.1	37	c.1837A>G	CCDS45798.1	.	.	.	.	.	.	.	.	.	.	A	15.89	2.966609	0.53507	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.15718	2.4;2.42;2.42;2.4	5.97	5.97	0.96955	.	0.046204	0.85682	D	0.000000	T	0.36138	0.0956	M	0.62723	1.935	0.53688	D	0.999977	P;D;D	0.76494	0.829;0.999;0.985	P;D;P	0.68353	0.595;0.957;0.612	T	0.09618	-1.0666	10	0.11794	T	0.64	-16.6361	16.4504	0.83984	1.0:0.0:0.0:0.0	.	613;613;613	G3XAB8;Q9HCJ0-2;Q9HCJ0	.;.;TNR6C_HUMAN	E	613	ENSP00000336783:K613E;ENSP00000301624:K613E;ENSP00000440310:K613E;ENSP00000442421:K613E	ENSP00000301624:K613E	K	+	1	0	TNRC6C	73558575	1.000000	0.71417	0.806000	0.32338	0.942000	0.58702	7.036000	0.76524	2.288000	0.76882	0.533000	0.62120	AAA		0.522	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		11	116	0	0	0	0	11	116				
GAA	2548	broad.mit.edu	37	17	78081373	78081373	+	Missense_Mutation	SNP	C	C	T	rs121907944		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:78081373C>T	ENST00000302262.3	+	4	929	c.710C>T	c.(709-711)gCg>gTg	p.A237V	GAA_ENST00000390015.3_Missense_Mutation_p.A237V	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	237			A -> V (in GSD2). {ECO:0000269|PubMed:15668445}.		cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	ACGACGGTGGCGCCCCTGTTC	0.662																																						uc002jxo.2		NA																	0				ovary(1)	1	GRCh37	CM050054	GAA	M	rs121907944	c.(709-711)GCG>GTG		acid alpha-glucosidase preproprotein	Acarbose(DB00284)						98.0	100.0	99.0					17																	78081373		2203	4300	6503	SO:0001583	missense	2548				cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity	g.chr17:78081373C>T		CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"""Pompe disease"", ""glycogen storage disease type II"""	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.710C>T	17.37:g.78081373C>T	ENSP00000305692:p.Ala237Val					GAA_uc002jxp.2_Missense_Mutation_p.A237V|GAA_uc002jxq.2_Missense_Mutation_p.A237V	p.A237V	NM_001079803	NP_001073271	P10253	LYAG_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		5	892	+	all_neural(118;0.117)		237		A -> V (in GSD2).			Q09GN4|Q14351|Q16302|Q8IWE7	Missense_Mutation	SNP	ENST00000302262.3	37	c.710C>T	CCDS32760.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.758787	0.69763	.	.	ENSG00000171298	ENST00000302262;ENST00000390015	D;D	0.81739	-1.53;-1.53	5.18	5.18	0.71444	Glycoside hydrolase-type carbohydrate-binding (1);	0.053402	0.85682	D	0.000000	D	0.85128	0.5626	M	0.78049	2.395	0.40691	A	0.982399	D	0.61697	0.99	P	0.50440	0.641	D	0.87543	0.2460	9	0.42905	T	0.14	-42.5824	16.4761	0.84132	0.0:1.0:0.0:0.0	.	237	P10253	LYAG_HUMAN	V	237	ENSP00000305692:A237V;ENSP00000374665:A237V	ENSP00000305692:A237V	A	+	2	0	GAA	75695968	1.000000	0.71417	0.985000	0.45067	0.165000	0.22458	5.893000	0.69798	2.424000	0.82194	0.655000	0.94253	GCG		0.662	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1			24	226	0	0	0	0	24	226				
LAMA1	284217	broad.mit.edu	37	18	6983142	6983142	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr18:6983142C>A	ENST00000389658.3	-	40	5845	c.5752G>T	c.(5752-5754)Gaa>Taa	p.E1918*		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1918	Domain II and I.				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)				CTGGCCAGTTCCTCCGATTCT	0.498																																						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.(5752-5754)GAA>TAA		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						110.0	102.0	105.0					18																	6983142		2203	4300	6503	SO:0001587	stop_gained	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.chr18:6983142C>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.5752G>T	18.37:g.6983142C>A	ENSP00000374309:p.Glu1918*					LAMA1_uc010wzj.1_Nonsense_Mutation_p.E1394*	p.E1918*	NM_005559	NP_005550	P25391	LAMA1_HUMAN			40	5846	-		Colorectal(10;0.172)	1918			Domain II and I.			Nonsense_Mutation	SNP	ENST00000389658.3	37	c.5752G>T	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	45	11.702966	0.99593	.	.	ENSG00000101680	ENST00000389658	.	.	.	5.87	-0.79	0.10932	.	1.881790	0.02233	N	0.065082	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	1.7149	0.02899	0.1249:0.2757:0.1302:0.4692	.	.	.	.	X	1918	.	ENSP00000374309:E1918X	E	-	1	0	LAMA1	6973142	0.005000	0.15991	0.001000	0.08648	0.220000	0.24768	1.327000	0.33746	-0.355000	0.08199	-0.312000	0.09012	GAA		0.498	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		15	106	1	0	6.32e-08	6.73e-08	15	106				
CEP192	55125	broad.mit.edu	37	18	13095576	13095576	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr18:13095576C>T	ENST00000325971.8	+	33	6134	c.4541C>T	c.(4540-4542)tCt>tTt	p.S1514F	CEP192_ENST00000506447.1_Missense_Mutation_p.S2110F|CEP192_ENST00000430049.2_Missense_Mutation_p.S1635F|CEP192_ENST00000540847.2_3'UTR			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1514					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CCTCAGGGTTCTCCTCTTCTC	0.507																																						uc010xac.1		NA																	0				ovary(4)|pancreas(1)	5						c.(6328-6330)TCT>TTT		centrosomal protein 192kDa							96.0	95.0	96.0					18																	13095576		2203	4300	6503	SO:0001583	missense	55125							g.chr18:13095576C>T	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.4541C>T	18.37:g.13095576C>T	ENSP00000317156:p.Ser1514Phe					CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.S1635F|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_Missense_Mutation_p.S532F|CEP192_uc002krw.2_Missense_Mutation_p.S259F|CEP192_uc002krx.2_Missense_Mutation_p.S114F|CEP192_uc002kry.2_RNA	p.S2110F	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN			35	6409	+			2110					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.6329C>T		.	.	.	.	.	.	.	.	.	.	C	25.8	4.672901	0.88445	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049;ENST00000540847	T;T;T	0.37058	1.22;1.22;1.22	5.91	5.91	0.95273	.	0.184523	0.51477	D	0.000089	T	0.55529	0.1926	M	0.61703	1.905	0.37173	D	0.903123	D;D;D;D	0.62365	0.986;0.991;0.986;0.958	P;P;P;P	0.61201	0.814;0.885;0.748;0.66	T	0.60860	-0.7179	10	0.62326	D	0.03	-14.0065	16.5218	0.84319	0.0:0.8695:0.1305:0.0	.	1635;2110;114;712	C9JT09;E9PF99;F5GZ47;Q9HCK3	.;.;.;.	F	2110;1514;1514;1635;114	ENSP00000427550:S2110F;ENSP00000317156:S1514F;ENSP00000389190:S1635F	ENSP00000317156:S1514F	S	+	2	0	CEP192	13085576	0.030000	0.19436	0.985000	0.45067	0.742000	0.42306	1.625000	0.37029	2.803000	0.96430	0.650000	0.86243	TCT		0.507	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		18	186	0	0	0	0	18	186				
MIB1	57534	broad.mit.edu	37	18	19418387	19418387	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr18:19418387G>T	ENST00000261537.6	+	13	2155	c.1891G>T	c.(1891-1893)Gat>Tat	p.D631Y	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	631					blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			GAAGAAAGATGATGGTTATAC	0.348																																						uc002ktq.2		NA																	0				ovary(4)	4						c.(1891-1893)GAT>TAT		mindbomb homolog 1							114.0	108.0	110.0					18																	19418387		2203	4300	6503	SO:0001583	missense	57534				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr18:19418387G>T	AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	21086	protein-coding gene	gene with protein product		608677	"""mindbomb homolog 1 (Drosophila)"""				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.1891G>T	18.37:g.19418387G>T	ENSP00000261537:p.Asp631Tyr					MIB1_uc002ktp.2_Missense_Mutation_p.D270Y	p.D631Y	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	STAD - Stomach adenocarcinoma(5;0.212)		13	1891	+			631			ANK 7.		B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Missense_Mutation	SNP	ENST00000261537.6	37	c.1891G>T	CCDS11871.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.938606	0.92526	.	.	ENSG00000101752	ENST00000261537	T	0.64803	-0.12	5.78	5.78	0.91487	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.72779	0.3503	L	0.35593	1.075	0.80722	D	1	D	0.67145	0.996	D	0.79108	0.992	T	0.73802	-0.3868	10	0.62326	D	0.03	-23.6289	19.9918	0.97368	0.0:0.0:1.0:0.0	.	631	Q86YT6	MIB1_HUMAN	Y	631	ENSP00000261537:D631Y	ENSP00000261537:D631Y	D	+	1	0	MIB1	17672385	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.728000	0.93425	0.585000	0.79938	GAT		0.348	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1	NM_020774		9	99	1	0	1.13e-05	1.18e-05	9	99				
NOL4	8715	broad.mit.edu	37	18	31538274	31538274	+	Missense_Mutation	SNP	C	C	T	rs137958344		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr18:31538274C>T	ENST00000261592.5	-	7	1462	c.1165G>A	c.(1165-1167)Gag>Aag	p.E389K	NOL4_ENST00000269185.4_Missense_Mutation_p.E275K|NOL4_ENST00000538587.1_Missense_Mutation_p.E315K|NOL4_ENST00000535384.1_Missense_Mutation_p.E104K|NOL4_ENST00000589544.1_Missense_Mutation_p.E389K|NOL4_ENST00000535475.1_Missense_Mutation_p.E234K	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	389						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TCATGGTCCTCGTGGTCATCT	0.498																																						uc010dmi.2		NA																	0				ovary(3)	3						c.(1165-1167)GAG>AAG		nucleolar protein 4		C	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	267.0	229.0	242.0		1165,943,1165,310,1165	5.4	1.0	18	dbSNP_134	242	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	NOL4	NM_001198546.1,NM_001198547.1,NM_001198548.1,NM_001198549.1,NM_003787.4	56,56,56,56,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign,benign	389/575,315/565,389/537,104/354,389/639	31538274	1,13005	2203	4300	6503	SO:0001583	missense	8715					nucleolus	RNA binding	g.chr18:31538274C>T	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.1165G>A	18.37:g.31538274C>T	ENSP00000261592:p.Glu389Lys					NOL4_uc010xbs.1_Missense_Mutation_p.E104K|NOL4_uc002kxr.3_Missense_Mutation_p.E225K|NOL4_uc010xbt.1_Missense_Mutation_p.E315K|NOL4_uc010dmh.2_Missense_Mutation_p.E315K|NOL4_uc010xbu.1_Missense_Mutation_p.E389K|NOL4_uc002kxt.3_Missense_Mutation_p.E389K|NOL4_uc010xbv.1_Missense_Mutation_p.E138K|NOL4_uc010xbw.1_Missense_Mutation_p.E275K	p.E389K	NM_003787	NP_003778	O94818	NOL4_HUMAN			7	1394	-			389					B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	ENST00000261592.5	37	c.1165G>A	CCDS11907.2	.	.	.	.	.	.	.	.	.	.	C	17.86	3.492070	0.64074	2.27E-4	0.0	ENSG00000101746	ENST00000261592;ENST00000269185;ENST00000399171;ENST00000535384;ENST00000535475;ENST00000538587	T;T	0.80033	-1.33;-1.33	5.39	5.39	0.77823	.	0.232383	0.36482	N	0.002569	T	0.65133	0.2662	N	0.08118	0	0.42832	D	0.994024	B;P;B;P;B;B;B;B	0.34815	0.238;0.47;0.283;0.47;0.197;0.098;0.087;0.098	B;B;B;B;B;B;B;B	0.24974	0.027;0.057;0.035;0.035;0.035;0.035;0.024;0.018	T	0.70828	-0.4766	10	0.72032	D	0.01	-4.9333	19.1443	0.93458	0.0:1.0:0.0:0.0	.	275;138;104;315;389;104;389;234	B4DLW2;F8W825;B7Z3Z7;B4DSQ0;O94818;F5H1E3;O94818-2;B3KRF4	.;.;.;.;NOL4_HUMAN;.;.;.	K	389;275;138;104;234;315	ENSP00000445733:E104K;ENSP00000443472:E315K	ENSP00000261592:E389K	E	-	1	0	NOL4	29792272	1.000000	0.71417	0.971000	0.41717	0.960000	0.62799	7.484000	0.81180	2.501000	0.84356	0.557000	0.71058	GAG		0.498	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		29	329	0	0	0	0	29	329				
GALNT1	2589	broad.mit.edu	37	18	33269223	33269223	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr18:33269223G>A	ENST00000269195.5	+	6	1050	c.947G>A	c.(946-948)tGg>tAg	p.W316*	GALNT1_ENST00000537549.1_Nonsense_Mutation_p.W256*	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1	316	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						ATGGATATTTGGGGAGGAGAA	0.333																																						uc010dmu.2		NA																	0				ovary(2)	2						c.(946-948)TGG>TAG		polypeptide N-acetylgalactosaminyltransferase 1							81.0	82.0	82.0					18																	33269223		2203	4300	6503	SO:0001587	stop_gained	2589				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr18:33269223G>A		CCDS11915.1	18q12.1	2014-03-13	2014-03-13		ENSG00000141429	ENSG00000141429	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4123	protein-coding gene	gene with protein product	"""protein-UDP acetylgalactosaminyltransferase 1"", ""polypeptide GalNAc transferase 1"""	602273	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)"""			7592619, 12199709	Standard	NM_020474		Approved	GalNAc-T1	uc002kzb.3	Q10472	OTTHUMG00000132567	ENST00000269195.5:c.947G>A	18.37:g.33269223G>A	ENSP00000269195:p.Trp316*					GALNT1_uc002kyz.3_Nonsense_Mutation_p.W256*|GALNT1_uc002kzb.2_Nonsense_Mutation_p.W316*	p.W316*	NM_020474	NP_065207	Q10472	GALT1_HUMAN			7	1000	+			316			Lumenal (Potential).|Catalytic subdomain B.		Q86TJ7|Q9UM86	Nonsense_Mutation	SNP	ENST00000269195.5	37	c.947G>A	CCDS11915.1	.	.	.	.	.	.	.	.	.	.	G	39	7.773962	0.98483	.	.	ENSG00000141429	ENST00000537748;ENST00000269195;ENST00000537549	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.3745	0.87387	0.0:0.0:1.0:0.0	.	.	.	.	X	316;316;256	.	ENSP00000269195:W316X	W	+	2	0	GALNT1	31523221	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.692000	0.91855	0.591000	0.81541	TGG		0.333	GALNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255771.2	NM_020474		16	143	0	0	0	0	16	143				
PSTPIP2	9050	broad.mit.edu	37	18	43573663	43573663	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr18:43573663C>G	ENST00000409746.5	-	10	720	c.649G>C	c.(649-651)Gag>Cag	p.E217Q	PSTPIP2_ENST00000589328.1_Missense_Mutation_p.E217Q|PSTPIP2_ENST00000588801.1_Intron	NM_024430.3	NP_077748.3	Q9H939	PPIP2_HUMAN	proline-serine-threonine phosphatase interacting protein 2	217						cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						TCTTGAGCCTCAAATGCCTAC	0.398																																						uc002lbp.3		NA																	0				ovary(1)	1						c.(649-651)GAG>CAG		proline-serine-threonine phosphatase interacting							123.0	98.0	106.0					18																	43573663		2203	4300	6503	SO:0001583	missense	9050					membrane		g.chr18:43573663C>G		CCDS32820.2	18q12	2008-07-28			ENSG00000152229	ENSG00000152229			9581	protein-coding gene	gene with protein product						9804817	Standard	NM_024430		Approved		uc002lbp.4	Q9H939	OTTHUMG00000152674	ENST00000409746.5:c.649G>C	18.37:g.43573663C>G	ENSP00000387261:p.Glu217Gln					PSTPIP2_uc002lbq.3_Missense_Mutation_p.E217Q	p.E217Q	NM_024430	NP_077748	Q9H939	PPIP2_HUMAN			10	745	-			217						Missense_Mutation	SNP	ENST00000409746.5	37	c.649G>C	CCDS32820.2	.	.	.	.	.	.	.	.	.	.	C	9.870	1.198709	0.22121	.	.	ENSG00000152229	ENST00000409746;ENST00000360076	T	0.28666	1.6	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.38453	0.1041	N	0.25890	0.77	0.37530	D	0.917874	D;D	0.89917	1.0;0.999	D;D	0.74674	0.984;0.94	T	0.07404	-1.0774	10	0.02654	T	1	.	17.9744	0.89122	0.0:1.0:0.0:0.0	.	217;217	Q9H939-2;Q9H939	.;PPIP2_HUMAN	Q	217	ENSP00000387261:E217Q	ENSP00000353189:E217Q	E	-	1	0	PSTPIP2	41827661	1.000000	0.71417	0.987000	0.45799	0.620000	0.37586	5.638000	0.67861	2.546000	0.85860	0.563000	0.77884	GAG		0.398	PSTPIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327522.1			9	54	0	0	0	0	9	54				
WDR7	23335	broad.mit.edu	37	18	54448880	54448880	+	Silent	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr18:54448880C>A	ENST00000254442.3	+	19	3394	c.3183C>A	c.(3181-3183)gtC>gtA	p.V1061V	WDR7_ENST00000357574.3_Silent_p.V1028V|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1061					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TAGACCACGTCATATCACGTA	0.453																																						uc002lgk.1		NA																	0				ovary(2)|skin(1)	3						c.(3181-3183)GTC>GTA		rabconnectin-3 beta isoform 1							92.0	78.0	83.0					18																	54448880		2203	4300	6503	SO:0001819	synonymous_variant	23335							g.chr18:54448880C>A	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.3183C>A	18.37:g.54448880C>A						WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Silent_p.V1028V	p.V1061V	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	19	3394	+			1061					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Silent	SNP	ENST00000254442.3	37	c.3183C>A	CCDS11962.1																																																																																				0.453	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			8	124	1	0	0.00307968	0.0031421	8	124				
NARS	4677	broad.mit.edu	37	18	55274847	55274847	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr18:55274847C>T	ENST00000256854.5	-	8	1085	c.630G>A	c.(628-630)ttG>ttA	p.L210L	NARS_ENST00000423481.2_Intron	NM_004539.3	NP_004530.1	O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase	210					asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1)	20		Colorectal(73;0.227)			L-Asparagine(DB00174)	CAGCAGGGGCCAACCCAATTA	0.478																																						uc002lgs.2		NA																	0					0						c.(628-630)TTG>TTA		asparaginyl-tRNA synthetase	L-Asparagine(DB00174)						57.0	55.0	56.0					18																	55274847		2203	4300	6503	SO:0001819	synonymous_variant	4677				asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding	g.chr18:55274847C>T	D84273	CCDS32837.1	18q21.31	2014-05-06			ENSG00000134440	ENSG00000134440	6.1.1.22	"""Aminoacyl tRNA synthetases / Class II"""	7643	protein-coding gene	gene with protein product	"""asparagine tRNA ligase 1, cytoplasmic"""	108410				6836455, 9421509	Standard	NM_004539		Approved	NARS1	uc002lgs.2	O43776	OTTHUMG00000180125	ENST00000256854.5:c.630G>A	18.37:g.55274847C>T						NARS_uc002lgt.2_Silent_p.L209L|NARS_uc010xea.1_Intron|NARS_uc010xeb.1_RNA|NARS_uc010xec.1_Silent_p.L210L|NARS_uc010xed.1_Silent_p.L177L	p.L210L	NM_004539	NP_004530	O43776	SYNC_HUMAN			8	858	-		Colorectal(73;0.227)	210					B4DG16|Q53GU6	Silent	SNP	ENST00000256854.5	37	c.630G>A	CCDS32837.1																																																																																				0.478	NARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449872.2	NM_004539		8	64	0	0	0	0	8	64				
SOCS6	9306	broad.mit.edu	37	18	67993105	67993105	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr18:67993105G>A	ENST00000397942.3	+	2	1517	c.1201G>A	c.(1201-1203)Gtg>Atg	p.V401M	SOCS6_ENST00000582322.1_Missense_Mutation_p.V401M	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	401	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				defense response (GO:0006952)|JAK-STAT cascade (GO:0007259)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell activation (GO:0050868)|proteasomal protein catabolic process (GO:0010498)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|immunological synapse (GO:0001772)				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				GCTAGCAAACGTGCCAGATGG	0.473																																					Melanoma(84;1024 1361 24382 36583 42651)	uc002lkr.1		NA																	0				large_intestine(1)|lung(1)	2						c.(1201-1203)GTG>ATG		suppressor of cytokine signaling 6							179.0	166.0	170.0					18																	67993105		2203	4300	6503	SO:0001583	missense	9306				defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm		g.chr18:67993105G>A	AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16833	protein-coding gene	gene with protein product		605118	"""suppressor of cytokine signaling 4"""	SOCS4		9344848, 11042152	Standard	NM_004232		Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.1201G>A	18.37:g.67993105G>A	ENSP00000381034:p.Val401Met					SOCS6_uc010dqq.2_Missense_Mutation_p.V401M	p.V401M	NM_004232	NP_004223	O14544	SOCS6_HUMAN			2	1517	+		Esophageal squamous(42;0.129)|Colorectal(73;0.152)	401			SH2.		Q8WUM3	Missense_Mutation	SNP	ENST00000397942.3	37	c.1201G>A	CCDS11998.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.799955	0.31869	.	.	ENSG00000170677	ENST00000397942	D	0.88354	-2.37	5.7	5.7	0.88788	SH2 motif (4);	0.075485	0.52532	D	0.000075	T	0.81833	0.4906	N	0.12611	0.24	0.52501	D	0.999958	B	0.15141	0.012	B	0.15052	0.012	T	0.74890	-0.3510	10	0.37606	T	0.19	-14.1294	19.8418	0.96692	0.0:0.0:1.0:0.0	.	401	O14544	SOCS6_HUMAN	M	401	ENSP00000381034:V401M	ENSP00000381034:V401M	V	+	1	0	SOCS6	66144085	1.000000	0.71417	0.957000	0.39632	0.876000	0.50452	3.794000	0.55492	2.685000	0.91497	0.561000	0.74099	GTG		0.473	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256270.2			15	137	0	0	0	0	15	137				
NFATC1	4772	broad.mit.edu	37	18	77170881	77170881	+	Silent	SNP	G	G	A	rs146509068		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr18:77170881G>A	ENST00000427363.2	+	2	606	c.606G>A	c.(604-606)acG>acA	p.T202T	NFATC1_ENST00000586434.1_Silent_p.T189T|NFATC1_ENST00000587635.1_Silent_p.T202T|NFATC1_ENST00000592223.1_Silent_p.T189T|NFATC1_ENST00000591814.1_Silent_p.T202T|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000318065.5_Silent_p.T189T|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000329101.4_Silent_p.T189T|NFATC1_ENST00000253506.5_Silent_p.T202T|NFATC1_ENST00000542384.1_Silent_p.T202T			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	202	Trans-activation domain A (TAD-A).				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	CCCCCCAGACGTCGCCATGGC	0.697																																					GBM(151;1210 2593 28719 45011)	uc010xfg.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(604-606)ACG>ACA		nuclear factor of activated T-cells, cytosolic		G	,,,,	0,4406		0,0,2203	66.0	70.0	69.0		606,567,,567,606	-1.9	1.0	18	dbSNP_134	69	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous,intron,coding-synonymous,coding-synonymous	NFATC1	NM_006162.3,NM_172387.1,NM_172388.1,NM_172389.1,NM_172390.1	,,,,	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	,,,,	202/826,189/931,,189/813,202/717	77170881	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	4772				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr18:77170881G>A	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"""Nuclear factor of activated T-cells"""	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.606G>A	18.37:g.77170881G>A						NFATC1_uc002lnc.1_Silent_p.T202T|NFATC1_uc010xff.1_Silent_p.T202T|NFATC1_uc002lnd.2_Silent_p.T202T|NFATC1_uc002lne.2_Intron|NFATC1_uc010xfh.1_Silent_p.T202T|NFATC1_uc010xfi.1_Silent_p.T189T|NFATC1_uc010xfj.1_Intron|NFATC1_uc002lnf.2_Silent_p.T189T|NFATC1_uc002lng.2_Silent_p.T189T|NFATC1_uc010xfk.1_Silent_p.T189T	p.T202T	NM_006162	NP_006153	O95644	NFAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	2	1059	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	202			Trans-activation domain A (TAD-A).		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Silent	SNP	ENST00000427363.2	37	c.606G>A																																																																																					0.697	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		16	168	0	0	0	0	16	168				
KCNG2	26251	broad.mit.edu	37	18	77624217	77624217	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr18:77624217G>A	ENST00000316249.3	+	1	550	c.550G>A	c.(550-552)Gtg>Atg	p.V184M		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	184					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CTGCGTGTCCGTGTCCTTCGT	0.766																																						uc010xfl.1		NA																	0					0						c.(550-552)GTG>ATG		potassium voltage-gated channel, subfamily G,							17.0	16.0	16.0					18																	77624217		1966	3932	5898	SO:0001583	missense	26251				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr18:77624217G>A	AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.550G>A	18.37:g.77624217G>A	ENSP00000315654:p.Val184Met						p.V184M	NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)	1	550	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	184			Helical; Name=Segment S1; (Potential).			Missense_Mutation	SNP	ENST00000316249.3	37	c.550G>A	CCDS12019.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.670119	0.67814	.	.	ENSG00000178342	ENST00000316249	D	0.97598	-4.45	4.13	3.25	0.37280	.	0.347913	0.25720	N	0.028751	D	0.97739	0.9258	M	0.77712	2.385	0.40679	D	0.982287	D	0.89917	1.0	D	0.69654	0.965	D	0.97386	0.9986	10	0.72032	D	0.01	.	8.7541	0.34635	0.2046:0.0:0.7954:0.0	.	184	Q9UJ96	KCNG2_HUMAN	M	184	ENSP00000315654:V184M	ENSP00000315654:V184M	V	+	1	0	KCNG2	75725205	0.999000	0.42202	0.416000	0.26546	0.951000	0.60555	3.063000	0.49978	0.730000	0.32425	0.484000	0.47621	GTG		0.766	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	NM_012283		3	20	0	0	0	0	3	20				
THEG	51298	broad.mit.edu	37	19	375832	375832	+	Missense_Mutation	SNP	G	G	A	rs151319374		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:375832G>A	ENST00000342640.4	-	1	181	c.139C>T	c.(139-141)Cgc>Tgc	p.R47C	THEG_ENST00000346878.2_Missense_Mutation_p.R47C	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	47					cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTCCTGGCGTTCGGGGTCT	0.677													G|||	1	0.000199681	0.0	0.0014	5008	,	,		13504	0.0		0.0	False		,,,				2504	0.0					uc002lol.2		NA																	0				ovary(1)	1						c.(139-141)CGC>TGC		Theg homolog isoform 1		G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	45.0	52.0	49.0		139,139	-0.9	0.0	19	dbSNP_134	49	0,8600		0,0,4300	yes	missense,missense	THEG	NM_016585.3,NM_199202.1	180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	47/380,47/356	375832	1,13005	2203	4300	6503	SO:0001583	missense	51298				cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	g.chr19:375832G>A	AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549			13706	protein-coding gene	gene with protein product	"""cancer/testis antigen 56"""	609503	"""Theg homolog (mouse)"""			11173852	Standard	NM_016585		Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.139C>T	19.37:g.375832G>A	ENSP00000340088:p.Arg47Cys					THEG_uc002lom.2_Missense_Mutation_p.R47C	p.R47C	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	1	178	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	47					A6NMJ8	Missense_Mutation	SNP	ENST00000342640.4	37	c.139C>T	CCDS12025.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	5.201	0.222676	0.09863	2.27E-4	0.0	ENSG00000105549	ENST00000342640;ENST00000346878	T;T	0.18810	2.2;2.19	1.78	-0.886	0.10590	.	6.096430	0.00166	N	0.000005	T	0.08492	0.0211	N	0.08118	0	0.09310	N	1	B;P	0.38048	0.0;0.616	B;B	0.30855	0.0;0.121	T	0.07214	-1.0784	10	0.39692	T	0.17	.	0.086	0.00036	0.3249:0.2434:0.1901:0.2417	.	47;47	Q9P2T0-2;Q9P2T0	.;THEG_HUMAN	C	47	ENSP00000340088:R47C;ENSP00000264820:R47C	ENSP00000340088:R47C	R	-	1	0	THEG	326832	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.039000	0.03550	-0.286000	0.09076	-0.339000	0.08088	CGC		0.677	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384431.2			13	105	0	0	0	0	13	105				
C19orf10	56005	broad.mit.edu	37	19	4660713	4660713	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:4660713G>A	ENST00000262947.3	-	4	372	c.337C>T	c.(337-339)Cgg>Tgg	p.R113W	C19orf10_ENST00000599630.1_Missense_Mutation_p.R113W	NM_019107.3	NP_061980.1	Q969H8	CS010_HUMAN	chromosome 19 open reading frame 10	113					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.015)		TCAGCGCCCCGCACCTCTGCC	0.627																																						uc002may.2		NA																	0					0						c.(337-339)CGG>TGG		hypothetical protein LOC56005 precursor							113.0	99.0	104.0					19																	4660713		2203	4300	6503	SO:0001583	missense	56005					ER-Golgi intermediate compartment|extracellular region		g.chr19:4660713G>A	AF282264	CCDS12133.1	19p13.3	2013-11-27	2003-06-25	2003-06-27	ENSG00000074842	ENSG00000074842			16948	protein-coding gene	gene with protein product		606746	"""interleukin 27 working designation"""	IL27, IL27w		17362502, 21128247	Standard	NM_019107		Approved	R33729_1, IL25, SF20, IL-25, IL-27	uc002may.3	Q969H8		ENST00000262947.3:c.337C>T	19.37:g.4660713G>A	ENSP00000262947:p.Arg113Trp						p.R113W	NM_019107	NP_061980	Q969H8	CS010_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.015)	4	406	-		Hepatocellular(1079;0.137)	113					D6W628|O75256|O75272|Q9BTK7|Q9NP69	Missense_Mutation	SNP	ENST00000262947.3	37	c.337C>T	CCDS12133.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.973918	0.34848	.	.	ENSG00000074842	ENST00000262947	T	0.45668	0.89	3.87	3.87	0.44632	.	0.309398	0.29253	N	0.012700	T	0.40196	0.1107	L	0.34521	1.04	0.31969	N	0.607468	D	0.61697	0.99	P	0.51895	0.683	T	0.52260	-0.8599	10	0.72032	D	0.01	-5.9461	9.3945	0.38394	0.0:0.0:0.7697:0.2303	.	113	Q969H8	CS010_HUMAN	W	113	ENSP00000262947:R113W	ENSP00000262947:R113W	R	-	1	2	C19orf10	4611713	1.000000	0.71417	0.542000	0.28115	0.022000	0.10575	5.016000	0.64041	1.888000	0.54679	0.561000	0.74099	CGG		0.627	C19orf10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458937.1	NM_019107		8	103	0	0	0	0	8	103				
C3	718	broad.mit.edu	37	19	6713251	6713251	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:6713251C>T	ENST00000245907.6	-	9	1044	c.952G>A	c.(952-954)Gac>Aac	p.D318N		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	318					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CCCACCAGGTCTTCTGCTCGG	0.617																																						uc002mfm.2		NA																	0				skin(3)|ovary(1)|pancreas(1)	5						c.(952-954)GAC>AAC		complement component 3 precursor							56.0	50.0	52.0					19																	6713251		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6713251C>T	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.952G>A	19.37:g.6713251C>T	ENSP00000245907:p.Asp318Asn						p.D318N	NM_000064	NP_000055	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	9	1014	-			318					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.952G>A	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.507451	0.27036	.	.	ENSG00000125730	ENST00000245907	T	0.35048	1.33	5.04	3.94	0.45596	.	0.743675	0.12509	N	0.462588	T	0.28200	0.0696	L	0.49350	1.555	0.09310	N	0.999991	B	0.33512	0.415	B	0.28709	0.093	T	0.09662	-1.0664	10	0.32370	T	0.25	.	6.9463	0.24520	0.0:0.76:0.0:0.24	.	318	P01024	CO3_HUMAN	N	318	ENSP00000245907:D318N	ENSP00000245907:D318N	D	-	1	0	C3	6664251	0.943000	0.32029	0.881000	0.34555	0.281000	0.26958	2.360000	0.44151	2.352000	0.79861	0.484000	0.47621	GAC		0.617	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		6	70	0	0	0	0	6	70				
FBN3	84467	broad.mit.edu	37	19	8181655	8181655	+	Silent	SNP	G	G	A	rs138173924		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:8181655G>A	ENST00000600128.1	-	29	4029	c.3615C>T	c.(3613-3615)cgC>cgT	p.R1205R	FBN3_ENST00000270509.2_Silent_p.R1205R|FBN3_ENST00000601739.1_Silent_p.R1205R			Q75N90	FBN3_HUMAN	fibrillin 3	1205	EGF-like 17. {ECO:0000255|PROSITE- ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGTCACAAACGCGGGGGTTCT	0.592													g|||	1	0.000199681	0.0008	0.0	5008	,	,		17503	0.0		0.0	False		,,,				2504	0.0					uc002mjf.2		NA																	0				ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						c.(3613-3615)CGC>CGT		fibrillin 3 precursor							98.0	82.0	87.0					19																	8181655		2203	4300	6503	SO:0001819	synonymous_variant	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8181655G>A		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.3615C>T	19.37:g.8181655G>A							p.R1205R	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			28	3636	-			1205			EGF-like 17.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	c.3615C>T	CCDS12196.1																																																																																				0.592	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		12	118	0	0	0	0	12	118				
MUC16	94025	broad.mit.edu	37	19	8974003	8974003	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:8974003T>C	ENST00000397910.4	-	76	42871	c.42668A>G	c.(42667-42669)tAc>tGc	p.Y14223C	MUC16_ENST00000380951.5_Missense_Mutation_p.Y864C|MUC16_ENST00000596956.1_5'UTR	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14286				Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGGGTGATGTACTCTGAGGA	0.517																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(42667-42669)TAC>TGC		mucin 16							115.0	118.0	117.0					19																	8974003		1985	4164	6149	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8974003T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.42668A>G	19.37:g.8974003T>C	ENSP00000381008:p.Tyr14223Cys					MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.Y1023C|MUC16_uc010xki.1_Intron	p.Y14223C	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			76	42872	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.42668A>G	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.15|12.15	1.851189|1.851189	0.32699|0.32699	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000380951	.|T;T	.|0.51071	.|0.72;0.72	4.57|4.57	2.36|2.36	0.29203|0.29203	.|SEA (1);	.|0.277119	.|0.19431	.|N	.|0.114451	T|T	0.66376|0.66376	0.2783|0.2783	M|M	0.87269|0.87269	2.87|2.87	.|.	.|.	.|.	.|D;D	.|0.76494	.|0.999;0.995	.|D;D	.|0.76575	.|0.923;0.988	T|T	0.70630|0.70630	-0.4819|-0.4819	4|9	.|0.62326	.|D	.|0.03	.|.	5.1047|5.1047	0.14777|0.14777	0.1823:0.0:0.1901:0.6277|0.1823:0.0:0.1901:0.6277	.|.	.|21868;14223	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	A|C	1046|14223;864	.|ENSP00000381008:Y14223C;ENSP00000370338:Y864C	.|ENSP00000370338:Y864C	T|Y	-|-	1|2	0|0	MUC16|MUC16	8835003|8835003	0.250000|0.250000	0.23951|0.23951	0.007000|0.007000	0.13788|0.13788	0.002000|0.002000	0.02628|0.02628	0.791000|0.791000	0.26915|0.26915	0.311000|0.311000	0.23014|0.23014	-0.385000|-0.385000	0.06624|0.06624	ACA|TAC		0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		2	8	0	0	0	0	2	8				
ZNF266	10781	broad.mit.edu	37	19	9524481	9524481	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:9524481G>C	ENST00000592904.1	-	5	3196	c.1120C>G	c.(1120-1122)Cac>Gac	p.H374D	ZNF266_ENST00000588933.1_Missense_Mutation_p.H374D|ZNF266_ENST00000592292.1_Missense_Mutation_p.H374D|ZNF266_ENST00000590306.1_Missense_Mutation_p.H374D|ZNF266_ENST00000361151.1_Missense_Mutation_p.H374D|ZNF266_ENST00000588221.1_Missense_Mutation_p.H374D|ZNF266_ENST00000361451.2_Missense_Mutation_p.H374D			Q14584	ZN266_HUMAN	zinc finger protein 266	374					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						TCTCCACTGTGAGTTCGTGCA	0.448																																						uc002mll.2		NA																	0				ovary(1)	1						c.(1120-1122)CAC>GAC		zinc finger protein 266							73.0	75.0	74.0					19																	9524481		2203	4300	6503	SO:0001583	missense	10781				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9524481G>C	X78924	CCDS12213.1	19p13.2	2013-01-08				ENSG00000174652		"""Zinc fingers, C2H2-type"""	13059	protein-coding gene	gene with protein product		604751				7865130	Standard	NM_006631		Approved	HZF1	uc002mlo.4	Q14584		ENST00000592904.1:c.1120C>G	19.37:g.9524481G>C	ENSP00000466714:p.His374Asp					ZNF266_uc002mlm.2_Missense_Mutation_p.H374D|ZNF266_uc002mln.2_Missense_Mutation_p.H374D|ZNF266_uc002mlo.2_Missense_Mutation_p.H374D|ZNF266_uc010dwp.2_Missense_Mutation_p.H374D|ZNF266_uc010dwq.2_Missense_Mutation_p.H374D	p.H374D	NM_198058	NP_932175	Q14584	ZN266_HUMAN			4	1386	-			374			C2H2-type 8.		A0AV90|A4FU85|Q6IQ07|Q6U8A5|Q8IVG3|Q8WVX1|Q96SX9	Missense_Mutation	SNP	ENST00000592904.1	37	c.1120C>G	CCDS12213.1	.	.	.	.	.	.	.	.	.	.	G	30	5.051365	0.93740	.	.	ENSG00000174652	ENST00000361451;ENST00000361151	T;T	0.67698	-0.28;-0.28	2.53	2.53	0.30540	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.85839	0.5790	H	0.96048	3.76	0.32478	N	0.541851	D	0.89917	1.0	D	0.91635	0.999	D	0.88303	0.2951	9	0.87932	D	0	.	11.1769	0.48606	0.0:0.0:1.0:0.0	.	374	Q14584	ZN266_HUMAN	D	374	ENSP00000354680:H374D;ENSP00000355047:H374D	ENSP00000355047:H374D	H	-	1	0	ZNF266	9385481	1.000000	0.71417	0.065000	0.19835	0.915000	0.54546	7.858000	0.86971	1.727000	0.51537	0.555000	0.69702	CAC		0.448	ZNF266-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449033.1			13	153	0	0	0	0	13	153				
DNM2	1785	broad.mit.edu	37	19	10893656	10893656	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:10893656C>T	ENST00000355667.6	+	6	789	c.709C>T	c.(709-711)Cgc>Tgc	p.R237C	DNM2_ENST00000314646.5_Missense_Mutation_p.R237C|DNM2_ENST00000389253.4_Missense_Mutation_p.R237C|MIR4748_ENST00000578076.1_RNA|DNM2_ENST00000359692.6_Missense_Mutation_p.R237C|DNM2_ENST00000585892.1_Missense_Mutation_p.R237C|DNM2_ENST00000408974.4_Missense_Mutation_p.R237C	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	237	Dynamin-type G.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CGTGGTGAACCGCAGCCAGAA	0.597			"""F, N, Splice, Mis, O"""		ETP ALL																																	uc002mps.1		NA		Rec	yes		19	19p13.2	1785		dynamin 2			L					0				central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6						c.(709-711)CGC>TGC		dynamin 2 isoform 2							89.0	64.0	72.0					19																	10893656		2203	4300	6503	SO:0001583	missense	1785				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	g.chr19:10893656C>T		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.709C>T	19.37:g.10893656C>T	ENSP00000347890:p.Arg237Cys					DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Missense_Mutation_p.R237C|DNM2_uc002mpv.1_Missense_Mutation_p.R237C|DNM2_uc002mpu.1_Missense_Mutation_p.R237C|DNM2_uc010dxl.1_Missense_Mutation_p.R237C|DNM2_uc002mpw.2_5'UTR	p.R237C	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		6	873	+			237					A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	ENST00000355667.6	37	c.709C>T	CCDS45968.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.428840	0.83667	.	.	ENSG00000079805	ENST00000389252;ENST00000408974;ENST00000355667;ENST00000359692;ENST00000389253;ENST00000314646	D;D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47;-2.47	5.41	5.41	0.78517	Dynamin, GTPase domain (1);Dynamin central domain (1);	0.000000	0.85682	D	0.000000	D	0.96346	0.8808	H	0.97758	4.07	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;0.999;0.997;1.0	D	0.97216	0.9874	10	0.87932	D	0	-1.7952	12.9998	0.58667	0.1617:0.8383:0.0:0.0	.	237;237;237;237	A8K1B6;P50570-2;P50570;E9PEQ4	.;.;DYN2_HUMAN;.	C	226;237;237;237;237;237	ENSP00000386192:R237C;ENSP00000347890:R237C;ENSP00000352721:R237C;ENSP00000373905:R237C;ENSP00000313164:R237C	ENSP00000313164:R237C	R	+	1	0	DNM2	10754656	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.592000	0.46171	2.537000	0.85549	0.563000	0.77884	CGC		0.597	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		9	94	0	0	0	0	9	94				
CARM1	10498	broad.mit.edu	37	19	11030598	11030598	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:11030598C>T	ENST00000327064.4	+	10	1342	c.1152C>T	c.(1150-1152)gtC>gtT	p.V384V	CARM1_ENST00000344150.4_Silent_p.V384V	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	384	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						CAGGGCTGGTCCACGGCCTGG	0.592																																						uc002mpz.2		NA																	0					0						c.(1150-1152)GTC>GTT		coactivator-associated arginine							83.0	76.0	79.0					19																	11030598		2203	4300	6503	SO:0001819	synonymous_variant	10498				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	g.chr19:11030598C>T	AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453		"""Protein arginine methyltransferases"""	23393	protein-coding gene	gene with protein product		603934				10381882, 11724789	Standard	NM_199141		Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.1152C>T	19.37:g.11030598C>T						CARM1_uc010dxn.2_RNA|CARM1_uc002mqa.2_Silent_p.V167V	p.V384V	NM_199141	NP_954592	Q86X55	CARM1_HUMAN			10	1278	+			384					A6NN38	Silent	SNP	ENST00000327064.4	37	c.1152C>T	CCDS12250.1																																																																																				0.592	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452625.1	XM_032719		4	53	0	0	0	0	4	53				
ZNF439	90594	broad.mit.edu	37	19	11978597	11978597	+	Missense_Mutation	SNP	G	G	C	rs569672688		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:11978597G>C	ENST00000304030.2	+	3	913	c.713G>C	c.(712-714)gGa>gCa	p.G238A	ZNF439_ENST00000455282.1_Missense_Mutation_p.G102A|ZNF439_ENST00000592534.1_Intron	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	238					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(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						ACTCACACTGGAGAGAAACCG	0.368													g|||	1	0.000199681	0.0	0.0	5008	,	,		22412	0.0		0.0	False		,,,				2504	0.001					uc002mss.2		NA																	0				skin(1)	1						c.(712-714)GGA>GCA		zinc finger protein 439							87.0	87.0	87.0					19																	11978597		2203	4300	6503	SO:0001583	missense	90594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11978597G>C	AL833935	CCDS12268.1	19p13.13	2013-01-08			ENSG00000171291	ENSG00000171291		"""Zinc fingers, C2H2-type"", ""-"""	20873	protein-coding gene	gene with protein product							Standard	NM_152262		Approved	DKFZp571K0837	uc002mss.3	Q8NDP4	OTTHUMG00000156527	ENST00000304030.2:c.713G>C	19.37:g.11978597G>C	ENSP00000305077:p.Gly238Ala					ZNF439_uc002msr.2_Missense_Mutation_p.G102A	p.G238A	NM_152262	NP_689475	Q8NDP4	ZN439_HUMAN			3	841	+			238					Q8IYZ7|Q96SU1	Missense_Mutation	SNP	ENST00000304030.2	37	c.713G>C	CCDS12268.1	.	.	.	.	.	.	.	.	.	.	g	13.46	2.243878	0.39697	.	.	ENSG00000171291	ENST00000455282;ENST00000304030	T;T	0.26373	1.74;1.74	0.575	0.575	0.17374	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30947	0.0781	M	0.83384	2.64	0.27290	N	0.957861	P	0.39480	0.675	B	0.41088	0.347	T	0.29579	-1.0007	9	0.66056	D	0.02	.	4.404	0.11400	0.2597:0.0:0.7403:0.0	.	238	Q8NDP4	ZN439_HUMAN	A	102;238	ENSP00000395632:G102A;ENSP00000305077:G238A	ENSP00000305077:G238A	G	+	2	0	ZNF439	11839597	0.016000	0.18221	0.054000	0.19295	0.355000	0.29361	0.200000	0.17257	0.577000	0.29470	0.194000	0.17425	GGA		0.368	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344513.1			15	187	0	0	0	0	15	187				
MAST1	22983	broad.mit.edu	37	19	12978714	12978714	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:12978714C>T	ENST00000251472.4	+	20	2528	c.2489C>T	c.(2488-2490)gCg>gTg	p.A830V		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TCCGACCCCGCGGGATCCCTG	0.711																																						uc002mvm.2		NA																	0				ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						c.(2488-2490)GCG>GTG		microtubule associated serine/threonine kinase							14.0	19.0	17.0					19																	12978714		2181	4266	6447	SO:0001583	missense	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12978714C>T	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.2489C>T	19.37:g.12978714C>T	ENSP00000251472:p.Ala830Val						p.A830V	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN			20	2617	+			830						Missense_Mutation	SNP	ENST00000251472.4	37	c.2489C>T	CCDS32921.1	.	.	.	.	.	.	.	.	.	.	C	7.487	0.649911	0.14516	.	.	ENSG00000105613	ENST00000251472	T	0.64260	-0.09	3.59	3.59	0.41128	.	0.604547	0.15299	N	0.269709	T	0.39937	0.1097	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18085	-1.0348	10	0.27785	T	0.31	-6.6359	11.4072	0.49904	0.0:1.0:0.0:0.0	.	830	Q9Y2H9	MAST1_HUMAN	V	830	ENSP00000251472:A830V	ENSP00000251472:A830V	A	+	2	0	MAST1	12839714	0.173000	0.23056	0.992000	0.48379	0.054000	0.15201	4.094000	0.57721	1.937000	0.56155	0.549000	0.68633	GCG		0.711	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		6	48	0	0	0	0	6	48				
BRD4	23476	broad.mit.edu	37	19	15374334	15374334	+	Missense_Mutation	SNP	C	C	T	rs201883209		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:15374334C>T	ENST00000263377.2	-	7	1459	c.1238G>A	c.(1237-1239)cGt>cAt	p.R413H	BRD4_ENST00000602230.1_5'UTR|BRD4_ENST00000360016.5_Missense_Mutation_p.R413H|BRD4_ENST00000371835.4_Missense_Mutation_p.R413H	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	413	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CTGAGCATCACGGTACTCACG	0.537			T	C15orf55	lethal midline carcinoma of young people																																	uc002nar.2		NA		Dom	yes		19	19p13.1	23476	T	bromodomain containing 4			E	NUT|C15orf55		lethal midline carcinoma of young people		0				ovary(2)	2						c.(1237-1239)CGT>CAT		bromodomain-containing protein 4 isoform long		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	140.0	105.0	117.0		1238,1238	4.6	1.0	19		117	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	BRD4	NM_014299.2,NM_058243.2	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	413/723,413/1363	15374334	1,13005	2203	4300	6503	SO:0001583	missense	23476				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	g.chr19:15374334C>T	Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.1238G>A	19.37:g.15374334C>T	ENSP00000263377:p.Arg413His					BRD4_uc002nas.2_Missense_Mutation_p.R413H|BRD4_uc002nat.3_Missense_Mutation_p.R413H|BRD4_uc002nau.3_Missense_Mutation_p.R413H	p.R413H	NM_058243	NP_490597	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		7	1460	-			413			Bromo 2.		O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	ENST00000263377.2	37	c.1238G>A	CCDS12328.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.141795	0.77775	0.0	1.16E-4	ENSG00000141867	ENST00000263377;ENST00000371835;ENST00000360016	T;T;T	0.31247	1.5;1.5;1.5	4.58	4.58	0.56647	Bromodomain (5);	0.000000	0.64402	D	0.000014	T	0.39306	0.1073	L	0.33710	1.025	0.43084	D	0.994745	D;P;D	0.71674	0.997;0.693;0.998	P;B;D	0.64687	0.83;0.061;0.928	T	0.18808	-1.0325	10	0.54805	T	0.06	-11.1247	10.264	0.43445	0.0:0.906:0.0:0.094	.	413;413;413	Q4G0X8;O60885-2;O60885	.;.;BRD4_HUMAN	H	413	ENSP00000263377:R413H;ENSP00000360901:R413H;ENSP00000353112:R413H	ENSP00000263377:R413H	R	-	2	0	BRD4	15235334	0.941000	0.31946	0.967000	0.41034	0.966000	0.64601	2.068000	0.41471	2.271000	0.75665	0.407000	0.27541	CGT		0.537	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		8	70	0	0	0	0	8	70				
PDCD2L	84306	broad.mit.edu	37	19	34912527	34912527	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:34912527C>T	ENST00000246535.3	+	6	948	c.901C>T	c.(901-903)Cag>Tag	p.Q301*	PDCD2L_ENST00000587065.2_5'UTR|RN7SL154P_ENST00000578043.1_RNA	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	301					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			ATTTGAGTTTCAGCTTATGCC	0.453																																						uc002nvj.2		NA																	0				ovary(1)	1						c.(901-903)CAG>TAG		programmed cell death 2-like							139.0	141.0	140.0					19																	34912527		2203	4300	6503	SO:0001587	stop_gained	84306					cytoplasm		g.chr19:34912527C>T	BC006146	CCDS12438.1	19q13.11	2008-02-05				ENSG00000126249			28194	protein-coding gene	gene with protein product		615661				16311922	Standard	NM_032346		Approved	MGC13096	uc002nvj.3	Q9BRP1		ENST00000246535.3:c.901C>T	19.37:g.34912527C>T	ENSP00000246535:p.Gln301*						p.Q301*	NM_032346	NP_115722	Q9BRP1	PDD2L_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.211)		6	934	+	Esophageal squamous(110;0.162)		301						Nonsense_Mutation	SNP	ENST00000246535.3	37	c.901C>T	CCDS12438.1	.	.	.	.	.	.	.	.	.	.	C	35	5.455799	0.96223	.	.	ENSG00000126249	ENST00000246535	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-17.5174	19.208	0.93742	0.0:1.0:0.0:0.0	.	.	.	.	X	301	.	ENSP00000246535:Q301X	Q	+	1	0	PDCD2L	39604367	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	5.732000	0.68563	2.843000	0.97960	0.585000	0.79938	CAG		0.453	PDCD2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459251.3	NM_032346		28	283	0	0	0	0	28	283				
TMEM147	10430	broad.mit.edu	37	19	36037660	36037660	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:36037660G>C	ENST00000222284.5	+	4	439	c.294G>C	c.(292-294)aaG>aaC	p.K98N	AD000090.2_ENST00000588286.1_RNA|AD000090.2_ENST00000589137.1_RNA|AD000090.2_ENST00000590717.1_RNA|TMEM147_ENST00000392205.1_Missense_Mutation_p.K98N|TMEM147_ENST00000392204.2_Missense_Mutation_p.K49N|AD000090.2_ENST00000444728.1_RNA	NM_032635.3	NP_116024.1	Q9BVK8	TM147_HUMAN	transmembrane protein 147	98						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GAGAGTACAAGATCATGGTTG	0.582																																						uc002oaj.1		NA																	0					0						c.(292-294)AAG>AAC		transmembrane protein 147							91.0	80.0	83.0					19																	36037660		2203	4300	6503	SO:0001583	missense	10430					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr19:36037660G>C	BC001118	CCDS12466.1, CCDS56091.1	19q13.12	2010-08-13			ENSG00000105677	ENSG00000105677			30414	protein-coding gene	gene with protein product		613585				20538592	Standard	NM_032635		Approved	NIFIE14, MGC1936	uc002oaj.2	Q9BVK8	OTTHUMG00000048105	ENST00000222284.5:c.294G>C	19.37:g.36037660G>C	ENSP00000222284:p.Lys98Asn					uc010eec.1_5'Flank|uc002oag.2_5'Flank|TMEM147_uc002oai.1_Missense_Mutation_p.K49N|TMEM147_uc002oak.1_Missense_Mutation_p.R8T	p.K98N	NM_032635	NP_116024	Q9BVK8	TM147_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		4	391	+	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		98					A8MWW0|O75790	Missense_Mutation	SNP	ENST00000222284.5	37	c.294G>C	CCDS12466.1	.	.	.	.	.	.	.	.	.	.	g	24.1	4.497781	0.85069	.	.	ENSG00000105677	ENST00000392204;ENST00000222284;ENST00000392205	T;T;T	0.51574	0.7;0.7;0.7	5.0	3.96	0.45880	.	0.000000	0.85682	D	0.000000	T	0.65322	0.2680	M	0.77486	2.375	0.58432	D	0.999999	D	0.76494	0.999	D	0.67900	0.954	T	0.67503	-0.5654	10	0.46703	T	0.11	-20.3304	11.6812	0.51458	0.0865:0.0:0.9135:0.0	.	98	Q9BVK8	TM147_HUMAN	N	49;98;98	ENSP00000376040:K49N;ENSP00000222284:K98N;ENSP00000376041:K98N	ENSP00000222284:K98N	K	+	3	2	TMEM147	40729500	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.602000	0.54066	1.471000	0.48121	0.651000	0.88453	AAG		0.582	TMEM147-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109469.2	NM_032635		6	105	0	0	0	0	6	105				
PSENEN	55851	broad.mit.edu	37	19	36237739	36237739	+	Silent	SNP	C	C	T	rs148274462		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:36237739C>T	ENST00000587708.2	+	4	980	c.297C>T	c.(295-297)ggC>ggT	p.G99G	PSENEN_ENST00000591949.1_3'UTR|U2AF1L4_ENST00000292879.5_5'Flank|AD000671.6_ENST00000589807.1_5'Flank|PSENEN_ENST00000222266.2_Silent_p.G99G|AC002398.11_ENST00000591091.1_RNA|LIN37_ENST00000301159.9_5'Flank|U2AF1L4_ENST00000412391.2_5'Flank|AC002398.9_ENST00000591613.2_Intron|U2AF1L4_ENST00000378975.3_5'Flank|AC002398.11_ENST00000585365.1_RNA|U2AF1L4_ENST00000588100.1_5'Flank			Q9NZ42	PEN2_HUMAN	presenilin enhancer gamma secretase subunit	99					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|prostate(1)	8	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TACCCCTGGGCACCCCCTGAC	0.592																																						uc002obi.1		NA																	0				ovary(2)	2						c.(295-297)GGC>GGT		presenilin enhancer 2		C		1,4405	2.1+/-5.4	0,1,2202	34.0	36.0	36.0		297	-8.5	0.7	19	dbSNP_134	36	0,8600		0,0,4300	no	coding-synonymous	PSENEN	NM_172341.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		99/102	36237739	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55851				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	aspartic-type endopeptidase activity|protein binding	g.chr19:36237739C>T	AF220053	CCDS12474.1	19q13.12	2014-09-17	2013-09-12			ENSG00000205155			30100	protein-coding gene	gene with protein product		607632	"""presenilin enhancer 2 homolog (C. elegans)"""			12110170, 12660785	Standard	NM_172341		Approved	PEN2	uc002obi.1	Q9NZ42		ENST00000587708.2:c.297C>T	19.37:g.36237739C>T						TMEM149_uc010eej.2_5'Flank|U2AF1L4_uc002obh.1_5'Flank|U2AF1L4_uc002obe.2_5'Flank|U2AF1L4_uc002obf.2_5'Flank|U2AF1L4_uc002obg.2_5'Flank|PSENEN_uc002obj.1_Silent_p.G99G|PSENEN_uc002obk.1_Intron|LIN37_uc002obm.2_5'Flank	p.G99G	NM_172341	NP_758844	Q9NZ42	PEN2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		4	501	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		99			Lumenal (Potential).		B2R5L9	Silent	SNP	ENST00000587708.2	37	c.297C>T	CCDS12474.1																																																																																				0.592	PSENEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459101.2	NM_172341		16	82	0	0	0	0	16	82				
SIPA1L3	23094	broad.mit.edu	37	19	38591746	38591746	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:38591746G>A	ENST00000222345.6	+	6	2418	c.1909G>A	c.(1909-1911)Gag>Aag	p.E637K		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	637	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCAGAGCTCCGAGGAGGAGAT	0.607																																						uc002ohk.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1909-1911)GAG>AAG		signal-induced proliferation-associated 1 like							42.0	42.0	42.0					19																	38591746		2203	4300	6503	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38591746G>A	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.1909G>A	19.37:g.38591746G>A	ENSP00000222345:p.Glu637Lys						p.E637K	NM_015073	NP_055888	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		6	2418	+			637			Rap-GAP.		Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.1909G>A	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	G	36	5.745822	0.96882	.	.	ENSG00000105738	ENST00000222345	D	0.95622	-3.76	5.11	5.11	0.69529	Rap/ran-GAP (1);	0.052515	0.85682	D	0.000000	D	0.98264	0.9425	H	0.95645	3.7	0.58432	D	0.999996	D	0.58970	0.984	P	0.61275	0.886	D	0.99133	1.0853	10	0.87932	D	0	-43.8647	17.8292	0.88676	0.0:0.0:1.0:0.0	.	637	O60292	SI1L3_HUMAN	K	637	ENSP00000222345:E637K	ENSP00000222345:E637K	E	+	1	0	SIPA1L3	43283586	1.000000	0.71417	0.990000	0.47175	0.924000	0.55760	9.169000	0.94788	2.816000	0.96949	0.561000	0.74099	GAG		0.607	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		5	37	0	0	0	0	5	37				
KCNK6	9424	broad.mit.edu	37	19	38817967	38817967	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:38817967T>C	ENST00000263372.3	+	3	973	c.866T>C	c.(865-867)aTc>aCc	p.I289T		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	289					negative regulation of systemic arterial blood pressure (GO:0003085)|potassium ion transport (GO:0006813)|regulation of resting membrane potential (GO:0060075)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	CGGGTGGACATCCTGGGCCCC	0.662																																						uc002oic.2		NA																	0				ovary(1)	1						c.(865-867)ATC>ACC		potassium channel, subfamily K, member 6	Ibutilide(DB00308)|Quinidine(DB00908)						61.0	59.0	60.0					19																	38817967		2203	4300	6503	SO:0001583	missense	9424					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr19:38817967T>C	AF117708	CCDS12513.1	19q13.1	2012-03-07				ENSG00000099337		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6281	protein-coding gene	gene with protein product		603939				10075682, 10393428, 16382106	Standard	NM_004823		Approved	K2p6.1, TWIK-2	uc002oic.3	Q9Y257		ENST00000263372.3:c.866T>C	19.37:g.38817967T>C	ENSP00000263372:p.Ile289Thr					KCNK6_uc002oid.2_Missense_Mutation_p.I155T	p.I289T	NM_004823	NP_004814	Q9Y257	KCNK6_HUMAN	Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		3	976	+	all_cancers(60;5.83e-07)		289			Cytoplasmic (Potential).		Q9HB47	Missense_Mutation	SNP	ENST00000263372.3	37	c.866T>C	CCDS12513.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.486970	0.84854	.	.	ENSG00000099337	ENST00000263372	T	0.25085	1.82	5.36	3.28	0.37604	.	0.445369	0.24873	N	0.034915	T	0.37785	0.1016	M	0.67953	2.075	0.09310	N	0.999997	D	0.58620	0.983	P	0.56127	0.792	T	0.15263	-1.0443	10	0.44086	T	0.13	.	8.1197	0.30963	0.0:0.1686:0.0:0.8314	.	289	Q9Y257	KCNK6_HUMAN	T	289	ENSP00000263372:I289T	ENSP00000263372:I289T	I	+	2	0	KCNK6	43509807	0.999000	0.42202	0.150000	0.22450	0.808000	0.45660	3.266000	0.51569	0.360000	0.24265	0.459000	0.35465	ATC		0.662	KCNK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460524.1	NM_004823		12	105	0	0	0	0	12	105				
PLEKHG2	64857	broad.mit.edu	37	19	39911453	39911453	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:39911453C>G	ENST00000409794.3	+	13	2210	c.1360C>G	c.(1360-1362)Cga>Gga	p.R454G	PLEKHG2_ENST00000425673.1_Missense_Mutation_p.R454G|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.R395G|PLEKHG2_ENST00000409797.2_Missense_Mutation_p.R454G|PLEKHG2_ENST00000378550.1_Missense_Mutation_p.R454G	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	454					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TCCTCGACCTCGAGATGCTAG	0.582																																						uc010xuz.1		NA																	0				skin(2)|pancreas(1)|breast(1)	4						c.(1360-1362)CGA>GGA		common-site lymphoma/leukemia guanine nucleotide							70.0	77.0	75.0					19																	39911453		2203	4300	6503	SO:0001583	missense	64857				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:39911453C>G	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.1360C>G	19.37:g.39911453C>G	ENSP00000386733:p.Arg454Gly					PLEKHG2_uc010xuy.1_Missense_Mutation_p.R395G|PLEKHG2_uc002olj.2_Missense_Mutation_p.R454G|PLEKHG2_uc010xva.1_Missense_Mutation_p.R261G	p.R454G	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		13	1685	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		454					B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	ENST00000409794.3	37	c.1360C>G	CCDS33022.2	.	.	.	.	.	.	.	.	.	.	C	15.26	2.779484	0.49891	.	.	ENSG00000090924	ENST00000409794;ENST00000425673;ENST00000378550;ENST00000458508;ENST00000409797	T;T;T;T;T	0.71698	-0.3;-0.22;-0.59;-0.43;-0.59	4.65	4.65	0.58169	.	0.302778	0.21315	N	0.076579	T	0.56514	0.1990	L	0.36672	1.1	0.32769	N	0.504078	B;P;B;B	0.39551	0.043;0.678;0.011;0.001	B;B;B;B	0.34180	0.034;0.177;0.014;0.004	T	0.63910	-0.6530	10	0.19590	T	0.45	.	12.9133	0.58192	0.0:1.0:0.0:0.0	.	454;454;395;454	Q9H7P9-3;Q9H7P9;E7ESZ3;Q9H7P9-2	.;PKHG2_HUMAN;.;.	G	454;454;454;395;454	ENSP00000386733:R454G;ENSP00000392906:R454G;ENSP00000367812:R454G;ENSP00000408857:R395G;ENSP00000386492:R454G	ENSP00000367812:R454G	R	+	1	2	PLEKHG2	44603293	0.055000	0.20627	1.000000	0.80357	0.993000	0.82548	2.134000	0.42102	2.415000	0.81967	0.655000	0.94253	CGA		0.582	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		23	204	0	0	0	0	23	204				
PRX	57716	broad.mit.edu	37	19	40901949	40901949	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:40901949C>A	ENST00000324001.7	-	7	2580	c.2310G>T	c.(2308-2310)aaG>aaT	p.K770N	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	770	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCTCTGGTGCCTTCGGAAGAT	0.592																																						uc002onr.2		NA																	0				ovary(2)	2						c.(2308-2310)AAG>AAT		periaxin isoform 2							104.0	97.0	100.0					19																	40901949		2203	4300	6503	SO:0001583	missense	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40901949C>A	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.2310G>T	19.37:g.40901949C>A	ENSP00000326018:p.Lys770Asn					PRX_uc002onq.2_Missense_Mutation_p.K631N|PRX_uc002ons.2_3'UTR	p.K770N	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	2579	-			770			55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].		Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	c.2310G>T	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.585329	0.28268	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.01113	5.32	4.83	3.77	0.43336	.	0.270250	0.26075	N	0.026495	T	0.02610	0.0079	L	0.51422	1.61	0.22066	N	0.99938	D	0.58268	0.982	P	0.56042	0.79	T	0.47812	-0.9088	10	0.23302	T	0.38	-17.7004	8.927	0.35646	0.0:0.8229:0.0:0.1771	.	770	Q9BXM0	PRAX_HUMAN	N	770	ENSP00000326018:K770N	ENSP00000326018:K770N	K	-	3	2	PRX	45593789	0.001000	0.12720	0.039000	0.18376	0.128000	0.20619	0.046000	0.14035	0.995000	0.38917	0.655000	0.94253	AAG		0.592	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		54	239	1	0	1.04e-30	1.16e-30	54	239				
CEACAM1	634	broad.mit.edu	37	19	43025447	43025447	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:43025447C>G	ENST00000161559.6	-	4	1064	c.930G>C	c.(928-930)agG>agC	p.R310S	CEACAM1_ENST00000358394.3_Missense_Mutation_p.R310S|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000403461.1_Missense_Mutation_p.R310S|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000352591.5_Missense_Mutation_p.R310S|CEACAM1_ENST00000403444.3_Missense_Mutation_p.R310S|CEACAM1_ENST00000351134.3_Intron|CEACAM1_ENST00000308072.4_Missense_Mutation_p.R270S|CEACAM1_ENST00000599389.1_Missense_Mutation_p.R310S	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	310	Ig-like C2-type 2.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|homophilic cell adhesion (GO:0007156)|integrin-mediated signaling pathway (GO:0007229)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	TGACTGTGGTCCTGTTGCAGC	0.448																																						uc002otv.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(928-930)AGG>AGC		carcinoembryonic antigen-related cell adhesion	Arcitumomab(DB00113)						206.0	186.0	193.0					19																	43025447		2203	4300	6503	SO:0001583	missense	634				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction		g.chr19:43025447C>G	M72238	CCDS12609.1, CCDS46089.1, CCDS54272.1, CCDS54273.1, CCDS54274.1	19q13.2	2014-05-16			ENSG00000079385	ENSG00000079385		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1814	protein-coding gene	gene with protein product		109770		BGP		2457922, 2025273	Standard	NM_001712		Approved	BGP1, CD66a	uc002otv.3	P13688	OTTHUMG00000151078	ENST00000161559.6:c.930G>C	19.37:g.43025447C>G	ENSP00000161559:p.Arg310Ser					uc010eif.1_Intron|uc002ott.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron|CEACAM1_uc010eii.2_RNA|CEACAM1_uc002otw.2_Missense_Mutation_p.R310S|CEACAM1_uc010eij.2_Missense_Mutation_p.R310S|CEACAM1_uc002otx.2_Missense_Mutation_p.R310S|CEACAM1_uc002oty.2_Missense_Mutation_p.R310S|CEACAM1_uc002otz.2_Missense_Mutation_p.R310S|CEACAM1_uc010eik.2_Intron|CEACAM1_uc002oua.2_Missense_Mutation_p.R310S|CEACAM1_uc002oub.2_Missense_Mutation_p.R310S|CEACAM1_uc002ouc.2_Missense_Mutation_p.R310S	p.R310S	NM_001712	NP_001703	P13688	CEAM1_HUMAN		GBM - Glioblastoma multiforme(486;0.00148)	4	1043	-		Prostate(69;0.00682)	310			Ig-like C2-type 2.|Extracellular (Potential).		A6NE38|A8MY49|O60430|Q069I7|Q13854|Q13857|Q13858|Q13859|Q13860|Q15600|Q15601|Q16170|Q5UB49|Q7KYP5|Q96CA7|Q9UQV9	Missense_Mutation	SNP	ENST00000161559.6	37	c.930G>C	CCDS12609.1	.	.	.	.	.	.	.	.	.	.	c	7.036	0.561648	0.13498	.	.	ENSG00000079385	ENST00000161559;ENST00000358394;ENST00000446434;ENST00000378065;ENST00000352591;ENST00000403444;ENST00000403461;ENST00000308072;ENST00000377806;ENST00000344391;ENST00000403136	T;T;T;T;T;T	0.13657	3.27;3.27;3.27;3.27;3.27;2.57	5.09	-9.17	0.00691	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.06600	0.0169	L	0.28740	0.885	0.09310	N	1	B;B;B;B;B;B;B;B;B	0.24483	0.091;0.018;0.013;0.047;0.013;0.018;0.073;0.038;0.104	B;B;B;B;B;B;B;B;B	0.34385	0.136;0.029;0.038;0.113;0.109;0.078;0.042;0.078;0.181	T	0.41928	-0.9481	9	0.02654	T	1	.	4.0637	0.09851	0.1044:0.142:0.4829:0.2707	.	310;310;310;310;310;310;310;310;310	P13688-10;P13688-3;P13688-4;P13688-2;P13688-11;P13688-6;P13688-5;P13688-8;P13688	.;.;.;.;.;.;.;.;CEAM1_HUMAN	S	310;310;337;270;310;310;310;270;310;310;310	ENSP00000161559:R310S;ENSP00000351165:R310S;ENSP00000244291:R310S;ENSP00000384709:R310S;ENSP00000384083:R310S;ENSP00000312184:R270S	ENSP00000161559:R310S	R	-	3	2	CEACAM1	47717287	0.000000	0.05858	0.000000	0.03702	0.160000	0.22226	-2.233000	0.01204	-1.103000	0.03019	0.555000	0.69702	AGG		0.448	CEACAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321190.2	NM_001712		13	238	0	0	0	0	13	238				
PSG2	5670	broad.mit.edu	37	19	43585208	43585208	+	Silent	SNP	G	G	A	rs148293206	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:43585208G>A	ENST00000406487.1	-	2	353	c.255C>T	c.(253-255)gaC>gaT	p.D85D	PSG2_ENST00000491995.1_5'Flank	NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	85	Ig-like V-type.				cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.D85D(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				TTATTTGACCGTCTACTACAT	0.443													G|||	5	0.000998403	0.0	0.0	5008	,	,		20886	0.002		0.003	False		,,,				2504	0.0					uc002ovi.2		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(1)|skin(1)	2						c.(253-255)GAC>GAT		SubName: Full=Putative uncharacterized protein PSG6;		G		0,4406		0,0,2203	199.0	202.0	201.0		255	-1.1	0.0	19	dbSNP_134	201	3,8593		0,3,4295	no	coding-synonymous	PSG2	NM_031246.3		0,3,6498	AA,AG,GG		0.0349,0.0,0.0231		85/336	43585208	3,12999	2203	4298	6501	SO:0001819	synonymous_variant	5675				female pregnancy	extracellular region		g.chr19:43585208G>A		CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9519	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta-1-glycoprotein 7"", ""carcinoembryonic antigen SG8"""	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.255C>T	19.37:g.43585208G>A						PSG6_uc010xwk.1_Intron|PSG2_uc002ovr.2_Silent_p.D85D|PSG2_uc002ovq.3_Silent_p.D85D|PSG2_uc010eiq.1_Silent_p.D85D|PSG2_uc002ovs.3_Silent_p.D85D|PSG2_uc002ovt.3_Silent_p.D85D	p.D85D			Q00889	PSG6_HUMAN			2	348	-		Prostate(69;0.00899)	85			Ig-like V-type.		Q8TCD9|Q9UEA4|Q9UQ78	Silent	SNP	ENST00000406487.1	37	c.255C>T	CCDS12616.1																																																																																				0.443	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1	NM_031246		29	532	0	0	0	0	29	532				
IRGQ	126298	broad.mit.edu	37	19	44099016	44099016	+	Missense_Mutation	SNP	C	C	T	rs372119753		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:44099016C>T	ENST00000602269.1	-	1	660	c.475G>A	c.(475-477)Gag>Aag	p.E159K	ZNF576_ENST00000528387.1_5'Flank|ZNF576_ENST00000525771.1_5'Flank|L34079.2_ENST00000594374.1_5'Flank|ZNF576_ENST00000391965.2_5'Flank|ZNF576_ENST00000533118.1_5'Flank|SRRM5_ENST00000526798.1_5'Flank|IRGQ_ENST00000601520.1_5'Flank|SRRM5_ENST00000607544.1_5'Flank|IRGQ_ENST00000422989.1_Missense_Mutation_p.E159K|ZNF576_ENST00000529930.1_5'Flank|ZNF576_ENST00000336564.4_5'Flank			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	159										endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				TCTAGCTCCTCGCAGCCGTCG	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		13524	0.0		0.0	False		,,,				2504	0.001					uc002oww.2		NA																	0				ovary(1)|pancreas(1)	2						c.(475-477)GAG>AAG		immunity-related GTPase family, Q		C	LYS/GLU	0,4406		0,0,2203	23.0	26.0	25.0		475	1.4	0.8	19		25	1,8599		0,1,4299	no	missense	IRGQ	NM_001007561.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	159/624	44099016	1,13005	2203	4300	6503	SO:0001583	missense	126298						protein binding	g.chr19:44099016C>T	AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"""immunity-related GTPase family, Q1"""	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.475G>A	19.37:g.44099016C>T	ENSP00000472250:p.Glu159Lys					IRGQ_uc010eiv.2_Missense_Mutation_p.E159K|ZNF576_uc002owy.2_5'Flank|ZNF576_uc002owz.2_5'Flank|SRRM5_uc002oxb.2_5'Flank	p.E159K	NM_001007561	NP_001007562	Q8WZA9	IRGQ_HUMAN			1	593	-		Prostate(69;0.0199)	159			Potential.		B2RNP3	Missense_Mutation	SNP	ENST00000602269.1	37	c.475G>A	CCDS33040.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.197754	0.38806	0.0	1.16E-4	ENSG00000167378	ENST00000422989	T	0.58210	0.35	4.65	1.42	0.22433	.	0.478112	0.18043	N	0.153556	T	0.29321	0.0730	N	0.14661	0.345	0.24214	N	0.995462	B	0.15719	0.014	B	0.09377	0.004	T	0.12116	-1.0560	10	0.32370	T	0.25	-8.5918	6.0177	0.19613	0.0:0.6828:0.0:0.3172	.	159	Q8WZA9	IRGQ_HUMAN	K	159	ENSP00000387535:E159K	ENSP00000387535:E159K	E	-	1	0	IRGQ	48790856	0.894000	0.30519	0.769000	0.31535	0.560000	0.35617	1.276000	0.33156	0.694000	0.31654	0.650000	0.86243	GAG		0.667	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463205.1	NM_001007561		7	33	0	0	0	0	7	33				
ZNF112	7771	broad.mit.edu	37	19	44832114	44832114	+	Silent	SNP	A	A	G	rs376999795		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:44832114A>G	ENST00000337401.4	-	5	2302	c.2214T>C	c.(2212-2214)ggT>ggC	p.G738G	ZNF112_ENST00000536500.1_Silent_p.G755G|ZNF112_ENST00000354340.4_Silent_p.G732G	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	738					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										CTCTCTGATGACCTTGAAGAT	0.458																																						uc010ejj.2		NA																	0				ovary(3)|skin(2)	5						c.(2212-2214)GGT>GGC		zinc finger protein 228 isoform 1							259.0	240.0	246.0					19																	44832114		2203	4300	6503	SO:0001819	synonymous_variant	7771				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44832114A>G	AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.2214T>C	19.37:g.44832114A>G						ZFP112_uc002ozc.3_Silent_p.G732G|ZFP112_uc010xwy.1_Silent_p.G755G|ZFP112_uc010xwz.1_Silent_p.G737G	p.G738G	NM_001083335	NP_001076804	Q9UJU3	ZF112_HUMAN			5	2327	-			738			C2H2-type 12.		A4FU53|Q9HCA7	Silent	SNP	ENST00000337401.4	37	c.2214T>C	CCDS54276.1																																																																																				0.458	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380		23	450	0	0	0	0	23	450				
PVR	5817	broad.mit.edu	37	19	45153219	45153219	+	Missense_Mutation	SNP	C	C	T	rs561763868		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:45153219C>T	ENST00000425690.3	+	3	865	c.566C>T	c.(565-567)aCg>aTg	p.T189M	PVR_ENST00000406449.4_Missense_Mutation_p.T189M|PVR_ENST00000403059.4_Missense_Mutation_p.T189M|PVR_ENST00000344956.4_Missense_Mutation_p.T189M|CTB-171A8.1_ENST00000590796.1_RNA	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	189	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|receptor activity (GO:0004872)	p.T189M(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		ATGCCCAATACGAGCCAGGTG	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		15615	0.0		0.0	False		,,,				2504	0.001					uc002ozm.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)		0						c.(565-567)ACG>ATG		poliovirus receptor isoform alpha							59.0	57.0	58.0					19																	45153219		2203	4300	6503	SO:0001583	missense	5817				adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity	g.chr19:45153219C>T	BC015542	CCDS12640.1, CCDS46105.1, CCDS46106.1, CCDS46107.1	19q13.2	2013-01-29			ENSG00000073008	ENSG00000073008		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9705	protein-coding gene	gene with protein product	"""nectin-like 5"""	173850		PVS		2170108	Standard	XM_005259120		Approved	CD155, HVED, Necl-5, NECL5, Tage4	uc002ozm.3	P15151	OTTHUMG00000151527	ENST00000425690.3:c.566C>T	19.37:g.45153219C>T	ENSP00000402060:p.Thr189Met					PVR_uc010ejs.2_Missense_Mutation_p.T189M|PVR_uc010xxb.1_Missense_Mutation_p.T189M|PVR_uc010xxc.1_Missense_Mutation_p.T189M|PVR_uc002ozn.2_Missense_Mutation_p.T134M	p.T189M	NM_006505	NP_006496	P15151	PVR_HUMAN		Epithelial(262;0.000601)	3	865	+	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)	189			Extracellular (Potential).|Ig-like C2-type 1.		B4DTS9|P15152|Q15267|Q15268|Q96BJ1	Missense_Mutation	SNP	ENST00000425690.3	37	c.566C>T	CCDS12640.1	.	.	.	.	.	.	.	.	.	.	C	9.265	1.044232	0.19748	.	.	ENSG00000073008	ENST00000344956;ENST00000425690;ENST00000406449;ENST00000403059	T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17	4.54	-9.08	0.00720	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.056560	0.00877	N	0.002090	T	0.62938	0.2469	L	0.28400	0.85	0.09310	N	1	B;B;B;B	0.31910	0.103;0.154;0.297;0.346	B;B;B;B	0.31442	0.027;0.08;0.08;0.13	T	0.57849	-0.7740	10	0.45353	T	0.12	.	7.8432	0.29410	0.1501:0.433:0.0:0.4169	.	189;189;189;189	P15151-2;P15151-3;P15151-4;P15151	.;.;.;PVR_HUMAN	M	189	ENSP00000340870:T189M;ENSP00000402060:T189M;ENSP00000383907:T189M;ENSP00000385344:T189M	ENSP00000340870:T189M	T	+	2	0	PVR	49845059	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.588000	0.05774	-2.189000	0.00758	-1.478000	0.00992	ACG		0.632	PVR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323017.2	NM_006505		18	86	0	0	0	0	18	86				
STRN4	29888	broad.mit.edu	37	19	47231911	47231911	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:47231911G>A	ENST00000263280.6	-	7	1052	c.1003C>T	c.(1003-1005)Cgg>Tgg	p.R335W	STRN4_ENST00000594357.2_5'Flank|CTB-174O21.2_ENST00000600716.1_RNA|STRN4_ENST00000391910.3_Missense_Mutation_p.R335W|STRN4_ENST00000539396.1_Missense_Mutation_p.R216W	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	335						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		GTGCACCGCCGAGGGTCTGGA	0.612																																						uc002pfl.2		NA																	0					0						c.(1003-1005)CGG>TGG		zinedin isoform 1							66.0	63.0	64.0					19																	47231911		2203	4300	6503	SO:0001583	missense	29888					cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding	g.chr19:47231911G>A	AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"""WD repeat domain containing"""	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.1003C>T	19.37:g.47231911G>A	ENSP00000263280:p.Arg335Trp					STRN4_uc002pfm.2_Missense_Mutation_p.R335W|STRN4_uc010xyf.1_RNA|STRN4_uc010xyg.1_RNA	p.R335W	NM_013403	NP_037535	Q9NRL3	STRN4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)	7	1036	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	335					A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Missense_Mutation	SNP	ENST00000263280.6	37	c.1003C>T	CCDS12690.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.050713	0.75960	.	.	ENSG00000090372	ENST00000391910;ENST00000263280;ENST00000539396;ENST00000435164	T;T;T	0.73469	-0.71;-0.75;-0.58	4.64	3.57	0.40892	.	0.172863	0.39834	N	0.001254	T	0.70430	0.3223	N	0.08118	0	0.47698	D	0.999498	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.99	T	0.73000	-0.4120	10	0.54805	T	0.06	-20.0636	9.7235	0.40317	0.0:0.0:0.6232:0.3768	.	335;335	F8VYA6;Q9NRL3	.;STRN4_HUMAN	W	335;335;216;216	ENSP00000375777:R335W;ENSP00000263280:R335W;ENSP00000440901:R216W	ENSP00000263280:R335W	R	-	1	2	STRN4	51923751	1.000000	0.71417	0.997000	0.53966	0.870000	0.49936	5.495000	0.66912	1.140000	0.42260	0.561000	0.74099	CGG		0.612	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2			10	68	0	0	0	0	10	68				
GYS1	2997	broad.mit.edu	37	19	49473096	49473096	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:49473096C>T	ENST00000323798.3	-	15	2022	c.1826G>A	c.(1825-1827)cGc>cAc	p.R609H	GYS1_ENST00000541188.1_Missense_Mutation_p.R529H|GYS1_ENST00000263276.6_Missense_Mutation_p.R545H|GYS1_ENST00000544287.1_Missense_Mutation_p.R242H	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	609					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		CGCCATGTGGCGCGCAGACAT	0.612																																						uc002plp.2		NA																	0				ovary(2)	2						c.(1825-1827)CGC>CAC		glycogen synthase 1 (muscle) isoform 1							55.0	52.0	53.0					19																	49473096		2203	4300	6503	SO:0001583	missense	2997				glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding	g.chr19:49473096C>T		CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.1826G>A	19.37:g.49473096C>T	ENSP00000317904:p.Arg609His					GYS1_uc010xzy.1_Missense_Mutation_p.R242H|GYS1_uc010emm.2_Missense_Mutation_p.R545H|GYS1_uc010xzz.1_Missense_Mutation_p.R529H	p.R609H	NM_002103	NP_002094	P13807	GYS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)	15	2067	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)	609					Q9BTT9	Missense_Mutation	SNP	ENST00000323798.3	37	c.1826G>A	CCDS12747.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.059791	0.76074	.	.	ENSG00000104812	ENST00000323798;ENST00000263276;ENST00000541188;ENST00000544287	T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.82857	0.5128	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.82796	-0.0280	10	0.51188	T	0.08	-25.4999	17.1141	0.86684	0.0:1.0:0.0:0.0	.	529;545;609	B7Z806;Q9BTT9;P13807	.;.;GYS1_HUMAN	H	609;545;529;242	ENSP00000317904:R609H;ENSP00000263276:R545H;ENSP00000437922:R529H;ENSP00000444004:R242H	ENSP00000263276:R545H	R	-	2	0	GYS1	54164908	1.000000	0.71417	0.974000	0.42286	0.286000	0.27126	6.894000	0.75655	2.721000	0.93114	0.655000	0.94253	CGC		0.612	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319791.1	NM_002103		10	110	0	0	0	0	10	110				
FCGRT	2217	broad.mit.edu	37	19	50017242	50017242	+	Silent	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:50017242G>C	ENST00000221466.5	+	3	663	c.177G>C	c.(175-177)ctG>ctC	p.L59L	FCGRT_ENST00000599988.1_Intron|FCGRT_ENST00000596975.1_Silent_p.L59L|FCGRT_ENST00000426395.3_Silent_p.L59L|FCGRT_ENST00000594823.1_3'UTR	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	59	Alpha-1.				antigen processing and presentation (GO:0019882)|IgG immunoglobulin transcytosis in epithelial cells mediated by FcRn immunoglobulin receptor (GO:0002416)|immune response (GO:0006955)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG binding (GO:0019864)			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		AGCAGTACCTGAGCTACAATA	0.642																																						uc002poe.2		NA																	0				ovary(1)	1						c.(175-177)CTG>CTC		Fc fragment of IgG, receptor, transporter, alpha							68.0	74.0	72.0					19																	50017242		2203	4300	6503	SO:0001819	synonymous_variant	2217				antigen processing and presentation|female pregnancy|immune response	integral to membrane|MHC class I protein complex	IgG binding|receptor activity	g.chr19:50017242G>C	U12255	CCDS12770.1	19q13.3	2013-01-11				ENSG00000104870		"""Immunoglobulin superfamily / C1-set domain containing"""	3621	protein-coding gene	gene with protein product		601437				7964511, 8646894	Standard	NM_001136019		Approved	FCRN, alpha-chain	uc002pog.2	P55899		ENST00000221466.5:c.177G>C	19.37:g.50017242G>C						FCGRT_uc002pod.2_RNA|FCGRT_uc002pog.2_Silent_p.L59L|FCGRT_uc002pof.1_5'UTR|FCGRT_uc010yax.1_Silent_p.L59L|FCGRT_uc002poh.1_5'Flank	p.L59L	NM_001136019	NP_001129491	P55899	FCGRN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)	3	663	+		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)	59			Extracellular (Potential).|Alpha-1.		Q5HYM5|Q9HBV7|Q9NZ19	Silent	SNP	ENST00000221466.5	37	c.177G>C	CCDS12770.1																																																																																				0.642	FCGRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465267.1			30	167	0	0	0	0	30	167				
SIGLEC11	114132	broad.mit.edu	37	19	50462016	50462016	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:50462016G>A	ENST00000447370.2	-	7	1337	c.1247C>T	c.(1246-1248)tCa>tTa	p.S416L	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.S416L|CTC-326K19.6_ENST00000451973.1_5'Flank	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	416	Ig-like C2-type 3.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CCCGGGGTCTGAGGGCTGGGA	0.677																																						uc010ybh.1		NA																	0				ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(1246-1248)TCA>TTA		sialic acid binding Ig-like lectin 11 isoform 1							44.0	50.0	48.0					19																	50462016		2203	4300	6503	SO:0001583	missense	114132				cell adhesion	integral to membrane	sugar binding	g.chr19:50462016G>A	AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"""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"""	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.1247C>T	19.37:g.50462016G>A	ENSP00000412361:p.Ser416Leu					SIGLEC11_uc010ybi.1_Missense_Mutation_p.S416L	p.S416L	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)	7	1338	-		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	416			Ig-like C2-type 3.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000447370.2	37	c.1247C>T	CCDS12790.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.52|13.52	2.261936|2.261936	0.39995|0.39995	.|.	.|.	ENSG00000161640|ENSG00000161640	ENST00000426971|ENST00000447370;ENST00000458019	.|T	.|0.21361	.|2.01	3.1|3.1	2.03|2.03	0.26663|0.26663	.|Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.|0.930571	.|0.08982	.|N	.|0.865595	.|T	.|0.32556	.|0.0833	L|L	0.46741|0.46741	1.465|1.465	0.09310|0.09310	N|N	1|1	.|D;P	.|0.58620	.|0.983;0.952	.|P;P	.|0.61201	.|0.885;0.842	.|T	.|0.14364	.|-1.0475	.|10	.|0.44086	.|T	.|0.13	.|.	6.7222|6.7222	0.23336|0.23336	0.1471:0.0:0.8529:0.0|0.1471:0.0:0.8529:0.0	.|.	.|416;416	.|Q96RL6-2;Q96RL6	.|.;SIG11_HUMAN	X|L	406|416	.|ENSP00000412361:S416L	.|ENSP00000412361:S416L	Q|S	-|-	1|2	0|0	SIGLEC11|SIGLEC11	55153828|55153828	0.000000|0.000000	0.05858|0.05858	0.005000|0.005000	0.12908|0.12908	0.207000|0.207000	0.24258|0.24258	0.050000|0.050000	0.14120|0.14120	0.586000|0.586000	0.29626|0.29626	0.556000|0.556000	0.70494|0.70494	CAG|TCA		0.677	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884		28	140	0	0	0	0	28	140				
SIGLEC10	89790	broad.mit.edu	37	19	51917032	51917032	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:51917032C>T	ENST00000339313.5	-	10	1871	c.1755G>A	c.(1753-1755)agG>agA	p.R585R	CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000441969.3_Silent_p.R432R|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000353836.5_Silent_p.R490R|SIGLEC10_ENST00000439889.2_Silent_p.R527R|SIGLEC10_ENST00000432469.2_Silent_p.R407R|SIGLEC10_ENST00000356298.5_Silent_p.R585R|SIGLEC10_ENST00000525998.1_Silent_p.R400R|SIGLEC10_ENST00000442846.3_Silent_p.R342R|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000436984.2_Silent_p.R442R			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	585					cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		AGAACCTGGGCCTCGGGGTTT	0.567																																						uc002pwo.2		NA																	0				skin(1)	1						c.(1753-1755)AGG>AGA		sialic acid binding Ig-like lectin 10 precursor							132.0	126.0	128.0					19																	51917032		2203	4300	6503	SO:0001819	synonymous_variant	89790				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr19:51917032C>T	AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15620	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 10 Ig-like lectin 7"", ""siglec-like gene 2"""	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.1755G>A	19.37:g.51917032C>T						SIGLEC10_uc002pwp.2_Silent_p.R527R|SIGLEC10_uc002pwq.2_Silent_p.R432R|SIGLEC10_uc002pwr.2_Silent_p.R490R|SIGLEC10_uc010ycy.1_Silent_p.R400R|SIGLEC10_uc010ycz.1_Silent_p.R442R|SIGLEC10_uc010eow.2_Silent_p.R302R|SIGLEC10_uc002pws.1_Silent_p.R326R	p.R585R	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)	10	2371	-		all_neural(266;0.0199)	585			Cytoplasmic (Potential).		A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Silent	SNP	ENST00000339313.5	37	c.1755G>A	CCDS12832.1																																																																																				0.567	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130		16	212	0	0	0	0	16	212				
ZNF880	400713	broad.mit.edu	37	19	52887776	52887776	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:52887776C>T	ENST00000422689.2	+	4	958	c.943C>T	c.(943-945)Cag>Tag	p.Q315*		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	315					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						TGCACGACATCAGAAAATTCA	0.423																																						uc002pzc.2		NA																	0					0						c.(943-945)CAG>TAG		zinc finger protein LOC400713							59.0	54.0	55.0					19																	52887776		1568	3582	5150	SO:0001587	stop_gained	400713				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:52887776C>T	BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"""Zinc fingers, C2H2-type"", ""-"""	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.943C>T	19.37:g.52887776C>T	ENSP00000406318:p.Gln315*						p.Q315*	NM_001145434	NP_001138906	Q6PDB4	ZN880_HUMAN			4	992	+			315			C2H2-type 5.		B4DNA6	Nonsense_Mutation	SNP	ENST00000422689.2	37	c.943C>T	CCDS46164.1	.	.	.	.	.	.	.	.	.	.	C	10.79	1.450028	0.26074	.	.	ENSG00000221923	ENST00000422689	.	.	.	1.89	-0.588	0.11687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.6613	0.05027	0.2163:0.3341:0.0:0.4496	.	.	.	.	X	315	.	.	Q	+	1	0	ZNF880	57579588	0.001000	0.12720	0.000000	0.03702	0.011000	0.07611	0.086000	0.14935	-0.251000	0.09542	-0.404000	0.06349	CAG		0.423	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397374.1	NM_001145434		7	59	0	0	0	0	7	59				
ZNF468	90333	broad.mit.edu	37	19	53344521	53344521	+	Silent	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:53344521C>A	ENST00000595646.1	-	4	1146	c.1026G>T	c.(1024-1026)ctG>ctT	p.L342L	ZNF468_ENST00000396409.4_Silent_p.L289L|ZNF468_ENST00000243639.4_3'UTR|ZNF468_ENST00000390651.4_Silent_p.L289L|ZNF28_ENST00000594602.1_Intron			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	342					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		TATGTTTTGCCAGATATGAAT	0.383																																						uc002qaf.2		NA																	0				ovary(2)	2						c.(1024-1026)CTG>CTT		zinc finger protein ZNF468 isoform 2							122.0	126.0	124.0					19																	53344521		2203	4300	6503	SO:0001819	synonymous_variant	90333				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53344521C>A	AK023558	CCDS33094.1, CCDS62781.1	19q13.41	2013-01-08				ENSG00000204604		"""Zinc fingers, C2H2-type"", ""-"""	33105	protein-coding gene	gene with protein product						16144304	Standard	NM_001277120		Approved		uc002qaf.3	Q5VIY5		ENST00000595646.1:c.1026G>T	19.37:g.53344521C>A						ZNF468_uc002qae.2_Silent_p.L289L	p.L342L	NM_001008801	NP_001008801	Q5VIY5	ZN468_HUMAN		GBM - Glioblastoma multiforme(134;0.0358)	4	1177	-			342			C2H2-type 5.		A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Silent	SNP	ENST00000595646.1	37	c.1026G>T	CCDS33094.1																																																																																				0.383	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463098.1	NM_001008801		23	260	1	0	1.5e-11	1.64e-11	23	260				
LAIR2	3904	broad.mit.edu	37	19	55014149	55014149	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:55014149C>T	ENST00000301202.2	+	1	137	c.15C>T	c.(13-15)ctC>ctT	p.L5L	LAIR2_ENST00000351841.2_Silent_p.L5L	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	5						extracellular region (GO:0005576)				central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		CTCCACACCTCACTGCTCTCC	0.627																																						uc002qgc.2		NA																	0				ovary(1)	1						c.(13-15)CTC>CTT		leukocyte-associated immunoglobulin-like							88.0	78.0	81.0					19																	55014149		2203	4300	6503	SO:0001819	synonymous_variant	3904					extracellular region	receptor activity	g.chr19:55014149C>T	AF013250	CCDS12897.1, CCDS12898.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167618	ENSG00000167618		"""Leukocyte-associated Ig like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6478	protein-coding gene	gene with protein product		602993	"""leukocyte-associated Ig-like receptor 2"""			9285412	Standard	XM_005277264		Approved	CD306	uc002qgc.3	Q6ISS4	OTTHUMG00000065697	ENST00000301202.2:c.15C>T	19.37:g.55014149C>T						LAIR2_uc002qga.1_Intron|LAIR2_uc002qgb.1_Intron|LAIR2_uc002qgd.2_Silent_p.L5L|LAIR2_uc010erl.2_Silent_p.L5L	p.L5L	NM_002288	NP_002279	Q6ISS4	LAIR2_HUMAN		GBM - Glioblastoma multiforme(193;0.0967)	1	137	+	Ovarian(34;0.19)		5					Q6PEZ4	Silent	SNP	ENST00000301202.2	37	c.15C>T	CCDS12897.1																																																																																				0.627	LAIR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140801.1			12	133	0	0	0	0	12	133				
LILRA2	11027	broad.mit.edu	37	19	55086049	55086049	+	Splice_Site	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:55086049G>T	ENST00000251377.3	+	4	485	c.352G>T	c.(352-354)Gga>Tga	p.G118*	LILRA2_ENST00000251376.3_Splice_Site_p.G118*|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000495786.1_3'UTR|LILRA2_ENST00000391738.3_Splice_Site_p.G118*|LILRA2_ENST00000391737.1_Splice_Site_p.G106*|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	118	Ig-like C2-type 2.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GGTGGTGACAGGTGAGAGGAC	0.607																																						uc002qgg.3		NA																	0				ovary(1)	1						c.(352-354)GGA>TGA		leukocyte immunoglobulin-like receptor,							67.0	61.0	63.0					19																	55086049		2203	4300	6503	SO:0001630	splice_region_variant	11027				defense response	integral to membrane	antigen binding|receptor activity	g.chr19:55086049G>T	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.352+1G>T	19.37:g.55086049G>T						LILRA2_uc010ern.2_Nonsense_Mutation_p.G118*|LILRA2_uc002qgf.2_Nonsense_Mutation_p.G118*|LILRA2_uc010yfe.1_Nonsense_Mutation_p.G118*|LILRA2_uc010yff.1_Nonsense_Mutation_p.G106*|LILRA2_uc010ero.2_Nonsense_Mutation_p.G106*|LILRA2_uc010yfg.1_Nonsense_Mutation_p.G118*	p.G118*	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN		GBM - Glioblastoma multiforme(193;0.0963)	3	441	+			118			Extracellular (Potential).|Ig-like C2-type 2.		O75020	Nonsense_Mutation	SNP	ENST00000251377.3	37	c.352G>T	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.955235	0.73902	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	.	.	.	2.93	2.93	0.34026	.	0.275088	0.25654	N	0.029198	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	9.5397	0.39244	0.0:0.0:1.0:0.0	.	.	.	.	X	118;118;118;118;106	.	ENSP00000251376:G118X	G	+	1	0	LILRA2	59777861	1.000000	0.71417	0.828000	0.32881	0.496000	0.33645	2.215000	0.42862	1.643000	0.50594	0.508000	0.49915	GGA		0.607	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2		Nonsense_Mutation	19	88	1	0	2.94e-08	3.16e-08	19	88				
NLRP5	126206	broad.mit.edu	37	19	56569758	56569758	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:56569758C>G	ENST00000390649.3	+	14	3452	c.3452C>G	c.(3451-3453)tCt>tGt	p.S1151C		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	1151					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)	p.S1151C(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGTCCCACGTCTAACTTACAG	0.483																																						uc002qmj.2		NA																	1	Substitution - Missense(1)		central_nervous_system(1)	ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7						c.(3451-3453)TCT>TGT		NACHT, LRR and PYD containing protein 5							60.0	60.0	60.0					19																	56569758		2008	4179	6187	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56569758C>G	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.3452C>G	19.37:g.56569758C>G	ENSP00000375063:p.Ser1151Cys					NLRP5_uc002qmi.2_Missense_Mutation_p.S1132C	p.S1151C	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	14	3452	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	1151					A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.3452C>G	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	C	2.836	-0.241633	0.05906	.	.	ENSG00000171487	ENST00000390649	T	0.53640	0.61	3.5	-0.119	0.13543	.	0.000000	0.33346	N	0.005009	T	0.22781	0.0550	N	0.04018	-0.295	0.09310	N	1	B	0.11235	0.004	B	0.18871	0.023	T	0.20273	-1.0280	10	0.32370	T	0.25	.	11.103	0.48186	0.0:0.4715:0.5285:0.0	.	1151	P59047	NALP5_HUMAN	C	1151	ENSP00000375063:S1151C	ENSP00000375063:S1151C	S	+	2	0	NLRP5	61261570	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.951000	0.03885	0.087000	0.17167	-0.165000	0.13383	TCT		0.483	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		7	56	0	0	0	0	7	56				
ZNF543	125919	broad.mit.edu	37	19	57839434	57839434	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:57839434G>A	ENST00000321545.4	+	4	949	c.604G>A	c.(604-606)Gag>Aag	p.E202K		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	202					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CTATAAATGTGAGGAATGCGG	0.413																																						uc002qoi.1		NA																	0				skin(1)|pancreas(1)	2						c.(604-606)GAG>AAG		zinc finger protein 543							97.0	98.0	97.0					19																	57839434		2203	4300	6503	SO:0001583	missense	125919				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57839434G>A	AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"""Zinc fingers, C2H2-type"", ""-"""	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.604G>A	19.37:g.57839434G>A	ENSP00000322545:p.Glu202Lys						p.E202K	NM_213598	NP_998763	Q08ER8	ZN543_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	949	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	202			C2H2-type 1.		Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Missense_Mutation	SNP	ENST00000321545.4	37	c.604G>A	CCDS33130.1	.	.	.	.	.	.	.	.	.	.	G	7.355	0.623679	0.14193	.	.	ENSG00000178229	ENST00000321545	T	0.28069	1.63	2.33	-4.17	0.03857	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10680	0.0261	N	0.15975	0.35	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.34129	-0.9841	9	0.02654	T	1	.	2.7509	0.05280	0.2086:0.1458:0.5004:0.1451	.	202	Q08ER8	ZN543_HUMAN	K	202	ENSP00000322545:E202K	ENSP00000322545:E202K	E	+	1	0	ZNF543	62531246	0.000000	0.05858	0.002000	0.10522	0.080000	0.17528	-2.933000	0.00687	-1.205000	0.02645	-0.291000	0.09656	GAG		0.413	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	XM_064865		12	153	0	0	0	0	12	153				
ZNF416	55659	broad.mit.edu	37	19	58083744	58083744	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:58083744C>T	ENST00000196489.3	-	4	1750	c.1528G>A	c.(1528-1530)Gtt>Att	p.V510I		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	510					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)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		TGGTGTTCAACGAGGGTATAG	0.428																																						uc002qpf.2		NA																	0					0						c.(1528-1530)GTT>ATT		zinc finger protein 416							94.0	94.0	94.0					19																	58083744		2203	4300	6503	SO:0001583	missense	55659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58083744C>T	BC000130	CCDS12954.1	19q13.4	2013-01-08				ENSG00000083817		"""Zinc fingers, C2H2-type"", ""-"""	20645	protein-coding gene	gene with protein product							Standard	NM_017879		Approved	FLJ20557	uc002qpf.3	Q9BWM5		ENST00000196489.3:c.1528G>A	19.37:g.58083744C>T	ENSP00000196489:p.Val510Ile					ZNF547_uc002qpm.3_Intron	p.V510I	NM_017879	NP_060349	Q9BWM5	ZN416_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)	4	1699	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	510			C2H2-type 10.		Q9NWW8	Missense_Mutation	SNP	ENST00000196489.3	37	c.1528G>A	CCDS12954.1	.	.	.	.	.	.	.	.	.	.	C	3.646	-0.072618	0.07228	.	.	ENSG00000083817	ENST00000196489;ENST00000359489;ENST00000428052	T	0.07688	3.17	3.58	-0.0601	0.13790	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03136	0.0092	N	0.05124	-0.11	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.45425	-0.9262	9	0.02654	T	1	.	8.41	0.32638	0.0:0.5317:0.0:0.4683	.	510	Q9BWM5	ZN416_HUMAN	I	510;413;408	ENSP00000196489:V510I	ENSP00000196489:V510I	V	-	1	0	ZNF416	62775556	0.000000	0.05858	0.000000	0.03702	0.789000	0.44602	0.073000	0.14640	-0.174000	0.10743	-0.140000	0.14226	GTT		0.428	ZNF416-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466787.1	NM_017879		9	171	0	0	0	0	9	171				
ZBTB45	84878	broad.mit.edu	37	19	59028991	59028991	+	Missense_Mutation	SNP	C	C	T	rs117819245	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:59028991C>T	ENST00000594051.1	-	2	530	c.50G>A	c.(49-51)cGc>cAc	p.R17H	ZBTB45_ENST00000354590.3_Missense_Mutation_p.R17H|ZBTB45_ENST00000600990.1_Missense_Mutation_p.R17H			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	17					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		AAGCAGAGAGCGTGAGAAGTT	0.592											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	2	0.000399361	0.0	0.0	5008	,	,		16977	0.002		0.0	False		,,,				2504	0.0				NSCLC(164;1383 2017 5233 27540 46677)	uc002qtd.2		NA																	0					0						c.(49-51)CGC>CAC		zinc finger and BTB domain containing 45							58.0	64.0	62.0					19																	59028991		2203	4300	6503	SO:0001583	missense	84878				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:59028991C>T	AK027392	CCDS12984.1	19q13.43	2013-10-10	2006-09-19	2006-09-19	ENSG00000119574	ENSG00000119574		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	23715	protein-coding gene	gene with protein product			"""zinc finger protein 499"""	ZNF499			Standard	NM_032792		Approved	FLJ14486	uc002qtd.3	Q96K62	OTTHUMG00000183545	ENST00000594051.1:c.50G>A	19.37:g.59028991C>T	ENSP00000469089:p.Arg17His		OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1035	ZBTB45_uc002qte.2_Missense_Mutation_p.R17H|ZBTB45_uc002qtf.2_Missense_Mutation_p.R17H	p.R17H	NM_032792	NP_116181	Q96K62	ZBT45_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)	2	342	-		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	17						Missense_Mutation	SNP	ENST00000594051.1	37	c.50G>A	CCDS12984.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	c	21.4	4.140809	0.77775	.	.	ENSG00000119574	ENST00000354590	T	0.22336	1.96	4.08	3.02	0.34903	BTB/POZ fold (2);	0.213572	0.30151	U	0.010288	T	0.16938	0.0407	N	0.20574	0.59	0.32519	N	0.536512	D	0.71674	0.998	P	0.51193	0.662	T	0.09952	-1.0651	10	0.72032	D	0.01	.	5.7498	0.18140	0.0:0.7671:0.0:0.2329	.	17	Q96K62	ZBT45_HUMAN	H	17	ENSP00000346603:R17H	ENSP00000346603:R17H	R	-	2	0	ZBTB45	63720803	0.010000	0.17322	0.353000	0.25747	0.961000	0.63080	1.264000	0.33015	1.998000	0.58463	0.305000	0.20034	CGC		0.592	ZBTB45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467067.1	NM_032792		9	58	0	0	0	0	9	58				
ADI1	55256	broad.mit.edu	37	2	3504681	3504681	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:3504681C>T	ENST00000327435.6	-	3	572	c.324G>A	c.(322-324)agG>agA	p.R108R	ADI1_ENST00000382093.5_Silent_p.R102R	NM_018269.3	NP_060739.2			acireductone dioxygenase 1											breast(2)|large_intestine(2)|lung(4)|ovary(1)|stomach(1)	10	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228)		CCTCCTTGTCCCTCACATCGA	0.542																																						uc002qxp.3		NA																	0				ovary(1)	1						c.(322-324)AGG>AGA		acireductone dioxygenase 1							227.0	169.0	189.0					2																	3504681		2203	4300	6503	SO:0001819	synonymous_variant	55256				L-methionine salvage from methylthioadenosine	cytoplasm|nucleus|plasma membrane	acireductone dioxygenase (Ni2+-requiring) activity|metal ion binding|protein binding	g.chr2:3504681C>T		CCDS1653.1	2p25.2	2013-05-29			ENSG00000182551	ENSG00000182551	1.13.11.54		30576	protein-coding gene	gene with protein product	"""membrane-type 1 matrix metalloproteinase cytoplasmic tail binding protein-1"""	613400				14718544, 15938715	Standard	NM_018269		Approved	SIPL, MTCBP-1, ARD, APL1, FLJ10913, HMFT1638, mtnD	uc002qxp.4	Q9BV57	OTTHUMG00000112441	ENST00000327435.6:c.324G>A	2.37:g.3504681C>T						ADI1_uc010yiq.1_RNA	p.R108R	NM_018269	NP_060739	Q9BV57	MTND_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228)	3	416	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		108	R -> G (in Ref. 5; BAD96187).					Silent	SNP	ENST00000327435.6	37	c.324G>A	CCDS1653.1																																																																																				0.542	ADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000231914.6	NM_018269		8	68	0	0	0	0	8	68				
COLEC11	78989	broad.mit.edu	37	2	3691322	3691322	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:3691322G>A	ENST00000349077.4	+	7	533	c.430G>A	c.(430-432)Gcc>Acc	p.A144T	COLEC11_ENST00000402922.1_Missense_Mutation_p.A94T|COLEC11_ENST00000402794.1_Missense_Mutation_p.A94T|COLEC11_ENST00000404205.1_Missense_Mutation_p.A70T|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000418971.2_Missense_Mutation_p.A158T|COLEC11_ENST00000403096.3_Missense_Mutation_p.A118T|COLEC11_ENST00000382062.2_Missense_Mutation_p.A120T|COLEC11_ENST00000236693.7_Missense_Mutation_p.A141T	NM_024027.4	NP_076932.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	144					developmental process (GO:0032502)|multicellular organismal development (GO:0007275)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		CACAGCTGTCGCCGGTGTGCG	0.637																																						uc002qya.2		NA																	0					0						c.(430-432)GCC>ACC		collectin sub-family member 11 isoform a							51.0	52.0	52.0					2																	3691322		2202	4292	6494	SO:0001583	missense	78989					collagen	mannose binding	g.chr2:3691322G>A	BC000078	CCDS1649.1, CCDS1650.1, CCDS58689.1, CCDS58690.1, CCDS58691.1, CCDS58692.1, CCDS58693.1, CCDS58694.1	2p25.3	2014-09-17			ENSG00000118004	ENSG00000118004		"""Collectins"""	17213	protein-coding gene	gene with protein product	"""Collectin K1"""	612502					Standard	NM_024027		Approved	MGC3279, CL-K1	uc031rnn.1	Q9BWP8	OTTHUMG00000090304	ENST00000349077.4:c.430G>A	2.37:g.3691322G>A	ENSP00000339168:p.Ala144Thr					COLEC11_uc002qxz.2_Missense_Mutation_p.A141T|COLEC11_uc002qyb.2_Missense_Mutation_p.A120T|COLEC11_uc002qyc.2_Missense_Mutation_p.A120T|COLEC11_uc010ewo.2_Missense_Mutation_p.A96T|COLEC11_uc010ewp.2_Missense_Mutation_p.A118T|COLEC11_uc010ewq.2_Missense_Mutation_p.A94T|COLEC11_uc010ewr.2_Missense_Mutation_p.A94T|COLEC11_uc010ews.2_Missense_Mutation_p.A70T	p.A144T	NM_024027	NP_076932	Q9BWP8	COL11_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.127)	7	578	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		144			Potential.		A1IGE4|A1IGE5|A1IGE6|A7VJJ2|A7VJJ3|A7VJJ4|A7VJJ5|B2R9M5|B4E1G0|J3KQY9|Q5CZ85|Q7Z6N1	Missense_Mutation	SNP	ENST00000349077.4	37	c.430G>A	CCDS1649.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.518322	0.64634	.	.	ENSG00000118004	ENST00000382062;ENST00000236693;ENST00000349077;ENST00000418971;ENST00000403096;ENST00000402794;ENST00000404205;ENST00000402922	T;T;D;D;D;D;T;D	0.92299	-0.24;3.49;-2.06;-2.2;-1.56;-3.01;3.32;-3.01	5.09	5.09	0.68999	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (1);	0.000000	0.85682	D	0.000000	D	0.95153	0.8429	L	0.61218	1.895	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.91635	0.997;0.999;0.999;0.992;0.999;0.999;0.999;0.983;0.988	D	0.94362	0.7588	10	0.37606	T	0.19	-18.5481	17.4767	0.87661	0.0:0.0:1.0:0.0	.	70;94;94;118;96;120;120;144;141	Q9BWP8-8;Q9BWP8-7;Q9BWP8-6;Q9BWP8-4;Q9BWP8-5;Q9BWP8-3;Q9BWP8-2;Q9BWP8;Q9BWP8-9	.;.;.;.;.;.;.;COL11_HUMAN;.	T	120;141;144;158;118;94;70;94	ENSP00000371494:A120T;ENSP00000236693:A141T;ENSP00000339168:A144T;ENSP00000411770:A158T;ENSP00000385130:A118T;ENSP00000384882:A94T;ENSP00000385827:A70T;ENSP00000385653:A94T	ENSP00000236693:A141T	A	+	1	0	COLEC11	3669197	1.000000	0.71417	0.318000	0.25279	0.008000	0.06430	7.871000	0.87180	2.351000	0.79841	0.467000	0.42956	GCC		0.637	COLEC11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206666.1	NM_024027		15	127	0	0	0	0	15	127				
WDR35	57539	broad.mit.edu	37	2	20138032	20138032	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:20138032C>T	ENST00000345530.3	-	19	2205	c.2090G>A	c.(2089-2091)cGa>cAa	p.R697Q	WDR35_ENST00000416055.2_Missense_Mutation_p.R262Q|WDR35_ENST00000281405.4_Missense_Mutation_p.R686Q	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	697					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATACCAAAGTCGGGGGTGTGG	0.443																																						uc002rdi.2		NA																	0				ovary(1)	1						c.(2089-2091)CGA>CAA		WD repeat domain 35 isoform 1							109.0	111.0	110.0					2																	20138032		2203	4300	6503	SO:0001583	missense	57539							g.chr2:20138032C>T	AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.2090G>A	2.37:g.20138032C>T	ENSP00000314444:p.Arg697Gln					WDR35_uc002rdj.2_Missense_Mutation_p.R686Q|WDR35_uc010ext.2_RNA|WDR35_uc002rdh.2_Missense_Mutation_p.R262Q|WDR35_uc002rdk.3_Missense_Mutation_p.R262Q	p.R697Q	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN			19	2198	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		697					B3KVI5|Q4ZG01|Q8NE11	Missense_Mutation	SNP	ENST00000345530.3	37	c.2090G>A	CCDS33152.1	.	.	.	.	.	.	.	.	.	.	C	36	5.602071	0.96614	.	.	ENSG00000118965	ENST00000345530;ENST00000281405;ENST00000416055;ENST00000453014	T;T;T;D	0.87029	-0.19;-0.2;-0.8;-2.2	5.59	5.59	0.84812	.	0.054417	0.64402	D	0.000002	D	0.94670	0.8281	M	0.88640	2.97	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.998	D;D;D;D	0.85130	0.987;0.997;0.971;0.927	D	0.94900	0.8055	10	0.59425	D	0.04	-10.7003	18.5646	0.91113	0.0:1.0:0.0:0.0	.	697;686;697;262	F8WB94;Q9P2L0-2;Q9P2L0;B3KR94	.;.;WDR35_HUMAN;.	Q	697;686;262;232	ENSP00000314444:R697Q;ENSP00000281405:R686Q;ENSP00000399159:R262Q;ENSP00000404409:R232Q	ENSP00000281405:R686Q	R	-	2	0	WDR35	20001513	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.794000	0.85869	2.640000	0.89533	0.591000	0.81541	CGA		0.443	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	NM_020779		14	166	0	0	0	0	14	166				
ITSN2	50618	broad.mit.edu	37	2	24443816	24443816	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:24443816C>T	ENST00000355123.4	-	30	4140	c.3697G>A	c.(3697-3699)Gag>Aag	p.E1233K	ITSN2_ENST00000361999.3_Missense_Mutation_p.E1206K|ITSN2_ENST00000406921.3_Missense_Mutation_p.E1233K|AC009228.1_ENST00000430105.1_RNA|AC009228.1_ENST00000413989.1_RNA	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1233	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCCTCACCTCGACGACGAGC	0.552																																						uc002rfe.2		NA																	0				kidney(2)|ovary(1)|central_nervous_system(1)	4						c.(3697-3699)GAG>AAG		intersectin 2 isoform 1							182.0	157.0	166.0					2																	24443816		2203	4300	6503	SO:0001583	missense	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24443816C>T	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.3697G>A	2.37:g.24443816C>T	ENSP00000347244:p.Glu1233Lys					ITSN2_uc002rff.2_Missense_Mutation_p.E1206K|ITSN2_uc002rfg.2_Missense_Mutation_p.E1233K	p.E1233K	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN			30	3955	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1233			DH.		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	c.3697G>A	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	C	19.33	3.806618	0.70682	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000406921	T;T;T;T	0.64085	-0.08;-0.08;-0.08;1.47	3.78	3.78	0.43462	Dbl homology (DH) domain (5);	0.000000	0.37483	U	0.002078	T	0.74824	0.3767	L	0.58669	1.825	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.985;0.99;0.994	T	0.78311	-0.2253	10	0.87932	D	0	.	15.1053	0.72315	0.0:1.0:0.0:0.0	.	1233;1206;1233	Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;ITSN2_HUMAN	K	1206;1233;1206;1233	ENSP00000354561:E1206K;ENSP00000347244:E1233K;ENSP00000370250:E1206K;ENSP00000384499:E1233K	ENSP00000347244:E1233K	E	-	1	0	ITSN2	24297320	1.000000	0.71417	0.944000	0.38274	0.871000	0.50021	7.228000	0.78079	2.413000	0.81919	0.561000	0.74099	GAG		0.552	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		32	223	0	0	0	0	32	223				
NCOA1	8648	broad.mit.edu	37	2	24952396	24952396	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:24952396G>C	ENST00000406961.1	+	17	3565	c.2913G>C	c.(2911-2913)gaG>gaC	p.E971D	NCOA1_ENST00000288599.5_Missense_Mutation_p.E971D|NCOA1_ENST00000538539.1_Missense_Mutation_p.E971D|NCOA1_ENST00000405141.1_Missense_Mutation_p.E971D|NCOA1_ENST00000348332.3_Missense_Mutation_p.E971D|NCOA1_ENST00000395856.3_Missense_Mutation_p.E971D|NCOA1_ENST00000407230.1_Missense_Mutation_p.E820D			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	971	Interaction with CREBBP.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TATTATCAGAGAGATTTCCAC	0.403			T	PAX3	alveolar rhadomyosarcoma																																	uc002rfk.2		NA		Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	0				soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11						c.(2911-2913)GAG>GAC		nuclear receptor coactivator 1 isoform 1							125.0	114.0	118.0					2																	24952396		2203	4300	6503	SO:0001583	missense	8648							g.chr2:24952396G>C	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.2913G>C	2.37:g.24952396G>C	ENSP00000385216:p.Glu971Asp					NCOA1_uc010eye.2_Missense_Mutation_p.E971D|NCOA1_uc002rfi.2_Missense_Mutation_p.E820D|NCOA1_uc002rfj.2_Missense_Mutation_p.E971D|NCOA1_uc002rfl.2_Missense_Mutation_p.E971D	p.E971D	NM_003743	NP_003734	Q15788	NCOA1_HUMAN			15	3171	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		971			Interaction with CREBBP.		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	ENST00000406961.1	37	c.2913G>C	CCDS1712.1	.	.	.	.	.	.	.	.	.	.	G	6.298	0.423024	0.11928	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T;T	0.02085	4.57;4.57;4.46;4.57;4.57;4.57;4.57	4.98	3.15	0.36227	Nuclear receptor coactivator, Ncoa-type, interlocking (1);	0.267444	0.42821	N	0.000658	T	0.00936	0.0031	N	0.01576	-0.805	0.39933	D	0.974317	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.55903	-0.8067	10	0.28530	T	0.3	.	5.0897	0.14702	0.0794:0.1597:0.6173:0.1436	.	971;971;971;820	Q15788-3;Q15788;Q15788-2;B5MCN7	.;NCOA1_HUMAN;.;.	D	971;971;820;971;971;971;971	ENSP00000385216:E971D;ENSP00000385097:E971D;ENSP00000385195:E820D;ENSP00000444039:E971D;ENSP00000320940:E971D;ENSP00000288599:E971D;ENSP00000379197:E971D	ENSP00000288599:E971D	E	+	3	2	NCOA1	24805900	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.623000	0.24447	0.792000	0.33850	0.585000	0.79938	GAG		0.403	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		23	188	0	0	0	0	23	188				
IFT172	26160	broad.mit.edu	37	2	27684340	27684340	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:27684340C>T	ENST00000260570.3	-	22	2341	c.2238G>A	c.(2236-2238)tgG>tgA	p.W746*		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	746					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TGTCCATCAGCCACTGGTAGT	0.582																																						uc002rku.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(2236-2238)TGG>TGA		selective LIM binding factor homolog							102.0	101.0	101.0					2																	27684340		2203	4300	6503	SO:0001587	stop_gained	26160				cilium assembly	cilium	binding	g.chr2:27684340C>T	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.2238G>A	2.37:g.27684340C>T	ENSP00000260570:p.Trp746*						p.W746*	NM_015662	NP_056477	Q9UG01	IF172_HUMAN			22	2289	-	Acute lymphoblastic leukemia(172;0.155)		746					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Nonsense_Mutation	SNP	ENST00000260570.3	37	c.2238G>A	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	C	38	6.921739	0.97936	.	.	ENSG00000138002	ENST00000260570	.	.	.	5.29	5.29	0.74685	.	0.226241	0.49305	D	0.000151	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.7499	13.257	0.60085	0.0:0.8403:0.1597:0.0	.	.	.	.	X	746	.	ENSP00000260570:W746X	W	-	3	0	IFT172	27537844	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	4.693000	0.61753	2.481000	0.83766	0.585000	0.79938	TGG		0.582	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		12	195	0	0	0	0	12	195				
RMDN2	151393	broad.mit.edu	37	2	38202364	38202364	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:38202364G>A	ENST00000406384.1	+	4	831	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	RMDN2_ENST00000234195.3_Missense_Mutation_p.E391K|RMDN2_ENST00000354545.2_Missense_Mutation_p.E213K|RMDN2_ENST00000417700.2_Missense_Mutation_p.E68K|RMDN2_ENST00000407257.1_Missense_Mutation_p.E391K|RMDN2-AS1_ENST00000414365.2_RNA	NM_001170792.1	NP_001164263.1	Q96LZ7	RMD2_HUMAN	regulator of microtubule dynamics 2	213						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)											GTTTAGAGATGAAATAGAGTT	0.318																																						uc002rql.2		NA																	0				ovary(1)	1						c.(637-639)GAA>AAA		family with sequence similarity 82, member A1							105.0	102.0	103.0					2																	38202364		2203	4300	6503	SO:0001583	missense	151393					cytoplasm|integral to membrane|microtubule|spindle pole	binding	g.chr2:38202364G>A	AK057516	CCDS1792.1, CCDS54351.1, CCDS54352.1	2p22.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000115841	ENSG00000115841			26567	protein-coding gene	gene with protein product		611872	"""family with sequence similarity 82, member A1"""	FAM82A, FAM82A1		12477932	Standard	XM_005264161		Approved	FLJ32954, RMD2	uc002rqn.2	Q96LZ7	OTTHUMG00000128487	ENST00000406384.1:c.637G>A	2.37:g.38202364G>A	ENSP00000386004:p.Glu213Lys					FAM82A1_uc002rqn.1_Missense_Mutation_p.E391K|FAM82A1_uc002rqk.1_Missense_Mutation_p.E68K|FAM82A1_uc002rqm.2_Missense_Mutation_p.E68K	p.E213K	NM_144713	NP_653314	Q96LZ7	RMD2_HUMAN			4	760	+			213					A9UMZ7|A9UN00|Q4ZG33|Q6UXN4|Q8N657|Q8N9A2|Q8NCV6|Q8NHM0	Missense_Mutation	SNP	ENST00000406384.1	37	c.637G>A	CCDS54351.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.168181	0.38315	.	.	ENSG00000115841	ENST00000354545;ENST00000406384;ENST00000407257;ENST00000417700;ENST00000234195;ENST00000442857	T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9	4.98	4.98	0.66077	.	0.331079	0.30611	N	0.009245	T	0.32645	0.0836	L	0.38175	1.15	0.30840	N	0.735738	B;B;B;B	0.30709	0.0;0.1;0.244;0.291	B;B;B;B	0.27715	0.001;0.061;0.061;0.082	T	0.31138	-0.9954	10	0.33141	T	0.24	.	13.6036	0.62035	0.0:0.0:1.0:0.0	.	391;68;213;68	Q96LZ7-2;Q96LZ7-4;Q96LZ7;Q96LZ7-3	.;.;RMD2_HUMAN;.	K	213;213;391;68;391;68	ENSP00000346549:E213K;ENSP00000386004:E213K;ENSP00000385049:E391K;ENSP00000392977:E68K;ENSP00000234195:E391K;ENSP00000416367:E68K	ENSP00000234195:E391K	E	+	1	0	FAM82A1	38055868	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.833000	0.39161	2.576000	0.86940	0.563000	0.77884	GAA		0.318	RMDN2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325577.1	NM_144713		7	88	0	0	0	0	7	88				
TMEM178A	130733	broad.mit.edu	37	2	39934249	39934249	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:39934249G>A	ENST00000281961.2	+	3	631	c.575G>A	c.(574-576)tGc>tAc	p.C192Y	TMEM178A_ENST00000482239.1_3'UTR	NM_152390.2	NP_689603.2	Q8NBL3	T178A_HUMAN	transmembrane protein 178A	192						integral component of membrane (GO:0016021)											CTCTGCGGCTGCATTGTGGCC	0.527																																						uc002rrt.2		NA																	0					0						c.(574-576)TGC>TAC		transmembrane protein 178 precursor							72.0	63.0	66.0					2																	39934249		2203	4300	6503	SO:0001583	missense	130733					integral to membrane		g.chr2:39934249G>A	BC029530	CCDS1804.1	2p22.1	2012-06-29	2012-06-29	2012-06-29	ENSG00000152154	ENSG00000152154			28517	protein-coding gene	gene with protein product			"""transmembrane protein 178"""	TMEM178		12975309	Standard	NM_001167959		Approved	MGC33926	uc002rrt.3	Q8NBL3	OTTHUMG00000128591	ENST00000281961.2:c.575G>A	2.37:g.39934249G>A	ENSP00000281961:p.Cys192Tyr					TMEM178_uc010fam.1_Intron	p.C192Y	NM_152390	NP_689603	Q8NBL3	TM178_HUMAN			3	600	+		all_hematologic(82;0.248)	192			Helical; (Potential).		Q6UWI6|Q8N6N4	Missense_Mutation	SNP	ENST00000281961.2	37	c.575G>A	CCDS1804.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995548	0.74703	.	.	ENSG00000152154	ENST00000281961	T	0.68903	-0.36	5.19	5.19	0.71726	.	0.138421	0.64402	D	0.000003	T	0.55033	0.1895	L	0.40543	1.245	0.47511	D	0.999447	P	0.37176	0.586	B	0.30316	0.114	T	0.55798	-0.8084	9	.	.	.	-17.368	16.2261	0.82293	0.0:0.0:1.0:0.0	.	192	Q8NBL3	TM178_HUMAN	Y	192	ENSP00000281961:C192Y	.	C	+	2	0	TMEM178	39787753	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.567000	0.60850	2.437000	0.82529	0.655000	0.94253	TGC		0.527	TMEM178A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250445.2	NM_152390		5	49	0	0	0	0	5	49				
NRXN1	9378	broad.mit.edu	37	2	50149190	50149190	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:50149190G>A	ENST00000406316.2	-	22	5802	c.4326C>T	c.(4324-4326)atC>atT	p.I1442I	NRXN1_ENST00000401669.2_Silent_p.I1472I|NRXN1_ENST00000402717.3_Silent_p.I1464I|NRXN1_ENST00000404971.1_Silent_p.I1512I|NRXN1_ENST00000405472.3_Silent_p.I1464I|NRXN1_ENST00000342183.5_Silent_p.I407I|NRXN1_ENST00000406859.3_Silent_p.I1442I|NRXN1_ENST00000401710.1_Silent_p.I460I	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1442					adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTGAGTTACTGATGTAGTTTC	0.463																																						uc010fbp.2		NA																	0				ovary(2)	2						c.(1219-1221)ATC>ATT		neurexin 1 isoform beta precursor							231.0	188.0	202.0					2																	50149190		2203	4300	6503	SO:0001819	synonymous_variant	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50149190G>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.4326C>T	2.37:g.50149190G>A						NRXN1_uc002rxb.3_Silent_p.I1141I|NRXN1_uc010fbq.2_Silent_p.I1512I|NRXN1_uc002rxe.3_Silent_p.I1442I|NRXN1_uc010yon.1_Silent_p.I107I|NRXN1_uc002rxa.3_Silent_p.I104I	p.I407I	NM_138735	NP_620072	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		6	2028	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	407			Cytoplasmic (Potential).		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	c.1221C>T	CCDS54360.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.776|4.776	0.144318|0.144318	0.09134|0.09134	.|.	.|.	ENSG00000179915|ENSG00000179915	ENST00000378262|ENST00000412315	.|.	.|.	.|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	.|.	.|.	.|.	.|.	.|T	.|0.75332	.|0.3835	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72690	.|-0.4217	.|4	.|.	.|.	.|.	.|.	19.4586|19.4586	0.94906|0.94906	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	109|175	.|.	.|.	Q|S	-|-	1|2	0|0	NRXN1|NRXN1	50002694|50002694	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.620000|4.620000	0.61226|0.61226	2.828000|2.828000	0.97474|0.97474	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.463	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			13	137	0	0	0	0	13	137				
NRXN1	9378	broad.mit.edu	37	2	50280582	50280582	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:50280582C>T	ENST00000406316.2	-	20	5341	c.3865G>A	c.(3865-3867)Gcc>Acc	p.A1289T	NRXN1_ENST00000401669.2_Missense_Mutation_p.A1319T|NRXN1_ENST00000402717.3_Missense_Mutation_p.A1311T|NRXN1_ENST00000404971.1_Missense_Mutation_p.A1359T|NRXN1_ENST00000405472.3_Missense_Mutation_p.A1311T|NRXN1_ENST00000342183.5_Missense_Mutation_p.A254T|NRXN1_ENST00000406859.3_Missense_Mutation_p.A1289T|NRXN1_ENST00000401710.1_Missense_Mutation_p.A307T	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1289	Laminin G-like 6. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CCCACTATGGCGATGTTGGCA	0.507																																						uc010fbp.2		NA																	0				ovary(2)	2						c.(760-762)GCC>ACC		neurexin 1 isoform beta precursor							142.0	119.0	127.0					2																	50280582		2203	4300	6503	SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50280582C>T	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.3865G>A	2.37:g.50280582C>T	ENSP00000384311:p.Ala1289Thr					NRXN1_uc002rxb.3_Missense_Mutation_p.A991T|NRXN1_uc010fbq.2_Missense_Mutation_p.A1359T|NRXN1_uc002rxe.3_Missense_Mutation_p.A1289T	p.A254T	NM_138735	NP_620072	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		4	1567	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	254			Extracellular (Potential).|Laminin G-like.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.760G>A	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.064993	0.36470	.	.	ENSG00000179915	ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T;T;T	0.69561	1.01;2.24;0.3;0.22;-0.41;-0.3;-0.01;0.09	5.65	4.78	0.61160	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.933113	0.08632	U	0.916882	T	0.43567	0.1253	N	0.11064	0.09	0.20196	N	0.99993	B;P;B;B	0.34757	0.009;0.467;0.067;0.024	B;B;B;B	0.15052	0.008;0.012;0.008;0.004	T	0.08932	-1.0698	10	0.16420	T	0.52	.	12.6556	0.56786	0.0:0.8622:0.0:0.1378	.	1359;254;1289;1311	Q9ULB1-3;P58400;F8WB18;A7E294	.;NRX1B_HUMAN;.;.	T	254;208;307;1359;1289;1311;1319;1360;1311;1289	ENSP00000341184:A254T;ENSP00000385580:A307T;ENSP00000385142:A1359T;ENSP00000384311:A1289T;ENSP00000434015:A1311T;ENSP00000385017:A1319T;ENSP00000385434:A1311T;ENSP00000385681:A1289T	ENSP00000341184:A254T	A	-	1	0	NRXN1	50134086	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.829000	0.39121	1.388000	0.46506	0.655000	0.94253	GCC		0.507	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			13	142	0	0	0	0	13	142				
CHAC2	494143	broad.mit.edu	37	2	53995077	53995077	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:53995077G>C	ENST00000295304.4	+	1	149	c.54G>C	c.(52-54)caG>caC	p.Q18H	GPR75-ASB3_ENST00000482829.1_Intron|GPR75-ASB3_ENST00000406687.1_Intron|GPR75-ASB3_ENST00000263634.3_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000394717.2_Intron|ASB3_ENST00000406625.2_Intron	NM_001008708.2	NP_001008708.1	Q8WUX2	CHAC2_HUMAN	ChaC, cation transport regulator homolog 2 (E. coli)	18										endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCCCCTATCAGGACAAGCTGG	0.627											OREG0014616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002rxk.1		NA																	0					0						c.(52-54)CAG>CAC		ChaC, cation transport regulator-like 2							95.0	92.0	93.0					2																	53995077		2203	4300	6503	SO:0001583	missense	494143							g.chr2:53995077G>C	BC025376	CCDS33196.1	2p16	2013-09-12	2006-09-12		ENSG00000143942	ENSG00000143942			32363	protein-coding gene	gene with protein product	"""gamma-GCT acting on glutathione homolog 2"""		"""ChaC, cation transport regulator-like 2 (E. coli)"""			23070364	Standard	NM_001008708		Approved		uc002rxk.1	Q8WUX2	OTTHUMG00000151824	ENST00000295304.4:c.54G>C	2.37:g.53995077G>C	ENSP00000295304:p.Gln18His		OREG0014616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	996	ASB3_uc002rxg.1_Intron|ASB3_uc002rxh.1_Intron|ASB3_uc002rxi.3_Intron|ASB3_uc010yoo.1_Intron	p.Q18H	NM_001008708	NP_001008708	Q8WUX2	CHAC2_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		1	149	+			18					Q8WVI8	Missense_Mutation	SNP	ENST00000295304.4	37	c.54G>C	CCDS33196.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.660690	0.88154	.	.	ENSG00000143942	ENST00000295304	T	0.37235	1.21	5.38	5.38	0.77491	Butirosin biosynthesis, BtrG-like (1);	0.336615	0.31660	N	0.007275	T	0.36580	0.0972	L	0.42245	1.32	0.49915	D	0.999836	B	0.17852	0.024	B	0.22386	0.039	T	0.09684	-1.0663	10	0.44086	T	0.13	-9.1754	19.1236	0.93374	0.0:0.0:1.0:0.0	.	18	Q8WUX2	CHAC2_HUMAN	H	18	ENSP00000295304:Q18H	ENSP00000295304:Q18H	Q	+	3	2	CHAC2	53848581	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.333000	0.72939	2.523000	0.85059	0.591000	0.81541	CAG		0.627	CHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324072.1	NM_001008708		4	40	0	0	0	0	4	40				
SPTBN1	6711	broad.mit.edu	37	2	54856884	54856884	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:54856884G>A	ENST00000356805.4	+	14	2894	c.2613G>A	c.(2611-2613)tgG>tgA	p.W871*	SPTBN1_ENST00000333896.5_Nonsense_Mutation_p.W858*	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	871					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AGGAGCAGTGGCTCAACAACA	0.602																																						uc002rxu.2		NA																	0				ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8						c.(2611-2613)TGG>TGA		spectrin, beta, non-erythrocytic 1 isoform 1							41.0	40.0	40.0					2																	54856884		2203	4300	6503	SO:0001587	stop_gained	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54856884G>A		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.2613G>A	2.37:g.54856884G>A	ENSP00000349259:p.Trp871*					SPTBN1_uc002rxv.1_Nonsense_Mutation_p.W871*|SPTBN1_uc002rxx.2_Nonsense_Mutation_p.W858*	p.W871*	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Lung(47;0.24)		14	2862	+			871			Spectrin 6.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Nonsense_Mutation	SNP	ENST00000356805.4	37	c.2613G>A	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	G	42	9.744830	0.99253	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.7768	0.96398	0.0:0.0:1.0:0.0	.	.	.	.	X	871;858	.	ENSP00000334156:W858X	W	+	3	0	SPTBN1	54710388	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.807000	0.99171	2.698000	0.92095	0.650000	0.86243	TGG		0.602	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			6	78	0	0	0	0	6	78				
VAX2	25806	broad.mit.edu	37	2	71148327	71148327	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:71148327G>A	ENST00000234392.2	+	2	379	c.347G>A	c.(346-348)cGc>cAc	p.R116H		NM_012476.2	NP_036608.1	Q9UIW0	VAX2_HUMAN	ventral anterior homeobox 2	116					axonogenesis (GO:0007409)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic eye morphogenesis (GO:0048048)|forebrain development (GO:0030900)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	7						CAGCTGTACCGCCTGGAGATG	0.622																																						uc002shh.2		NA																	0					0						c.(346-348)CGC>CAC		ventral anterior homeobox 2							48.0	46.0	47.0					2																	71148327		2203	4300	6503	SO:0001583	missense	25806				ectoderm development|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:71148327G>A	Y17791	CCDS1911.1	2p13.3	2011-06-20			ENSG00000116035	ENSG00000116035		"""Homeoboxes / ANTP class : NKL subclass"""	12661	protein-coding gene	gene with protein product		604295				10485894	Standard	NM_012476		Approved	DRES93	uc002shh.3	Q9UIW0	OTTHUMG00000129714	ENST00000234392.2:c.347G>A	2.37:g.71148327G>A	ENSP00000234392:p.Arg116His						p.R116H	NM_012476	NP_036608	Q9UIW0	VAX2_HUMAN			2	379	+			116			Homeobox.		Q53Y33	Missense_Mutation	SNP	ENST00000234392.2	37	c.347G>A	CCDS1911.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.549176	0.86127	.	.	ENSG00000116035	ENST00000234392	D	0.96232	-3.95	5.43	5.43	0.79202	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.95614	0.8574	M	0.71296	2.17	0.80722	D	1	B	0.32573	0.376	B	0.33690	0.168	D	0.95385	0.8476	10	0.87932	D	0	-19.0239	16.752	0.85488	0.0:0.0:1.0:0.0	.	116	Q9UIW0	VAX2_HUMAN	H	116	ENSP00000234392:R116H	ENSP00000234392:R116H	R	+	2	0	VAX2	71001835	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.163000	0.71880	2.547000	0.85894	0.655000	0.94253	CGC		0.622	VAX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251923.1			9	68	0	0	0	0	9	68				
WDR54	84058	broad.mit.edu	37	2	74653396	74653396	+	IGR	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:74653396G>A	ENST00000348227.4	+	0	1147				RTKN_ENST00000305557.5_Missense_Mutation_p.R543C|RTKN_ENST00000272430.5_Missense_Mutation_p.R556C|RTKN_ENST00000233330.6_Missense_Mutation_p.R506C	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54											breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						AGCCAAGTGCGAGGTTGGCCT	0.622																																						uc002sle.2		NA																	0				skin(1)	1						c.(1666-1668)CGC>TGC		rhotekin isoform a							104.0	115.0	111.0					2																	74653396		2203	4300	6503	SO:0001628	intergenic_variant	6242				apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity	g.chr2:74653396G>A	AK023015	CCDS1940.1	2p13.1	2013-01-09			ENSG00000005448	ENSG00000005448		"""WD repeat domain containing"""	25770	protein-coding gene	gene with protein product						12477932	Standard	NM_032118		Approved	FLJ12953	uc002slb.3	Q9H977	OTTHUMG00000129951		2.37:g.74653396G>A						RTKN_uc002slc.2_Missense_Mutation_p.R543C|RTKN_uc002sld.2_Missense_Mutation_p.R506C	p.R556C	NM_001015055	NP_001015055	Q9BST9	RTKN_HUMAN			12	1783	-			556					D6W5I3|Q53H85|Q86V45	Missense_Mutation	SNP	ENST00000348227.4	37	c.1666C>T	CCDS1940.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.331742	0.41297	.	.	ENSG00000114993	ENST00000305557;ENST00000272430;ENST00000233330	T;T;T	0.36699	1.24;1.24;1.25	5.0	1.07	0.20283	.	0.270137	0.34700	N	0.003760	T	0.21962	0.0529	N	0.19112	0.55	0.09310	N	1	D;P	0.55385	0.971;0.941	B;B	0.43052	0.23;0.406	T	0.13845	-1.0494	10	0.62326	D	0.03	.	7.9225	0.29854	0.0:0.2904:0.4103:0.2994	.	556;543	Q9BST9;Q9BST9-2	RTKN_HUMAN;.	C	543;556;506	ENSP00000305298:R543C;ENSP00000272430:R556C;ENSP00000233330:R506C	ENSP00000233330:R506C	R	-	1	0	RTKN	74506904	0.753000	0.28349	0.000000	0.03702	0.841000	0.47740	0.493000	0.22451	0.086000	0.17137	0.655000	0.94253	CGC		0.622	WDR54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252213.1	NM_032118		34	320	0	0	0	0	34	320				
LBX2	85474	broad.mit.edu	37	2	74725408	74725408	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:74725408G>A	ENST00000377566.4	-	2	421	c.243C>T	c.(241-243)ttC>ttT	p.F81F	LBX2_ENST00000550249.1_5'UTR|LBX2_ENST00000460508.3_Silent_p.F77F|AC005041.17_ENST00000479098.1_RNA|LBX2_ENST00000341396.2_Missense_Mutation_p.S21L	NM_001282430.1	NP_001269359.1	Q6XYB7	LBX2_HUMAN	ladybird homeobox 2	81					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)	4						GTTTGCGGCCGAAGGGACCAG	0.667																																						uc002slv.3		NA																	0					0						c.(241-243)TTC>TTT		ladybird homeobox 2							10.0	11.0	10.0					2																	74725408		2149	4224	6373	SO:0001819	synonymous_variant	85474					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:74725408G>A	AC005041	CCDS33228.1, CCDS62938.1	2p13.1	2014-05-06	2007-02-15		ENSG00000179528	ENSG00000179528		"""Homeoboxes / ANTP class : NKL subclass"""	15525	protein-coding gene	gene with protein product		607164	"""ladybird homeobox homolog 2 (Drosophila)"""			11386758	Standard	NM_001282430		Approved		uc002slw.3	Q6XYB7	OTTHUMG00000170595	ENST00000377566.4:c.243C>T	2.37:g.74725408G>A						LBX2_uc002slw.2_Silent_p.F77F	p.F81F	NM_001009812	NP_001009812	Q6XYB7	LBX2_HUMAN			2	248	-			81					Q7Z5Y8	Silent	SNP	ENST00000377566.4	37	c.243C>T		.	.	.	.	.	.	.	.	.	.	G	14.45	2.539247	0.45176	.	.	ENSG00000179528	ENST00000341396	.	.	.	4.19	-8.39	0.00969	.	.	.	.	.	T	0.38772	0.1053	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.55049	-0.8201	5	0.87932	D	0	.	9.8967	0.41322	0.3331:0.537:0.1298:0.0	.	.	.	.	L	21	.	ENSP00000450229:S21L	S	-	2	0	LBX2	74578916	0.000000	0.05858	0.001000	0.08648	0.486000	0.33341	-1.371000	0.02573	-2.149000	0.00797	0.561000	0.74099	TCG		0.667	LBX2-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328490.1	NM_001009812		6	14	0	0	0	0	6	14				
DQX1	165545	broad.mit.edu	37	2	74756406	74756406	+	5'Flank	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:74756406G>A	ENST00000404568.3	-	0	0				HTRA2_ENST00000258080.3_5'Flank|HTRA2_ENST00000352222.3_5'Flank|AUP1_ENST00000377526.3_Silent_p.F64F	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1							nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						TCCGCACTACGAATCTGGGGA	0.637																																						uc010yry.1		NA																	0					0						c.(190-192)TTC>TTT		SubName: Full=cDNA FLJ58836, highly similar to Ancient ubiquitous protein 1;							36.0	41.0	39.0					2																	74756406		2124	4228	6352	SO:0001631	upstream_gene_variant	550					endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding	g.chr2:74756406G>A	AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"""DEAQ box polypeptide 1 (RNA-dependent ATPase)"""				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965		2.37:g.74756406G>A	Exception_encountered					DQX1_uc010yrw.1_5'Flank|AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_Silent_p.F64F|AUP1_uc002smg.2_RNA|AUP1_uc002smh.2_5'UTR|AUP1_uc010yrx.1_Silent_p.F121F|HTRA2_uc002smi.1_5'Flank|HTRA2_uc002smj.1_5'Flank|HTRA2_uc002smk.1_5'Flank|HTRA2_uc002sml.1_5'Flank|HTRA2_uc002smm.1_5'Flank|HTRA2_uc002smn.1_5'Flank|HTRA2_uc010ffl.2_5'Flank	p.F64F			Q9Y679	AUP1_HUMAN			3	410	-			64			Cytoplasmic (Potential).		Q6B017|Q8NAM8	Silent	SNP	ENST00000404568.3	37	c.192C>T	CCDS1949.2																																																																																				0.637	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637		5	58	0	0	0	0	5	58				
HTRA2	27429	broad.mit.edu	37	2	74758074	74758074	+	Missense_Mutation	SNP	G	G	A	rs142306682		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:74758074G>A	ENST00000258080.3	+	3	1378	c.748G>A	c.(748-750)Gat>Aat	p.D250N	HTRA2_ENST00000352222.3_Intron|HTRA2_ENST00000467961.1_3'UTR|AUP1_ENST00000377526.3_5'Flank	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	250	Serine protease.				adult walking behavior (GO:0007628)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|ceramide metabolic process (GO:0006672)|execution phase of apoptosis (GO:0097194)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitochondrion organization (GO:0007005)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|pentacyclic triterpenoid metabolic process (GO:0019742)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell death (GO:0010942)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of mitochondrion degradation (GO:1903146)|regulation of multicellular organism growth (GO:0040014)|response to herbicide (GO:0009635)	CD40 receptor complex (GO:0035631)|chromatin (GO:0000785)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)|unfolded protein binding (GO:0051082)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						ACGCTCAGCTGATGTCCGGCA	0.552																																						uc002smi.1		NA																	0				ovary(1)	1						c.(748-750)GAT>AAT		HtrA serine peptidase 2 isoform 1 preproprotein		G	ASN/ASP,	0,4406		0,0,2203	196.0	203.0	201.0		748,	4.6	1.0	2	dbSNP_134	201	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron	HTRA2	NM_013247.4,NM_145074.2	23,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,	250/459,	74758074	1,13005	2203	4300	6503	SO:0001583	missense	27429				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding	g.chr2:74758074G>A		CCDS1951.1, CCDS1952.1	2p13.1	2011-07-21	2005-08-19	2005-08-19	ENSG00000115317	ENSG00000115317		"""Serine peptidases / Serine peptidases"", ""Parkinson disease"""	14348	protein-coding gene	gene with protein product		606441	"""protease, serine, 25"""	PRSS25		10644717, 10971580	Standard	XM_005264266		Approved	OMI, PARK13	uc002smi.1	O43464	OTTHUMG00000129957	ENST00000258080.3:c.748G>A	2.37:g.74758074G>A	ENSP00000258080:p.Asp250Asn					AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_5'Flank|AUP1_uc002smg.2_5'Flank|AUP1_uc002smh.2_5'Flank|AUP1_uc010yrx.1_5'Flank|AUP1_uc010yry.1_5'Flank|HTRA2_uc002smj.1_Intron|HTRA2_uc002smk.1_Missense_Mutation_p.D250N|HTRA2_uc002sml.1_Missense_Mutation_p.D250N|HTRA2_uc002smm.1_5'UTR|HTRA2_uc002smn.1_5'UTR|HTRA2_uc010ffl.2_5'UTR	p.D250N	NM_013247	NP_037379	O43464	HTRA2_HUMAN			3	1350	+			250			Serine protease.		Q9HBZ4|Q9P0Y3|Q9P0Y4	Missense_Mutation	SNP	ENST00000258080.3	37	c.748G>A	CCDS1951.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.448304	0.63178	0.0	1.16E-4	ENSG00000115317	ENST00000258080;ENST00000437202	D;D	0.88354	-2.37;-2.37	4.64	4.64	0.57946	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (2);	0.212494	0.48767	D	0.000172	D	0.86594	0.5970	L	0.27944	0.81	0.80722	D	1	P;P;P	0.45634	0.863;0.835;0.863	P;P;P	0.49953	0.601;0.571;0.627	D	0.85542	0.1216	10	0.33940	T	0.23	-13.0826	15.3795	0.74641	0.0:0.0:1.0:0.0	.	250;250;250	A8K7G2;O43464-3;O43464	.;.;HTRA2_HUMAN	N	250;237	ENSP00000258080:D250N;ENSP00000399166:D237N	ENSP00000258080:D250N	D	+	1	0	HTRA2	74611582	1.000000	0.71417	0.953000	0.39169	0.669000	0.39330	7.666000	0.83877	2.584000	0.87258	0.462000	0.41574	GAT		0.552	HTRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252219.2	NM_013247		35	486	0	0	0	0	35	486				
CTNNA2	1496	broad.mit.edu	37	2	80136879	80136879	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:80136879G>A	ENST00000402739.4	+	6	1017	c.1012G>A	c.(1012-1014)Gtg>Atg	p.V338M	CTNNA2_ENST00000541047.1_Missense_Mutation_p.V338M|CTNNA2_ENST00000466387.1_Missense_Mutation_p.V338M|CTNNA2_ENST00000496558.1_Missense_Mutation_p.V338M|CTNNA2_ENST00000361291.4_Missense_Mutation_p.V372M|CTNNA2_ENST00000540488.1_Missense_Mutation_p.V338M	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	338					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.V338M(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GTGCAACGCCGTGCGGCAGGC	0.597																																						uc010ysh.1		NA																	2	Substitution - Missense(2)		large_intestine(2)	pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(1012-1014)GTG>ATG		catenin, alpha 2 isoform 1							43.0	50.0	48.0					2																	80136879		2087	4229	6316	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80136879G>A		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1012G>A	2.37:g.80136879G>A	ENSP00000384638:p.Val338Met					CTNNA2_uc010yse.1_Missense_Mutation_p.V338M|CTNNA2_uc010ysf.1_Missense_Mutation_p.V338M|CTNNA2_uc010ysg.1_Missense_Mutation_p.V338M	p.V338M	NM_004389	NP_004380	P26232	CTNA2_HUMAN			6	1017	+			338					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.1012G>A		.	.	.	.	.	.	.	.	.	.	G	33	5.255998	0.95336	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04;1.04	5.6	5.6	0.85130	.	0.077367	0.51477	D	0.000082	T	0.70386	0.3218	M	0.85630	2.765	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.79108	0.992;0.965;0.94	T	0.74819	-0.3535	10	0.87932	D	0	.	19.6081	0.95588	0.0:0.0:1.0:0.0	.	338;338;338	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	M	338;338;372;338;338;338	ENSP00000418191:V338M;ENSP00000419295:V338M;ENSP00000355398:V372M;ENSP00000384638:V338M;ENSP00000444675:V338M;ENSP00000441705:V338M	ENSP00000355398:V372M	V	+	1	0	CTNNA2	79990390	1.000000	0.71417	0.972000	0.41901	0.996000	0.88848	9.803000	0.99136	2.652000	0.90054	0.591000	0.81541	GTG		0.597	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		11	92	0	0	0	0	11	92				
TGFBRAP1	9392	broad.mit.edu	37	2	105889405	105889405	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:105889405C>T	ENST00000393359.2	-	10	2305	c.1879G>A	c.(1879-1881)Gcc>Acc	p.A627T	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.A627T			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	627					intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						TTGCCACTGGCGGAGGCCCTC	0.577																																					Esophageal Squamous(183;794 2019 9730 21801 48859)	uc002tcq.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1879-1881)GCC>ACC		transforming growth factor, beta receptor							60.0	62.0	61.0					2																	105889405		2203	4300	6503	SO:0001583	missense	9392				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding	g.chr2:105889405C>T	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.1879G>A	2.37:g.105889405C>T	ENSP00000377027:p.Ala627Thr					TGFBRAP1_uc010fjc.2_Missense_Mutation_p.A396T|TGFBRAP1_uc002tcr.3_Missense_Mutation_p.A627T	p.A627T	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN			10	1963	-			627					A8K5R7|D3DVJ8|O60466	Missense_Mutation	SNP	ENST00000393359.2	37	c.1879G>A	CCDS2067.1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.557140	0.00910	.	.	ENSG00000135966	ENST00000393359;ENST00000258449;ENST00000543724	T;T	0.46063	0.88;0.88	5.39	-2.49	0.06403	.	0.807327	0.12173	N	0.492846	T	0.18593	0.0446	N	0.11892	0.195	0.09310	N	1	B;B	0.14012	0.009;0.002	B;B	0.12837	0.008;0.004	T	0.24119	-1.0169	10	0.15066	T	0.55	-0.1844	5.9335	0.19152	0.1953:0.3994:0.0:0.4053	.	82;627	B3KMM9;Q8WUH2	.;TGFA1_HUMAN	T	627;627;82	ENSP00000377027:A627T;ENSP00000258449:A627T	ENSP00000258449:A627T	A	-	1	0	TGFBRAP1	105255837	0.000000	0.05858	0.000000	0.03702	0.084000	0.17831	-1.489000	0.02306	-1.386000	0.02098	-1.151000	0.01829	GCC		0.577	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257		12	71	0	0	0	0	12	71				
GCC2	9648	broad.mit.edu	37	2	109111839	109111839	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:109111839G>C	ENST00000309863.6	+	20	5254	c.4540G>C	c.(4540-4542)Gag>Cag	p.E1514Q		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1514					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AACCCGGGAAGAGGGAGAAGG	0.483																																						uc002tec.2		NA																	0				ovary(1)	1						c.(4540-4542)GAG>CAG		GRIP and coiled-coil domain-containing 2							27.0	32.0	30.0					2																	109111839		1344	2277	3621	SO:0001583	missense	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109111839G>C	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.4540G>C	2.37:g.109111839G>C	ENSP00000307939:p.Glu1514Gln					GCC2_uc002ted.2_Missense_Mutation_p.E1413Q	p.E1514Q	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN			20	4694	+			1514			Potential.		A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	c.4540G>C	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.554636	0.65425	.	.	ENSG00000135968	ENST00000309863	T	0.37411	1.2	5.51	4.63	0.57726	.	0.051075	0.85682	D	0.000000	T	0.40067	0.1102	M	0.70595	2.14	0.51012	D	0.999904	B	0.33318	0.408	B	0.33254	0.16	T	0.27191	-1.0081	10	0.27082	T	0.32	.	16.7018	0.85351	0.0:0.1297:0.8703:0.0	.	1514	Q8IWJ2	GCC2_HUMAN	Q	1514	ENSP00000307939:E1514Q	ENSP00000307939:E1514Q	E	+	1	0	GCC2	108478271	1.000000	0.71417	0.994000	0.49952	0.974000	0.67602	7.451000	0.80668	1.453000	0.47775	0.555000	0.69702	GAG		0.483	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		8	77	0	0	0	0	8	77				
RANBP2	5903	broad.mit.edu	37	2	109383191	109383191	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:109383191G>A	ENST00000283195.6	+	20	6322	c.6196G>A	c.(6196-6198)Gag>Aag	p.E2066K		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2066	RanBD1 2. {ECO:0000255|PROSITE- ProRule:PRU00164}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TCTCAAAAACGAGGTCAATGG	0.398																																						uc002tem.3		NA																RANBP2/ALK(16)	0				soft_tissue(16)|lung(1)|pancreas(1)	18						c.(6196-6198)GAG>AAG		RAN binding protein 2							159.0	184.0	176.0					2																	109383191		2201	4279	6480	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109383191G>A	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.6196G>A	2.37:g.109383191G>A	ENSP00000283195:p.Glu2066Lys						p.E2066K	NM_006267	NP_006258	P49792	RBP2_HUMAN			20	6322	+			2066			RanBD1 2.		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.6196G>A	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	10.44	1.350947	0.24512	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.37235	1.21	5.65	5.65	0.86999	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.11410	0.0278	N	0.00193	-1.875	0.27407	N	0.954683	B	0.34399	0.452	B	0.32090	0.14	T	0.11542	-1.0583	9	0.11182	T	0.66	-35.1005	19.718	0.96131	0.0:0.0:1.0:0.0	.	2066	P49792	RBP2_HUMAN	K	1090;2066	ENSP00000283195:E2066K	ENSP00000283195:E2066K	E	+	1	0	RANBP2	108749623	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.229000	0.51278	2.653000	0.90120	0.557000	0.71058	GAG		0.398	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		68	639	0	0	0	0	68	639				
UGGT1	56886	broad.mit.edu	37	2	128935448	128935448	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:128935448G>C	ENST00000259253.6	+	33	3714	c.3667G>C	c.(3667-3669)Gat>Cat	p.D1223H	UGGT1_ENST00000375990.3_Missense_Mutation_p.D1199H	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1223					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CTTGCTGAGTGATGGAACGAG	0.388																																						uc002tps.2		NA																	0				ovary(1)	1						c.(3667-3669)GAT>CAT		UDP-glucose ceramide glucosyltransferase-like 1							314.0	285.0	295.0					2																	128935448		2203	4300	6503	SO:0001583	missense	56886				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	g.chr2:128935448G>C	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.3667G>C	2.37:g.128935448G>C	ENSP00000259253:p.Asp1223His					UGGT1_uc002tpr.2_Missense_Mutation_p.D1199H	p.D1223H	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN			33	3845	+			1223					Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	c.3667G>C	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.932772	0.92458	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.09723	2.96;2.95	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.39279	0.1072	M	0.87682	2.9	0.80722	D	1	D	0.69078	0.997	D	0.63192	0.912	T	0.24764	-1.0151	9	.	.	.	.	20.1027	0.97880	0.0:0.0:1.0:0.0	.	1223	Q9NYU2	UGGG1_HUMAN	H	1199;1223	ENSP00000365158:D1199H;ENSP00000259253:D1223H	.	D	+	1	0	UGGT1	128651918	1.000000	0.71417	0.996000	0.52242	0.956000	0.61745	9.439000	0.97543	2.756000	0.94617	0.655000	0.94253	GAT		0.388	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		16	173	0	0	0	0	16	173				
ARHGEF4	50649	broad.mit.edu	37	2	131803638	131803638	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:131803638G>A	ENST00000326016.5	+	14	2468	c.1949G>A	c.(1948-1950)cGc>cAc	p.R650H	ARHGEF4_ENST00000525839.1_3'UTR|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.R590H|ARHGEF4_ENST00000428230.2_Missense_Mutation_p.R152H|ARHGEF4_ENST00000392953.3_3'UTR|ARHGEF4_ENST00000355771.3_Missense_Mutation_p.R579H	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	650					apoptotic signaling pathway (GO:0097190)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein domain specific binding (GO:0019904)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		TACCTGACGCGCCAGAAGCAC	0.667																																						uc002tsa.1		NA																	0				breast(3)|ovary(2)|skin(1)	6						c.(1948-1950)CGC>CAC		Rho guanine nucleotide exchange factor 4 isoform							53.0	64.0	61.0					2																	131803638		2203	4300	6503	SO:0001583	missense	50649				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity	g.chr2:131803638G>A	AL137289	CCDS2165.1, CCDS42754.1	2q22	2013-01-10			ENSG00000136002	ENSG00000136002		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	684	protein-coding gene	gene with protein product	"""APC-stimulated guanine nucleotide exchange factor"""	605216				10873612	Standard	NM_015320		Approved	STM6, KIAA1112, ASEF	uc002tsa.1	Q9NR80	OTTHUMG00000131657	ENST00000326016.5:c.1949G>A	2.37:g.131803638G>A	ENSP00000316845:p.Arg650His					ARHGEF4_uc010fmw.1_Missense_Mutation_p.R798H|ARHGEF4_uc002tsb.1_3'UTR|ARHGEF4_uc010fmx.1_Missense_Mutation_p.R590H|ARHGEF4_uc002tsc.1_Missense_Mutation_p.R193H	p.R650H	NM_015320	NP_056135	Q9NR80	ARHG4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.097)	14	2469	+		Prostate(154;0.055)	650					Q9HDC6|Q9UPP0	Missense_Mutation	SNP	ENST00000326016.5	37	c.1949G>A	CCDS2165.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.215228	0.39102	.	.	ENSG00000136002	ENST00000326016;ENST00000438985;ENST00000428230;ENST00000409303;ENST00000355771	T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31	5.71	4.83	0.62350	.	0.064338	0.64402	D	0.000006	T	0.19685	0.0473	N	0.16790	0.44	0.80722	D	1	B;B	0.20459	0.045;0.045	B;B	0.12837	0.008;0.008	T	0.07501	-1.0769	10	0.13470	T	0.59	.	8.7922	0.34857	0.1698:0.0:0.8302:0.0	.	590;650	E9PEM0;Q9NR80	.;ARHG4_HUMAN	H	650;332;152;590;579	ENSP00000316845:R650H;ENSP00000389661:R332H;ENSP00000398455:R152H;ENSP00000387285:R590H;ENSP00000348017:R579H	ENSP00000316845:R650H	R	+	2	0	ARHGEF4	131520108	0.882000	0.30256	0.977000	0.42913	0.951000	0.60555	1.671000	0.37513	1.420000	0.47138	0.462000	0.41574	CGC		0.667	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254554.4			17	186	0	0	0	0	17	186				
MAP3K19	80122	broad.mit.edu	37	2	135745629	135745629	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:135745629C>T	ENST00000375845.3	-	7	843	c.813G>A	c.(811-813)tcG>tcA	p.S271S	MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Silent_p.S158S|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Silent_p.S288S|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	271							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										GATCCATCAACGACTTAACTA	0.483																																						uc002tue.1		NA																	0				stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5						c.(811-813)TCG>TCA		Yeast Sps1/Ste20-related kinase 4 isoform 1							87.0	90.0	89.0					2																	135745629		2203	4300	6503	SO:0001819	synonymous_variant	80122						ATP binding|protein serine/threonine kinase activity	g.chr2:135745629C>T	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.813G>A	2.37:g.135745629C>T						YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Silent_p.S158S|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_5'UTR|YSK4_uc002tui.3_Silent_p.S288S	p.S271S	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	7	844	-			271					B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Silent	SNP	ENST00000375845.3	37	c.813G>A	CCDS2176.2																																																																																				0.483	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		23	151	0	0	0	0	23	151				
LRP1B	53353	broad.mit.edu	37	2	141625775	141625775	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:141625775C>T	ENST00000389484.3	-	26	5198	c.4227G>A	c.(4225-4227)atG>atA	p.M1409I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1409					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)			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)		CAGCACCACTCATAGAGGCAG	0.373										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(4225-4227)ATG>ATA		low density lipoprotein-related protein 1B							98.0	93.0	95.0					2																	141625775		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141625775C>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.4227G>A	2.37:g.141625775C>T	ENSP00000374135:p.Met1409Ile	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Missense_Mutation_p.M591I	p.M1409I	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)	26	5199	-		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)	1409			Extracellular (Potential).|LDL-receptor class B 11.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.4227G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.254502	0.80135	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.96265	-3.96;-3.96	5.83	5.83	0.93111	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.98717	0.9569	M	0.94063	3.49	0.80722	D	1	P;D	0.59357	0.831;0.985	P;D	0.72338	0.643;0.977	D	0.99170	1.0864	10	0.87932	D	0	.	20.1338	0.98010	0.0:1.0:0.0:0.0	.	592;1409	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	I	1409;1347;554	ENSP00000374135:M1409I;ENSP00000413239:M554I	ENSP00000374135:M1409I	M	-	3	0	LRP1B	141342245	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.723000	0.84788	2.770000	0.95276	0.655000	0.94253	ATG		0.373	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		10	116	0	0	0	0	10	116				
KYNU	8942	broad.mit.edu	37	2	143676239	143676239	+	Silent	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:143676239C>A	ENST00000410015.2	+	3	321	c.231C>A	c.(229-231)ggC>ggA	p.G77G	KYNU_ENST00000264170.4_Silent_p.G77G|KYNU_ENST00000375773.2_Silent_p.G77G|KYNU_ENST00000409512.1_Silent_p.G77G					kynureninase											large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		ATTCTCTTGGCCTTCAACCAA	0.279																																						uc002tvl.2		NA																	0				skin(2)	2						c.(229-231)GGC>GGA		kynureninase (L-kynurenine hydrolase) isoform a	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)						41.0	44.0	43.0					2																	143676239		2201	4291	6492	SO:0001819	synonymous_variant	8942				anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	g.chr2:143676239C>A	U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"""L-kynurenine hydrolase"""	605197	"""kynureninase (L-kynurenine hydrolase)"""			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000410015.2:c.231C>A	2.37:g.143676239C>A						KYNU_uc002tvk.2_Silent_p.G77G|KYNU_uc010fnm.2_Silent_p.G77G	p.G77G	NM_003937	NP_003928	Q16719	KYNU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.072)	3	361	+			77						Silent	SNP	ENST00000410015.2	37	c.231C>A																																																																																					0.279	KYNU-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000332172.2	NM_001032998		9	57	1	0	1.13e-05	1.18e-05	9	57				
SCN3A	6328	broad.mit.edu	37	2	166032878	166032878	+	Silent	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:166032878T>C	ENST00000360093.3	-	3	518	c.27A>G	c.(25-27)ccA>ccG	p.P9P	SCN3A_ENST00000409101.3_Silent_p.P9P|SCN3A_ENST00000283254.7_Silent_p.P9P	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	9					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTTCAGGTCCTGGGGGTACCA	0.423																																						uc002ucx.2		NA																	0				ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(25-27)CCA>CCG		sodium channel, voltage-gated, type III, alpha	Lamotrigine(DB00555)						106.0	105.0	106.0					2																	166032878		2203	4300	6503	SO:0001819	synonymous_variant	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166032878T>C	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.27A>G	2.37:g.166032878T>C						SCN3A_uc002ucy.2_Silent_p.P9P|SCN3A_uc002ucz.2_Silent_p.P9P	p.P9P	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN			3	519	-			9					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Silent	SNP	ENST00000360093.3	37	c.27A>G																																																																																					0.423	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		13	175	0	0	0	0	13	175				
FASTKD1	79675	broad.mit.edu	37	2	170428478	170428478	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:170428478A>C	ENST00000453153.2	-	2	408	c.62T>G	c.(61-63)aTt>aGt	p.I21S	FASTKD1_ENST00000453929.2_Missense_Mutation_p.I21S	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	21					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						GAATGGACAAATAGCTCTTAG	0.358																																						uc002uev.3		NA																	0				ovary(4)	4						c.(61-63)ATT>AGT		FAST kinase domains 1							61.0	60.0	60.0					2																	170428478		2203	4300	6503	SO:0001583	missense	79675				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr2:170428478A>C	AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.62T>G	2.37:g.170428478A>C	ENSP00000400513:p.Ile21Ser					FASTKD1_uc002uew.3_RNA|FASTKD1_uc002uex.3_Missense_Mutation_p.I7S|FASTKD1_uc002uey.2_Missense_Mutation_p.I7S	p.I21S	NM_024622	NP_078898	Q53R41	FAKD1_HUMAN			2	450	-			21					Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Missense_Mutation	SNP	ENST00000453153.2	37	c.62T>G	CCDS33318.1	.	.	.	.	.	.	.	.	.	.	A	9.747	1.166372	0.21621	.	.	ENSG00000138399	ENST00000453153;ENST00000453929;ENST00000438035;ENST00000445210	T;T	0.20332	2.08;2.09	5.07	1.41	0.22369	.	1.126810	0.06480	N	0.732641	T	0.24236	0.0587	M	0.63428	1.95	0.09310	N	1	B;B;B	0.29862	0.062;0.102;0.259	B;B;B	0.28139	0.039;0.086;0.055	T	0.33727	-0.9857	10	0.72032	D	0.01	-14.6729	8.5662	0.33540	0.6956:0.0:0.3044:0.0	.	21;21;21	D3DPC4;Q53R41-2;Q53R41	.;.;FAKD1_HUMAN	S	21	ENSP00000400513:I21S;ENSP00000403229:I21S	ENSP00000396769:I21S	I	-	2	0	FASTKD1	170136724	0.005000	0.15991	0.001000	0.08648	0.631000	0.37964	1.364000	0.34171	0.367000	0.24454	0.482000	0.46254	ATT		0.358	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337788.2	NM_024622		14	91	0	0	0	0	14	91				
PHOSPHO2	493911	broad.mit.edu	37	2	170558169	170558169	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:170558169G>C	ENST00000359744.3	+	4	1076	c.688G>C	c.(688-690)Gat>Cat	p.D230H	KLHL23_ENST00000272797.4_Intron|KLHL23_ENST00000602521.1_Intron	NM_001008489.3|NM_001199285.1|NM_001199286.1|NM_001199288.1	NP_001008489.1|NP_001186214.1|NP_001186215.1|NP_001186217.1	Q8TCD6	PHOP2_HUMAN	phosphatase, orphan 2	230							metal ion binding (GO:0046872)|pyridoxal phosphatase activity (GO:0033883)			breast(1)|large_intestine(1)|lung(6)|skin(2)	10						CTCAGGTGTTGATATAATTTC	0.338																																						uc002ufg.2		NA																	0				skin(1)	1						c.(688-690)GAT>CAT		phosphatase, orphan 2							39.0	40.0	40.0					2																	170558169		2203	4298	6501	SO:0001583	missense	493911						metal ion binding|pyridoxal phosphatase activity	g.chr2:170558169G>C	BC022324	CCDS33319.1	2q31.1	2008-02-05			ENSG00000144362	ENSG00000144362			28316	protein-coding gene	gene with protein product						16054448	Standard	NM_001199285		Approved	MGC22679	uc021vsh.1	Q8TCD6	OTTHUMG00000153981	ENST00000359744.3:c.688G>C	2.37:g.170558169G>C	ENSP00000352782:p.Asp230His					KLHL23_uc002ufh.1_Intron	p.D230H	NM_001008489	NP_001008489	Q8TCD6	PHOP2_HUMAN			4	1076	+			230					B2RC30|D3DPC7	Missense_Mutation	SNP	ENST00000359744.3	37	c.688G>C	CCDS33319.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.546969	0.65198	.	.	ENSG00000144362	ENST00000359744	T	0.51325	0.71	5.59	5.59	0.84812	HAD-like domain (1);	0.134780	0.48286	U	0.000182	T	0.52224	0.1721	L	0.46670	1.46	0.43971	D	0.996656	B	0.31026	0.304	B	0.39562	0.303	T	0.52845	-0.8521	10	0.62326	D	0.03	.	19.5882	0.95497	0.0:0.0:1.0:0.0	.	230	Q8TCD6	PHOP2_HUMAN	H	230	ENSP00000352782:D230H	ENSP00000352782:D230H	D	+	1	0	PHOSPHO2	170266415	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.601000	0.61090	2.632000	0.89209	0.655000	0.94253	GAT		0.338	PHOSPHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333304.1	NM_001008489		16	106	0	0	0	0	16	106				
ITGA4	3676	broad.mit.edu	37	2	182350666	182350666	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:182350666G>A	ENST00000397033.2	+	10	1530	c.1100G>A	c.(1099-1101)aGa>aAa	p.R367K		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	367					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	TATGCTGCAAGATTTGGGGAA	0.363																																						uc002unu.2		NA																	0				ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6						c.(1099-1101)AGA>AAA		integrin alpha 4 precursor	Natalizumab(DB00108)						175.0	164.0	167.0					2																	182350666		1858	4099	5957	SO:0001583	missense	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182350666G>A		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1100G>A	2.37:g.182350666G>A	ENSP00000380227:p.Arg367Lys					ITGA4_uc010zfl.1_Missense_Mutation_p.R367K	p.R367K	NM_000885	NP_000876	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		10	1863	+			367			FG-GAP 6.|Extracellular (Potential).		D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	c.1100G>A	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.947444	0.73672	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	T;T	0.24723	1.84;1.84	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.59998	0.2235	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	0.994;1.0	D;D	0.83275	0.95;0.996	T	0.63093	-0.6714	10	0.56958	D	0.05	.	20.1945	0.98239	0.0:0.0:1.0:0.0	.	367;367	E7EP60;P13612	.;ITA4_HUMAN	K	367	ENSP00000380227:R367K;ENSP00000233573:R367K	ENSP00000233573:R367K	R	+	2	0	ITGA4	182058911	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.005000	0.76323	2.768000	0.95171	0.585000	0.79938	AGA		0.363	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			16	140	0	0	0	0	16	140				
CASP8	841	broad.mit.edu	37	2	202141631	202141631	+	Missense_Mutation	SNP	C	C	T	rs17860424		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:202141631C>T	ENST00000432109.2	+	8	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	CASP8_ENST00000392258.3_Missense_Mutation_p.T226M|CASP8_ENST00000323492.7_Missense_Mutation_p.R233W|CASP8_ENST00000358485.4_Missense_Mutation_p.R307W|CASP8_ENST00000392259.2_Missense_Mutation_p.T226M|CASP8_ENST00000392266.3_Missense_Mutation_p.T211M|CASP8_ENST00000264275.5_Missense_Mutation_p.R265W|CASP8_ENST00000264274.9_Intron	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	248			R -> W (in CASP8D; dbSNP:rs17860424). {ECO:0000269|PubMed:12353035}.		activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TGCAAAAGCACGGGAGAAAGT	0.393										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	uc002uxr.1		NA																	0				upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5	GRCh37	CM023571	CASP8	M	rs17860424	c.(742-744)CGG>TGG		caspase 8 isoform B precursor							87.0	79.0	81.0					2																	202141631		2203	4300	6503	SO:0001583	missense	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding	g.chr2:202141631C>T	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.742C>T	2.37:g.202141631C>T	ENSP00000412523:p.Arg248Trp	HNSCC(4;0.00038)				CASP8_uc002uxo.1_Missense_Mutation_p.T226M|CASP8_uc002uxp.1_Missense_Mutation_p.R265W|CASP8_uc002uxq.1_Missense_Mutation_p.R233W|CASP8_uc002uxt.1_Missense_Mutation_p.R307W|CASP8_uc002uxu.1_RNA|CASP8_uc002uxv.1_Missense_Mutation_p.R233W|CASP8_uc002uxw.1_Missense_Mutation_p.R233W|CASP8_uc002uxy.1_Missense_Mutation_p.R248W|CASP8_uc002uxx.1_Missense_Mutation_p.R233W|CASP8_uc010ftf.2_Intron|CASP8_uc010fte.1_Missense_Mutation_p.T108M	p.R248W	NM_033355	NP_203519	Q14790	CASP8_HUMAN			8	951	+			248					O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	ENST00000432109.2	37	c.742C>T	CCDS2342.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.03|18.03	3.533327|3.533327	0.64972|0.64972	.|.	.|.	ENSG00000064012|ENSG00000064012	ENST00000392263;ENST00000432109;ENST00000264275;ENST00000450491;ENST00000358485;ENST00000392261;ENST00000323492|ENST00000392259;ENST00000392266;ENST00000392258;ENST00000424461	T;T;D;D;T;T|.	0.83673|.	-1.41;-1.41;-1.75;-1.75;-1.41;-1.41|.	5.6|5.6	3.76|3.76	0.43208|0.43208	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);DEATH-like (1);Peptidase C14, ICE, catalytic subunit p20 (1);|.	.|.	.|.	.|.	.|.	T|T	0.71854|0.71854	0.3389|0.3389	.|.	.|.	.|.	0.20403|0.20403	A|A	9.57995e-05|9.57995e-05	D;D;D;D;D;D|D;D	0.89917|0.89917	1.0;1.0;1.0;1.0;1.0;1.0|1.0;0.999	D;D;D;D;D;D|D;P	0.91635|0.63703	0.999;0.995;0.989;0.975;0.978;0.998|0.917;0.88	T|T	0.79403|0.79403	-0.1818|-0.1818	7|6	0.87932|0.59425	D|D	0|0.04	.|.	12.2345|12.2345	0.54508|0.54508	0.4721:0.5279:0.0:0.0|0.4721:0.5279:0.0:0.0	rs17860424|rs17860424	248;233;307;248;233;265|211;226	Q14790-7;A8MU92;Q14790-9;Q14790;Q14790-2;Q14790-4|Q14790-6;Q14790-5	.;.;.;CASP8_HUMAN;.;.|.;.	W|M	233;248;265;130;307;233;233|226;211;226;74	ENSP00000376091:R233W;ENSP00000412523:R248W;ENSP00000264275:R265W;ENSP00000391709:R130W;ENSP00000351273:R307W;ENSP00000325722:R233W|.	ENSP00000264275:R265W|ENSP00000376087:T226M	R|T	+|+	1|2	2|0	CASP8|CASP8	201849876|201849876	0.024000|0.024000	0.19004|0.19004	0.979000|0.979000	0.43373|0.43373	0.018000|0.018000	0.09664|0.09664	0.275000|0.275000	0.18698|0.18698	0.675000|0.675000	0.31264|0.31264	0.561000|0.561000	0.74099|0.74099	CGG|ACG		0.393	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		17	94	0	0	0	0	17	94				
STRADB	55437	broad.mit.edu	37	2	202342454	202342454	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:202342454G>C	ENST00000194530.3	+	8	1026	c.661G>C	c.(661-663)Gat>Cat	p.D221H	STRADB_ENST00000392249.2_Missense_Mutation_p.D221H	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	221	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cell morphogenesis (GO:0000902)|insulin receptor signaling pathway (GO:0008286)|JNK cascade (GO:0007254)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						GGCTGTGTATGATTTCCCACA	0.522																																						uc002uyd.3		NA																	0				skin(2)|stomach(1)|lung(1)	4						c.(661-663)GAT>CAT		STE20-related kinase adaptor beta							125.0	123.0	124.0					2																	202342454		2203	4297	6500	SO:0001583	missense	55437				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity	g.chr2:202342454G>C	AB038950	CCDS2348.1, CCDS56161.1	2q33.1	2010-09-30	2008-09-15	2008-09-15	ENSG00000082146	ENSG00000082146			13205	protein-coding gene	gene with protein product		607333	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 2"""	ALS2CR2		11161814, 14511394	Standard	NM_018571		Approved	CALS-21, PAPK, ILPIPA, ILPIP	uc002uyd.4	Q9C0K7	OTTHUMG00000132831	ENST00000194530.3:c.661G>C	2.37:g.202342454G>C	ENSP00000194530:p.Asp221His						p.D221H	NM_018571	NP_061041	Q9C0K7	STRAB_HUMAN			8	1026	+			221			Protein kinase.		Q5BKY7|Q9P1L0	Missense_Mutation	SNP	ENST00000194530.3	37	c.661G>C	CCDS2348.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.779602	0.90195	.	.	ENSG00000082146	ENST00000458269;ENST00000194530;ENST00000539670;ENST00000392249;ENST00000392866	T;T;T	0.65364	-0.15;-0.15;-0.15	5.41	5.41	0.78517	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.048309	0.85682	D	0.000000	T	0.76905	0.4053	M	0.70595	2.14	0.80722	D	1	D	0.59357	0.985	P	0.59889	0.865	T	0.78758	-0.2079	10	0.62326	D	0.03	.	19.1823	0.93628	0.0:0.0:1.0:0.0	.	221	Q9C0K7	STRAB_HUMAN	H	166;221;221;221;83	ENSP00000409552:D166H;ENSP00000194530:D221H;ENSP00000376080:D221H	ENSP00000194530:D221H	D	+	1	0	STRADB	202050699	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.230000	0.95299	2.553000	0.86117	0.491000	0.48974	GAT		0.522	STRADB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256297.1	NM_018571		28	208	0	0	0	0	28	208				
MAP2	4133	broad.mit.edu	37	2	210574652	210574652	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:210574652C>T	ENST00000360351.4	+	12	5253	c.4747C>T	c.(4747-4749)Cgc>Tgc	p.R1583C	MAP2_ENST00000199940.6_Missense_Mutation_p.R284C|MAP2_ENST00000361559.4_Missense_Mutation_p.R227C|MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000392194.1_Missense_Mutation_p.R227C|MAP2_ENST00000447185.1_Missense_Mutation_p.R1579C	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1583					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	AGAGCCAATTCGCAGAGCAGG	0.498																																					Pancreas(27;423 979 28787 29963)	uc002vde.1		NA																	0				ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17						c.(4747-4749)CGC>TGC		microtubule-associated protein 2 isoform 1	Estramustine(DB01196)						99.0	86.0	90.0					2																	210574652		2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210574652C>T		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.4747C>T	2.37:g.210574652C>T	ENSP00000353508:p.Arg1583Cys					MAP2_uc002vdd.1_Missense_Mutation_p.R284C|MAP2_uc002vdf.1_Missense_Mutation_p.R227C|MAP2_uc002vdg.1_Missense_Mutation_p.R227C|MAP2_uc002vdh.1_Missense_Mutation_p.R284C|MAP2_uc002vdi.1_Missense_Mutation_p.R1579C	p.R1583C	NM_002374	NP_002365	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	12	4995	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	1583					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.4747C>T	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.769632	0.69992	.	.	ENSG00000078018	ENST00000199940;ENST00000360351;ENST00000361559;ENST00000392194;ENST00000447185	T;T;T;T;T	0.25085	1.82;3.08;2.12;2.12;3.09	5.31	5.31	0.75309	.	0.209062	0.34046	N	0.004314	T	0.34135	0.0887	L	0.27053	0.805	0.50632	D	0.999881	D;B;D;D;D	0.89917	1.0;0.022;0.999;1.0;1.0	D;B;P;D;D	0.79108	0.992;0.011;0.642;0.984;0.964	T	0.08330	-1.0727	10	0.66056	D	0.02	-6.9346	8.5856	0.33655	0.1531:0.7705:0.0:0.0764	.	1579;227;228;1583;284	P11137-3;P11137-2;Q59FX9;P11137;Q8IUX2	.;.;.;MAP2_HUMAN;.	C	284;1583;227;227;1579	ENSP00000199940:R284C;ENSP00000353508:R1583C;ENSP00000355290:R227C;ENSP00000376032:R227C;ENSP00000392164:R1579C	ENSP00000199940:R284C	R	+	1	0	MAP2	210282897	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	3.238000	0.51352	2.629000	0.89072	0.563000	0.77884	CGC		0.498	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		14	116	0	0	0	0	14	116				
CUL3	8452	broad.mit.edu	37	2	225365164	225365164	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:225365164G>A	ENST00000264414.4	-	11	1864	c.1526C>T	c.(1525-1527)aCg>aTg	p.T509M	CUL3_ENST00000409096.1_Missense_Mutation_p.T485M|CUL3_ENST00000409777.1_Missense_Mutation_p.T485M|CUL3_ENST00000344951.4_Missense_Mutation_p.T443M	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	509					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		ATATCCTGTCGTGAGCACCCG	0.423																																						uc002vny.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1)	4						c.(1525-1527)ACG>ATG		cullin 3							206.0	182.0	190.0					2																	225365164		2203	4300	6503	SO:0001583	missense	8452				cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding	g.chr2:225365164G>A	U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.1526C>T	2.37:g.225365164G>A	ENSP00000264414:p.Thr509Met					CUL3_uc010zls.1_Missense_Mutation_p.T443M|CUL3_uc010fwy.1_Missense_Mutation_p.T515M|CUL3_uc002vnz.1_Translation_Start_Site	p.T509M	NM_003590	NP_003581	Q13618	CUL3_HUMAN		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)	11	1910	-		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)	509					A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Missense_Mutation	SNP	ENST00000264414.4	37	c.1526C>T	CCDS2462.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.490273	0.84962	.	.	ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777	T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91	6.03	5.15	0.70609	Cullin, N-terminal (1);Cullin homology (3);	0.000000	0.85682	D	0.000000	D	0.90553	0.7039	H	0.95260	3.645	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	0.93578	0.6910	10	0.87932	D	0	.	17.3355	0.87280	0.0:0.1252:0.8748:0.0	.	443;487;509	Q13618-3;Q53S54;Q13618	.;.;CUL3_HUMAN	M	509;443;485;485	ENSP00000264414:T509M;ENSP00000343601:T443M;ENSP00000387200:T485M;ENSP00000386525:T485M	ENSP00000264414:T509M	T	-	2	0	CUL3	225073408	1.000000	0.71417	0.988000	0.46212	0.995000	0.86356	9.476000	0.97823	1.535000	0.49220	-0.175000	0.13238	ACG		0.423	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			11	194	0	0	0	0	11	194				
DOCK10	55619	broad.mit.edu	37	2	225668859	225668859	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:225668859G>A	ENST00000258390.7	-	39	4305	c.4238C>T	c.(4237-4239)tCc>tTc	p.S1413F	DOCK10_ENST00000409592.3_Missense_Mutation_p.S1407F	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1413					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TGTCTGGCAGGAAGGATTGGA	0.373																																						uc010fwz.1		NA																	0				ovary(2)	2						c.(4237-4239)TCC>TTC		dedicator of cytokinesis 10							105.0	102.0	103.0					2																	225668859		1879	4106	5985	SO:0001583	missense	55619						GTP binding	g.chr2:225668859G>A	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.4238C>T	2.37:g.225668859G>A	ENSP00000258390:p.Ser1413Phe					DOCK10_uc002vob.2_Missense_Mutation_p.S1407F|DOCK10_uc002voa.2_Missense_Mutation_p.S69F|DOCK10_uc002voc.2_Missense_Mutation_p.S267F	p.S1413F	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	39	4477	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1413					B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.4238C>T	CCDS46528.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.0|24.0	4.481220|4.481220	0.84747|0.84747	.|.	.|.	ENSG00000135905|ENSG00000135905	ENST00000422684|ENST00000409592;ENST00000258390	.|T;T	.|0.02050	.|4.48;4.48	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	.|0.331860	.|0.33023	.|N	.|0.005378	T|T	0.08313|0.08313	0.0207|0.0207	L|L	0.29908|0.29908	0.895|0.895	0.52501|0.52501	D|D	0.999957|0.999957	.|B;D;P;B	.|0.65815	.|0.437;0.995;0.814;0.399	.|B;D;B;B	.|0.75484	.|0.099;0.986;0.429;0.418	T|T	0.20306|0.20306	-1.0279|-1.0279	5|10	.|0.87932	.|D	.|0	.|.	19.8009|19.8009	0.96506|0.96506	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1413;267;1407;75	.|Q96BY6;B4DF07;B3FL70;B4DEY4	.|DOC10_HUMAN;.;.;.	S|F	295|1407;1413	.|ENSP00000386694:S1407F;ENSP00000258390:S1413F	.|ENSP00000258390:S1413F	P|S	-|-	1|2	0|0	DOCK10|DOCK10	225377103|225377103	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.537000|7.537000	0.82033|0.82033	2.680000|2.680000	0.91292|0.91292	0.585000|0.585000	0.79938|0.79938	CCT|TCC		0.373	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			5	66	0	0	0	0	5	66				
SPHKAP	80309	broad.mit.edu	37	2	228881385	228881385	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:228881385G>A	ENST00000392056.3	-	7	4231	c.4185C>T	c.(4183-4185)aaC>aaT	p.N1395N	SPHKAP_ENST00000344657.5_Silent_p.N1395N	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1395						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AAGGGCTGTGGTTTGTAAGAG	0.463																																						uc002vpq.2		NA																	0				skin(5)|ovary(4)|lung(1)	10						c.(4183-4185)AAC>AAT		sphingosine kinase type 1-interacting protein							90.0	95.0	94.0					2																	228881385		2203	4300	6503	SO:0001819	synonymous_variant	80309					cytoplasm	protein binding	g.chr2:228881385G>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4185C>T	2.37:g.228881385G>A						SPHKAP_uc002vpp.2_Silent_p.N1395N|SPHKAP_uc010zlx.1_Silent_p.N1395N	p.N1395N	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	4232	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1395					Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	ENST00000392056.3	37	c.4185C>T	CCDS46537.1																																																																																				0.463	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		23	188	0	0	0	0	23	188				
SPHKAP	80309	broad.mit.edu	37	2	228883163	228883163	+	Missense_Mutation	SNP	C	C	A	rs146520315	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:228883163C>A	ENST00000392056.3	-	7	2453	c.2407G>T	c.(2407-2409)Ggc>Tgc	p.G803C	SPHKAP_ENST00000344657.5_Missense_Mutation_p.G803C	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	803						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTGAAGAGGCCTGGCCTCACT	0.463																																						uc002vpq.2		NA																	0				skin(5)|ovary(4)|lung(1)	10						c.(2407-2409)GGC>TGC		sphingosine kinase type 1-interacting protein							431.0	411.0	418.0					2																	228883163		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228883163C>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2407G>T	2.37:g.228883163C>A	ENSP00000375909:p.Gly803Cys					SPHKAP_uc002vpp.2_Missense_Mutation_p.G803C|SPHKAP_uc010zlx.1_Missense_Mutation_p.G803C	p.G803C	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	2454	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	803					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.2407G>T	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.367231	0.24771	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.12672	2.66;2.67	5.97	3.85	0.44370	.	0.552953	0.19466	N	0.113577	T	0.28234	0.0697	M	0.65975	2.015	0.09310	N	1	B;D	0.71674	0.062;0.998	B;P	0.61592	0.023;0.891	T	0.04386	-1.0955	10	0.66056	D	0.02	.	7.8735	0.29580	0.3864:0.5326:0.0:0.081	.	803;803	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	C	803	ENSP00000375909:G803C;ENSP00000339886:G803C	ENSP00000339886:G803C	G	-	1	0	SPHKAP	228591407	0.043000	0.20138	0.788000	0.31933	0.178000	0.23041	1.078000	0.30754	1.519000	0.48950	0.655000	0.94253	GGC		0.463	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		109	779	1	0	4.37e-48	4.85e-48	109	779				
PRR21	643905	broad.mit.edu	37	2	240981426	240981426	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:240981426G>C	ENST00000408934.1	-	1	973	c.974C>G	c.(973-975)tCt>tGt	p.S325C		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	325										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						CGTGGATGAAGAGGCATGGAC	0.597																																						uc010zod.1		NA																	0				ovary(1)|skin(1)	2						c.(973-975)TCT>TGT		proline rich 21							181.0	159.0	167.0					2																	240981426		2203	4300	6503	SO:0001583	missense	643905							g.chr2:240981426G>C	AF453950	CCDS33417.1	2q37.3	2009-04-20			ENSG00000221961	ENSG00000221961			33866	protein-coding gene	gene with protein product							Standard	NM_001080835		Approved		uc010zod.2	Q8WXC7	OTTHUMG00000159174	ENST00000408934.1:c.974C>G	2.37:g.240981426G>C	ENSP00000386166:p.Ser325Cys						p.S325C	NM_001080835	NP_001074304	Q8WXC7	PRR21_HUMAN			1	974	-			325						Missense_Mutation	SNP	ENST00000408934.1	37	c.974C>G	CCDS33417.1	.	.	.	.	.	.	.	.	.	.	g	9.245	1.039247	0.19669	.	.	ENSG00000221961	ENST00000408934;ENST00000486799	T;T	0.04119	3.7;3.7	1.14	1.14	0.20703	.	.	.	.	.	T	0.02727	0.0082	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.43621	-0.9380	9	0.37606	T	0.19	.	8.2028	0.31434	0.0:0.0:1.0:0.0	.	325	Q8WXC7	PRR21_HUMAN	C	325	ENSP00000386166:S325C;ENSP00000418240:S325C	ENSP00000386166:S325C	S	-	2	0	PRR21	240630099	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-1.107000	0.03316	0.950000	0.37743	0.502000	0.49764	TCT		0.597	PRR21-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080835		35	227	0	0	0	0	35	227				
SLC4A11	83959	broad.mit.edu	37	20	3214613	3214613	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr20:3214613C>T	ENST00000380056.3	-	5	654	c.607G>A	c.(607-609)Gcc>Acc	p.A203T	SLC4A11_ENST00000539553.2_Missense_Mutation_p.A187T|SLC4A11_ENST00000380059.3_Missense_Mutation_p.A230T	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	203					bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GTCACTGTGGCGGTGACCCCT	0.647																																					NSCLC(190;922 2139 10266 10292 38692)	uc002wig.2		NA																	0				ovary(1)	1						c.(607-609)GCC>ACC		solute carrier family 4 member 11							108.0	103.0	105.0					20																	3214613		2203	4300	6503	SO:0001583	missense	83959				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity	g.chr20:3214613C>T	AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.607G>A	20.37:g.3214613C>T	ENSP00000369396:p.Ala203Thr					SLC4A11_uc010zqe.1_Missense_Mutation_p.A230T|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Missense_Mutation_p.A187T	p.A203T	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN			5	655	-			203			Cytoplasmic (Potential).		B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Missense_Mutation	SNP	ENST00000380056.3	37	c.607G>A	CCDS13052.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.023109	0.54683	.	.	ENSG00000088836	ENST00000380059;ENST00000380056;ENST00000539553;ENST00000437836	T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24	5.22	4.27	0.50696	Phosphotransferase/anion transporter (1);	0.061993	0.64402	D	0.000006	T	0.74589	0.3736	L	0.42245	1.32	0.58432	D	0.999991	D;D;D	0.63046	0.992;0.986;0.986	P;P;P	0.50860	0.652;0.546;0.546	T	0.70389	-0.4885	10	0.09843	T	0.71	.	14.1928	0.65649	0.1507:0.8493:0.0:0.0	.	187;230;203	G3V1M3;B4DKC8;Q8NBS3	.;.;S4A11_HUMAN	T	230;203;187;187	ENSP00000369399:A230T;ENSP00000369396:A203T;ENSP00000441370:A187T;ENSP00000404271:A187T	ENSP00000369396:A203T	A	-	1	0	SLC4A11	3162613	0.995000	0.38212	0.854000	0.33618	0.287000	0.27160	3.257000	0.51500	1.160000	0.42584	0.563000	0.77884	GCC		0.647	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1			18	129	0	0	0	0	18	129				
SLC23A2	9962	broad.mit.edu	37	20	4843461	4843461	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr20:4843461C>T	ENST00000379333.1	-	14	1841	c.1449G>A	c.(1447-1449)ccG>ccA	p.P483P	SLC23A2_ENST00000338244.1_Silent_p.P483P|SLC23A2_ENST00000424750.2_Silent_p.P369P	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	483					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GCACAGGATCCGGAAGGGACG	0.557																																						uc002wlg.1		NA																	0				ovary(2)	2						c.(1447-1449)CCG>CCA		solute carrier family 23 (nucleobase							69.0	68.0	68.0					20																	4843461		2203	4300	6503	SO:0001819	synonymous_variant	9962				L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity	g.chr20:4843461C>T	AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"""Solute carriers"""	10973	protein-coding gene	gene with protein product		603791	"""solute carrier family 23 (nucleobase transporters), member 1"""	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.1449G>A	20.37:g.4843461C>T						SLC23A2_uc010zqr.1_Silent_p.P368P|SLC23A2_uc002wlh.1_Silent_p.P483P	p.P483P	NM_005116	NP_005107	Q9UGH3	S23A2_HUMAN			14	1824	-			483					B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Silent	SNP	ENST00000379333.1	37	c.1449G>A	CCDS13085.1	.	.	.	.	.	.	.	.	.	.	C	0.218	-1.030754	0.02045	.	.	ENSG00000089057	ENST00000423430	.	.	.	5.61	-11.2	0.00127	.	.	.	.	.	T	0.33440	0.0863	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46992	-0.9151	4	.	.	.	-20.0555	3.2487	0.06806	0.1558:0.1553:0.1769:0.5121	.	.	.	.	R	240	.	.	G	-	1	0	SLC23A2	4791461	0.000000	0.05858	0.009000	0.14445	0.081000	0.17604	-3.209000	0.00557	-3.393000	0.00172	-1.170000	0.01741	GGA		0.557	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077832.1			11	88	0	0	0	0	11	88				
RALGAPA2	57186	broad.mit.edu	37	20	20493692	20493692	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr20:20493692G>A	ENST00000202677.7	-	32	4328	c.4321C>T	c.(4321-4323)Cag>Tag	p.Q1441*		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1441					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GTGGGTGTCTGAAGGTAGGAG	0.507																																						uc002wrz.2		NA																	0				ovary(1)	1						c.(4321-4323)CAG>TAG		akt substrate AS250							50.0	48.0	49.0					20																	20493692		1860	4103	5963	SO:0001587	stop_gained	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20493692G>A	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.4321C>T	20.37:g.20493692G>A	ENSP00000202677:p.Gln1441*					RALGAPA2_uc010gcx.2_Nonsense_Mutation_p.Q1145*|RALGAPA2_uc010zsg.1_Nonsense_Mutation_p.Q889*|RALGAPA2_uc002wsa.1_Nonsense_Mutation_p.Q213*	p.Q1441*	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN			32	4464	-			1441					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Nonsense_Mutation	SNP	ENST00000202677.7	37	c.4321C>T	CCDS46584.1	.	.	.	.	.	.	.	.	.	.	G	45	11.367203	0.99552	.	.	ENSG00000188559	ENST00000202677	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4375	0.99097	0.0:0.0:1.0:0.0	.	.	.	.	X	1441	.	.	Q	-	1	0	RALGAPA2	20441692	1.000000	0.71417	0.451000	0.26982	0.570000	0.35934	9.743000	0.98849	2.906000	0.99361	0.655000	0.94253	CAG		0.507	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		5	38	0	0	0	0	5	38				
RALGAPA2	57186	broad.mit.edu	37	20	20493763	20493763	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr20:20493763G>A	ENST00000202677.7	-	32	4257	c.4250C>T	c.(4249-4251)tCc>tTc	p.S1417F		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1417					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CACCTCAAAGGACAGCTCGGA	0.552																																						uc002wrz.2		NA																	0				ovary(1)	1						c.(4249-4251)TCC>TTC		akt substrate AS250							51.0	49.0	50.0					20																	20493763		1945	4146	6091	SO:0001583	missense	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20493763G>A	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.4250C>T	20.37:g.20493763G>A	ENSP00000202677:p.Ser1417Phe					RALGAPA2_uc010gcx.2_Missense_Mutation_p.S1121F|RALGAPA2_uc010zsg.1_Missense_Mutation_p.S865F|RALGAPA2_uc002wsa.1_Missense_Mutation_p.S189F	p.S1417F	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN			32	4393	-			1417					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	c.4250C>T	CCDS46584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.38|19.38	3.815967|3.815967	0.70912|0.70912	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000430436|ENST00000202677	.|D	.|0.95980	.|-3.87	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97923|0.97923	0.9317|0.9317	M|M	0.86651|0.86651	2.83|2.83	0.51012|0.51012	D|D	0.999902|0.999902	.|D;D;D	.|0.89917	.|0.994;1.0;1.0	.|D;D;D	.|0.91635	.|0.971;0.999;0.984	D|D	0.98087|0.98087	1.0407|1.0407	5|9	.|.	.|.	.|.	.|.	16.9566|16.9566	0.86261|0.86261	0.0:0.1274:0.8726:0.0|0.0:0.1274:0.8726:0.0	.|.	.|1255;1417;1417	.|A8MSM5;Q2PPJ7-2;Q2PPJ7	.|.;.;RGPA2_HUMAN	S|F	1234|1417	.|ENSP00000202677:S1417F	.|.	P|S	-|-	1|2	0|0	RALGAPA2|RALGAPA2	20441763|20441763	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.929000|0.929000	0.56500|0.56500	7.839000|7.839000	0.86812|0.86812	2.803000|2.803000	0.96430|0.96430	0.591000|0.591000	0.81541|0.81541	CCT|TCC		0.552	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		4	48	0	0	0	0	4	48				
EPB41L1	2036	broad.mit.edu	37	20	34809829	34809829	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr20:34809829T>A	ENST00000338074.2	+	20	2644	c.2483T>A	c.(2482-2484)aTc>aAc	p.I828N	EPB41L1_ENST00000373946.3_Missense_Mutation_p.I648N|EPB41L1_ENST00000202028.5_Missense_Mutation_p.I726N|EPB41L1_ENST00000441639.1_Missense_Mutation_p.I726N|EPB41L1_ENST00000373950.2_Missense_Mutation_p.I719N|EPB41L1_ENST00000373941.1_Missense_Mutation_p.I827N	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	828	C-terminal (CTD).				cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GAGAAGCGAATCATCATTACT	0.542																																						uc002xfb.2		NA																	0				ovary(2)|pancreas(1)	3						c.(2482-2484)ATC>AAC		erythrocyte membrane protein band 4.1-like 1							139.0	111.0	121.0					20																	34809829		2203	4300	6503	SO:0001583	missense	2036				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity	g.chr20:34809829T>A	AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.2483T>A	20.37:g.34809829T>A	ENSP00000337168:p.Ile828Asn					EPB41L1_uc002xeu.2_Missense_Mutation_p.I726N|EPB41L1_uc002xev.2_Missense_Mutation_p.I827N|EPB41L1_uc002xew.2_Missense_Mutation_p.I719N|EPB41L1_uc002xex.2_Missense_Mutation_p.I648N|EPB41L1_uc002xey.2_Missense_Mutation_p.I578N|EPB41L1_uc002xez.2_Missense_Mutation_p.I726N|EPB41L1_uc010gfq.2_Missense_Mutation_p.I926N	p.I828N	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN			20	2654	+	Breast(12;0.0239)		828			Carboxyl-terminal (CTD).		O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Missense_Mutation	SNP	ENST00000338074.2	37	c.2483T>A	CCDS13271.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.1|27.1	4.803834|4.803834	0.90623|0.90623	.|.	.|.	ENSG00000088367|ENSG00000088367	ENST00000202028;ENST00000373950;ENST00000373951;ENST00000441639;ENST00000373946;ENST00000338074;ENST00000373941;ENST00000454226|ENST00000451082;ENST00000432603	D;D;D;D;D;D;D|.	0.83992|.	-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79|.	5.47|5.47	5.47|5.47	0.80525|0.80525	Band 4.1, C-terminal (1);|.	.|.	.|.	.|.	.|.	T|T	0.74581|0.74581	0.3735|0.3735	M|M	0.76170|0.76170	2.325|2.325	0.58432|0.58432	D|D	0.999998|0.999998	D;D;D;D;D|.	0.89917|.	1.0;0.997;1.0;0.996;0.996|.	D;D;D;D;D|.	0.91635|.	0.999;0.994;0.999;0.994;0.944|.	T|T	0.75494|0.75494	-0.3298|-0.3298	9|5	0.87932|.	D|.	0|.	.|.	14.7383|14.7383	0.69434|0.69434	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	828;648;719;719;726|.	Q9H4G0;Q9H4G0-4;Q9H4G0-3;B3KUB6;Q9H4G0-2|.	E41L1_HUMAN;.;.;.;.|.	N|T	726;719;719;726;648;828;827;189|256;66	ENSP00000202028:I726N;ENSP00000363061:I719N;ENSP00000399214:I726N;ENSP00000363057:I648N;ENSP00000337168:I828N;ENSP00000363052:I827N;ENSP00000388281:I189N|.	ENSP00000202028:I726N|.	I|S	+|+	2|1	0|0	EPB41L1|EPB41L1	34273243|34273243	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.698000|7.698000	0.84413|0.84413	2.074000|2.074000	0.62210|0.62210	0.379000|0.379000	0.24179|0.24179	ATC|TCA		0.542	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	NM_012156		11	70	0	0	0	0	11	70				
DHX35	60625	broad.mit.edu	37	20	37634810	37634810	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr20:37634810G>A	ENST00000252011.3	+	12	1066	c.1033G>A	c.(1033-1035)Gca>Aca	p.A345T	DHX35_ENST00000373325.2_Missense_Mutation_p.A345T|DHX35_ENST00000373323.4_Missense_Mutation_p.A314T	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	345	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				CACCAATGTGGCAGAAACCTC	0.408																																						uc002xjh.2		NA																	0				lung(1)|kidney(1)|skin(1)	3						c.(1033-1035)GCA>ACA		DEAH (Asp-Glu-Ala-His) box polypeptide 35							319.0	313.0	315.0					20																	37634810		2203	4300	6503	SO:0001583	missense	60625					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr20:37634810G>A	AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"""DEAH-boxes"""	15861	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"""	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.1033G>A	20.37:g.37634810G>A	ENSP00000252011:p.Ala345Thr					DHX35_uc010zwa.1_Missense_Mutation_p.A190T|DHX35_uc010zwb.1_Missense_Mutation_p.A190T|DHX35_uc010zwc.1_Missense_Mutation_p.A314T	p.A345T	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN			12	1044	+		Myeloproliferative disorder(115;0.00878)	345			Helicase C-terminal.		A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Missense_Mutation	SNP	ENST00000252011.3	37	c.1033G>A	CCDS13310.1	.	.	.	.	.	.	.	.	.	.	G	36	5.673783	0.96764	.	.	ENSG00000101452	ENST00000373325;ENST00000252011;ENST00000373323	T;T;T	0.78481	-1.18;-1.18;-1.18	5.97	5.97	0.96955	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.92864	0.7730	H	0.97186	3.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.94305	0.7540	10	0.87932	D	0	.	20.428	0.99075	0.0:0.0:1.0:0.0	.	314;345	F5GXM6;Q9H5Z1	.;DHX35_HUMAN	T	345;345;314	ENSP00000362422:A345T;ENSP00000252011:A345T;ENSP00000362420:A314T	ENSP00000252011:A345T	A	+	1	0	DHX35	37068224	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.837000	0.99465	2.837000	0.97791	0.655000	0.94253	GCA		0.408	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	NM_021931		30	663	0	0	0	0	30	663				
MAFB	9935	broad.mit.edu	37	20	39316607	39316607	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr20:39316607T>G	ENST00000373313.2	-	1	1273	c.884A>C	c.(883-885)aAg>aCg	p.K295T	MAFB_ENST00000396967.1_Missense_Mutation_p.K295T	NM_005461.3	NP_005452.2	Q9Y5Q3	MAFB_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B	295	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				brain segmentation (GO:0035284)|inner ear morphogenesis (GO:0042472)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|respiratory gaseous exchange (GO:0007585)|rhombomere 5 development (GO:0021571)|rhombomere 6 development (GO:0021572)|segment specification (GO:0007379)|sensory organ development (GO:0007423)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|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)|transcription factor binding (GO:0008134)			kidney(1)|large_intestine(1)	2		Myeloproliferative disorder(115;0.00878)				GCACTTGACCTTGTAGGCGTC	0.617			T	IGH@	MM																																	uc002xji.2		NA		Dom	yes		20	20q11.2-q13.1	9935	T	v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian)			L	IGH@		MM		0					0						c.(883-885)AAG>ACG		transcription factor MAFB							81.0	88.0	86.0					20																	39316607		2203	4300	6503	SO:0001583	missense	9935				negative regulation of erythrocyte differentiation		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr20:39316607T>G	AF134157	CCDS13311.1	20q11.1-q13.1	2013-07-09	2013-07-09	2001-11-30	ENSG00000204103	ENSG00000204103			6408	protein-coding gene	gene with protein product		608968	"""Kreisler (mouse) maf-related leucine zipper homolog"""	KRML		10444328	Standard	NM_005461		Approved		uc002xji.3	Q9Y5Q3	OTTHUMG00000033052	ENST00000373313.2:c.884A>C	20.37:g.39316607T>G	ENSP00000362410:p.Lys295Thr						p.K295T	NM_005461	NP_005452	Q9Y5Q3	MAFB_HUMAN			1	1270	-		Myeloproliferative disorder(115;0.00878)	295					B3KNE1|Q9H1F1	Missense_Mutation	SNP	ENST00000373313.2	37	c.884A>C	CCDS13311.1	.	.	.	.	.	.	.	.	.	.	T	17.94	3.511120	0.64522	.	.	ENSG00000204103	ENST00000373313;ENST00000396967	D;D	0.92048	-2.96;-2.96	3.25	3.25	0.37280	Basic-leucine zipper (bZIP) transcription factor (2);Maf transcription factor (1);	0.000000	0.85682	D	0.000000	D	0.96074	0.8721	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96386	0.9285	10	0.87932	D	0	-28.9294	12.1013	0.53785	0.0:0.0:0.0:1.0	.	295	Q9Y5Q3	MAFB_HUMAN	T	295	ENSP00000362410:K295T;ENSP00000380167:K295T	ENSP00000362410:K295T	K	-	2	0	MAFB	38750021	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.779000	0.85648	1.510000	0.48803	0.374000	0.22700	AAG		0.617	MAFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080375.2			9	145	0	0	0	0	9	145				
PI3	5266	broad.mit.edu	37	20	43804666	43804666	+	Missense_Mutation	SNP	C	C	T	rs541768512		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr20:43804666C>T	ENST00000243924.3	+	2	291	c.244C>T	c.(244-246)Cgg>Tgg	p.R82W		NM_002638.3	NP_002629.1	P19957	ELAF_HUMAN	peptidase inhibitor 3, skin-derived	82	WAP. {ECO:0000255|PROSITE- ProRule:PRU00722}.				copulation (GO:0007620)|negative regulation of endopeptidase activity (GO:0010951)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				TATCTTGATCCGGTGCGCCAT	0.507													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19723	0.0		0.0	False		,,,				2504	0.0					uc002xng.2		NA																	0					0						c.(244-246)CGG>TGG		elafin preproprotein							126.0	110.0	116.0					20																	43804666		2203	4300	6503	SO:0001583	missense	5266				copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity	g.chr20:43804666C>T	D13156	CCDS13344.1	20q13.12	2013-01-21	2008-10-03		ENSG00000124102	ENSG00000124102		"""WAP four-disulfide core domain containing"""	8947	protein-coding gene	gene with protein product	"""skin-derived antileukoproteinase"", ""trappin-2"""	182257	"""protease inhibitor 3, skin-derived (SKALP)"""			8287685, 12206714	Standard	NM_002638		Approved	ESI, SKALP, ELAFIN, WAP3, WFDC14, cementoin	uc002xng.3	P19957	OTTHUMG00000032567	ENST00000243924.3:c.244C>T	20.37:g.43804666C>T	ENSP00000243924:p.Arg82Trp						p.R82W	NM_002638	NP_002629	P19957	ELAF_HUMAN			2	268	+		Myeloproliferative disorder(115;0.0122)	82			WAP.		E1P618|Q6FG74	Missense_Mutation	SNP	ENST00000243924.3	37	c.244C>T	CCDS13344.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.809305	0.50421	.	.	ENSG00000124102	ENST00000243924	T	0.72505	-0.66	4.49	-1.4	0.08968	Whey acidic protein, 4-disulphide core (5);	0.662303	0.12723	N	0.444547	T	0.79347	0.4430	M	0.87971	2.92	0.09310	N	1	D	0.76494	0.999	D	0.63192	0.912	T	0.67273	-0.5712	10	0.72032	D	0.01	.	2.9201	0.05766	0.2798:0.3327:0.3:0.0875	.	82	P19957	ELAF_HUMAN	W	82	ENSP00000243924:R82W	ENSP00000243924:R82W	R	+	1	2	PI3	43238080	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.285000	0.08410	-0.309000	0.08779	0.650000	0.86243	CGG		0.507	PI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079418.3	NM_002638		9	102	0	0	0	0	9	102				
SEMG2	6407	broad.mit.edu	37	20	43851591	43851591	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr20:43851591G>C	ENST00000372769.3	+	2	1408	c.1318G>C	c.(1318-1320)Gag>Cag	p.E440Q		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	440	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction (GO:0019953)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				CCAAACTGAAGAGAAAATACA	0.378																																						uc010ggz.2		NA																	0				skin(1)	1						c.(1318-1320)GAG>CAG		semenogelin II precursor							78.0	75.0	76.0					20																	43851591		2203	4300	6503	SO:0001583	missense	6407				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43851591G>C		CCDS13346.1	20q12-q13.1	2008-07-02			ENSG00000124157	ENSG00000124157			10743	protein-coding gene	gene with protein product	"""Semenogelin 2"""	182141				1517240, 9523691	Standard	NM_003008		Approved	SGII	uc002xnk.3	Q02383	OTTHUMG00000032566	ENST00000372769.3:c.1318G>C	20.37:g.43851591G>C	ENSP00000361855:p.Glu440Gln					SEMG2_uc002xnk.2_Missense_Mutation_p.E440Q|SEMG2_uc002xnl.2_Intron	p.E440Q	NM_003008	NP_002999	Q02383	SEMG2_HUMAN			2	1375	+		Myeloproliferative disorder(115;0.0122)	440			Repeat-rich region.|4 X 60 AA tandem repeats, type I.		Q53ZU2|Q6X2M5|Q6X2M6	Missense_Mutation	SNP	ENST00000372769.3	37	c.1318G>C	CCDS13346.1	.	.	.	.	.	.	.	.	.	.	G	9.622	1.134156	0.21123	.	.	ENSG00000124157	ENST00000372769	T	0.10573	2.86	1.03	-2.06	0.07298	.	.	.	.	.	T	0.18635	0.0447	L	0.59436	1.845	0.09310	N	1	D;P	0.56287	0.975;0.951	D;P	0.74023	0.982;0.708	T	0.19128	-1.0315	9	0.18710	T	0.47	.	2.8787	0.05640	0.2799:0.3914:0.3288:0.0	.	440;440	A8K6Z6;Q02383	.;SEMG2_HUMAN	Q	440	ENSP00000361855:E440Q	ENSP00000361855:E440Q	E	+	1	0	SEMG2	43285005	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.692000	0.01918	-0.669000	0.05289	-0.344000	0.07964	GAG		0.378	SEMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079417.1	NM_003008		8	91	0	0	0	0	8	91				
WFDC3	140686	broad.mit.edu	37	20	44404233	44404233	+	Missense_Mutation	SNP	C	C	T	rs376220123		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr20:44404233C>T	ENST00000243938.4	-	6	585	c.502G>A	c.(502-504)Ggt>Agt	p.G168S	WFDC3_ENST00000372632.2_Missense_Mutation_p.G74S|WFDC3_ENST00000481847.1_5'UTR|WFDC3_ENST00000372630.2_Missense_Mutation_p.G31S	NM_080614.1	NP_542181.1	Q8IUB2	WFDC3_HUMAN	WAP four-disulfide core domain 3	168	WAP 4. {ECO:0000255|PROSITE- ProRule:PRU00722}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|large_intestine(3)|prostate(1)	5		Myeloproliferative disorder(115;0.0122)				GGACAATCACCGCCCCGCCCT	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		19719	0.001		0.0	False		,,,				2504	0.0					uc002xpf.1		NA																	0					0						c.(502-504)GGT>AGT		WAP four-disulfide core domain 3 precursor		C	SER/GLY	0,4406		0,0,2203	125.0	108.0	114.0		502	4.6	0.1	20		114	1,8599	1.2+/-3.3	0,1,4299	no	missense	WFDC3	NM_080614.1	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	168/232	44404233	1,13005	2203	4300	6503	SO:0001583	missense	140686					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44404233C>T	AL050348	CCDS33478.1	20q13.12	2013-01-21			ENSG00000124116	ENSG00000124116		"""WAP four-disulfide core domain containing"""	15957	protein-coding gene	gene with protein product						12206714, 10680116	Standard	NM_080614		Approved	dJ447F3.3, WAP14	uc002xpf.1	Q8IUB2	OTTHUMG00000032614	ENST00000243938.4:c.502G>A	20.37:g.44404233C>T	ENSP00000243938:p.Gly168Ser					WFDC3_uc002xpj.1_RNA|WFDC3_uc002xph.1_RNA|WFDC3_uc010ghh.1_RNA	p.G168S	NM_080614	NP_542181	Q8IUB2	WFDC3_HUMAN			6	586	-		Myeloproliferative disorder(115;0.0122)	168			WAP 4.		A6PVF2|Q0P6A5|Q3T1C5|Q8TC52|Q9BQP3|Q9BQP4	Missense_Mutation	SNP	ENST00000243938.4	37	c.502G>A	CCDS33478.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.732997	0.69189	0.0	1.16E-4	ENSG00000124116	ENST00000243938;ENST00000372630;ENST00000372632	T;T;D	0.96774	0.59;0.59;-4.12	4.57	4.57	0.56435	Whey acidic protein, 4-disulphide core (5);	0.000000	0.42682	D	0.000668	D	0.98416	0.9473	M	0.94063	3.49	0.19300	N	0.999979	D	0.89917	1.0	D	0.97110	1.0	D	0.93871	0.7162	10	0.87932	D	0	-17.6118	13.0674	0.59041	0.0:1.0:0.0:0.0	.	168	Q8IUB2	WFDC3_HUMAN	S	168;31;74	ENSP00000243938:G168S;ENSP00000361713:G31S;ENSP00000361715:G74S	ENSP00000243938:G168S	G	-	1	0	WFDC3	43837640	0.309000	0.24518	0.102000	0.21198	0.010000	0.07245	3.169000	0.50809	2.568000	0.86640	0.655000	0.94253	GGT		0.532	WFDC3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316858.1			6	99	0	0	0	0	6	99				
PREX1	57580	broad.mit.edu	37	20	47324916	47324916	+	Missense_Mutation	SNP	G	G	A	rs375685234		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr20:47324916G>A	ENST00000371941.3	-	6	687	c.665C>T	c.(664-666)gCg>gTg	p.A222V	PREX1_ENST00000396220.1_Missense_Mutation_p.A222V	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	222	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			ACTCTGGACCGCGGGGTGGTC	0.582																																						uc002xtw.1		NA																	0				lung(3)|ovary(2)|pancreas(1)	6						c.(664-666)GCG>GTG		phosphatidylinositol-3,4,		G	VAL/ALA	0,4406		0,0,2203	120.0	130.0	127.0		665	5.6	0.2	20		127	1,8599	1.2+/-3.3	0,1,4299	no	missense	PREX1	NM_020820.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	222/1660	47324916	1,13005	2203	4300	6503	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47324916G>A	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.665C>T	20.37:g.47324916G>A	ENSP00000361009:p.Ala222Val						p.A222V	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		6	688	-			222			DH.		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.665C>T	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	G	11.57	1.676973	0.29783	0.0	1.16E-4	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.64803	-0.12;-0.12	5.64	5.64	0.86602	Dbl homology (DH) domain (5);	0.000000	0.53938	U	0.000049	T	0.51126	0.1656	L	0.33137	0.985	0.41247	D	0.986688	P	0.35959	0.53	B	0.28139	0.086	T	0.49744	-0.8907	10	0.29301	T	0.29	.	19.7013	0.96054	0.0:0.0:1.0:0.0	.	222	Q8TCU6	PREX1_HUMAN	V	222	ENSP00000361009:A222V;ENSP00000379522:A222V	ENSP00000361009:A222V	A	-	2	0	PREX1	46758323	1.000000	0.71417	0.162000	0.22713	0.184000	0.23303	4.979000	0.63806	2.657000	0.90304	0.655000	0.94253	GCG		0.582	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		35	391	0	0	0	0	35	391				
TMEM189-UBE2V1	387522	broad.mit.edu	37	20	48744600	48744600	+	Silent	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr20:48744600G>C	ENST00000341698.2	-	5	602	c.603C>G	c.(601-603)ctC>ctG	p.L201L	TMEM189_ENST00000557021.1_Silent_p.L201L|TMEM189_ENST00000371652.4_Silent_p.L201L|TMEM189_ENST00000371656.2_Silent_p.L126L|TMEM189_ENST00000371650.5_Silent_p.L198L	NM_001257399.1	NP_001244328.1			TMEM189-UBE2V1 readthrough											breast(1)|endometrium(4)|large_intestine(6)|lung(6)	17			BRCA - Breast invasive adenocarcinoma(9;8.29e-07)			AGTCCTGCAGGAGGGTGACCC	0.587																																						uc002xvf.2		NA																	0					0						c.(601-603)CTC>CTG		TMEM189-UBE2V1 readthrough transcript							233.0	147.0	176.0					20																	48744600		2203	4300	6503	SO:0001819	synonymous_variant	387522				cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein K63-linked ubiquitination|regulation of DNA repair|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus|UBC13-UEV1A complex|ubiquitin ligase complex	acid-amino acid ligase activity|protein binding	g.chr20:48744600G>C	U39361	CCDS13424.1	20q13.13	2011-05-31			ENSG00000124208	ENSG00000124208			33521	other	readthrough						11076860	Standard	NM_199203		Approved	Kua-UEV, CROC-1B	uc002xvf.3		OTTHUMG00000033085	ENST00000341698.2:c.603C>G	20.37:g.48744600G>C						TMEM189_uc010zyq.1_RNA|TMEM189_uc002xvg.2_Silent_p.L201L|TMEM189_uc010gif.2_Silent_p.L198L|TMEM189_uc010zyp.1_Silent_p.L126L	p.L201L	NM_199203	NP_954673	Q13404	UB2V1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;8.29e-07)		5	764	-			Error:Variant_position_missing_in_Q13404_after_alignment						Silent	SNP	ENST00000341698.2	37	c.603C>G	CCDS13424.1																																																																																				0.587	TMEM189-UBE2V1-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000080532.5			12	52	0	0	0	0	12	52				
ZNF217	7764	broad.mit.edu	37	20	52188284	52188284	+	Nonstop_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr20:52188284C>G	ENST00000371471.2	-	5	3571	c.3146G>C	c.(3145-3147)tGa>tCa	p.*1049S	ZNF217_ENST00000302342.3_Nonstop_Mutation_p.*1049S|RP4-724E16.2_ENST00000424252.1_RNA			O75362	ZN217_HUMAN	zinc finger protein 217	0					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			ATTAGTGAATCAAGTTTTTTT	0.413																																						uc002xwq.3		NA																	0				skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6						c.(3145-3147)TGA>TCA		zinc finger protein 217							172.0	159.0	164.0					20																	52188284		2202	4298	6500	SO:0001578	stop_lost	7764				negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:52188284C>G	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.3146G>C	20.37:g.52188284C>G							p.*1049S	NM_006526	NP_006517	O75362	ZN217_HUMAN	BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)		4	3417	-	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		1049					E1P5Y6|Q14DB8	Nonstop_Mutation	SNP	ENST00000371471.2	37	c.3146G>C	CCDS13443.1	.	.	.	.	.	.	.	.	.	.	C	7.191	0.591575	0.13812	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5358	0.87830	0.0:1.0:0.0:0.0	.	.	.	.	S	1049	.	.	X	-	2	2	ZNF217	51621691	1.000000	0.71417	0.996000	0.52242	0.104000	0.19210	2.123000	0.41996	2.653000	0.90120	0.563000	0.77884	TGA		0.413	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526		12	149	0	0	0	0	12	149				
CDH26	60437	broad.mit.edu	37	20	58587630	58587630	+	Intron	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr20:58587630C>T	ENST00000244047.5	+	15	2483				CDH26_ENST00000350849.6_Missense_Mutation_p.H115Y|CDH26_ENST00000244049.3_Missense_Mutation_p.H74Y|CDH26_ENST00000348616.4_Missense_Mutation_p.H782Y|CDH26_ENST00000497614.1_3'UTR			Q8IXH8	CAD26_HUMAN	cadherin 26						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			CTACCTACCTCACGTCTACAG	0.552																																						uc002ybe.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(2344-2346)CAC>TAC		cadherin-like 26 isoform a							101.0	92.0	95.0					20																	58587630		2203	4300	6503	SO:0001627	intron_variant	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58587630C>T	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.2172+5788C>T	20.37:g.58587630C>T						CDH26_uc002ybf.1_Intron|CDH26_uc010zzy.1_RNA|CDH26_uc002ybg.2_Missense_Mutation_p.H273Y|CDH26_uc002ybh.2_Missense_Mutation_p.H115Y|CDH26_uc002ybi.2_Missense_Mutation_p.H74Y	p.H782Y	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		18	2644	+	all_lung(29;0.00963)		Error:Variant_position_missing_in_Q8IXH8_after_alignment					A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	ENST00000244047.5	37	c.2344C>T		.	.	.	.	.	.	.	.	.	.	C	11.83	1.755093	0.31046	.	.	ENSG00000124215	ENST00000348616;ENST00000244049;ENST00000350849	T;T;T	0.78246	0.1;-1.16;-1.16	3.8	-0.503	0.12000	.	.	.	.	.	T	0.78916	0.4359	.	.	.	0.09310	N	1	D;D;P	0.64830	0.987;0.994;0.924	P;P;P	0.59889	0.696;0.865;0.461	T	0.66217	-0.5979	8	0.72032	D	0.01	.	0.8941	0.01260	0.1891:0.4108:0.1841:0.216	.	74;115;782	Q8IXH8-5;Q8IXH8-2;Q8IXH8-4	.;.;.	Y	782;74;115	ENSP00000339390:H782Y;ENSP00000244049:H74Y;ENSP00000310845:H115Y	ENSP00000244049:H74Y	H	+	1	0	CDH26	58021025	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.055000	0.11807	-0.045000	0.13468	0.460000	0.39030	CAC		0.552	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		19	180	0	0	0	0	19	180				
CDH4	1002	broad.mit.edu	37	20	60508054	60508054	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr20:60508054C>T	ENST00000360469.5	+	14	2339	c.2251C>T	c.(2251-2253)Ctg>Ttg	p.L751L	CDH4_ENST00000543233.1_Silent_p.L677L	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	751					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L751M(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CATGGTCCTGCTGTTTGTCAT	0.592																																						uc002ybn.1		NA																	1	Substitution - Missense(1)		endometrium(1)	lung(3)|ovary(2)|skin(1)	6						c.(2251-2253)CTG>TTG		cadherin 4, type 1 preproprotein							81.0	57.0	65.0					20																	60508054		2203	4300	6503	SO:0001819	synonymous_variant	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60508054C>T	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.2251C>T	20.37:g.60508054C>T						CDH4_uc002ybp.1_Silent_p.L677L	p.L751L	NM_001794	NP_001785	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		14	2265	+			751			Helical; (Potential).		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Silent	SNP	ENST00000360469.5	37	c.2251C>T	CCDS13488.1																																																																																				0.592	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		4	44	0	0	0	0	4	44				
DIDO1	11083	broad.mit.edu	37	20	61511065	61511065	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr20:61511065C>G	ENST00000266070.4	-	16	6568	c.6243G>C	c.(6241-6243)caG>caC	p.Q2081H	DIDO1_ENST00000395343.1_Missense_Mutation_p.Q2081H	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2081					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTTCGAAAGTCTGGTTTCTGT	0.677																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1		NA																	0				ovary(3)|skin(3)	6						c.(6241-6243)CAG>CAC		death inducer-obliterator 1 isoform c							112.0	125.0	121.0					20																	61511065		2165	4247	6412	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61511065C>G	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.6243G>C	20.37:g.61511065C>G	ENSP00000266070:p.Gln2081His					DIDO1_uc002yds.1_Missense_Mutation_p.Q2081H	p.Q2081H	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			16	6507	-	Breast(26;5.68e-08)		2081					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.6243G>C	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.626218	0.28978	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.12039	2.72;2.72	5.47	2.38	0.29361	.	0.178145	0.26824	N	0.022304	T	0.17916	0.0430	L	0.50333	1.59	0.09310	N	0.999995	D	0.69078	0.997	P	0.55667	0.781	T	0.09530	-1.0670	10	0.42905	T	0.14	-17.1141	3.0304	0.06104	0.1462:0.5586:0.1414:0.1539	.	2081	Q9BTC0	DIDO1_HUMAN	H	2081	ENSP00000266070:Q2081H;ENSP00000378752:Q2081H	ENSP00000266070:Q2081H	Q	-	3	2	DIDO1	60981510	0.007000	0.16637	0.000000	0.03702	0.007000	0.05969	0.261000	0.18442	0.228000	0.21019	0.655000	0.94253	CAG		0.677	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		31	403	0	0	0	0	31	403				
KRTAP10-6	386674	broad.mit.edu	37	21	46011396	46011396	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr21:46011396C>A	ENST00000400368.1	-	1	990	c.970G>T	c.(970-972)Ggt>Tgt	p.G324C	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	324	29 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						GCAGAGGCACCACAGGAGGGG	0.692																																						uc002zfm.2		NA																	0					0						c.(970-972)GGT>TGT		keratin associated protein 10-6							65.0	80.0	75.0					21																	46011396		2201	4300	6501	SO:0001583	missense	386674					keratin filament		g.chr21:46011396C>A	AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"""Keratin associated proteins"""	20523	protein-coding gene	gene with protein product			"""keratin associated protein 18-6"""	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.970G>T	21.37:g.46011396C>A	ENSP00000383219:p.Gly324Cys					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.G324C	NM_198688	NP_941961	P60371	KR106_HUMAN			1	991	-			324			29 X 5 AA repeats of C-C-X(3).			Missense_Mutation	SNP	ENST00000400368.1	37	c.970G>T	CCDS42959.1	.	.	.	.	.	.	.	.	.	.	c	0.012	-1.673896	0.00758	.	.	ENSG00000188155	ENST00000400368	T	0.00724	5.78	2.09	-1.13	0.09775	.	.	.	.	.	T	0.00271	0.0008	N	0.00268	-1.735	0.22728	N	0.99881	B	0.29909	0.261	B	0.35859	0.212	T	0.42224	-0.9464	9	0.02654	T	1	.	7.1271	0.25477	0.543:0.457:0.0:0.0	.	324	P60371	KR106_HUMAN	C	324	ENSP00000383219:G324C	ENSP00000383219:G324C	G	-	1	0	KRTAP10-6	44835824	0.324000	0.24652	0.757000	0.31301	0.145000	0.21501	0.413000	0.21148	-0.363000	0.08101	0.134000	0.15878	GGT		0.692	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1	NM_198688		13	110	1	0	4.37e-10	4.74e-10	13	110				
MCM3AP	8888	broad.mit.edu	37	21	47666772	47666772	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr21:47666772G>A	ENST00000397708.1	-	22	4573	c.4319C>T	c.(4318-4320)gCc>gTc	p.A1440V	MCM3AP_ENST00000291688.1_Missense_Mutation_p.A1440V|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|AP001469.7_ENST00000444966.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1440					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AGCATCAATGGCACCATCACT	0.577																																						uc002zir.1		NA																	0				large_intestine(2)|lung(1)|ovary(1)|skin(1)	5						c.(4318-4320)GCC>GTC		minichromosome maintenance complex component 3							92.0	89.0	90.0					21																	47666772		2203	4300	6503	SO:0001583	missense	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47666772G>A	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.4319C>T	21.37:g.47666772G>A	ENSP00000380820:p.Ala1440Val					MCM3APAS_uc002zim.2_Intron|MCM3APAS_uc002zin.2_Intron|MCM3AP_uc002zio.1_5'UTR|MCM3AP_uc002zip.1_Missense_Mutation_p.A181V|MCM3AP_uc002ziq.1_Missense_Mutation_p.A367V|MCM3APAS_uc002zis.1_Intron	p.A1440V	NM_003906	NP_003897	O60318	MCM3A_HUMAN			21	4355	-	Breast(49;0.112)		1440					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	c.4319C>T	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	G	9.536	1.111999	0.20795	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.03635	3.86;3.86	5.68	3.89	0.44902	.	0.325201	0.36409	N	0.002611	T	0.03651	0.0104	L	0.36672	1.1	0.29936	N	0.821522	B	0.14012	0.009	B	0.14023	0.01	T	0.16394	-1.0404	10	0.44086	T	0.13	-9.6538	7.4446	0.27203	0.1464:0.0:0.6886:0.165	.	1440	O60318	MCM3A_HUMAN	V	1440	ENSP00000380820:A1440V;ENSP00000291688:A1440V	ENSP00000291688:A1440V	A	-	2	0	MCM3AP	46491200	1.000000	0.71417	0.762000	0.31397	0.065000	0.16274	1.780000	0.38634	0.782000	0.33613	0.650000	0.86243	GCC		0.577	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		16	197	0	0	0	0	16	197				
ZNF74	7625	broad.mit.edu	37	22	20761221	20761221	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr22:20761221G>A	ENST00000400451.2	+	5	2412	c.1898G>A	c.(1897-1899)gGc>gAc	p.G633D	ZNF74_ENST00000405993.1_Missense_Mutation_p.G601D|ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000403682.3_3'UTR|ZNF74_ENST00000356671.5_Missense_Mutation_p.G633D	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	633					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CCCAGAGCTGGCAGGAATTTC	0.572																																						uc010gsm.2		NA																	0				ovary(1)	1						c.(1897-1899)GGC>GAC		zinc finger protein 74							41.0	45.0	44.0					22																	20761221		2042	4186	6228	SO:0001583	missense	7625				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr22:20761221G>A	X71623	CCDS42982.1, CCDS58794.1	22q11.2	2013-01-08	2006-05-12		ENSG00000185252	ENSG00000185252		"""Zinc fingers, C2H2-type"", ""-"""	13144	protein-coding gene	gene with protein product		194548	"""zinc finger protein 74 (Cos52)"""			1639391, 10591208	Standard	NM_003426		Approved	Cos52, Zfp520, ZNF520	uc010gsm.4	Q16587	OTTHUMG00000150687	ENST00000400451.2:c.1898G>A	22.37:g.20761221G>A	ENSP00000383301:p.Gly633Asp					ZNF74_uc002zsg.2_Missense_Mutation_p.G562D|ZNF74_uc002zsh.2_Missense_Mutation_p.G633D|ZNF74_uc002zsi.2_Missense_Mutation_p.G562D|ZNF74_uc010gsn.2_Missense_Mutation_p.G562D	p.G633D	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		6	2110	+	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	633					B5MCE3|B7Z5Y2|Q6IBV2|Q6PJP1|Q9UC04|Q9UF05|Q9UF06|Q9UF07	Missense_Mutation	SNP	ENST00000400451.2	37	c.1898G>A	CCDS42982.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.711976	0.48517	.	.	ENSG00000185252	ENST00000400451;ENST00000356671;ENST00000405993	T;T;T	0.05580	3.5;3.5;3.42	4.1	2.02	0.26589	.	0.163209	0.29328	N	0.012464	T	0.05686	0.0149	L	0.38175	1.15	0.22648	N	0.998893	B	0.20550	0.046	B	0.17098	0.017	T	0.30794	-0.9966	10	0.62326	D	0.03	.	8.4559	0.32899	0.1899:0.0:0.8101:0.0	.	633	Q16587	ZNF74_HUMAN	D	633;633;601	ENSP00000383301:G633D;ENSP00000349098:G633D;ENSP00000385855:G601D	ENSP00000349098:G633D	G	+	2	0	ZNF74	19091221	0.657000	0.27393	0.050000	0.19076	0.039000	0.13416	0.927000	0.28818	0.680000	0.31366	0.563000	0.77884	GGC		0.572	ZNF74-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319648.2	NM_003426		8	59	0	0	0	0	8	59				
CACNA1I	8911	broad.mit.edu	37	22	40075794	40075794	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr22:40075794T>C	ENST00000402142.3	+	33	5462	c.5462T>C	c.(5461-5463)aTc>aCc	p.I1821T	CACNA1I_ENST00000404898.1_Missense_Mutation_p.I1786T|CACNA1I_ENST00000336649.4_Missense_Mutation_p.I1827T|CACNA1I_ENST00000401624.1_Missense_Mutation_p.I1821T|CACNA1I_ENST00000407673.1_Missense_Mutation_p.I1786T|CACNA1I_ENST00000400164.3_Missense_Mutation_p.I1786T	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1821					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	CTGACCATCATCGACAACCTG	0.617																																						uc003ayc.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(5461-5463)ATC>ACC		calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						46.0	51.0	50.0					22																	40075794		2023	4178	6201	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40075794T>C	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.5462T>C	22.37:g.40075794T>C	ENSP00000385019:p.Ile1821Thr					CACNA1I_uc003ayd.2_Missense_Mutation_p.I1786T|CACNA1I_uc003aye.2_Missense_Mutation_p.I1736T|CACNA1I_uc003ayf.2_Missense_Mutation_p.I1701T	p.I1821T	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN			33	5462	+	Melanoma(58;0.0749)		1821			Cytoplasmic (Potential).		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.5462T>C	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	T	11.92	1.781988	0.31502	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.97994	-4.63;-4.61;-4.55;-4.51;-4.65;-4.57	4.13	4.13	0.48395	.	452.504000	0.00166	N	0.000001	D	0.98563	0.9520	M	0.62723	1.935	0.48830	D	0.999717	D;D;D;D	0.89917	0.989;0.989;1.0;0.999	D;D;D;D	0.83275	0.985;0.985;0.996;0.991	D	0.92896	0.6335	10	0.30078	T	0.28	.	13.4591	0.61217	0.0:0.0:0.0:1.0	.	1786;1821;1786;1821	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	T	1821;1786;1821;1786;1827;1786	ENSP00000385019:I1821T;ENSP00000384093:I1786T;ENSP00000383887:I1821T;ENSP00000385680:I1786T;ENSP00000337829:I1827T;ENSP00000383028:I1786T	ENSP00000337829:I1827T	I	+	2	0	CACNA1I	38405740	1.000000	0.71417	1.000000	0.80357	0.206000	0.24218	7.554000	0.82212	1.631000	0.50456	0.459000	0.35465	ATC		0.617	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		3	23	0	0	0	0	3	23				
MEI1	150365	broad.mit.edu	37	22	42154484	42154484	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr22:42154484G>A	ENST00000401548.3	+	18	2107	c.2067G>A	c.(2065-2067)caG>caA	p.Q689Q	MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000540880.1_Silent_p.Q7Q|MEI1_ENST00000400107.1_Silent_p.Q57Q|MEI1_ENST00000540833.1_Silent_p.Q429Q	NM_152513.3	NP_689726.3			meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CTGCTCGCCAGAGACAGTACT	0.582																																						uc003baz.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(2065-2067)CAG>CAA		meiosis defective 1							55.0	56.0	56.0					22																	42154484		2044	4180	6224	SO:0001819	synonymous_variant	150365						binding	g.chr22:42154484G>A	AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"""spermatogenesis associated 38"""	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.2067G>A	22.37:g.42154484G>A						WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|MEI1_uc011apd.1_RNA|MEI1_uc003bbb.1_Silent_p.Q57Q|MEI1_uc003bbc.1_Silent_p.Q57Q|MEI1_uc010gym.1_Silent_p.Q57Q|MEI1_uc003bbd.1_5'UTR	p.Q689Q	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN			18	2092	+			689						Silent	SNP	ENST00000401548.3	37	c.2067G>A	CCDS46718.1																																																																																				0.582	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3	NM_152513		6	44	0	0	0	0	6	44				
EFCAB6	64800	broad.mit.edu	37	22	43985982	43985982	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr22:43985982C>T	ENST00000262726.7	-	24	3257	c.3004G>A	c.(3004-3006)Gaa>Aaa	p.E1002K	EFCAB6_ENST00000396231.2_Missense_Mutation_p.E850K	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1002					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				AGCTCCCCTTCGGTAAGAGAA	0.408																																						uc003bdy.1		NA																	0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7						c.(3004-3006)GAA>AAA		CAP-binding protein complex interacting protein							250.0	219.0	230.0					22																	43985982		2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:43985982C>T	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.3004G>A	22.37:g.43985982C>T	ENSP00000262726:p.Glu1002Lys					EFCAB6_uc003bdz.1_Missense_Mutation_p.E850K|EFCAB6_uc010gzi.1_Missense_Mutation_p.E850K|EFCAB6_uc010gzj.1_Missense_Mutation_p.E228K	p.E1002K	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN			24	3219	-		Ovarian(80;0.0247)|all_neural(38;0.025)	1002					A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.3004G>A	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.271387	0.40194	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	D;D	0.83335	-1.71;-1.71	4.73	3.7	0.42460	EF-hand-like domain (1);	0.249758	0.31577	N	0.007417	T	0.80166	0.4573	L	0.59436	1.845	0.09310	N	0.999999	D;P	0.61697	0.99;0.945	P;P	0.51170	0.661;0.536	T	0.69300	-0.5181	10	0.22109	T	0.4	-16.3336	4.7128	0.12880	0.1539:0.6109:0.1494:0.0857	.	850;1002	Q5THR3-2;Q5THR3	.;EFCB6_HUMAN	K	850;1002	ENSP00000379533:E850K;ENSP00000262726:E1002K	ENSP00000262726:E1002K	E	-	1	0	EFCAB6	42317315	0.031000	0.19500	0.053000	0.19242	0.027000	0.11550	0.602000	0.24134	2.346000	0.79739	0.555000	0.69702	GAA		0.408	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		22	193	0	0	0	0	22	193				
SELO	83642	broad.mit.edu	37	22	50647025	50647025	+	Silent	SNP	C	C	T	rs371385114		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr22:50647025C>T	ENST00000380903.2	+	3	877	c.819C>T	c.(817-819)agC>agT	p.S273S	RP3-402G11.28_ENST00000608016.1_RNA|RP3-402G11.27_ENST00000610050.1_RNA|SELO_ENST00000492092.1_3'UTR	NM_031454.1	NP_113642.1	Q9BVL4	SELO_HUMAN		273													all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CAGGCCCCAGCGTGGGGAGGA	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		15473	0.0		0.0	False		,,,				2504	0.001					uc011arr.1		NA																	0					0						c.(817-819)AGC>AGT		selenoprotein O		C		0,4104		0,0,2052	76.0	85.0	82.0		819	-9.1	0.3	22		82	1,8391		0,1,4195	no	coding-synonymous	SELO	NM_031454.1		0,1,6247	TT,TC,CC		0.0119,0.0,0.0080		273/670	50647025	1,12495	2052	4196	6248	SO:0001819	synonymous_variant	83642							g.chr22:50647025C>T																												ENST00000380903.2:c.819C>T	22.37:g.50647025C>T						SELO_uc010hap.2_Silent_p.S84S|SELO_uc003bjy.2_5'UTR|SELO_uc003bjz.2_5'Flank	p.S273S	NM_031454	NP_113642	Q9BVL4	SELO_HUMAN		LUAD - Lung adenocarcinoma(64;0.105)	3	877	+		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)	273					Q2TAL2|Q5JZ81|Q8WUI0	Silent	SNP	ENST00000380903.2	37	c.819C>T	CCDS43034.1																																																																																				0.567	SELO-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000075003.2			14	158	0	0	0	0	14	158				
TUBGCP6	85378	broad.mit.edu	37	22	50654267	50654267	+	IGR	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr22:50654267G>A	ENST00000248846.5	-	0	5612				SELO_ENST00000380903.2_Silent_p.R491R|TUBGCP6_ENST00000491449.1_5'Flank|SELO_ENST00000492092.1_3'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6						G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AGGAGCTGAGGCTGGCCTTCC	0.572																																						uc011arr.1		NA																	0					0						c.(1471-1473)AGG>AGA		selenoprotein O							51.0	60.0	57.0					22																	50654267		2043	4184	6227	SO:0001628	intergenic_variant	83642							g.chr22:50654267G>A	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150		22.37:g.50654267G>A						SELO_uc010hap.2_Silent_p.R302R|SELO_uc003bjy.2_Silent_p.R171R|SELO_uc003bjz.2_Missense_Mutation_p.A244T	p.R491R	NM_031454	NP_113642	Q9BVL4	SELO_HUMAN		LUAD - Lung adenocarcinoma(64;0.105)	6	1531	+		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)	491					Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Silent	SNP	ENST00000248846.5	37	c.1473G>A	CCDS14087.1																																																																																				0.572	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		10	124	0	0	0	0	10	124				
EDEM1	9695	broad.mit.edu	37	3	5249942	5249942	+	Silent	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:5249942C>G	ENST00000256497.4	+	8	1636	c.1503C>G	c.(1501-1503)ctC>ctG	p.L501L	EDEM1_ENST00000445686.1_Silent_p.L306L	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	501					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	calcium ion binding (GO:0005509)|misfolded protein binding (GO:0051787)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		CATATCTCCTCTACCAGGTAC	0.463																																						uc003bqi.2		NA																	0				ovary(2)|breast(1)	3						c.(1501-1503)CTC>CTG		ER degradation enhancer, mannosidase alpha-like							94.0	92.0	93.0					3																	5249942		2203	4300	6503	SO:0001819	synonymous_variant	9695				ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr3:5249942C>G	D86967	CCDS33686.1	3p26.1	2008-02-05			ENSG00000134109	ENSG00000134109			18967	protein-coding gene	gene with protein product		607673				12610306	Standard	NM_014674		Approved	KIAA0212, EDEM	uc003bqi.3	Q92611	OTTHUMG00000154896	ENST00000256497.4:c.1503C>G	3.37:g.5249942C>G						EDEM1_uc011asz.1_Silent_p.L279L|EDEM1_uc003bqh.2_Silent_p.L501L	p.L501L	NM_014674	NP_055489	Q92611	EDEM1_HUMAN		Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)	8	1635	+			501			Lumenal (Potential).		A8K9C8|B4DXP3	Silent	SNP	ENST00000256497.4	37	c.1503C>G	CCDS33686.1																																																																																				0.463	EDEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337566.2	NM_014674		7	140	0	0	0	0	7	140				
FANCD2OS	115795	broad.mit.edu	37	3	10146171	10146171	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:10146171G>A	ENST00000450660.2	-	2	504	c.288C>T	c.(286-288)ctC>ctT	p.L96L	FANCD2OS_ENST00000524279.1_Silent_p.L96L	NM_001164839.1	NP_001158311.1	Q96PS1	FACOS_HUMAN	FANCD2 opposite strand	96																	CTACTCCACTGAGGCGGATGG	0.517																																						uc003buz.2		NA																	0					0						c.(286-288)CTC>CTT		hypothetical protein LOC115795							119.0	110.0	113.0					3																	10146171		2203	4300	6503	SO:0001819	synonymous_variant	115795							g.chr3:10146171G>A	AF230334	CCDS2596.1	3p25.3	2012-11-12	2012-11-12	2012-11-12	ENSG00000163705	ENSG00000163705			28623	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 24"""	C3orf24		12477932	Standard	NM_001164839		Approved	MGC40179	uc003buz.3	Q96PS1	OTTHUMG00000128669	ENST00000450660.2:c.288C>T	3.37:g.10146171G>A						C3orf24_uc003bva.1_Silent_p.L96L	p.L96L	NM_173472	NP_775743	Q96PS1	CC024_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.196)	2	513	-			96						Silent	SNP	ENST00000450660.2	37	c.288C>T	CCDS2596.1																																																																																				0.517	FANCD2OS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339891.2	NM_173472		14	129	0	0	0	0	14	129				
HRH1	3269	broad.mit.edu	37	3	11302128	11302128	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:11302128C>T	ENST00000397056.1	+	3	1596	c.1405C>T	c.(1405-1407)Ccc>Tcc	p.P469S	HRH1_ENST00000438284.2_Missense_Mutation_p.P469S|HRH1_ENST00000431010.2_Missense_Mutation_p.P469S	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	469					cellular response to histamine (GO:0071420)|eosinophil chemotaxis (GO:0048245)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|inositol phosphate-mediated signaling (GO:0048016)|memory (GO:0007613)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|regulation of vascular permeability (GO:0043114)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|histamine receptor activity (GO:0004969)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Alcaftadine(DB06766)|Alimemazine(DB01246)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Antazoline(DB08799)|Aripiprazole(DB01238)|Asenapine(DB06216)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzatropine(DB00245)|Bepotastine(DB04890)|Betahistine(DB06698)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlorcyclizine(DB08936)|Chloropyramine(DB08800)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clemastine(DB00283)|Clofedanol(DB04837)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Dimetindene(DB08801)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Escitalopram(DB01175)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Iloperidone(DB04946)|Imipramine(DB00458)|Isothipendyl(DB08802)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Loxapine(DB00408)|Maprotiline(DB00934)|Meclizine(DB00737)|Mepyramine(DB06691)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Paliperidone(DB01267)|Phenindamine(DB01619)|Pheniramine(DB01620)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	CCTCATCTACCCCTTGTGCAA	0.458																																						uc010hdr.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(1405-1407)CCC>TCC		histamine receptor H1	Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)						160.0	172.0	168.0					3																	11302128		2203	4300	6503	SO:0001583	missense	3269				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity	g.chr3:11302128C>T		CCDS2604.1	3p25	2012-11-12			ENSG00000196639	ENSG00000196639		"""GPCR / Class A : Histamine receptors"""	5182	protein-coding gene	gene with protein product		600167				8003029	Standard	NM_001098211		Approved		uc010hds.3	P35367	OTTHUMG00000129719	ENST00000397056.1:c.1405C>T	3.37:g.11302128C>T	ENSP00000380247:p.Pro469Ser					HRH1_uc010hds.2_Missense_Mutation_p.P469S|HRH1_uc010hdt.2_Missense_Mutation_p.P469S|HRH1_uc003bwb.3_Missense_Mutation_p.P469S	p.P469S	NM_001098213	NP_001091683	P35367	HRH1_HUMAN			2	1747	+			469			Helical; Name=7; (Potential).		A8K047|Q6P9E5	Missense_Mutation	SNP	ENST00000397056.1	37	c.1405C>T	CCDS2604.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240659	0.79912	.	.	ENSG00000196639	ENST00000438284;ENST00000431010;ENST00000397056	T;T;T	0.34275	1.37;1.37;1.37	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.49712	0.1573	N	0.21617	0.685	0.58432	D	0.999993	D	0.89917	1.0	D	0.91635	0.999	T	0.40403	-0.9565	10	0.41790	T	0.15	-21.0992	20.6634	0.99662	0.0:1.0:0.0:0.0	.	469	P35367	HRH1_HUMAN	S	469	ENSP00000406705:P469S;ENSP00000397028:P469S;ENSP00000380247:P469S	ENSP00000380247:P469S	P	+	1	0	HRH1	11277128	1.000000	0.71417	0.998000	0.56505	0.912000	0.54170	4.789000	0.62446	2.894000	0.99253	0.655000	0.94253	CCC		0.458	HRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251928.2			29	294	0	0	0	0	29	294				
STT3B	201595	broad.mit.edu	37	3	31665334	31665334	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:31665334G>A	ENST00000295770.2	+	11	1917	c.1708G>A	c.(1708-1710)Gcc>Acc	p.A570T		NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	570					co-translational protein modification (GO:0043686)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						TGTAGTCCTGGCCTCATACAA	0.373																																						uc011axe.1		NA																	0					0						c.(1708-1710)GCC>ACC		source of immunodominant MHC-associated							195.0	169.0	178.0					3																	31665334		2203	4300	6503	SO:0001583	missense	201595				protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	g.chr3:31665334G>A	AK027789	CCDS2650.1	3p24.1	2013-03-06	2013-03-06		ENSG00000163527	ENSG00000163527	2.4.99.18		30611	protein-coding gene	gene with protein product	"""source of immunodominant MHC associated peptides"", ""dolichyl-diphosphooligosaccharide protein glycotransferase"""	608605	"""STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae)"""			12887896, 12439619	Standard	XM_006713017		Approved	SIMP, FLJ90106, STT3-B	uc011axe.2	Q8TCJ2	OTTHUMG00000130673	ENST00000295770.2:c.1708G>A	3.37:g.31665334G>A	ENSP00000295770:p.Ala570Thr						p.A570T	NM_178862	NP_849193	Q8TCJ2	STT3B_HUMAN			11	1708	+			570					Q96JZ4|Q96KY7	Missense_Mutation	SNP	ENST00000295770.2	37	c.1708G>A	CCDS2650.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.031830	0.93575	.	.	ENSG00000163527	ENST00000295770	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.76828	0.4042	M	0.75615	2.305	0.80722	D	1	P	0.48640	0.913	P	0.58172	0.834	T	0.73004	-0.4119	9	0.31617	T	0.26	-0.1555	19.7914	0.96458	0.0:0.0:1.0:0.0	.	570	Q8TCJ2	STT3B_HUMAN	T	570	.	ENSP00000295770:A570T	A	+	1	0	STT3B	31640338	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.992000	0.88273	2.759000	0.94783	0.561000	0.74099	GCC		0.373	STT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253166.2	NM_178862		14	117	0	0	0	0	14	117				
ZNF860	344787	broad.mit.edu	37	3	32030595	32030595	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:32030595G>C	ENST00000360311.4	+	2	573	c.24G>C	c.(22-24)caG>caC	p.Q8H		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	8					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(3)|lung(4)|ovary(1)	8						AAGCAGCTCAGAAGAGGAAAG	0.468																																						uc011axg.1		NA																	0				ovary(1)	1						c.(22-24)CAG>CAC		zinc finger protein 860							32.0	29.0	30.0					3																	32030595		692	1591	2283	SO:0001583	missense	344787				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:32030595G>C	AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"""Zinc fingers, C2H2-type"", ""-"""	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.24G>C	3.37:g.32030595G>C	ENSP00000373274:p.Gln8His						p.Q8H	NM_001137674	NP_001131146	A6NHJ4	ZN860_HUMAN			2	573	+			8					B4DFA4	Missense_Mutation	SNP	ENST00000360311.4	37	c.24G>C	CCDS46784.1	.	.	.	.	.	.	.	.	.	.	G	8.106	0.777663	0.16120	.	.	ENSG00000197385	ENST00000360311	T	0.05717	3.4	0.47	0.47	0.16747	.	.	.	.	.	T	0.11153	0.0272	L	0.54323	1.7	0.09310	N	1	P	0.51240	0.943	P	0.55667	0.781	T	0.20306	-1.0279	8	.	.	.	.	2.8664	0.05603	0.389:0.0:0.6109:0.0	.	8	A6NHJ4	ZN860_HUMAN	H	8	ENSP00000373274:Q8H	.	Q	+	3	2	ZNF860	32005599	0.069000	0.21087	0.003000	0.11579	0.227000	0.25037	0.317000	0.19487	0.501000	0.28013	0.185000	0.17295	CAG		0.468	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341957.1			10	104	0	0	0	0	10	104				
TMPPE	643853	broad.mit.edu	37	3	33135566	33135566	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:33135566C>T	ENST00000342462.4	-	2	312	c.122G>A	c.(121-123)cGt>cAt	p.R41H	GLB1_ENST00000307363.5_Intron|GLB1_ENST00000399402.3_Intron|TMPPE_ENST00000416695.2_Intron|GLB1_ENST00000307377.8_Intron|GLB1_ENST00000445488.2_Intron	NM_001039770.2	NP_001034859.2	Q6ZT21	TMPPE_HUMAN	transmembrane protein with metallophosphoesterase domain	41						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						AAGCAGCCAACGCCAGGCCCT	0.602																																						uc003cfk.2		NA																	0					0						c.(121-123)CGT>CAT		transmembrane protein with							51.0	46.0	48.0					3																	33135566		2203	4300	6503	SO:0001583	missense	643853					integral to membrane	metal ion binding	g.chr3:33135566C>T	AK126979	CCDS33732.1, CCDS46786.1	3p22.3	2014-02-12	2009-02-24		ENSG00000188167	ENSG00000188167			33865	protein-coding gene	gene with protein product							Standard	NM_001039770		Approved	FLJ45032	uc003cfk.2	Q6ZT21	OTTHUMG00000155779	ENST00000342462.4:c.122G>A	3.37:g.33135566C>T	ENSP00000343398:p.Arg41His					GLB1_uc003cfh.1_Intron|GLB1_uc003cfi.1_Intron|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Intron|TMPPE_uc011axl.1_Intron	p.R41H	NM_001039770	NP_001034859	Q6ZT21	TMPPE_HUMAN			2	313	-			41					B2RNG5|Q6ZRG1	Missense_Mutation	SNP	ENST00000342462.4	37	c.122G>A	CCDS33732.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.150697	0.57151	.	.	ENSG00000188167	ENST00000342462	.	.	.	5.5	5.5	0.81552	.	0.262338	0.24779	U	0.035665	T	0.27933	0.0688	L	0.29908	0.895	0.28619	N	0.90829	B	0.22541	0.071	B	0.14578	0.011	T	0.10706	-1.0618	9	0.21540	T	0.41	-6.6954	8.908	0.35535	0.0:0.8688:0.0:0.1312	.	41	Q6ZT21	TMPPE_HUMAN	H	41	.	ENSP00000343398:R41H	R	-	2	0	TMPPE	33110570	0.888000	0.30383	0.959000	0.39883	0.995000	0.86356	1.448000	0.35112	2.588000	0.87417	0.561000	0.74099	CGT		0.602	TMPPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341566.1	NM_001039770		6	63	0	0	0	0	6	63				
MLH1	4292	broad.mit.edu	37	3	37059048	37059048	+	Missense_Mutation	SNP	C	C	T	rs63749950		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:37059048C>T	ENST00000231790.2	+	10	1058	c.842C>T	c.(841-843)gCa>gTa	p.A281V	MLH1_ENST00000539477.1_Missense_Mutation_p.A40V|MLH1_ENST00000435176.1_Missense_Mutation_p.A183V|MLH1_ENST00000458205.2_Missense_Mutation_p.A40V|MLH1_ENST00000536378.1_Missense_Mutation_p.A40V|MLH1_ENST00000455445.2_Missense_Mutation_p.A40V	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	281			Missing (in HNPCC2).		ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						ACAGTGTATGCAGCCTATTTG	0.428		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													uc003cgl.2		1	yes	Rec	yes	"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	3	3p21.3	4292	D|Mis|N|F|S	E.coli MutL homolog gene			"""E, O"""		colorectal|endometrial|ovarian|CNS	colorectal|endometrial|ovarian|CNS		1	Whole gene deletion(1)	p.0?(1)	ovary(1)	large_intestine(40)|haematopoietic_and_lymphoid_tissue(8)|ovary(6)|pancreas(5)|stomach(3)|central_nervous_system(3)|endometrium(3)|breast(3)|prostate(3)|skin(2)|NS(1)	77	GRCh37	CM076306	MLH1	M		c.(841-843)GCA>GTA	MMR	MutL protein homolog 1							229.0	202.0	211.0					3																	37059048		2203	4300	6503	SO:0001583	missense	4292	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	g.chr3:37059048C>T	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"""mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)"", ""mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"""	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.842C>T	3.37:g.37059048C>T	ENSP00000231790:p.Ala281Val					MLH1_uc011aye.1_Missense_Mutation_p.A40V|MLH1_uc011ayb.1_Missense_Mutation_p.A40V|MLH1_uc010hge.2_Missense_Mutation_p.A281V|MLH1_uc003cgn.3_Missense_Mutation_p.A40V|MLH1_uc011ayc.1_Missense_Mutation_p.A183V|MLH1_uc011ayd.1_Missense_Mutation_p.A40V|MLH1_uc003cgo.2_Missense_Mutation_p.A40V|MLH1_uc010hgg.1_Intron|MLH1_uc010hgh.1_Intron|MLH1_uc010hgi.1_5'UTR|MLH1_uc010hgj.1_Intron|MLH1_uc010hgk.2_Intron|MLH1_uc010hgl.1_5'UTR	p.A281V	NM_000249	NP_000240	P40692	MLH1_HUMAN			10	902	+			281		Missing (in HNPCC2).			B4DI13|B4DQ11|E9PCU2	Missense_Mutation	SNP	ENST00000231790.2	37	c.842C>T	CCDS2663.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.1|21.1	4.092865|4.092865	0.76756|0.76756	.|.	.|.	ENSG00000076242|ENSG00000076242	ENST00000231790;ENST00000436867;ENST00000537937;ENST00000383761;ENST00000458205;ENST00000539477;ENST00000455445;ENST00000435176;ENST00000441265;ENST00000536378|ENST00000456676	D;D;D;D;D;D;D|.	0.81659|.	-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52|.	5.35|5.35	4.47|4.47	0.54385|0.54385	Ribosomal protein S5 domain 2-type fold (1);DNA mismatch repair protein, N-terminal (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);DNA mismatch repair protein, C-terminal (1);|.	0.168594|.	0.52532|.	D|.	0.000066|.	T|.	0.77432|.	0.4129|.	M|M	0.85710|0.85710	2.77|2.77	0.58432|0.58432	D|D	0.999998|0.999998	P;B;B|.	0.41041|.	0.736;0.314;0.314|.	P;B;B|.	0.46026|.	0.501;0.248;0.248|.	T|.	0.80056|.	-0.1542|.	10|.	0.72032|.	D|.	0.01|.	-15.2679|-15.2679	13.4218|13.4218	0.61003|0.61003	0.0:0.9246:0.0:0.0754|0.0:0.9246:0.0:0.0754	rs63749950|rs63749950	183;281;281|.	E9PCU2;Q53GX1;P40692|.	.;.;MLH1_HUMAN|.	V|X	281;247;247;145;40;40;40;183;40;40|273	ENSP00000231790:A281V;ENSP00000402667:A40V;ENSP00000443665:A40V;ENSP00000398272:A40V;ENSP00000402564:A183V;ENSP00000398392:A40V;ENSP00000444286:A40V|.	ENSP00000231790:A281V|.	A|Q	+|+	2|1	0|0	MLH1|MLH1	37034052|37034052	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.927000|0.927000	0.56198|0.56198	5.784000|5.784000	0.68990|0.68990	2.501000|2.501000	0.84356|0.84356	0.591000|0.591000	0.81541|0.81541	GCA|CAG		0.428	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249		21	153	0	0	0	0	21	153				
RTP3	83597	broad.mit.edu	37	3	46542332	46542332	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:46542332C>G	ENST00000296142.3	+	2	1214	c.642C>G	c.(640-642)ttC>ttG	p.F214L		NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN	receptor (chemosensory) transporter protein 3	214					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|protein targeting to membrane (GO:0006612)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		TAAGCATTTTCTGCTGTTGTG	0.408																																						uc003cps.1		NA																	0				ovary(2)	2						c.(640-642)TTC>TTG		transmembrane protein 7							66.0	66.0	66.0					3																	46542332		2202	4300	6502	SO:0001583	missense	83597				detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding	g.chr3:46542332C>G	AJ312776	CCDS2740.1	3p21.3	2014-02-20	2006-11-21	2006-02-07	ENSG00000163825	ENSG00000163825		"""Receptor transporter proteins"""	15572	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 3"""	607181	"""transmembrane protein 7"", ""receptor transporter protein 3"""	TMEM7		16271481, 15550249, 16720576	Standard	NM_031440		Approved	LTM1, Z3CXXC3	uc003cps.1	Q9BQQ7	OTTHUMG00000133483	ENST00000296142.3:c.642C>G	3.37:g.46542332C>G	ENSP00000296142:p.Phe214Leu						p.F214L	NM_031440	NP_113628	Q9BQQ7	RTP3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)	2	710	+			214			Helical; (Potential).		A2RRP6	Missense_Mutation	SNP	ENST00000296142.3	37	c.642C>G	CCDS2740.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.651926	0.00785	.	.	ENSG00000163825	ENST00000296142	T	0.16597	2.33	2.25	1.36	0.22044	.	5.989270	0.00447	N	0.000096	T	0.08935	0.0221	N	0.14661	0.345	0.09310	N	1	B	0.13594	0.008	B	0.06405	0.002	T	0.25433	-1.0132	10	0.02654	T	1	1.1948	4.3631	0.11211	0.0:0.6683:0.0:0.3317	.	214	Q9BQQ7	RTP3_HUMAN	L	214	ENSP00000296142:F214L	ENSP00000296142:F214L	F	+	3	2	RTP3	46517336	0.001000	0.12720	0.002000	0.10522	0.009000	0.06853	-0.620000	0.05565	0.512000	0.28257	0.462000	0.41574	TTC		0.408	RTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257379.2	NM_031440		12	173	0	0	0	0	12	173				
PTPN23	25930	broad.mit.edu	37	3	47448072	47448072	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:47448072G>A	ENST00000265562.4	+	8	806	c.729G>A	c.(727-729)atG>atA	p.M243I	PTPN23_ENST00000431726.1_Missense_Mutation_p.M117I	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	243	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTGTGCAGATGAAGATCTACT	0.617																																						uc003crf.1		NA																	0				breast(1)|central_nervous_system(1)|skin(1)	3						c.(727-729)ATG>ATA		protein tyrosine phosphatase, non-receptor type							37.0	43.0	41.0					3																	47448072		2203	4300	6503	SO:0001583	missense	25930				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	g.chr3:47448072G>A	AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.729G>A	3.37:g.47448072G>A	ENSP00000265562:p.Met243Ile					PTPN23_uc011baw.1_Missense_Mutation_p.M208I|PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Missense_Mutation_p.M113I	p.M243I	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	8	825	+			243			BRO1.		A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Missense_Mutation	SNP	ENST00000265562.4	37	c.729G>A	CCDS2754.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.125817	0.56721	.	.	ENSG00000076201	ENST00000456408;ENST00000265562	T	0.15952	2.38	5.61	5.61	0.85477	BRO1 domain (3);	0.000000	0.85682	D	0.000000	T	0.11452	0.0279	N	0.11560	0.145	0.80722	D	1	B;B	0.22851	0.003;0.076	B;B	0.24155	0.01;0.051	T	0.23084	-1.0198	10	0.20519	T	0.43	-34.1291	18.4111	0.90550	0.0:0.0:1.0:0.0	.	117;243	B4DST5;Q9H3S7	.;PTN23_HUMAN	I	208;243	ENSP00000265562:M243I	ENSP00000265562:M243I	M	+	3	0	PTPN23	47423076	1.000000	0.71417	1.000000	0.80357	0.510000	0.34073	7.845000	0.86875	2.649000	0.89929	0.650000	0.86243	ATG		0.617	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	NM_015466		5	66	0	0	0	0	5	66				
AMT	275	broad.mit.edu	37	3	49455119	49455119	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:49455119G>A	ENST00000273588.3	-	9	1368	c.1066C>T	c.(1066-1068)Ctg>Ttg	p.L356L	AMT_ENST00000546031.1_Silent_p.L259L|AMT_ENST00000458307.2_Silent_p.L312L|AMT_ENST00000476226.1_5'UTR|AMT_ENST00000395338.2_Silent_p.L356L|AMT_ENST00000538581.1_Silent_p.L300L	NM_000481.3	NP_000472.2	P48728	GCST_HUMAN	aminomethyltransferase	356					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|transaminase activity (GO:0008483)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Tetrahydrofolic acid(DB00116)	TTCTTCTTCAGAGAGGGGGAG	0.592																																						uc003cww.2		NA																	0				ovary(1)	1						c.(1066-1068)CTG>TTG		aminomethyltransferase isoform 1 precursor	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						69.0	72.0	71.0					3																	49455119		2203	4300	6503	SO:0001819	synonymous_variant	275				glycine catabolic process	mitochondrion	aminomethyltransferase activity|transaminase activity	g.chr3:49455119G>A	D13811	CCDS2797.1, CCDS54583.1, CCDS54584.1, CCDS54585.1	3p21.2-p21.1	2014-09-17	2006-05-22		ENSG00000145020	ENSG00000145020	2.1.2.10		473	protein-coding gene	gene with protein product	"""glycine cleavage system protein T"""	238310	"""aminomethyltransferase (glycine cleavage system protein T)"""			1993704, 8188235	Standard	NM_000481		Approved	GCST, NKH	uc003cww.3	P48728	OTTHUMG00000156847	ENST00000273588.3:c.1066C>T	3.37:g.49455119G>A						AMT_uc011bcn.1_3'UTR|AMT_uc003cwx.2_Silent_p.L356L|AMT_uc011bco.1_Silent_p.L312L|AMT_uc003cwy.2_Silent_p.L308L|AMT_uc011bcp.1_Silent_p.L259L|AMT_uc011bcq.1_Silent_p.L300L	p.L356L	NM_000481	NP_000472	P48728	GCST_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	9	1195	-			356					A8K3I5|B4DE61|B4DJQ0|E9PBG1|Q96IG6	Silent	SNP	ENST00000273588.3	37	c.1066C>T	CCDS2797.1	.	.	.	.	.	.	.	.	.	.	G	1.070	-0.670083	0.03403	.	.	ENSG00000145020	ENST00000427987	T	0.77620	-1.11	4.75	3.88	0.44766	.	.	.	.	.	T	0.80618	0.4657	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.80329	-0.1428	6	0.87932	D	0	-11.8844	7.3682	0.26785	0.1983:0.0:0.8017:0.0	.	.	.	.	F	353	ENSP00000403821:S353F	ENSP00000403821:S353F	S	-	2	0	AMT	49430123	1.000000	0.71417	1.000000	0.80357	0.214000	0.24535	3.325000	0.52030	1.012000	0.39366	0.563000	0.77884	TCT		0.592	AMT-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346216.2	NM_000481		11	123	0	0	0	0	11	123				
BSN	8927	broad.mit.edu	37	3	49698774	49698774	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:49698774A>G	ENST00000296452.4	+	6	9610	c.9496A>G	c.(9496-9498)Agc>Ggc	p.S3166G		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3166					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GGTGATCGCCAGCCCCGTTGT	0.627																																						uc003cxe.3		NA																	0				ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(9496-9498)AGC>GGC		bassoon protein							81.0	64.0	69.0					3																	49698774		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49698774A>G	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.9496A>G	3.37:g.49698774A>G	ENSP00000296452:p.Ser3166Gly						p.S3166G	NM_003458	NP_003449	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	6	9610	+			3166					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.9496A>G	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	A	9.589	1.125534	0.20959	.	.	ENSG00000164061	ENST00000296452	T	0.18174	2.23	5.06	3.88	0.44766	.	0.104577	0.64402	D	0.000007	T	0.11452	0.0279	N	0.22421	0.69	0.29873	N	0.826641	B	0.17465	0.022	B	0.16722	0.016	T	0.06058	-1.0848	10	0.46703	T	0.11	-11.0607	9.5031	0.39031	0.8552:0.0:0.1448:0.0	.	3166	Q9UPA5	BSN_HUMAN	G	3166	ENSP00000296452:S3166G	ENSP00000296452:S3166G	S	+	1	0	BSN	49673778	1.000000	0.71417	0.998000	0.56505	0.938000	0.57974	3.926000	0.56491	1.904000	0.55121	0.459000	0.35465	AGC		0.627	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		7	83	0	0	0	0	7	83				
RBM6	10180	broad.mit.edu	37	3	50006080	50006080	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:50006080G>A	ENST00000266022.4	+	3	1481	c.1222G>A	c.(1222-1224)Gat>Aat	p.D408N	RBM6_ENST00000539992.1_Intron|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000443081.1_Missense_Mutation_p.D276N|RBM6_ENST00000441115.1_Intron	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	408					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		GGAGTACCGTGATGTGGATCA	0.522																																						uc003cyc.2		NA																	0				ovary(2)	2						c.(1222-1224)GAT>AAT		RNA binding motif protein 6							78.0	82.0	81.0					3																	50006080		2203	4300	6503	SO:0001583	missense	10180				RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr3:50006080G>A	AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.1222G>A	3.37:g.50006080G>A	ENSP00000266022:p.Asp408Asn					RBM6_uc011bdh.1_RNA|RBM6_uc010hlc.1_Intron|RBM6_uc003cyd.2_Intron|RBM6_uc003cye.2_Intron|RBM6_uc011bdi.1_Intron|RBM6_uc010hld.1_Intron|RBM6_uc010hle.1_Intron|RBM6_uc010hlf.1_Intron	p.D408N	NM_005777	NP_005768	P78332	RBM6_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)	3	1355	+			408					O60549|O75524|Q86SS3	Missense_Mutation	SNP	ENST00000266022.4	37	c.1222G>A	CCDS2809.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.592558	0.66219	.	.	ENSG00000004534	ENST00000266022;ENST00000443081	T;T	0.38887	1.11;1.14	5.84	5.84	0.93424	.	0.135982	0.46758	D	0.000262	T	0.53981	0.1830	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.45056	-0.9287	9	.	.	.	-16.8092	18.3169	0.90224	0.0:0.0:1.0:0.0	.	408	P78332	RBM6_HUMAN	N	408;276	ENSP00000266022:D408N;ENSP00000396466:D276N	.	D	+	1	0	RBM6	49981084	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.280000	0.72626	2.774000	0.95407	0.484000	0.47621	GAT		0.522	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777		10	73	0	0	0	0	10	73				
RBM6	10180	broad.mit.edu	37	3	50006127	50006127	+	Missense_Mutation	SNP	G	G	T	rs147351457		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:50006127G>T	ENST00000266022.4	+	3	1528	c.1269G>T	c.(1267-1269)caG>caT	p.Q423H	RBM6_ENST00000539992.1_Intron|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000443081.1_Missense_Mutation_p.Q291H|RBM6_ENST00000441115.1_Intron	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	423					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		GCTATGGCCAGAGCAAGTCTT	0.473																																						uc003cyc.2		NA																	0				ovary(2)	2						c.(1267-1269)CAG>CAT		RNA binding motif protein 6							65.0	69.0	68.0					3																	50006127		2203	4300	6503	SO:0001583	missense	10180				RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr3:50006127G>T	AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.1269G>T	3.37:g.50006127G>T	ENSP00000266022:p.Gln423His					RBM6_uc011bdh.1_RNA|RBM6_uc010hlc.1_Intron|RBM6_uc003cyd.2_Intron|RBM6_uc003cye.2_Intron|RBM6_uc011bdi.1_Intron|RBM6_uc010hld.1_Intron|RBM6_uc010hle.1_Intron|RBM6_uc010hlf.1_Intron	p.Q423H	NM_005777	NP_005768	P78332	RBM6_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)	3	1402	+			423					O60549|O75524|Q86SS3	Missense_Mutation	SNP	ENST00000266022.4	37	c.1269G>T	CCDS2809.1	.	.	.	.	.	.	.	.	.	.	G	5.829	0.337260	0.11013	.	.	ENSG00000004534	ENST00000266022;ENST00000443081	T;T	0.42131	0.98;0.98	5.64	2.57	0.30868	.	0.573448	0.17433	N	0.174395	T	0.19046	0.0457	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.05257	-1.0896	9	.	.	.	-10.7867	6.8291	0.23900	0.1681:0.0:0.6403:0.1916	.	423	P78332	RBM6_HUMAN	H	423;291	ENSP00000266022:Q423H;ENSP00000396466:Q291H	.	Q	+	3	2	RBM6	49981131	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.348000	0.20031	0.753000	0.32945	0.484000	0.47621	CAG		0.473	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777		8	61	1	0	5.49e-09	5.91e-09	8	61				
NISCH	11188	broad.mit.edu	37	3	52522252	52522252	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:52522252A>G	ENST00000479054.1	+	17	2816	c.2744A>G	c.(2743-2745)cAg>cGg	p.Q915R	NISCH_ENST00000345716.4_Missense_Mutation_p.Q915R			Q9Y2I1	NISCH_HUMAN	nischarin	915					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	CTCACGCCCCAGCACCTCAAC	0.652																																						uc011beg.1		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(2743-2745)CAG>CGG		nischarin							88.0	73.0	78.0					3																	52522252		2203	4300	6503	SO:0001583	missense	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52522252A>G	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.2744A>G	3.37:g.52522252A>G	ENSP00000418232:p.Gln915Arg					NISCH_uc003ded.3_Missense_Mutation_p.Q915R|NISCH_uc003dee.3_Missense_Mutation_p.Q404R|NISCH_uc003deg.1_RNA|NISCH_uc003deh.3_5'Flank	p.Q915R	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	17	2816	+			915					C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	ENST00000479054.1	37	c.2744A>G	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	A	11.83	1.755102	0.31046	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000414197	T;T	0.06933	3.24;3.24	5.21	4.06	0.47325	.	0.392752	0.28606	N	0.014750	T	0.04815	0.0130	N	0.14661	0.345	0.33493	D	0.58893	B	0.30824	0.296	B	0.19946	0.027	T	0.28650	-1.0037	10	0.36615	T	0.2	-14.3953	10.6398	0.45586	0.9244:0.0:0.0756:0.0	.	915	Q9Y2I1	NISCH_HUMAN	R	915;915;259	ENSP00000418232:Q915R;ENSP00000339958:Q915R	ENSP00000339958:Q915R	Q	+	2	0	NISCH	52497292	1.000000	0.71417	1.000000	0.80357	0.205000	0.24178	4.464000	0.60134	0.837000	0.34925	0.379000	0.24179	CAG		0.652	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		7	64	0	0	0	0	7	64				
LRTM1	57408	broad.mit.edu	37	3	54958711	54958711	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:54958711T>C	ENST00000273286.5	-	2	701	c.539A>G	c.(538-540)aAc>aGc	p.N180S	LRTM1_ENST00000493075.1_Missense_Mutation_p.N104S|CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000415676.2_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	180	LRRCT.					integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		TTTCCAGAGGTTGTCCTTGAG	0.463																																						uc003dhl.2		NA																	0					0						c.(538-540)AAC>AGC		leucine-rich repeats and transmembrane domains 1							100.0	105.0	103.0					3																	54958711		2203	4300	6503	SO:0001583	missense	57408					integral to membrane		g.chr3:54958711T>C	AF225421	CCDS2876.1	3p14.3	2006-01-02			ENSG00000144771	ENSG00000144771			25023	protein-coding gene	gene with protein product						12477932	Standard	NM_020678		Approved	HT017	uc003dhl.3	Q9HBL6	OTTHUMG00000158578	ENST00000273286.5:c.539A>G	3.37:g.54958711T>C	ENSP00000273286:p.Asn180Ser					CACNA2D3_uc003dhf.2_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	p.N180S	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)	2	673	-			180			Extracellular (Potential).|LRRCT.		Q8IUU2	Missense_Mutation	SNP	ENST00000273286.5	37	c.539A>G	CCDS2876.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.570204	0.86542	.	.	ENSG00000144771	ENST00000273286;ENST00000493075	T;D	0.97352	3.54;-4.35	5.96	5.96	0.96718	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98912	0.9631	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99628	1.0985	10	0.87932	D	0	.	16.437	0.83878	0.0:0.0:0.0:1.0	.	180	Q9HBL6	LRTM1_HUMAN	S	180;104	ENSP00000273286:N180S;ENSP00000419772:N104S	ENSP00000273286:N180S	N	-	2	0	LRTM1	54933751	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.500000	0.81588	2.278000	0.76064	0.533000	0.62120	AAC		0.463	LRTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351399.1	NM_020678		19	206	0	0	0	0	19	206				
WNT5A	7474	broad.mit.edu	37	3	55504433	55504433	+	Missense_Mutation	SNP	C	C	A	rs369954366		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:55504433C>A	ENST00000474267.1	-	6	1351	c.830G>T	c.(829-831)cGg>cTg	p.R277L	WNT5A_ENST00000493406.1_5'Flank|WNT5A_ENST00000497027.1_Missense_Mutation_p.R262L|WNT5A_ENST00000264634.4_Missense_Mutation_p.R277L			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	277					activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|ameboidal cell migration (GO:0001667)|anterior/posterior axis specification, embryo (GO:0008595)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular protein localization (GO:0034613)|cellular response to calcium ion (GO:0071277)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cervix development (GO:0060067)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|dopaminergic neuron differentiation (GO:0071542)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system development (GO:0048706)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity (GO:0001736)|face development (GO:0060324)|genitalia development (GO:0048806)|heart looping (GO:0001947)|hematopoietic stem cell proliferation (GO:0071425)|hindgut morphogenesis (GO:0007442)|hypophysis morphogenesis (GO:0048850)|keratinocyte differentiation (GO:0030216)|lateral sprouting involved in mammary gland duct morphogenesis (GO:0060599)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|male gonad development (GO:0008584)|mammary gland branching involved in thelarche (GO:0060744)|mesenchymal-epithelial cell signaling (GO:0060638)|midgut development (GO:0007494)|negative chemotaxis (GO:0050919)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of synapse assembly (GO:0051964)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|olfactory bulb interneuron development (GO:0021891)|optic cup formation involved in camera-type eye development (GO:0003408)|palate development (GO:0060021)|planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:0061350)|planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:0061349)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar cell polarity pathway involved in outflow tract morphogenesis (GO:0061347)|planar cell polarity pathway involved in pericardium morphogenesis (GO:0061354)|planar cell polarity pathway involved in ventricular septum morphogenesis (GO:0061348)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of meiosis (GO:0045836)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ossification (GO:0045778)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|protein phosphorylation (GO:0006468)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|response to organic substance (GO:0010033)|somitogenesis (GO:0001756)|type B pancreatic cell development (GO:0003323)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vagina development (GO:0060068)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|wound healing (GO:0042060)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor tyrosine kinase-like orphan receptor binding (GO:0005115)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R370L(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		GCTGTTGAGCCGCATGGCCGC	0.612																																						uc003dhn.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(829-831)CGG>CTG		wingless-type MMTV integration site family,							31.0	38.0	36.0					3																	55504433		2191	4298	6489	SO:0001583	missense	7474				activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:55504433C>A	L20861	CCDS46850.1, CCDS58835.1	3p21-p14	2013-02-28			ENSG00000114251	ENSG00000114251		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12784	protein-coding gene	gene with protein product	"""WNT-5A protein"""	164975				8288227	Standard	NM_001256105		Approved	hWNT5A	uc010hmw.4	P41221	OTTHUMG00000158361	ENST00000474267.1:c.830G>T	3.37:g.55504433C>A	ENSP00000417310:p.Arg277Leu					WNT5A_uc003dhm.2_Missense_Mutation_p.R262L|WNT5A_uc010hmw.2_Missense_Mutation_p.R262L|WNT5A_uc010hmx.2_Missense_Mutation_p.R188L	p.R277L	NM_003392	NP_003383	P41221	WNT5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)	5	1148	-			277					A8K4A4|Q6P278	Missense_Mutation	SNP	ENST00000474267.1	37	c.830G>T	CCDS46850.1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.915629	0.73098	.	.	ENSG00000114251	ENST00000474267;ENST00000264634;ENST00000536765;ENST00000497027	T;T;T	0.76060	-0.99;-0.99;-0.99	5.82	4.84	0.62591	.	0.138509	0.49916	D	0.000133	T	0.74344	0.3704	L	0.41906	1.305	0.42019	D	0.990977	P	0.42908	0.793	P	0.54924	0.764	T	0.75221	-0.3394	10	0.66056	D	0.02	.	7.0171	0.24895	0.0:0.8097:0.0:0.1903	.	277	P41221	WNT5A_HUMAN	L	277;277;188;262	ENSP00000417310:R277L;ENSP00000264634:R277L;ENSP00000420104:R262L	ENSP00000264634:R277L	R	-	2	0	WNT5A	55479473	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.637000	0.46553	2.767000	0.95098	0.655000	0.94253	CGG		0.612	WNT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350793.3	NM_003392		4	14	1	0	0.00909568	0.00921004	4	14				
DENND6A	201627	broad.mit.edu	37	3	57613942	57613942	+	Nonstop_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:57613942C>G	ENST00000311128.5	-	20	1896	c.1826G>C	c.(1825-1827)tGa>tCa	p.*609S	RP11-755B10.2_ENST00000470427.1_RNA	NM_152678.2	NP_689891.1	Q8IWF6	DEN6A_HUMAN	DENN/MADD domain containing 6A	0					positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)|recycling endosome (GO:0055037)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										TGGCAAATATCATGTCATGCC	0.438																																						uc003dja.2		NA																	0				pancreas(1)	1						c.(1825-1827)TGA>TCA		hypothetical protein LOC201627							185.0	163.0	171.0					3																	57613942		2203	4300	6503	SO:0001578	stop_lost	201627							g.chr3:57613942C>G	AK074156	CCDS33773.1	3p14.3	2013-10-11	2012-10-03	2012-10-03	ENSG00000174839	ENSG00000174839		"""DENN/MADD domain containing"""	26635	protein-coding gene	gene with protein product			"""family with sequence similarity 116, member A"""	FAM116A		21330364	Standard	NM_152678		Approved	FLJ34969, AFI1A	uc003dja.3	Q8IWF6	OTTHUMG00000158639	ENST00000311128.5:c.1826G>C	3.37:g.57613942C>G							p.*609S	NM_152678	NP_689891	Q8IWF6	F116A_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607)	20	1897	-			609					Q7Z5T4|Q8N235|Q8TEG8	Nonstop_Mutation	SNP	ENST00000311128.5	37	c.1826G>C	CCDS33773.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.539276	0.45176	.	.	ENSG00000174839	ENST00000311128	.	.	.	5.66	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.349	0.60591	0.0:0.9258:0.0:0.0742	.	.	.	.	S	609	.	.	X	-	2	2	FAM116A	57588982	1.000000	0.71417	0.956000	0.39512	0.992000	0.81027	4.679000	0.61649	1.348000	0.45733	0.655000	0.94253	TGA		0.438	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351594.1	NM_152678		17	206	0	0	0	0	17	206				
SHQ1	55164	broad.mit.edu	37	3	72799729	72799729	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:72799729G>A	ENST00000325599.8	-	11	1579	c.1440C>T	c.(1438-1440)ctC>ctT	p.L480L	SHQ1_ENST00000468371.1_5'UTR|SHQ1_ENST00000463369.1_Silent_p.L452L	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	480	Ser-rich.				negative regulation of rRNA processing (GO:2000233)|positive regulation of apoptotic process (GO:0043065)|ribonucleoprotein complex assembly (GO:0022618)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		GACTATCTTTGAGTTCATCTT	0.468																																						uc003dpf.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(1438-1440)CTC>CTT		SHQ1 homolog							113.0	104.0	107.0					3																	72799729		2203	4300	6503	SO:0001819	synonymous_variant	55164				ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding	g.chr3:72799729G>A	BC025270	CCDS33788.1	3p13	2013-01-08	2013-01-08		ENSG00000144736	ENSG00000144736			25543	protein-coding gene	gene with protein product		613663	"""SHQ1 homolog (S. cerevisiae)"""			12477932	Standard	NM_018130		Approved	FLJ10539, Shq1p	uc003dpf.3	Q6PI26	OTTHUMG00000158814	ENST00000325599.8:c.1440C>T	3.37:g.72799729G>A						SHQ1_uc010hod.2_Silent_p.L391L	p.L480L	NM_018130	NP_060600	Q6PI26	SHQ1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)	11	1547	-		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)	480			Ser-rich.		B4DL05|Q6MZJ4|Q7Z748|Q9H7E5|Q9NVS8	Silent	SNP	ENST00000325599.8	37	c.1440C>T	CCDS33788.1																																																																																				0.468	SHQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352310.1	NM_018130		11	131	0	0	0	0	11	131				
GXYLT2	727936	broad.mit.edu	37	3	73004381	73004381	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:73004381G>C	ENST00000389617.4	+	4	894	c.733G>C	c.(733-735)Gaa>Caa	p.E245Q		NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN	glucoside xylosyltransferase 2	245					O-glycan processing (GO:0016266)	integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						CCCTGAGCACGAAATCCCCAA	0.493																																						uc003dpg.2		NA																	0					0						c.(733-735)GAA>CAA		glycosyltransferase 8 domain containing 4							59.0	60.0	59.0					3																	73004381		1911	4125	6036	SO:0001583	missense	727936				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity	g.chr3:73004381G>C	AC098481	CCDS46870.1	3p13	2013-02-22	2009-11-17	2009-11-17	ENSG00000172986	ENSG00000172986		"""Glycosyltransferase family 8 domain containing"""	33383	protein-coding gene	gene with protein product		613322	"""glycosyltransferase 8 domain containing 4"""	GLT8D4		19940119	Standard	NM_001080393		Approved		uc003dpg.3	A0PJZ3	OTTHUMG00000158815	ENST00000389617.4:c.733G>C	3.37:g.73004381G>C	ENSP00000374268:p.Glu245Gln						p.E245Q	NM_001080393	NP_001073862	A0PJZ3	GXLT2_HUMAN			4	733	+			245			Lumenal (Potential).			Missense_Mutation	SNP	ENST00000389617.4	37	c.733G>C	CCDS46870.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144460	0.77888	.	.	ENSG00000172986	ENST00000389617;ENST00000491839	T;T	0.22539	1.95;1.95	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.53222	0.1783	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.52026	-0.8630	10	0.32370	T	0.25	.	19.212	0.93760	0.0:0.0:1.0:0.0	.	245	A0PJZ3	GXLT2_HUMAN	Q	245;6	ENSP00000374268:E245Q;ENSP00000420426:E6Q	ENSP00000374268:E245Q	E	+	1	0	GXYLT2	73087071	1.000000	0.71417	0.997000	0.53966	0.489000	0.33432	9.430000	0.97488	2.778000	0.95560	0.655000	0.94253	GAA		0.493	GXYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352318.1	NM_001080393		6	51	0	0	0	0	6	51				
STXBP5L	9515	broad.mit.edu	37	3	120977960	120977960	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:120977960G>C	ENST00000273666.6	+	18	2174	c.1903G>C	c.(1903-1905)Gat>Cat	p.D635H	STXBP5L_ENST00000492541.1_Missense_Mutation_p.D635H|STXBP5L_ENST00000472879.1_Missense_Mutation_p.D635H|STXBP5L_ENST00000497029.1_Missense_Mutation_p.D635H|STXBP5L_ENST00000471454.1_Missense_Mutation_p.D635H	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	635					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GGTGTGGGTAGATGGTGAACC	0.348																																						uc003eec.3		NA																	0				ovary(7)|skin(2)	9						c.(1903-1905)GAT>CAT		syntaxin binding protein 5-like							111.0	112.0	112.0					3																	120977960		1891	4113	6004	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120977960G>C	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.1903G>C	3.37:g.120977960G>C	ENSP00000273666:p.Asp635His					STXBP5L_uc011bji.1_Missense_Mutation_p.D635H	p.D635H	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	18	2043	+			635					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.1903G>C	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.309228	0.60414	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.64438	1.8;-0.1;-0.1;1.11;-0.1;1.82	5.22	5.22	0.72569	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.75413	0.3846	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.73167	-0.4068	10	0.38643	T	0.18	-21.2276	19.1733	0.93590	0.0:0.0:1.0:0.0	.	635;635	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	H	635	ENSP00000273666:D635H;ENSP00000420019:D635H;ENSP00000419627:D635H;ENSP00000420287:D635H;ENSP00000420666:D635H;ENSP00000420167:D635H	ENSP00000273666:D635H	D	+	1	0	STXBP5L	122460650	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.337000	0.79256	2.591000	0.87537	0.650000	0.86243	GAT		0.348	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			8	113	0	0	0	0	8	113				
KALRN	8997	broad.mit.edu	37	3	124397074	124397074	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:124397074C>T	ENST00000462213.1	+	2	306	c.82C>T	c.(82-84)Cgg>Tgg	p.R28W	KALRN_ENST00000428018.2_Missense_Mutation_p.R682W|KALRN_ENST00000291478.5_Missense_Mutation_p.R714W|KALRN_ENST00000360013.3_Missense_Mutation_p.R2411W			O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2410					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CATGAGAAAGCGGGCGGAAGT	0.483																																						uc003ehg.2		NA																	0				large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(7231-7233)CGG>TGG		kalirin, RhoGEF kinase isoform 1							146.0	142.0	143.0					3																	124397074		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124397074C>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000462213.1:c.82C>T	3.37:g.124397074C>T	ENSP00000418790:p.Arg28Trp					KALRN_uc003ehk.2_Missense_Mutation_p.R714W	p.R2411W	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			50	7358	+			2410					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000462213.1	37	c.7231C>T		.	.	.	.	.	.	.	.	.	.	C	17.79	3.476781	0.63849	.	.	ENSG00000160145	ENST00000360013;ENST00000291478;ENST00000428018;ENST00000462213	T;T;T;T	0.63744	-0.06;0.42;0.42;0.42	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.71426	0.3338	L	0.34521	1.04	0.38612	D	0.950924	D;D	0.89917	1.0;0.999	D;P	0.66979	0.948;0.877	T	0.74115	-0.3769	10	0.62326	D	0.03	.	19.5916	0.95514	0.0:1.0:0.0:0.0	.	714;2410	C9JQ37;O60229	.;KALRN_HUMAN	W	2411;714;682;28	ENSP00000353109:R2411W;ENSP00000291478:R714W;ENSP00000402419:R682W;ENSP00000418790:R28W	ENSP00000291478:R714W	R	+	1	2	KALRN	125879764	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.079000	0.76829	2.861000	0.98227	0.655000	0.94253	CGG		0.483	KALRN-016	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000356377.1	NM_003947		14	148	0	0	0	0	14	148				
SLC12A8	84561	broad.mit.edu	37	3	124839464	124839464	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:124839464G>A	ENST00000393469.4	-	6	852	c.803C>T	c.(802-804)tCc>tTc	p.S268F	SLC12A8_ENST00000469902.1_Missense_Mutation_p.S268F|RNU6-230P_ENST00000362457.1_RNA|SLC12A8_ENST00000423114.2_Missense_Mutation_p.S297F|SLC12A8_ENST00000430155.2_Missense_Mutation_p.S69F|SLC12A8_ENST00000465475.1_5'UTR|SLC12A8_ENST00000314584.7_Missense_Mutation_p.S21F	NM_001195483.1	NP_001182412	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	268					potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(12)	16						AGCTGCCAGGGAGCCCGGGGG	0.597																																						uc003ehv.3		NA																	0					0						c.(802-804)TCC>TTC		solute carrier family 12, member 8							24.0	27.0	26.0					3																	124839464		1953	4134	6087	SO:0001583	missense	84561				potassium ion transport	integral to membrane	symporter activity	g.chr3:124839464G>A		CCDS43143.1	3q21.2	2013-07-18	2013-07-18		ENSG00000221955	ENSG00000221955		"""Solute carriers"""	15595	protein-coding gene	gene with protein product	"""solute carrier family 12 (sodium/potassium/chloride transporters), member 8"", ""cation-chloride cotransporter 9"""	611316				11863360	Standard	NM_024628		Approved	CCC9	uc003ehv.4	A0AV02	OTTHUMG00000159483	ENST00000393469.4:c.803C>T	3.37:g.124839464G>A	ENSP00000377112:p.Ser268Phe					SLC12A8_uc003ehw.3_Missense_Mutation_p.S297F|SLC12A8_uc010hrz.1_Missense_Mutation_p.S133F|SLC12A8_uc003eht.3_Missense_Mutation_p.S69F|SLC12A8_uc003ehu.3_Missense_Mutation_p.S21F|SLC12A8_uc010hry.2_Missense_Mutation_p.S21F	p.S268F	NM_024628	NP_078904	A0AV02	S12A8_HUMAN			7	914	-			268			Helical; (Potential).		C9JJJ2|Q68D04|Q6I9Z2|Q6P4C0|Q7Z3A6|Q86WK0|Q8NFX9|Q8WUI3|Q96RF9|Q9H5P9	Missense_Mutation	SNP	ENST00000393469.4	37	c.803C>T	CCDS43143.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.688576	0.88639	.	.	ENSG00000221955	ENST00000430155;ENST00000393469;ENST00000423114;ENST00000469902;ENST00000314584;ENST00000479826	D;D;D;D;D;D	0.98666	-5.06;-5.06;-5.06;-5.06;-5.06;-5.06	5.62	5.62	0.85841	Amino acid permease domain (1);	.	.	.	.	D	0.98692	0.9561	L	0.50333	1.59	0.51482	D	0.99992	D;D;D;D;D	0.71674	0.997;0.998;0.991;0.978;0.996	D;D;P;P;D	0.70935	0.958;0.971;0.894;0.882;0.946	D	0.99899	1.1156	9	0.87932	D	0	.	17.4498	0.87589	0.0:0.0:1.0:0.0	.	160;21;297;268;69	B5MDT1;A0AV02-4;A0AV02-2;A0AV02;A0AV02-3	.;.;.;S12A8_HUMAN;.	F	69;268;297;268;21;150	ENSP00000415713:S69F;ENSP00000377112:S268F;ENSP00000404243:S297F;ENSP00000418783:S268F;ENSP00000323632:S21F;ENSP00000420197:S150F	ENSP00000323632:S21F	S	-	2	0	SLC12A8	126322154	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.236000	0.89805	2.634000	0.89283	0.655000	0.94253	TCC		0.597	SLC12A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355711.4	NM_024628		4	35	0	0	0	0	4	35				
EEFSEC	60678	broad.mit.edu	37	3	128060436	128060436	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:128060436G>T	ENST00000254730.6	+	5	1201	c.1147G>T	c.(1147-1149)Gat>Tat	p.D383Y	EEFSEC_ENST00000483569.1_3'UTR|EEFSEC_ENST00000483457.1_Missense_Mutation_p.D328Y	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	383					selenocysteine incorporation (GO:0001514)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)|translation elongation factor activity (GO:0003746)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						CCTGTCCAAGGATTTGACACC	0.532																																						uc003eki.2		NA																	0				ovary(1)	1						c.(1147-1149)GAT>TAT		eukaryotic elongation factor,							41.0	44.0	43.0					3																	128060436		2203	4300	6503	SO:0001583	missense	60678					cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity	g.chr3:128060436G>T		CCDS33849.1	3q21.3	2007-05-25			ENSG00000132394	ENSG00000132394			24614	protein-coding gene	gene with protein product	"""elongation factor for selenoprotein translation"""	607695				10970870, 15229221	Standard	XM_005247696		Approved	SELB, EFSEC	uc003eki.3	P57772	OTTHUMG00000159659	ENST00000254730.6:c.1147G>T	3.37:g.128060436G>T	ENSP00000254730:p.Asp383Tyr					EEFSEC_uc003ekj.2_Missense_Mutation_p.D328Y	p.D383Y	NM_021937	NP_068756	P57772	SELB_HUMAN			5	1185	+			383					Q96HZ6	Missense_Mutation	SNP	ENST00000254730.6	37	c.1147G>T	CCDS33849.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.451939	0.43531	.	.	ENSG00000132394	ENST00000254730;ENST00000483457	T;T	0.56776	0.87;0.44	5.44	5.44	0.79542	.	0.216664	0.39341	N	0.001385	T	0.57388	0.2050	L	0.58101	1.795	0.47949	D	0.999556	P;B	0.48162	0.906;0.306	P;B	0.44732	0.459;0.195	T	0.63319	-0.6664	10	0.72032	D	0.01	-13.7434	19.2452	0.93899	0.0:0.0:1.0:0.0	.	328;383	C9J8T0;P57772	.;SELB_HUMAN	Y	383;328	ENSP00000254730:D383Y;ENSP00000417660:D328Y	ENSP00000254730:D383Y	D	+	1	0	EEFSEC	129543126	1.000000	0.71417	0.110000	0.21437	0.124000	0.20399	5.597000	0.67577	2.536000	0.85505	0.591000	0.81541	GAT		0.532	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356738.2	NM_021937		15	83	1	0	7.93e-07	8.38e-07	15	83				
GATA2	2624	broad.mit.edu	37	3	128204941	128204941	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:128204941C>T	ENST00000341105.2	-	3	831	c.500G>A	c.(499-501)gGc>gAc	p.G167D	GATA2_ENST00000430265.2_Missense_Mutation_p.G167D|GATA2_ENST00000487848.1_Missense_Mutation_p.G167D	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	167					blood coagulation (GO:0007596)|cell differentiation in hindbrain (GO:0021533)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|definitive hemopoiesis (GO:0060216)|embryonic placenta development (GO:0001892)|eosinophil fate commitment (GO:0035854)|GABAergic neuron differentiation (GO:0097154)|homeostasis of number of cells within a tissue (GO:0048873)|inner ear morphogenesis (GO:0042472)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of phagocytosis (GO:0050766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of forebrain neuron differentiation (GO:2000977)|regulation of histone acetylation (GO:0035065)|semicircular canal development (GO:0060872)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|ventral spinal cord interneuron differentiation (GO:0021514)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|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 transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		AAGGTGGGAGCCAGAGTGGGC	0.682			Mis		AML(CML blast transformation)																																	uc003ekm.3		NA		Dom	yes		3	3q21.3	2624	Mis	GATA binding protein 2			L			AML(CML blast transformation)		0				haematopoietic_and_lymphoid_tissue(13)|lung(1)|skin(1)	15						c.(499-501)GGC>GAC		GATA binding protein 2 isoform 1							42.0	41.0	41.0					3																	128204941		2203	4300	6503	SO:0001583	missense	2624				blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr3:128204941C>T	AF169253	CCDS3049.1, CCDS46903.1	3q21	2014-09-17	2001-11-28		ENSG00000179348	ENSG00000179348		"""GATA zinc finger domain containing"""	4171	protein-coding gene	gene with protein product		137295	"""GATA-binding protein 2"""			1714909	Standard	NM_032638		Approved	NFE1B	uc003eko.2	P23769	OTTHUMG00000159689	ENST00000341105.2:c.500G>A	3.37:g.128204941C>T	ENSP00000345681:p.Gly167Asp					GATA2_uc003ekn.3_Missense_Mutation_p.G167D|GATA2_uc003eko.2_Missense_Mutation_p.G167D	p.G167D	NM_001145661	NP_001139133	P23769	GATA2_HUMAN		GBM - Glioblastoma multiforme(114;0.173)	4	935	-			167					D3DNB3|Q53YE0|Q96BH0|Q96BH8|Q9BUJ6	Missense_Mutation	SNP	ENST00000341105.2	37	c.500G>A	CCDS3049.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.809536	0.50421	.	.	ENSG00000179348	ENST00000341105;ENST00000430265;ENST00000487848	D;D;D	0.97089	-4.24;-4.23;-4.24	4.62	2.66	0.31614	.	0.506210	0.21892	N	0.067564	D	0.93703	0.7988	L	0.46157	1.445	0.38007	D	0.934405	B;B	0.29646	0.253;0.042	B;B	0.26614	0.059;0.071	D	0.91766	0.5424	10	0.42905	T	0.14	-7.6118	9.3024	0.37853	0.0:0.7726:0.1447:0.0827	.	167;167	P23769-2;P23769	.;GATA2_HUMAN	D	167	ENSP00000345681:G167D;ENSP00000400259:G167D;ENSP00000417074:G167D	ENSP00000345681:G167D	G	-	2	0	GATA2	129687631	0.998000	0.40836	0.766000	0.31476	0.992000	0.81027	2.976000	0.49289	0.911000	0.36747	0.484000	0.47621	GGC		0.682	GATA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356925.1	NM_032638		5	24	0	0	0	0	5	24				
TRIM42	287015	broad.mit.edu	37	3	140401600	140401600	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:140401600G>A	ENST00000286349.3	+	2	829	c.638G>A	c.(637-639)cGt>cAt	p.R213H		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	213						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.R213H(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CTGCACGGGCGTCTCACCAAG	0.612																																						uc003eto.1		NA																	1	Substitution - Missense(1)	p.R213H(1)	central_nervous_system(1)	lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	7						c.(637-639)CGT>CAT		tripartite motif-containing 42							74.0	73.0	73.0					3																	140401600		2203	4300	6503	SO:0001583	missense	287015					intracellular	zinc ion binding	g.chr3:140401600G>A	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.638G>A	3.37:g.140401600G>A	ENSP00000286349:p.Arg213His						p.R213H	NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN			2	829	+			213					A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	c.638G>A	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215216	0.79352	.	.	ENSG00000155890	ENST00000286349	T	0.38722	1.12	5.2	4.32	0.51571	Zinc finger, RING/FYVE/PHD-type (1);	0.117429	0.35349	N	0.003274	T	0.46347	0.1388	L	0.52905	1.665	0.30123	N	0.805474	D	0.71674	0.998	P	0.54140	0.743	T	0.45366	-0.9266	10	0.35671	T	0.21	-16.8257	8.6972	0.34303	0.1016:0.0:0.8984:0.0	.	213	Q8IWZ5	TRI42_HUMAN	H	213	ENSP00000286349:R213H	ENSP00000286349:R213H	R	+	2	0	TRIM42	141884290	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	2.158000	0.42329	2.435000	0.82474	0.561000	0.74099	CGT		0.612	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		9	169	0	0	0	0	9	169				
ZIC1	7545	broad.mit.edu	37	3	147128155	147128155	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:147128155G>A	ENST00000282928.4	+	1	985	c.256G>A	c.(256-258)Gtc>Atc	p.V86I		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	86					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CCCGGGCCACGTCGGCTCCTA	0.697																																						uc003ewe.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(256-258)GTC>ATC		zinc finger protein of the cerebellum 1							12.0	16.0	15.0					3																	147128155		2124	4267	6391	SO:0001583	missense	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128155G>A	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.256G>A	3.37:g.147128155G>A	ENSP00000282928:p.Val86Ile						p.V86I	NM_003412	NP_003403	Q15915	ZIC1_HUMAN			1	975	+			86					Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.256G>A	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441219	0.63067	.	.	ENSG00000152977	ENST00000282928	D	0.85013	-1.93	4.04	4.04	0.47022	.	0.000000	0.85682	D	0.000000	D	0.91185	0.7223	M	0.72118	2.19	0.53688	D	0.999979	D	0.58620	0.983	D	0.68943	0.961	D	0.92548	0.6047	10	0.72032	D	0.01	.	16.1771	0.81858	0.0:0.0:1.0:0.0	.	86	Q15915	ZIC1_HUMAN	I	86	ENSP00000282928:V86I	ENSP00000282928:V86I	V	+	1	0	ZIC1	148610845	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.399000	0.73248	1.806000	0.52798	0.442000	0.29010	GTC		0.697	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		4	42	0	0	0	0	4	42				
NMD3	51068	broad.mit.edu	37	3	160968692	160968692	+	Silent	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:160968692G>C	ENST00000460469.1	+	15	1961	c.1506G>C	c.(1504-1506)ctG>ctC	p.L502L	NMD3_ENST00000351193.2_Silent_p.L502L|NMD3_ENST00000472947.1_Intron			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	502	Necessary for the nuclear export of the 60S ribosomal subunit.				protein transport (GO:0015031)|ribosomal large subunit export from nucleus (GO:0000055)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|ribosomal large subunit binding (GO:0043023)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			CATCAATGCTGACATAATGAG	0.433																																						uc003feb.1		NA																	0				ovary(1)	1						c.(1504-1506)CTG>CTC		NMD3 homolog							169.0	145.0	153.0					3																	160968692		2203	4300	6503	SO:0001819	synonymous_variant	51068				protein transport	cytoplasm|nucleolus|nucleoplasm		g.chr3:160968692G>C	BC013317	CCDS3194.1	3q26.1	2013-08-06	2013-08-06		ENSG00000169251	ENSG00000169251			24250	protein-coding gene	gene with protein product		611021	"""NMD3 homolog (S. cerevisiae)"""			10810093, 23782956, 12773398	Standard	NM_015938		Approved	CGI-07	uc003feb.1	Q96D46	OTTHUMG00000159063	ENST00000460469.1:c.1506G>C	3.37:g.160968692G>C						NMD3_uc003fec.2_Intron|NMD3_uc003fed.1_Silent_p.L502L	p.L502L	NM_015938	NP_057022	Q96D46	NMD3_HUMAN	Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)		16	1625	+			502			Necessary for the nuclear export of the 60S ribosomal subunit.		D3DNM7|Q9Y2Z6	Silent	SNP	ENST00000460469.1	37	c.1506G>C	CCDS3194.1																																																																																				0.433	NMD3-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353114.1	NM_015938		8	170	0	0	0	0	8	170				
ECT2	1894	broad.mit.edu	37	3	172534484	172534484	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:172534484A>G	ENST00000392692.3	+	24	2688	c.2512A>G	c.(2512-2514)Aca>Gca	p.T838A	ECT2_ENST00000417960.1_Missense_Mutation_p.T806A|ECT2_ENST00000232458.5_Missense_Mutation_p.T807A|ECT2_ENST00000441497.2_Missense_Mutation_p.T807A|ECT2_ENST00000540509.1_Missense_Mutation_p.T838A|ECT2_ENST00000427830.1_Missense_Mutation_p.T807A	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	838					activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			ACTCTAGGTTACAAGAGCATT	0.368																																						uc003fii.2		NA																	0				breast(2)|ovary(1)|skin(1)	4						c.(2419-2421)ACA>GCA		epithelial cell transforming sequence 2 oncogene							51.0	53.0	52.0					3																	172534484		2203	4300	6503	SO:0001583	missense	1894				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr3:172534484A>G	AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"""Rho guanine nucleotide exchange factors"""	3155	protein-coding gene	gene with protein product		600586	"""epithelial cell transforming sequence 2 oncogene"""			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.2512A>G	3.37:g.172534484A>G	ENSP00000376457:p.Thr838Ala					ECT2_uc003fih.2_Missense_Mutation_p.T806A|ECT2_uc003fij.1_Missense_Mutation_p.T807A|ECT2_uc003fik.1_Missense_Mutation_p.T807A|ECT2_uc003fil.1_Missense_Mutation_p.T838A|ECT2_uc003fim.1_Missense_Mutation_p.T106A	p.T807A	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)		23	2557	+	Ovarian(172;0.00197)|Breast(254;0.158)		807					Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	ENST00000392692.3	37	c.2419A>G	CCDS58860.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.71|16.71	3.198001|3.198001	0.58126|0.58126	.|.	.|.	ENSG00000114346|ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000441497;ENST00000540509|ENST00000437296	T;T;T;T;T;T|.	0.65178|.	-0.1;-0.14;-0.12;-0.1;-0.1;-0.14|.	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	0.042101|.	0.85682|.	D|.	0.000000|.	T|T	0.71134|0.71134	0.3304|0.3304	M|M	0.63843|0.63843	1.955|1.955	0.58432|0.58432	D|D	0.999998|0.999998	P;B;P;P;P|.	0.45474|.	0.552;0.397;0.859;0.859;0.532|.	B;B;P;B;B|.	0.46299|.	0.146;0.146;0.511;0.406;0.281|.	T|T	0.70360|0.70360	-0.4893|-0.4893	10|5	0.28530|.	T|.	0.3|.	-18.022|-18.022	14.7259|14.7259	0.69343|0.69343	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	838;283;838;807;806|.	Q9H8V3;Q96SJ9;Q9H8V3-3;G5E9L8;Q9H8V3-2|.	ECT2_HUMAN;.;.;.;.|.	A|C	807;838;807;806;807;838|177	ENSP00000232458:T807A;ENSP00000376457:T838A;ENSP00000401910:T807A;ENSP00000415876:T806A;ENSP00000412259:T807A;ENSP00000443160:T838A|.	ENSP00000232458:T807A|.	T|Y	+|+	1|2	0|0	ECT2|ECT2	174017178|174017178	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.861000|0.861000	0.49209|0.49209	7.125000|7.125000	0.77193|0.77193	2.125000|2.125000	0.65367|0.65367	0.459000|0.459000	0.35465|0.35465	ACA|TAC		0.368	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	NM_018098		11	66	0	0	0	0	11	66				
SPATA16	83893	broad.mit.edu	37	3	172642075	172642075	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:172642075C>G	ENST00000351008.3	-	8	1444	c.1261G>C	c.(1261-1263)Gat>Cat	p.D421H		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	421					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CTCACTGTATCTTCTCTGGTC	0.328																																						uc003fin.3		NA																	0				ovary(2)|skin(1)	3						c.(1261-1263)GAT>CAT		spermatogenesis associated 16							119.0	115.0	117.0					3																	172642075		2203	4300	6503	SO:0001583	missense	83893				cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	g.chr3:172642075C>G	AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.1261G>C	3.37:g.172642075C>G	ENSP00000341765:p.Asp421His						p.D421H	NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)		8	1419	-	Ovarian(172;0.00319)|Breast(254;0.197)		421					Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Missense_Mutation	SNP	ENST00000351008.3	37	c.1261G>C	CCDS3221.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.329508	0.60743	.	.	ENSG00000144962	ENST00000351008	T	0.19938	2.11	5.81	5.81	0.92471	.	0.076260	0.56097	D	0.000034	T	0.35307	0.0927	L	0.27053	0.805	0.40269	D	0.978269	D	0.89917	1.0	D	0.70016	0.967	T	0.10543	-1.0625	10	0.87932	D	0	-14.253	17.862	0.88784	0.0:1.0:0.0:0.0	.	421	Q9BXB7	SPT16_HUMAN	H	421	ENSP00000341765:D421H	ENSP00000341765:D421H	D	-	1	0	SPATA16	174124769	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	5.214000	0.65236	2.752000	0.94435	0.557000	0.71058	GAT		0.328	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	NM_031955		9	199	0	0	0	0	9	199				
MFN1	55669	broad.mit.edu	37	3	179096140	179096140	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:179096140G>A	ENST00000471841.1	+	13	1467	c.1341G>A	c.(1339-1341)aaG>aaA	p.K447K	MFN1_ENST00000263969.5_Silent_p.K447K|MFN1_ENST00000280653.7_Intron	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	447					mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			AATTAAATAAGCACATAGAGG	0.318																																						uc003fjs.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(1339-1341)AAG>AAA		mitofusin 1							98.0	100.0	99.0					3																	179096140		2203	4300	6503	SO:0001819	synonymous_variant	55669				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	g.chr3:179096140G>A	AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.1341G>A	3.37:g.179096140G>A						MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Silent_p.K475K|MFN1_uc010hxc.2_Intron	p.K447K	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		13	1467	+	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		447			Cytoplasmic (Potential).		B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Silent	SNP	ENST00000471841.1	37	c.1341G>A	CCDS3228.1																																																																																				0.318	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927		12	79	0	0	0	0	12	79				
MASP1	5648	broad.mit.edu	37	3	186943271	186943271	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:186943271C>T	ENST00000337774.5	-	13	1971	c.1582G>A	c.(1582-1584)Gaa>Aaa	p.E528K		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	528	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)	p.E528K(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TGTTCATTTTCATCTGACCGG	0.542																																						uc003frh.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|liver(1)	4						c.(1582-1584)GAA>AAA		mannan-binding lectin serine protease 1 isoform							210.0	197.0	202.0					3																	186943271		2203	4300	6503	SO:0001583	missense	5648				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	g.chr3:186943271C>T	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1582G>A	3.37:g.186943271C>T	ENSP00000336792:p.Glu528Lys						p.E528K	NM_001879	NP_001870	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	13	1914	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		528			Peptidase S1.		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	ENST00000337774.5	37	c.1582G>A	CCDS33907.1	.	.	.	.	.	.	.	.	.	.	C	7.585	0.669625	0.14776	.	.	ENSG00000127241	ENST00000337774	D	0.88741	-2.42	6.04	4.28	0.50868	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.80665	0.4666	L	0.38953	1.18	0.80722	D	1	B	0.14438	0.01	B	0.11329	0.006	T	0.69602	-0.5101	9	0.06236	T	0.91	.	10.813	0.46557	0.0:0.8487:0.0:0.1513	.	528	P48740	MASP1_HUMAN	K	528	ENSP00000336792:E528K	ENSP00000336792:E528K	E	-	1	0	MASP1	188425965	1.000000	0.71417	0.803000	0.32268	0.855000	0.48748	2.205000	0.42770	0.907000	0.36646	-0.251000	0.11542	GAA		0.542	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		24	265	0	0	0	0	24	265				
LRCH3	84859	broad.mit.edu	37	3	197579467	197579467	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:197579467G>A	ENST00000425562.2	+	13	1566	c.1566G>A	c.(1564-1566)ccG>ccA	p.P522P	LRCH3_ENST00000334859.4_Silent_p.P522P|LRCH3_ENST00000441090.2_Silent_p.P368P|LRCH3_ENST00000414675.2_Silent_p.P494P|LRCH3_ENST00000536618.1_Silent_p.P117P|LRCH3_ENST00000438796.2_Silent_p.P522P			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	522			P -> L (in dbSNP:rs36078463).			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)		AACAGCACCCGCTCCTAGATG	0.388																																						uc011bul.1		NA																	0				ovary(1)	1						c.(1564-1566)CCG>CCA		leucine-rich repeats and calponin homology (CH)							157.0	160.0	159.0					3																	197579467		2203	4300	6503	SO:0001819	synonymous_variant	84859					extracellular region		g.chr3:197579467G>A	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.1566G>A	3.37:g.197579467G>A						LRCH3_uc003fyj.1_Silent_p.P522P|LRCH3_uc011bum.1_Silent_p.P494P|LRCH3_uc011bun.1_Silent_p.P368P|LRCH3_uc003fyk.2_Silent_p.P117P	p.P522P	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)	13	1571	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		522					B4E0T7|Q96FP9|Q9NT52	Silent	SNP	ENST00000425562.2	37	c.1566G>A																																																																																					0.388	LRCH3-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000339965.1	NM_032773		10	190	0	0	0	0	10	190				
ZNF721	170960	broad.mit.edu	37	4	437477	437477	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:437477G>A	ENST00000338977.5	-	2	791	c.743C>T	c.(742-744)tCa>tTa	p.S248L	ZNF721_ENST00000511833.2_Missense_Mutation_p.S260L|ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA			Q8TF20	ZN721_HUMAN	zinc finger protein 721	248				SSS -> LIL (in Ref. 1; CAH10687). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						GCTTGAGGATGAGGAAATGAC	0.378																																						uc003gag.2		NA																	0				ovary(1)	1						c.(778-780)TCA>TTA		zinc finger protein 721							57.0	61.0	59.0					4																	437477		2107	4250	6357	SO:0001583	missense	170960					intracellular	nucleic acid binding|zinc ion binding	g.chr4:437477G>A	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.743C>T	4.37:g.437477G>A	ENSP00000340524:p.Ser248Leu					ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Missense_Mutation_p.S292L|ZNF721_uc010ibe.2_Missense_Mutation_p.S248L	p.S260L	NM_133474	NP_597731	D9N162	D9N162_HUMAN			3	1470	-			260					Q69YG7	Missense_Mutation	SNP	ENST00000338977.5	37	c.779C>T		.	.	.	.	.	.	.	.	.	.	G	0.020	-1.440490	0.01098	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.02032	4.49;4.49	1.29	-2.58	0.06228	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	L	0.52364	1.645	0.09310	N	1	D;P;P	0.59357	0.985;0.534;0.478	D;B;B	0.69824	0.966;0.403;0.281	T	0.22173	-1.0224	9	0.11182	T	0.66	.	0.3735	0.00383	0.1849:0.1977:0.256:0.3614	.	248;260;260	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	L	248;260	ENSP00000340524:S248L;ENSP00000428878:S260L	ENSP00000340524:S248L	S	-	2	0	ZNF721	427477	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.549000	0.06041	-1.395000	0.02074	-1.052000	0.02337	TCA		0.378	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474		9	87	0	0	0	0	9	87				
TACC3	10460	broad.mit.edu	37	4	1729444	1729444	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:1729444C>T	ENST00000313288.4	+	4	421	c.315C>T	c.(313-315)ctC>ctT	p.L105L		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	105					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			GCCAACAGCTCATCAAGGAAG	0.483																																					Ovarian(120;482 2294 11894 35824)	uc003gdo.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(313-315)CTC>CTT		transforming, acidic coiled-coil containing							217.0	239.0	232.0					4																	1729444		2195	4278	6473	SO:0001819	synonymous_variant	10460					centrosome		g.chr4:1729444C>T	AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.315C>T	4.37:g.1729444C>T						TACC3_uc010ibz.2_Silent_p.L105L|TACC3_uc003gdp.2_Intron	p.L105L	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)		4	423	+		Breast(71;0.212)|all_epithelial(65;0.241)	105					Q2NKK4|Q3KQS5|Q9UMQ1	Silent	SNP	ENST00000313288.4	37	c.315C>T	CCDS3352.1																																																																																				0.483	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2			62	517	0	0	0	0	62	517				
MRFAP1L1	114932	broad.mit.edu	37	4	6711296	6711296	+	Missense_Mutation	SNP	C	C	G	rs376876657		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:6711296C>G	ENST00000320848.6	-	1	311	c.61G>C	c.(61-63)Gag>Cag	p.E21Q		NM_203462.2	NP_982287.1	Q96HT8	MR1L1_HUMAN	Morf4 family associated protein 1-like 1	21																	AAATCCTCCTCGGGCTCCAGC	0.637																																						uc003gjn.2		NA																	0					0						c.(61-63)GAG>CAG		Morf4 family associated protein 1-like 1							44.0	45.0	45.0					4																	6711296		2203	4300	6503	SO:0001583	missense	114932							g.chr4:6711296C>G	AF258591	CCDS3392.1	4p16.1	2008-02-05			ENSG00000178988	ENSG00000178988			28796	protein-coding gene	gene with protein product						12477932	Standard	NM_203462		Approved	MGC9651	uc003gjo.3	Q96HT8	OTTHUMG00000125507	ENST00000320848.6:c.61G>C	4.37:g.6711296C>G	ENSP00000318154:p.Glu21Gln					MRFAP1L1_uc003gjo.2_Missense_Mutation_p.E21Q	p.E21Q	NM_203462	NP_982287	Q96HT8	MR1L1_HUMAN			1	301	-			21					B2R6R0|Q6NXT8|Q9P0J5	Missense_Mutation	SNP	ENST00000320848.6	37	c.61G>C	CCDS3392.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.302965	0.40795	.	.	ENSG00000178988	ENST00000320848	.	.	.	2.72	1.86	0.25419	.	.	.	.	.	T	0.41096	0.1144	N	0.24115	0.695	0.22880	N	0.998611	D	0.76494	0.999	D	0.85130	0.997	T	0.14200	-1.0481	8	0.56958	D	0.05	.	6.9526	0.24554	0.2723:0.7277:0.0:0.0	.	21	Q96HT8	MR1L1_HUMAN	Q	21	.	ENSP00000318154:E21Q	E	-	1	0	MRFAP1L1	6762197	0.976000	0.34144	0.989000	0.46669	0.052000	0.14988	0.893000	0.28336	0.691000	0.31592	0.655000	0.94253	GAG		0.637	MRFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246834.1	NM_152301		7	96	0	0	0	0	7	96				
DRD5	1816	broad.mit.edu	37	4	9784345	9784345	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:9784345T>C	ENST00000304374.2	+	1	1088	c.692T>C	c.(691-693)cTc>cCc	p.L231P		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	231					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	TCTTCCTCGCTCATCAGCTTC	0.582																																						uc003gmb.3		NA																	0				skin(1)	1						c.(691-693)CTC>CCC		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						73.0	66.0	68.0					4																	9784345		2203	4299	6502	SO:0001583	missense	1816				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9784345T>C	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.692T>C	4.37:g.9784345T>C	ENSP00000306129:p.Leu231Pro						p.L231P	NM_000798	NP_000789	P21918	DRD5_HUMAN			1	1088	+			231			Helical; Name=5; (Potential).		B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	c.692T>C	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	t	16.20	3.055534	0.55325	.	.	ENSG00000169676	ENST00000304374	T	0.74737	-0.87	4.6	4.6	0.57074	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	D	0.90310	0.6969	H	0.97340	3.985	0.80722	D	1	D	0.71674	0.998	D	0.72625	0.978	D	0.93146	0.6545	10	0.66056	D	0.02	.	13.3387	0.60533	0.0:0.0:0.0:1.0	.	231	P21918	DRD5_HUMAN	P	231	ENSP00000306129:L231P	ENSP00000306129:L231P	L	+	2	0	DRD5	9393443	1.000000	0.71417	0.987000	0.45799	0.476000	0.33039	7.481000	0.81124	1.935000	0.56089	0.254000	0.18369	CTC		0.582	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			10	93	0	0	0	0	10	93				
TBC1D1	23216	broad.mit.edu	37	4	38016216	38016216	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:38016216G>A	ENST00000261439.4	+	3	859	c.504G>A	c.(502-504)acG>acA	p.T168T	TBC1D1_ENST00000508802.1_Silent_p.T168T	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	168					membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TCGACGACACGTTTTCCAAGA	0.617																																						uc003gtb.2		NA																	0				ovary(1)	1						c.(502-504)ACG>ACA		TBC1 (tre-2/USP6, BUB2, cdc16) domain family,							106.0	107.0	107.0					4																	38016216		2203	4300	6503	SO:0001819	synonymous_variant	23216					nucleus	Rab GTPase activator activity	g.chr4:38016216G>A	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.504G>A	4.37:g.38016216G>A						TBC1D1_uc011byd.1_Silent_p.T168T|TBC1D1_uc010ifd.2_Intron|TBC1D1_uc011byf.1_Silent_p.T39T	p.T168T	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN			3	847	+			168					B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Silent	SNP	ENST00000261439.4	37	c.504G>A	CCDS33972.1																																																																																				0.617	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		29	228	0	0	0	0	29	228				
NOA1	84273	broad.mit.edu	37	4	57843646	57843646	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:57843646A>G	ENST00000264230.4	-	1	1343	c.106T>C	c.(106-108)Tgc>Cgc	p.C36R	POLR2B_ENST00000381227.1_5'Flank|POLR2B_ENST00000441246.2_5'Flank|POLR2B_ENST00000314595.5_5'Flank|POLR2B_ENST00000431623.2_5'Flank	NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	36					apoptotic process (GO:0006915)|GTP catabolic process (GO:0006184)|mitochondrial translation (GO:0032543)|regulation of cell death (GO:0010941)|regulation of cellular respiration (GO:0043457)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)										GCGGCAGCGCACCTCCTCTCC	0.657																																						uc003hck.2		NA																	0				ovary(1)|breast(1)	2						c.(106-108)TGC>CGC		hypothetical protein LOC84273							25.0	25.0	25.0					4																	57843646		2202	4299	6501	SO:0001583	missense	84273						GTP binding	g.chr4:57843646A>G	AK098215	CCDS3510.1	4q12	2013-05-24	2011-10-19	2011-10-19	ENSG00000084092	ENSG00000084092			28473	protein-coding gene	gene with protein product	"""nitric oxide synthase, mitochondrial (putative)"", ""mitochondrial GTPase 3 homolog (S. cerevisiae)"""	614919	"""chromosome 4 open reading frame 14"""	C4orf14		16380119, 2118999, 21771794, 22447445	Standard	NM_032313		Approved	MGC3232, hAtNOS1, hNOA1, MTG3	uc003hck.3	Q8NC60	OTTHUMG00000128773	ENST00000264230.4:c.106T>C	4.37:g.57843646A>G	ENSP00000264230:p.Cys36Arg					POLR2B_uc003hcl.1_5'Flank|POLR2B_uc011cae.1_5'Flank|POLR2B_uc011caf.1_5'Flank	p.C36R	NM_032313	NP_115689	Q8NC60	CD014_HUMAN			1	181	-	Glioma(25;0.08)|all_neural(26;0.181)		36					Q8N7L6|Q9BSQ9	Missense_Mutation	SNP	ENST00000264230.4	37	c.106T>C	CCDS3510.1	.	.	.	.	.	.	.	.	.	.	A	9.992	1.231199	0.22626	.	.	ENSG00000084092	ENST00000264230	T	0.31247	1.5	4.67	-4.63	0.03359	.	3.833190	0.00822	N	0.001588	T	0.18964	0.0455	N	0.17082	0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19224	-1.0312	10	0.40728	T	0.16	.	7.7873	0.29099	0.5271:0.1102:0.3627:0.0	.	36	Q8NC60	CD014_HUMAN	R	36	ENSP00000264230:C36R	ENSP00000264230:C36R	C	-	1	0	C4orf14	57538403	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.310000	0.08135	-1.310000	0.02312	-1.789000	0.00628	TGC		0.657	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250694.2	NM_032313		6	32	0	0	0	0	6	32				
SOWAHB	345079	broad.mit.edu	37	4	77817771	77817771	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:77817771C>A	ENST00000334306.2	-	1	1231	c.1232G>T	c.(1231-1233)gGg>gTg	p.G411V		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	411																	GTCTTTGGGCCCACTGCTGCT	0.567																																						uc003hki.2		NA																	0					0						c.(1231-1233)GGG>GTG		ankyrin repeat domain 56							60.0	68.0	65.0					4																	77817771		2203	4300	6503	SO:0001583	missense	345079							g.chr4:77817771C>A		CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212		"""Ankyrin repeat domain containing"""	32958	protein-coding gene	gene with protein product			"""ankyrin repeat domain 56"""	ANKRD56		22234889	Standard	NM_001029870		Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.1232G>T	4.37:g.77817771C>A	ENSP00000334879:p.Gly411Val						p.G411V	NM_001029870	NP_001025041	A6NEL2	ANR56_HUMAN			1	1232	-			411					B2RP29	Missense_Mutation	SNP	ENST00000334306.2	37	c.1232G>T	CCDS34017.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.352793	0.41700	.	.	ENSG00000186212	ENST00000334306	T	0.09911	2.93	5.05	3.29	0.37713	.	0.202733	0.24233	U	0.040340	T	0.17492	0.0420	L	0.34521	1.04	0.54753	D	0.999983	D	0.65815	0.995	P	0.61658	0.892	T	0.00862	-1.1536	10	0.66056	D	0.02	-6.4849	9.3874	0.38352	0.0:0.7746:0.1454:0.0801	.	411	A6NEL2	ANR56_HUMAN	V	411	ENSP00000334879:G411V	ENSP00000334879:G411V	G	-	2	0	ANKRD56	78036795	0.389000	0.25205	0.958000	0.39756	0.030000	0.12068	0.418000	0.21230	0.682000	0.31407	0.655000	0.94253	GGG		0.567	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362762.1	NM_001029870		23	204	1	0	3.1e-05	3.25e-05	23	204				
HERC6	55008	broad.mit.edu	37	4	89349789	89349789	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:89349789G>A	ENST00000264346.7	+	16	2052	c.1993G>A	c.(1993-1995)Gaa>Aaa	p.E665K	HERC6_ENST00000380265.5_Missense_Mutation_p.E629K	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	665					hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		AAAAAAGGATGAATTTCCTCC	0.378																																						uc011cdi.1		NA																	0				lung(3)|ovary(1)|kidney(1)	5						c.(1993-1995)GAA>AAA		hect domain and RLD 6 isoform 1							56.0	52.0	53.0					4																	89349789		1833	4084	5917	SO:0001583	missense	55008				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity	g.chr4:89349789G>A	AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"""hect domain and RLD 6"""				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.1993G>A	4.37:g.89349789G>A	ENSP00000264346:p.Glu665Lys					HERC6_uc011cdj.1_Missense_Mutation_p.E629K|HERC6_uc011cdk.1_RNA|HERC6_uc011cdl.1_RNA	p.E665K	NM_017912	NP_060382	Q8IVU3	HERC6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000222)	16	2176	+		Hepatocellular(203;0.114)	665					B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Missense_Mutation	SNP	ENST00000264346.7	37	c.1993G>A	CCDS47098.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.164727	0.38217	.	.	ENSG00000138642	ENST00000380265;ENST00000264346	T;T	0.76186	1.0;-1.0	4.11	2.29	0.28610	HECT (1);	1.313530	0.05605	N	0.577116	T	0.63698	0.2533	L	0.42245	1.32	0.09310	N	0.999999	B;B	0.30281	0.275;0.18	B;B	0.28916	0.096;0.044	T	0.44742	-0.9308	10	0.12430	T	0.62	.	5.9773	0.19387	0.2547:0.0:0.7453:0.0	.	629;665	Q8IVU3-2;Q8IVU3	.;HERC6_HUMAN	K	629;665	ENSP00000369617:E629K;ENSP00000264346:E665K	ENSP00000264346:E665K	E	+	1	0	HERC6	89568812	0.001000	0.12720	0.000000	0.03702	0.436000	0.31835	0.643000	0.24750	0.439000	0.26476	0.467000	0.42956	GAA		0.378	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363259.2			5	29	0	0	0	0	5	29				
H2AFZ	3015	broad.mit.edu	37	4	100869668	100869668	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:100869668T>C	ENST00000296417.5	-	5	555	c.338A>G	c.(337-339)cAc>cGc	p.H113R	RP11-15B17.1_ENST00000514624.1_RNA|DNAJB14_ENST00000471738.1_5'Flank|DNAJB14_ENST00000442697.2_5'Flank|RP11-15B17.1_ENST00000501976.2_RNA|H2AFZ_ENST00000529158.1_5'UTR|RP11-15B17.1_ENST00000507494.1_RNA	NM_002106.3	NP_002097.1	P0C0S5	H2AZ_HUMAN	H2A histone family, member Z	113					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular vesicular exosome (GO:0070062)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			breast(1)|endometrium(3)|lung(1)	5				OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)		TTTGTGGATGTGTGGAATGAC	0.368																																						uc003hvo.1		NA																	0					0						c.(337-339)CAC>CGC		H2A histone family, member Z							85.0	82.0	83.0					4																	100869668		2203	4300	6503	SO:0001583	missense	3015				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr4:100869668T>C	X52317	CCDS3654.1	4q23	2011-01-27			ENSG00000164032	ENSG00000164032		"""Histones / Replication-independent"""	4741	protein-coding gene	gene with protein product		142763		H2AZ		1697587	Standard	XM_005262971		Approved	H2A.Z	uc003hvo.1	P0C0S5	OTTHUMG00000131048	ENST00000296417.5:c.338A>G	4.37:g.100869668T>C	ENSP00000296417:p.His113Arg					DNAJB14_uc003hvl.2_5'Flank|DNAJB14_uc010ili.2_5'Flank|DNAJB14_uc003hvm.2_5'Flank|H2AFZ_uc003hvn.1_3'UTR|LOC256880_uc003hvp.1_5'Flank	p.H113R	NM_002106	NP_002097	P0C0S5	H2AZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)	5	523	-			113					B2RD56|P17317|Q6I9U0	Missense_Mutation	SNP	ENST00000296417.5	37	c.338A>G	CCDS3654.1	.	.	.	.	.	.	.	.	.	.	T	15.90	2.970250	0.53614	.	.	ENSG00000164032	ENST00000296417	D	0.83250	-1.7	5.22	5.22	0.72569	Histone-fold (1);Histone H2A (2);	0.000000	0.85682	D	0.000000	D	0.83298	0.5224	M	0.85462	2.755	0.80722	D	1	P	0.48162	0.906	B	0.36808	0.233	D	0.87135	0.2199	10	0.87932	D	0	-33.8746	15.1212	0.72443	0.0:0.0:0.0:1.0	.	113	P0C0S5	H2AZ_HUMAN	R	113	ENSP00000296417:H113R	ENSP00000296417:H113R	H	-	2	0	H2AFZ	101088691	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.204000	0.77872	1.967000	0.57214	0.533000	0.62120	CAC		0.368	H2AFZ-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000253695.1	NM_002106		12	117	0	0	0	0	12	117				
CENPE	1062	broad.mit.edu	37	4	104057410	104057410	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:104057410C>T	ENST00000265148.3	-	40	6499	c.6410G>A	c.(6409-6411)aGa>aAa	p.R2137K	CENPE_ENST00000380026.3_Missense_Mutation_p.R2016K	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2137	Kinetochore-binding domain.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGCTTTAACTCTCATTGAAAG	0.363																																						uc003hxb.1		NA																	0				ovary(5)|breast(4)	9						c.(6409-6411)AGA>AAA		centromere protein E							142.0	140.0	141.0					4																	104057410		2203	4300	6503	SO:0001583	missense	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104057410C>T	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.6410G>A	4.37:g.104057410C>T	ENSP00000265148:p.Arg2137Lys					CENPE_uc003hxc.1_Missense_Mutation_p.R2016K	p.R2137K	NM_001813	NP_001804	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	40	6500	-			2137			Kinetochore-binding domain.|Potential.		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	c.6410G>A	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	C	6.054	0.378285	0.11466	.	.	ENSG00000138778	ENST00000265148;ENST00000380026	T;T	0.69926	-0.09;-0.44	5.26	-0.0219	0.13949	.	.	.	.	.	T	0.43144	0.1234	N	0.25647	0.755	0.09310	N	1	B;B	0.12013	0.002;0.005	B;B	0.08055	0.003;0.003	T	0.26155	-1.0111	9	0.06757	T	0.87	.	5.0415	0.14462	0.0:0.4166:0.2946:0.2888	.	2016;2137	Q02224-3;Q02224	.;CENPE_HUMAN	K	2137;2016	ENSP00000265148:R2137K;ENSP00000369365:R2016K	ENSP00000265148:R2137K	R	-	2	0	CENPE	104276859	0.000000	0.05858	0.009000	0.14445	0.968000	0.65278	-0.660000	0.05317	-0.026000	0.13895	0.637000	0.83480	AGA		0.363	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				16	159	0	0	0	0	16	159				
PDE5A	8654	broad.mit.edu	37	4	120442176	120442176	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:120442176G>A	ENST00000354960.3	-	13	2138	c.1819C>T	c.(1819-1821)Cgg>Tgg	p.R607W	PDE5A_ENST00000264805.5_Missense_Mutation_p.R565W|PDE5A_ENST00000394439.1_Missense_Mutation_p.R555W|PDE5A_ENST00000512739.1_5'UTR|RP11-33B1.1_ENST00000498873.1_RNA	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	607	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	ACATTCTTCCGATAATTCTTC	0.348																																						uc003idh.2		NA																	0					0						c.(1819-1821)CGG>TGG		phosphodiesterase 5A isoform 1	Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)						148.0	152.0	150.0					4																	120442176		2202	4299	6501	SO:0001583	missense	8654				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding	g.chr4:120442176G>A	D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"""Phosphodiesterases"""	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.1819C>T	4.37:g.120442176G>A	ENSP00000347046:p.Arg607Trp					uc003ide.3_Intron|PDE5A_uc003idf.2_Missense_Mutation_p.R565W|PDE5A_uc003idg.2_Missense_Mutation_p.R555W|uc003idi.3_Intron	p.R607W	NM_001083	NP_001074	O76074	PDE5A_HUMAN			13	1974	-			607			Catalytic (By similarity).		A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Missense_Mutation	SNP	ENST00000354960.3	37	c.1819C>T	CCDS3713.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.271397	0.80469	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805	T;T;T	0.69306	-0.39;-0.31;-0.31	5.93	5.08	0.68730	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.046595	0.85682	D	0.000000	D	0.83995	0.5375	M	0.89353	3.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.87157	0.2212	10	0.87932	D	0	.	14.0907	0.64987	0.0:0.0:0.7257:0.2743	.	607;565	O76074;O76074-2	PDE5A_HUMAN;.	W	607;555;565	ENSP00000347046:R607W;ENSP00000377957:R555W;ENSP00000264805:R565W	ENSP00000264805:R565W	R	-	1	2	PDE5A	120661624	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.563000	0.53784	1.481000	0.48307	0.655000	0.94253	CGG		0.348	PDE5A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256529.1	NM_001083		14	245	0	0	0	0	14	245				
FAT4	79633	broad.mit.edu	37	4	126336687	126336687	+	Missense_Mutation	SNP	G	G	A	rs182837803		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:126336687G>A	ENST00000394329.3	+	5	6582	c.6569G>A	c.(6568-6570)cGc>cAc	p.R2190H	FAT4_ENST00000335110.5_Missense_Mutation_p.R488H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2190	Cadherin 21. {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						GGACAGGTTCGCTATGGCATT	0.413																																						uc003ifj.3		NA																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(6568-6570)CGC>CAC		FAT tumor suppressor homolog 4 precursor							171.0	153.0	159.0					4																	126336687		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126336687G>A	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.6569G>A	4.37:g.126336687G>A	ENSP00000377862:p.Arg2190His					FAT4_uc011cgp.1_Missense_Mutation_p.R488H	p.R2190H	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			5	6569	+			2190			Cadherin 21.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.6569G>A	CCDS3732.3	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	11.36	1.614369	0.28712	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.01767	4.65;4.65	5.6	4.73	0.59995	Cadherin (4);Cadherin-like (1);	0.000000	0.35235	U	0.003351	T	0.02807	0.0084	L	0.42245	1.32	0.53688	D	0.99997	B;B	0.18968	0.021;0.032	B;B	0.22753	0.021;0.041	T	0.52011	-0.8632	10	0.37606	T	0.19	.	16.1535	0.81640	0.0:0.1337:0.8663:0.0	.	488;2190	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	H	2190;488	ENSP00000377862:R2190H;ENSP00000335169:R488H	ENSP00000335169:R488H	R	+	2	0	FAT4	126556137	1.000000	0.71417	0.995000	0.50966	0.080000	0.17528	7.668000	0.83897	1.303000	0.44873	0.557000	0.71058	CGC		0.413	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		15	178	0	0	0	0	15	178				
LARP1B	55132	broad.mit.edu	37	4	129043274	129043274	+	Silent	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:129043274T>C	ENST00000326639.6	+	11	1666	c.1455T>C	c.(1453-1455)aaT>aaC	p.N485N	LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000264584.5_Silent_p.N438N|LARP1B_ENST00000441387.1_Silent_p.N485N|LARP1B_ENST00000427266.1_Silent_p.N485N|LARP1B_ENST00000512292.1_Silent_p.N485N	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	485						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						AAGTTATCAATGATGGCTTAT	0.403																																						uc003iga.2		NA																	0					0						c.(1453-1455)AAT>AAC		La ribonucleoprotein domain family member 2							107.0	100.0	102.0					4																	129043274		2203	4300	6503	SO:0001819	synonymous_variant	55132						RNA binding	g.chr4:129043274T>C		CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"""La ribonucleoprotein domain containing"""	24704	protein-coding gene	gene with protein product			"""La ribonucleoprotein domain family, member 2"""	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.1455T>C	4.37:g.129043274T>C						LARP1B_uc003igc.2_5'UTR|LARP1B_uc003ifz.1_Silent_p.N485N|LARP1B_uc003igb.1_Silent_p.N200N	p.N485N	NM_018078	NP_060548	Q659C4	LAR1B_HUMAN			11	1586	+			485					Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Silent	SNP	ENST00000326639.6	37	c.1455T>C	CCDS3738.1	.	.	.	.	.	.	.	.	.	.	T	6.372	0.436671	0.12104	.	.	ENSG00000138709	ENST00000507377	.	.	.	5.17	1.35	0.21983	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.351	0.38138	0.0:0.2105:0.0:0.7895	.	.	.	.	R	454	.	.	X	+	1	0	LARP1B	129262724	1.000000	0.71417	0.999000	0.59377	0.653000	0.38743	1.866000	0.39489	0.438000	0.26450	0.528000	0.53228	TGA		0.403	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257173.2	NM_018078		20	154	0	0	0	0	20	154				
MAML3	55534	broad.mit.edu	37	4	140641384	140641384	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:140641384C>G	ENST00000509479.2	-	5	3366	c.2510G>C	c.(2509-2511)gGa>gCa	p.G837A	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GGGTCCTATTCCCATCATGCC	0.607																																						uc003ihz.1		NA																	0				ovary(1)	1						c.(2494-2496)GGA>GCA		mastermind-like 3							157.0	161.0	160.0					4																	140641384		2119	4239	6358	SO:0001583	missense	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140641384C>G	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.2510G>C	4.37:g.140641384C>G	ENSP00000421180:p.Gly837Ala					MGST2_uc010ioi.1_Intron|MAML3_uc011chd.1_Missense_Mutation_p.G300A	p.G832A	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN			7	3247	-	all_hematologic(180;0.162)		833			Gln-rich.			Missense_Mutation	SNP	ENST00000509479.2	37	c.2495G>C	CCDS54805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.017|0.017	-1.496196|-1.496196	0.01009|0.01009	.|.	.|.	ENSG00000196782|ENSG00000196782	ENST00000502696|ENST00000509479;ENST00000538400	.|T	.|0.21932	.|1.98	5.81|5.81	3.97|3.97	0.46021|0.46021	.|.	.|0.381500	.|0.24141	.|N	.|0.041163	T|T	0.12860|0.12860	0.0312|0.0312	N|N	0.17674|0.17674	0.51|0.51	0.80722|0.80722	D|D	1|1	.|B;B	.|0.09022	.|0.002;0.002	.|B;B	.|0.08055	.|0.003;0.003	T|T	0.07443|0.07443	-1.0772|-1.0772	5|10	.|0.02654	.|T	.|1	.|.	16.7175|16.7175	0.85400|0.85400	0.0:0.5048:0.4952:0.0|0.0:0.5048:0.4952:0.0	.|.	.|837;833	.|E7EVW8;Q96JK9	.|.;MAML3_HUMAN	Q|A	181|837;144	.|ENSP00000421180:G837A	.|ENSP00000421180:G837A	E|G	-|-	1|2	0|0	MAML3|MAML3	140860834|140860834	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.203000|0.203000	0.24098|0.24098	2.354000|2.354000	0.44098|0.44098	1.384000|1.384000	0.46424|0.46424	0.655000|0.655000	0.94253|0.94253	GAA|GGA		0.607	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			14	277	0	0	0	0	14	277				
SMARCA5	8467	broad.mit.edu	37	4	144459762	144459762	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:144459762C>T	ENST00000283131.3	+	12	1977	c.1515C>T	c.(1513-1515)ttC>ttT	p.F505F		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	505	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					TACTAATCTTCAGTCAAATGA	0.373																																						uc003ijg.2		NA																	0				skin(1)	1						c.(1513-1515)TTC>TTT		SWI/SNF-related matrix-associated							105.0	106.0	106.0					4																	144459762		2203	4300	6503	SO:0001819	synonymous_variant	8467				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding	g.chr4:144459762C>T	AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.1515C>T	4.37:g.144459762C>T							p.F505F	NM_003601	NP_003592	O60264	SMCA5_HUMAN			12	1977	+	all_hematologic(180;0.158)		505			Helicase C-terminal.			Silent	SNP	ENST00000283131.3	37	c.1515C>T	CCDS3761.1																																																																																				0.373	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3			18	198	0	0	0	0	18	198				
KIAA0922	23240	broad.mit.edu	37	4	154517420	154517420	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:154517420C>T	ENST00000409663.3	+	20	2055	c.2003C>T	c.(2002-2004)tCt>tTt	p.S668F	KIAA0922_ENST00000409959.3_Missense_Mutation_p.S669F|KIAA0922_ENST00000440693.1_Missense_Mutation_p.S585F	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	668						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				GGTACGCATTCTGAGGAATCC	0.418																																						uc003inm.3		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(2002-2004)TCT>TTT		hypothetical protein LOC23240 isoform 2							206.0	181.0	189.0					4																	154517420		2203	4300	6503	SO:0001583	missense	23240					integral to membrane		g.chr4:154517420C>T	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.2003C>T	4.37:g.154517420C>T	ENSP00000386574:p.Ser668Phe					KIAA0922_uc010ipp.2_Missense_Mutation_p.S669F|KIAA0922_uc010ipq.2_Missense_Mutation_p.S437F	p.S668F	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN			20	2055	+	all_hematologic(180;0.093)	Renal(120;0.118)	668			Extracellular (Potential).		B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	c.2003C>T	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	C	13.34	2.207632	0.39003	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.19394	2.45;2.15;2.45;2.16	5.56	5.56	0.83823	.	0.724419	0.13905	N	0.354676	T	0.40067	0.1102	M	0.63843	1.955	0.09310	N	1	D;D;B	0.67145	0.996;0.989;0.176	P;P;B	0.59056	0.851;0.532;0.055	T	0.21484	-1.0244	10	0.51188	T	0.08	-5.122	13.8808	0.63682	0.1532:0.8468:0.0:0.0	.	585;669;668	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	F	668;585;669;446	ENSP00000386574:S668F;ENSP00000409663:S585F;ENSP00000386787:S669F;ENSP00000240487:S446F	ENSP00000240487:S446F	S	+	2	0	KIAA0922	154736870	0.001000	0.12720	0.607000	0.28956	0.365000	0.29674	1.181000	0.32017	2.630000	0.89119	0.591000	0.81541	TCT		0.418	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		18	232	0	0	0	0	18	232				
TKTL2	84076	broad.mit.edu	37	4	164394865	164394865	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:164394865G>A	ENST00000280605.3	-	1	182	c.22C>T	c.(22-24)Ccc>Tcc	p.P8S		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	8						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TTCACGTCGGGCTTGGCGTCG	0.637																																						uc003iqp.3		NA																	0				ovary(2)|skin(2)|pancreas(1)	5						c.(22-24)CCC>TCC		transketolase-like 2							30.0	27.0	28.0					4																	164394865		2203	4300	6503	SO:0001583	missense	84076					cytoplasm	metal ion binding|transketolase activity	g.chr4:164394865G>A	BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"""similar to transketolase"""					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.22C>T	4.37:g.164394865G>A	ENSP00000280605:p.Pro8Ser						p.P8S	NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN			1	183	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	8					A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	ENST00000280605.3	37	c.22C>T	CCDS3805.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.133697	0.56828	.	.	ENSG00000151005	ENST00000280605	D	0.89810	-2.57	3.69	1.84	0.25277	.	0.076614	0.52532	U	0.000062	D	0.91784	0.7401	M	0.71581	2.175	0.09310	N	1	D	0.62365	0.991	P	0.61003	0.882	D	0.85242	0.1039	10	0.72032	D	0.01	-1.5101	11.4303	0.50036	0.0:0.351:0.649:0.0	.	8	Q9H0I9	TKTL2_HUMAN	S	8	ENSP00000280605:P8S	ENSP00000280605:P8S	P	-	1	0	TKTL2	164614315	0.991000	0.36638	0.003000	0.11579	0.296000	0.27459	3.831000	0.55776	0.473000	0.27368	0.491000	0.48974	CCC		0.637	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		6	38	0	0	0	0	6	38				
VEGFC	7424	broad.mit.edu	37	4	177650751	177650751	+	Silent	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:177650751G>C	ENST00000280193.2	-	2	712	c.297C>G	c.(295-297)ctC>ctG	p.L99L	VEGFC_ENST00000507638.1_5'Flank	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	99					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TCCTTGAGTTGAGGTTGGCCT	0.373																																						uc003ius.1		NA																	0				lung(5)	5						c.(295-297)CTC>CTG		vascular endothelial growth factor C							157.0	144.0	148.0					4																	177650751		1910	4124	6034	SO:0001819	synonymous_variant	7424				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	g.chr4:177650751G>C	BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"""vascular endothelial growth factor-related protein"""	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.297C>G	4.37:g.177650751G>C							p.L99L	NM_005429	NP_005420	P49767	VEGFC_HUMAN		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)	2	727	-		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)	99					B2R9Q8	Silent	SNP	ENST00000280193.2	37	c.297C>G	CCDS43285.1																																																																																				0.373	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361991.1	NM_005429		7	122	0	0	0	0	7	122				
STOX2	56977	broad.mit.edu	37	4	184930441	184930441	+	Silent	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:184930441C>G	ENST00000308497.4	+	3	1885	c.450C>G	c.(448-450)ctC>ctG	p.L150L	STOX2_ENST00000438269.1_Silent_p.L150L	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	150					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CTCCTTCCCTCATAAGAACTA	0.532																																						uc003ivz.1		NA																	0					0						c.(448-450)CTC>CTG		storkhead box 2							78.0	77.0	77.0					4																	184930441		1993	4171	6164	SO:0001819	synonymous_variant	56977				embryo development|maternal placenta development			g.chr4:184930441C>G	AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.450C>G	4.37:g.184930441C>G						STOX2_uc003iwa.1_5'UTR	p.L150L	NM_020225	NP_064610	Q9P2F5	STOX2_HUMAN		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)	3	1885	+		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)	150					A6H8U4|Q9NPS8	Silent	SNP	ENST00000308497.4	37	c.450C>G	CCDS47167.1																																																																																				0.532	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	NM_020225		10	68	0	0	0	0	10	68				
PDLIM3	27295	broad.mit.edu	37	4	186425655	186425655	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:186425655G>A	ENST00000284770.5	-	7	952	c.879C>T	c.(877-879)ctC>ctT	p.L293L	PDLIM3_ENST00000284767.5_3'UTR|PDLIM3_ENST00000284771.6_Silent_p.L245L	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	293	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin filament organization (GO:0007015)|heart development (GO:0007507)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of muscle (GO:0008307)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		ATTTGTCACAGAGCGGCATCC	0.502																																						uc003ixw.3		NA																	0				ovary(2)	2						c.(877-879)CTC>CTT		PDZ and LIM domain protein 3 isoform a							73.0	64.0	67.0					4																	186425655		2203	4300	6503	SO:0001819	synonymous_variant	27295					sarcomere	zinc ion binding	g.chr4:186425655G>A	AF002280	CCDS3844.1, CCDS47172.1, CCDS75218.1, CCDS75219.1	4q35	2014-09-17			ENSG00000154553	ENSG00000154553			20767	protein-coding gene	gene with protein product		605889				10063829, 8828038	Standard	NM_014476		Approved	ALP	uc003ixw.4	Q53GG5	OTTHUMG00000160412	ENST00000284770.5:c.879C>T	4.37:g.186425655G>A						PDLIM3_uc003ixx.3_Silent_p.L245L|PDLIM3_uc010isi.2_RNA	p.L293L	NM_014476	NP_055291	Q53GG5	PDLI3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)	7	1003	-		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)	293			LIM zinc-binding.		B2R866|O43590|O60439|O60440|Q8N6Y6|Q9BVP4	Silent	SNP	ENST00000284770.5	37	c.879C>T	CCDS3844.1																																																																																				0.502	PDLIM3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360499.2	NM_014476		5	59	0	0	0	0	5	59				
MARCH6	10299	broad.mit.edu	37	5	10405790	10405790	+	Splice_Site	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:10405790G>A	ENST00000274140.5	+	16	1584		c.e16+1		MARCH6_ENST00000503788.1_Splice_Site|MARCH6_ENST00000510792.1_Splice_Site|MARCH6_ENST00000449913.2_Splice_Site	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase						protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TTTGTCAGTGGTAAGAAGATG	0.328																																						uc003jet.1		NA																	0				ovary(1)|breast(1)	2						c.e16+1		membrane-associated ring finger (C3HC4) 6							103.0	102.0	102.0					5																	10405790		2203	4300	6503	SO:0001630	splice_region_variant	10299				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10405790G>A	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.1452+1G>A	5.37:g.10405790G>A						MARCH6_uc011cmu.1_Splice_Site_p.V436_splice|MARCH6_uc003jeu.1_Splice_Site_p.V182_splice|MARCH6_uc011cmv.1_Splice_Site_p.V379_splice	p.V484_splice	NM_005885	NP_005876	O60337	MARH6_HUMAN			16	1635	+								A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Splice_Site	SNP	ENST00000274140.5	37	c.1452_splice	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182419	0.78677	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140;ENST00000510792	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.422	0.99049	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MARCH6	10458790	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	9.399000	0.97285	2.832000	0.97577	0.655000	0.94253	.		0.328	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885	Intron	6	99	0	0	0	0	6	99				
MYO10	4651	broad.mit.edu	37	5	16694554	16694554	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:16694554G>A	ENST00000513610.1	-	27	4180	c.3726C>T	c.(3724-3726)cgC>cgT	p.R1242R	MYO10_ENST00000274203.9_Silent_p.R599R|MYO10_ENST00000505695.1_Silent_p.R581R|MYO10_ENST00000427430.2_Silent_p.R599R|MYO10_ENST00000515803.1_Silent_p.R581R	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1242	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GCTTGGACTGGCGGAGGACAA	0.572																																						uc003jft.3		NA																	0				ovary(2)|pancreas(1)	3						c.(3724-3726)CGC>CGT		myosin X							118.0	119.0	118.0					5																	16694554		1977	4160	6137	SO:0001819	synonymous_variant	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16694554G>A	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.3726C>T	5.37:g.16694554G>A						MYO10_uc011cnc.1_Silent_p.R121R|MYO10_uc011cnd.1_Silent_p.R599R|MYO10_uc011cne.1_Silent_p.R599R|MYO10_uc010itx.2_Silent_p.R865R	p.R1242R	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN			27	4194	-			1242			PH 1.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Silent	SNP	ENST00000513610.1	37	c.3726C>T	CCDS54834.1																																																																																				0.572	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		21	195	0	0	0	0	21	195				
CDH9	1007	broad.mit.edu	37	5	26906877	26906877	+	Silent	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:26906877G>C	ENST00000231021.4	-	4	766	c.594C>G	c.(592-594)gtC>gtG	p.V198V		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	198	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATATGCTATAGACCACTTTGG	0.398																																					Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1		NA																	0				ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(592-594)GTC>GTG		cadherin 9, type 2 preproprotein							127.0	113.0	117.0					5																	26906877		2203	4300	6503	SO:0001819	synonymous_variant	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26906877G>C	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.594C>G	5.37:g.26906877G>C						CDH9_uc010iug.2_Silent_p.V198V	p.V198V	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			4	763	-			198			Extracellular (Potential).|Cadherin 2.		Q3B7I5	Silent	SNP	ENST00000231021.4	37	c.594C>G	CCDS3893.1																																																																																				0.398	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		9	80	0	0	0	0	9	80				
EGFLAM	133584	broad.mit.edu	37	5	38427202	38427202	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:38427202C>T	ENST00000354891.3	+	14	2248	c.1902C>T	c.(1900-1902)ttC>ttT	p.F634F	EGFLAM_ENST00000397202.2_5'UTR|EGFLAM_ENST00000322350.5_Silent_p.F634F|EGFLAM_ENST00000336740.6_Silent_p.F400F|EGFLAM-AS1_ENST00000508986.1_RNA	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	634	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					ACCTTTCCTTCATGGAATTTG	0.493																																					Colon(62;485 1295 3347 17454)	uc003jlc.1		NA																	0				pancreas(3)|skin(3)|ovary(1)	7						c.(1900-1902)TTC>TTT		EGF-like, fibronectin type III and laminin G							152.0	148.0	149.0					5																	38427202		2203	4300	6503	SO:0001819	synonymous_variant	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38427202C>T	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.1902C>T	5.37:g.38427202C>T						EGFLAM_uc003jlb.1_Silent_p.F634F|EGFLAM_uc003jle.1_Silent_p.F400F|EGFLAM_uc003jlf.1_5'UTR	p.F634F	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN			14	2226	+	all_lung(31;0.000385)		634			Laminin G-like 2.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Silent	SNP	ENST00000354891.3	37	c.1902C>T	CCDS56363.1																																																																																				0.493	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		25	193	0	0	0	0	25	193				
MROH2B	133558	broad.mit.edu	37	5	41019061	41019061	+	Missense_Mutation	SNP	C	C	T	rs199943039		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:41019061C>T	ENST00000399564.4	-	25	2951	c.2501G>A	c.(2500-2502)cGg>cAg	p.R834Q	MROH2B_ENST00000506092.2_Missense_Mutation_p.R389Q	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	834																	CAGCAGCCTCCGAATATTCTC	0.458																																						uc003jmj.3		NA																	0				ovary(6)|central_nervous_system(2)	8						c.(2500-2502)CGG>CAG		HEAT repeat family member 7B2							85.0	83.0	84.0					5																	41019061		1946	4131	6077	SO:0001583	missense	133558						binding	g.chr5:41019061C>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.2501G>A	5.37:g.41019061C>T	ENSP00000382476:p.Arg834Gln					HEATR7B2_uc003jmi.3_Missense_Mutation_p.R389Q	p.R834Q	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			25	2991	-			834					Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.2501G>A	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945791	0.73672	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.05025	3.51;3.51	6.02	5.15	0.70609	Armadillo-type fold (1);	0.000000	0.53938	D	0.000054	T	0.12902	0.0313	L	0.41236	1.265	0.38990	D	0.959128	D	0.89917	1.0	D	0.64687	0.928	T	0.07443	-1.0772	10	0.22109	T	0.4	.	10.2047	0.43105	0.0:0.9126:0.0:0.0874	.	834	Q7Z745	HTRB2_HUMAN	Q	389;539;834	ENSP00000441504:R389Q;ENSP00000382476:R834Q	ENSP00000296803:R539Q	R	-	2	0	HEATR7B2	41054818	0.962000	0.33011	0.996000	0.52242	0.885000	0.51271	2.064000	0.41432	2.865000	0.98341	0.655000	0.94253	CGG		0.458	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		9	47	0	0	0	0	9	47				
HCN1	348980	broad.mit.edu	37	5	45262736	45262736	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:45262736T>C	ENST00000303230.4	-	8	2017	c.1960A>G	c.(1960-1962)Acg>Gcg	p.T654A		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	654					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GTCGGGGTCGTAGTAGACGAT	0.537																																						uc003jok.2		NA																	0				ovary(1)	1						c.(1960-1962)ACG>GCG		hyperpolarization activated cyclic							190.0	180.0	183.0					5																	45262736		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262736T>C	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1960A>G	5.37:g.45262736T>C	ENSP00000307342:p.Thr654Ala						p.T654A	NM_021072	NP_066550	O60741	HCN1_HUMAN			8	1985	-			654			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000303230.4	37	c.1960A>G	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	T	0.011	-1.731364	0.00687	.	.	ENSG00000164588	ENST00000303230	T	0.71103	-0.54	5.52	-1.26	0.09376	.	0.297613	0.28317	N	0.015781	T	0.45756	0.1358	N	0.22421	0.69	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.32981	-0.9886	10	0.06891	T	0.86	.	8.03	0.30459	0.0:0.4029:0.114:0.4831	.	654	O60741	HCN1_HUMAN	A	654	ENSP00000307342:T654A	ENSP00000307342:T654A	T	-	1	0	HCN1	45298493	0.011000	0.17503	0.000000	0.03702	0.001000	0.01503	0.069000	0.14552	-0.451000	0.07097	-0.316000	0.08728	ACG		0.537	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		21	146	0	0	0	0	21	146				
VCAN	1462	broad.mit.edu	37	5	82843897	82843897	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:82843897G>A	ENST00000265077.3	+	10	10052	c.9487G>A	c.(9487-9489)Gag>Aag	p.E3163K	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Missense_Mutation_p.E422K|VCAN_ENST00000342785.4_Missense_Mutation_p.E1409K|VCAN-AS1_ENST00000513899.1_RNA|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.E2176K|VCAN_ENST00000512590.2_Missense_Mutation_p.E1361K	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3163	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TGCACTTTGTGAGCAAGGTAA	0.388																																						uc003kii.3		NA																	0				ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(9487-9489)GAG>AAG		versican isoform 1 precursor							188.0	167.0	174.0					5																	82843897		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82843897G>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.9487G>A	5.37:g.82843897G>A	ENSP00000265077:p.Glu3163Lys					VCAN_uc003kij.3_Missense_Mutation_p.E2176K|VCAN_uc010jau.2_Missense_Mutation_p.E1409K|VCAN_uc003kik.3_Missense_Mutation_p.E422K|VCAN_uc003kil.3_Missense_Mutation_p.E1827K	p.E3163K	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	10	9843	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	3163			EGF-like 2; calcium-binding (Potential).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.9487G>A	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	34	5.351307	0.95830	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000502527	D;D;D;D;D	0.95001	-3.58;-3.58;-3.58;-3.58;-3.58	5.56	5.56	0.83823	C-type lectin-like (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.116123	0.39407	N	0.001363	D	0.97704	0.9247	M	0.88704	2.975	0.51233	D	0.999914	D;D;P;D	0.89917	1.0;0.961;0.876;0.999	D;P;P;D	0.70935	0.971;0.616;0.901;0.937	D	0.98150	1.0441	10	0.72032	D	0.01	.	19.5334	0.95239	0.0:0.0:1.0:0.0	.	1409;422;2176;3163	P13611-3;P13611-4;P13611-2;P13611	.;.;.;CSPG2_HUMAN	K	3163;2176;1409;1361;422	ENSP00000265077:E3163K;ENSP00000340062:E2176K;ENSP00000342768:E1409K;ENSP00000425959:E1361K;ENSP00000421362:E422K	ENSP00000265077:E3163K	E	+	1	0	VCAN	82879653	1.000000	0.71417	0.993000	0.49108	0.949000	0.60115	9.832000	0.99423	2.616000	0.88540	0.650000	0.86243	GAG		0.388	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		10	110	0	0	0	0	10	110				
FBN2	2201	broad.mit.edu	37	5	127670419	127670419	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:127670419C>T	ENST00000508053.1	-	37	5065	c.4091G>A	c.(4090-4092)gGa>gAa	p.G1364E	FBN2_ENST00000262464.4_Missense_Mutation_p.G1364E|FBN2_ENST00000507835.1_Missense_Mutation_p.G214E|FBN2_ENST00000508989.1_Missense_Mutation_p.G1331E			P35556	FBN2_HUMAN	fibrillin 2	1364	EGF-like 21; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACCTGTACATCCTGTGGTCCC	0.428																																						uc003kuu.2		NA																	0				ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(4090-4092)GGA>GAA		fibrillin 2 precursor							138.0	122.0	127.0					5																	127670419		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127670419C>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.4091G>A	5.37:g.127670419C>T	ENSP00000424571:p.Gly1364Glu					FBN2_uc003kuv.2_Missense_Mutation_p.G1331E	p.G1364E	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	31	4530	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1364			EGF-like 21; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.4091G>A	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.925395	0.92319	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000507835;ENST00000508989	D;D;D;D	0.91351	-2.83;-2.83;-2.83;-2.83	4.96	4.96	0.65561	EGF-like region, conserved site (1);EGF-like calcium-binding (2);	0.000000	0.64402	D	0.000013	D	0.92241	0.7539	L	0.27053	0.805	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92460	0.5977	10	0.49607	T	0.09	.	18.8164	0.92079	0.0:1.0:0.0:0.0	.	1331;1364	D6RJI3;P35556	.;FBN2_HUMAN	E	1364;1364;214;1331	ENSP00000262464:G1364E;ENSP00000424571:G1364E;ENSP00000426839:G214E;ENSP00000425596:G1331E	ENSP00000262464:G1364E	G	-	2	0	FBN2	127698318	1.000000	0.71417	0.703000	0.30354	0.958000	0.62258	7.609000	0.82925	2.743000	0.94032	0.650000	0.86243	GGA		0.428	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		9	162	0	0	0	0	9	162				
RAPGEF6	51735	broad.mit.edu	37	5	130782325	130782325	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:130782325C>T	ENST00000509018.1	-	22	3477	c.3272G>A	c.(3271-3273)cGc>cAc	p.R1091H	RAPGEF6_ENST00000512052.1_Missense_Mutation_p.R814H|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.R1099H|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.R1104H|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.R1099H|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.R1091H|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.R1141H	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1091					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AGAGCTGCGGCGTGCCCTTTT	0.453																																					Melanoma(168;435 1955 13113 13877 23213)	uc003kvn.1		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(3271-3273)CGC>CAC		PDZ domain-containing guanine nucleotide							165.0	156.0	159.0					5																	130782325		2203	4300	6503	SO:0001583	missense	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130782325C>T	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.3272G>A	5.37:g.130782325C>T	ENSP00000421684:p.Arg1091His					RAPGEF6_uc003kvp.1_Missense_Mutation_p.R1141H|RAPGEF6_uc003kvo.1_Missense_Mutation_p.R1104H|RAPGEF6_uc010jdi.1_Missense_Mutation_p.R1099H|RAPGEF6_uc010jdj.1_Missense_Mutation_p.R1099H|RAPGEF6_uc003kvq.2_Missense_Mutation_p.R816H|RAPGEF6_uc003kvr.2_Missense_Mutation_p.R1091H|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc003kvm.1_Missense_Mutation_p.R14H	p.R1091H	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	22	3478	-			1091					A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	c.3272G>A	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	C	35	5.427640	0.96131	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000512052;ENST00000308008;ENST00000514667	T;T;T;T;T;T;T	0.32023	1.72;1.57;1.57;1.65;1.47;1.52;1.82	5.63	5.63	0.86233	Guanine-nucleotide dissociation stimulator CDC25 (1);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.60222	0.2252	M	0.78801	2.425	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.998	D;D;D;D;D;D;D	0.97110	0.995;0.974;0.998;0.999;0.999;1.0;0.961	T	0.62859	-0.6765	10	0.72032	D	0.01	.	19.6634	0.95882	0.0:1.0:0.0:0.0	.	1099;1099;1091;814;1141;1104;1091	A3KN82;B7ZML2;Q8TEU7-2;D6RE77;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;.;RPGF6_HUMAN	H	1091;1104;1099;1099;1104;814;1091;1141	ENSP00000421684:R1091H;ENSP00000309298:R1104H;ENSP00000426081:R1099H;ENSP00000296859:R1099H;ENSP00000426910:R814H;ENSP00000311419:R1091H;ENSP00000426948:R1141H	ENSP00000426948:R1141H	R	-	2	0	RAPGEF6;FNIP1	130810224	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.772000	0.85439	2.649000	0.89929	0.555000	0.69702	CGC		0.453	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		31	270	0	0	0	0	31	270				
PCDHA12	56137	broad.mit.edu	37	5	140256838	140256838	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:140256838T>C	ENST00000398631.2	+	1	1781	c.1781T>C	c.(1780-1782)gTg>gCg	p.V594A	PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	594	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGCGAAAGTGCGCGCGGTG	0.692																																					Pancreas(113;759 1672 13322 24104 50104)	uc003lic.2		NA																	0					0						c.(1780-1782)GTG>GCG		protocadherin alpha 12 isoform 1 precursor							346.0	312.0	324.0					5																	140256838		2203	4299	6502	SO:0001583	missense	56137				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140256838T>C	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1781T>C	5.37:g.140256838T>C	ENSP00000381628:p.Val594Ala					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.V594A	p.V594A	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1908	+			594			Cadherin 6.|Extracellular (Potential).		O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	c.1781T>C	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.010157	0.75046	.	.	ENSG00000251664	ENST00000398631	T	0.58210	0.35	4.71	4.71	0.59529	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.75796	0.3898	M	0.92026	3.265	0.27891	N	0.939317	D;D	0.71674	0.996;0.998	P;P	0.62435	0.897;0.902	T	0.73097	-0.4090	9	0.87932	D	0	.	13.8645	0.63581	0.0:0.0:0.0:1.0	.	594;594	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	A	594	ENSP00000381628:V594A	ENSP00000381628:V594A	V	+	2	0	PCDHA12	140237022	0.993000	0.37304	1.000000	0.80357	0.787000	0.44495	5.659000	0.68010	1.752000	0.51891	0.459000	0.35465	GTG		0.692	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		10	92	0	0	0	0	10	92				
PCDHB14	56122	broad.mit.edu	37	5	140604569	140604569	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:140604569C>A	ENST00000239449.4	+	1	1492	c.1492C>A	c.(1492-1494)Ctg>Atg	p.L498M	PCDHB14_ENST00000515856.2_Missense_Mutation_p.L345M	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	498	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGACCGGCACCTGCCCCTCGC	0.652																																					Ovarian(141;50 1831 27899 33809 37648)	uc003ljb.2		NA																	0				ovary(1)	1						c.(1492-1494)CTG>ATG		protocadherin beta 14 precursor							94.0	102.0	99.0					5																	140604569		2203	4300	6503	SO:0001583	missense	56122				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140604569C>A	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1492C>A	5.37:g.140604569C>A	ENSP00000239449:p.Leu498Met					PCDHB14_uc011dal.1_Missense_Mutation_p.L345M	p.L498M	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1492	+			498			Extracellular (Potential).|Cadherin 5.		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	c.1492C>A	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	6.192	0.403646	0.11754	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.03607	3.87;3.87	4.15	3.27	0.37495	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.06050	0.0157	L	0.49126	1.545	0.09310	N	1	P	0.45078	0.85	P	0.46585	0.521	T	0.31943	-0.9925	9	0.48119	T	0.1	.	5.965	0.19320	0.0:0.6726:0.2174:0.1099	.	498	Q9Y5E9	PCDBE_HUMAN	M	345;498	ENSP00000444518:L345M;ENSP00000239449:L498M	ENSP00000239449:L498M	L	+	1	2	PCDHB14	140584753	0.000000	0.05858	0.021000	0.16686	0.126000	0.20510	0.423000	0.21313	0.882000	0.36016	0.556000	0.70494	CTG		0.652	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		25	162	1	0	7.34e-06	7.72e-06	25	162				
PCDHGB1	56104	broad.mit.edu	37	5	140731194	140731194	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:140731194A>G	ENST00000523390.1	+	1	1367	c.1367A>G	c.(1366-1368)cAc>cGc	p.H456R	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	456	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATGTGGTCCACGTGTCTGAG	0.562																																						uc003ljo.1		NA																	0					0						c.(1366-1368)CAC>CGC		protocadherin gamma subfamily B, 1 isoform 1							70.0	80.0	76.0					5																	140731194		2131	4250	6381	SO:0001583	missense	56104				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140731194A>G	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.1367A>G	5.37:g.140731194A>G	ENSP00000429273:p.His456Arg					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Missense_Mutation_p.H456R	p.H456R	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1367	+			456			Extracellular (Potential).|Cadherin 5.		Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	37	c.1367A>G	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	10.35	1.325108	0.24080	.	.	ENSG00000254221	ENST00000523390	T	0.01665	4.7	5.49	5.49	0.81192	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.03915	0.0110	N	0.11673	0.155	0.19575	N	0.999963	P;P	0.49185	0.732;0.92	P;P	0.62560	0.586;0.904	T	0.53549	-0.8423	9	0.66056	D	0.02	.	15.5567	0.76200	1.0:0.0:0.0:0.0	.	456;456	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	R	456	ENSP00000429273:H456R	ENSP00000429273:H456R	H	+	2	0	PCDHGB1	140711378	0.002000	0.14202	0.435000	0.26784	0.028000	0.11728	1.857000	0.39399	2.212000	0.71576	0.460000	0.39030	CAC		0.562	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		6	68	0	0	0	0	6	68				
PCDHGA5	56110	broad.mit.edu	37	5	140744135	140744135	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:140744135C>T	ENST00000518069.1	+	1	238	c.238C>T	c.(238-240)Cga>Tga	p.R80*	PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	80	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGAACCCGCGAAGCGGCAG	0.607																																						uc003lju.1		NA																	0				ovary(4)	4						c.(238-240)CGA>TGA		protocadherin gamma subfamily A, 5 isoform 1							50.0	60.0	56.0					5																	140744135		2195	4298	6493	SO:0001587	stop_gained	56110				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140744135C>T	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.238C>T	5.37:g.140744135C>T	ENSP00000429834:p.Arg80*					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Nonsense_Mutation_p.R80*	p.R80*	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	238	+			80			Cadherin 1.|Extracellular (Potential).		Q2M3F5|Q9Y5D2	Nonsense_Mutation	SNP	ENST00000518069.1	37	c.238C>T	CCDS54925.1	.	.	.	.	.	.	.	.	.	.	.	10.41	1.341214	0.24339	.	.	ENSG00000253485	ENST00000518069	.	.	.	5.38	-4.75	0.03239	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.1789	0.42955	0.3747:0.1841:0.4412:0.0	.	.	.	.	X	80	.	ENSP00000429834:R80X	R	+	1	2	PCDHGA5	140724319	0.000000	0.05858	0.007000	0.13788	0.071000	0.16799	-0.696000	0.05104	-0.524000	0.06400	-0.318000	0.08688	CGA		0.607	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		13	115	0	0	0	0	13	115				
DIAPH1	1729	broad.mit.edu	37	5	140962827	140962827	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:140962827G>A	ENST00000398557.4	-	6	706	c.566C>T	c.(565-567)gCc>gTc	p.A189V	DIAPH1_ENST00000520569.1_Missense_Mutation_p.A135V|DIAPH1_ENST00000398566.3_Missense_Mutation_p.A180V|DIAPH1_ENST00000389054.3_Missense_Mutation_p.A189V|DIAPH1_ENST00000253811.6_Missense_Mutation_p.A189V|DIAPH1_ENST00000398562.2_Missense_Mutation_p.A180V|DIAPH1_ENST00000389057.5_Missense_Mutation_p.A180V|DIAPH1_ENST00000518047.1_Missense_Mutation_p.A180V	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	189	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATAAGGAGGCCAAGCCTTC	0.413																																						uc003llb.3		NA																	0				skin(1)	1						c.(565-567)GCC>GTC		diaphanous 1 isoform 1							168.0	161.0	163.0					5																	140962827		1935	4150	6085	SO:0001583	missense	1729				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding	g.chr5:140962827G>A	BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"""diaphanous (Drosophila, homolog) 1"", ""diaphanous homolog 1 (Drosophila)"""	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.566C>T	5.37:g.140962827G>A	ENSP00000381565:p.Ala189Val					DIAPH1_uc003llc.3_Missense_Mutation_p.A180V	p.A189V	NM_005219	NP_005210	O60610	DIAP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		6	707	-			189			GBD/FH3.		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Missense_Mutation	SNP	ENST00000398557.4	37	c.566C>T	CCDS43374.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.127748	0.77549	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047	D;D;D;D;D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4;-2.4;-2.4;-2.4;-2.4	5.92	5.92	0.95590	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.000000	0.64402	D	0.000001	D	0.85305	0.5666	L	0.36672	1.1	0.39836	D	0.973048	D;D	0.57899	0.976;0.981	B;B	0.43838	0.355;0.433	D	0.87098	0.2177	10	0.56958	D	0.05	.	14.5829	0.68305	0.0:0.0:0.8533:0.1467	.	180;189	E9PEZ2;O60610	.;DIAP1_HUMAN	V	189;135;180;180;180;189;189;180	ENSP00000373706:A189V;ENSP00000429282:A135V;ENSP00000381570:A180V;ENSP00000373709:A180V;ENSP00000381572:A180V;ENSP00000381565:A189V;ENSP00000253811:A189V;ENSP00000428268:A180V	ENSP00000253811:A189V	A	-	2	0	DIAPH1	140943011	0.996000	0.38824	1.000000	0.80357	0.988000	0.76386	3.878000	0.56130	2.810000	0.96702	0.650000	0.86243	GCC		0.413	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219		14	295	0	0	0	0	14	295				
CPEB4	80315	broad.mit.edu	37	5	173380196	173380196	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:173380196C>T	ENST00000265085.5	+	9	3337	c.1883C>T	c.(1882-1884)gCg>gTg	p.A628V	CPEB4_ENST00000522336.1_Missense_Mutation_p.A238V|CPEB4_ENST00000334035.5_Missense_Mutation_p.A611V|CPEB4_ENST00000519467.1_3'UTR|CPEB4_ENST00000517880.1_Missense_Mutation_p.A221V|CPEB4_ENST00000520867.1_Missense_Mutation_p.A603V|CPEB4_ENST00000519835.1_Missense_Mutation_p.A603V	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	628	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GGGAGAGTTGCGTTCTCTAAT	0.463																																						uc003mcs.3		NA																	0					0						c.(1882-1884)GCG>GTG		cytoplasmic polyadenylation element binding							142.0	139.0	140.0					5																	173380196		2203	4300	6503	SO:0001583	missense	80315						nucleotide binding|RNA binding	g.chr5:173380196C>T	BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"""RNA binding motif (RRM) containing"""	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.1883C>T	5.37:g.173380196C>T	ENSP00000265085:p.Ala628Val					CPEB4_uc010jju.1_Missense_Mutation_p.A603V|CPEB4_uc010jjv.2_Missense_Mutation_p.A611V|CPEB4_uc011dfg.1_Missense_Mutation_p.A603V|CPEB4_uc003mct.3_Missense_Mutation_p.A238V|CPEB4_uc003mcu.3_Missense_Mutation_p.A221V	p.A628V	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		9	3289	+	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	628			RRM 2.		B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Missense_Mutation	SNP	ENST00000265085.5	37	c.1883C>T	CCDS4390.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.560851	0.86335	.	.	ENSG00000113742	ENST00000265085;ENST00000520867;ENST00000334035;ENST00000519835;ENST00000522336;ENST00000517880	T;T;T;T;T;T	0.18657	2.2;2.2;2.2;2.2;2.2;2.2	5.75	5.75	0.90469	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.26412	0.0645	N	0.19112	0.55	0.80722	D	1	D;P;P;P;P	0.56968	0.978;0.724;0.873;0.794;0.794	P;P;P;B;B	0.51833	0.681;0.509;0.459;0.153;0.362	T	0.01356	-1.1376	10	0.62326	D	0.03	-12.2936	20.3046	0.98621	0.0:1.0:0.0:0.0	.	603;611;603;238;628	B7ZLQ8;Q17RY0-2;E5RJM0;E5RFP2;Q17RY0	.;.;.;.;CPEB4_HUMAN	V	628;603;611;603;238;221	ENSP00000265085:A628V;ENSP00000429092:A603V;ENSP00000334533:A611V;ENSP00000429048:A603V;ENSP00000430345:A238V;ENSP00000427990:A221V	ENSP00000265085:A628V	A	+	2	0	CPEB4	173312802	1.000000	0.71417	0.979000	0.43373	0.927000	0.56198	7.776000	0.85560	2.878000	0.98634	0.650000	0.86243	GCG		0.463	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	NM_030627		18	206	0	0	0	0	18	206				
GNB2L1	10399	broad.mit.edu	37	5	180666085	180666085	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:180666085G>A	ENST00000512805.1	-	5	1026	c.618C>T	c.(616-618)ctC>ctT	p.L206L	GNB2L1_ENST00000505461.1_5'Flank|GNB2L1_ENST00000514455.1_5'Flank|GNB2L1_ENST00000504726.1_Intron|GNB2L1_ENST00000376817.4_Silent_p.L162L|GNB2L1_ENST00000511900.1_Silent_p.L158L|GNB2L1_ENST00000511566.1_Silent_p.L206L|SNORD96A_ENST00000606577.1_RNA	NM_006098.4	NP_006089.1	P63244	GBLP_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1	206					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cell cycle (GO:0007049)|gastrulation (GO:0007369)|negative regulation of cell growth (GO:0030308)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron death (GO:1903208)|negative regulation of phagocytosis (GO:0050765)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of translation (GO:0017148)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of cell migration (GO:0030335)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of gastrulation (GO:2000543)|positive regulation of GTPase activity (GO:0043547)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein phosphorylation (GO:0001934)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of protein localization (GO:0032880)|rhythmic process (GO:0048511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|phagocytic cup (GO:0001891)|small ribosomal subunit (GO:0015935)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|ion channel inhibitor activity (GO:0008200)|poly(A) RNA binding (GO:0044822)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase inhibitor activity (GO:0030292)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|SH2 domain binding (GO:0042169)			lung(3)|skin(2)	5	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)		CAGAAGCACAGAGGGATCCAT	0.517																																						uc003mni.1		NA																	0					0						c.(616-618)CTC>CTT		guanine nucleotide binding protein (G protein),							245.0	209.0	221.0					5																	180666085		2203	4300	6503	SO:0001819	synonymous_variant	10399				apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|negative regulation of Wnt receptor signaling pathway|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of GTPase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process	cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit	ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding|SH2 domain binding	g.chr5:180666085G>A	M24194	CCDS34324.1	5q35.3	2013-01-10				ENSG00000204628		"""WD repeat domain containing"""	4399	protein-coding gene	gene with protein product	"""Receptor for Activated C Kinase 1"""	176981				8302854, 2499885	Standard	NM_006098		Approved	Gnb2-rs1, RACK1, H12.3	uc003mni.1	P63244		ENST00000512805.1:c.618C>T	5.37:g.180666085G>A						GNB2L1_uc003mnh.1_Silent_p.L165L|GNB2L1_uc003mnk.1_Silent_p.L128L|GNB2L1_uc003mnj.1_Silent_p.L160L|GNB2L1_uc003mnl.1_5'UTR|GNB2L1_uc011dhk.1_Silent_p.L206L|GNB2L1_uc010jls.2_3'UTR	p.L206L	NM_006098	NP_006089	P63244	GBLP_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)	5	724	-	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	206			WD 5.		B3KTJ0|D3DWS0|P25388|P99049|Q53HU2|Q5J8M6|Q5VLR4|Q6FH47	Silent	SNP	ENST00000512805.1	37	c.618C>T	CCDS34324.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.293108	0.23564	.	.	ENSG00000204628	ENST00000507756;ENST00000509535	.	.	.	5.55	1.59	0.23543	.	.	.	.	.	T	0.58850	0.2151	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51387	-0.8712	4	.	.	.	-20.4511	10.4613	0.44581	0.0777:0.5438:0.3785:0.0	.	.	.	.	F	137;64	.	.	S	-	2	0	GNB2L1	180598691	0.997000	0.39634	0.998000	0.56505	0.997000	0.91878	0.476000	0.22180	0.012000	0.14892	0.591000	0.81541	TCT		0.517	GNB2L1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372943.2	NM_006098		15	260	0	0	0	0	15	260				
DSP	1832	broad.mit.edu	37	6	7574448	7574448	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:7574448G>A	ENST00000379802.3	+	16	2601	c.2260G>A	c.(2260-2262)Gaa>Aaa	p.E754K	DSP_ENST00000418664.2_Missense_Mutation_p.E754K	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	754	Globular 1.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TCAGAAACTGGAAAATATCAA	0.353																																						uc003mxp.1		NA																	0				central_nervous_system(6)|ovary(2)|skin(1)	9						c.(2260-2262)GAA>AAA		desmoplakin isoform I							87.0	86.0	87.0					6																	7574448		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7574448G>A	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.2260G>A	6.37:g.7574448G>A	ENSP00000369129:p.Glu754Lys					DSP_uc003mxq.1_Missense_Mutation_p.E754K	p.E754K	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	16	2539	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	754			Globular 1.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.2260G>A	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025897	0.93518	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	T;T	0.80824	-1.42;-1.42	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000013	T	0.78188	0.4244	N	0.24115	0.695	0.47441	D	0.999422	D;D	0.63880	0.993;0.993	D;D	0.70935	0.971;0.971	T	0.74247	-0.3727	10	0.18276	T	0.48	.	19.451	0.94867	0.0:0.0:1.0:0.0	.	801;754	Q4LE79;P15924	.;DESP_HUMAN	K	754;754;559	ENSP00000369129:E754K;ENSP00000396591:E754K	ENSP00000369129:E754K	E	+	1	0	DSP	7519447	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.390000	0.73204	2.593000	0.87608	0.655000	0.94253	GAA		0.353	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		9	151	0	0	0	0	9	151				
DSP	1832	broad.mit.edu	37	6	7574454	7574454	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:7574454A>T	ENST00000379802.3	+	16	2607	c.2266A>T	c.(2266-2268)Atc>Ttc	p.I756F	DSP_ENST00000418664.2_Missense_Mutation_p.I756F	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	756	Globular 1.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ACTGGAAAATATCAATGGTGT	0.348																																						uc003mxp.1		NA																	0				central_nervous_system(6)|ovary(2)|skin(1)	9						c.(2266-2268)ATC>TTC		desmoplakin isoform I							87.0	86.0	86.0					6																	7574454		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7574454A>T	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.2266A>T	6.37:g.7574454A>T	ENSP00000369129:p.Ile756Phe					DSP_uc003mxq.1_Missense_Mutation_p.I756F	p.I756F	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	16	2545	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	756			Globular 1.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.2266A>T	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.441438	0.83993	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	T;T	0.81078	-1.45;-1.45	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000015	T	0.78432	0.4282	N	0.19112	0.55	0.51482	D	0.999927	D;D	0.65815	0.995;0.995	D;D	0.72982	0.979;0.979	T	0.82946	-0.0205	10	0.56958	D	0.05	.	15.657	0.77144	1.0:0.0:0.0:0.0	.	803;756	Q4LE79;P15924	.;DESP_HUMAN	F	756;756;561	ENSP00000369129:I756F;ENSP00000396591:I756F	ENSP00000369129:I756F	I	+	1	0	DSP	7519453	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.046000	0.71029	2.097000	0.63578	0.533000	0.62120	ATC		0.348	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		8	154	0	0	0	0	8	154				
TFAP2A	7020	broad.mit.edu	37	6	10404781	10404781	+	Missense_Mutation	SNP	C	C	G	rs151344526		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:10404781C>G	ENST00000482890.1	-	5	1076	c.724G>C	c.(724-726)Gag>Cag	p.E242Q	TFAP2A_ENST00000379604.2_Missense_Mutation_p.E242Q|TFAP2A_ENST00000379608.3_Missense_Mutation_p.E236Q|TFAP2A_ENST00000497266.1_5'UTR|TFAP2A_ENST00000379613.3_Missense_Mutation_p.E244Q|TFAP2A_ENST00000319516.4_Missense_Mutation_p.E238Q			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	242					anterior neuropore closure (GO:0021506)|basement membrane organization (GO:0071711)|bone morphogenesis (GO:0060349)|cellular response to iron ion (GO:0071281)|cornea development in camera-type eye (GO:0061303)|embryonic body morphogenesis (GO:0010172)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|embryonic pattern specification (GO:0009880)|epidermis morphogenesis (GO:0048730)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|keratinocyte development (GO:0003334)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|oculomotor nerve formation (GO:0021623)|optic cup structural organization (GO:0003409)|optic vesicle morphogenesis (GO:0003404)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell differentiation (GO:0045595)|regulation of neuron differentiation (GO:0045664)|retina layer formation (GO:0010842)|sensory perception of sound (GO:0007605)|sympathetic nervous system development (GO:0048485)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				TTGAGACACTCGGGTGGTGAG	0.706																																						uc003myr.2		NA																	0				ovary(1)	1						c.(724-726)GAG>CAG		transcription factor AP-2 alpha isoform a							26.0	23.0	24.0					6																	10404781		2203	4300	6503	SO:0001583	missense	7020				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr6:10404781C>G	X52611	CCDS4510.1, CCDS34337.1, CCDS43422.1	6p24.3	2013-09-19	2001-11-28		ENSG00000137203	ENSG00000137203			11742	protein-coding gene	gene with protein product		107580	"""transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha)"""	TFAP2, AP2TF		1916817, 3063603	Standard	NM_001032280		Approved	AP-2	uc003myr.3	P05549	OTTHUMG00000014235	ENST00000482890.1:c.724G>C	6.37:g.10404781C>G	ENSP00000418541:p.Glu242Gln					TFAP2A_uc003myq.2_Missense_Mutation_p.E236Q|TFAP2A_uc003mys.2_RNA|TFAP2A_uc011dih.1_Missense_Mutation_p.E242Q|TFAP2A_uc003myt.2_Missense_Mutation_p.E238Q|TFAP2A_uc003myu.1_Missense_Mutation_p.E242Q	p.E242Q	NM_003220	NP_003211	P05549	AP2A_HUMAN			4	976	-	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)	242					Q13777|Q5TAV5|Q8N1C6	Missense_Mutation	SNP	ENST00000482890.1	37	c.724G>C	CCDS4510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.348514|5.348514	0.95807|0.95807	.|.	.|.	ENSG00000137203|ENSG00000137203	ENST00000379613;ENST00000379604;ENST00000319516;ENST00000379608;ENST00000482890;ENST00000466073;ENST00000498450|ENST00000461628	D;D;D;D;D;D;D|.	0.98901|.	-5.22;-5.22;-5.22;-5.22;-5.22;-5.22;-5.22|.	5.17|5.17	4.31|4.31	0.51392|0.51392	Transcription factor AP-2, C-terminal (1);|.	0.108699|.	0.64402|.	D|.	0.000004|.	T|T	0.80534|0.80534	0.4641|0.4641	M|M	0.93062|0.93062	3.375|3.375	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.71674|.	0.994;0.998;0.984;0.984;0.971|.	P;D;P;P;P|.	0.87578|.	0.867;0.998;0.788;0.788;0.877|.	D|D	0.85845|0.85845	0.1400|0.1400	10|5	0.87932|.	D|.	0|.	-11.7105|-11.7105	13.6117|13.6117	0.62083|0.62083	0.0:0.9241:0.0:0.0759|0.0:0.9241:0.0:0.0759	.|.	242;244;238;242;236|.	C1K3N0;Q96SH0;Q5TAV5;P05549;Q8N1C6|.	.;.;.;AP2A_HUMAN;.|.	Q|P	244;242;238;236;242;242;99|16	ENSP00000368933:E244Q;ENSP00000368924:E242Q;ENSP00000316516:E238Q;ENSP00000368928:E236Q;ENSP00000418541:E242Q;ENSP00000417495:E242Q;ENSP00000419961:E99Q|.	ENSP00000316516:E238Q|.	E|R	-|-	1|2	0|0	TFAP2A|TFAP2A	10512767|10512767	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.999000|0.999000	0.98932|0.98932	7.496000|7.496000	0.81526|0.81526	1.308000|1.308000	0.44962|0.44962	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.706	TFAP2A-007	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353619.2	NM_003220		5	24	0	0	0	0	5	24				
SLC17A4	10050	broad.mit.edu	37	6	25762243	25762243	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:25762243G>A	ENST00000377905.4	+	2	172	c.53G>A	c.(52-54)gGc>gAc	p.G18D	SLC17A4_ENST00000397076.2_5'UTR|SLC17A4_ENST00000439485.2_Missense_Mutation_p.G18D	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	18					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)	p.G18D(1)		breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCCAGTGATGGCAATTTAAAC	0.418																																						uc003nfe.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	skin(1)	1						c.(52-54)GGC>GAC		solute carrier family 17 (sodium phosphate),							83.0	76.0	79.0					6																	25762243		2203	4300	6503	SO:0001583	missense	10050				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	g.chr6:25762243G>A	AB020527	CCDS4564.1, CCDS75411.1	6p22.2	2013-07-18	2013-07-18		ENSG00000146039	ENSG00000146039		"""Solute carriers"""	10932	protein-coding gene	gene with protein product		604216	"""solute carrier family 17 (sodium phosphate), member 4"""			10319585	Standard	NM_005495		Approved	KIAA2138	uc003nfe.3	Q9Y2C5	OTTHUMG00000014410	ENST00000377905.4:c.53G>A	6.37:g.25762243G>A	ENSP00000367137:p.Gly18Asp					SLC17A4_uc011djx.1_Missense_Mutation_p.G18D|SLC17A4_uc003nff.1_5'UTR|SLC17A4_uc003nfg.2_5'UTR	p.G18D	NM_005495	NP_005486	Q9Y2C5	S17A4_HUMAN			2	172	+			18					B4DDV9|E7EPE8|E7EU17|Q32MB7|Q32MB8	Missense_Mutation	SNP	ENST00000377905.4	37	c.53G>A	CCDS4564.1	.	.	.	.	.	.	.	.	.	.	G	8.496	0.863118	0.17250	.	.	ENSG00000146039	ENST00000377905;ENST00000439485	T;T	0.74209	-0.06;-0.82	4.15	-0.852	0.10713	Major facilitator superfamily domain, general substrate transporter (1);	2.313570	0.01865	N	0.036852	T	0.27559	0.0677	N	0.08118	0	0.09310	N	0.999999	B;B	0.26081	0.141;0.002	B;B	0.22753	0.041;0.003	T	0.14643	-1.0465	10	0.12103	T	0.63	.	7.5399	0.27731	0.5058:0.0:0.4942:0.0	.	18;18	E7EPE8;Q9Y2C5	.;S17A4_HUMAN	D	18	ENSP00000367137:G18D;ENSP00000391345:G18D	ENSP00000367137:G18D	G	+	2	0	SLC17A4	25870222	0.000000	0.05858	0.000000	0.03702	0.218000	0.24690	-0.350000	0.07721	-0.188000	0.10499	0.557000	0.71058	GGC		0.418	SLC17A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040068.1			10	80	0	0	0	0	10	80				
HIST1H2AC	8334	broad.mit.edu	37	6	26124494	26124494	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:26124494C>T	ENST00000602637.1	+	1	64	c.34C>T	c.(34-36)Cgc>Tgc	p.R12C	HIST1H2BC_ENST00000396984.1_5'Flank|HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.R12C|HIST1H2BC_ENST00000314332.5_5'Flank			Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	12						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						AGGCAAAGCTCGCGCCAAAGC	0.542																																						uc003ngm.2		NA																	0					0						c.(34-36)CGC>TGC		histone cluster 1, H2ac							54.0	54.0	54.0					6																	26124494		2203	4300	6503	SO:0001583	missense	8334				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26124494C>T	Z80778	CCDS4585.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000180573	ENSG00000180573		"""Histones / Replication-dependent"""	4733	protein-coding gene	gene with protein product		602794	"""H2A histone family, member L"", ""histone 1, H2ac"""	H2AFL		9119399, 12408966	Standard	NM_003512		Approved		uc003ngm.3	Q93077	OTTHUMG00000014428	ENST00000602637.1:c.34C>T	6.37:g.26124494C>T	ENSP00000473534:p.Arg12Cys					HIST1H2BC_uc003ngk.3_5'Flank|HIST1H2BC_uc003ngl.2_5'Flank|HIST1H2AC_uc003ngn.2_RNA|HIST1H2AC_uc003ngo.2_RNA|HIST1H2AC_uc003ngp.2_Missense_Mutation_p.R12C	p.R12C	NM_003512	NP_003503	Q93077	H2A1C_HUMAN			1	122	+			12					B2R4F7|O00775|O00776|O00777|O00778|Q540R1	Missense_Mutation	SNP	ENST00000602637.1	37	c.34C>T	CCDS4585.1	.	.	.	.	.	.	.	.	.	.	.	15.80	2.941124	0.53079	.	.	ENSG00000180573	ENST00000377791;ENST00000314088	T;T	0.47528	0.84;0.84	5.78	5.78	0.91487	Histone-fold (2);Histone H2A (1);	0.000000	0.43747	D	0.000529	T	0.54175	0.1842	M	0.89904	3.07	0.52501	D	0.999955	P	0.52577	0.954	B	0.43301	0.415	T	0.68473	-0.5399	10	0.87932	D	0	.	19.3632	0.94451	0.0:1.0:0.0:0.0	.	12	Q93077	H2A1C_HUMAN	C	12	ENSP00000367022:R12C;ENSP00000321389:R12C	ENSP00000321389:R12C	R	+	1	0	HIST1H2AC	26232473	0.573000	0.26676	0.430000	0.26722	0.157000	0.22087	1.156000	0.31712	2.894000	0.99253	0.591000	0.81541	CGC		0.542	HIST1H2AC-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468023.1	NM_003512		6	58	0	0	0	0	6	58				
ZNF311	282890	broad.mit.edu	37	6	28962832	28962832	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:28962832G>A	ENST00000377179.3	-	7	2459	c.1947C>T	c.(1945-1947)ctC>ctT	p.L649L	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	649					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						TCACTGGAGAGAGGGATTTCC	0.413																																						uc003nlu.2		NA																	0					0						c.(1945-1947)CTC>CTT		zinc finger protein 311							106.0	80.0	89.0					6																	28962832		1511	2709	4220	SO:0001819	synonymous_variant	282890				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:28962832G>A	AL833166	CCDS34357.1	6p21.33	2013-01-08			ENSG00000197935	ENSG00000197935		"""Zinc fingers, C2H2-type"", ""-"""	13847	protein-coding gene	gene with protein product							Standard	XM_006715067		Approved		uc003nlu.2	Q5JNZ3	OTTHUMG00000031292	ENST00000377179.3:c.1947C>T	6.37:g.28962832G>A						ZNF311_uc011dlk.1_Silent_p.L557L|ZNF311_uc003nlv.2_Silent_p.L557L	p.L649L	NM_001010877	NP_001010877	Q5JNZ3	ZN311_HUMAN			7	2460	-			649					A2BFK5|B0S7Y4|Q92971	Silent	SNP	ENST00000377179.3	37	c.1947C>T	CCDS34357.1																																																																																				0.413	ZNF311-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076631.3	XM_212581		11	100	0	0	0	0	11	100				
OR2J2	26707	broad.mit.edu	37	6	29141556	29141556	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:29141556C>G	ENST00000377167.2	+	1	246	c.144C>G	c.(142-144)atC>atG	p.I48M		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	48						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						TCATCATCATCCTGTCATACG	0.443																																						uc011dlm.1		NA																	0					0						c.(142-144)ATC>ATG		olfactory receptor, family 2, subfamily J,							172.0	164.0	167.0					6																	29141556		2028	4215	6243	SO:0001583	missense	26707				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29141556C>G		CCDS43434.1	6p22.2-p21.31	2012-08-09			ENSG00000204700	ENSG00000204700		"""GPCR / Class A : Olfactory receptors"""	8260	protein-coding gene	gene with protein product							Standard	NM_030905		Approved	OR6-8, hs6M1-6, dJ80I19.4	uc011dlm.2	O76002	OTTHUMG00000031091	ENST00000377167.2:c.144C>G	6.37:g.29141556C>G	ENSP00000366372:p.Ile48Met						p.I48M	NM_030905	NP_112167	O76002	OR2J2_HUMAN			1	246	+			48			Helical; Name=1; (Potential).		A6NCU9|A6NLD0|B0UY53|Q32N09|Q5ST39|Q5SUJ6|Q6IF24|Q9GZK2|Q9GZL3	Missense_Mutation	SNP	ENST00000377167.2	37	c.144C>G	CCDS43434.1	.	.	.	.	.	.	.	.	.	.	C	7.752	0.703476	0.15172	.	.	ENSG00000204700	ENST00000377167	T	0.01119	5.31	1.92	1.92	0.25849	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00608	0.0020	L	0.43554	1.36	0.09310	N	1	P	0.42556	0.783	B	0.41988	0.372	T	0.52756	-0.8533	9	0.56958	D	0.05	.	7.3249	0.26549	0.2621:0.7379:0.0:0.0	.	48	O76002	OR2J2_HUMAN	M	48	ENSP00000366372:I48M	ENSP00000366372:I48M	I	+	3	3	OR2J2	29249535	0.000000	0.05858	0.724000	0.30704	0.524000	0.34500	-1.686000	0.01929	1.366000	0.46076	0.205000	0.17691	ATC		0.443	OR2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076131.2			26	363	0	0	0	0	26	363				
TRIM10	10107	broad.mit.edu	37	6	30122127	30122127	+	Silent	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:30122127C>A	ENST00000449742.2	-	7	1140	c.1065G>T	c.(1063-1065)ctG>ctT	p.L355L	TRIM10_ENST00000376704.3_Silent_p.L355L	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	355	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				erythrocyte differentiation (GO:0030218)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			ovary(1)	1						CAGTGTGGGCCAGAACACAGG	0.612																																						uc003npo.3		NA																	0					0						c.(1063-1065)CTG>CTT		tripartite motif-containing 10 isoform 1							49.0	50.0	49.0					6																	30122127		1511	2708	4219	SO:0001819	synonymous_variant	10107					cytoplasm	zinc ion binding	g.chr6:30122127C>A	Y07829	CCDS4676.1, CCDS34375.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000204613	ENSG00000204613		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10072	protein-coding gene	gene with protein product		605701	"""tripartite motif-containing 10"""	RNF9		9271628, 10207104	Standard	NM_052828		Approved	RFB30, HERF1	uc003npo.3	Q9UDY6	OTTHUMG00000031295	ENST00000449742.2:c.1065G>T	6.37:g.30122127C>A						TRIM10_uc003npn.2_Silent_p.L355L	p.L355L	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN			7	1141	-			355			B30.2/SPRY.		A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Silent	SNP	ENST00000449742.2	37	c.1065G>T	CCDS34375.1																																																																																				0.612	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076634.1			5	72	1	0	0.000602214	0.000621774	5	72				
HLA-C	3107	broad.mit.edu	37	6	31238116	31238116	+	Nonsense_Mutation	SNP	C	C	A	rs281860566		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:31238116C>A	ENST00000376228.5	-	4	780	c.766G>T	c.(766-768)Gag>Tag	p.E256*	HLA-C_ENST00000383329.3_Nonsense_Mutation_p.E256*	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	256	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						GGCCTGGTCTCCACAAGCTCG	0.627																																						uc003nsy.2		NA																	0					0						c.(766-768)GAG>TAG		major histocompatibility complex, class I, C							54.0	45.0	48.0					6																	31238116		2203	4300	6503	SO:0001587	stop_gained	3107				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex		g.chr6:31238116C>A	M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4933	protein-coding gene	gene with protein product		142840	"""psoriasis susceptibility 1"""	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.766G>T	6.37:g.31238116C>A	ENSP00000365402:p.Glu256*					HLA-C_uc011dnj.1_Nonsense_Mutation_p.E228*|HLA-C_uc003nsx.2_Nonsense_Mutation_p.E135*|HLA-C_uc003nsz.2_Nonsense_Mutation_p.E256*|HLA-C_uc010jsl.2_Nonsense_Mutation_p.E256*|HLA-C_uc003nta.2_Nonsense_Mutation_p.E256*|HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_Intron|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Intron|HLA-C_uc011dnl.1_Nonsense_Mutation_p.E135*	p.E256*	NM_002117	NP_002108	Q9TNN7	1C05_HUMAN			4	773	-			256			Extracellular (Potential).|Alpha-3.|Ig-like C1-type.		O02864|O02958|Q29643|Q9MY30	Nonsense_Mutation	SNP	ENST00000376228.5	37	c.766G>T	CCDS34393.1	.	.	.	.	.	.	.	.	.	.	.	13.06	2.124147	0.37533	.	.	ENSG00000204525	ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307	.	.	.	2.67	1.78	0.24846	.	0.231155	0.21097	U	0.080233	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.5453	0.17061	0.0:0.8394:0.0:0.1606	.	.	.	.	X	256;256;256;293	.	ENSP00000365402:E256X	E	-	1	0	HLA-C	31346095	0.001000	0.12720	0.998000	0.56505	0.054000	0.15201	0.193000	0.17116	0.699000	0.31761	0.298000	0.19748	GAG		0.627	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		9	114	1	0	0.00448238	0.00456553	9	114				
RUNX2	860	broad.mit.edu	37	6	45390398	45390398	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:45390398A>G	ENST00000371438.1	+	2	485	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	RUNX2_ENST00000465038.2_Missense_Mutation_p.S43G|RUNX2_ENST00000576263.1_Missense_Mutation_p.S43G|RUNX2_ENST00000541979.1_Missense_Mutation_p.S111G|RUNX2_ENST00000371432.3_Missense_Mutation_p.S29G|RUNX2_ENST00000352853.5_Missense_Mutation_p.S111G|RUNX2_ENST00000371436.6_Missense_Mutation_p.S43G|RUNX2_ENST00000359524.5_Missense_Mutation_p.S29G|RP1-244F24.1_ENST00000606796.1_RNA	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	43					BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GAGCGACGTGAGCCCGGTGGT	0.657																																						uc011dvx.1		NA																	0				ovary(2)|skin(1)	3						c.(127-129)AGC>GGC		runt-related transcription factor 2 isoform a							31.0	42.0	38.0					6																	45390398		1961	3922	5883	SO:0001583	missense	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390398A>G	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.127A>G	6.37:g.45390398A>G	ENSP00000360493:p.Ser43Gly					RUNX2_uc011dvy.1_Missense_Mutation_p.S43G|RUNX2_uc003oxt.2_Missense_Mutation_p.S29G	p.S43G	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN			3	337	+			43					O14614|O14615|O95181	Missense_Mutation	SNP	ENST00000371438.1	37	c.127A>G	CCDS43467.2	.	.	.	.	.	.	.	.	.	.	A	13.14	2.148722	0.37923	.	.	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	T;T;T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98;1.98;1.98	3.06	3.06	0.35304	.	0.432330	0.26262	N	0.025393	T	0.17577	0.0422	L	0.34521	1.04	0.51233	D	0.999911	B;B;P	0.52577	0.065;0.049;0.954	B;B;D	0.63597	0.025;0.016;0.916	T	0.02109	-1.1212	10	0.25751	T	0.34	3.4079	11.3199	0.49415	1.0:0.0:0.0:0.0	.	111;43;29	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	G	43;111;111;43;43;29;29	ENSP00000420707:S43G;ENSP00000319087:S111G;ENSP00000446290:S111G;ENSP00000360493:S43G;ENSP00000360491:S43G;ENSP00000352514:S29G;ENSP00000360486:S29G	ENSP00000319087:S111G	S	+	1	0	RUNX2	45498376	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.904000	0.56325	1.394000	0.46624	0.334000	0.21626	AGC		0.657	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		8	49	0	0	0	0	8	49				
EFHC1	114327	broad.mit.edu	37	6	52318995	52318995	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:52318995C>T	ENST00000371068.5	+	5	929	c.826C>T	c.(826-828)Cga>Tga	p.R276*	EFHC1_ENST00000433625.2_Nonsense_Mutation_p.R185*|EFHC1_ENST00000538167.1_Nonsense_Mutation_p.R257*	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	276	DM10 2. {ECO:0000255|PROSITE- ProRule:PRU00665}.					axoneme (GO:0005930)|neuronal cell body (GO:0043025)	calcium ion binding (GO:0005509)|protein C-terminus binding (GO:0008022)	p.R276*(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					GGTGGAAATTCGAGAGGTCCA	0.448																																						uc003pap.3		NA																	1	Substitution - Nonsense(1)		large_intestine(1)	ovary(2)|skin(1)	3						c.(826-828)CGA>TGA		EF-hand domain (C-terminal) containing 1							179.0	162.0	167.0					6																	52318995		2203	4300	6503	SO:0001587	stop_gained	114327					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding	g.chr6:52318995C>T	AK001328	CCDS4942.1, CCDS55021.1	6p12.3	2014-02-04			ENSG00000096093	ENSG00000096093		"""EF-hand domain containing"""	16406	protein-coding gene	gene with protein product	"""myoclonin-1"""	608815	"""epilepsy, juvenile myoclonic 1"""	EJM1, EJM		15258581	Standard	NM_018100		Approved	FLJ10466	uc003pap.4	Q5JVL4	OTTHUMG00000014848	ENST00000371068.5:c.826C>T	6.37:g.52318995C>T	ENSP00000360107:p.Arg276*					EFHC1_uc011dwv.1_Nonsense_Mutation_p.R185*|EFHC1_uc011dww.1_Nonsense_Mutation_p.R257*	p.R276*	NM_018100	NP_060570	Q5JVL4	EFHC1_HUMAN			5	1041	+	Lung NSC(77;0.109)		276			DM10 2.		B4DMU3|F5GZD8|Q5XKM4|Q6E1U7|Q6E1U8|Q8WUL2|Q9NVW6	Nonsense_Mutation	SNP	ENST00000371068.5	37	c.826C>T	CCDS4942.1	.	.	.	.	.	.	.	.	.	.	C	38	6.971522	0.97971	.	.	ENSG00000096093	ENST00000371068;ENST00000433625;ENST00000538167	.	.	.	5.87	4.99	0.66335	.	0.250637	0.40469	N	0.001087	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-0.2299	14.2317	0.65898	0.2703:0.7297:0.0:0.0	.	.	.	.	X	276;185;257	.	ENSP00000360107:R276X	R	+	1	2	EFHC1	52426954	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.974000	0.29436	1.460000	0.47911	0.591000	0.81541	CGA		0.448	EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040905.2	NM_018100		18	163	0	0	0	0	18	163				
KHDRBS2	202559	broad.mit.edu	37	6	62995847	62995848	+	Missense_Mutation	DNP	CT	CT	GG			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:62995847_62995848CT>GG	ENST00000281156.4	-	1	284_285	c.6_7AG>CC	c.(4-9)gaAGag>gaCCag	p.2_3EE>DQ		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	2					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TATTTCTCCTCTTCCATAGCGC	0.609																																						uc003peg.2		NA																	0				skin(7)|ovary(3)|liver(1)	11						c.(4-9)GAAGAG>GACCAG		KH domain-containing, RNA-binding, signal																																				SO:0001583	missense	202559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr6:62995847_62995848CT>GG	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"""Sam68-like mammalian protein 1"""	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.6_7delinsGG	6.37:g.62995847_62995848delinsGG	ENSP00000281156:p.E2_E3delinsDQ						p.2_3EE>DQ	NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)	1	253_254	-			2_3					A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	DNP	ENST00000281156.4	37	c.6_7AG>CC	CCDS4963.1																																																																																				0.609	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688		4	33	0	0	0	0	4	33				
CD109	135228	broad.mit.edu	37	6	74520797	74520797	+	Missense_Mutation	SNP	C	C	T	rs528060701		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:74520797C>T	ENST00000287097.5	+	28	3741	c.3629C>T	c.(3628-3630)aCg>aTg	p.T1210M	CD109_ENST00000422508.2_Missense_Mutation_p.T1133M|CD109_ENST00000437994.2_Missense_Mutation_p.T1210M			Q6YHK3	CD109_HUMAN	CD109 molecule	1210					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTGACCGTGACGGGGCCTAGC	0.458													c|||	1	0.000199681	0.0008	0.0	5008	,	,		17933	0.0		0.0	False		,,,				2504	0.0					uc003php.2		NA																	0				large_intestine(2)|ovary(2)	4						c.(3628-3630)ACG>ATG		CD109 antigen isoform 1 precursor							116.0	109.0	112.0					6																	74520797		2203	4300	6503	SO:0001583	missense	135228					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr6:74520797C>T	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.3629C>T	6.37:g.74520797C>T	ENSP00000287097:p.Thr1210Met					CD109_uc010kaz.2_Intron|CD109_uc003phq.2_Missense_Mutation_p.T1210M|CD109_uc010kba.2_Missense_Mutation_p.T1133M	p.T1210M	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN			28	4054	+			1210					A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	c.3629C>T	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	c	2.361	-0.346564	0.05208	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.25749	1.79;1.99;1.78	5.2	-10.4	0.00318	.	0.915680	0.09490	N	0.795024	T	0.04182	0.0116	N	0.24115	0.695	0.09310	N	1	B;B;B	0.24576	0.106;0.104;0.008	B;B;B	0.26094	0.03;0.066;0.009	T	0.26224	-1.0109	10	0.27082	T	0.32	.	11.3033	0.49320	0.1679:0.576:0.0:0.2561	.	1133;1210;1210	Q6YHK3-2;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	M	1210;1133;1210	ENSP00000388062:T1210M;ENSP00000404475:T1133M;ENSP00000287097:T1210M	ENSP00000287097:T1210M	T	+	2	0	CD109	74577518	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.352000	0.01091	-2.326000	0.00637	-2.133000	0.00342	ACG		0.458	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		18	133	0	0	0	0	18	133				
HTR1B	3351	broad.mit.edu	37	6	78173080	78173080	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:78173080G>A	ENST00000369947.2	-	1	410	c.41C>T	c.(40-42)gCg>gTg	p.A14V		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	14					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|bone remodeling (GO:0046849)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to temperature stimulus (GO:0071502)|drinking behavior (GO:0042756)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Methysergide(DB00247)|Naratriptan(DB00952)|Olanzapine(DB00334)|Ondansetron(DB00904)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CTCGGAGCCCGCGGGCGGCGG	0.642																																						uc003pil.1		NA																	0					0						c.(40-42)GCG>GTG		5-hydroxytryptamine (serotonin) receptor 1B	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)						65.0	69.0	68.0					6																	78173080		2203	4300	6503	SO:0001583	missense	3351				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity	g.chr6:78173080G>A	BC069065	CCDS4986.1	6q13	2012-08-08	2012-02-03		ENSG00000135312	ENSG00000135312		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5287	protein-coding gene	gene with protein product		182131	"""5-hydroxytryptamine (serotonin) receptor 1B"""			1348246, 11247661	Standard	NM_000863		Approved	S12, 5-HT1B, HTR1D2, 5-HT1DB	uc003pil.1	P28222	OTTHUMG00000015066	ENST00000369947.2:c.41C>T	6.37:g.78173080G>A	ENSP00000358963:p.Ala14Val						p.A14V	NM_000863	NP_000854	P28222	5HT1B_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.205)	1	41	-		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)	14			Extracellular (By similarity).		Q4VAY7	Missense_Mutation	SNP	ENST00000369947.2	37	c.41C>T	CCDS4986.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.315695	0.23908	.	.	ENSG00000135312	ENST00000369947	T	0.61859	0.07	5.31	1.33	0.21861	.	0.592084	0.14695	N	0.303937	T	0.15219	0.0367	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25676	-1.0125	9	.	.	.	.	5.2582	0.15558	0.2516:0.1476:0.6008:0.0	.	14	P28222	5HT1B_HUMAN	V	14	ENSP00000358963:A14V	.	A	-	2	0	HTR1B	78229799	0.159000	0.22864	0.042000	0.18584	0.155000	0.21991	1.614000	0.36911	0.251000	0.21505	-0.258000	0.10820	GCG		0.642	HTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041292.1	NM_000863		10	130	0	0	0	0	10	130				
USP45	85015	broad.mit.edu	37	6	99894228	99894228	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:99894228T>C	ENST00000327681.6	-	14	1952	c.1420A>G	c.(1420-1422)Agc>Ggc	p.S474G	USP45_ENST00000500704.2_Missense_Mutation_p.S474G|USP45_ENST00000392738.2_Missense_Mutation_p.S154G|USP45_ENST00000369233.2_Missense_Mutation_p.S426G|USP45_ENST00000539675.1_Intron	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	474	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		TTCATGAGGCTGGCAAACATT	0.398																																						uc003ppx.2		NA																	0				ovary(1)|breast(1)	2						c.(1420-1422)AGC>GGC		ubiquitin specific peptidase 45							70.0	64.0	66.0					6																	99894228		2203	4300	6503	SO:0001583	missense	85015				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:99894228T>C	AL832030	CCDS34501.1	6q16.2	2008-02-05	2005-08-08		ENSG00000123552	ENSG00000123552		"""Ubiquitin-specific peptidases"""	20080	protein-coding gene	gene with protein product			"""ubiquitin specific protease 45"""			12838346	Standard	NM_001080481		Approved	MGC14793	uc003ppx.2	Q70EL2	OTTHUMG00000015267	ENST00000327681.6:c.1420A>G	6.37:g.99894228T>C	ENSP00000333376:p.Ser474Gly					USP45_uc003ppv.2_Intron|USP45_uc003ppw.2_Missense_Mutation_p.S154G	p.S474G	NM_001080481	NP_001073950	Q70EL2	UBP45_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0718)	14	1953	-		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)	474					B2RXG0|Q5T062|Q86T44|Q86TC0|Q9BRU1	Missense_Mutation	SNP	ENST00000327681.6	37	c.1420A>G	CCDS34501.1	.	.	.	.	.	.	.	.	.	.	T	9.030	0.987067	0.18889	.	.	ENSG00000123552	ENST00000392738;ENST00000500704;ENST00000327681;ENST00000369233	T;T;T;T	0.18016	2.24;3.72;3.72;3.71	5.48	-1.23	0.09465	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	2.633230	0.01047	N	0.004418	T	0.03739	0.0106	N	0.25286	0.73	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.36648	-0.9739	10	0.21014	T	0.42	.	9.8672	0.41152	0.0:0.3732:0.0:0.6268	.	474;154	Q70EL2;Q70EL2-3	UBP45_HUMAN;.	G	154;474;474;426	ENSP00000376495:S154G;ENSP00000424372:S474G;ENSP00000333376:S474G;ENSP00000358236:S426G	ENSP00000333376:S474G	S	-	1	0	USP45	100000949	0.000000	0.05858	0.001000	0.08648	0.039000	0.13416	0.037000	0.13840	0.017000	0.15025	0.528000	0.53228	AGC		0.398	USP45-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041609.2	NM_032929		11	105	0	0	0	0	11	105				
SEC63	11231	broad.mit.edu	37	6	108246120	108246120	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:108246120C>T	ENST00000369002.4	-	3	420	c.241G>A	c.(241-243)Gca>Aca	p.A81T		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	81					liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		GCCCATCCTGCAAGCAGAACT	0.348																																						uc003psc.3		NA																	0				ovary(1)|skin(1)	2						c.(241-243)GCA>ACA		SEC63-like protein							124.0	121.0	122.0					6																	108246120		2203	4300	6503	SO:0001583	missense	11231				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	g.chr6:108246120C>T	BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"""Heat shock proteins / DNAJ (HSP40)"""	21082	protein-coding gene	gene with protein product		608648	"""SEC63-like (S. cerevisiae)"""			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.241G>A	6.37:g.108246120C>T	ENSP00000357998:p.Ala81Thr						p.A81T	NM_007214	NP_009145	Q9UGP8	SEC63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)	3	510	-		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)	81			Helical; (Potential).		O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Missense_Mutation	SNP	ENST00000369002.4	37	c.241G>A	CCDS5061.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.375761	0.61735	.	.	ENSG00000025796	ENST00000369002;ENST00000429168	T;T	0.75477	-0.94;-0.11	5.63	5.63	0.86233	.	0.114978	0.64402	D	0.000010	T	0.46983	0.1421	N	0.24115	0.695	0.42066	D	0.991187	B	0.33413	0.411	B	0.27076	0.076	T	0.52495	-0.8568	10	0.33141	T	0.24	-17.5545	15.1859	0.73002	0.0:0.8595:0.1405:0.0	.	81	Q9UGP8	SEC63_HUMAN	T	81;25	ENSP00000357998:A81T;ENSP00000403144:A25T	ENSP00000357998:A81T	A	-	1	0	SEC63	108352813	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.873000	0.56093	2.648000	0.89879	0.585000	0.79938	GCA		0.348	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041705.4	NM_007214		8	124	0	0	0	0	8	124				
NR2E1	7101	broad.mit.edu	37	6	108492787	108492787	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:108492787G>T	ENST00000368986.4	+	2	859	c.151G>T	c.(151-153)Gtc>Ttc	p.V51F	NR2E1_ENST00000368983.3_Missense_Mutation_p.V88F	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	51					aggressive behavior (GO:0002118)|amygdala development (GO:0021764)|anterior commissure morphogenesis (GO:0021960)|behavioral fear response (GO:0001662)|cell fate commitment (GO:0045165)|cerebral cortex neuron differentiation (GO:0021895)|dentate gyrus development (GO:0021542)|extracellular matrix organization (GO:0030198)|forebrain generation of neurons (GO:0021872)|gene expression (GO:0010467)|glial cell migration (GO:0008347)|layer formation in cerebral cortex (GO:0021819)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|olfactory bulb development (GO:0021772)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of stem cell proliferation (GO:2000648)|regulation of cell migration involved in sprouting angiogenesis (GO:0090049)|regulation of dendrite morphogenesis (GO:0048814)|regulation of timing of neuron differentiation (GO:0060164)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		TAGGACCTATGTCTGCAAATC	0.577																																						uc003psg.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(151-153)GTC>TTC		nuclear receptor subfamily 2, group E, member 1							107.0	118.0	114.0					6																	108492787		2203	4300	6503	SO:0001583	missense	7101				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr6:108492787G>T	Y13276	CCDS5063.1, CCDS69165.1	6q21	2013-01-16			ENSG00000112333	ENSG00000112333		"""Nuclear hormone receptors"""	7973	protein-coding gene	gene with protein product		603849		TLX		9628820	Standard	NM_003269		Approved	TLL, XTLL	uc003psg.3	Q9Y466	OTTHUMG00000015319	ENST00000368986.4:c.151G>T	6.37:g.108492787G>T	ENSP00000357982:p.Val51Phe						p.V51F	NM_003269	NP_003260	Q9Y466	NR2E1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)	2	906	+		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)	51			Nuclear receptor.		Q6ZMP8	Missense_Mutation	SNP	ENST00000368986.4	37	c.151G>T	CCDS5063.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.589881	0.86851	.	.	ENSG00000112333	ENST00000368986;ENST00000368983	D;D	0.97303	-4.33;-4.33	5.39	5.39	0.77823	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (3);	0.173456	0.50627	D	0.000106	D	0.97670	0.9236	M	0.70787	2.145	0.80722	D	1	P	0.52170	0.951	D	0.64506	0.926	D	0.96615	0.9455	10	0.24483	T	0.36	.	18.7646	0.91866	0.0:0.0:1.0:0.0	.	51	Q9Y466	NR2E1_HUMAN	F	51;88	ENSP00000357982:V51F;ENSP00000357979:V88F	ENSP00000357979:V88F	V	+	1	0	NR2E1	108599480	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	7.321000	0.79088	2.542000	0.85734	0.561000	0.74099	GTC		0.577	NR2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041712.2			35	259	1	0	3.66e-26	4.06e-26	35	259				
MICAL1	64780	broad.mit.edu	37	6	109765452	109765452	+	Missense_Mutation	SNP	C	C	T	rs368885343		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:109765452C>T	ENST00000358807.3	-	25	3457	c.3146G>A	c.(3145-3147)cGc>cAc	p.R1049H	MICAL1_ENST00000368952.4_Missense_Mutation_p.R1068H|MICAL1_ENST00000358577.3_Missense_Mutation_p.R963H	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	1049					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		CTCCTGGAAGCGGATGAGGGC	0.592																																						uc003ptj.2		NA																	0				breast(2)|ovary(1)	3						c.(3145-3147)CGC>CAC		microtubule associated monoxygenase, calponin		C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	37.0	39.0	38.0		2888,3146	4.4	1.0	6		38	0,8600		0,0,4300	no	missense,missense	MICAL1	NM_001159291.1,NM_022765.3	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	963/982,1049/1068	109765452	1,13005	2203	4300	6503	SO:0001583	missense	64780				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding	g.chr6:109765452C>T	AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"""NEDD9 interacting protein with calponin homology and LIM domains"""	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.3146G>A	6.37:g.109765452C>T	ENSP00000351664:p.Arg1049His					MICAL1_uc003ptk.2_Missense_Mutation_p.R1049H|MICAL1_uc010kdr.2_Missense_Mutation_p.R963H|MICAL1_uc011eaq.1_Missense_Mutation_p.R1068H	p.R1049H	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)	24	3400	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	1049					B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	ENST00000358807.3	37	c.3146G>A	CCDS5076.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.044044	0.55110	2.27E-4	0.0	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000368957;ENST00000335266	T;T;T	0.44881	0.91;0.91;0.91	5.3	4.42	0.53409	Domain of unknown function DUF3585 (1);	0.608855	0.16130	N	0.228239	T	0.35068	0.0919	L	0.37466	1.105	0.25567	N	0.986935	D;D;D	0.89917	0.986;1.0;0.971	P;D;P	0.65773	0.631;0.938;0.643	T	0.16188	-1.0411	10	0.54805	T	0.06	.	9.0731	0.36504	0.0:0.8962:0.0:0.1038	.	1068;963;1049	B7Z3R5;Q8TDZ2-2;Q8TDZ2	.;.;MICA1_HUMAN	H	1049;1068;963;573;305	ENSP00000351664:R1049H;ENSP00000357948:R1068H;ENSP00000351385:R963H	ENSP00000335372:R305H	R	-	2	0	MICAL1	109872145	1.000000	0.71417	1.000000	0.80357	0.616000	0.37450	1.208000	0.32345	1.206000	0.43276	0.462000	0.41574	CGC		0.592	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		10	60	0	0	0	0	10	60				
TSPYL4	23270	broad.mit.edu	37	6	116574172	116574172	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:116574172G>A	ENST00000420283.1	-	1	1089	c.1000C>T	c.(1000-1002)Cga>Tga	p.R334*	DSE_ENST00000540275.1_5'Flank|RP3-486I3.7_ENST00000448740.2_lincRNA	NM_021648.4	NP_067680.3	Q9UJ04	TSYL4_HUMAN	TSPY-like 4	334					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				endometrium(2)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(2)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.045)|OV - Ovarian serous cystadenocarcinoma(136;0.0666)|GBM - Glioblastoma multiforme(226;0.095)|Epithelial(106;0.125)		TCTTGGCCTCGGTGCCAGCGG	0.532																																						uc003pwn.2		NA																	0					0						c.(1000-1002)CGA>TGA		TSPY-like 4							78.0	78.0	78.0					6																	116574172		1935	4156	6091	SO:0001587	stop_gained	23270				nucleosome assembly	nucleus		g.chr6:116574172G>A		CCDS5106.1	6q22.1	2010-05-12			ENSG00000187189	ENSG00000187189			21559	protein-coding gene	gene with protein product							Standard	NM_021648		Approved	dJ486I3.2, KIAA0721	uc003pwn.3	Q9UJ04	OTTHUMG00000015429	ENST00000420283.1:c.1000C>T	6.37:g.116574172G>A	ENSP00000410943:p.Arg334*					DSE_uc011ebf.1_5'Flank|TSPYL4_uc011ebe.1_Nonsense_Mutation_p.R162*|uc003pwo.1_5'Flank	p.R334*	NM_021648	NP_067680	Q9UJ04	TSYL4_HUMAN		all cancers(137;0.045)|OV - Ovarian serous cystadenocarcinoma(136;0.0666)|GBM - Glioblastoma multiforme(226;0.095)|Epithelial(106;0.125)	1	1090	-		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)	334					B4DYQ2|O94828|Q96GW8	Nonsense_Mutation	SNP	ENST00000420283.1	37	c.1000C>T	CCDS5106.1	.	.	.	.	.	.	.	.	.	.	G	35	5.502855	0.96371	.	.	ENSG00000187189	ENST00000420283	.	.	.	3.83	2.01	0.26516	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.5079	8.8433	0.35155	0.0:0.0:0.5918:0.4082	.	.	.	.	X	334	.	ENSP00000410943:R334X	R	-	1	2	TSPYL4	116680865	0.991000	0.36638	0.908000	0.35775	0.959000	0.62525	1.302000	0.33459	0.567000	0.29293	0.462000	0.41574	CGA		0.532	TSPYL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041934.2			7	86	0	0	0	0	7	86				
HBS1L	10767	broad.mit.edu	37	6	135363201	135363201	+	Missense_Mutation	SNP	T	T	C	rs199530029		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:135363201T>C	ENST00000367837.5	-	3	379	c.173A>G	c.(172-174)tAt>tGt	p.Y58C	HBS1L_ENST00000367822.5_Missense_Mutation_p.Y58C|HBS1L_ENST00000445176.2_5'UTR|HBS1L_ENST00000367820.2_Missense_Mutation_p.Y58C|HBS1L_ENST00000367824.4_Intron|HBS1L_ENST00000367826.2_Intron|HBS1L_ENST00000415177.2_Missense_Mutation_p.Y58C|HBS1L_ENST00000525067.1_Intron|HBS1L_ENST00000314674.3_Missense_Mutation_p.Y58C	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase	58					signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		CAGATCTTCATAATCATATTC	0.358																																						uc003qez.2		NA																	0				skin(2)	2						c.(172-174)TAT>TGT		Hsp70 subfamily B suppressor 1-like protein							81.0	79.0	80.0					6																	135363201		2203	4300	6503	SO:0001583	missense	10767				signal transduction		GTP binding|GTPase activity|translation elongation factor activity	g.chr6:135363201T>C	U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"""eRF3 family member"""	612450	"""HBS1 (S. cerevisiae)-like"", ""HBS1-like (S. cerevisiae)"""			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.173A>G	6.37:g.135363201T>C	ENSP00000356811:p.Tyr58Cys					HBS1L_uc011ecy.1_5'UTR|HBS1L_uc011ecz.1_Intron|HBS1L_uc011eda.1_Intron|HBS1L_uc003qfa.2_Missense_Mutation_p.Y58C	p.Y58C	NM_006620	NP_006611	Q9Y450	HBS1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)	3	380	-	Colorectal(23;0.221)		58					B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Missense_Mutation	SNP	ENST00000367837.5	37	c.173A>G	CCDS5173.1	.	.	.	.	.	.	.	.	.	.	T	12.58	1.980549	0.34942	.	.	ENSG00000112339	ENST00000367837;ENST00000415177;ENST00000314674;ENST00000524715;ENST00000529882;ENST00000367822;ENST00000367820	T;T	0.64438	-0.07;-0.1	5.76	3.18	0.36537	Domain of unknown function DUF1916 (2);	1.582040	0.03572	N	0.228813	T	0.47673	0.1458	M	0.66939	2.045	0.80722	D	1	B;B	0.32918	0.39;0.001	B;B	0.34722	0.188;0.002	T	0.54761	-0.8245	10	0.51188	T	0.08	-19.9748	7.3304	0.26580	0.0:0.0719:0.2712:0.6569	.	58;58	Q9Y450-2;Q9Y450	.;HBS1L_HUMAN	C	58;58;58;36;73;58;58	ENSP00000356811:Y58C;ENSP00000389826:Y58C	ENSP00000323566:Y58C	Y	-	2	0	HBS1L	135404894	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.123000	0.41996	0.969000	0.38237	0.459000	0.35465	TAT		0.358	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042339.2			6	86	0	0	0	0	6	86				
MAP3K5	4217	broad.mit.edu	37	6	136913701	136913701	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:136913701C>G	ENST00000359015.4	-	22	3290	c.2930G>C	c.(2929-2931)aGc>aCc	p.S977T	MAP3K5_ENST00000355845.4_Missense_Mutation_p.S224T	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	977					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)	p.S977I(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		ACTGCTGCTGCTGGTGTCCTC	0.478																																						uc003qhc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|lung(1)	5						c.(2929-2931)AGC>ACC		mitogen-activated protein kinase kinase kinase							68.0	66.0	67.0					6																	136913701		2203	4300	6503	SO:0001583	missense	4217				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	g.chr6:136913701C>G	U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.2930G>C	6.37:g.136913701C>G	ENSP00000351908:p.Ser977Thr					MAP3K5_uc011edj.1_Missense_Mutation_p.S224T|MAP3K5_uc011edk.1_Missense_Mutation_p.S823T	p.S977T	NM_005923	NP_005914	Q99683	M3K5_HUMAN		GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)	22	3291	-	Colorectal(23;0.24)		977					A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	ENST00000359015.4	37	c.2930G>C	CCDS5179.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.293859	0.60086	.	.	ENSG00000197442	ENST00000359015;ENST00000355845;ENST00000367768	T;T	0.71817	-0.45;-0.6	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.61726	0.2370	N	0.08118	0	0.80722	D	1	B;D	0.58268	0.017;0.982	B;D	0.67548	0.015;0.952	T	0.61392	-0.7072	10	0.17369	T	0.5	.	20.4062	0.99009	0.0:1.0:0.0:0.0	.	1057;977	Q59GL6;Q99683	.;M3K5_HUMAN	T	977;224;1057	ENSP00000351908:S977T;ENSP00000348104:S224T	ENSP00000348104:S224T	S	-	2	0	MAP3K5	136955394	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.487000	0.81328	2.831000	0.97527	0.655000	0.94253	AGC		0.478	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1			8	132	0	0	0	0	8	132				
KIAA1244	57221	broad.mit.edu	37	6	138615205	138615205	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:138615205G>A	ENST00000251691.4	+	20	3610	c.3444G>A	c.(3442-3444)tcG>tcA	p.S1148S		NM_020340.4	NP_065073.3			KIAA1244									p.S1077S(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AGAAAGCATCGCAGTCTCAGC	0.433																																						uc003qhu.2		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(1)|skin(1)	2						c.(3442-3444)TCG>TCA		brefeldin A-inhibited guanine							141.0	127.0	132.0					6																	138615205		2203	4300	6503	SO:0001819	synonymous_variant	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138615205G>A	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.3444G>A	6.37:g.138615205G>A							p.S1148S	NM_020340	NP_065073	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	20	3444	+	Breast(32;0.135)		1148						Silent	SNP	ENST00000251691.4	37	c.3444G>A	CCDS5189.2																																																																																				0.433	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		12	111	0	0	0	0	12	111				
SASH1	23328	broad.mit.edu	37	6	148855055	148855055	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:148855055G>A	ENST00000367467.3	+	15	2358	c.1883G>A	c.(1882-1884)cGg>cAg	p.R628Q		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	628					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		AGGAGGCGTCGGAAAGGACGA	0.537																																						uc003qme.1		NA																	0				central_nervous_system(1)	1						c.(1882-1884)CGG>CAG		SAM and SH3 domain containing 1							86.0	80.0	82.0					6																	148855055		2203	4300	6503	SO:0001583	missense	23328						protein binding	g.chr6:148855055G>A	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.1883G>A	6.37:g.148855055G>A	ENSP00000356437:p.Arg628Gln					SASH1_uc011eeb.1_Missense_Mutation_p.R389Q|SASH1_uc003qmf.1_Missense_Mutation_p.R38Q	p.R628Q	NM_015278	NP_056093	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	15	2358	+		Ovarian(120;0.0169)	628					Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	37	c.1883G>A	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.016519	0.35606	.	.	ENSG00000111961	ENST00000367467;ENST00000535767;ENST00000537769	T	0.29142	1.58	5.36	3.53	0.40419	Src homology-3 domain (1);Sterile alpha motif/pointed domain (1);	0.174167	0.64402	D	0.000008	T	0.11239	0.0274	L	0.49350	1.555	0.25298	N	0.989302	P;P	0.39782	0.525;0.688	B;B	0.28139	0.086;0.086	T	0.05338	-1.0891	10	0.59425	D	0.04	-16.6688	11.9523	0.52962	0.1432:0.0:0.8568:0.0	.	609;628	Q6P4R9;O94885	.;SASH1_HUMAN	Q	628;389;38	ENSP00000356437:R628Q	ENSP00000356437:R628Q	R	+	2	0	SASH1	148896748	1.000000	0.71417	0.843000	0.33291	0.042000	0.13812	4.554000	0.60760	1.346000	0.45694	0.655000	0.94253	CGG		0.537	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		18	150	0	0	0	0	18	150				
SYNE1	23345	broad.mit.edu	37	6	152826378	152826378	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:152826378C>T	ENST00000367255.5	-	9	1337	c.736G>A	c.(736-738)Gcc>Acc	p.A246T	SYNE1_ENST00000423061.1_Missense_Mutation_p.A253T|SYNE1_ENST00000367248.3_Missense_Mutation_p.A253T|SYNE1_ENST00000341594.5_Missense_Mutation_p.A246T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A246T|SYNE1_ENST00000367253.4_Missense_Mutation_p.A246T|SYNE1_ENST00000466159.2_Missense_Mutation_p.A246T|SYNE1_ENST00000448038.1_Missense_Mutation_p.A253T|SYNE1_ENST00000413186.2_Missense_Mutation_p.A246T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	246	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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)	p.A246T(2)		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)		TCTGTTTCGGCGATAGTGAAA	0.433										HNSCC(10;0.0054)																												uc010kiw.2		NA																	2	Substitution - Missense(2)		central_nervous_system(2)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(736-738)GCC>ACC		spectrin repeat containing, nuclear envelope 1							144.0	131.0	135.0					6																	152826378		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152826378C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.736G>A	6.37:g.152826378C>T	ENSP00000356224:p.Ala246Thr	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.A253T|SYNE1_uc003qou.3_Missense_Mutation_p.A246T|SYNE1_uc010kjb.1_Missense_Mutation_p.A246T|SYNE1_uc003qpa.1_Missense_Mutation_p.A246T	p.A246T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	9	1338	-		Ovarian(120;0.0955)	246			Actin-binding.|CH 2.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.736G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	22.2	4.261172	0.80246	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000466159;ENST00000537750	D;D;D;D;D;D;D;D;D;D	0.98807	-5.15;-5.15;-5.15;-5.15;-5.15;-5.15;-5.15;-5.15;-5.15;-5.15	5.74	5.74	0.90152	Calponin homology domain (5);	0.096943	0.45126	D	0.000382	D	0.99609	0.9858	H	0.98786	4.33	0.80722	D	1	P;P;D;P;D	0.89917	0.797;0.689;0.97;0.689;1.0	P;B;P;B;D	0.74674	0.529;0.367;0.642;0.367;0.984	D	0.97940	1.0325	10	0.54805	T	0.06	.	19.994	0.97377	0.0:1.0:0.0:0.0	.	246;246;246;246;253	B3W695;Q8NF91;F5H4Q0;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	T	246;253;246;253;246;246;253;246;246;246	ENSP00000356224:A246T;ENSP00000396024:A253T;ENSP00000265368:A246T;ENSP00000390975:A253T;ENSP00000341887:A246T;ENSP00000356222:A246T;ENSP00000356217:A253T;ENSP00000414510:A246T;ENSP00000446021:A246T;ENSP00000441264:A246T	ENSP00000265368:A246T	A	-	1	0	SYNE1	152868071	1.000000	0.71417	0.530000	0.27963	0.026000	0.11368	7.818000	0.86416	2.735000	0.93741	0.638000	0.83543	GCC		0.433	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		8	101	0	0	0	0	8	101				
TAGAP	117289	broad.mit.edu	37	6	159462434	159462434	+	Silent	SNP	C	C	T	rs373228267		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:159462434C>T	ENST00000367066.3	-	6	760	c.429G>A	c.(427-429)gcG>gcA	p.A143A	TAGAP_ENST00000338313.5_Silent_p.A143A|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|TAGAP_ENST00000326965.6_5'UTR|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	143	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CCAGATCCACCGCATCCCCAG	0.552																																						uc003qrz.2		NA																	0				ovary(1)	1						c.(427-429)GCG>GCA		T-cell activation Rho GTPase-activating protein							101.0	89.0	93.0					6																	159462434		2203	4300	6503	SO:0001819	synonymous_variant	117289				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr6:159462434C>T	AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691		"""Rho GTPase activating proteins"""	15669	protein-coding gene	gene with protein product		609667	"""T-cell activation GTPase activating protein"""			16375659, 18311140, 18356936	Standard	NM_152133		Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.429G>A	6.37:g.159462434C>T						TAGAP_uc011eft.1_Silent_p.A80A|TAGAP_uc003qsa.2_5'UTR|TAGAP_uc003qsb.2_Silent_p.A143A|uc003qsc.2_5'Flank	p.A143A	NM_054114	NP_473455	Q8N103	TAGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	6	761	-		Breast(66;0.000776)|Ovarian(120;0.0303)	143			Rho-GAP.		Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Silent	SNP	ENST00000367066.3	37	c.429G>A	CCDS5261.1																																																																																				0.552	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042890.1	NM_054114		8	135	0	0	0	0	8	135				
IGF2R	3482	broad.mit.edu	37	6	160468852	160468852	+	Missense_Mutation	SNP	G	G	A	rs141234361		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:160468852G>A	ENST00000356956.1	+	17	2406	c.2258G>A	c.(2257-2259)cGg>cAg	p.R753Q		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	753					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	TACAACTTCCGGTGGTACACC	0.552																																						uc003qta.2		NA																	0				ovary(3)	3						c.(2257-2259)CGG>CAG		insulin-like growth factor 2 receptor precursor		G	GLN/ARG	0,4406		0,0,2203	109.0	98.0	102.0		2258	5.1	1.0	6	dbSNP_134	102	2,8598	2.2+/-6.3	0,2,4298	no	missense	IGF2R	NM_000876.2	43	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	753/2492	160468852	2,13004	2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160468852G>A	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.2258G>A	6.37:g.160468852G>A	ENSP00000349437:p.Arg753Gln						p.R753Q	NM_000876	NP_000867	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	17	2406	+		Breast(66;0.000777)|Ovarian(120;0.0305)	753			5.|Lumenal (Potential).		Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.2258G>A	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460904	0.84317	0.0	2.33E-4	ENSG00000197081	ENST00000356956	T	0.02067	4.47	5.14	5.14	0.70334	Mannose-6-phosphate receptor, binding (1);	0.225102	0.42420	D	0.000716	T	0.02494	0.0076	L	0.52011	1.625	0.36332	D	0.8589	D	0.71674	0.998	P	0.54140	0.743	T	0.52852	-0.8520	10	0.45353	T	0.12	-11.437	8.8209	0.35025	0.2101:0.0:0.7899:0.0	.	753	P11717	MPRI_HUMAN	Q	753	ENSP00000349437:R753Q	ENSP00000349437:R753Q	R	+	2	0	IGF2R	160388842	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.874000	0.39568	2.407000	0.81776	0.561000	0.74099	CGG		0.552	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		11	162	0	0	0	0	11	162				
SUN1	23353	broad.mit.edu	37	7	899771	899771	+	Missense_Mutation	SNP	G	G	A	rs369117433	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:899771G>A	ENST00000405266.1	+	15	1666	c.1642G>A	c.(1642-1644)Gtg>Atg	p.V548M	SUN1_ENST00000456758.2_Missense_Mutation_p.V700M|SUN1_ENST00000452783.2_Missense_Mutation_p.V408M|SUN1_ENST00000413514.2_Missense_Mutation_p.V309M|SUN1_ENST00000389574.3_Missense_Mutation_p.V428M|SUN1_ENST00000425407.2_Missense_Mutation_p.V428M|SUN1_ENST00000401592.1_Missense_Mutation_p.V511M			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	538					cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)				NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTAGGTGGACGTGCAAGTCAG	0.433													G|||	3	0.000599042	0.0023	0.0	5008	,	,		20851	0.0		0.0	False		,,,				2504	0.0					uc011jvp.1		NA																	0					0						c.(1531-1533)GTG>ATG		unc-84 homolog A isoform a		G	MET/VAL,MET/VAL,MET/VAL	0,3870		0,0,1935	58.0	59.0	58.0		1531,1222,1282	-0.1	0.0	7		58	1,8263		0,1,4131	no	missense,missense,missense	SUN1	NM_001130965.2,NM_001171944.1,NM_025154.5	21,21,21	0,1,6066	AA,AG,GG		0.0121,0.0,0.0082	benign,benign,benign	511/786,408/683,428/703	899771	1,12133	1935	4132	6067	SO:0001583	missense	23353				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding	g.chr7:899771G>A	AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"""Sad1 unc-84 domain protein 1"""	607723	"""unc-84 homolog A (C. elegans)"""	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000405266.1:c.1642G>A	7.37:g.899771G>A	ENSP00000384116:p.Val548Met					GET4_uc003sjj.1_RNA|SUN1_uc003sjf.2_Missense_Mutation_p.V428M|SUN1_uc011jvq.1_Missense_Mutation_p.V408M|SUN1_uc003sjg.2_Missense_Mutation_p.V416M|SUN1_uc011jvr.1_Missense_Mutation_p.V309M|SUN1_uc003sji.2_Missense_Mutation_p.V349M|SUN1_uc003sjk.2_Missense_Mutation_p.V150M	p.V511M	NM_001130965	NP_001124437	O94901	SUN1_HUMAN			15	1610	+			538			Perinuclear space.		A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Missense_Mutation	SNP	ENST00000405266.1	37	c.1531G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.92|10.92	1.486850|1.486850	0.26686|0.26686	0.0|0.0	1.21E-4|1.21E-4	ENSG00000164828|ENSG00000164828	ENST00000433212|ENST00000456758;ENST00000389574;ENST00000452783;ENST00000405266;ENST00000401592;ENST00000297445;ENST00000425407;ENST00000429178;ENST00000413514	.|T;T;T;T;T;T;T;T	.|0.30981	.|1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51	5.4|5.4	-0.0823|-0.0823	0.13698|0.13698	.|.	.|0.835810	.|0.11187	.|N	.|0.590283	T|T	0.23330|0.23330	0.0564|0.0564	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	0.999999|0.999999	.|D;D;D;D;D;D	.|0.67145	.|0.981;0.981;0.994;0.993;0.994;0.996	.|P;P;P;P;B;P	.|0.57101	.|0.508;0.508;0.655;0.508;0.439;0.813	T|T	0.12915|0.12915	-1.0529|-1.0529	5|10	.|0.52906	.|T	.|0.07	-13.5494|-13.5494	4.9988|4.9988	0.14253|0.14253	0.3351:0.0:0.528:0.1368|0.3351:0.0:0.528:0.1368	.|.	.|309;408;511;700;538;428	.|E7EP45;E9PDU4;E9PF23;A4D2Q0;O94901;O94901-5	.|.;.;.;.;SUN1_HUMAN;.	H|M	359|700;428;408;548;511;538;428;436;309	.|ENSP00000388743:V700M;ENSP00000374225:V428M;ENSP00000413439:V408M;ENSP00000384116:V548M;ENSP00000384015:V511M;ENSP00000392309:V428M;ENSP00000409909:V436M;ENSP00000389313:V309M	.|ENSP00000297445:V538M	R|V	+|+	2|1	0|0	SUN1|SUN1	866297|866297	0.711000|0.711000	0.27906|0.27906	0.010000|0.010000	0.14722|0.14722	0.241000|0.241000	0.25554|0.25554	1.375000|1.375000	0.34295|0.34295	0.288000|0.288000	0.22398|0.22398	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.433	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000322566.1	NM_025154		5	82	0	0	0	0	5	82				
RAC1	5879	broad.mit.edu	37	7	6441974	6441974	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:6441974C>T	ENST00000348035.4	+	6	689	c.476C>T	c.(475-477)gCg>gTg	p.A159V	RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.A178V	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	159					actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|anatomical structure arrangement (GO:0048532)|anatomical structure morphogenesis (GO:0009653)|apoptotic signaling pathway (GO:0097190)|auditory receptor cell morphogenesis (GO:0002093)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|cell adhesion (GO:0007155)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|cerebral cortex radially oriented cell migration (GO:0021799)|cochlea morphogenesis (GO:0090103)|dendrite morphogenesis (GO:0048813)|dopaminergic neuron differentiation (GO:0071542)|embryonic olfactory bulb interneuron precursor migration (GO:0021831)|engulfment of apoptotic cell (GO:0043652)|epithelial cell morphogenesis (GO:0003382)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor signaling pathway (GO:0007186)|hyperosmotic response (GO:0006972)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|mast cell chemotaxis (GO:0002551)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of receptor-mediated endocytosis (GO:0048261)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA replication (GO:0045740)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein localization to plasma membrane (GO:0072659)|regulation of cell migration (GO:0030334)|regulation of defense response to virus by virus (GO:0050690)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|response to wounding (GO:0009611)|ruffle assembly (GO:0097178)|ruffle organization (GO:0031529)|semaphorin-plexin signaling pathway (GO:0071526)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell costimulation (GO:0031295)|viral process (GO:0016032)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GDP-dissociation inhibitor binding (GO:0051022)|thioesterase binding (GO:0031996)	p.A159V(1)|p.A178V(1)		cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Dextromethorphan(DB00514)	GAGTGCTCGGCGCTCACACAG	0.567																																						uc003spx.2		NA																	2	Substitution - Missense(2)		endometrium(2)	lung(2)	2						c.(475-477)GCG>GTG		ras-related C3 botulinum toxin substrate 1	Pravastatin(DB00175)|Simvastatin(DB00641)						133.0	110.0	118.0					7																	6441974		2203	4300	6503	SO:0001583	missense	5879				actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	g.chr7:6441974C>T	AJ132695	CCDS5348.1, CCDS5349.1	7p22	2014-01-30			ENSG00000136238	ENSG00000136238		"""Endogenous ligands"""	9801	protein-coding gene	gene with protein product		602048				2674130, 10597294	Standard	NM_006908		Approved	TC-25, p21-Rac1, Rac-1	uc003spw.3	P63000	OTTHUMG00000023540	ENST00000348035.4:c.476C>T	7.37:g.6441974C>T	ENSP00000258737:p.Ala159Val					RAC1_uc003spw.2_Missense_Mutation_p.A178V	p.A159V	NM_006908	NP_008839	P63000	RAC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	6	717	+		Ovarian(82;0.0776)	159					O95501|P15154|Q3Y4D3|Q5JAA8|Q9BTB4	Missense_Mutation	SNP	ENST00000348035.4	37	c.476C>T	CCDS5348.1	.	.	.	.	.	.	.	.	.	.	.	36	5.951588	0.97139	.	.	ENSG00000136238	ENST00000348035;ENST00000356142	D;D	0.88818	-2.43;-2.43	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	D	0.96470	0.8848	H	0.94808	3.585	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.75484	0.965;0.986	D	0.96554	0.9410	10	0.87932	D	0	.	20.731	0.99711	0.0:1.0:0.0:0.0	.	159;178	P63000;A4D2P0	RAC1_HUMAN;.	V	159;178	ENSP00000258737:A159V;ENSP00000348461:A178V	ENSP00000258737:A159V	A	+	2	0	RAC1	6408499	1.000000	0.71417	0.391000	0.26233	0.929000	0.56500	7.715000	0.84713	2.907000	0.99374	0.609000	0.83330	GCG		0.567	RAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242868.2	NM_018890		10	89	0	0	0	0	10	89				
GLCCI1	113263	broad.mit.edu	37	7	8110704	8110704	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:8110704G>A	ENST00000223145.5	+	6	1677	c.1120G>A	c.(1120-1122)Gaa>Aaa	p.E374K		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	374						cytoplasm (GO:0005737)				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		TTGTCCCCCGGAATCCCAGGA	0.498																																						uc003srk.2		NA																	0					0						c.(1120-1122)GAA>AAA		glucocorticoid induced transcript 1							142.0	132.0	135.0					7																	8110704		2203	4300	6503	SO:0001583	missense	113263							g.chr7:8110704G>A	BC050291	CCDS34601.1	7p22.2	2008-08-18			ENSG00000106415	ENSG00000106415			18713	protein-coding gene	gene with protein product		614283					Standard	NM_138426		Approved	GIG18, FAM117C, TSSN1	uc003srk.4	Q86VQ1	OTTHUMG00000151984	ENST00000223145.5:c.1120G>A	7.37:g.8110704G>A	ENSP00000223145:p.Glu374Lys						p.E374K	NM_138426	NP_612435	Q86VQ1	GLCI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)	6	1679	+		Ovarian(82;0.0608)	374					A4D103|Q96FD0	Missense_Mutation	SNP	ENST00000223145.5	37	c.1120G>A	CCDS34601.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469209	0.63625	.	.	ENSG00000106415	ENST00000223145	.	.	.	4.48	4.48	0.54585	.	0.217580	0.47455	D	0.000235	T	0.51907	0.1702	L	0.39898	1.24	0.39440	D	0.967228	B	0.33171	0.4	B	0.33960	0.173	T	0.56577	-0.7956	9	0.45353	T	0.12	-9.0066	18.4808	0.90811	0.0:0.0:1.0:0.0	.	374	Q86VQ1	GLCI1_HUMAN	K	374	.	ENSP00000223145:E374K	E	+	1	0	GLCCI1	8077229	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.270000	0.65547	2.765000	0.95021	0.650000	0.86243	GAA		0.498	GLCCI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324672.1	NM_138426		15	272	0	0	0	0	15	272				
CDCA7L	55536	broad.mit.edu	37	7	21946011	21946011	+	Missense_Mutation	SNP	G	G	A	rs139249411		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:21946011G>A	ENST00000406877.3	-	6	1096	c.817C>T	c.(817-819)Cgg>Tgg	p.R273W	CDCA7L_ENST00000356195.5_Missense_Mutation_p.R239W|CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000373934.4_Missense_Mutation_p.R227W	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	273					positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						CGCGCACTCCGGGTTGGGTTC	0.527																																						uc010kuk.2		NA																	0					0						c.(817-819)CGG>TGG		cell division cycle associated 7-like isoform 1		G	TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	94.0	105.0	102.0		715,679,817	5.8	1.0	7	dbSNP_134	102	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	CDCA7L	NM_001127370.2,NM_001127371.2,NM_018719.4	101,101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	239/421,227/409,273/455	21946011	1,13005	2203	4300	6503	SO:0001583	missense	55536				positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus		g.chr7:21946011G>A		CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429	ENST00000406877.3:c.817C>T	7.37:g.21946011G>A	ENSP00000383986:p.Arg273Trp					CDCA7L_uc003sve.3_Missense_Mutation_p.R239W|CDCA7L_uc010kul.2_Missense_Mutation_p.R227W|CDCA7L_uc003svf.3_Missense_Mutation_p.R272W	p.R273W	NM_018719	NP_061189	Q96GN5	CDA7L_HUMAN			6	937	-			273					A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Missense_Mutation	SNP	ENST00000406877.3	37	c.817C>T	CCDS5374.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.572378	0.65765	0.0	1.16E-4	ENSG00000164649	ENST00000356195;ENST00000406877;ENST00000373934	T;T;T	0.61980	0.11;0.08;0.06	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.79924	0.4530	M	0.83953	2.67	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.82108	-0.0620	10	0.87932	D	0	.	13.0581	0.58992	0.0:0.0:0.7343:0.2657	.	227;273;272	C9K0Y1;Q96GN5;Q96GN5-2	.;CDA7L_HUMAN;.	W	239;273;227	ENSP00000348523:R239W;ENSP00000383986:R273W;ENSP00000363045:R227W	ENSP00000348523:R239W	R	-	1	2	CDCA7L	21912536	1.000000	0.71417	0.990000	0.47175	0.325000	0.28411	3.755000	0.55197	2.767000	0.95098	0.655000	0.94253	CGG		0.527	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250218.4	NM_018719		23	275	0	0	0	0	23	275				
NPY	4852	broad.mit.edu	37	7	24324938	24324938	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:24324938G>A	ENST00000407573.1	+	3	369	c.79G>A	c.(79-81)Gag>Aag	p.E27K	NPY_ENST00000242152.2_Missense_Mutation_p.E27K|NPY_ENST00000405982.1_Missense_Mutation_p.E27K			P01303	NPY_HUMAN	neuropeptide Y	27					adult feeding behavior (GO:0008343)|behavior (GO:0007610)|blood circulation (GO:0008015)|calcium ion transport (GO:0006816)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of appetite (GO:0032100)|regulation of blood pressure (GO:0008217)|synaptic transmission (GO:0007268)	cell (GO:0005623)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						TGCGCTGGCCGAGGCGTACCC	0.642																																						uc003sww.1		NA																	0					0						c.(79-81)GAG>AAG		neuropeptide Y precursor							83.0	66.0	72.0					7																	24324938		2203	4299	6502	SO:0001583	missense	4852				adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity	g.chr7:24324938G>A	K01911	CCDS5387.1	7p15.3	2013-02-26			ENSG00000122585	ENSG00000122585		"""Endogenous ligands"""	7955	protein-coding gene	gene with protein product	"""prepro-neuropeptide Y"""	162640					Standard	NM_000905		Approved	PYY4	uc003sww.2	P01303	OTTHUMG00000022973	ENST00000407573.1:c.79G>A	7.37:g.24324938G>A	ENSP00000384364:p.Glu27Lys						p.E27K	NM_000905	NP_000896	P01303	NPY_HUMAN			2	165	+			27						Missense_Mutation	SNP	ENST00000407573.1	37	c.79G>A	CCDS5387.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.825056	0.90955	.	.	ENSG00000122585	ENST00000242152;ENST00000407573;ENST00000405982	T;T;T	0.12774	2.65;2.65;2.65	5.57	5.57	0.84162	.	0.045258	0.85682	D	0.000000	T	0.14570	0.0352	.	.	.	0.80722	D	1	P	0.36065	0.535	B	0.29077	0.098	T	0.02009	-1.1230	9	0.56958	D	0.05	-12.5695	19.542	0.95278	0.0:0.0:1.0:0.0	.	27	P01303	NPY_HUMAN	K	27	ENSP00000242152:E27K;ENSP00000384364:E27K;ENSP00000385282:E27K	ENSP00000242152:E27K	E	+	1	0	NPY	24291463	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.963000	0.87922	2.622000	0.88805	0.655000	0.94253	GAG		0.642	NPY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326748.1	NM_000905		8	86	0	0	0	0	8	86				
DFNA5	1687	broad.mit.edu	37	7	24789321	24789321	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:24789321G>C	ENST00000342947.3	-	2	498	c.73C>G	c.(73-75)Ctg>Gtg	p.L25V	DFNA5_ENST00000545231.1_De_novo_Start_OutOfFrame|DFNA5_ENST00000409775.3_Missense_Mutation_p.L25V|DFNA5_ENST00000409970.1_Intron|DFNA5_ENST00000419307.1_Intron	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	25					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						GAGTCATTCAGATTTGATACT	0.403																																					GBM(78;184 1250 20134 20900 23600)	uc010kus.1		NA																	0				ovary(1)	1						c.(73-75)CTG>GTG		deafness, autosomal dominant 5 protein isoform							158.0	165.0	163.0					7																	24789321		2203	4300	6503	SO:0001583	missense	1687				sensory perception of sound			g.chr7:24789321G>C	AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.73C>G	7.37:g.24789321G>C	ENSP00000339587:p.Leu25Val					DFNA5_uc003swz.2_Intron|DFNA5_uc003sxa.1_Missense_Mutation_p.L25V|DFNA5_uc010kut.1_Intron|DFNA5_uc003sxb.2_Missense_Mutation_p.L25V|DFNA5_uc003sxc.2_Missense_Mutation_p.L25V	p.L25V	NM_001127453	NP_001120925	O60443	DFNA5_HUMAN			2	161	-			25					A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Missense_Mutation	SNP	ENST00000342947.3	37	c.73C>G	CCDS5389.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.257888	0.59321	.	.	ENSG00000105928	ENST00000342947;ENST00000409775	T;T	0.59224	0.28;0.28	5.54	-0.245	0.13027	.	0.137894	0.50627	D	0.000117	T	0.71651	0.3365	M	0.81497	2.545	0.80722	D	1	D;D	0.56968	0.978;0.978	P;D	0.68765	0.86;0.96	T	0.72924	-0.4144	10	0.72032	D	0.01	-13.3601	10.689	0.45860	0.5576:0.0:0.4424:0.0	.	25;25	A4FTY0;O60443	.;DFNA5_HUMAN	V	25	ENSP00000339587:L25V;ENSP00000386670:L25V	ENSP00000339587:L25V	L	-	1	2	DFNA5	24755846	0.467000	0.25831	0.970000	0.41538	0.993000	0.82548	0.500000	0.22562	0.080000	0.16959	-0.290000	0.09829	CTG		0.403	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214060.2	NM_004403		27	277	0	0	0	0	27	277				
C7orf31	136895	broad.mit.edu	37	7	25176366	25176366	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:25176366C>T	ENST00000409280.1	-	10	1306	c.998G>A	c.(997-999)gGa>gAa	p.G333E	C7orf31_ENST00000283905.3_Missense_Mutation_p.G333E			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	333										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						GGCAATTCGTCCTTCCAACGG	0.433																																						uc003sxn.1		NA																	0					0						c.(997-999)GGA>GAA		hypothetical protein LOC136895							111.0	114.0	113.0					7																	25176366		2203	4299	6502	SO:0001583	missense	136895							g.chr7:25176366C>T	AK097248	CCDS5394.1	7p15.2	2011-11-24			ENSG00000153790	ENSG00000153790			21722	protein-coding gene	gene with protein product							Standard	NM_138811		Approved		uc003sxn.1	Q8N865	OTTHUMG00000128497	ENST00000409280.1:c.998G>A	7.37:g.25176366C>T	ENSP00000386604:p.Gly333Glu					C7orf31_uc003sxm.1_Missense_Mutation_p.G175E	p.G333E	NM_138811	NP_620166	Q8N865	CG031_HUMAN			10	1559	-			333					A4D165|Q6MZV8|Q6P989|Q7LE28|Q86XK1|Q8N1H5|Q96BN4	Missense_Mutation	SNP	ENST00000409280.1	37	c.998G>A	CCDS5394.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.612218	0.66672	.	.	ENSG00000153790	ENST00000409280;ENST00000283905	T;T	0.29655	1.56;1.56	5.84	5.84	0.93424	.	0.155509	0.45606	D	0.000346	T	0.57330	0.2046	M	0.72894	2.215	0.42527	D	0.993027	D	0.89917	1.0	D	0.97110	1.0	T	0.58808	-0.7571	10	0.87932	D	0	-34.9631	17.9264	0.88985	0.0:1.0:0.0:0.0	.	333	Q8N865	CG031_HUMAN	E	333	ENSP00000386604:G333E;ENSP00000283905:G333E	ENSP00000283905:G333E	G	-	2	0	C7orf31	25142891	1.000000	0.71417	1.000000	0.80357	0.442000	0.32017	5.010000	0.64004	2.758000	0.94735	0.655000	0.94253	GGA		0.433	C7orf31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326929.1	NM_138811		42	307	0	0	0	0	42	307				
PLEKHA8	84725	broad.mit.edu	37	7	30094365	30094365	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:30094365G>A	ENST00000449726.1	+	8	1187	c.837G>A	c.(835-837)ctG>ctA	p.L279L	PLEKHA8_ENST00000258679.7_Silent_p.L279L|PLEKHA8_ENST00000396257.2_Silent_p.L279L|PLEKHA8_ENST00000396259.1_Silent_p.L279L	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	279					ER to Golgi ceramide transport (GO:0035621)|lipid transport (GO:0006869)|protein transport (GO:0015031)	membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ceramide binding (GO:0097001)|glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)|phosphatidylinositol-4-phosphate binding (GO:0070273)			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						TGGAAAACCTGAAAAATCATG	0.343																																						uc003tam.1		NA																	0				breast(3)|ovary(1)	4						c.(835-837)CTG>CTA		pleckstrin homology domain containing, family A							133.0	129.0	131.0					7																	30094365		2203	4300	6503	SO:0001819	synonymous_variant	84725				protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity	g.chr7:30094365G>A	BC053990	CCDS5424.1, CCDS56473.1, CCDS75574.1	7p21-p11.2	2013-01-10			ENSG00000106086	ENSG00000106086		"""Pleckstrin homology (PH) domain containing"""	30037	protein-coding gene	gene with protein product		608639				11001876	Standard	NM_001197027		Approved	FAPP2, MGC3358	uc003taq.3	Q96JA3	OTTHUMG00000097751	ENST00000449726.1:c.837G>A	7.37:g.30094365G>A						PLEKHA8_uc003tao.2_Silent_p.L163L|PLEKHA8_uc003tap.1_Silent_p.L279L|PLEKHA8_uc003tan.2_Silent_p.L279L	p.L279L	NM_032639	NP_116028	Q96JA3	PKHA8_HUMAN			8	928	+			279					B4DH00|Q7Z5V8|Q9BU78|Q9H274|Q9H8Z7	Silent	SNP	ENST00000449726.1	37	c.837G>A	CCDS56473.1																																																																																				0.343	PLEKHA8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032639		14	145	0	0	0	0	14	145				
NOD1	10392	broad.mit.edu	37	7	30485798	30485798	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:30485798G>A	ENST00000222823.4	-	9	2937	c.2412C>T	c.(2410-2412)ctC>ctT	p.L804L		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	804					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)	p.L804L(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CAGCCAGGGCGAGATACTTCC	0.527																																						uc003tav.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(2410-2412)CTC>CTT		nucleotide-binding oligomerization domain							361.0	289.0	313.0					7																	30485798		2203	4300	6503	SO:0001819	synonymous_variant	10392				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	g.chr7:30485798G>A	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"""Nucleotide-binding domain and leucine rich repeat containing"""	16390	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1"", ""NLR family, CARD domain containing 1"""	605980	"""caspase recruitment domain family, member 4"""	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.2412C>T	7.37:g.30485798G>A							p.L804L	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN			9	2935	-			804			LRR 5.		B4DTU3|Q549U4|Q8IWF5	Silent	SNP	ENST00000222823.4	37	c.2412C>T	CCDS5427.1																																																																																				0.527	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			17	217	0	0	0	0	17	217				
NPSR1	387129	broad.mit.edu	37	7	34724286	34724286	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:34724286G>A	ENST00000360581.1	+	2	398	c.270G>A	c.(268-270)ctG>ctA	p.L90L	NPSR1_ENST00000465305.1_Silent_p.L90L|NPSR1_ENST00000381553.3_Silent_p.L90L|NPSR1-AS1_ENST00000419766.1_RNA|NPSR1_ENST00000359791.1_Silent_p.L90L|NPSR1_ENST00000381542.1_Silent_p.L90L|NPSR1_ENST00000531252.1_Silent_p.L90L|NPSR1_ENST00000381539.3_Silent_p.L90L	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	90						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|vasopressin receptor activity (GO:0005000)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TGACTCAGCTGGCCATCACAG	0.393																																						uc003teg.1		NA																	0				skin(3)|pancreas(1)	4						c.(268-270)CTG>CTA		G protein-coupled receptor for asthma	Halothane(DB01159)						110.0	104.0	106.0					7																	34724286		2203	4300	6503	SO:0001819	synonymous_variant	387129					cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	g.chr7:34724286G>A	AY255536	CCDS5443.1, CCDS5444.1, CCDS75579.1, CCDS75580.1, CCDS75581.1	7p14.3	2012-08-08	2006-05-10	2006-05-10	ENSG00000187258	ENSG00000187258		"""GPCR / Class A : Neuropeptide receptors : S"""	23631	protein-coding gene	gene with protein product		608595	"""G protein-coupled receptor 154"""	GPR154		12679517, 15073379	Standard	NM_207173		Approved	PGR14, GPRA	uc003tei.1	Q6W5P4	OTTHUMG00000099383	ENST00000360581.1:c.270G>A	7.37:g.34724286G>A						AAA1_uc010kwo.1_Intron|AAA1_uc010kwp.1_Intron|AAA1_uc003tdz.2_Intron|AAA1_uc010kwq.1_Intron|AAA1_uc003teb.1_Intron|AAA1_uc011kaq.1_Intron|NPSR1_uc003teh.1_Silent_p.L90L|NPSR1_uc010kwt.1_5'UTR|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Silent_p.L90L|NPSR1_uc003tei.1_Silent_p.L90L|NPSR1_uc010kww.1_Silent_p.L90L|NPSR1_uc011kar.1_Silent_p.L90L	p.L90L	NM_207172	NP_997055	Q6W5P4	NPSR1_HUMAN			2	398	+			90			Helical; Name=2; (Potential).		A2RTZ4|Q2XP58|Q56H76|Q56H77|Q56H78|Q6JSL4|Q6JSL5|Q6JSL6|Q6JSL7|Q6JSL8|Q6W5P3|Q6ZMB8	Silent	SNP	ENST00000360581.1	37	c.270G>A	CCDS5444.1																																																																																				0.393	NPSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216837.1	NM_207173		7	103	0	0	0	0	7	103				
TBX20	57057	broad.mit.edu	37	7	35280555	35280555	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:35280555T>C	ENST00000408931.3	-	5	1275	c.749A>G	c.(748-750)gAa>gGa	p.E250G		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	250					aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						AGTTCTAAATTCTTCAGACTT	0.398																																						uc011kas.1		NA																	0				central_nervous_system(1)	1						c.(748-750)GAA>GGA		T-box transcription factor TBX20							109.0	100.0	103.0					7																	35280555		2203	4300	6503	SO:0001583	missense	57057					nucleus	DNA binding	g.chr7:35280555T>C	AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"""T-boxes"""	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.749A>G	7.37:g.35280555T>C	ENSP00000386170:p.Glu250Gly						p.E250G	NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN			5	760	-			250			T-box.		A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Missense_Mutation	SNP	ENST00000408931.3	37	c.749A>G	CCDS43568.1	.	.	.	.	.	.	.	.	.	.	T	16.63	3.175547	0.57692	.	.	ENSG00000164532	ENST00000408931	D	0.89552	-2.53	5.72	5.72	0.89469	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.90518	0.7029	L	0.39514	1.22	0.80722	D	1	D	0.56521	0.976	P	0.62298	0.9	D	0.88272	0.2930	10	0.21540	T	0.41	.	16.0129	0.80417	0.0:0.0:0.0:1.0	.	250	Q9UMR3	TBX20_HUMAN	G	250	ENSP00000386170:E250G	ENSP00000386170:E250G	E	-	2	0	TBX20	35247080	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.988000	0.88194	2.184000	0.69523	0.482000	0.46254	GAA		0.398	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216870.2	NM_020417		8	100	0	0	0	0	8	100				
GLI3	2737	broad.mit.edu	37	7	42017296	42017296	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:42017296G>C	ENST00000395925.3	-	12	1757	c.1673C>G	c.(1672-1674)tCg>tGg	p.S558W	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	558					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TTCTAGTCTCGAGTAGGCCTT	0.458									Pallister-Hall syndrome;Greig Cephalopolysyndactyly		OREG0018015	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc011kbh.1		NA																	0				lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						c.(1672-1674)TCG>TGG		GLI-Kruppel family member GLI3							222.0	187.0	199.0					7																	42017296		2203	4300	6503	SO:0001583	missense	2737	Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42017296G>C		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.1673C>G	7.37:g.42017296G>C	ENSP00000379258:p.Ser558Trp		OREG0018015	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	905	GLI3_uc011kbg.1_Missense_Mutation_p.S499W	p.S558W	NM_000168	NP_000159	P10071	GLI3_HUMAN			12	1764	-			558			C2H2-type 3.		A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.1673C>G	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.557415	0.86231	.	.	ENSG00000106571	ENST00000395925	T	0.44881	0.91	5.82	5.82	0.92795	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.68568	0.3015	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70572	-0.4835	10	0.87932	D	0	.	20.1092	0.97906	0.0:0.0:1.0:0.0	.	558	P10071	GLI3_HUMAN	W	558	ENSP00000379258:S558W	ENSP00000379258:S558W	S	-	2	0	GLI3	41983821	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.807000	0.99171	2.745000	0.94114	0.655000	0.94253	TCG		0.458	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		9	139	0	0	0	0	9	139				
MRPS24	64951	broad.mit.edu	37	7	43906549	43906549	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:43906549G>A	ENST00000317534.5	-	4	314	c.253C>T	c.(253-255)Cga>Tga	p.R85*	URGCP-MRPS24_ENST00000603700.1_3'UTR|MRPS24_ENST00000467084.1_5'UTR	NM_032014.2	NP_114403.1	Q96EL2	RT24_HUMAN	mitochondrial ribosomal protein S24	85					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrial small ribosomal subunit (GO:0005763)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5						TCCACCGTTCGCTCTGCGGCA	0.557																																						uc003tit.1		NA																	0					0						c.(253-255)CGA>TGA		mitochondrial ribosomal protein S24 precursor							65.0	61.0	63.0					7																	43906549		2203	4300	6503	SO:0001587	stop_gained	64951				translation	mitochondrial large ribosomal subunit|mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr7:43906549G>A	AB061207	CCDS5473.1	7p14	2012-09-13			ENSG00000062582	ENSG00000062582		"""Mitochondrial ribosomal proteins / small subunits"""	14510	protein-coding gene	gene with protein product		611986				8127713, 11279123	Standard	NM_032014		Approved	MRP-S24, HSPC335	uc003tit.1	Q96EL2	OTTHUMG00000023175	ENST00000317534.5:c.253C>T	7.37:g.43906549G>A	ENSP00000318158:p.Arg85*						p.R85*	NM_032014	NP_114403	Q96EL2	RT24_HUMAN			4	304	-			85					A4D1U9|P82668|Q96Q23|Q9P047	Nonsense_Mutation	SNP	ENST00000317534.5	37	c.253C>T	CCDS5473.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.666788	0.67814	.	.	ENSG00000062582	ENST00000317534	.	.	.	5.24	-4.79	0.03200	.	0.057888	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	8.0651	0.30657	0.1378:0.0:0.3509:0.5112	.	.	.	.	X	85	.	ENSP00000318158:R85X	R	-	1	2	MRPS24	43873074	1.000000	0.71417	0.283000	0.24790	0.917000	0.54804	1.580000	0.36547	-0.689000	0.05149	-0.136000	0.14681	CGA		0.557	MRPS24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250949.1	NM_032014		11	92	0	0	0	0	11	92				
AEBP1	165	broad.mit.edu	37	7	44153765	44153765	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:44153765G>C	ENST00000223357.3	+	21	3687	c.3382G>C	c.(3382-3384)Gag>Cag	p.E1128Q	AEBP1_ENST00000450684.2_Missense_Mutation_p.E703Q	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1128	Glu-rich.|Interaction with MAPK1 and MAPK3. {ECO:0000250}.|Required for transcriptional repression. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GTTTgaggaagaggaggagga	0.557																																						uc003tkb.2		NA																	0					0						c.(3382-3384)GAG>CAG		adipocyte enhancer binding protein 1 precursor							102.0	97.0	99.0					7																	44153765		2203	4300	6503	SO:0001583	missense	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44153765G>C	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.3382G>C	7.37:g.44153765G>C	ENSP00000223357:p.Glu1128Gln					AEBP1_uc003tkc.3_Missense_Mutation_p.E703Q|AEBP1_uc003tkd.2_Missense_Mutation_p.E378Q	p.E1128Q	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN			21	3687	+			1128			Required for transcriptional repression (By similarity).|Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	ENST00000223357.3	37	c.3382G>C	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.259098	0.23051	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	D;D	0.95588	-3.75;-3.17	1.92	0.978	0.19740	.	14.453200	0.00166	N	0.000001	D	0.88683	0.6503	N	0.17082	0.46	0.09310	N	0.999992	P;P	0.37233	0.549;0.588	B;B	0.28232	0.087;0.072	D	0.84499	0.0615	10	0.87932	D	0	.	3.423	0.07400	0.4164:0.0:0.5835:0.0	.	703;1128	Q8IUX7-2;Q8IUX7	.;AEBP1_HUMAN	Q	1128;703	ENSP00000223357:E1128Q;ENSP00000398878:E703Q	ENSP00000223357:E1128Q	E	+	1	0	AEBP1	44120290	0.863000	0.29885	0.070000	0.20053	0.008000	0.06430	1.515000	0.35845	1.044000	0.40200	0.467000	0.42956	GAG		0.557	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		5	77	0	0	0	0	5	77				
IGFBP3	3486	broad.mit.edu	37	7	45956231	45956231	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:45956231A>T	ENST00000275521.6	-	3	799	c.666T>A	c.(664-666)aaT>aaA	p.N222K	IGFBP3_ENST00000381086.5_Missense_Mutation_p.N125K|IGFBP3_ENST00000465642.1_5'UTR|IGFBP3_ENST00000381083.4_Missense_Mutation_p.N228K	NM_000598.4|NM_001013398.1	NP_000589.2|NP_001013416.1	P17936	IBP3_HUMAN	insulin-like growth factor binding protein 3	222	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				apoptotic process (GO:0006915)|cellular protein metabolic process (GO:0044267)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoblast differentiation (GO:0001649)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of myoblast differentiation (GO:0045663)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|insulin-like growth factor binding protein complex (GO:0016942)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activator activity (GO:0008160)			large_intestine(6)|lung(7)|pancreas(1)|prostate(3)	17					Mecasermin(DB01277)	ACTTCAGGTGATTCAGTGTGT	0.463																																						uc003tns.2		NA																	0				large_intestine(2)|lung(1)	3						c.(664-666)AAT>AAA		insulin-like growth factor binding protein 3	Mecasermin(DB01277)						192.0	165.0	174.0					7																	45956231		2203	4300	6503	SO:0001583	missense	3486				negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth	nucleus	insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity	g.chr7:45956231A>T		CCDS5505.1, CCDS34632.1	7p12.3	2014-09-17			ENSG00000146674	ENSG00000146674			5472	protein-coding gene	gene with protein product	"""growth hormone-dependent binding protein"", ""acid stable subunit of the 140 K IGF complex"", ""binding protein 53"", ""binding protein 29"", ""IGF-binding protein 3"""	146732				1695633	Standard	NM_000598		Approved	IBP3, BP-53	uc003tnr.3	P17936	OTTHUMG00000023769	ENST00000275521.6:c.666T>A	7.37:g.45956231A>T	ENSP00000275521:p.Asn222Lys					IGFBP3_uc003tnq.2_RNA|IGFBP3_uc003tnr.2_Missense_Mutation_p.N228K|IGFBP3_uc003tnt.2_Missense_Mutation_p.N125K	p.N222K	NM_000598	NP_000589	P17936	IBP3_HUMAN			3	798	-			222			Thyroglobulin type-1.		A4D2F5|D3DVM0|Q2V509|Q6P1M6|Q9UCL4	Missense_Mutation	SNP	ENST00000275521.6	37	c.666T>A	CCDS5505.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	16.08|16.08|16.08	3.021831|3.021831|3.021831	0.54576|0.54576|0.54576	.|.|.	.|.|.	ENSG00000146674|ENSG00000146674|ENSG00000146674	ENST00000428530|ENST00000545032;ENST00000275521;ENST00000381086;ENST00000438491;ENST00000442142;ENST00000381083;ENST00000433047;ENST00000448817|ENST00000417621	.|T;T;T;T|.	.|0.62498|.	.|0.03;0.03;0.03;0.02|.	4.83|4.83|4.83	1.77|1.77|1.77	0.24775|0.24775|0.24775	.|Thyroglobulin type-1 (3);|.	.|0.108239|.	.|0.64402|.	.|D|.	.|0.000005|.	T|T|T	0.23572|0.23572|0.23572	0.0570|0.0570|0.0570	N|N|N	0.11756|0.11756|0.11756	0.17|0.17|0.17	0.29994|0.29994|0.29994	N|N|N	0.816637|0.816637|0.816637	.|B;B;P|.	.|0.38223|.	.|0.363;0.363;0.623|.	.|P;P;P|.	.|0.46885|.	.|0.53;0.53;0.53|.	T|T|T	0.27191|0.27191|0.27191	-1.0081|-1.0081|-1.0081	5|10|5	.|0.32370|.	.|T|.	.|0.25|.	-49.9112|-49.9112|-49.9112	8.2126|8.2126|8.2126	0.31492|0.31492|0.31492	0.3269:0.0:0.6731:0.0|0.3269:0.0:0.6731:0.0|0.3269:0.0:0.6731:0.0	.|.|.	.|125;222;207|.	.|B3KWK7;P17936;B4DN53|.	.|.;IBP3_HUMAN;.|.	N|K|T	74|199;222;125;208;120;228;194;112|84	.|ENSP00000275521:N222K;ENSP00000370476:N125K;ENSP00000370473:N228K;ENSP00000389668:N112K|.	.|ENSP00000275521:N222K|.	I|N|S	-|-|-	2|3|1	0|2|0	IGFBP3|IGFBP3|IGFBP3	45922756|45922756|45922756	0.994000|0.994000|0.994000	0.37717|0.37717|0.37717	0.608000|0.608000|0.608000	0.28969|0.28969|0.28969	0.944000|0.944000|0.944000	0.59088|0.59088|0.59088	0.287000|0.287000|0.287000	0.18920|0.18920|0.18920	0.031000|0.031000|0.031000	0.15407|0.15407|0.15407	-0.274000|-0.274000|-0.274000	0.10170|0.10170|0.10170	ATC|AAT|TCA		0.463	IGFBP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251356.3	NM_001013398		28	226	0	0	0	0	28	226				
PKD1L1	168507	broad.mit.edu	37	7	47906074	47906074	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:47906074C>G	ENST00000289672.2	-	25	4085	c.4035G>C	c.(4033-4035)tgG>tgC	p.W1345C		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1345	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GTATTCGTGACCATTGGTTGC	0.433																																						uc003tny.1		NA																	0				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						c.(4033-4035)TGG>TGC		polycystin-1L1							184.0	158.0	167.0					7																	47906074		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47906074C>G	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.4035G>C	7.37:g.47906074C>G	ENSP00000289672:p.Trp1345Cys						p.W1345C	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			25	4035	-			1345			Extracellular (Potential).|REJ.		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.4035G>C	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.484309	0.26598	.	.	ENSG00000158683	ENST00000289672	T	0.20069	2.1	4.94	4.94	0.65067	Egg jelly receptor, REJ-like (1);	0.334627	0.25060	N	0.033448	T	0.37183	0.0994	L	0.57536	1.79	0.47698	D	0.99949	D	0.76494	0.999	D	0.67103	0.949	T	0.04991	-1.0913	10	0.41790	T	0.15	-12.4328	9.316	0.37934	0.0:0.9008:0.0:0.0992	.	1345	Q8TDX9	PK1L1_HUMAN	C	1345	ENSP00000289672:W1345C	ENSP00000289672:W1345C	W	-	3	0	PKD1L1	47872599	1.000000	0.71417	0.816000	0.32577	0.130000	0.20726	1.318000	0.33643	2.300000	0.77407	0.655000	0.94253	TGG		0.433	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		11	131	0	0	0	0	11	131				
ABCA13	154664	broad.mit.edu	37	7	48428758	48428758	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:48428758C>G	ENST00000435803.1	+	37	11619	c.11595C>G	c.(11593-11595)ttC>ttG	p.F3865L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3865	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GCCTGACCTTCTACAGAGACC	0.537																																						uc003toq.2		NA																	0				ovary(5)|central_nervous_system(4)|skin(1)	10						c.(11593-11595)TTC>TTG		ATP binding cassette, sub-family A (ABC1),							59.0	61.0	60.0					7																	48428758		1911	4138	6049	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48428758C>G	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.11595C>G	7.37:g.48428758C>G	ENSP00000411096:p.Phe3865Leu					ABCA13_uc010kys.1_Missense_Mutation_p.F939L|ABCA13_uc003tos.1_Missense_Mutation_p.F691L|ABCA13_uc010kyt.1_RNA	p.F3865L	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			37	11620	+			3865			ABC transporter 1.		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.11595C>G	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.373751	0.61624	.	.	ENSG00000179869	ENST00000435803	D	0.92149	-2.98	4.59	0.639	0.17747	ABC transporter-like (1);	0.000000	0.45126	D	0.000390	D	0.87861	0.6284	N	0.05199	-0.095	0.80722	D	1	D;D	0.60160	0.978;0.987	P;D	0.67103	0.903;0.949	D	0.84386	0.0552	10	0.46703	T	0.11	.	8.0645	0.30652	0.0:0.6283:0.0:0.3717	.	1567;3865	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	L	3865	ENSP00000411096:F3865L	ENSP00000411096:F3865L	F	+	3	2	ABCA13	48399304	1.000000	0.71417	0.954000	0.39281	0.724000	0.41520	2.279000	0.43435	0.137000	0.18759	-0.140000	0.14226	TTC		0.537	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		10	78	0	0	0	0	10	78				
ELN	2006	broad.mit.edu	37	7	73455550	73455550	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:73455550C>T	ENST00000252034.7	+	5	600	c.201C>T	c.(199-201)ccC>ccT	p.P67P	ELN_ENST00000414324.1_Silent_p.P57P|ELN_ENST00000458204.1_Silent_p.P57P|ELN_ENST00000357036.5_Silent_p.P67P|ELN_ENST00000380584.4_Silent_p.P67P|ELN_ENST00000380575.4_Silent_p.P57P|ELN_ENST00000380576.5_Silent_p.P67P|ELN_ENST00000429192.1_Silent_p.P67P|ELN_ENST00000380562.4_Silent_p.P67P|ELN_ENST00000320399.6_Silent_p.P67P|ELN_ENST00000445912.1_Silent_p.P67P|ELN_ENST00000320492.7_Intron|ELN_ENST00000358929.4_Silent_p.P67P|ELN_ENST00000380553.4_Silent_p.P67P	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	67					blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				CCACAGTTCCCGGAGGGCTTG	0.587			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""																															uc003tzw.2		NA		Dom	yes		7	7q11.23	2006	T	elastin	yes	Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome	L	PAX5		B-ALL		0				ovary(3)|pancreas(2)	5						c.(199-201)CCC>CCT		elastin isoform a precursor	Rofecoxib(DB00533)						257.0	251.0	253.0					7																	73455550		2203	4300	6503	SO:0001819	synonymous_variant	2006				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	g.chr7:73455550C>T		CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.201C>T	7.37:g.73455550C>T						RFC2_uc011kfa.1_Intron|ELN_uc003tzm.1_RNA|ELN_uc011kfe.1_Silent_p.P67P|ELN_uc003tzn.2_Silent_p.P67P|ELN_uc003tzz.2_Intron|ELN_uc003tzo.2_Silent_p.P67P|ELN_uc003tzp.2_Silent_p.P57P|ELN_uc003tzq.2_Silent_p.P67P|ELN_uc003tzr.2_RNA|ELN_uc003tzs.2_Silent_p.P67P|ELN_uc003tzt.2_Silent_p.P67P|ELN_uc003tzu.2_Silent_p.P67P|ELN_uc003tzv.2_Silent_p.P57P|ELN_uc003tzx.2_Silent_p.P57P|ELN_uc011kff.1_Silent_p.P67P|ELN_uc003tzy.2_Silent_p.P57P	p.P67P	NM_000501	NP_001075224	P15502	ELN_HUMAN			5	292	+		Lung NSC(55;0.159)	67					B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Silent	SNP	ENST00000252034.7	37	c.201C>T	CCDS5562.2																																																																																				0.587	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		54	569	0	0	0	0	54	569				
ZNF804B	219578	broad.mit.edu	37	7	88962840	88962840	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:88962840C>T	ENST00000333190.4	+	4	1153	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	182							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CGATAAACAGCGGTCCACCAT	0.413										HNSCC(36;0.09)																												uc011khi.1		NA																	0				ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(544-546)CGG>TGG		zinc finger protein 804B							113.0	109.0	110.0					7																	88962840		2203	4300	6503	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88962840C>T	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.544C>T	7.37:g.88962840C>T	ENSP00000329638:p.Arg182Trp	HNSCC(36;0.09)					p.R182W	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	1082	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		182					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.544C>T	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.428774	0.25726	.	.	ENSG00000182348	ENST00000333190	T	0.05513	3.43	5.3	2.42	0.29668	.	0.116218	0.39210	N	0.001436	T	0.10380	0.0254	L	0.40543	1.245	0.28638	N	0.907327	D	0.76494	0.999	P	0.53185	0.72	T	0.03473	-1.1033	10	0.87932	D	0	-2.3836	10.323	0.43777	0.3886:0.486:0.1253:0.0	.	182	A4D1E1	Z804B_HUMAN	W	182	ENSP00000329638:R182W	ENSP00000329638:R182W	R	+	1	2	ZNF804B	88800776	0.462000	0.25791	0.791000	0.31998	0.767000	0.43475	0.099000	0.15210	0.341000	0.23771	-0.175000	0.13238	CGG		0.413	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		10	104	0	0	0	0	10	104				
ANKIB1	54467	broad.mit.edu	37	7	92027054	92027054	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:92027054A>G	ENST00000265742.3	+	19	2789	c.2413A>G	c.(2413-2415)Agc>Ggc	p.S805G		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	805							zinc ion binding (GO:0008270)	p.S805G(1)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGAAGGCGGCAGCAGCAGCCG	0.458																																						uc003ulw.2		NA																	1	Substitution - Missense(1)		endometrium(1)	lung(1)	1						c.(2413-2415)AGC>GGC		ankyrin repeat and IBR domain containing 1							136.0	147.0	144.0					7																	92027054		1931	4159	6090	SO:0001583	missense	54467						protein binding|zinc ion binding	g.chr7:92027054A>G	AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"""Ankyrin repeat domain containing"""	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.2413A>G	7.37:g.92027054A>G	ENSP00000265742:p.Ser805Gly					ANKIB1_uc010lew.1_Missense_Mutation_p.S74G	p.S805G	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		19	2789	+	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		805					Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Missense_Mutation	SNP	ENST00000265742.3	37	c.2413A>G	CCDS47639.1	.	.	.	.	.	.	.	.	.	.	A	3.203	-0.163395	0.06502	.	.	ENSG00000001629	ENST00000265742	T	0.10288	2.89	1.06	1.06	0.20224	.	0.954791	0.08674	N	0.910432	T	0.08088	0.0202	N	0.08118	0	0.27455	N	0.953319	P;B	0.46395	0.877;0.043	P;B	0.51866	0.682;0.003	T	0.32268	-0.9913	10	0.22109	T	0.4	.	4.1779	0.10360	1.0:0.0:0.0:0.0	.	157;805	Q4VBX8;Q9P2G1	.;AKIB1_HUMAN	G	805	ENSP00000265742:S805G	ENSP00000265742:S805G	S	+	1	0	ANKIB1	91864990	1.000000	0.71417	0.851000	0.33527	0.903000	0.53119	0.877000	0.28106	0.388000	0.25054	0.383000	0.25322	AGC		0.458	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1			17	271	0	0	0	0	17	271				
PON3	5446	broad.mit.edu	37	7	94996775	94996775	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:94996775C>T	ENST00000265627.5	-	5	403	c.393G>A	c.(391-393)gtG>gtA	p.V131V	PON1_ENST00000542556.1_Intron|PON3_ENST00000427422.1_Silent_p.V131V|PON3_ENST00000451904.1_Silent_p.V131V	NM_000940.2	NP_000931.1	Q15166	PON3_HUMAN	paraoxonase 3	131					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|coumarin catabolic process (GO:0046226)|phenylacetate catabolic process (GO:0010124)|response to external stimulus (GO:0009605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	3,4-dihydrocoumarin hydrolase activity (GO:0018733)|aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|dihydrocoumarin hydrolase activity (GO:0047856)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)		Edetic Acid(DB00974)|Lovastatin(DB00227)	GGGGATGATTCACAACATAAA	0.328																																						uc003unt.2		NA																	0				ovary(1)	1						c.(391-393)GTG>GTA		paraoxonase 3							119.0	126.0	124.0					7																	94996775		2203	4300	6503	SO:0001819	synonymous_variant	5446				aromatic compound catabolic process|carboxylic acid catabolic process|response to external stimulus	extracellular space	aryldialkylphosphatase activity|arylesterase activity|metal ion binding|protein homodimerization activity	g.chr7:94996775C>T	L48516, AF320003	CCDS5639.1	7q21.3	2014-03-14			ENSG00000105852	ENSG00000105852	3.1.1.2	"""Paraoxonases"""	9206	protein-coding gene	gene with protein product	"""arylesterase 3"""	602720				8661009	Standard	NM_000940		Approved			Q15166	OTTHUMG00000153917	ENST00000265627.5:c.393G>A	7.37:g.94996775C>T						PON1_uc011kih.1_Intron|PON3_uc011kii.1_Silent_p.V179V	p.V131V	NM_000940	NP_000931	Q15166	PON3_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		5	418	-	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		131					A4D1H8|O75855|O76060|Q6IRU9|Q8IX97|Q9BZH9	Silent	SNP	ENST00000265627.5	37	c.393G>A	CCDS5639.1																																																																																				0.328	PON3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333007.1	NM_000940		15	184	0	0	0	0	15	184				
GAL3ST4	79690	broad.mit.edu	37	7	99758392	99758392	+	Missense_Mutation	SNP	C	C	T	rs143212385		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:99758392C>T	ENST00000360039.4	-	4	1012	c.620G>A	c.(619-621)cGc>cAc	p.R207H	C7orf43_ENST00000457641.1_5'Flank|GAL3ST4_ENST00000423751.1_Missense_Mutation_p.A106T|GAL3ST4_ENST00000411994.1_Missense_Mutation_p.A106T|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.R207H|C7orf43_ENST00000316937.3_5'Flank|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.R145H	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	207					cell-cell signaling (GO:0007267)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TAGTAAGTTGCGAGCGTAGTG	0.592																																						uc003utt.2		NA																	0				ovary(3)	3						c.(619-621)CGC>CAC		galactose-3-O-sulfotransferase 4		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	53.0	58.0	57.0		620	4.8	1.0	7	dbSNP_134	57	0,8600		0,0,4300	no	missense	GAL3ST4	NM_024637.4	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	207/487	99758392	1,13005	2203	4300	6503	SO:0001583	missense	79690				cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	g.chr7:99758392C>T	AF316113	CCDS5688.1	7q22.1	2007-04-02			ENSG00000197093	ENSG00000197093		"""Sulfotransferases, membrane-bound"""	24145	protein-coding gene	gene with protein product		608235				11333265	Standard	NM_024637		Approved	FLJ12116	uc003utu.3	Q96RP7	OTTHUMG00000154885	ENST00000360039.4:c.620G>A	7.37:g.99758392C>T	ENSP00000353142:p.Arg207His					C7orf43_uc003utr.2_5'Flank|C7orf43_uc003uts.2_5'Flank|GAL3ST4_uc003utu.2_Missense_Mutation_p.R207H|GAL3ST4_uc010lgq.2_Missense_Mutation_p.R145H	p.R207H	NM_024637	NP_078913	Q96RP7	G3ST4_HUMAN			3	1637	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		207			Lumenal (Potential).		A4D2A8|B4DWL8|D6W5U5|Q8N3P7|Q8WZ17|Q96E33|Q9HA78	Missense_Mutation	SNP	ENST00000360039.4	37	c.620G>A	CCDS5688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.69|19.69	3.874002|3.874002	0.72180|0.72180	2.27E-4|2.27E-4	0.0|0.0	ENSG00000197093|ENSG00000197093	ENST00000423751;ENST00000411994|ENST00000413800;ENST00000360039;ENST00000426974	.|T;T;T	.|0.15256	.|2.44;2.44;2.44	4.82|4.82	4.82|4.82	0.62117|0.62117	.|.	.|0.158012	.|0.40818	.|U	.|0.001020	T|T	0.34687|0.34687	0.0906|0.0906	L|L	0.52126|0.52126	1.63|1.63	0.44492|0.44492	D|D	0.997438|0.997438	.|D;P	.|0.89917	.|1.0;0.811	.|D;B	.|0.71414	.|0.973;0.253	T|T	0.01382|0.01382	-1.1369|-1.1369	6|10	0.87932|0.40728	D|T	0|0.16	-9.0061|-9.0061	15.4362|15.4362	0.75149|0.75149	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|145;207	.|B4DWL8;Q96RP7	.|.;G3ST4_HUMAN	T|H	106|207;207;145	.|ENSP00000400451:R207H;ENSP00000353142:R207H;ENSP00000398304:R145H	ENSP00000414733:A106T|ENSP00000353142:R207H	A|R	-|-	1|2	0|0	GAL3ST4|GAL3ST4	99596328|99596328	0.895000|0.895000	0.30542|0.30542	0.975000|0.975000	0.42487|0.42487	0.982000|0.982000	0.71751|0.71751	1.789000|1.789000	0.38724|0.38724	2.518000|2.518000	0.84900|0.84900	0.511000|0.511000	0.50034|0.50034	GCA|CGC		0.592	GAL3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337495.2	NM_024637		15	144	0	0	0	0	15	144				
PSMC2	5701	broad.mit.edu	37	7	102996176	102996176	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:102996176G>C	ENST00000435765.1	+	5	637	c.226G>C	c.(226-228)Gca>Cca	p.A76P	SLC26A5_ENST00000356767.4_Intron|PSMC2_ENST00000544811.1_Intron|PSMC2_ENST00000292644.3_Missense_Mutation_p.A76P|SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000393735.2_Intron	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	76					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|osteoblast differentiation (GO:0001649)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						GGCCCCACCAGCACTCTGGGA	0.443																																						uc003vbs.2		NA																	0					0						c.(226-228)GCA>CCA		proteasome 26S ATPase subunit 2							85.0	83.0	84.0					7																	102996176		2203	4300	6503	SO:0001583	missense	5701				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	g.chr7:102996176G>C	D11094	CCDS5731.1	7q22.1-q22.3	2010-04-21			ENSG00000161057	ENSG00000161057		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9548	protein-coding gene	gene with protein product	"""proteasome 26S subunit, ATPase, 2"", ""mammalian suppressor of sgv-1 of yeast"", ""protease 26S subunit 7"", ""putative protein product of Nbla10058"""	154365				9473509, 1377363	Standard	NM_002803		Approved	MSS1, S7, Nbla10058	uc003vbs.3	P35998	OTTHUMG00000157206	ENST00000435765.1:c.226G>C	7.37:g.102996176G>C	ENSP00000391211:p.Ala76Pro					SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|PSMC2_uc011kln.1_Missense_Mutation_p.A76P|PSMC2_uc011klo.1_Intron	p.A76P	NM_002803	NP_002794	P35998	PRS7_HUMAN			4	296	+			76					A4D0Q1|B7Z5E2|Q3LIA5|Q9UDI3	Missense_Mutation	SNP	ENST00000435765.1	37	c.226G>C	CCDS5731.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.010196	0.93346	.	.	ENSG00000161057	ENST00000457587;ENST00000425206;ENST00000435765;ENST00000292644	D;D	0.94650	-3.48;-3.48	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.93631	0.7966	L	0.60455	1.87	0.80722	D	1	P	0.44478	0.836	B	0.42555	0.391	D	0.93041	0.6457	10	0.38643	T	0.18	-18.23	19.332	0.94295	0.0:0.0:1.0:0.0	.	76	P35998	PRS7_HUMAN	P	76	ENSP00000391211:A76P;ENSP00000292644:A76P	ENSP00000292644:A76P	A	+	1	0	PSMC2	102783412	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	9.709000	0.98729	2.646000	0.89796	0.555000	0.69702	GCA		0.443	PSMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347922.1	NM_002803		7	70	0	0	0	0	7	70				
RELN	5649	broad.mit.edu	37	7	103138545	103138545	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:103138545T>A	ENST00000428762.1	-	54	8981	c.8822A>T	c.(8821-8823)gAt>gTt	p.D2941V	RELN_ENST00000424685.2_Missense_Mutation_p.D2941V|RELN_ENST00000343529.5_Missense_Mutation_p.D2941V|CTB-107G13.1_ENST00000422488.1_RNA	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2941					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AAGATCCAAATCTTGTGTAAC	0.423																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(8821-8823)GAT>GTT		reelin isoform a							107.0	103.0	105.0					7																	103138545		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103138545T>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.8822A>T	7.37:g.103138545T>A	ENSP00000392423:p.Asp2941Val					RELN_uc010liz.2_Missense_Mutation_p.D2941V	p.D2941V	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	54	8982	-			2941					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.8822A>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.676919	0.88445	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.30182	1.54;1.54;1.54	5.89	5.89	0.94794	Neuraminidase (2);	0.000000	0.85682	D	0.000000	T	0.55784	0.1942	M	0.73217	2.22	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.74023	0.982;0.968	T	0.58064	-0.7702	10	0.62326	D	0.03	.	16.3158	0.82923	0.0:0.0:0.0:1.0	.	2941;2941	P78509-2;P78509	.;RELN_HUMAN	V	2941;2941;2941;458;2941	ENSP00000392423:D2941V;ENSP00000345694:D2941V;ENSP00000388446:D2941V	ENSP00000345694:D2941V	D	-	2	0	RELN	102925781	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.484000	0.81180	2.254000	0.74563	0.533000	0.62120	GAT		0.423	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		16	166	0	0	0	0	16	166				
ORC5	5001	broad.mit.edu	37	7	103835694	103835694	+	Silent	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:103835694T>C	ENST00000297431.4	-	5	592	c.450A>G	c.(448-450)agA>agG	p.R150R	ORC5_ENST00000485726.1_5'UTR|ORC5_ENST00000545943.1_Silent_p.R18R|ORC5_ENST00000447452.2_Silent_p.R150R	NM_002553.3	NP_002544.1	O43913	ORC5_HUMAN	origin recognition complex, subunit 5	150					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)	ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166)			kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						CAGTCACATTTCTGTCAGCCT	0.348																																						uc003vcb.2		NA																	0					0						c.(448-450)AGA>AGG		origin recognition complex subunit 5 isoform 1							86.0	85.0	85.0					7																	103835694		2203	4299	6502	SO:0001819	synonymous_variant	5001				cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	cytoplasm|nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|identical protein binding	g.chr7:103835694T>C		CCDS5734.1, CCDS47681.1	7q22.1	2014-06-13	2010-10-12	2010-10-12	ENSG00000164815	ENSG00000164815			8491	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 117"""	602331	"""origin recognition complex, subunit 5 (yeast homolog)-like"", ""origin recognition complex, subunit 5-like (yeast)"", ""origin recognition complex, subunit 5 homolog (yeast)"""	ORC5L		9417919, 9829972	Standard	NM_002553		Approved	Orc5p, ORC5T, PPP1R117	uc003vcb.3	O43913	OTTHUMG00000157275	ENST00000297431.4:c.450A>G	7.37:g.103835694T>C						ORC5L_uc011klp.1_Silent_p.R18R|ORC5L_uc003vcc.2_Silent_p.R150R|ORC5L_uc003vcd.2_Silent_p.R150R	p.R150R	NM_002553	NP_002544	O43913	ORC5_HUMAN			5	561	-			150					A4D0P8|O60590|O95268	Silent	SNP	ENST00000297431.4	37	c.450A>G	CCDS5734.1																																																																																				0.348	ORC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348286.1	NM_002553		9	98	0	0	0	0	9	98				
ORC5	5001	broad.mit.edu	37	7	103838195	103838195	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:103838195C>G	ENST00000297431.4	-	4	561	c.419G>C	c.(418-420)gGa>gCa	p.G140A	ORC5_ENST00000485726.1_5'UTR|ORC5_ENST00000545943.1_Missense_Mutation_p.G8A|ORC5_ENST00000447452.2_Missense_Mutation_p.G140A	NM_002553.3	NP_002544.1	O43913	ORC5_HUMAN	origin recognition complex, subunit 5	140					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)	ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166)			kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						TCTAAGAAATCCAGGCAAAAG	0.303																																						uc003vcb.2		NA																	0					0						c.(418-420)GGA>GCA		origin recognition complex subunit 5 isoform 1							60.0	61.0	61.0					7																	103838195		2201	4296	6497	SO:0001583	missense	5001				cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	cytoplasm|nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|identical protein binding	g.chr7:103838195C>G		CCDS5734.1, CCDS47681.1	7q22.1	2014-06-13	2010-10-12	2010-10-12	ENSG00000164815	ENSG00000164815			8491	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 117"""	602331	"""origin recognition complex, subunit 5 (yeast homolog)-like"", ""origin recognition complex, subunit 5-like (yeast)"", ""origin recognition complex, subunit 5 homolog (yeast)"""	ORC5L		9417919, 9829972	Standard	NM_002553		Approved	Orc5p, ORC5T, PPP1R117	uc003vcb.3	O43913	OTTHUMG00000157275	ENST00000297431.4:c.419G>C	7.37:g.103838195C>G	ENSP00000297431:p.Gly140Ala					ORC5L_uc011klp.1_Missense_Mutation_p.G8A|ORC5L_uc003vcc.2_Missense_Mutation_p.G140A|ORC5L_uc003vcd.2_Missense_Mutation_p.G140A	p.G140A	NM_002553	NP_002544	O43913	ORC5_HUMAN			4	530	-			140					A4D0P8|O60590|O95268	Missense_Mutation	SNP	ENST00000297431.4	37	c.419G>C	CCDS5734.1	.	.	.	.	.	.	.	.	.	.	C	1.291	-0.607531	0.03717	.	.	ENSG00000164815	ENST00000297431;ENST00000545943;ENST00000447452	T;T;T	0.38240	1.61;1.15;1.61	5.56	4.64	0.57946	.	0.150044	0.64402	D	0.000014	T	0.16471	0.0396	N	0.02708	-0.52	0.34140	D	0.666313	B;B;B	0.11235	0.001;0.004;0.001	B;B;B	0.12837	0.003;0.008;0.003	T	0.09443	-1.0674	10	0.02654	T	1	.	18.7412	0.91774	0.0:0.8415:0.1585:0.0	.	140;140;140	A4D0P7;O43913-2;O43913	.;.;ORC5_HUMAN	A	140;8;140	ENSP00000297431:G140A;ENSP00000438018:G8A;ENSP00000395747:G140A	ENSP00000297431:G140A	G	-	2	0	ORC5	103625431	0.988000	0.35896	0.989000	0.46669	0.986000	0.74619	2.650000	0.46665	2.628000	0.89032	0.455000	0.32223	GGA		0.303	ORC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348286.1	NM_002553		4	49	0	0	0	0	4	49				
CTTNBP2	83992	broad.mit.edu	37	7	117375351	117375351	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:117375351G>A	ENST00000160373.3	-	15	3751	c.3660C>T	c.(3658-3660)agC>agT	p.S1220S		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1220					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GGCTTTCAGTGCTGCGATTTT	0.388																																						uc003vjf.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(3658-3660)AGC>AGT		cortactin binding protein 2							68.0	74.0	72.0					7																	117375351		2203	4300	6503	SO:0001819	synonymous_variant	83992							g.chr7:117375351G>A		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.3660C>T	7.37:g.117375351G>A							p.S1220S	NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	15	3752	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		1220					O43389|Q7LG11|Q9C0A5	Silent	SNP	ENST00000160373.3	37	c.3660C>T	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	G	9.909	1.208936	0.22205	.	.	ENSG00000077063	ENST00000446636	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	T	0.65668	0.2713	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62756	-0.6787	4	.	.	.	-1.2748	13.5357	0.61646	0.0809:0.0:0.9191:0.0	.	.	.	.	Y	708	.	.	H	-	1	0	CTTNBP2	117162587	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.355000	0.44107	2.745000	0.94114	0.655000	0.94253	CAC		0.388	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		10	124	0	0	0	0	10	124				
GPR37	2861	broad.mit.edu	37	7	124386639	124386639	+	Silent	SNP	C	C	T	rs374455144	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:124386639C>T	ENST00000303921.2	-	2	2432	c.1782G>A	c.(1780-1782)tcG>tcA	p.S594S		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	594					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TACTGAAAGGCGAGAGTTCGA	0.463													C|||	3	0.000599042	0.0008	0.0	5008	,	,		17433	0.002		0.0	False		,,,				2504	0.0					uc003vli.2		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(1780-1782)TCG>TCA		G protein-coupled receptor 37 precursor		C		0,4406		0,0,2203	185.0	160.0	169.0		1782	-10.7	0.5	7		169	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GPR37	NM_005302.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		594/614	124386639	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2861					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:124386639C>T		CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"""GPCR / Class A : Orphans"""	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.1782G>A	7.37:g.124386639C>T							p.S594S	NM_005302	NP_005293	O15354	GPR37_HUMAN			2	2433	-			594			Cytoplasmic (Potential).		A4D0Y6|O00348|O14768|Q8TD39	Silent	SNP	ENST00000303921.2	37	c.1782G>A	CCDS5792.1																																																																																				0.463	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302		17	182	0	0	0	0	17	182				
CPA2	1358	broad.mit.edu	37	7	129910535	129910535	+	Silent	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:129910535C>G	ENST00000222481.4	+	4	346	c.291C>G	c.(289-291)gtC>gtG	p.V97V		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	97					protein catabolic process in the vacuole (GO:0007039)	extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					TATCTTAGGTCCTGTTGGACA	0.423																																						uc003vpq.2		NA																	0				ovary(1)	1						c.(289-291)GTC>GTG		carboxypeptidase A2 (pancreatic) precursor							99.0	97.0	98.0					7																	129910535		2203	4300	6503	SO:0001819	synonymous_variant	1358				proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding	g.chr7:129910535C>G	U19977	CCDS5817.2	7q32	2012-02-10			ENSG00000158516	ENSG00000158516	3.4.17.15		2297	protein-coding gene	gene with protein product		600688				7896805, 10860668	Standard	NM_001869		Approved		uc003vpq.3	P48052	OTTHUMG00000157019	ENST00000222481.4:c.291C>G	7.37:g.129910535C>G						CPA2_uc011kpc.1_Silent_p.V97V	p.V97V	NM_001869	NP_001860	P48052	CBPA2_HUMAN			4	310	+	Melanoma(18;0.0435)		97					A4D1M4|C9JIK1|Q53XS1|Q96A12|Q96QN3|Q9UCF1	Silent	SNP	ENST00000222481.4	37	c.291C>G	CCDS5817.2																																																																																				0.423	CPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347124.2	NM_001869		11	102	0	0	0	0	11	102				
DGKI	9162	broad.mit.edu	37	7	137092654	137092654	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:137092654T>C	ENST00000288490.5	-	31	2911	c.2911A>G	c.(2911-2913)Aac>Gac	p.N971D	DGKI_ENST00000446122.1_Missense_Mutation_p.N953D|DGKI_ENST00000424189.2_Missense_Mutation_p.N984D|DGKI_ENST00000494390.1_5'UTR|DGKI_ENST00000453654.2_Missense_Mutation_p.N640D	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	971					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						ATCTCCCCGTTGCCGGTTTTA	0.428																																						uc003vtt.2		NA																	0				ovary(1)|kidney(1)|skin(1)	3						c.(2911-2913)AAC>GAC		diacylglycerol kinase, iota							210.0	177.0	188.0					7																	137092654		2203	4300	6503	SO:0001583	missense	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137092654T>C	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.2911A>G	7.37:g.137092654T>C	ENSP00000288490:p.Asn971Asp					DGKI_uc003vtu.2_Missense_Mutation_p.N640D	p.N971D	NM_004717	NP_004708	O75912	DGKI_HUMAN			31	2912	-			971			ANK 1.		A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	c.2911A>G	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	T	11.25	1.582225	0.28180	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.64618	-0.11;-0.11;-0.11	5.7	4.53	0.55603	Ankyrin repeat-containing domain (3);	0.095738	0.64402	D	0.000001	T	0.48589	0.1508	L	0.31371	0.925	0.31218	N	0.697808	B;P	0.36183	0.123;0.542	B;B	0.38156	0.139;0.266	T	0.49370	-0.8947	10	0.11794	T	0.64	.	12.2931	0.54829	0.0:0.0:0.3599:0.6401	.	640;971	E9PFX6;O75912	.;DGKI_HUMAN	D	640;888;974;971;953	ENSP00000392161:N640D;ENSP00000288490:N971D;ENSP00000399131:N953D	ENSP00000288490:N971D	N	-	1	0	DGKI	136743194	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.103000	0.31062	0.966000	0.38159	0.533000	0.62120	AAC		0.428	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		12	193	0	0	0	0	12	193				
AKR1D1	6718	broad.mit.edu	37	7	137801394	137801394	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:137801394C>A	ENST00000242375.3	+	9	1009	c.967C>A	c.(967-969)Cat>Aat	p.H323N	AKR1D1_ENST00000432161.1_3'UTR|AKR1D1_ENST00000411726.2_Missense_Mutation_p.H282N|AKR1D1_ENST00000468877.2_3'UTR	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	323					androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|C21-steroid hormone metabolic process (GO:0008207)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|steroid binding (GO:0005496)			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23					Azelaic Acid(DB00548)|Finasteride(DB01216)	ATACCCATTTCATGATGAATA	0.448																																						uc003vtz.2		NA																	0				skin(1)	1						c.(967-969)CAT>AAT		aldo-keto reductase family 1, member D1							133.0	132.0	132.0					7																	137801394		2203	4300	6503	SO:0001583	missense	6718				androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding	g.chr7:137801394C>A	Z28339	CCDS5846.1, CCDS55169.1, CCDS55170.1	7q32-q33	2012-12-04	2012-12-04		ENSG00000122787	ENSG00000122787	1.3.99.6	"""Aldo-keto reductases"""	388	protein-coding gene	gene with protein product	"""delta 4-3-ketosteroid-5-beta-reductase"""	604741	"""aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase)"""	SRD5B1		7508385, 10343119	Standard	NM_005989		Approved		uc003vtz.3	P51857	OTTHUMG00000155787	ENST00000242375.3:c.967C>A	7.37:g.137801394C>A	ENSP00000242375:p.His323Asn					AKR1D1_uc011kqe.1_3'UTR|AKR1D1_uc011kqf.1_Missense_Mutation_p.H282N|AKR1D1_uc010lmy.1_RNA	p.H323N	NM_005989	NP_005980	P51857	AK1D1_HUMAN			9	1036	+			323					A1L4P6|A8K060|B4DPN3|B4DPN8	Missense_Mutation	SNP	ENST00000242375.3	37	c.967C>A	CCDS5846.1	.	.	.	.	.	.	.	.	.	.	C	2.668	-0.278262	0.05679	.	.	ENSG00000122787	ENST00000411726;ENST00000242375	T;T	0.37584	1.19;1.58	4.88	1.95	0.26073	NADP-dependent oxidoreductase domain (2);	0.407307	0.28706	N	0.014417	T	0.20251	0.0487	L	0.32530	0.975	0.34855	D	0.74208	B;B	0.09022	0.002;0.0	B;B	0.06405	0.002;0.001	T	0.23190	-1.0195	10	0.08837	T	0.75	.	5.9099	0.19023	0.4964:0.4128:0.0:0.0908	.	282;323	B4DPN8;P51857	.;AK1D1_HUMAN	N	282;323	ENSP00000402374:H282N;ENSP00000242375:H323N	ENSP00000242375:H323N	H	+	1	0	AKR1D1	137451934	0.810000	0.29049	0.861000	0.33841	0.059000	0.15707	0.254000	0.18314	0.214000	0.20742	0.655000	0.94253	CAT		0.448	AKR1D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341637.1	NM_005989		10	172	1	0	4.38e-07	4.65e-07	10	172				
ATP6V0A4	50617	broad.mit.edu	37	7	138394405	138394405	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:138394405C>T	ENST00000310018.2	-	21	2675	c.2393G>A	c.(2392-2394)gGc>gAc	p.G798D	ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.G798D|ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.G798D	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	798					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AGCAGAGAGGCCCTCCATGAT	0.562																																						uc003vuf.2		NA																	0				pancreas(1)	1						c.(2392-2394)GGC>GAC		ATPase, H+ transporting, lysosomal V0 subunit							181.0	177.0	178.0					7																	138394405		2203	4300	6503	SO:0001583	missense	50617				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr7:138394405C>T	AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"""ATPases / V-type"""	866	protein-coding gene	gene with protein product		605239	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 4"", ""ATPase, H+ transporting, lysosomal V0 subunit A4"""	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.2393G>A	7.37:g.138394405C>T	ENSP00000308122:p.Gly798Asp					ATP6V0A4_uc003vug.2_Missense_Mutation_p.G798D|ATP6V0A4_uc003vuh.2_Missense_Mutation_p.G798D	p.G798D	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN			20	2631	-			798			Cytoplasmic (Potential).		A4D1R4|A8KA80|Q32M47	Missense_Mutation	SNP	ENST00000310018.2	37	c.2393G>A	CCDS5849.1	.	.	.	.	.	.	.	.	.	.	C	34	5.376831	0.95945	.	.	ENSG00000105929	ENST00000310018;ENST00000393054;ENST00000353492	D;D;D	0.88201	-2.35;-2.35;-2.35	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.96667	0.8912	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97442	1.0022	10	0.87932	D	0	-23.94	19.8636	0.96797	0.0:1.0:0.0:0.0	.	798	Q9HBG4	VPP4_HUMAN	D	798	ENSP00000308122:G798D;ENSP00000376774:G798D;ENSP00000253856:G798D	ENSP00000308122:G798D	G	-	2	0	ATP6V0A4	138044945	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.694000	0.91930	0.655000	0.94253	GGC		0.562	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632		16	376	0	0	0	0	16	376				
TTC26	79989	broad.mit.edu	37	7	138874171	138874171	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:138874171C>A	ENST00000464848.1	+	18	1738	c.1658C>A	c.(1657-1659)tCc>tAc	p.S553Y	TTC26_ENST00000478836.2_Missense_Mutation_p.S446Y|TTC26_ENST00000343187.4_Missense_Mutation_p.S522Y|TTC26_ENST00000430935.1_3'UTR|TTC26_ENST00000495038.1_Missense_Mutation_p.S422Y			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	553					cilium assembly (GO:0042384)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle B (GO:0030992)|primary cilium (GO:0072372)				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						AACAGAGTGTCCATCTAAAAT	0.428																																						uc003vus.2		NA																	0				ovary(1)	1						c.(1657-1659)TCC>TAC		tetratricopeptide repeat domain 26 isoform 1							112.0	106.0	108.0					7																	138874171		2203	4300	6503	SO:0001583	missense	79989						binding	g.chr7:138874171C>A	AK022633	CCDS5852.1, CCDS55172.1, CCDS55173.1, CCDS75665.1	7q34	2013-01-11			ENSG00000105948	ENSG00000105948		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	21882	protein-coding gene	gene with protein product							Standard	NM_001144920		Approved	FLJ12571, dyf-13, DYF13	uc003vus.2	A0AVF1	OTTHUMG00000157472	ENST00000464848.1:c.1658C>A	7.37:g.138874171C>A	ENSP00000419279:p.Ser553Tyr					TTC26_uc011kqn.1_3'UTR|TTC26_uc011kqo.1_Missense_Mutation_p.S522Y|TTC26_uc011kqp.1_Missense_Mutation_p.S448Y|TTC26_uc003vut.2_Missense_Mutation_p.S413Y|TTC26_uc011kqq.1_Missense_Mutation_p.S422Y	p.S553Y	NM_024926	NP_079202	A0AVF1	TTC26_HUMAN			18	1772	+			553					A4D1S3|B7Z5M0|C9J2N7|F8W724|Q9H9S8|Q9NTC0	Missense_Mutation	SNP	ENST00000464848.1	37	c.1658C>A	CCDS5852.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.642788	0.47153	.	.	ENSG00000105948	ENST00000495038;ENST00000478836;ENST00000464848;ENST00000343187	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.43	5.43	0.79202	.	0.189736	0.47455	D	0.000231	T	0.28764	0.0713	N	0.08118	0	0.80722	D	1	P;B;B	0.40534	0.72;0.115;0.187	B;B;B	0.39738	0.308;0.081;0.037	T	0.17410	-1.0370	10	0.45353	T	0.12	.	18.0152	0.89238	0.0:1.0:0.0:0.0	.	422;522;553	B7Z2T3;F8W724;A0AVF1	.;.;TTC26_HUMAN	Y	422;446;553;522	ENSP00000418788:S422Y;ENSP00000419178:S446Y;ENSP00000419279:S553Y;ENSP00000339135:S522Y	ENSP00000339135:S522Y	S	+	2	0	TTC26	138524711	0.999000	0.42202	0.994000	0.49952	0.711000	0.40976	5.561000	0.67339	2.527000	0.85204	0.563000	0.77884	TCC		0.428	TTC26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348919.2	NM_024926		20	163	1	0	3.99e-14	4.4e-14	20	163				
DENND2A	27147	broad.mit.edu	37	7	140301642	140301642	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:140301642A>G	ENST00000275884.6	-	2	973	c.556T>C	c.(556-558)Tac>Cac	p.Y186H	DENND2A_ENST00000492720.1_Missense_Mutation_p.Y186H|DENND2A_ENST00000537639.1_Missense_Mutation_p.Y186H|DENND2A_ENST00000496613.1_Missense_Mutation_p.Y186H			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	186					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TGTGGGGAGTAACAAGTCCCT	0.607																																						uc010lnj.2		NA																	0				ovary(3)|breast(1)	4						c.(556-558)TAC>CAC		DENN/MADD domain containing 2A							43.0	45.0	44.0					7																	140301642		1975	4147	6122	SO:0001583	missense	27147							g.chr7:140301642A>G	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.556T>C	7.37:g.140301642A>G	ENSP00000275884:p.Tyr186His					DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.Y186H|DENND2A_uc003vvw.2_Missense_Mutation_p.Y186H|DENND2A_uc003vvx.2_Missense_Mutation_p.Y186H	p.Y186H	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN			1	701	-	Melanoma(164;0.00956)		186					C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	ENST00000275884.6	37	c.556T>C	CCDS43659.1	.	.	.	.	.	.	.	.	.	.	A	15.57	2.871799	0.51695	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000492720	T;T;T;T	0.26660	2.56;2.56;2.56;1.72	5.0	5.0	0.66597	.	0.138507	0.51477	D	0.000096	T	0.47340	0.1440	L	0.57536	1.79	0.42926	D	0.994309	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	T	0.49872	-0.8893	10	0.87932	D	0	-16.4387	14.8641	0.70401	1.0:0.0:0.0:0.0	.	186;186	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	H	186	ENSP00000275884:Y186H;ENSP00000442245:Y186H;ENSP00000419654:Y186H;ENSP00000419464:Y186H	ENSP00000275884:Y186H	Y	-	1	0	DENND2A	139948111	1.000000	0.71417	0.259000	0.24435	0.088000	0.18126	7.171000	0.77595	2.102000	0.63906	0.459000	0.35465	TAC		0.607	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		9	132	0	0	0	0	9	132				
OR6B1	135946	broad.mit.edu	37	7	143701563	143701563	+	Silent	SNP	G	G	A	rs562215999		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:143701563G>A	ENST00000408922.2	+	1	542	c.474G>A	c.(472-474)gcG>gcA	p.A158A		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A158A(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					TCTCCCTGGCGAAGATCTACT	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		21965	0.0		0.0	False		,,,				2504	0.001					uc003wdt.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(472-474)GCG>GCA		olfactory receptor, family 6, subfamily B,							88.0	88.0	88.0					7																	143701563		2122	4254	6376	SO:0001819	synonymous_variant	135946				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143701563G>A		CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813		"""GPCR / Class A : Olfactory receptors"""	8354	protein-coding gene	gene with protein product							Standard	NM_001005281		Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.474G>A	7.37:g.143701563G>A							p.A158A	NM_001005281	NP_001005281	O95007	OR6B1_HUMAN			1	474	+	Melanoma(164;0.0783)		158			Helical; Name=4; (Potential).		A4D2G2|B9EH47|Q6IFP6|Q96R38	Silent	SNP	ENST00000408922.2	37	c.474G>A	CCDS43667.1																																																																																				0.532	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349566.1			12	93	0	0	0	0	12	93				
CUL1	8454	broad.mit.edu	37	7	148463737	148463737	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:148463737G>A	ENST00000325222.4	+	8	1153	c.874G>A	c.(874-876)Gaa>Aaa	p.E292K	CUL1_ENST00000409469.1_Missense_Mutation_p.E292K|CUL1_ENST00000602748.1_Missense_Mutation_p.E292K	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	292					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			AAGGAAATGTGAACAAGTCCT	0.378																																						uc010lpg.2		NA																	0				lung(1)	1						c.(874-876)GAA>AAA		cullin 1							63.0	60.0	61.0					7																	148463737		2203	4300	6503	SO:0001583	missense	8454				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr7:148463737G>A	U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.874G>A	7.37:g.148463737G>A	ENSP00000326804:p.Glu292Lys					CUL1_uc003wey.2_Missense_Mutation_p.E292K|CUL1_uc003wez.2_Missense_Mutation_p.E182K	p.E292K	NM_003592	NP_003583	Q13616	CUL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		8	1400	+	Melanoma(164;0.15)		292					D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	ENST00000325222.4	37	c.874G>A	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	G	35	5.519607	0.96416	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	T;T	0.75477	-0.94;-0.94	4.81	4.81	0.61882	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.048471	0.85682	D	0.000000	D	0.88112	0.6349	M	0.93462	3.42	0.80722	D	1	D	0.62365	0.991	P	0.57468	0.821	D	0.91604	0.5297	10	0.72032	D	0.01	-13.5448	18.2561	0.90020	0.0:0.0:1.0:0.0	.	292	Q13616	CUL1_HUMAN	K	292;292;250;219	ENSP00000387160:E292K;ENSP00000326804:E292K	ENSP00000326804:E292K	E	+	1	0	CUL1	148094670	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.506000	0.97992	2.370000	0.80446	0.655000	0.94253	GAA		0.378	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	NM_003592		12	72	0	0	0	0	12	72				
ZNF786	136051	broad.mit.edu	37	7	148767536	148767536	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:148767536C>G	ENST00000491431.1	-	4	2392	c.2328G>C	c.(2326-2328)atG>atC	p.M776I	ZNF786_ENST00000451334.3_Missense_Mutation_p.M739I|ZNF786_ENST00000316286.9_Missense_Mutation_p.M690I	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	776					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CGGCCTCTATCATTGCAAACA	0.498																																						uc003wfh.2		NA																	0				breast(3)|skin(1)	4						c.(2326-2328)ATG>ATC		zinc finger protein 786							279.0	271.0	274.0					7																	148767536		2002	4181	6183	SO:0001583	missense	136051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148767536C>G	AK095701, AL834510	CCDS47738.1	7q36.1	2013-01-08			ENSG00000197362	ENSG00000197362		"""Zinc fingers, C2H2-type"", ""-"""	21806	protein-coding gene	gene with protein product							Standard	NM_152411		Approved	DKFZp762I137	uc003wfh.2	Q8N393	OTTHUMG00000158975	ENST00000491431.1:c.2328G>C	7.37:g.148767536C>G	ENSP00000417470:p.Met776Ile					ZNF786_uc011kuk.1_Missense_Mutation_p.M739I|ZNF786_uc003wfi.2_Missense_Mutation_p.M690I	p.M776I	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	2465	-	Melanoma(164;0.15)		776					A1A568|B4DMI1	Missense_Mutation	SNP	ENST00000491431.1	37	c.2328G>C	CCDS47738.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.489152	0.44249	.	.	ENSG00000197362	ENST00000316286;ENST00000491431;ENST00000451334	T;T;T	0.07444	3.19;3.33;3.25	4.62	2.62	0.31277	.	0.000000	0.41823	D	0.000801	T	0.04998	0.0134	N	0.22421	0.69	0.09310	N	1	B	0.28636	0.218	B	0.25759	0.063	T	0.31971	-0.9924	10	0.87932	D	0	-13.6151	4.2714	0.10789	0.2286:0.6516:0.0:0.1198	.	776	Q8N393	ZN786_HUMAN	I	690;776;739	ENSP00000313516:M690I;ENSP00000417470:M776I;ENSP00000404984:M739I	ENSP00000313516:M690I	M	-	3	0	ZNF786	148398469	0.737000	0.28175	0.911000	0.35937	0.536000	0.34869	1.822000	0.39052	1.162000	0.42619	0.591000	0.81541	ATG		0.498	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352751.1	NM_152411		42	495	0	0	0	0	42	495				
AGAP3	116988	broad.mit.edu	37	7	150815687	150815687	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:150815687G>A	ENST00000463381.1	+	7	749	c.253G>A	c.(253-255)Gcc>Acc	p.A85T	AGAP3_ENST00000397238.2_Missense_Mutation_p.A313T|AGAP3_ENST00000473312.1_Missense_Mutation_p.A313T|AGAP3_ENST00000335367.3_Missense_Mutation_p.A493T|AGAP3_ENST00000479901.1_Missense_Mutation_p.A313T	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	277	Small GTPase-like.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GGCCGTGTCCGCCGCCTCCAT	0.662																																						uc003wjg.1		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(937-939)GCC>ACC		centaurin, gamma 3 isoform a							56.0	69.0	65.0					7																	150815687		2165	4250	6415	SO:0001583	missense	116988				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	g.chr7:150815687G>A	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.253G>A	7.37:g.150815687G>A	ENSP00000418016:p.Ala85Thr					AGAP3_uc003wje.1_Missense_Mutation_p.A85T|AGAP3_uc003wjf.1_Missense_Mutation_p.A313T|AGAP3_uc010lpy.1_Missense_Mutation_p.A313T|AGAP3_uc003wjh.1_Missense_Mutation_p.A493T|AGAP3_uc003wji.1_5'Flank	p.A313T	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN			7	940	+			277			Small GTPase-like.		B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	ENST00000463381.1	37	c.937G>A		.	.	.	.	.	.	.	.	.	.	g	8.246	0.807961	0.16467	.	.	ENSG00000133612	ENST00000463381;ENST00000473312;ENST00000479901;ENST00000397238;ENST00000335355;ENST00000335367;ENST00000468796	T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42	3.67	2.78	0.32641	.	0.380655	0.23844	N	0.044005	T	0.12092	0.0294	N	0.14661	0.345	0.39872	D	0.973524	B;B;B;B;B	0.28783	0.04;0.023;0.005;0.04;0.222	B;B;B;B;B	0.15484	0.004;0.003;0.002;0.004;0.013	T	0.11251	-1.0595	10	0.08599	T	0.76	.	5.5735	0.17210	0.1036:0.0:0.7016:0.1949	.	313;493;313;313;85	C9J975;E7ESL9;Q96P47-4;E9PAL8;B3KNZ8	.;.;.;.;.	T	85;313;313;313;277;493;78	ENSP00000418016:A85T;ENSP00000418921:A313T;ENSP00000418125:A313T;ENSP00000380413:A313T;ENSP00000335589:A493T;ENSP00000418159:A78T	ENSP00000334157:A277T	A	+	1	0	AGAP3	150446620	0.051000	0.20477	0.914000	0.36105	0.255000	0.26057	0.636000	0.24644	0.761000	0.33130	0.306000	0.20318	GCC		0.662	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2	NM_031946		10	148	0	0	0	0	10	148				
SMARCD3	6604	broad.mit.edu	37	7	150945607	150945607	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:150945607C>T	ENST00000262188.8	-	1	452	c.42G>A	c.(40-42)acG>acA	p.T14T	SMARCD3_ENST00000477169.1_Intron|SMARCD3_ENST00000356800.2_Intron|RP5-1070G24.2_ENST00000466775.1_RNA|SMARCD3_ENST00000392811.2_Intron	NM_001003801.1	NP_001003801.1	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	14					cardiac right ventricle formation (GO:0003219)|cellular lipid metabolic process (GO:0044255)|chromatin remodeling (GO:0006338)|muscle cell differentiation (GO:0042692)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein binding (GO:0043393)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|secondary heart field specification (GO:0003139)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|receptor binding (GO:0005102)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTTTGCTTTTCGTGGCTTTGC	0.592																																						uc003wjs.2		NA																	0				ovary(1)|lung(1)	2						c.(40-42)ACG>ACA		SWI/SNF related, matrix associated, actin							90.0	87.0	88.0					7																	150945607		2203	4300	6503	SO:0001819	synonymous_variant	6604				cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding	g.chr7:150945607C>T	U66619	CCDS5924.1, CCDS34780.1	7q35-q36	2008-07-18			ENSG00000082014	ENSG00000082014			11108	protein-coding gene	gene with protein product	"""mammalian chromatin remodeling complex BRG1-associated factor 60C"", ""Swp73-like protein"", ""SWI/SNF complex 60 kDa subunit C"", ""60kDa BRG-1/Brm associated factor subunit c"""	601737				8804307, 9693044	Standard	NM_001003801		Approved	BAF60C, Rsc6p, CRACD3	uc003wjs.3	Q6STE5	OTTHUMG00000157431	ENST00000262188.8:c.42G>A	7.37:g.150945607C>T						SMARCD3_uc003wjt.2_Intron|SMARCD3_uc003wju.2_Intron|SMARCD3_uc011kvh.1_Silent_p.T14T|SMARCD3_uc010lqa.1_Silent_p.T14T	p.T14T	NM_001003801	NP_001003801	Q6STE5	SMRD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	1	143	-			14					D3DX10|Q2YD86|Q75MJ2|Q75MR8|Q92926|Q9BUH1	Silent	SNP	ENST00000262188.8	37	c.42G>A	CCDS34780.1																																																																																				0.592	SMARCD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348825.1	NM_001003801		23	184	0	0	0	0	23	184				
KMT2C	58508	broad.mit.edu	37	7	151884562	151884562	+	Splice_Site	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:151884562C>A	ENST00000262189.6	-	33	5012		c.e33-1		KMT2C_ENST00000355193.2_Splice_Site	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C						histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ATTTTTATCCCTGGGAAAAAA	0.313																																						uc003wla.2		NA								N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.e33-1		myeloid/lymphoid or mixed-lineage leukemia 3							87.0	93.0	91.0					7																	151884562		2203	4300	6503	SO:0001630	splice_region_variant	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151884562C>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.4794-1G>T	7.37:g.151884562C>A						MLL3_uc003wkz.2_Splice_Site_p.R659_splice	p.R1598_splice	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	33	5013	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)						Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Splice_Site	SNP	ENST00000262189.6	37	c.4794_splice	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.592486	0.66219	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0219	0.97506	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MLL3	151515495	1.000000	0.71417	1.000000	0.80357	0.587000	0.36485	6.806000	0.75195	2.798000	0.96311	0.579000	0.79373	.		0.313	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		Intron	25	197	1	0	6.36e-07	6.74e-07	25	197				
ESYT2	57488	broad.mit.edu	37	7	158557391	158557391	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:158557391G>C	ENST00000251527.5	-	9	1287	c.1222C>G	c.(1222-1224)Cca>Gca	p.P408A		NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	436	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				endocytosis (GO:0006897)|lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						TTCCACTTTGGACTGAGGTTC	0.512																																						uc003wob.1		NA																	0				central_nervous_system(2)|kidney(1)	3						c.(1222-1224)CCA>GCA		family with sequence similarity 62 (C2 domain							159.0	152.0	154.0					7																	158557391		2203	4300	6503	SO:0001583	missense	57488					integral to membrane|plasma membrane		g.chr7:158557391G>C	AB033054	CCDS34791.1	7q36.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000117868	ENSG00000117868		"""Synaptotagmins"""	22211	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member B"""	FAM62B		17672888	Standard	NM_020728		Approved	KIAA1228, CHR2SYT	uc003wob.1	A0FGR8	OTTHUMG00000151436	ENST00000251527.5:c.1222C>G	7.37:g.158557391G>C	ENSP00000251527:p.Pro408Ala					ESYT2_uc003woc.1_Missense_Mutation_p.P232A|ESYT2_uc003wod.1_Missense_Mutation_p.P408A|ESYT2_uc003woa.1_5'Flank	p.P408A	NM_020728	NP_065779	A0FGR8	ESYT2_HUMAN			9	1288	-			436			C2 1.		A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2	Missense_Mutation	SNP	ENST00000251527.5	37	c.1222C>G	CCDS34791.1	.	.	.	.	.	.	.	.	.	.	G	31	5.092129	0.94149	.	.	ENSG00000117868	ENST00000251527;ENST00000421679;ENST00000275418;ENST00000429474	D;D	0.91124	-2.79;-2.79	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.97455	0.9167	H	0.98005	4.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98512	1.0619	10	0.87932	D	0	-20.5039	19.0512	0.93046	0.0:0.0:1.0:0.0	.	436;408	A0FGR8-6;A0FGR8-2	.;.	A	408;436;378;232	ENSP00000251527:P408A;ENSP00000275418:P378A	ENSP00000251527:P408A	P	-	1	0	ESYT2	158250152	1.000000	0.71417	0.990000	0.47175	0.991000	0.79684	9.654000	0.98509	2.735000	0.93741	0.655000	0.94253	CCA		0.512	ESYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322647.1	NM_020728		18	251	0	0	0	0	18	251				
TUSC3	7991	broad.mit.edu	37	8	15480730	15480730	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:15480730C>T	ENST00000503731.1	+	2	428	c.280C>T	c.(280-282)Cag>Tag	p.Q94*	TUSC3_ENST00000509380.1_Nonsense_Mutation_p.Q94*|TUSC3_ENST00000503191.1_3'UTR|TUSC3_ENST00000506802.1_Nonsense_Mutation_p.Q94*|TUSC3_ENST00000382020.4_Nonsense_Mutation_p.Q94*	NM_006765.3	NP_006756.2	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	94	Thioredoxin.				cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		CACTGCTCTTCAGCCTCAGCG	0.323																																						uc003wwt.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(280-282)CAG>TAG		tumor suppressor candidate 3 isoform a							82.0	81.0	82.0					8																	15480730		2203	4300	6503	SO:0001587	stop_gained	7991				cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		g.chr8:15480730C>T	AK026149	CCDS5993.1, CCDS5994.1	8p22	2010-10-22			ENSG00000104723	ENSG00000104723			30242	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 3 homolog A (S. cerevisiae)"""	601385				8661104, 10097140	Standard	NM_178234		Approved	MGC13453, N33, OST3A, MRT7	uc003wwt.3	Q13454	OTTHUMG00000094803	ENST00000503731.1:c.280C>T	8.37:g.15480730C>T	ENSP00000424544:p.Gln94*					TUSC3_uc003wwr.2_Nonsense_Mutation_p.Q94*|TUSC3_uc003wws.2_Nonsense_Mutation_p.Q94*|TUSC3_uc003wwu.2_Nonsense_Mutation_p.Q94*|TUSC3_uc003wwv.2_Nonsense_Mutation_p.Q94*|TUSC3_uc003www.2_Nonsense_Mutation_p.Q94*|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Nonsense_Mutation_p.Q94*	p.Q94*	NM_006765	NP_006756	Q13454	TUSC3_HUMAN		Colorectal(111;0.113)	2	490	+			94					A8MSM0|D3DSP2|Q14911|Q14912|Q96FW0	Nonsense_Mutation	SNP	ENST00000503731.1	37	c.280C>T	CCDS5994.1	.	.	.	.	.	.	.	.	.	.	C	40	8.127683	0.98667	.	.	ENSG00000104723	ENST00000382020;ENST00000506802;ENST00000509380;ENST00000503731	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-15.3803	18.9566	0.92661	0.0:1.0:0.0:0.0	.	.	.	.	X	94	.	ENSP00000221167:Q94X	Q	+	1	0	TUSC3	15525101	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.426000	0.80270	2.804000	0.96469	0.650000	0.86243	CAG		0.323	TUSC3-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365367.1	NM_006765		14	166	0	0	0	0	14	166				
PSD3	23362	broad.mit.edu	37	8	18729698	18729698	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:18729698G>A	ENST00000327040.8	-	3	778	c.676C>T	c.(676-678)Cag>Tag	p.Q226*	PSD3_ENST00000523619.1_Nonsense_Mutation_p.Q161*|PSD3_ENST00000440756.2_Nonsense_Mutation_p.Q226*	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	226					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ATCTCTGCCTGAGTGTCTCCA	0.473																																						uc003wza.2		NA																	0				ovary(3)	3						c.(676-678)CAG>TAG		ADP-ribosylation factor guanine nucleotide							102.0	99.0	100.0					8																	18729698		1908	4119	6027	SO:0001587	stop_gained	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18729698G>A	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.676C>T	8.37:g.18729698G>A	ENSP00000324127:p.Gln226*						p.Q226*	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	3	779	-			226					A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Nonsense_Mutation	SNP	ENST00000327040.8	37	c.676C>T	CCDS43720.1	.	.	.	.	.	.	.	.	.	.	G	38	6.880984	0.97908	.	.	ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000523619	.	.	.	6.06	5.19	0.71726	.	0.991334	0.08195	N	0.983160	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	12.9	0.58121	0.0777:0.0:0.9223:0.0	.	.	.	.	X	226;226;161	.	ENSP00000324127:Q226X	Q	-	1	0	PSD3	18773978	1.000000	0.71417	0.305000	0.25099	0.854000	0.48673	3.738000	0.55067	1.579000	0.49836	0.655000	0.94253	CAG		0.473	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		16	209	0	0	0	0	16	209				
CCAR2	57805	broad.mit.edu	37	8	22464808	22464808	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:22464808C>G	ENST00000308511.4	+	6	706	c.457C>G	c.(457-459)Cac>Gac	p.H153D	CCAR2_ENST00000389279.3_Missense_Mutation_p.H153D|CCAR2_ENST00000520861.1_5'UTR			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2	153					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)										CTTCCAGCCTCACCGGATTCC	0.552																																						uc003xch.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(457-459)CAC>GAC		p30 DBC protein							82.0	68.0	73.0					8																	22464808		2203	4300	6503	SO:0001583	missense	57805				apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity	g.chr8:22464808C>G	AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941			23360	protein-coding gene	gene with protein product	"""deleted in breast cancer"""	607359	"""KIAA1967"""	KIAA1967		12370419	Standard	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.457C>G	8.37:g.22464808C>G	ENSP00000310670:p.His153Asp					KIAA1967_uc003xci.2_Missense_Mutation_p.H153D|KIAA1967_uc003xcj.1_5'UTR	p.H153D	NM_199205	NP_954675	Q8N163	K1967_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)	6	594	+		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)	153					A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	Missense_Mutation	SNP	ENST00000308511.4	37	c.457C>G	CCDS34863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.05|17.05	3.290291|3.290291	0.59976|0.59976	.|.	.|.	ENSG00000158941|ENSG00000158941	ENST00000308511;ENST00000389279;ENST00000523349|ENST00000523801;ENST00000518989	T;T|.	0.29142|.	1.58;1.58|.	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	0.066227|.	0.64402|.	D|.	0.000011|.	T|.	0.54711|.	0.1875|.	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	B|.	0.23058|.	0.079|.	B|.	0.25140|.	0.058|.	T|.	0.47381|.	-0.9122|.	10|.	0.09843|.	T|.	0.71|.	-25.3158|-25.3158	17.3388|17.3388	0.87289|0.87289	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	153|.	Q8N163|.	K1967_HUMAN|.	D|X	153|160;105	ENSP00000310670:H153D;ENSP00000373930:H153D|.	ENSP00000310670:H153D|.	H|S	+|+	1|2	0|0	KIAA1967|KIAA1967	22520753|22520753	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.156000|3.156000	0.50708|0.50708	2.832000|2.832000	0.97577|0.97577	0.655000|0.655000	0.94253|0.94253	CAC|TCA		0.552	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375865.1	NM_021174		5	63	0	0	0	0	5	63				
DOCK5	80005	broad.mit.edu	37	8	25250378	25250378	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:25250378G>C	ENST00000276440.7	+	44	4551	c.4507G>C	c.(4507-4509)Gaa>Caa	p.E1503Q		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1503	DHR-2.				positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CAAGTGGTTTGAAGTCAAACA	0.388																																					Pancreas(145;34 1887 3271 10937 30165)	uc003xeg.2		NA																	0				ovary(3)	3						c.(4507-4509)GAA>CAA		dedicator of cytokinesis 5							93.0	73.0	80.0					8																	25250378		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25250378G>C		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.4507G>C	8.37:g.25250378G>C	ENSP00000276440:p.Glu1503Gln					PPP2R2A_uc003xek.2_Intron|DOCK5_uc003xei.2_Missense_Mutation_p.E1073Q|DOCK5_uc003xej.2_RNA	p.E1503Q	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	44	4644	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	1503			DHR-2.		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.4507G>C	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.657514	0.88154	.	.	ENSG00000147459	ENST00000276440	T	0.18016	2.24	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.45094	0.1325	M	0.78285	2.405	0.80722	D	1	D;D	0.76494	0.98;0.999	P;D	0.75020	0.875;0.985	T	0.41787	-0.9489	10	0.52906	T	0.07	.	18.8353	0.92159	0.0:0.0:1.0:0.0	.	1493;1503	D3DSS6;Q9H7D0	.;DOCK5_HUMAN	Q	1503	ENSP00000276440:E1503Q	ENSP00000276440:E1503Q	E	+	1	0	DOCK5	25306295	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	9.797000	0.99108	2.510000	0.84645	0.650000	0.86243	GAA		0.388	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		3	34	0	0	0	0	3	34				
XKR4	114786	broad.mit.edu	37	8	56435944	56435944	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:56435944G>A	ENST00000327381.6	+	3	1211	c.1111G>A	c.(1111-1113)Gcc>Acc	p.A371T	RP11-628E19.2_ENST00000522918.1_RNA	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	371						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CAGCTACATGGCCGTCATCAT	0.587																																						uc003xsf.2		NA																	0				pancreas(2)	2						c.(1111-1113)GCC>ACC		XK, Kell blood group complex subunit-related							233.0	182.0	199.0					8																	56435944		2203	4300	6503	SO:0001583	missense	114786					integral to membrane		g.chr8:56435944G>A	AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.1111G>A	8.37:g.56435944G>A	ENSP00000328326:p.Ala371Thr						p.A371T	NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		3	1143	+			371			Helical; (Potential).		Q96PZ8	Missense_Mutation	SNP	ENST00000327381.6	37	c.1111G>A	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.901575	0.92035	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	T	0.65732	-0.17	5.56	5.56	0.83823	.	0.049605	0.85682	D	0.000000	T	0.79604	0.4474	M	0.69523	2.12	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.80670	-0.1279	10	0.66056	D	0.02	-15.6001	19.531	0.95230	0.0:0.0:1.0:0.0	.	371	Q5GH76	XKR4_HUMAN	T	371	ENSP00000328326:A371T	ENSP00000328326:A371T	A	+	1	0	XKR4	56598498	1.000000	0.71417	0.998000	0.56505	0.950000	0.60333	9.869000	0.99810	2.614000	0.88457	0.557000	0.71058	GCC		0.587	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		8	121	0	0	0	0	8	121				
FAM110B	90362	broad.mit.edu	37	8	59059120	59059120	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:59059120G>A	ENST00000361488.3	+	5	1211	c.331G>A	c.(331-333)Gtg>Atg	p.V111M	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	111						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				CGAGAGCGGCGTGCAGAGGGA	0.652																																						uc003xtj.1		NA																	0				large_intestine(1)	1						c.(331-333)GTG>ATG		hypothetical protein LOC90362							36.0	36.0	36.0					8																	59059120		2203	4300	6503	SO:0001583	missense	90362					microtubule organizing center|mitochondrion|nucleus		g.chr8:59059120G>A	U79298	CCDS6170.1	8q12.1	2007-06-21	2007-03-21	2007-03-21		ENSG00000169122			28587	protein-coding gene	gene with protein product		611394	"""chromosome 8 open reading frame 72"""	C8orf72		8619474, 9110174, 17499476	Standard	XM_005251324		Approved	MGC39325	uc003xtj.1	Q8TC76		ENST00000361488.3:c.331G>A	8.37:g.59059120G>A	ENSP00000355204:p.Val111Met						p.V111M	NM_147189	NP_671722	Q8TC76	F110B_HUMAN			5	1211	+		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)	111					Q5BM08|Q9Y4K2	Missense_Mutation	SNP	ENST00000361488.3	37	c.331G>A	CCDS6170.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.305600	0.40795	.	.	ENSG00000169122	ENST00000361488	T	0.46063	0.88	5.39	3.57	0.40892	.	0.396735	0.27971	N	0.017107	T	0.31420	0.0796	N	0.22421	0.69	0.36323	D	0.858409	D	0.54207	0.965	P	0.45406	0.479	T	0.29941	-0.9995	9	.	.	.	-17.0652	11.9501	0.52950	0.144:0.0:0.856:0.0	.	111	Q8TC76	F110B_HUMAN	M	111	ENSP00000355204:V111M	.	V	+	1	0	FAM110B	59221674	1.000000	0.71417	0.997000	0.53966	0.759000	0.43091	3.431000	0.52814	1.268000	0.44264	0.455000	0.32223	GTG		0.652	FAM110B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378095.2	NM_147189		8	53	0	0	0	0	8	53				
VCPIP1	80124	broad.mit.edu	37	8	67578144	67578144	+	Silent	SNP	G	G	A	rs117246146		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:67578144G>A	ENST00000310421.4	-	1	1308	c.1050C>T	c.(1048-1050)tcC>tcT	p.S350S	C8orf44_ENST00000519561.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank|C8orf44_ENST00000521889.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	350	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			GGTTTCTACCGGAGCTGCTCC	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		21589	0.0		0.001	False		,,,				2504	0.0				NSCLC(179;265 2915 6144 43644)	uc003xwn.2		NA																	0				lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8						c.(1048-1050)TCC>TCT		valosin containing protein (p97)/p47 complex		G		0,4406		0,0,2203	88.0	89.0	89.0		1050	2.2	1.0	8	dbSNP_133	89	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	VCPIP1	NM_025054.4		0,5,6498	AA,AG,GG		0.0581,0.0,0.0384		350/1223	67578144	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67578144G>A	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.1050C>T	8.37:g.67578144G>A						SGK3_uc003xwp.2_5'Flank|C8orf44_uc003xwo.1_5'Flank	p.S350S	NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		1	1309	-		Lung NSC(129;0.142)|all_lung(136;0.227)	350			OTU.		Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Silent	SNP	ENST00000310421.4	37	c.1050C>T	CCDS6192.1																																																																																				0.483	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			19	218	0	0	0	0	19	218				
PREX2	80243	broad.mit.edu	37	8	69103989	69103989	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:69103989C>G	ENST00000288368.4	+	36	4656	c.4379C>G	c.(4378-4380)cCa>cGa	p.P1460R		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1460					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.P1460Q(1)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AATTCACCACCAAACTCCACA	0.313																																						uc003xxv.1		NA																	1	Substitution - Missense(1)		large_intestine(1)	skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						c.(4378-4380)CCA>CGA		DEP domain containing 2 isoform a							105.0	105.0	105.0					8																	69103989		2203	4300	6503	SO:0001583	missense	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:69103989C>G	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.4379C>G	8.37:g.69103989C>G	ENSP00000288368:p.Pro1460Arg						p.P1460R	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN			36	4406	+			1460					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.4379C>G	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.648884	0.47362	.	.	ENSG00000046889	ENST00000288368	T	0.58506	0.33	5.48	5.48	0.80851	.	0.120771	0.56097	D	0.000026	T	0.46328	0.1387	N	0.19112	0.55	0.46028	D	0.998821	B	0.30763	0.294	B	0.28709	0.093	T	0.47497	-0.9113	10	0.59425	D	0.04	.	18.7115	0.91658	0.0:1.0:0.0:0.0	.	1460	Q70Z35	PREX2_HUMAN	R	1460	ENSP00000288368:P1460R	ENSP00000288368:P1460R	P	+	2	0	PREX2	69266543	0.996000	0.38824	0.985000	0.45067	0.984000	0.73092	5.662000	0.68032	2.729000	0.93468	0.650000	0.86243	CCA		0.313	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		9	134	0	0	0	0	9	134				
JPH1	56704	broad.mit.edu	37	8	75227552	75227552	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:75227552G>T	ENST00000342232.4	-	2	723	c.683C>A	c.(682-684)tCc>tAc	p.S228Y		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	228	Ser-rich.				calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GGAAGACTTGGATTCGGACTT	0.577																																						uc003yae.2		NA																	0				ovary(1)	1						c.(682-684)TCC>TAC		junctophilin 1							73.0	79.0	77.0					8																	75227552		2203	4300	6503	SO:0001583	missense	56704				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr8:75227552G>T	AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.683C>A	8.37:g.75227552G>T	ENSP00000344488:p.Ser228Tyr					JPH1_uc003yaf.2_Missense_Mutation_p.S228Y|JPH1_uc003yag.1_Missense_Mutation_p.S92Y	p.S228Y	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		2	723	-	Breast(64;0.00576)		228			Cytoplasmic (Potential).|Ser-rich.		B2RTZ0	Missense_Mutation	SNP	ENST00000342232.4	37	c.683C>A	CCDS6217.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.977012	0.53720	.	.	ENSG00000104369	ENST00000342232	T	0.66099	-0.19	4.89	4.01	0.46588	.	0.056646	0.64402	N	0.000001	T	0.64170	0.2574	M	0.78456	2.415	0.80722	D	1	B	0.20887	0.049	B	0.17433	0.018	T	0.66472	-0.5915	10	0.72032	D	0.01	.	14.6516	0.68800	0.0:0.0:0.8535:0.1465	.	228	Q9HDC5	JPH1_HUMAN	Y	228	ENSP00000344488:S228Y	ENSP00000344488:S228Y	S	-	2	0	JPH1	75390107	1.000000	0.71417	0.999000	0.59377	0.388000	0.30384	9.587000	0.98229	1.247000	0.43917	-0.182000	0.12963	TCC		0.577	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1			20	145	1	0	1.96e-10	2.13e-10	20	145				
OTUD6B	51633	broad.mit.edu	37	8	92083441	92083441	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:92083441C>T	ENST00000285420.4	+	2	347	c.248C>T	c.(247-249)gCc>gTc	p.A83V	OTUD6B_ENST00000404789.3_5'UTR|GS1-251I9.4_ENST00000522817.1_RNA|GS1-251I9.4_ENST00000524003.1_RNA	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	53							cysteine-type peptidase activity (GO:0008234)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			GAAGATGTGGCCAAGTTGGAA	0.393																																						uc003yeu.3		NA																	0				ovary(2)|lung(1)	3						c.(247-249)GCC>GTC		OTU domain containing 6B							129.0	124.0	126.0					8																	92083441		2203	4300	6503	SO:0001583	missense	51633							g.chr8:92083441C>T		CCDS6253.2, CCDS69513.1	8q21.3	2013-01-21			ENSG00000155100	ENSG00000155100		"""OTU domain containing"""	24281	protein-coding gene	gene with protein product		612021					Standard	NM_016023		Approved	CGI-77, DUBA5	uc003yeu.4	Q8N6M0	OTTHUMG00000150758	ENST00000285420.4:c.248C>T	8.37:g.92083441C>T	ENSP00000285420:p.Ala83Val					uc003yet.2_5'Flank|OTUD6B_uc011lgh.1_5'UTR	p.A83V	NM_016023	NP_057107	Q8N6M0	OTU6B_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0187)		2	347	+			53					A8K6I1|B4DEY0|Q9NTA4|Q9Y387	Missense_Mutation	SNP	ENST00000285420.4	37	c.248C>T	CCDS6253.2	.	.	.	.	.	.	.	.	.	.	C	17.66	3.443909	0.63067	.	.	ENSG00000155100	ENST00000285420	D	0.95482	-3.72	5.73	4.85	0.62838	.	0.156699	0.56097	D	0.000028	D	0.96078	0.8722	M	0.81179	2.53	0.80722	D	1	P	0.47677	0.899	P	0.47299	0.543	D	0.95728	0.8772	10	0.52906	T	0.07	-4.6656	16.2244	0.82284	0.1339:0.8661:0.0:0.0	.	53	Q8N6M0	OTU6B_HUMAN	V	83	ENSP00000285420:A83V	ENSP00000285420:A83V	A	+	2	0	OTUD6B	92152617	1.000000	0.71417	0.967000	0.41034	0.003000	0.03518	7.163000	0.77524	1.416000	0.47057	0.561000	0.74099	GCC		0.393	OTUD6B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000319968.1	NM_016023		18	96	0	0	0	0	18	96				
CSMD3	114788	broad.mit.edu	37	8	113317138	113317138	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:113317138G>A	ENST00000297405.5	-	52	8322	c.8078C>T	c.(8077-8079)aCa>aTa	p.T2693I	CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Missense_Mutation_p.T2623I|CSMD3_ENST00000343508.3_Missense_Mutation_p.T2653I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2693	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GCTTGGACATGTAACAACTAT	0.363										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(8077-8079)ACA>ATA		CUB and Sushi multiple domains 3 isoform 1							60.0	52.0	55.0					8																	113317138		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113317138G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.8078C>T	8.37:g.113317138G>A	ENSP00000297405:p.Thr2693Ile	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.T1895I|CSMD3_uc003ynt.2_Missense_Mutation_p.T2653I|CSMD3_uc011lhx.1_Intron	p.T2693I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			52	8237	-			2693			Extracellular (Potential).|Sushi 16.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.8078C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.109605	0.56398	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000352409	T;T;T;T	0.24538	1.85;1.85;1.85;1.85	5.18	5.18	0.71444	Complement control module (3);Sushi/SCR/CCP (1);	0.161766	0.40469	N	0.001095	T	0.41166	0.1147	L	0.56340	1.77	0.46437	D	0.999045	B;P	0.45957	0.212;0.869	B;P	0.53649	0.071;0.731	T	0.04551	-1.0943	10	0.33940	T	0.23	.	19.0673	0.93116	0.0:0.0:1.0:0.0	.	2693;2653	Q7Z407;Q7Z407-2	CSMD3_HUMAN;.	I	2653;2693;1963;2623	ENSP00000345799:T2653I;ENSP00000297405:T2693I;ENSP00000341558:T1963I;ENSP00000343124:T2623I	ENSP00000297405:T2693I	T	-	2	0	CSMD3	113386314	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.595000	0.82710	2.547000	0.85894	0.655000	0.94253	ACA		0.363	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		6	46	0	0	0	0	6	46				
CSMD3	114788	broad.mit.edu	37	8	113318368	113318368	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:113318368C>A	ENST00000297405.5	-	51	8183	c.7939G>T	c.(7939-7941)Gac>Tac	p.D2647Y	CSMD3_ENST00000455883.2_Missense_Mutation_p.D2543Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.D2577Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.D2607Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2647	Sushi 15. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACCAAATAGTCTGTTGTTAGT	0.368										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(7939-7941)GAC>TAC		CUB and Sushi multiple domains 3 isoform 1							132.0	119.0	123.0					8																	113318368		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113318368C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7939G>T	8.37:g.113318368C>A	ENSP00000297405:p.Asp2647Tyr	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.D1849Y|CSMD3_uc003ynt.2_Missense_Mutation_p.D2607Y|CSMD3_uc011lhx.1_Missense_Mutation_p.D2543Y	p.D2647Y	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			51	8098	-			2647			Extracellular (Potential).|Sushi 15.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.7939G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.708890	0.89018	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73	5.53	5.53	0.82687	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	T	0.53206	0.1782	M	0.70108	2.13	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.76071	0.978;0.987;0.964	T	0.54563	-0.8275	10	0.72032	D	0.01	.	19.4468	0.94851	0.0:1.0:0.0:0.0	.	2543;2647;2607	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Y	2607;2647;1917;2543;2577	ENSP00000345799:D2607Y;ENSP00000297405:D2647Y;ENSP00000341558:D1917Y;ENSP00000412263:D2543Y;ENSP00000343124:D2577Y	ENSP00000297405:D2647Y	D	-	1	0	CSMD3	113387544	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.792000	0.85828	2.591000	0.87537	0.557000	0.71058	GAC		0.368	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		10	121	1	0	0.00621372	0.0063077	10	121				
ENPP2	5168	broad.mit.edu	37	8	120569896	120569896	+	Silent	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:120569896G>C	ENST00000075322.6	-	25	2515	c.2457C>G	c.(2455-2457)ctC>ctG	p.L819L	ENPP2_ENST00000259486.6_Silent_p.L871L|ENPP2_ENST00000427067.2_Silent_p.L840L|ENPP2_ENST00000522826.1_Silent_p.L844L|ENPP2_ENST00000522167.1_Silent_p.L454L	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	819					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GCATCTTCATGAGTTCTTCTA	0.463																																					Melanoma(20;305 879 2501 4818 31020)	uc003yot.1		NA																	0				ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7						c.(2455-2457)CTC>CTG		autotaxin isoform 2 preproprotein							203.0	183.0	189.0					8																	120569896		2203	4300	6503	SO:0001819	synonymous_variant	5168				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120569896G>C	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.2457C>G	8.37:g.120569896G>C						ENPP2_uc011lic.1_Silent_p.L357L|ENPP2_uc003yor.1_Silent_p.L454L|ENPP2_uc003yos.1_Silent_p.L871L|ENPP2_uc010mdd.1_Silent_p.L844L	p.L819L	NM_001040092	NP_001035181	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		25	2543	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		819					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Silent	SNP	ENST00000075322.6	37	c.2457C>G	CCDS34936.1																																																																																				0.463	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			22	203	0	0	0	0	22	203				
TAF2	6873	broad.mit.edu	37	8	120772953	120772953	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:120772953G>A	ENST00000378164.2	-	20	2882	c.2584C>T	c.(2584-2586)Cag>Tag	p.Q862*	TAF2_ENST00000519355.1_5'UTR	NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	862					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CCGTTCTTCTGAAGTACCCGT	0.393																																						uc003you.2		NA																	0				large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6						c.(2584-2586)CAG>TAG		TBP-associated factor 2							129.0	121.0	124.0					8																	120772953		2203	4300	6503	SO:0001587	stop_gained	6873				G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:120772953G>A	AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"""	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.2584C>T	8.37:g.120772953G>A	ENSP00000367406:p.Gln862*						p.Q862*	NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		20	2854	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		862					B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Nonsense_Mutation	SNP	ENST00000378164.2	37	c.2584C>T	CCDS34937.1	.	.	.	.	.	.	.	.	.	.	G	44	10.790522	0.99468	.	.	ENSG00000064313	ENST00000378164	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-30.1377	20.8598	0.99761	0.0:0.0:1.0:0.0	.	.	.	.	X	862	.	ENSP00000367406:Q862X	Q	-	1	0	TAF2	120842134	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	9.743000	0.98849	2.937000	0.99478	0.650000	0.86243	CAG		0.393	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184		24	171	0	0	0	0	24	171				
ZHX1	11244	broad.mit.edu	37	8	124266008	124266008	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:124266008G>C	ENST00000522655.1	-	3	2719	c.2179C>G	c.(2179-2181)Cag>Gag	p.Q727E	ZHX1_ENST00000395571.3_Missense_Mutation_p.Q727E|ZHX1_ENST00000297857.2_Missense_Mutation_p.Q727E|ZHX1_ENST00000522595.1_5'Flank|ZHX1-C8ORF76_ENST00000357082.4_Intron			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	727					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TTGGCGCTCTGATAGTAGTAG	0.502																																						uc003yqe.2		NA																	0				ovary(1)	1						c.(2179-2181)CAG>GAG		zinc fingers and homeoboxes 1							116.0	104.0	108.0					8																	124266008		2203	4300	6503	SO:0001583	missense	11244				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:124266008G>C	AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	12871	protein-coding gene	gene with protein product		604764	"""zinc-fingers and homeoboxes 1"""			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.2179C>G	8.37:g.124266008G>C	ENSP00000428821:p.Gln727Glu					C8orf76_uc003yqd.2_Intron|ZHX1_uc003yqf.2_Missense_Mutation_p.Q727E|ZHX1_uc003yqg.2_Intron|ZHX1_uc010mdi.2_Missense_Mutation_p.Q727E	p.Q727E	NM_007222	NP_009153	Q9UKY1	ZHX1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	2609	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		727					Q8IWD8	Missense_Mutation	SNP	ENST00000522655.1	37	c.2179C>G	CCDS6342.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.398969|4.398969	0.83120|0.83120	.|.	.|.	ENSG00000165156|ENSG00000165156	ENST00000520474|ENST00000297857;ENST00000395571;ENST00000522655	.|D;D;D	.|0.91631	.|-2.88;-2.88;-2.88	6.04|6.04	6.04|6.04	0.98038|0.98038	.|Homeodomain-related (1);Homeodomain-like (1);	.|0.059575	.|0.64402	.|D	.|0.000002	D|D	0.94029|0.94029	0.8087|0.8087	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.55605	.|0.972	.|P	.|0.51615	.|0.675	D|D	0.92735|0.92735	0.6203|0.6203	4|9	.|0.41790	.|T	.|0.15	-15.0086|-15.0086	20.5792|20.5792	0.99380|0.99380	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|727	.|Q9UKY1	.|ZHX1_HUMAN	M|E	411|727	.|ENSP00000297857:Q727E;ENSP00000378938:Q727E;ENSP00000428821:Q727E	.|ENSP00000297857:Q727E	I|Q	-|-	3|1	3|0	ZHX1|ZHX1	124335189|124335189	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.954000|0.954000	0.61252|0.61252	9.090000|9.090000	0.94144|0.94144	2.873000|2.873000	0.98535|0.98535	0.561000|0.561000	0.74099|0.74099	ATC|CAG		0.502	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000381759.1			21	200	0	0	0	0	21	200				
ZHX1	11244	broad.mit.edu	37	8	124267621	124267621	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:124267621T>C	ENST00000522655.1	-	3	1106	c.566A>G	c.(565-567)aAt>aGt	p.N189S	ZHX1_ENST00000395571.3_Missense_Mutation_p.N189S|ZHX1_ENST00000297857.2_Missense_Mutation_p.N189S|ZHX1_ENST00000522595.1_5'Flank|ZHX1-C8ORF76_ENST00000357082.4_Intron			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	189					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TTCCACTTTATTTTTCATCAT	0.353																																						uc003yqe.2		NA																	0				ovary(1)	1						c.(565-567)AAT>AGT		zinc fingers and homeoboxes 1							98.0	101.0	100.0					8																	124267621		2203	4299	6502	SO:0001583	missense	11244				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:124267621T>C	AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	12871	protein-coding gene	gene with protein product		604764	"""zinc-fingers and homeoboxes 1"""			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.566A>G	8.37:g.124267621T>C	ENSP00000428821:p.Asn189Ser					C8orf76_uc003yqd.2_Intron|ZHX1_uc003yqf.2_Missense_Mutation_p.N189S|ZHX1_uc003yqg.2_Intron|ZHX1_uc010mdi.2_Missense_Mutation_p.N189S	p.N189S	NM_007222	NP_009153	Q9UKY1	ZHX1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	996	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		189					Q8IWD8	Missense_Mutation	SNP	ENST00000522655.1	37	c.566A>G	CCDS6342.1	.	.	.	.	.	.	.	.	.	.	T	4.197	0.035340	0.08148	.	.	ENSG00000165156	ENST00000297857;ENST00000395571;ENST00000522655	T;T;T	0.48201	0.82;0.82;0.82	5.66	0.466	0.16716	.	0.312534	0.32231	N	0.006381	T	0.20820	0.0501	.	.	.	0.30490	N	0.771437	B	0.02656	0.0	B	0.04013	0.001	T	0.26815	-1.0092	9	0.07482	T	0.82	-8.6429	6.5878	0.22630	0.0:0.2424:0.1177:0.6399	.	189	Q9UKY1	ZHX1_HUMAN	S	189	ENSP00000297857:N189S;ENSP00000378938:N189S;ENSP00000428821:N189S	ENSP00000297857:N189S	N	-	2	0	ZHX1	124336802	0.999000	0.42202	0.991000	0.47740	0.985000	0.73830	0.851000	0.27751	0.117000	0.18138	0.454000	0.30748	AAT		0.353	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000381759.1			26	205	0	0	0	0	26	205				
ADCY8	114	broad.mit.edu	37	8	131792719	131792719	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:131792719A>G	ENST00000286355.5	-	18	5765	c.3673T>C	c.(3673-3675)Tac>Cac	p.Y1225H	ADCY8_ENST00000377928.3_Missense_Mutation_p.Y1094H	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1225					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CGCCGGTTGTAATGACCCTTG	0.517										HNSCC(32;0.087)																												uc003ytd.3		NA																	0				skin(4)|large_intestine(1)|central_nervous_system(1)	6						c.(3673-3675)TAC>CAC		adenylate cyclase 8							160.0	147.0	152.0					8																	131792719		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131792719A>G	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.3673T>C	8.37:g.131792719A>G	ENSP00000286355:p.Tyr1225His	HNSCC(32;0.087)				ADCY8_uc010mds.2_Missense_Mutation_p.Y1094H	p.Y1225H	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		18	3929	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		1225			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000286355.5	37	c.3673T>C	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	A	16.07	3.017915	0.54576	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.79454	-1.27;-1.23	5.68	5.68	0.88126	.	0.000000	0.64402	D	0.000001	T	0.77718	0.4172	N	0.14661	0.345	0.36669	D	0.878368	D;D	0.65815	0.96;0.995	P;D	0.70487	0.528;0.969	T	0.81653	-0.0835	10	0.39692	T	0.17	.	13.6778	0.62465	1.0:0.0:0.0:0.0	.	1094;1225	E7EVL1;P40145	.;ADCY8_HUMAN	H	1225;1094	ENSP00000286355:Y1225H;ENSP00000367161:Y1094H	ENSP00000286355:Y1225H	Y	-	1	0	ADCY8	131861901	1.000000	0.71417	0.996000	0.52242	0.750000	0.42670	8.695000	0.91298	2.172000	0.68678	0.533000	0.62120	TAC		0.517	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			21	142	0	0	0	0	21	142				
SLC45A4	57210	broad.mit.edu	37	8	142229061	142229061	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:142229061C>A	ENST00000024061.3	-	4	832	c.525G>T	c.(523-525)tgG>tgT	p.W175C	SLC45A4_ENST00000433583.2_Missense_Mutation_p.W168C|SLC45A4_ENST00000517878.1_Missense_Mutation_p.W226C|SLC45A4_ENST00000519067.1_Missense_Mutation_p.W175C	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GGGTCCGGAACCAGCTGCCCA	0.652																																						uc003ywd.1		NA																	0				ovary(2)	2						c.(523-525)TGG>TGT		solute carrier family 45, member 4							76.0	82.0	80.0					8																	142229061		2203	4300	6503	SO:0001583	missense	57210				transport	integral to membrane		g.chr8:142229061C>A	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.525G>T	8.37:g.142229061C>A	ENSP00000024061:p.Trp175Cys					SLC45A4_uc003ywc.1_Missense_Mutation_p.W175C|SLC45A4_uc010meq.1_Missense_Mutation_p.W173C	p.W175C	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		4	833	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		226					Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	ENST00000024061.3	37	c.525G>T	CCDS34948.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.892093	0.52014	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061;ENST00000520137	D;D;D;D;D	0.92647	-3.08;-3.08;-3.08;-3.08;-3.08	5.45	5.45	0.79879	.	0.579581	0.19313	N	0.117356	D	0.91872	0.7427	L	0.39898	1.24	0.52501	D	0.999952	D;D;P	0.58970	0.984;0.967;0.867	P;P;P	0.57152	0.814;0.77;0.77	D	0.90176	0.4239	10	0.38643	T	0.18	-16.0369	11.2448	0.48990	0.148:0.7246:0.1274:0.0	.	226;175;175	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	C	175;226;168;175;33	ENSP00000429059:W175C;ENSP00000428137:W226C;ENSP00000400799:W168C;ENSP00000024061:W175C;ENSP00000429033:W33C	ENSP00000024061:W175C	W	-	3	0	SLC45A4	142298243	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	0.894000	0.28350	2.560000	0.86352	0.555000	0.69702	TGG		0.652	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		17	121	1	0	6.94e-10	7.53e-10	17	121				
TOP1MT	116447	broad.mit.edu	37	8	144398271	144398271	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:144398271G>C	ENST00000329245.4	-	11	1390	c.1356C>G	c.(1354-1356)atC>atG	p.I452M	AC087793.1_ENST00000585120.1_RNA|TOP1MT_ENST00000519148.1_Missense_Mutation_p.I354M|TOP1MT_ENST00000523676.1_Missense_Mutation_p.I354M|TOP1MT_ENST00000521193.1_Missense_Mutation_p.I354M	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	452					DNA replication (GO:0006260)|DNA topological change (GO:0006265)	chromosome (GO:0005694)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	TGTAGGATAAGATCTTAGCTG	0.602																																						uc003yxz.2		NA																	0				ovary(1)	1						c.(1354-1356)ATC>ATG		mitochondrial topoisomerase I precursor	Irinotecan(DB00762)|Topotecan(DB01030)						173.0	141.0	152.0					8																	144398271		2203	4300	6503	SO:0001583	missense	116447				DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity	g.chr8:144398271G>C	AF349018	CCDS6400.1, CCDS59115.1	8q24.3	2006-04-12				ENSG00000184428			29787	protein-coding gene	gene with protein product		606387				11526219	Standard	NM_052963		Approved		uc003yxz.4	Q969P6		ENST00000329245.4:c.1356C>G	8.37:g.144398271G>C	ENSP00000328835:p.Ile452Met					TOP1MT_uc011lkd.1_Missense_Mutation_p.I354M|TOP1MT_uc011lke.1_Missense_Mutation_p.I354M|TOP1MT_uc010mfb.2_Missense_Mutation_p.I354M|TOP1MT_uc011lkf.1_Missense_Mutation_p.I247M	p.I452M	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		11	1375	-	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		452					B7ZAR5|E7ES89|Q86ST4|Q86V82	Missense_Mutation	SNP	ENST00000329245.4	37	c.1356C>G	CCDS6400.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.642674	0.67244	.	.	ENSG00000184428	ENST00000329245;ENST00000521193;ENST00000519148;ENST00000523676	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	3.37	-1.38	0.09027	DNA breaking-rejoining enzyme, catalytic core (1);DNA topoisomerase I, C-terminal, eukaryotic-type (1);DNA topoisomerase I, catalytic core, alpha/beta subdomain, eukaryotic-type (1);DNA topoisomerase I, catalytic core, eukaryotic-type (1);	0.570312	0.14404	U	0.321730	T	0.43612	0.1255	M	0.70275	2.135	0.38709	D	0.953179	P;P	0.45594	0.862;0.687	P;B	0.48425	0.577;0.438	T	0.47812	-0.9088	10	0.54805	T	0.06	-1.3802	4.9402	0.13961	0.4713:0.1561:0.3726:0.0	.	247;452	E7ESI1;Q969P6	.;TOP1M_HUMAN	M	452;354;354;354	ENSP00000328835:I452M;ENSP00000428369:I354M;ENSP00000429169:I354M;ENSP00000429181:I354M	ENSP00000328835:I452M	I	-	3	3	TOP1MT	144469646	0.999000	0.42202	0.002000	0.10522	0.879000	0.50718	0.338000	0.19858	-0.242000	0.09667	0.609000	0.83330	ATC		0.602	TOP1MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381247.3	NM_052963		15	112	0	0	0	0	15	112				
ZC3H3	23144	broad.mit.edu	37	8	144548019	144548019	+	Splice_Site	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:144548019C>T	ENST00000262577.5	-	9	2207		c.e9-1			NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3						mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			ACACCGGCATCTGCAGGGAGG	0.657																																						uc003yyd.2		NA																	0				skin(1)	1						c.e9-1		zinc finger CCCH-type containing 3							43.0	36.0	38.0					8																	144548019		2203	4300	6503	SO:0001630	splice_region_variant	23144				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding	g.chr8:144548019C>T	D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"""Zinc fingers, CCCH-type domain containing"""	28972	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 3"""	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.2176-1G>A	8.37:g.144548019C>T							p.M726_splice	NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)		9	2205	-	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)							Q14163|Q8N4E2|Q9BUS4	Splice_Site	SNP	ENST00000262577.5	37	c.2176_splice	CCDS6402.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.851901	0.51270	.	.	ENSG00000014164	ENST00000262577	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9275	0.88988	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZC3H3	144619162	1.000000	0.71417	1.000000	0.80357	0.338000	0.28826	7.311000	0.78958	2.242000	0.73789	0.561000	0.74099	.		0.657	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	NM_015117	Intron	5	39	0	0	0	0	5	39				
EPPK1	83481	broad.mit.edu	37	8	144947011	144947011	+	Silent	SNP	G	G	A	rs549982161		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:144947011G>A	ENST00000525985.1	-	2	482	c.411C>T	c.(409-411)atC>atT	p.I137I				P58107	EPIPL_HUMAN	epiplakin 1	137						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTCCTTCCCGATGGCCTGAA	0.682													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18502	0.0		0.0	False		,,,				2504	0.0					uc003zaa.1		NA																	0				pancreas(1)|skin(1)	2						c.(409-411)ATC>ATT		epiplakin 1							22.0	26.0	25.0					8																	144947011		1986	4134	6120	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144947011G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.411C>T	8.37:g.144947011G>A							p.I137I	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		1	424	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		137			Plectin 3.		Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.411C>T																																																																																					0.682	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		9	46	0	0	0	0	9	46				
MPDZ	8777	broad.mit.edu	37	9	13121863	13121863	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:13121863C>G	ENST00000319217.7	-	38	5353	c.5106G>C	c.(5104-5106)caG>caC	p.Q1702H	MPDZ_ENST00000381022.2_Missense_Mutation_p.Q1702H|MPDZ_ENST00000541718.1_Missense_Mutation_p.Q1702H|MPDZ_ENST00000381015.4_Missense_Mutation_p.Q1702H|MPDZ_ENST00000447879.1_Missense_Mutation_p.Q1669H|MPDZ_ENST00000546205.1_Missense_Mutation_p.Q1716H|MPDZ_ENST00000541093.1_5'UTR|MPDZ_ENST00000538841.1_Missense_Mutation_p.Q561H|MPDZ_ENST00000536827.1_Missense_Mutation_p.Q1669H	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1702	PDZ 10. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GGCGCACTCTCTGTGGCGTCT	0.498																																						uc010mia.1		NA																	0				ovary(5)|central_nervous_system(1)	6						c.(5104-5106)CAG>CAC		multiple PDZ domain protein							89.0	84.0	86.0					9																	13121863		2018	4200	6218	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13121863C>G	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.5106G>C	9.37:g.13121863C>G	ENSP00000320006:p.Gln1702His					MPDZ_uc003zkx.3_5'Flank|MPDZ_uc003zky.3_Missense_Mutation_p.Q236H|MPDZ_uc010mib.2_Missense_Mutation_p.Q407H|MPDZ_uc010mhx.2_Missense_Mutation_p.Q524H|MPDZ_uc011lmm.1_Missense_Mutation_p.Q561H|MPDZ_uc003zkz.3_Missense_Mutation_p.Q395H|MPDZ_uc010mhy.2_Missense_Mutation_p.Q1702H|MPDZ_uc010mhz.2_Missense_Mutation_p.Q1669H|MPDZ_uc011lmn.1_Missense_Mutation_p.Q1669H|MPDZ_uc003zlb.3_Missense_Mutation_p.Q1702H	p.Q1702H	NM_003829	NP_003820	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	37	5163	-			1702			PDZ 10.		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.5106G>C		.	.	.	.	.	.	.	.	.	.	C	13.76	2.333820	0.41297	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000438511;ENST00000545857;ENST00000538841;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T;T;T;T	0.39229	1.63;1.63;1.63;1.09;1.63;1.63;1.63;1.63;1.63;1.63	5.91	-10.5	0.00291	PDZ/DHR/GLGF (4);	0.000000	0.44902	D	0.000407	T	0.34861	0.0912	L	0.37630	1.12	0.58432	D	0.999999	B;B;B;B;B;B;B	0.31548	0.263;0.046;0.021;0.032;0.328;0.222;0.021	B;B;B;B;P;B;B	0.44394	0.312;0.07;0.103;0.075;0.448;0.208;0.103	T	0.56323	-0.7998	10	0.49607	T	0.09	.	14.9028	0.70692	0.0:0.5637:0.0785:0.3578	.	1669;561;407;1669;1582;1702;1702	B7ZMI4;B7ZB24;B4DGX5;O75970-3;E7EPZ1;O75970-2;O75970	.;.;.;.;.;.;MPDZ_HUMAN	H	1702;1702;1702;243;638;561;1669;1669;1702;1582;1716	ENSP00000320006:Q1702H;ENSP00000439807:Q1702H;ENSP00000370410:Q1702H;ENSP00000415964:Q243H;ENSP00000444230:Q638H;ENSP00000444717:Q561H;ENSP00000444151:Q1669H;ENSP00000415208:Q1669H;ENSP00000370403:Q1702H;ENSP00000446358:Q1716H	ENSP00000320006:Q1702H	Q	-	3	2	MPDZ	13111863	0.008000	0.16893	0.173000	0.22940	0.919000	0.55068	-1.013000	0.03645	-1.860000	0.01154	-0.150000	0.13652	CAG		0.498	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		10	52	0	0	0	0	10	52				
VCP	7415	broad.mit.edu	37	9	35062342	35062342	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:35062342C>G	ENST00000358901.6	-	8	1712	c.817G>C	c.(817-819)Gag>Cag	p.E273Q		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	273					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CTCATGATCTCAGGACCTGAA	0.443																																						uc003zvy.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(817-819)GAG>CAG		valosin-containing protein							85.0	81.0	82.0					9																	35062342		2203	4300	6503	SO:0001583	missense	7415				activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding	g.chr9:35062342C>G	AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"""ATPases / AAA-type"""	12666	protein-coding gene	gene with protein product		601023	"""valosin-containing protein"""			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.817G>C	9.37:g.35062342C>G	ENSP00000351777:p.Glu273Gln					VCP_uc003zvz.2_RNA|VCP_uc010mkh.1_5'UTR|VCP_uc010mki.1_Missense_Mutation_p.E228Q	p.E273Q	NM_007126	NP_009057	P55072	TERA_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		8	1206	-			273					B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Missense_Mutation	SNP	ENST00000358901.6	37	c.817G>C	CCDS6573.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.737219	0.89482	.	.	ENSG00000165280	ENST00000358901	D	0.95853	-3.83	5.93	5.93	0.95920	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.96880	0.8981	L	0.41961	1.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97131	0.9818	10	0.87932	D	0	-28.153	20.3539	0.98825	0.0:1.0:0.0:0.0	.	273	P55072	TERA_HUMAN	Q	273	ENSP00000351777:E273Q	ENSP00000351777:E273Q	E	-	1	0	VCP	35052342	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.826000	0.97356	0.655000	0.94253	GAG		0.443	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052290.1	NM_007126		15	128	0	0	0	0	15	128				
RUSC2	9853	broad.mit.edu	37	9	35546558	35546558	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:35546558G>A	ENST00000455600.1	+	2	609	c.40G>A	c.(40-42)Gtt>Att	p.V14I	RUSC2_ENST00000468041.1_3'UTR	NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	14						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GACCCTCATCGTTCATCACAT	0.582																																						uc003zww.2		NA																	0				ovary(1)	1						c.(40-42)GTT>ATT		RUN and SH3 domain containing 2							94.0	89.0	91.0					9																	35546558		2203	4300	6503	SO:0001583	missense	9853					cytosol		g.chr9:35546558G>A	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.40G>A	9.37:g.35546558G>A	ENSP00000393922:p.Val14Ile					RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.V14I	p.V14I	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		2	295	+			14					A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	ENST00000455600.1	37	c.40G>A	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.410726	0.83340	.	.	ENSG00000198853	ENST00000361226;ENST00000455600;ENST00000543478	T;T	0.37915	1.17;1.17	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.52629	0.1746	L	0.34521	1.04	0.51767	D	0.999936	D	0.89917	1.0	D	0.76575	0.988	T	0.50841	-0.8780	10	0.87932	D	0	-18.851	19.6529	0.95825	0.0:0.0:1.0:0.0	.	14	Q8N2Y8	RUSC2_HUMAN	I	14	ENSP00000355177:V14I;ENSP00000393922:V14I	ENSP00000355177:V14I	V	+	1	0	RUSC2	35536558	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.359000	0.97115	2.890000	0.99128	0.655000	0.94253	GTT		0.582	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		15	202	0	0	0	0	15	202				
TLN1	7094	broad.mit.edu	37	9	35716472	35716472	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:35716472T>C	ENST00000314888.9	-	20	2893	c.2540A>G	c.(2539-2541)gAa>gGa	p.E847G	TLN1_ENST00000540444.1_Missense_Mutation_p.E847G	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	847					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CAGATCACTTTCCCCCTCAGC	0.567																																						uc003zxt.2		NA																	0				lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13						c.(2539-2541)GAA>GGA		talin 1							161.0	143.0	149.0					9																	35716472		2203	4300	6503	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35716472T>C	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.2540A>G	9.37:g.35716472T>C	ENSP00000316029:p.Glu847Gly						p.E847G	NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		20	2894	-	all_epithelial(49;0.167)		847					A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.2540A>G	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.349706	0.82132	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.70631	-0.5;-0.49	6.17	6.17	0.99709	.	0.102069	0.64402	D	0.000003	T	0.68504	0.3008	M	0.71581	2.175	0.80722	D	1	P	0.42827	0.791	B	0.33521	0.165	T	0.72988	-0.4124	10	0.51188	T	0.08	-27.0106	16.8222	0.85835	0.0:0.0:0.0:1.0	.	847	Q9Y490	TLN1_HUMAN	G	847	ENSP00000316029:E847G;ENSP00000442981:E847G	ENSP00000316029:E847G	E	-	2	0	TLN1	35706472	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	GAA		0.567	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		23	270	0	0	0	0	23	270				
RECK	8434	broad.mit.edu	37	9	36087862	36087862	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:36087862C>G	ENST00000377966.3	+	9	1375	c.809C>G	c.(808-810)tCt>tGt	p.S270C		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	270	5 X Knot repeats.				blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			AGCTCACAATCTGTTCACCCT	0.458																																						uc003zyv.2		NA																	0				skin(2)|ovary(1)	3						c.(808-810)TCT>TGT		RECK protein precursor							154.0	135.0	141.0					9																	36087862		2203	4300	6503	SO:0001583	missense	8434					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity	g.chr9:36087862C>G	E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.809C>G	9.37:g.36087862C>G	ENSP00000367202:p.Ser270Cys					RECK_uc003zyw.2_Missense_Mutation_p.S142C|RECK_uc003zyx.2_RNA	p.S270C	NM_021111	NP_066934	O95980	RECK_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)		9	895	+			270			5 X Knot repeats.		B2RNS1|Q5W0K6|Q8WX37	Missense_Mutation	SNP	ENST00000377966.3	37	c.809C>G	CCDS6597.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.749616	0.69533	.	.	ENSG00000122707	ENST00000377966	T	0.47177	0.85	5.48	4.58	0.56647	.	0.068598	0.64402	D	0.000011	T	0.35828	0.0945	N	0.08118	0	0.36885	D	0.889592	D;D	0.60160	0.987;0.987	P;P	0.48189	0.57;0.57	T	0.52668	-0.8545	10	0.72032	D	0.01	-10.8953	14.0875	0.64968	0.0:0.8481:0.1519:0.0	.	270;270	A8K9D8;O95980	.;RECK_HUMAN	C	270	ENSP00000367202:S270C	ENSP00000367202:S270C	S	+	2	0	RECK	36077862	1.000000	0.71417	0.954000	0.39281	0.988000	0.76386	4.424000	0.59868	1.302000	0.44855	0.591000	0.81541	TCT		0.458	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1			15	94	0	0	0	0	15	94				
NUTM2F	54754	broad.mit.edu	37	9	97084496	97084496	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:97084496C>T	ENST00000253262.4	-	3	849	c.829G>A	c.(829-831)Gag>Aag	p.E277K	NUTM2F_ENST00000335456.7_Missense_Mutation_p.E277K|NUTM2F_ENST00000341207.4_Missense_Mutation_p.E277K	NM_017561.1	NP_060031.1	A1L443	NTM2F_HUMAN	NUT family member 2F	277																	TCCGCCATCTCGTAGAAGATC	0.642																																						uc004aup.1		NA																	0					0						c.(829-831)GAG>AAG		hypothetical protein LOC54754							63.0	74.0	70.0					9																	97084496		1348	2607	3955	SO:0001583	missense	54754							g.chr9:97084496C>T		CCDS47994.1	9q22.32	2013-05-02	2013-03-14	2013-05-02	ENSG00000130950	ENSG00000130950			23450	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member F"""	FAM22F			Standard	NM_017561		Approved	DKFZp434I1117		A1L443	OTTHUMG00000020260	ENST00000253262.4:c.829G>A	9.37:g.97084496C>T	ENSP00000253262:p.Glu277Lys						p.E277K	NM_017561	NP_060031	A1L443	FA22F_HUMAN			3	850	-		Acute lymphoblastic leukemia(62;0.136)	277					B6ZDF0|Q5SR58|Q5SR59|Q9UFB1	Missense_Mutation	SNP	ENST00000253262.4	37	c.829G>A	CCDS47994.1	.	.	.	.	.	.	.	.	.	.	.	13.99	2.400997	0.42613	.	.	ENSG00000130950	ENST00000335456;ENST00000253262;ENST00000341207	T;T;T	0.36157	1.27;1.27;1.27	1.2	-0.837	0.10766	Nuclear Testis  protein, N-terminal (1);	0.231551	0.30667	N	0.009139	T	0.48314	0.1493	M	0.70595	2.14	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.37663	-0.9696	10	0.87932	D	0	.	2.7677	0.05325	0.0:0.4851:0.3029:0.212	.	277	A1L443	FA22F_HUMAN	K	277	ENSP00000335067:E277K;ENSP00000253262:E277K;ENSP00000343865:E277K	ENSP00000253262:E277K	E	-	1	0	FAM22F	96124317	0.996000	0.38824	0.044000	0.18714	0.325000	0.28411	0.279000	0.18771	-0.269000	0.09298	-1.676000	0.00740	GAG		0.642	NUTM2F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053173.2	NM_017561		20	119	0	0	0	0	20	119				
ANKS6	203286	broad.mit.edu	37	9	101552604	101552604	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:101552604G>A	ENST00000353234.4	-	2	691	c.644C>T	c.(643-645)gCg>gTg	p.A215V	ANKS6_ENST00000471846.1_5'UTR|ANKS6_ENST00000540940.1_Missense_Mutation_p.A20V|ANKS6_ENST00000375018.1_Missense_Mutation_p.A215V|ANKS6_ENST00000375019.2_Intron			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	215						cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GTTGGGGTCCGCGCCCCACTC	0.692																																						uc004ayu.2		NA																	0				ovary(2)	2						c.(643-645)GCG>GTG		ankyrin repeat and sterile alpha motif domain							36.0	40.0	38.0					9																	101552604		2050	4174	6224	SO:0001583	missense	203286							g.chr9:101552604G>A	AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26724	protein-coding gene	gene with protein product		615370	"""sterile alpha motif domain containing 6"", ""ankyrin repeat domain 14"""	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.644C>T	9.37:g.101552604G>A	ENSP00000297837:p.Ala215Val					ANKS6_uc004ayy.1_RNA	p.A215V	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN			2	665	-		Acute lymphoblastic leukemia(62;0.0527)	215			ANK 5.		A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Missense_Mutation	SNP	ENST00000353234.4	37	c.644C>T	CCDS43856.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.525108	0.85600	.	.	ENSG00000165138	ENST00000375018;ENST00000353234;ENST00000540940	T;T;T	0.70516	0.19;0.19;-0.49	5.48	5.48	0.80851	Ankyrin repeat-containing domain (4);	0.051287	0.85682	D	0.000000	D	0.83510	0.5270	M	0.70903	2.155	0.58432	D	0.999991	D	0.89917	1.0	D	0.91635	0.999	D	0.84970	0.0882	10	0.72032	D	0.01	-16.3924	16.8355	0.85956	0.0:0.0:1.0:0.0	.	215	Q68DC2	ANKS6_HUMAN	V	215;215;20	ENSP00000364158:A215V;ENSP00000297837:A215V;ENSP00000442189:A20V	ENSP00000297837:A215V	A	-	2	0	ANKS6	100592425	1.000000	0.71417	0.311000	0.25182	0.454000	0.32378	9.289000	0.96061	2.571000	0.86741	0.561000	0.74099	GCG		0.692	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	NM_173551		7	83	0	0	0	0	7	83				
SVEP1	79987	broad.mit.edu	37	9	113275247	113275247	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:113275247A>G	ENST00000401783.2	-	5	1598	c.1262T>C	c.(1261-1263)cTa>cCa	p.L421P	SVEP1_ENST00000374469.1_Missense_Mutation_p.L398P|SVEP1_ENST00000374461.1_Missense_Mutation_p.L398P|SVEP1_ENST00000302728.8_Missense_Mutation_p.L421P|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	421	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ACCATTGGGTAGACATAAGAT	0.433																																						uc010mtz.2		NA																	0				ovary(7)	7						c.(1261-1263)CTA>CCA		polydom							115.0	108.0	111.0					9																	113275247		1943	4151	6094	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113275247A>G	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.1262T>C	9.37:g.113275247A>G	ENSP00000384917:p.Leu421Pro					SVEP1_uc010mua.1_Missense_Mutation_p.L421P|SVEP1_uc004beu.2_Missense_Mutation_p.L421P|SVEP1_uc004bev.2_Missense_Mutation_p.L165P	p.L421P	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			5	1599	-			421			Sushi 1.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.1262T>C	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	A	16.63	3.175698	0.57692	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	D;D;T;D	0.97455	-4.39;-4.39;-0.21;-4.39	5.99	-1.76	0.08006	Complement control module (2);Growth factor, receptor (1);Sushi/SCR/CCP (3);	0.248480	0.41194	D	0.000934	D	0.97340	0.9130	M	0.86805	2.84	0.58432	D	0.999999	P;P;P;P	0.50819	0.939;0.939;0.917;0.874	P;P;P;P	0.52386	0.697;0.697;0.677;0.466	D	0.95860	0.8882	10	0.38643	T	0.18	.	14.7133	0.69249	0.1943:0.0:0.0:0.8057	.	421;421;421;421	E9PBN8;Q4LDE5;B3KV07;Q4LDE5-2	.;SVEP1_HUMAN;.;.	P	421;398;421;398	ENSP00000384917:L421P;ENSP00000363593:L398P;ENSP00000304118:L421P;ENSP00000363585:L398P	ENSP00000304118:L421P	L	-	2	0	SVEP1	112315068	1.000000	0.71417	0.969000	0.41365	0.966000	0.64601	3.479000	0.53165	-0.143000	0.11334	0.533000	0.62120	CTA		0.433	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				6	83	0	0	0	0	6	83				
ZNF618	114991	broad.mit.edu	37	9	116811382	116811382	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:116811382G>C	ENST00000374126.5	+	15	1899	c.1800G>C	c.(1798-1800)caG>caC	p.Q600H	ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000288466.7_Missense_Mutation_p.Q507H			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	600					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(4)|lung(10)|urinary_tract(1)	16						ACTGGGTGCAGAACGTGCTGT	0.602																																						uc004bid.2		NA																	0					0						c.(1798-1800)CAG>CAC		zinc finger protein 618							91.0	91.0	91.0					9																	116811382		2197	4279	6476	SO:0001583	missense	114991				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:116811382G>C	BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"""Zinc fingers, C2H2-type"""	29416	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 10"""					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.1800G>C	9.37:g.116811382G>C	ENSP00000363241:p.Gln600His					ZNF618_uc004bic.2_Missense_Mutation_p.Q507H|ZNF618_uc011lxi.1_Missense_Mutation_p.Q567H|ZNF618_uc011lxj.1_Missense_Mutation_p.Q568H|ZNF618_uc010mvb.2_Missense_Mutation_p.Q190H	p.Q600H	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN			15	1899	+			600					B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Missense_Mutation	SNP	ENST00000374126.5	37	c.1800G>C		.	.	.	.	.	.	.	.	.	.	G	16.23	3.064935	0.55432	.	.	ENSG00000157657	ENST00000374126;ENST00000288466	T;T	0.21191	2.02;2.02	5.14	4.24	0.50183	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.45074	0.1324	.	.	.	0.80722	D	1	D;D;D	0.71674	0.992;0.998;0.998	D;D;D	0.83275	0.976;0.993;0.996	T	0.41179	-0.9523	9	0.48119	T	0.1	-19.8583	12.8195	0.57685	0.0791:0.0:0.9209:0.0	.	567;600;507	B9EG82;Q5T7W0;Q5T7W0-2	.;ZN618_HUMAN;.	H	600;507	ENSP00000363241:Q600H;ENSP00000288466:Q507H	ENSP00000288466:Q507H	Q	+	3	2	ZNF618	115851203	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	6.125000	0.71627	1.298000	0.44778	0.462000	0.41574	CAG		0.602	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983		20	129	0	0	0	0	20	129				
CDK5RAP2	55755	broad.mit.edu	37	9	123234044	123234044	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:123234044C>T	ENST00000349780.4	-	16	2019	c.1840G>A	c.(1840-1842)Gaa>Aaa	p.E614K	CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.E614K|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.E614K|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.E614K	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	614					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CTCCGAATTTCGCTGatctgc	0.463																																						uc004bkf.2		NA																	0				ovary(2)|lung(1)|skin(1)	4						c.(1840-1842)GAA>AAA		CDK5 regulatory subunit associated protein 2							115.0	111.0	112.0					9																	123234044		2203	4300	6503	SO:0001583	missense	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123234044C>T	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.1840G>A	9.37:g.123234044C>T	ENSP00000343818:p.Glu614Lys					CDK5RAP2_uc004bke.2_5'UTR|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.E614K|CDK5RAP2_uc011lxw.1_5'UTR|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_5'UTR|CDK5RAP2_uc011lya.1_5'UTR|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.E614K|CDK5RAP2_uc004bki.2_Missense_Mutation_p.E413K	p.E614K	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN			16	2021	-			614					Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	c.1840G>A	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584196	0.86748	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000416449;ENST00000345313	T;T;T;T;T	0.18960	3.97;3.83;3.95;3.86;2.18	5.32	5.32	0.75619	.	0.480092	0.21202	N	0.078460	T	0.30386	0.0763	L	0.32530	0.975	0.32069	N	0.594671	D;D;D;D	0.89917	0.996;0.987;1.0;0.978	P;P;D;P	0.83275	0.739;0.739;0.996;0.552	T	0.01848	-1.1261	10	0.02654	T	1	.	14.8551	0.70329	0.0:1.0:0.0:0.0	.	415;614;614;614	Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8	.;.;.;CK5P2_HUMAN	K	614;614;614;614;40;616	ENSP00000354065:E614K;ENSP00000352258:E614K;ENSP00000343818:E614K;ENSP00000353317:E614K;ENSP00000400395:E40K	ENSP00000341695:E616K	E	-	1	0	CDK5RAP2	122273865	0.542000	0.26426	0.554000	0.28268	0.955000	0.61496	1.516000	0.35856	2.633000	0.89246	0.655000	0.94253	GAA		0.463	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		13	116	0	0	0	0	13	116				
C5	727	broad.mit.edu	37	9	123758561	123758561	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:123758561C>T	ENST00000223642.1	-	22	2837	c.2808G>A	c.(2806-2808)agG>agA	p.R936R		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	936					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	AATAGCTTTCCCTTTTGACAC	0.323																																						uc004bkv.2		NA																	0				ovary(2)	2						c.(2806-2808)AGG>AGA		complement component 5 preproprotein	Eculizumab(DB01257)						115.0	123.0	120.0					9																	123758561		2203	4300	6503	SO:0001819	synonymous_variant	727				activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity	g.chr9:123758561C>T	M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.2808G>A	9.37:g.123758561C>T							p.R936R	NM_001735	NP_001726	P01031	CO5_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	22	2838	-			936					Q14CJ0|Q27I61	Silent	SNP	ENST00000223642.1	37	c.2808G>A	CCDS6826.1																																																																																				0.323	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735		18	294	0	0	0	0	18	294				
NOTCH1	4851	broad.mit.edu	37	9	139396305	139396305	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:139396305G>A	ENST00000277541.6	-	30	5608	c.5533C>T	c.(5533-5535)Cag>Tag	p.Q1845*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1845					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|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 transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGGTGCTGCTGAGTCCACTGC	0.652			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2		NA		Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(5533-5535)CAG>TAG		notch1 preproprotein							29.0	35.0	33.0					9																	139396305		2088	4224	6312	SO:0001587	stop_gained	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139396305G>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.5533C>T	9.37:g.139396305G>A	ENSP00000277541:p.Gln1845*	HNSCC(8;0.001)					p.Q1845*	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	30	5533	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1845			Cytoplasmic (Potential).		Q59ED8|Q5SXM3	Nonsense_Mutation	SNP	ENST00000277541.6	37	c.5533C>T	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	46	12.818239	0.99698	.	.	ENSG00000148400	ENST00000277541	.	.	.	4.24	4.24	0.50183	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	15.9569	0.79893	0.0:0.0:1.0:0.0	.	.	.	.	X	1845	.	ENSP00000277541:Q1845X	Q	-	1	0	NOTCH1	138516126	1.000000	0.71417	0.982000	0.44146	0.980000	0.70556	9.480000	0.97931	2.037000	0.60232	0.492000	0.49549	CAG		0.652	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		8	49	0	0	0	0	8	49				
AGPAT2	10555	broad.mit.edu	37	9	139571495	139571495	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:139571495C>T	ENST00000371696.2	-	3	475	c.410G>A	c.(409-411)gGc>gAc	p.G137D	AGPAT2_ENST00000371694.3_Missense_Mutation_p.G137D|AGPAT2_ENST00000538402.1_Missense_Mutation_p.G137D	NM_006412.3	NP_006403.2	O15120	PLCB_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 2	137					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|epidermis development (GO:0008544)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		GAAGAAGACGCCCCCGAGGTA	0.657																																						uc004cii.1		NA																	0					0						c.(409-411)GGC>GAC		1-acylglycerol-3-phosphate O-acyltransferase 2							78.0	88.0	85.0					9																	139571495		2203	4300	6503	SO:0001583	missense	10555				phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr9:139571495C>T	AF000237	CCDS7003.1, CCDS35181.1	9q34.3	2013-02-05	2013-02-05		ENSG00000169692	ENSG00000169692	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	325	protein-coding gene	gene with protein product	"""LPAAT-beta"", ""lysophosphatidic acid acyltransferase, beta"""	603100	"""Berardinelli-Seip congenital lipodystrophy"", ""1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta)"""	BSCL		9242711, 9212163	Standard	NM_006412		Approved		uc004cii.1	O15120	OTTHUMG00000020936	ENST00000371696.2:c.410G>A	9.37:g.139571495C>T	ENSP00000360761:p.Gly137Asp					AGPAT2_uc004cij.1_Missense_Mutation_p.G137D	p.G137D	NM_006412	NP_006403	O15120	PLCB_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)	3	512	-	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)	137			Helical; (Potential).		O00516|O15106|Q5VUD3|Q5VUD4|Q9BSV7|Q9BWR7	Missense_Mutation	SNP	ENST00000371696.2	37	c.410G>A	CCDS7003.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.169515	0.57584	.	.	ENSG00000169692	ENST00000371694;ENST00000371696;ENST00000538402	D;D;D	0.94650	-3.48;-3.48;-3.48	4.75	4.75	0.60458	Phospholipid/glycerol acyltransferase (2);1-acyl-sn-glycerol-3-phosphate acyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.97068	0.9042	M	0.84156	2.68	0.80722	D	1	D;D	0.65815	0.994;0.995	D;D	0.64595	0.925;0.927	D	0.97905	1.0305	10	0.87932	D	0	-31.9931	16.7351	0.85445	0.0:1.0:0.0:0.0	.	137;137	O15120-2;O15120	.;PLCB_HUMAN	D	137	ENSP00000360759:G137D;ENSP00000360761:G137D;ENSP00000438919:G137D	ENSP00000360759:G137D	G	-	2	0	AGPAT2	138691316	1.000000	0.71417	0.488000	0.27440	0.045000	0.14185	5.003000	0.63959	2.175000	0.68902	0.563000	0.77884	GGC		0.657	AGPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055090.1	NM_006412		16	202	0	0	0	0	16	202				
CD99	4267	broad.mit.edu	37	X	2658839	2658839	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:2658839G>A	ENST00000381192.3	+	10	734	c.552G>A	c.(550-552)gaG>gaA	p.E184E	CD99_ENST00000381187.3_Silent_p.E168E	NM_001277710.1|NM_002414.3	NP_001264639.1|NP_002405.1	P14209	CD99_HUMAN	CD99 molecule	184					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11						CTCTTTTAGAGAAATAGAAGA	0.522																																						uc004cqm.2		NA																	0				skin(1)	1						c.(550-552)GAG>GAA		CD99 antigen isoform a precursor							211.0	205.0	207.0					X																	2658839		2203	4296	6499	SO:0001819	synonymous_variant	4267				cell adhesion	cytoplasm|integral to plasma membrane		g.chrX:2658839G>A	M16279	CCDS14119.1, CCDS48071.1, CCDS75947.1	Xp22.32 and Yp11.3	2012-10-02	2006-03-28	2003-02-14	ENSG00000002586	ENSG00000002586		"""Pseudoautosomal regions / PAR1"", ""CD molecules"""	7082	protein-coding gene	gene with protein product		313470, 450000	"""antigen identified by monoclonal antibodies 12E7, F21 and O13"", ""CD99 antigen"""	MIC2			Standard	NM_001122898		Approved		uc004cqm.3	P14209	OTTHUMG00000021073	ENST00000381192.3:c.552G>A	X.37:g.2658839G>A						CD99_uc010nda.2_Silent_p.E168E|CD99_uc004cqn.2_RNA|CD99_uc004cqo.2_Silent_p.E183E	p.E184E	NM_002414	NP_002405	P14209	CD99_HUMAN			10	726	+			184			Cytoplasmic (Potential).		A6NIW1|O00518|Q6ICV7	Silent	SNP	ENST00000381192.3	37	c.552G>A	CCDS14119.1	.	.	.	.	.	.	.	.	.	.	G	6.564	0.472394	0.12461	.	.	ENSG00000002586	ENST00000381177	.	.	.	1.06	-2.12	0.07165	.	0.637405	0.13025	U	0.419769	T	0.35038	0.0918	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35992	-0.9766	6	0.87932	D	0	.	3.7743	0.08654	0.2124:0.4952:0.2924:0.0	.	.	.	.	K	83	.	ENSP00000370570:E83K	E	+	1	0	CD99	2668839	0.333000	0.24731	0.009000	0.14445	0.580000	0.36256	-0.657000	0.05335	-1.326000	0.02266	0.284000	0.19432	GAA		0.522	CD99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055624.1	NM_001122898		12	185	0	0	0	0	12	185				
FRMPD4	9758	broad.mit.edu	37	X	12734553	12734553	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:12734553G>A	ENST00000380682.1	+	15	2481	c.1975G>A	c.(1975-1977)Gcc>Acc	p.A659T		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	659					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TGGAGACTTCGCCTTGGATGA	0.483																																						uc004cuz.1		NA																	0				central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13						c.(1975-1977)GCC>ACC		FERM and PDZ domain containing 4							148.0	158.0	155.0					X																	12734553		2203	4300	6503	SO:0001583	missense	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12734553G>A	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.1975G>A	X.37:g.12734553G>A	ENSP00000370057:p.Ala659Thr					FRMPD4_uc011mij.1_Missense_Mutation_p.A651T	p.A659T	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN			15	2481	+			659					A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	c.1975G>A	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	G	7.504	0.653271	0.14580	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.28454	1.61	5.86	5.0	0.66597	.	0.535513	0.20387	N	0.093333	T	0.25082	0.0609	L	0.57536	1.79	0.21527	N	0.999654	B;B	0.22346	0.038;0.068	B;B	0.13407	0.009;0.009	T	0.28106	-1.0054	10	0.13108	T	0.6	-5.6377	6.6729	0.23078	0.319:0.0:0.681:0.0	.	651;659	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	T	659;650;648	ENSP00000370057:A659T	ENSP00000304583:A648T	A	+	1	0	FRMPD4	12644474	0.962000	0.33011	0.936000	0.37596	0.575000	0.36095	1.936000	0.40183	1.247000	0.43917	-0.170000	0.13304	GCC		0.483	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		38	402	0	0	0	0	38	402				
PHKA2	5256	broad.mit.edu	37	X	18959765	18959765	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:18959765G>A	ENST00000379942.4	-	8	1411	c.746C>T	c.(745-747)gCg>gTg	p.A249V		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	249					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					AGATGTCGACGCTCTTGGCAG	0.428																																						uc004cyv.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(745-747)GCG>GTG		phosphorylase kinase, alpha 2 (liver)							86.0	79.0	81.0					X																	18959765		2203	4300	6503	SO:0001583	missense	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18959765G>A		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.746C>T	X.37:g.18959765G>A	ENSP00000369274:p.Ala249Val					PHKA2_uc010nfh.1_RNA|PHKA2_uc010nfi.1_Missense_Mutation_p.A158V	p.A249V	NM_000292	NP_000283	P46019	KPB2_HUMAN			8	1176	-	Hepatocellular(33;0.183)		249					A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	ENST00000379942.4	37	c.746C>T	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	g	32	5.187229	0.94923	.	.	ENSG00000044446	ENST00000379942	D	0.93189	-3.18	5.52	5.52	0.82312	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.96200	0.8761	M	0.66939	2.045	0.80722	D	1	D	0.71674	0.998	D	0.69824	0.966	D	0.96476	0.9352	10	0.66056	D	0.02	-13.7393	18.4804	0.90809	0.0:0.0:1.0:0.0	.	249	P46019	KPB2_HUMAN	V	249	ENSP00000369274:A249V	ENSP00000369274:A249V	A	-	2	0	PHKA2	18869686	1.000000	0.71417	0.984000	0.44739	0.920000	0.55202	9.807000	0.99171	2.306000	0.77630	0.597000	0.82753	GCG		0.428	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		6	96	0	0	0	0	6	96				
YY2	404281	broad.mit.edu	37	X	21875588	21875588	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:21875588G>A	ENST00000429584.2	+	1	1484	c.986G>A	c.(985-987)cGc>cAc	p.R329H	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000365779.2_Intron	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	329	Mediates transcriptional repression.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						TTCAATTTGCGCACACACTTG	0.532																																						uc011mjp.1		NA																	0				breast(1)|skin(1)	2						c.(985-987)CGC>CAC		YY2 transcription factor							182.0	181.0	181.0					X																	21875588		2203	4300	6503	SO:0001583	missense	404281				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding	g.chrX:21875588G>A	AK091850	CCDS14202.1	Xp22.2-p22.1	2011-02-11			ENSG00000230797	ENSG00000230797		"""Zinc fingers, C2H2-type"""	31684	protein-coding gene	gene with protein product	"""transcription factor yin yang 2"""	300570				14702039	Standard	NM_206923		Approved	ZNF631	uc011mjp.2	O15391	OTTHUMG00000021236	ENST00000429584.2:c.986G>A	X.37:g.21875588G>A	ENSP00000389381:p.Arg329His					MBTPS2_uc004dae.2_Intron|MBTPS2_uc010nfr.2_Intron|YY2_uc010nfq.2_Missense_Mutation_p.R547H|MBTPS2_uc004dab.2_Intron	p.R329H	NM_206923	NP_996806	O15391	TYY2_HUMAN			1	986	+			329			Mediates transcriptional repression.|C2H2-type 3.		B2RP10|Q6Q1S4	Missense_Mutation	SNP	ENST00000429584.2	37	c.986G>A	CCDS14202.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.787837	0.90367	.	.	ENSG00000230797	ENST00000429584	T	0.41400	1.0	4.6	4.6	0.57074	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	U	0.000000	T	0.52273	0.1724	L	0.35288	1.05	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.53222	-0.8469	10	0.52906	T	0.07	.	14.034	0.64634	0.0:0.0:1.0:0.0	.	329	O15391	TYY2_HUMAN	H	329	ENSP00000389381:R329H	ENSP00000389381:R329H	R	+	2	0	YY2	21785509	1.000000	0.71417	0.992000	0.48379	0.757000	0.42996	7.776000	0.85560	2.276000	0.75962	0.544000	0.68410	CGC		0.532	YY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056025.1	NM_206923		58	461	0	0	0	0	58	461				
DMD	1756	broad.mit.edu	37	X	31164450	31164450	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:31164450T>C	ENST00000357033.4	-	76	11085	c.10879A>G	c.(10879-10881)Atg>Gtg	p.M3627V	DMD_ENST00000474231.1_Missense_Mutation_p.M1167V|DMD_ENST00000359836.1_Missense_Mutation_p.M1154V|DMD_ENST00000343523.2_Missense_Mutation_p.M1057V|DMD_ENST00000361471.4_Missense_Mutation_p.M546V|DMD_ENST00000378702.4_Missense_Mutation_p.M559V|DMD_ENST00000378677.2_Missense_Mutation_p.M3623V|DMD_ENST00000378680.2_Missense_Mutation_p.M449V|DMD_ENST00000541735.1_Missense_Mutation_p.M1057V|DMD_ENST00000378707.3_Missense_Mutation_p.M1167V|DMD_ENST00000378723.3_Missense_Mutation_p.M559V	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3627					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CGGAGCAGCATAGGCTGACTG	0.498																																						uc004dda.1		NA																	0				ovary(3)|pancreas(2)|large_intestine(1)	6						c.(10879-10881)ATG>GTG		dystrophin Dp427m isoform							94.0	76.0	82.0					X																	31164450		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31164450T>C	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.10879A>G	X.37:g.31164450T>C	ENSP00000354923:p.Met3627Val					DMD_uc004dcq.1_Missense_Mutation_p.M898V|DMD_uc004dcr.1_Missense_Mutation_p.M1047V|DMD_uc004dcs.1_Missense_Mutation_p.M1057V|DMD_uc004dct.1_Missense_Mutation_p.M1167V|DMD_uc004dcu.1_Missense_Mutation_p.M1167V|DMD_uc004dcv.1_Missense_Mutation_p.M1154V|DMD_uc004dcw.2_Missense_Mutation_p.M2283V|DMD_uc004dcx.2_Missense_Mutation_p.M2286V|DMD_uc004dcz.2_Missense_Mutation_p.M3504V|DMD_uc004dcy.1_Missense_Mutation_p.M3623V|DMD_uc004ddb.1_Missense_Mutation_p.M3619V|DMD_uc004dcm.1_Missense_Mutation_p.M559V|DMD_uc004dcn.1_Missense_Mutation_p.M546V|DMD_uc004dco.1_Missense_Mutation_p.M559V|DMD_uc004dcp.1_Missense_Mutation_p.M546V|DMD_uc011mkb.1_Missense_Mutation_p.M449V	p.M3627V	NM_004006	NP_003997	P11532	DMD_HUMAN			76	11123	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	3627					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.10879A>G	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.97|12.97	2.096270|2.096270	0.36952|0.36952	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378723;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000378702;ENST00000474231;ENST00000361471;ENST00000378680|ENST00000465285	T;T;T;T;T;T;T;T;T;T;T;T|.	0.62788|.	2.24;3.95;0.0;0.0;3.88;3.94;3.82;3.91;2.21;3.89;2.26;2.3|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.000000|.	0.44483|.	U|.	0.000442|.	T|T	0.28267|0.28267	0.0698|0.0698	N|N	0.08118|0.08118	0|0	0.24219|0.24219	N|N	0.995447|0.995447	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B|.	0.22683|.	0.0;0.064;0.073;0.073;0.025;0.025;0.001;0.001;0.0;0.01;0.017;0.01;0.0;0.0;0.0;0.0|.	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B|.	0.24541|.	0.0;0.002;0.008;0.008;0.009;0.009;0.001;0.002;0.002;0.003;0.008;0.054;0.001;0.0;0.0;0.0|.	T|T	0.21621|0.21621	-1.0240|-1.0240	10|5	0.27785|.	T|.	0.31|.	.|.	14.6539|14.6539	0.68820|0.68820	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	449;3619;3627;3623;2286;2283;1154;1167;1167;1057;1057;3504;546;559;546;559|.	B4DSV7;P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3;P11532-5;Q8N754;Q6NSJ9;E9PDN1|.	.;.;DMD_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.|.	V|C	3619;2286;2283;559;1310;3623;3627;1154;1057;3627;3504;1167;1057;559;1167;546;449|1355	ENSP00000367997:M559V;ENSP00000350765:M1310V;ENSP00000367948:M3623V;ENSP00000354923:M3627V;ENSP00000352894:M1154V;ENSP00000340057:M1057V;ENSP00000367979:M1167V;ENSP00000444119:M1057V;ENSP00000367974:M559V;ENSP00000417123:M1167V;ENSP00000354464:M546V;ENSP00000367951:M449V|.	ENSP00000340057:M1057V|.	M|Y	-|-	1|2	0|0	DMD|DMD	31074371|31074371	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	3.286000|3.286000	0.51724|0.51724	2.037000|2.037000	0.60232|0.60232	0.477000|0.477000	0.44152|0.44152	ATG|TAT		0.498	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		12	96	0	0	0	0	12	96				
FAM47A	158724	broad.mit.edu	37	X	34149420	34149420	+	Missense_Mutation	SNP	G	G	A	rs369143353		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:34149420G>A	ENST00000346193.3	-	1	1027	c.976C>T	c.(976-978)Cgc>Tgc	p.R326C		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	326										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GGCTCCGGGCGGAGACTGGAC	0.617																																						uc004ddg.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(976-978)CGC>TGC		hypothetical protein LOC158724		G	CYS/ARG	0,3794		0,0,1613,568	18.0	21.0	20.0		976	0.2	0.0	X		20	1,6708		0,1,2423,1861	no	missense	FAM47A	NM_203408.3	180	0,1,4036,2429	AA,AG,GG,G		0.0149,0.0,0.0095	benign	326/792	34149420	1,10502	2181	4285	6466	SO:0001583	missense	158724							g.chrX:34149420G>A	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.976C>T	X.37:g.34149420G>A	ENSP00000345029:p.Arg326Cys						p.R326C	NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN			1	1009	-			326					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.976C>T	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	g	3.151	-0.174165	0.06421	0.0	1.49E-4	ENSG00000185448	ENST00000346193	T	0.21543	2.0	0.207	0.207	0.15214	.	.	.	.	.	T	0.11879	0.0289	N	0.19112	0.55	0.09310	N	1	B	0.19935	0.04	B	0.06405	0.002	T	0.25882	-1.0119	8	0.54805	T	0.06	.	.	.	.	.	326	Q5JRC9	FA47A_HUMAN	C	326	ENSP00000345029:R326C	ENSP00000345029:R326C	R	-	1	0	FAM47A	34059341	0.263000	0.24083	0.014000	0.15608	0.014000	0.08584	0.096000	0.15147	0.275000	0.22094	0.279000	0.19357	CGC		0.617	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		4	48	0	0	0	0	4	48				
FAM47C	442444	broad.mit.edu	37	X	37028001	37028001	+	Silent	SNP	C	C	T	rs149060980		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:37028001C>T	ENST00000358047.3	+	1	1570	c.1518C>T	c.(1516-1518)cgC>cgT	p.R506R		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	506								p.R506R(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCAAGACACGCGTATCTCATC	0.617													N|||	1	0.000264901	0.0008	0.0	3775	,	,		13118	0.0		0.0	False		,,,				2504	0.0					uc004ddl.1		NA																	2	Substitution - coding silent(2)		endometrium(2)	ovary(3)	3						c.(1516-1518)CGC>CGT		hypothetical protein LOC442444		C		4,3829		0,2,2,1629,569	84.0	81.0	82.0		1518	-2.0	0.0	X	dbSNP_134	82	0,6728		0,0,0,2428,1872	no	coding-synonymous	FAM47C	NM_001013736.2		0,2,2,4057,2441	TT,TC,T,CC,C		0.0,0.1044,0.0379		506/1036	37028001	4,10557	2202	4300	6502	SO:0001819	synonymous_variant	442444							g.chrX:37028001C>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1518C>T	X.37:g.37028001C>T							p.R506R	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	1532	+			506					Q6ZU46	Silent	SNP	ENST00000358047.3	37	c.1518C>T	CCDS35227.1																																																																																				0.617	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		10	178	0	0	0	0	10	178				
CYBB	1536	broad.mit.edu	37	X	37655262	37655262	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:37655262T>C	ENST00000378588.4	+	6	609	c.542T>C	c.(541-543)gTc>gCc	p.V181A	CYBB_ENST00000545017.1_Missense_Mutation_p.V149A|TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000536160.1_Intron	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	181	Ferric oxidoreductase.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|rough endoplasmic reticulum (GO:0005791)	flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32					Dextromethorphan(DB00514)	ACTGGAGTTGTCATCACGCTG	0.458																																						uc004ddr.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(541-543)GTC>GCC		cytochrome b-245 beta polypeptide							166.0	124.0	138.0					X																	37655262		2202	4300	6502	SO:0001583	missense	1536				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity	g.chrX:37655262T>C	X04011	CCDS14242.1	Xp21.1	2014-09-17	2008-07-29		ENSG00000165168	ENSG00000165168		"""Cytochrome b genes"""	2578	protein-coding gene	gene with protein product		300481	"""chronic granulomatous disease"""	CGD			Standard	NM_000397		Approved	GP91-PHOX, NOX2	uc004ddr.2	P04839	OTTHUMG00000033175	ENST00000378588.4:c.542T>C	X.37:g.37655262T>C	ENSP00000367851:p.Val181Ala					CYBB_uc011mke.1_RNA|CYBB_uc011mkf.1_Missense_Mutation_p.V149A|CYBB_uc011mkg.1_Intron	p.V181A	NM_000397	NP_000388	P04839	CY24B_HUMAN			6	603	+			181			Helical; (Potential).|Ferric oxidoreductase.		A8K138|Q2PP16	Missense_Mutation	SNP	ENST00000378588.4	37	c.542T>C	CCDS14242.1	.	.	.	.	.	.	.	.	.	.	T	14.24	2.475985	0.44044	.	.	ENSG00000165168	ENST00000378588;ENST00000545017	D;D	0.91351	-2.83;-2.83	5.4	5.4	0.78164	Flavoprotein transmembrane component (1);	0.236436	0.42548	D	0.000696	D	0.86573	0.5965	L	0.37630	1.12	0.80722	D	1	B;B	0.09022	0.001;0.002	B;B	0.15052	0.009;0.012	T	0.82859	-0.0249	10	0.54805	T	0.06	.	14.5291	0.67912	0.0:0.0:0.0:1.0	.	149;181	F5GWD2;P04839	.;CY24B_HUMAN	A	181;149	ENSP00000367851:V181A;ENSP00000441896:V149A	ENSP00000367851:V181A	V	+	2	0	CYBB	37540202	0.992000	0.36948	0.996000	0.52242	0.679000	0.39708	3.119000	0.50422	1.811000	0.52892	0.437000	0.28790	GTC		0.458	CYBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080881.1			10	151	0	0	0	0	10	151				
USP9X	8239	broad.mit.edu	37	X	41075704	41075704	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:41075704G>C	ENST00000324545.8	+	35	6517	c.5884G>C	c.(5884-5886)Gat>Cat	p.D1962H	USP9X_ENST00000378308.2_Missense_Mutation_p.D1962H	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1962					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						AATAGACCAAGATGATGAGTT	0.393																																					Ovarian(172;1807 2695 35459 49286)	uc004dfb.2		NA																	0				lung(3)|breast(2)|ovary(1)	6						c.(5884-5886)GAT>CAT		ubiquitin specific protease 9, X-linked isoform							140.0	129.0	132.0					X																	41075704		2156	4271	6427	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:41075704G>C	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.5884G>C	X.37:g.41075704G>C	ENSP00000316357:p.Asp1962His					USP9X_uc004dfc.2_Missense_Mutation_p.D1962H	p.D1962H	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN			35	6517	+			1962					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.5884G>C	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.439322	0.43326	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.03181	4.02;4.02	5.76	4.9	0.64082	.	0.085474	0.85682	D	0.000000	T	0.07413	0.0187	L	0.57536	1.79	0.53688	D	0.999978	B;B	0.33448	0.25;0.412	B;B	0.37692	0.256;0.09	T	0.09271	-1.0682	10	0.54805	T	0.06	.	14.0786	0.64905	0.0742:0.0:0.9258:0.0	.	1962;1962	Q93008-1;Q93008	.;USP9X_HUMAN	H	1962	ENSP00000367558:D1962H;ENSP00000316357:D1962H	ENSP00000316357:D1962H	D	+	1	0	USP9X	40960648	1.000000	0.71417	0.689000	0.30133	0.967000	0.64934	7.649000	0.83500	1.185000	0.42971	0.513000	0.50165	GAT		0.393	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		14	185	0	0	0	0	14	185				
SLC38A5	92745	broad.mit.edu	37	X	48319088	48319088	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:48319088G>A	ENST00000376876.3	-	13	1858	c.1015C>T	c.(1015-1017)Cgc>Tgc	p.R339C	SLC38A5_ENST00000376875.1_Missense_Mutation_p.R288C|SLC38A5_ENST00000480105.1_5'UTR|SLC38A5_ENST00000317669.5_Missense_Mutation_p.R339C			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	339					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)			breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						ACGGCCAGGCGCACACAGAGG	0.632																																						uc010nid.2		NA																	0				ovary(3)	3						c.(1015-1017)CGC>TGC		solute carrier family 38, member 5							118.0	77.0	91.0					X																	48319088		2203	4300	6503	SO:0001583	missense	92745				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane		g.chrX:48319088G>A	AF276889	CCDS14293.1	Xp11.23	2013-05-22			ENSG00000017483	ENSG00000017483		"""Solute carriers"""	18070	protein-coding gene	gene with protein product		300649				11243884	Standard	NM_033518		Approved	SN2, JM24	uc010nid.3	Q8WUX1	OTTHUMG00000024117	ENST00000376876.3:c.1015C>T	X.37:g.48319088G>A	ENSP00000366073:p.Arg339Cys					SLC38A5_uc004djk.3_Missense_Mutation_p.R288C	p.R339C	NM_033518	NP_277053	Q8WUX1	S38A5_HUMAN			14	1193	-			339			Helical; (Potential).		B3KT20|B5MDE6|B7WPJ9|Q6PIW9|Q8WYU2|Q96PQ4	Missense_Mutation	SNP	ENST00000376876.3	37	c.1015C>T	CCDS14293.1	.	.	.	.	.	.	.	.	.	.	g	17.26	3.345260	0.61073	.	.	ENSG00000017483	ENST00000376876;ENST00000376875;ENST00000317669	T;T;T	0.02709	4.19;4.19;4.19	4.52	1.25	0.21368	.	0.057351	0.64402	D	0.000002	T	0.15305	0.0369	M	0.92738	3.34	0.58432	D	0.999999	D	0.89917	1.0	D	0.74023	0.982	T	0.00250	-1.1878	10	0.87932	D	0	.	6.1467	0.20289	0.2076:0.0:0.6304:0.1619	.	339	Q8WUX1	S38A5_HUMAN	C	339;288;339	ENSP00000366073:R339C;ENSP00000366071:R288C;ENSP00000313740:R339C	ENSP00000313740:R339C	R	-	1	0	SLC38A5	48204032	1.000000	0.71417	0.018000	0.16275	0.737000	0.42083	4.190000	0.58365	0.226000	0.20979	0.436000	0.28706	CGC		0.632	SLC38A5-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060724.1	NM_033518		9	82	0	0	0	0	9	82				
TBC1D25	4943	broad.mit.edu	37	X	48417690	48417690	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:48417690C>T	ENST00000376771.4	+	5	1002	c.661C>T	c.(661-663)Cgc>Tgc	p.R221C	TBC1D25_ENST00000537536.1_5'UTR|snoU13_ENST00000459609.1_RNA|TBC1D25_ENST00000476141.1_3'UTR	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	221					autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						CGAGGAGTTGCGCCTGCGGAT	0.582																																						uc004dka.1		NA																	0				ovary(1)	1						c.(661-663)CGC>TGC		TBC1 domain family, member 25							70.0	53.0	59.0					X																	48417690		2203	4300	6503	SO:0001583	missense	4943					intracellular	Rab GTPase activator activity	g.chrX:48417690C>T	L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"""ornithine aminotransferase-like 1"""	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.661C>T	X.37:g.48417690C>T	ENSP00000365962:p.Arg221Cys					TBC1D25_uc011mly.1_Missense_Mutation_p.R163C|TBC1D25_uc004dkb.1_5'UTR|TBC1D25_uc011mlz.1_5'UTR|TBC1D25_uc011mma.1_5'UTR|TBC1D25_uc004dkc.1_5'UTR|TBC1D25_uc011mmb.1_Missense_Mutation_p.R225C|TBC1D25_uc011mmc.1_5'UTR|TBC1D25_uc011mmd.1_5'UTR	p.R221C	NM_002536	NP_002527	Q3MII6	TBC25_HUMAN			5	772	+			221					Q08AN9|Q3MII4|Q8TAR9	Missense_Mutation	SNP	ENST00000376771.4	37	c.661C>T	CCDS35242.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.104394	0.56291	.	.	ENSG00000068354	ENST00000376771	T	0.04502	3.61	5.7	5.7	0.88788	Rab-GAP/TBC domain (1);	0.000000	0.85682	D	0.000000	T	0.22044	0.0531	M	0.74258	2.255	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.991;0.991;0.994	T	0.00128	-1.2018	10	0.87932	D	0	-3.8299	16.0726	0.80946	0.0:1.0:0.0:0.0	.	225;163;221	B4DF03;B4DGU3;Q3MII6	.;.;TBC25_HUMAN	C	221	ENSP00000365962:R221C	ENSP00000365962:R221C	R	+	1	0	TBC1D25	48302634	1.000000	0.71417	0.997000	0.53966	0.793000	0.44817	2.575000	0.46025	2.397000	0.81536	0.529000	0.55759	CGC		0.582	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060764.2	NM_002536		4	41	0	0	0	0	4	41				
GNL3L	54552	broad.mit.edu	37	X	54574764	54574764	+	Missense_Mutation	SNP	C	C	T	rs371577497		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:54574764C>T	ENST00000336470.4	+	9	872	c.733C>T	c.(733-735)Cgc>Tgc	p.R245C	GNL3L_ENST00000360845.2_Missense_Mutation_p.R245C	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	245	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						GAACTATTGCCGCCTTGGTGA	0.542																																						uc004dth.1		NA																	0				ovary(1)	1						c.(733-735)CGC>TGC		guanine nucleotide binding protein-like 3		C	CYS/ARG,CYS/ARG	0,3835		0,0,1632,571	96.0	77.0	84.0		733,733	3.1	1.0	X		84	1,6727		0,1,2427,1872	no	missense,missense	GNL3L	NM_001184819.1,NM_019067.5	180,180	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	probably-damaging,probably-damaging	245/583,245/583	54574764	1,10562	2203	4300	6503	SO:0001583	missense	54552				ribosome biogenesis	nucleolus	GTP binding	g.chrX:54574764C>T	AK001475	CCDS14360.1	Xp11.22	2010-03-17			ENSG00000130119	ENSG00000130119			25553	protein-coding gene	gene with protein product		300873				12477932	Standard	NM_019067		Approved	FLJ10613	uc004dth.2	Q9NVN8	OTTHUMG00000021629	ENST00000336470.4:c.733C>T	X.37:g.54574764C>T	ENSP00000338573:p.Arg245Cys					GNL3L_uc004dti.2_RNA	p.R245C	NM_019067	NP_061940	Q9NVN8	GNL3L_HUMAN			9	872	+			245						Missense_Mutation	SNP	ENST00000336470.4	37	c.733C>T	CCDS14360.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.763151	0.49574	0.0	1.49E-4	ENSG00000130119	ENST00000336470;ENST00000360845	T;T	0.15017	2.46;2.46	3.94	3.06	0.35304	.	0.053265	0.85682	N	0.000000	T	0.29028	0.0721	M	0.92122	3.275	0.80722	D	1	B	0.23650	0.089	B	0.21151	0.033	T	0.18903	-1.0322	10	0.87932	D	0	-6.4687	10.3878	0.44152	0.0:0.8934:0.0:0.1066	.	245	Q9NVN8	GNL3L_HUMAN	C	245	ENSP00000338573:R245C;ENSP00000354091:R245C	ENSP00000338573:R245C	R	+	1	0	GNL3L	54591489	0.998000	0.40836	0.995000	0.50966	0.924000	0.55760	2.391000	0.44424	0.757000	0.33036	0.538000	0.68166	CGC		0.542	GNL3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056805.1	NM_019067		5	75	0	0	0	0	5	75				
AMER1	139285	broad.mit.edu	37	X	63412011	63412011	+	Missense_Mutation	SNP	C	C	G	rs587778022		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:63412011C>G	ENST00000330258.3	-	2	1428	c.1156G>C	c.(1156-1158)Gaa>Caa	p.E386Q	AMER1_ENST00000374869.3_Missense_Mutation_p.E386Q|AMER1_ENST00000403336.1_Missense_Mutation_p.E386Q	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	386	Glu-rich.				adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									tccacctcttcttcctcttct	0.517																																						uc004dvo.2		NA																	67	Whole gene deletion(67)	p.0?(40)	kidney(65)|ovary(1)|large_intestine(1)	kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						c.(1156-1158)GAA>CAA		family with sequence similarity 123B							166.0	159.0	161.0					X																	63412011		2203	4300	6503	SO:0001583	missense	139285				Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		g.chrX:63412011C>G	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.1156G>C	X.37:g.63412011C>G	ENSP00000329117:p.Glu386Gln						p.E386Q	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN			2	1429	-			386			Glu-rich.		A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	c.1156G>C	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	C	1.760	-0.487137	0.04352	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.11385	2.78;2.78;2.78	4.65	4.65	0.58169	.	0.000000	0.52532	D	0.000062	T	0.11452	0.0279	L	0.36672	1.1	0.27223	N	0.9596	P	0.36909	0.573	B	0.40659	0.336	T	0.09640	-1.0665	10	0.59425	D	0.04	-8.9439	10.6318	0.45541	0.0:0.6856:0.3144:0.0	.	386	Q5JTC6	F123B_HUMAN	Q	386	ENSP00000364003:E386Q;ENSP00000329117:E386Q;ENSP00000384722:E386Q	ENSP00000329117:E386Q	E	-	1	0	FAM123B	63328736	0.030000	0.19436	0.876000	0.34364	0.334000	0.28698	1.461000	0.35255	2.294000	0.77228	0.513000	0.50165	GAA		0.517	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		12	158	0	0	0	0	12	158				
HEPH	9843	broad.mit.edu	37	X	65413477	65413477	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:65413477C>A	ENST00000343002.2	+	7	2030	c.1366C>A	c.(1366-1368)Ctg>Atg	p.L456M	HEPH_ENST00000419594.1_Missense_Mutation_p.L459M|HEPH_ENST00000519389.1_Missense_Mutation_p.L510M|HEPH_ENST00000336279.5_Missense_Mutation_p.L189M|HEPH_ENST00000441993.2_Missense_Mutation_p.L459M|HEPH_ENST00000374727.3_Missense_Mutation_p.L459M			Q9BQS7	HEPH_HUMAN	hephaestin	456	Plastocyanin-like 3.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TCTTGGAATCCTGGGTGAGGA	0.418																																						uc011moz.1		NA																	0				lung(5)|ovary(4)	9						c.(1375-1377)CTG>ATG		hephaestin isoform a							40.0	36.0	37.0					X																	65413477		2203	4300	6503	SO:0001583	missense	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65413477C>A	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.1366C>A	X.37:g.65413477C>A	ENSP00000343939:p.Leu456Met					HEPH_uc004dwn.2_Missense_Mutation_p.L459M|HEPH_uc004dwo.2_Missense_Mutation_p.L189M|HEPH_uc010nkr.2_Missense_Mutation_p.L459M|HEPH_uc011mpa.1_Missense_Mutation_p.L459M	p.L459M	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN			8	1435	+			456			Extracellular (Potential).|Plastocyanin-like 3.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37	c.1375C>A		.	.	.	.	.	.	.	.	.	.	C	13.40	2.224469	0.39300	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002;ENST00000425114	D;D;D;D;D;D;D	0.99545	-6.13;-6.13;-6.13;-6.13;-5.55;-6.13;-5.55	5.39	2.37	0.29283	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.190972	0.37809	N	0.001937	D	0.99086	0.9686	M	0.64676	1.99	0.31555	N	0.65825	D;P;P	0.55385	0.971;0.612;0.925	P;B;P	0.58577	0.841;0.173;0.612	D	0.98190	1.0462	10	0.52906	T	0.07	.	6.8334	0.23923	0.1568:0.6633:0.0:0.1799	.	510;459;456	E9PHN8;E7ES21;Q9BQS7	.;.;HEPH_HUMAN	M	510;459;189;459;459;456;456	ENSP00000430620:L510M;ENSP00000363859:L459M;ENSP00000337418:L189M;ENSP00000411687:L459M;ENSP00000413211:L459M;ENSP00000343939:L456M;ENSP00000398078:L456M	ENSP00000337418:L189M	L	+	1	2	HEPH	65330202	0.473000	0.25878	0.990000	0.47175	0.978000	0.69477	0.675000	0.25232	1.053000	0.40415	0.594000	0.82650	CTG		0.418	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		11	79	1	0	4.69e-08	5e-08	11	79				
EDA	1896	broad.mit.edu	37	X	69255292	69255292	+	Missense_Mutation	SNP	G	G	A	rs191378148		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:69255292G>A	ENST00000374552.4	+	8	1251	c.1009G>A	c.(1009-1011)Gag>Aag	p.E337K	EDA_ENST00000524573.1_Missense_Mutation_p.E332K|EDA_ENST00000374553.2_Missense_Mutation_p.E335K	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	337					cell differentiation (GO:0030154)|cell-matrix adhesion (GO:0007160)|ectoderm development (GO:0007398)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|immune response (GO:0006955)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|salivary gland cavitation (GO:0060662)|signal transduction (GO:0007165)|trachea gland development (GO:0061153)	apical part of cell (GO:0045177)|collagen trimer (GO:0005581)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						ACGCAGCATCGAGACGGGCAA	0.552													G|||	1	0.000264901	0.0	0.0	3775	,	,		14817	0.0		0.001	False		,,,				2504	0.0					uc004dxs.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(1009-1011)GAG>AAG		ectodysplasin A isoform EDA-A1							106.0	67.0	81.0					X																	69255292		2203	4300	6503	SO:0001583	missense	1896				cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding	g.chrX:69255292G>A	U59227	CCDS14394.1, CCDS35318.1, CCDS35319.1, CCDS43966.1, CCDS35318.2, CCDS35319.2, CCDS55436.1	Xq12-q13.1	2013-05-22	2004-08-09	2004-08-12	ENSG00000158813	ENSG00000158813		"""Tumor necrosis factor (ligand) superfamily"""	3157	protein-coding gene	gene with protein product		300451	"""ectodermal dysplasia 1, anhidrotic"", ""oligodontia 1"""	ED1, EDA2, ODT1		8696334, 18657636, 16583127	Standard	NM_001005612		Approved	EDA1, XLHED, HED, XHED, ED1-A1, ED1-A2, EDA-A1, EDA-A2	uc004dxs.3	Q92838	OTTHUMG00000021764	ENST00000374552.4:c.1009G>A	X.37:g.69255292G>A	ENSP00000363680:p.Glu337Lys					EDA_uc004dxr.2_Missense_Mutation_p.E335K|EDA_uc011mpj.1_Missense_Mutation_p.E332K	p.E337K	NM_001399	NP_001390	Q92838	EDA_HUMAN			8	1251	+			337			Extracellular (Potential).		A0AUZ2|A2A337|B7ZLU2|B7ZLU4|O75910|Q5JS00|Q5JUM7|Q9UP77|Q9Y6L0|Q9Y6L1|Q9Y6L2|Q9Y6L3|Q9Y6L4	Missense_Mutation	SNP	ENST00000374552.4	37	c.1009G>A	CCDS14394.1	1	6.027727546714888E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	35	5.456579	0.96223	.	.	ENSG00000158813	ENST00000374552;ENST00000374553;ENST00000524573	D;D;D	0.94330	-3.4;-3.4;-3.4	5.42	5.42	0.78866	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.000000	0.85682	D	0.000000	D	0.95626	0.8578	L	0.55481	1.735	0.80722	D	1	D;D;D	0.71674	0.997;0.998;0.997	D;D;D	0.70716	0.97;0.964;0.97	D	0.96158	0.9113	10	0.87932	D	0	-15.524	17.1546	0.86787	0.0:0.0:1.0:0.0	.	332;337;335	Q92838-9;Q92838;Q92838-3	.;EDA_HUMAN;.	K	337;335;332	ENSP00000363680:E337K;ENSP00000363681:E335K;ENSP00000432585:E332K	ENSP00000363680:E337K	E	+	1	0	EDA	69172017	1.000000	0.71417	0.954000	0.39281	0.977000	0.68977	9.125000	0.94402	2.261000	0.74972	0.529000	0.55759	GAG		0.552	EDA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057048.2	NM_001399		9	58	0	0	0	0	9	58				
KIF4A	24137	broad.mit.edu	37	X	69639936	69639936	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:69639936G>A	ENST00000374403.3	+	31	3602	c.3520G>A	c.(3520-3522)Gag>Aag	p.E1174K	GDPD2_ENST00000536730.1_5'Flank|GDPD2_ENST00000453994.2_5'Flank|GDPD2_ENST00000538649.1_5'Flank	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	1174	Globular.|Interaction with PRC1.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						GTGCGATGTGGAGCAGGTGCT	0.507																																						uc004dyg.2		NA																	0				ovary(4)	4						c.(3520-3522)GAG>AAG		kinesin family member 4							66.0	64.0	64.0					X																	69639936		2203	4300	6503	SO:0001583	missense	24137				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding	g.chrX:69639936G>A	AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"""Kinesins"""	13339	protein-coding gene	gene with protein product	"""chromokinesin"""	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.3520G>A	X.37:g.69639936G>A	ENSP00000363524:p.Glu1174Lys					KIF4A_uc010nkw.2_Missense_Mutation_p.E1174K	p.E1174K	NM_012310	NP_036442	O95239	KIF4A_HUMAN			31	3647	+			1174			Globular.|Interaction with PRC1.		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	ENST00000374403.3	37	c.3520G>A	CCDS14401.1	.	.	.	.	.	.	.	.	.	.	g	8.950	0.968035	0.18659	.	.	ENSG00000090889	ENST00000374403;ENST00000544650	T	0.51071	0.72	4.37	1.6	0.23607	.	0.894418	0.09411	N	0.805776	T	0.24084	0.0583	N	0.08118	0	0.09310	N	0.999999	B	0.12630	0.006	B	0.14023	0.01	T	0.25745	-1.0123	9	.	.	.	.	5.7041	0.17899	0.1938:0.1575:0.6486:0.0	.	1174	O95239	KIF4A_HUMAN	K	1174;476	ENSP00000363524:E1174K	.	E	+	1	0	KIF4A	69556661	0.016000	0.18221	0.001000	0.08648	0.003000	0.03518	0.475000	0.22164	0.089000	0.17243	-0.920000	0.02741	GAG		0.507	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310		8	59	0	0	0	0	8	59				
DLG3	1741	broad.mit.edu	37	X	69722041	69722041	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:69722041G>C	ENST00000374360.3	+	19	2609	c.2376G>C	c.(2374-2376)gaG>gaC	p.E792D	DLG3_ENST00000374355.3_Missense_Mutation_p.E487D|DLG3_ENST00000542398.1_Missense_Mutation_p.E341D|DLG3_ENST00000461646.1_3'UTR|DLG3_ENST00000194900.4_Missense_Mutation_p.E824D	NM_021120.3	NP_066943.2	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	792	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				axon guidance (GO:0007411)|establishment of planar polarity (GO:0001736)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphatase activity (GO:0010923)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)|tight junction (GO:0005923)	phosphatase binding (GO:0019902)			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					CACTGGAAGAGATTTATAACA	0.443																																						uc004dyi.1		NA																	0				large_intestine(1)|pancreas(1)	2						c.(2374-2376)GAG>GAC		synapse-associated protein 102 isoform a							89.0	75.0	80.0					X																	69722041		2203	4300	6503	SO:0001583	missense	1741				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity	g.chrX:69722041G>C	U49089	CCDS14403.1, CCDS43967.1, CCDS55439.1	Xq13.1	2014-06-12	2008-12-15		ENSG00000082458	ENSG00000082458			2902	protein-coding gene	gene with protein product	"""neuroendocrine-dlg"", ""protein phosphatase 1, regulatory subunit 82"""	300189	"""discs, large homolog 3 (neuroendocrine-dlg, Drosophila)"""			9598320	Standard	NM_021120		Approved	NE-Dlg, SAP102, SAP-102, NEDLG, KIAA1232, MRX90, PPP1R82	uc004dyi.2	Q92796	OTTHUMG00000021778	ENST00000374360.3:c.2376G>C	X.37:g.69722041G>C	ENSP00000363480:p.Glu792Asp					DLG3_uc004dyj.1_Missense_Mutation_p.E487D|DLG3_uc011mpn.1_Missense_Mutation_p.E340D	p.E792D	NM_021120	NP_066943	Q92796	DLG3_HUMAN			19	2704	+	Renal(35;0.156)		792			Guanylate kinase-like.		B4E0H1|D3DVU5|Q5JUW6|Q5JUW7|Q9ULI8	Missense_Mutation	SNP	ENST00000374360.3	37	c.2376G>C	CCDS14403.1	.	.	.	.	.	.	.	.	.	.	G	4.610	0.113291	0.08831	.	.	ENSG00000082458	ENST00000194900;ENST00000374360;ENST00000374355;ENST00000542398	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.24	4.37	0.52481	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.85682	D	0.000000	T	0.22820	0.0551	N	0.13299	0.325	0.50313	D	0.999867	B;B;B	0.20887	0.001;0.003;0.049	B;B;B	0.23716	0.009;0.019;0.048	T	0.08827	-1.0703	9	.	.	.	.	7.6076	0.28112	0.2382:0.0:0.7618:0.0	.	341;487;792	B4E0H1;Q5JUW6;Q92796	.;.;DLG3_HUMAN	D	824;792;487;341	ENSP00000194900:E824D;ENSP00000363480:E792D;ENSP00000363475:E487D;ENSP00000441393:E341D	.	E	+	3	2	DLG3	69638766	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.161000	0.50747	2.574000	0.86865	0.600000	0.82982	GAG		0.443	DLG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057074.2	NM_021120		4	52	0	0	0	0	4	52				
ZMYM3	9203	broad.mit.edu	37	X	70472945	70472945	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:70472945G>A	ENST00000353904.2	-	2	348	c.161C>T	c.(160-162)tCg>tTg	p.S54L	ZMYM3_ENST00000373981.1_Missense_Mutation_p.S54L|ZMYM3_ENST00000373982.1_Missense_Mutation_p.S54L|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373978.1_Missense_Mutation_p.S54L|ZMYM3_ENST00000373998.1_Missense_Mutation_p.S54L|ZMYM3_ENST00000373984.3_Missense_Mutation_p.S54L|ZMYM3_ENST00000373988.1_Missense_Mutation_p.S54L|ZMYM3_ENST00000314425.5_Missense_Mutation_p.S54L	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	54					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CAGGGCTCCCGAGGATGGAGA	0.607											OREG0019858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004dzh.1		NA																	0				ovary(1)	1						c.(160-162)TCG>TTG		zinc finger protein 261							11.0	13.0	13.0					X																	70472945		2185	4263	6448	SO:0001583	missense	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70472945G>A	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.161C>T	X.37:g.70472945G>A	ENSP00000343909:p.Ser54Leu		OREG0019858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1122	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Missense_Mutation_p.S54L|ZMYM3_uc004dzj.1_Missense_Mutation_p.S54L|ZMYM3_uc011mpu.1_5'Flank|ZMYM3_uc004dzk.3_Missense_Mutation_p.S54L|ZMYM3_uc004dzl.3_Missense_Mutation_p.S54L|ZMYM3_uc004dzm.3_Missense_Mutation_p.S54L	p.S54L	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN			2	248	-	Renal(35;0.156)		54					D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	c.161C>T	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	g	13.50	2.256668	0.39896	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988;ENST00000373982;ENST00000373981;ENST00000373978	T;T;T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37;1.37;1.37	4.88	4.88	0.63580	.	0.523110	0.15716	N	0.248137	T	0.17704	0.0425	N	0.14661	0.345	0.29149	N	0.8785	P;B;B	0.39404	0.672;0.0;0.0	B;B;B	0.27887	0.084;0.0;0.0	T	0.09100	-1.0690	10	0.62326	D	0.03	-2.2756	7.8922	0.29684	0.123:0.0:0.877:0.0	.	54;54;54	Q96E26;Q14202-2;Q14202	.;.;ZMYM3_HUMAN	L	54	ENSP00000322845:S54L;ENSP00000363110:S54L;ENSP00000343909:S54L;ENSP00000363096:S54L;ENSP00000363100:S54L;ENSP00000363094:S54L;ENSP00000363093:S54L;ENSP00000363090:S54L	ENSP00000322845:S54L	S	-	2	0	ZMYM3	70389670	1.000000	0.71417	0.997000	0.53966	0.915000	0.54546	5.613000	0.67688	2.016000	0.59253	0.287000	0.19450	TCG		0.607	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		6	51	0	0	0	0	6	51				
KIAA2022	340533	broad.mit.edu	37	X	73960813	73960813	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:73960813C>G	ENST00000055682.6	-	3	4190	c.3579G>C	c.(3577-3579)caG>caC	p.Q1193H		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1193					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TGGTGTTTTTCTGAGAAGAGC	0.428																																						uc004eby.2		NA																	0				ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(3577-3579)CAG>CAC		hypothetical protein LOC340533							79.0	76.0	77.0					X																	73960813		2203	4300	6503	SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73960813C>G		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.3579G>C	X.37:g.73960813C>G	ENSP00000055682:p.Gln1193His						p.Q1193H	NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN			3	4196	-			1193					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.3579G>C	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.599903	0.46318	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.31247	1.5;1.5	4.75	2.82	0.32997	.	0.459579	0.24152	N	0.041068	T	0.35364	0.0929	L	0.29908	0.895	0.35627	D	0.809938	D	0.67145	0.996	P	0.61592	0.891	T	0.45175	-0.9279	10	0.66056	D	0.02	-6.4728	8.5114	0.33220	0.0:0.7198:0.0:0.2802	.	1193	Q5QGS0	K2022_HUMAN	H	1193	ENSP00000362567:Q1193H;ENSP00000055682:Q1193H	ENSP00000055682:Q1193H	Q	-	3	2	KIAA2022	73877538	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.892000	0.39748	1.009000	0.39289	0.600000	0.82982	CAG		0.428	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		17	257	0	0	0	0	17	257				
ATRX	546	broad.mit.edu	37	X	76937131	76937131	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:76937131G>C	ENST00000373344.5	-	9	3831	c.3617C>G	c.(3616-3618)tCt>tGt	p.S1206C	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.S1168C	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1206	Interaction with DAXX.|Poly-Ser.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTCTATATCAGAAGAAGATGA	0.378			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.3		NA		Rec	yes		X	Xq21.1	546	Mis|F|N	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			Pancreatic neuroendocrine tumors		1	Unknown(1)		bone(1)	haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30						c.(3616-3618)TCT>TGT		transcriptional regulator ATRX isoform 1	Phosphatidylserine(DB00144)						177.0	147.0	157.0					X																	76937131		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76937131G>C	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.3617C>G	X.37:g.76937131G>C	ENSP00000362441:p.Ser1206Cys					ATRX_uc004ecq.3_Missense_Mutation_p.S1168C|ATRX_uc004eco.3_Missense_Mutation_p.S991C|ATRX_uc004ecr.2_Missense_Mutation_p.S1138C|ATRX_uc010nlx.1_Missense_Mutation_p.S1177C|ATRX_uc010nly.1_Missense_Mutation_p.S1151C	p.S1206C	NM_000489	NP_000480	P46100	ATRX_HUMAN			9	3849	-			1206			Poly-Ser.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.3617C>G	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.905215	0.33628	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.93366	-3.21;-3.21	5.63	5.63	0.86233	.	1.226980	0.06127	U	0.669839	D	0.95875	0.8657	L	0.40543	1.245	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.80764	0.994;0.912;0.991;0.98	D	0.89717	0.3916	10	0.66056	D	0.02	-8.0707	16.8002	0.85612	0.0:0.0:1.0:0.0	.	1206;1138;1168;1206	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	C	1206;1168;1133	ENSP00000362441:S1206C;ENSP00000378967:S1168C	ENSP00000362441:S1206C	S	-	2	0	ATRX	76823787	1.000000	0.71417	0.997000	0.53966	0.638000	0.38207	3.033000	0.49743	2.343000	0.79666	0.513000	0.50165	TCT		0.378	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		13	320	0	0	0	0	13	320				
TAF9B	51616	broad.mit.edu	37	X	77395061	77395061	+	Silent	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:77395061G>T	ENST00000341864.5	-	1	142	c.48C>A	c.(46-48)gcC>gcA	p.A16A		NM_015975.4	NP_057059.2	Q9HBM6	TAF9B_HUMAN	TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa	16					DNA-templated transcription, initiation (GO:0006352)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell growth (GO:0030307)|programmed cell death (GO:0012501)|protein stabilization (GO:0050821)|response to organic cyclic compound (GO:0014070)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	14						CACTTACCAAGGCATCTCTCG	0.657																																						uc004eda.2		NA																	0					0						c.(46-48)GCC>GCA		transcription associated factor 9B							118.0	98.0	105.0					X																	77395061		2203	4296	6499	SO:0001819	synonymous_variant	51616				negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent	transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding	g.chrX:77395061G>T	AF220509	CCDS35340.1	Xq13.1-q21.1	2010-08-16	2006-01-04	2006-01-04	ENSG00000187325	ENSG00000187325			17306	protein-coding gene	gene with protein product		300754	"""TAF9-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa"""	TAF9L		15899866	Standard	XM_005262142		Approved	TAFII31L, DN-7, DN7, TFIID-31	uc004eda.3	Q9HBM6	OTTHUMG00000021887	ENST00000341864.5:c.48C>A	X.37:g.77395061G>T							p.A16A	NM_015975	NP_057059	Q9HBM6	TAF9B_HUMAN			1	119	-			16					B2RUZ9|Q9Y2S3	Silent	SNP	ENST00000341864.5	37	c.48C>A	CCDS35340.1																																																																																				0.657	TAF9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057308.1	NM_015975		15	222	1	0	4.15e-12	4.55e-12	15	222				
BRWD3	254065	broad.mit.edu	37	X	79999689	79999689	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:79999689G>A	ENST00000373275.4	-	8	871	c.655C>T	c.(655-657)Cgt>Tgt	p.R219C		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	219					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)			p.R219C(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GAGTGTCCACGAAGTGTAGCA	0.403																																						uc004edt.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(4)	4						c.(655-657)CGT>TGT		bromodomain and WD repeat domain containing 3							121.0	108.0	113.0					X																	79999689		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79999689G>A		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.655C>T	X.37:g.79999689G>A	ENSP00000362372:p.Arg219Cys					BRWD3_uc004edo.2_5'UTR|BRWD3_uc004edp.2_Missense_Mutation_p.R48C|BRWD3_uc004edq.2_5'UTR|BRWD3_uc010nmj.1_5'UTR|BRWD3_uc004edr.2_5'UTR|BRWD3_uc004eds.2_5'UTR|BRWD3_uc004edu.2_5'UTR|BRWD3_uc004edv.2_5'UTR|BRWD3_uc004edw.2_5'UTR|BRWD3_uc004edx.2_5'UTR|BRWD3_uc004edy.2_5'UTR|BRWD3_uc004edz.2_5'UTR|BRWD3_uc004eea.2_5'UTR|BRWD3_uc004eeb.2_Intron	p.R219C	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN			8	918	-			219			WD 2.		C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.655C>T	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.962280	0.74016	.	.	ENSG00000165288	ENST00000373275	T	0.20738	2.05	4.42	2.53	0.30540	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);WD40-repeat-containing domain (1);	0.077607	0.52532	D	0.000070	T	0.48021	0.1477	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.50415	-0.8831	9	.	.	.	-8.4293	12.4102	0.55464	0.0:0.0:0.6667:0.3333	.	219	Q6RI45	BRWD3_HUMAN	C	219	ENSP00000362372:R219C	.	R	-	1	0	BRWD3	79886345	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	3.812000	0.55628	0.369000	0.24510	0.415000	0.27848	CGT		0.403	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		12	174	0	0	0	0	12	174				
SYTL4	94121	broad.mit.edu	37	X	99956326	99956326	+	Splice_Site	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:99956326C>T	ENST00000372989.1	-	6	658		c.e6-1		SYTL4_ENST00000455616.1_Splice_Site|SYTL4_ENST00000263033.5_Splice_Site|SYTL4_ENST00000372981.1_Splice_Site|SYTL4_ENST00000454200.2_Splice_Site|SYTL4_ENST00000276141.6_Splice_Site	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CTTCAACTCTCTGGGAAGAAA	0.458																																						uc004egd.3		NA																	0				ovary(2)	2						c.e6-1		synaptotagmin-like 4	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						84.0	79.0	81.0					X																	99956326		2203	4300	6503	SO:0001630	splice_region_variant	94121				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding	g.chrX:99956326C>T		CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362			15588	protein-coding gene	gene with protein product	"""granuphilin-a"", ""exophilin-2"""	300723					Standard	NM_080737		Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372989.1:c.327-1G>A	X.37:g.99956326C>T						SYTL4_uc010nnc.2_Splice_Site_p.I109_splice|SYTL4_uc004ege.3_Splice_Site_p.I109_splice|SYTL4_uc004egf.3_Splice_Site_p.I109_splice|SYTL4_uc004egg.3_Splice_Site_p.I109_splice	p.I109_splice	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN			6	683	-								Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Splice_Site	SNP	ENST00000372989.1	37	c.327_splice	CCDS14472.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.060026	0.76074	.	.	ENSG00000102362	ENST00000372989;ENST00000455616;ENST00000454200;ENST00000276141;ENST00000263033;ENST00000372981	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2242	0.89911	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SYTL4	99842982	1.000000	0.71417	0.997000	0.53966	0.880000	0.50808	7.096000	0.76960	2.429000	0.82318	0.600000	0.82982	.		0.458	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057488.1	NM_080737	Intron	6	70	0	0	0	0	6	70				
RAB40AL	282808	broad.mit.edu	37	X	102192729	102192729	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:102192729C>G	ENST00000218249.5	+	1	530	c.483C>G	c.(481-483)ttC>ttG	p.F161L	LL0XNC01-237H1.3_ENST00000413528.1_RNA	NM_001031834.1	NP_001027004.1	P0C0E4	RB40L_HUMAN	RAB40A, member RAS oncogene family-like	161					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						TGTGCAATTTCAACATCATAG	0.592																																						uc004ejs.2		NA																	0				ovary(2)	2						c.(481-483)TTC>TTG		RAB40A, member RAS oncogene family-like							36.0	37.0	36.0					X																	102192729		2203	4298	6501	SO:0001583	missense	282808				protein transport|small GTPase mediated signal transduction	mitochondrion|plasma membrane	GTP binding	g.chrX:102192729C>G	BC101169	CCDS35353.1	Xq22.2	2008-02-05			ENSG00000102128	ENSG00000102128			25410	protein-coding gene	gene with protein product	"""Ras like GTPase"""	300405					Standard	NM_001031834		Approved	RAR2, RLGP	uc004ejs.3	P0C0E4	OTTHUMG00000022084	ENST00000218249.5:c.483C>G	X.37:g.102192729C>G	ENSP00000218249:p.Phe161Leu						p.F161L	NM_001031834	NP_001027004	P0C0E4	RB40L_HUMAN			1	530	+			161					Q495H3	Missense_Mutation	SNP	ENST00000218249.5	37	c.483C>G	CCDS35353.1	.	.	.	.	.	.	.	.	.	.	.	16.58	3.161967	0.57368	.	.	ENSG00000102128	ENST00000218249	T	0.79141	-1.24	0.819	0.819	0.18785	.	0.000000	0.50627	U	0.000103	T	0.68915	0.3053	N	0.17631	0.505	0.58432	D	0.999999	D	0.53619	0.961	P	0.53518	0.728	T	0.66610	-0.5880	10	0.51188	T	0.08	.	7.2459	0.26121	0.0:0.9999:0.0:1.0E-4	.	161	P0C0E4	RB40L_HUMAN	L	161	ENSP00000218249:F161L	ENSP00000218249:F161L	F	+	3	2	RAB40AL	102079385	1.000000	0.71417	0.391000	0.26233	0.105000	0.19272	1.948000	0.40303	0.682000	0.31407	0.462000	0.41574	TTC		0.592	RAB40AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057679.1	NM_001031834		6	100	0	0	0	0	6	100				
GLRA4	441509	broad.mit.edu	37	X	102979153	102979153	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:102979153G>T	ENST00000372617.4	-	4	767	c.347C>A	c.(346-348)tCt>tAt	p.S116Y	GLRA4_ENST00000469567.1_5'Flank	NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	116						cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GAGGTCCAGAGAGTCATCAGG	0.547																																						uc011mse.1		NA																	0					0						c.(346-348)TCT>TAT		glycine receptor, alpha 4 precursor							128.0	128.0	128.0					X																	102979153		2145	4276	6421	SO:0001583	missense	441509					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chrX:102979153G>T	Z93848	CCDS43980.2	Xq22.2	2012-01-16			ENSG00000188828	ENSG00000188828		"""Ligand-gated ion channels / Glycine receptors"""	31715	protein-coding gene	gene with protein product							Standard	NM_001024452		Approved		uc011mse.2	Q5JXX5	OTTHUMG00000022110	ENST00000372617.4:c.347C>A	X.37:g.102979153G>T	ENSP00000361700:p.Ser116Tyr					GLRA4_uc010nou.2_Missense_Mutation_p.S116Y	p.S116Y	NM_001024452	NP_001019623	Q5JXX5	GLRA4_HUMAN			4	768	-			116			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000372617.4	37	c.347C>A	CCDS43980.2	.	.	.	.	.	.	.	.	.	.	G	19.47	3.833279	0.71258	.	.	ENSG00000188828	ENST00000372617	T	0.80393	-1.37	5.17	5.17	0.71159	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.85071	0.5613	L	0.48362	1.52	0.52501	D	0.999957	P;P	0.48294	0.908;0.908	P;P	0.60345	0.873;0.652	D	0.86563	0.1842	10	0.72032	D	0.01	.	15.022	0.71637	0.0:0.0:1.0:0.0	.	116;75	Q5JXX5;B9WSA6	GLRA4_HUMAN;.	Y	116	ENSP00000361700:S116Y	ENSP00000361700:S116Y	S	-	2	0	GLRA4	102865809	1.000000	0.71417	0.987000	0.45799	0.933000	0.57130	9.869000	0.99810	2.132000	0.65825	0.513000	0.50165	TCT		0.547	GLRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057742.2	NM_001024452		24	243	1	0	1.85e-09	2.01e-09	24	243				
NRK	203447	broad.mit.edu	37	X	105152976	105152976	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:105152976C>T	ENST00000243300.9	+	13	1646	c.1343C>T	c.(1342-1344)cCa>cTa	p.P448L	NRK_ENST00000428173.2_Missense_Mutation_p.P449L	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	448	Gln-rich.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GTGTTCATGCCACTACAGGCT	0.557										HNSCC(51;0.14)																												uc004emd.2		NA																	0				breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						c.(1342-1344)CCA>CTA		Nik related kinase							35.0	37.0	37.0					X																	105152976		2061	4176	6237	SO:0001583	missense	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105152976C>T	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.1343C>T	X.37:g.105152976C>T	ENSP00000434830:p.Pro448Leu	HNSCC(51;0.14)				NRK_uc010npc.1_Missense_Mutation_p.P116L	p.P448L	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN			13	1646	+			448			Gln-rich.		Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37	c.1343C>T		.	.	.	.	.	.	.	.	.	.	C	17.71	3.456703	0.63401	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.24538	1.85;1.85	4.49	4.49	0.54785	.	0.000000	0.49916	D	0.000135	T	0.47451	0.1446	L	0.61218	1.895	0.80722	D	1	D;P	0.89917	1.0;0.799	D;P	0.91635	0.999;0.506	T	0.46190	-0.9209	10	0.66056	D	0.02	.	14.0168	0.64529	0.0:1.0:0.0:0.0	.	116;448	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	L	448;449	ENSP00000434830:P448L;ENSP00000438378:P449L	ENSP00000434830:P448L	P	+	2	0	NRK	105039632	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.018000	0.49625	2.481000	0.83766	0.600000	0.82982	CCA		0.557	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		10	70	0	0	0	0	10	70				
PRPS1	5631	broad.mit.edu	37	X	106885676	106885676	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:106885676G>T	ENST00000372435.4	+	4	608	c.486G>T	c.(484-486)tgG>tgT	p.W162C	PRPS1_ENST00000372428.4_Missense_Mutation_p.W95C|PRPS1_ENST00000372418.1_Missense_Mutation_p.W62C|PRPS1_ENST00000543248.1_Missense_Mutation_p.W162C	NM_002764.3	NP_002755.1	P60891	PRPS1_HUMAN	phosphoribosyl pyrophosphate synthetase 1	162					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|hypoxanthine biosynthetic process (GO:0046101)|nervous system development (GO:0007399)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|pyrimidine nucleotide biosynthetic process (GO:0006221)|ribonucleoside monophosphate biosynthetic process (GO:0009156)|small molecule metabolic process (GO:0044281)|urate biosynthetic process (GO:0034418)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	23						TCTCTGAGTGGAGGAACTGCA	0.433																																						uc004ene.3		NA																	0				breast(3)|large_intestine(1)	4						c.(484-486)TGG>TGT		phosphoribosyl pyrophosphate synthetase 1							157.0	132.0	141.0					X																	106885676		2203	4300	6503	SO:0001583	missense	5631				5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process	cytosol	ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chrX:106885676G>T	X15331	CCDS14529.1, CCDS76007.1	Xq22.3	2014-09-17			ENSG00000147224	ENSG00000147224	2.7.6.1		9462	protein-coding gene	gene with protein product	"""PRS I"", ""ribose-phosphate diphosphokinase 1"""	311850	"""deafness, X-linked 2, perceptive, congenital"""	DFN2		1962753, 20021999	Standard	NM_002764		Approved	CMTX5, DFNX1	uc004ene.4	P60891	OTTHUMG00000022167	ENST00000372435.4:c.486G>T	X.37:g.106885676G>T	ENSP00000361512:p.Trp162Cys					PRPS1_uc010npg.2_Missense_Mutation_p.W129C|PRPS1_uc011msj.1_Intron	p.W162C	NM_002764	NP_002755	P60891	PRPS1_HUMAN			4	691	+			162					B1ALA8|B2R6T7|B4DNL6|D3DUX6|P09329	Missense_Mutation	SNP	ENST00000372435.4	37	c.486G>T	CCDS14529.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.322410	0.60634	.	.	ENSG00000147224	ENST00000372435;ENST00000372428;ENST00000543248;ENST00000372418	D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.54	4.51	3.64	0.41730	Phosphoribosyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.94719	0.8296	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	D	0.94279	0.7518	10	0.56958	D	0.05	.	11.4216	0.49985	0.0927:0.0:0.9073:0.0	.	162;162	Q53FW2;P60891	.;PRPS1_HUMAN	C	162;95;162;62	ENSP00000361512:W162C;ENSP00000361505:W95C;ENSP00000443185:W162C;ENSP00000361495:W62C	ENSP00000361495:W62C	W	+	3	0	PRPS1	106772332	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.357000	0.97099	0.989000	0.38761	0.544000	0.68410	TGG		0.433	PRPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057840.1			21	203	1	0	2.38e-13	2.61e-13	21	203				
MID2	11043	broad.mit.edu	37	X	107084402	107084402	+	Silent	SNP	G	G	A	rs376601333		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:107084402G>A	ENST00000262843.6	+	2	1055	c.507G>A	c.(505-507)acG>acA	p.T169T	MID2_ENST00000443968.2_Silent_p.T169T	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	169					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						TGCGGGCCACGCACCCCAACA	0.552																																						uc004enl.2		NA																	0				ovary(1)	1						c.(505-507)ACG>ACA		midline 2 isoform 1							57.0	49.0	52.0					X																	107084402		2203	4300	6503	SO:0001819	synonymous_variant	11043					centrosome|microtubule	ligase activity|zinc ion binding	g.chrX:107084402G>A		CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.507G>A	X.37:g.107084402G>A						MID2_uc004enk.2_Silent_p.T169T	p.T169T	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN			2	1080	+			169			B box-type 1; degenerate.		A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Silent	SNP	ENST00000262843.6	37	c.507G>A	CCDS14532.2																																																																																				0.552	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2	NM_012216		8	72	0	0	0	0	8	72				
KCNE1L	23630	broad.mit.edu	37	X	108868222	108868222	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:108868222G>A	ENST00000372101.2	-	1	171	c.28C>T	c.(28-30)Cga>Tga	p.R10*		NM_012282.2	NP_036414.1	Q9UJ90	KCE1L_HUMAN	KCNE1-like	10					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cation channel activity (GO:2001257)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|ventricular cardiac muscle cell action potential (GO:0086005)	voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						AGAAGGGTTCGCAGCCGCTGG	0.682																																						uc004eoh.2		NA																	0					0						c.(28-30)CGA>TGA		potassium voltage-gated channel, Isk-related							9.0	10.0	10.0					X																	108868222		2155	4221	6376	SO:0001587	stop_gained	23630				regulation of heart contraction	voltage-gated potassium channel complex		g.chrX:108868222G>A	AJ012743	CCDS14547.1	Xq22.3	2008-02-05	2004-06-09		ENSG00000176076	ENSG00000176076		"""Potassium channels"""	6241	protein-coding gene	gene with protein product		300328	"""potassium voltage-gated channel, Isk-related family, member 1-like"""			10493825	Standard	NM_012282		Approved		uc004eoh.3	Q9UJ90	OTTHUMG00000022189	ENST00000372101.2:c.28C>T	X.37:g.108868222G>A	ENSP00000361173:p.Arg10*						p.R10*	NM_012282	NP_036414	Q9UJ90	KCE1L_HUMAN			1	172	-			10						Nonsense_Mutation	SNP	ENST00000372101.2	37	c.28C>T	CCDS14547.1	.	.	.	.	.	.	.	.	.	.	G	35	5.575665	0.96553	.	.	ENSG00000176076	ENST00000372101	.	.	.	4.08	3.18	0.36537	.	0.443773	0.17841	N	0.160219	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.2227	10.749	0.46198	0.0:0.0:0.6573:0.3427	.	.	.	.	X	10	.	ENSP00000361173:R10X	R	-	1	2	KCNE1L	108754878	0.997000	0.39634	0.986000	0.45419	0.971000	0.66376	2.389000	0.44407	1.020000	0.39573	0.523000	0.50628	CGA		0.682	KCNE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057892.1	NM_012282		3	17	0	0	0	0	3	17				
ALG13	79868	broad.mit.edu	37	X	110924449	110924449	+	Start_Codon_SNP	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:110924449G>T	ENST00000394780.3	+	1	15	c.3G>T	c.(1-3)atG>atT	p.M1I	ALG13_ENST00000371979.3_Start_Codon_SNP_p.M1I|ALG13_ENST00000251943.4_5'UTR	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	1	Glycosyltransferase activity.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						CCCGCGCCATGAAGTGCGTGT	0.602																																						uc011msy.1		NA																	0				lung(1)	1						c.(1-3)ATG>ATT		SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae);							217.0	169.0	186.0					X																	110924449		2203	4300	6503	SO:0001582	initiator_codon_variant	79868				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	g.chrX:110924449G>T	AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.3G>T	X.37:g.110924449G>T	ENSP00000378260:p.Met1Ile					ALG13_uc004epi.1_Missense_Mutation_p.M1I|ALG13_uc011msw.1_5'UTR|ALG13_uc011msx.1_5'UTR|ALG13_uc011msz.1_5'UTR|ALG13_uc011mta.1_5'UTR|ALG13_uc011mtb.1_5'UTR	p.M1I			Q9NP73	ALG13_HUMAN			1	37	+			1					B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Missense_Mutation	SNP	ENST00000394780.3	37	c.3G>T	CCDS55477.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.424875	0.62733	.	.	ENSG00000101901	ENST00000371979;ENST00000486353;ENST00000394780	T;T;T	0.80214	-1.02;-1.35;0.3	5.23	5.23	0.72850	.	.	.	.	.	D	0.89378	0.6698	.	.	.	0.80722	D	1	D;D	0.89917	0.982;1.0	P;D	0.87578	0.628;0.998	D	0.89959	0.4085	8	0.54805	T	0.06	.	15.6515	0.77099	0.0:0.0:1.0:0.0	.	1;1	Q9NP73;Q9NP73-2	ALG13_HUMAN;.	I	1	ENSP00000361047:M1I;ENSP00000426892:M1I;ENSP00000378260:M1I	ENSP00000361047:M1I	M	+	3	0	ALG13	110811105	1.000000	0.71417	0.992000	0.48379	0.507000	0.33981	7.702000	0.84576	2.419000	0.82065	0.600000	0.82982	ATG		0.602	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466	Missense_Mutation	27	327	1	0	9.04e-19	9.99e-19	27	327				
DOCK11	139818	broad.mit.edu	37	X	117758580	117758580	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:117758580C>G	ENST00000276202.7	+	32	3613	c.3550C>G	c.(3550-3552)Cga>Gga	p.R1184G	DOCK11_ENST00000276204.6_Missense_Mutation_p.R1184G	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1184					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						ATTAGCAGGTCGAGATACCTT	0.358																																						uc004eqp.2		NA																	0				ovary(3)	3						c.(3550-3552)CGA>GGA		dedicator of cytokinesis 11							170.0	158.0	162.0					X																	117758580		2203	4300	6503	SO:0001583	missense	139818				blood coagulation	cytosol	GTP binding	g.chrX:117758580C>G	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.3550C>G	X.37:g.117758580C>G	ENSP00000276202:p.Arg1184Gly					DOCK11_uc004eqq.2_Missense_Mutation_p.R963G	p.R1184G	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN			32	3613	+			1184					A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	c.3550C>G	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.544196	0.45280	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.18502	2.21;2.21	5.53	4.65	0.58169	.	0.283082	0.33792	N	0.004556	T	0.15176	0.0366	L	0.49126	1.545	0.36599	D	0.87454	P;P	0.43094	0.799;0.799	B;B	0.38264	0.269;0.269	T	0.17868	-1.0355	10	0.23302	T	0.38	-7.4028	10.6932	0.45884	0.148:0.7127:0.1394:0.0	.	1184;1184	A6NIW2;Q5JSL3	.;DOC11_HUMAN	G	1184	ENSP00000276204:R1184G;ENSP00000276202:R1184G	ENSP00000276202:R1184G	R	+	1	2	DOCK11	117642608	0.999000	0.42202	1.000000	0.80357	0.982000	0.71751	2.288000	0.43514	1.190000	0.43042	0.594000	0.82650	CGA		0.358	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		28	365	0	0	0	0	28	365				
SEPT6	23157	broad.mit.edu	37	X	118786948	118786948	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:118786948C>G	ENST00000343984.5	-	4	661	c.397G>C	c.(397-399)Gag>Cag	p.E133Q	SEPT6_ENST00000354228.4_Missense_Mutation_p.E133Q|SEPT6_ENST00000360156.7_Missense_Mutation_p.E133Q|SEPT6_ENST00000354416.3_Missense_Mutation_p.E133Q|SEPT6_ENST00000394616.4_Missense_Mutation_p.E75Q|SEPT6_ENST00000489216.1_Missense_Mutation_p.E133Q|SEPT6_ENST00000394610.1_Missense_Mutation_p.E133Q|SEPT6_ENST00000394617.2_Missense_Mutation_p.E163Q	NM_015129.5	NP_055944.2	Q14141	SEPT6_HUMAN	septin 6	133	Septin-type G.				cytokinesis (GO:0000910)|viral process (GO:0016032)	axon terminus (GO:0043679)|kinetochore (GO:0000776)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)	GTP binding (GO:0005525)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						ATCTTTAGCTCTTCCTGCAGG	0.507			T	MLL	AML																																	uc004erv.2		NA		Dom	yes		X	Xq24	23157		septin 6			L					0				lung(1)|ovary(1)|prostate(1)|kidney(1)	4						c.(397-399)GAG>CAG		septin 6 isoform B							250.0	191.0	211.0					X																	118786948		2203	4300	6503	SO:0001583	missense	23157				cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding	g.chrX:118786948C>G	D50918	CCDS14583.1, CCDS14584.1, CCDS14585.1	Xq24	2013-01-21			ENSG00000125354	ENSG00000125354		"""Septins"""	15848	protein-coding gene	gene with protein product		300683				8590280, 10744683	Standard	NM_015129		Approved	KIAA0128, SEP2, SEPT2, MGC16619, MGC20339	uc004erv.3	Q14141	OTTHUMG00000022280	ENST00000343984.5:c.397G>C	X.37:g.118786948C>G	ENSP00000341524:p.Glu133Gln					SEPT6_uc010nqk.2_RNA|SEPT6_uc004ers.2_Missense_Mutation_p.E133Q|SEPT6_uc004ert.2_Missense_Mutation_p.E133Q|SEPT6_uc004eru.2_Missense_Mutation_p.E133Q|SEPT6_uc004erw.2_Missense_Mutation_p.E75Q|SEPT6_uc011mtv.1_Missense_Mutation_p.E75Q|SEPT6_uc011mtw.1_Missense_Mutation_p.E163Q	p.E133Q	NM_015129	NP_055944	Q14141	SEPT6_HUMAN			4	662	-			133					Q5JTK0|Q969W5|Q96A13|Q96GR1|Q96P86|Q96P87	Missense_Mutation	SNP	ENST00000343984.5	37	c.397G>C	CCDS14584.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.021048	0.93462	.	.	ENSG00000125354	ENST00000360156;ENST00000354228;ENST00000489216;ENST00000354416;ENST00000394610;ENST00000343984;ENST00000394616;ENST00000394617;ENST00000520510	T;T;T;T;T;T;T;T	0.61742	0.08;0.08;0.08;0.08;0.08;0.08;0.08;0.08	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.84133	0.5405	H	0.96301	3.8	0.80722	D	1	D;D;D;P	0.76494	0.999;0.988;0.999;0.92	D;D;D;P	0.91635	0.998;0.974;0.999;0.795	D	0.89338	0.3652	10	0.87932	D	0	.	17.5034	0.87738	0.0:1.0:0.0:0.0	.	163;75;133;133	F5H1J5;B4E049;Q14141;Q548C9	.;.;SEPT6_HUMAN;.	Q	133;133;133;133;133;133;75;163;133	ENSP00000353278:E133Q;ENSP00000346169:E133Q;ENSP00000418715:E133Q;ENSP00000346397:E133Q;ENSP00000378108:E133Q;ENSP00000341524:E133Q;ENSP00000378114:E75Q;ENSP00000378115:E163Q	ENSP00000341524:E133Q	E	-	1	0	SEPT6	118670976	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.487000	0.81328	2.349000	0.79799	0.600000	0.82982	GAG		0.507	SEPT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058059.1	NM_145802		14	145	0	0	0	0	14	145				
CT47B1	643311	broad.mit.edu	37	X	120009419	120009419	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:120009419C>T	ENST00000371311.3	-	1	360	c.106G>A	c.(106-108)Ggc>Agc	p.G36S		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	36										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CCGGAGTCGCCGCCCTCCTGG	0.731																																						uc011muc.1		NA																	0					0						c.(106-108)GGC>AGC		cancer/testis antigen family 147, member B1							3.0	4.0	4.0					X																	120009419		551	1366	1917	SO:0001583	missense	643311							g.chrX:120009419C>T		CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"""cancer/testis CT47 family, member 13"""	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.106G>A	X.37:g.120009419C>T	ENSP00000360360:p.Gly36Ser						p.G36S	NM_001145718	NP_001139190	P0C2W7	CT47B_HUMAN			1	361	-			36					A6NM97	Missense_Mutation	SNP	ENST00000371311.3	37	c.106G>A	CCDS48161.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.131291	0.37630	.	.	ENSG00000236446	ENST00000371311	.	.	.	2.19	-4.39	0.03611	.	2.279350	0.02596	N	0.100503	T	0.28928	0.0718	N	0.17082	0.46	0.09310	N	1	D	0.76494	0.999	D	0.63381	0.914	T	0.28427	-1.0044	9	0.36615	T	0.2	.	0.5673	0.00689	0.1992:0.3246:0.1581:0.3181	.	36	P0C2W7	CT47B_HUMAN	S	36	.	ENSP00000360360:G36S	G	-	1	0	CT47B1	119893447	0.000000	0.05858	0.000000	0.03702	0.152000	0.21847	-1.366000	0.02585	-2.168000	0.00778	0.171000	0.16805	GGC		0.731	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058121.1	NM_001145718		13	104	0	0	0	0	13	104				
THOC2	57187	broad.mit.edu	37	X	122758480	122758480	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:122758480T>C	ENST00000245838.8	-	26	3129	c.3098A>G	c.(3097-3099)gAa>gGa	p.E1033G	THOC2_ENST00000491737.1_Missense_Mutation_p.E918G|THOC2_ENST00000355725.4_Missense_Mutation_p.E1033G	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1033					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GGCTTCATTTTCAGTACAGCT	0.348																																						uc004etu.2		NA																	0				ovary(3)	3						c.(3097-3099)GAA>GGA		THO complex 2							195.0	179.0	184.0					X																	122758480		1861	4094	5955	SO:0001583	missense	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122758480T>C	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.3098A>G	X.37:g.122758480T>C	ENSP00000245838:p.Glu1033Gly					THOC2_uc004etw.1_5'Flank	p.E1033G	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN			26	3130	-			1033					A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	c.3098A>G	CCDS43988.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.03|19.03	3.748137|3.748137	0.69533|0.69533	.|.	.|.	ENSG00000125676|ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737|ENST00000438358	.|.	.|.	.|.	5.67|5.67	5.67|5.67	0.87782|0.87782	THO complex, subunitTHOC2, C-terminal (1);|.	0.000000|.	0.64402|.	D|.	0.000002|.	D|.	0.84906|.	0.5576|.	M|M	0.92459|0.92459	3.31|3.31	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|.	0.88639|.	0.3174|.	9|.	0.59425|.	D|.	0.04|.	-18.6796|-18.6796	14.9056|14.9056	0.70715|0.70715	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1033|.	Q8NI27|.	THOC2_HUMAN|.	G|W	1033;1033;918|105	.|.	ENSP00000245838:E1033G|.	E|X	-|-	2|3	0|0	THOC2|THOC2	122586161|122586161	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	8.040000|8.040000	0.89188|0.89188	1.902000|1.902000	0.55061|0.55061	0.486000|0.486000	0.48141|0.48141	GAA|TGA		0.348	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			17	350	0	0	0	0	17	350				
ACTRT1	139741	broad.mit.edu	37	X	127185700	127185700	+	Silent	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:127185700G>T	ENST00000371124.3	-	1	682	c.486C>A	c.(484-486)gtC>gtA	p.V162V		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	162						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CAGTGCAAGTGACCCCATCTC	0.582																																						uc004eum.2		NA																	0				ovary(2)|central_nervous_system(2)|skin(1)	5						c.(484-486)GTC>GTA		actin-related protein T1							131.0	117.0	122.0					X																	127185700		2203	4300	6503	SO:0001819	synonymous_variant	139741					cytoplasm|cytoskeleton		g.chrX:127185700G>T	AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.486C>A	X.37:g.127185700G>T							p.V162V	NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN			1	683	-			162					Q6X7C1|Q96L10	Silent	SNP	ENST00000371124.3	37	c.486C>A	CCDS14611.1																																																																																				0.582	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289		14	293	1	0	3.27e-08	3.5e-08	14	293				
SLC25A14	9016	broad.mit.edu	37	X	129483264	129483264	+	Silent	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:129483264C>A	ENST00000218197.5	+	4	584	c.357C>A	c.(355-357)acC>acA	p.T119T	SLC25A14_ENST00000467496.1_3'UTR|SLC25A14_ENST00000361980.5_Silent_p.T116T|SLC25A14_ENST00000543953.1_Silent_p.T84T|SLC25A14_ENST00000339231.3_Silent_p.T116T|SLC25A14_ENST00000545805.1_Silent_p.T119T	NM_001282195.1|NM_001282196.1|NM_001282198.1	NP_001269124.1|NP_001269125.1|NP_001269127.1	O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	119					aerobic respiration (GO:0009060)|mitochondrial transport (GO:0006839)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						CATATGGCACCATTAAAATTG	0.343																																						uc004evn.1		NA																	0				ovary(1)	1						c.(355-357)ACC>ACA		solute carrier family 25, member 14 isoform							125.0	100.0	108.0					X																	129483264		2203	4300	6503	SO:0001819	synonymous_variant	9016				aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding	g.chrX:129483264C>A	AF078544	CCDS14623.1, CCDS14624.1, CCDS76020.1, CCDS76021.1	Xq24	2013-05-22			ENSG00000102078	ENSG00000102078		"""Solute carriers"""	10984	protein-coding gene	gene with protein product		300242				9852133	Standard	XM_005262485		Approved	BMCP1, UCP5	uc004evp.1	O95258	OTTHUMG00000022394	ENST00000218197.5:c.357C>A	X.37:g.129483264C>A						SLC25A14_uc011mut.1_Silent_p.T84T|SLC25A14_uc011muu.1_Silent_p.T119T|SLC25A14_uc010nrg.2_Silent_p.T116T|SLC25A14_uc004evo.1_5'UTR|SLC25A14_uc004evp.1_Silent_p.T119T|SLC25A14_uc004evq.1_Silent_p.T116T|SLC25A14_uc004evr.1_Silent_p.T116T	p.T119T	NM_003951	NP_003942	O95258	UCP5_HUMAN			5	570	+			119			Solcar 1.|Helical; Name=2; (Potential).		D3DTG2|Q0VDH7|Q9HC60|Q9HC61	Silent	SNP	ENST00000218197.5	37	c.357C>A	CCDS14623.1																																																																																				0.343	SLC25A14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058253.1	NM_022810, NM_003951		11	130	1	0	0.00829132	0.00840967	11	130				
IGSF1	3547	broad.mit.edu	37	X	130409661	130409661	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:130409661C>T	ENST00000361420.3	-	16	3054	c.2975G>A	c.(2974-2976)cGa>cAa	p.R992Q	IGSF1_ENST00000370904.1_Missense_Mutation_p.R983Q|IGSF1_ENST00000370910.1_Missense_Mutation_p.R983Q|IGSF1_ENST00000370903.3_Missense_Mutation_p.R997Q|IGSF1_ENST00000467244.1_5'Flank			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	992	Ig-like C2-type 10.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GACCGGCCCTCGGCACCAGAG	0.522																																						uc004ewd.2		NA																	0				ovary(3)|lung(1)|central_nervous_system(1)	5						c.(2974-2976)CGA>CAA		immunoglobulin superfamily, member 1 isoform 1							116.0	104.0	108.0					X																	130409661		2203	4300	6503	SO:0001583	missense	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130409661C>T	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.2975G>A	X.37:g.130409661C>T	ENSP00000355010:p.Arg992Gln					IGSF1_uc004ewe.3_Missense_Mutation_p.R986Q|IGSF1_uc004ewf.2_Missense_Mutation_p.R972Q	p.R992Q	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN			16	3213	-			992			Extracellular (Potential).|Ig-like C2-type 10.		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.2975G>A	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	C	0.283	-0.985347	0.02180	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.11063	2.81;2.81;2.81;2.81	5.19	2.41	0.29592	Immunoglobulin-like fold (1);	0.627180	0.13677	N	0.370469	T	0.02970	0.0088	N	0.02315	-0.6	0.09310	N	0.999992	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.09377	0.001;0.004;0.001	T	0.44907	-0.9297	10	0.06236	T	0.91	.	4.0535	0.09806	0.0:0.1105:0.2076:0.6819	.	983;436;992	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	Q	983;992;983;997	ENSP00000359947:R983Q;ENSP00000355010:R992Q;ENSP00000359941:R983Q;ENSP00000359940:R997Q	ENSP00000355010:R992Q	R	-	2	0	IGSF1	130237342	0.996000	0.38824	1.000000	0.80357	0.622000	0.37654	0.281000	0.18810	0.842000	0.35045	-0.513000	0.04457	CGA		0.522	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			17	228	0	0	0	0	17	228				
CD40LG	959	broad.mit.edu	37	X	135741392	135741392	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:135741392G>C	ENST00000370629.2	+	5	660	c.604G>C	c.(604-606)Gag>Cag	p.E202Q	CD40LG_ENST00000370628.2_Missense_Mutation_p.E181Q	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	202					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|immunoglobulin secretion (GO:0048305)|inflammatory response (GO:0006954)|isotype switching (GO:0045190)|leukocyte cell-cell adhesion (GO:0007159)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of interleukin-12 production (GO:0032735)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CD40 receptor binding (GO:0005174)			endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)					CGGTAGATTCGAGAGAATCTT	0.483									Immune Deficiency with Hyper-IgM																													uc004faa.2		NA																	0				skin(1)	1	GRCh37	CM962551	CD40LG	M		c.(604-606)GAG>CAG		CD40 ligand	Atorvastatin(DB01076)						212.0	209.0	210.0					X																	135741392		2203	4300	6503	SO:0001583	missense	959	Immune_Deficiency_with_Hyper-IgM	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding	g.chrX:135741392G>C	X67878	CCDS14659.1	Xq26	2014-09-17	2008-08-01	2005-01-14	ENSG00000102245	ENSG00000102245		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"", ""Endogenous ligands"""	11935	protein-coding gene	gene with protein product	"""CD40 antigen ligand"", ""tumor necrosis factor (ligand) superfamily member 5"", ""T-B cell-activating molecule"", ""TNF-related activation protein"", ""hyper-IgM syndrome"""	300386	"""tumor necrosis factor (ligand) superfamily, member 5 (hyper-IgM syndrome)"""	HIGM1, IMD3, TNFSF5		1427881, 7678782	Standard	NM_000074		Approved	CD40L, TRAP, gp39, hCD40L, CD154	uc004faa.3	P29965	OTTHUMG00000022512	ENST00000370629.2:c.604G>C	X.37:g.135741392G>C	ENSP00000359663:p.Glu202Gln					CD40LG_uc010nsd.2_Missense_Mutation_p.E181Q	p.E202Q	NM_000074	NP_000065	P29965	CD40L_HUMAN			5	676	+	Acute lymphoblastic leukemia(192;0.000127)		202			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000370629.2	37	c.604G>C	CCDS14659.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.528411	0.64860	.	.	ENSG00000102245	ENST00000370629;ENST00000370628	D;D	0.94497	-3.44;-3.44	5.56	5.56	0.83823	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.178417	0.47455	D	0.000237	D	0.96284	0.8788	L	0.56769	1.78	0.39687	D	0.970993	D;D	0.76494	0.999;0.998	D;D	0.67725	0.953;0.944	D	0.95955	0.8957	10	0.36615	T	0.2	0.1655	18.1588	0.89702	0.0:0.0:1.0:0.0	.	181;202	Q3L8U2;P29965	.;CD40L_HUMAN	Q	202;181	ENSP00000359663:E202Q;ENSP00000359662:E181Q	ENSP00000359662:E181Q	E	+	1	0	CD40LG	135569058	1.000000	0.71417	0.925000	0.36789	0.614000	0.37383	5.075000	0.64407	2.331000	0.79229	0.600000	0.82982	GAG		0.483	CD40LG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058501.1	NM_000074		55	494	0	0	0	0	55	494				
SOX3	6658	broad.mit.edu	37	X	139586056	139586056	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:139586056C>T	ENST00000370536.2	-	1	1169	c.1170G>A	c.(1168-1170)caG>caA	p.Q390Q		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	390					central nervous system development (GO:0007417)|face development (GO:0060324)|hypothalamus development (GO:0021854)|negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|sensory organ development (GO:0007423)|Sertoli cell development (GO:0060009)|sex determination (GO:0007530)|spermatid differentiation (GO:0048515)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					GGCACGCGCGCTGAGAGTGCG	0.746																																						uc004fbd.1		NA																	0				pancreas(1)	1						c.(1168-1170)CAG>CAA		SRY (sex determining region Y)-box 3							7.0	9.0	8.0					X																	139586056		1938	3817	5755	SO:0001819	synonymous_variant	6658				face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding	g.chrX:139586056C>T		CCDS14669.1	Xq27.1	2013-10-17			ENSG00000134595	ENSG00000134595		"""SRY (sex determining region Y)-boxes"""	11199	protein-coding gene	gene with protein product		313430	"""panhypopituitarism"""	PHP		15800844	Standard	NM_005634		Approved		uc004fbd.1	P41225	OTTHUMG00000022544	ENST00000370536.2:c.1170G>A	X.37:g.139586056C>T							p.Q390Q	NM_005634	NP_005625	P41225	SOX3_HUMAN			1	1170	-	Acute lymphoblastic leukemia(192;7.65e-05)		390					P35714|Q5JWI3|Q9NP49	Silent	SNP	ENST00000370536.2	37	c.1170G>A	CCDS14669.1																																																																																				0.746	SOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058577.1			4	13	0	0	0	0	4	13				
MAGEA8	4107	broad.mit.edu	37	X	149013598	149013598	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:149013598C>T	ENST00000542674.1	+	3	1073	c.552C>T	c.(550-552)tgC>tgT	p.C184C	MAGEA8_ENST00000535454.1_Silent_p.C184C|MAGEA8_ENST00000286482.1_Silent_p.C184C	NM_001166401.1	NP_001159873.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	184	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					TTGTCACCTGCCTGGGCCTCT	0.552																																						uc004fdw.1		NA																	0					0						c.(550-552)TGC>TGT		melanoma antigen family A, 8							71.0	63.0	66.0					X																	149013598		2203	4298	6501	SO:0001819	synonymous_variant	4107							g.chrX:149013598C>T		CCDS14692.1	Xq28	2009-03-13			ENSG00000156009	ENSG00000156009			6806	protein-coding gene	gene with protein product	"""MAGE-8 antigen"", ""cancer/testis antigen family 1, member 8"""	300341		MAGE8		8575766	Standard	NM_005364		Approved	MGC2182, CT1.8	uc004fdw.2	P43361	OTTHUMG00000022635	ENST00000542674.1:c.552C>T	X.37:g.149013598C>T							p.C184C	NM_005364	NP_005355	P43361	MAGA8_HUMAN			3	767	+	Acute lymphoblastic leukemia(192;6.56e-05)		184			MAGE.		Q9BUN9	Silent	SNP	ENST00000542674.1	37	c.552C>T	CCDS14692.1																																																																																				0.552	MAGEA8-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058728.1	NM_005364		6	102	0	0	0	0	6	102				
FLNA	2316	broad.mit.edu	37	X	153577807	153577807	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:153577807A>G	ENST00000369850.3	-	47	7915	c.7679T>C	c.(7678-7680)gTg>gCg	p.V2560A	FLNA_ENST00000422373.1_Missense_Mutation_p.V2552A|FLNA_ENST00000498491.1_5'UTR|FLNA_ENST00000344736.4_Missense_Mutation_p.V2520A|FLNA_ENST00000360319.4_Missense_Mutation_p.V2552A|FLNA_ENST00000369856.3_Missense_Mutation_p.V693A	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	2560	Self-association site, tail.				actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTTGGCCACCACCTTGCTGGC	0.652																																						uc004fkk.2		NA																	0				breast(6)	6						c.(7678-7680)GTG>GCG		filamin A, alpha isoform 2							49.0	53.0	52.0					X																	153577807		1917	4109	6026	SO:0001583	missense	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153577807A>G	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.7679T>C	X.37:g.153577807A>G	ENSP00000358866:p.Val2560Ala					FLNA_uc004fki.2_Missense_Mutation_p.V600A|FLNA_uc011mzn.1_Missense_Mutation_p.V693A|FLNA_uc010nuu.1_Missense_Mutation_p.V2552A	p.V2560A	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			47	7928	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		2560			Self-association site, tail.|Filamin 24.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.7679T>C	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	A	15.57	2.874028	0.51695	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000369856;ENST00000344736	D;D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07;-2.07	5.92	5.92	0.95590	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	D	0.93795	0.8016	M	0.92459	3.31	0.53005	D	0.999966	B;B;D;D	0.71674	0.258;0.444;0.998;0.998	B;B;D;D	0.72625	0.055;0.219;0.978;0.978	D	0.94191	0.7441	10	0.42905	T	0.14	.	15.3297	0.74196	1.0:0.0:0.0:0.0	.	693;2552;2560;2560	E9PHF0;P21333-2;P21333;E9KL45	.;.;FLNA_HUMAN;.	A	2552;2228;2552;2560;693;2520	ENSP00000353467:V2552A;ENSP00000416926:V2552A;ENSP00000358866:V2560A;ENSP00000358872:V693A;ENSP00000358863:V2520A	ENSP00000358863:V2520A	V	-	2	0	FLNA	153231001	1.000000	0.71417	1.000000	0.80357	0.123000	0.20343	9.200000	0.95010	2.004000	0.58718	0.430000	0.28490	GTG		0.652	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			17	176	0	0	0	0	17	176				
NPHP4	261734	broad.mit.edu	37	1	5964821	5964822	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:5964821_5964822delAC	ENST00000378156.4	-	16	2263_2264	c.1998_1999delGT	c.(1996-2001)gtgtatfs	p.Y667fs	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	667					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		AAGGTGAAATACACAGTCTTTG	0.589																																						uc001alq.1		NA																	0				pancreas(1)	1						c.(1996-2001)GTGTATfs		nephroretinin																																				SO:0001589	frameshift_variant	261734				actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	g.chr1:5964821_5964822delAC	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.1998_1999delGT	1.37:g.5964823_5964824delAC	ENSP00000367398:p.Tyr667fs					NPHP4_uc001als.1_RNA|NPHP4_uc009vlt.1_RNA|NPHP4_uc001alt.1_RNA|NPHP4_uc009vlu.1_RNA	p.V666fs	NM_015102	NP_055917	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	16	2264_2265	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	666_667					Q8IWC0	Frame_Shift_Del	DEL	ENST00000378156.4	37	c.1998_1999delGT	CCDS44052.1																																																																																				0.589	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			11	111	NA	NA	NA	NA	11	111	---	---	---	---
RPL22	6146	broad.mit.edu	37	1	6257785	6257785	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:6257785delT	ENST00000234875.4	-	2	82	c.44delA	c.(43-45)aagfs	p.K16fs	RPL22_ENST00000497965.1_5'UTR|RPL22_ENST00000484532.1_5'UTR	NM_000983.3	NP_000974.1	P35268	RL22_HUMAN	ribosomal protein L22	16					alpha-beta T cell differentiation (GO:0046632)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	heparin binding (GO:0008201)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.K15fs*5(1)		kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		AACTTGCTTCTTTTTTTTGCC	0.398			T	RUNX1	"""AML, CML"""																																	uc001amd.2		NA		Dom	yes		1	1p36.31	6146	T	ribosomal protein L22 (EAP)			L	RUNX1		AML|CML		1	Deletion - Frameshift(1)		large_intestine(1)		0						c.(43-45)AAGfs		ribosomal protein L22 proprotein							62.0	55.0	57.0					1																	6257785		2203	4300	6503	SO:0001589	frameshift_variant	6146				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|RNA binding|structural constituent of ribosome	g.chr1:6257785delT	BC058887	CCDS58.1	1p36.31	2011-04-06			ENSG00000116251	ENSG00000116251		"""L ribosomal proteins"""	10315	protein-coding gene	gene with protein product		180474				8395054	Standard	NM_000983		Approved	EAP, L22	uc001amd.3	P35268	OTTHUMG00000000953	ENST00000234875.4:c.44delA	1.37:g.6257785delT	ENSP00000346088:p.Lys16fs					RPL22_uc001ame.2_Frame_Shift_Del_p.K15fs	p.K15fs	NM_000983	NP_000974	P35268	RL22_HUMAN		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)	2	90	-	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)	15					B2R495|Q6IBD1	Frame_Shift_Del	DEL	ENST00000234875.4	37	c.44delA	CCDS58.1																																																																																				0.398	RPL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002830.1	NM_000983		10	83	NA	NA	NA	NA	10	83	---	---	---	---
PHF13	148479	broad.mit.edu	37	1	6680128	6680128	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:6680128delG	ENST00000377648.4	+	3	789	c.407delG	c.(406-408)aggfs	p.R136fs	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	136					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		GAGGGGTACAGGGGGGGCTTG	0.602																																						uc001aob.3		NA																	0					0						c.(406-408)AGGfs		PHD finger protein 13							37.0	41.0	40.0					1																	6680128		2203	4300	6503	SO:0001589	frameshift_variant	148479				cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding	g.chr1:6680128delG	AK027492	CCDS85.1	1p36.23	2013-01-28			ENSG00000116273	ENSG00000116273		"""Zinc fingers, PHD-type"""	22983	protein-coding gene	gene with protein product							Standard	NM_153812		Approved	MGC43399	uc001aob.4	Q86YI8	OTTHUMG00000001439	ENST00000377648.4:c.407delG	1.37:g.6680128delG	ENSP00000366876:p.Arg136fs						p.R136fs	NM_153812	NP_722519	Q86YI8	PHF13_HUMAN		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)	3	778	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	136					B3KUQ7|Q59FB6|Q5TH65|Q8N551|Q9UJP2	Frame_Shift_Del	DEL	ENST00000377648.4	37	c.407delG	CCDS85.1																																																																																				0.602	PHF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004201.1	NM_153812		10	111	NA	NA	NA	NA	10	111	---	---	---	---
C1orf141	400757	broad.mit.edu	37	1	67592911	67592911	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:67592911delT	ENST00000371007.2	-	3	122	c.13delA	c.(13-15)atcfs	p.I5fs	C1orf141_ENST00000371006.1_Frame_Shift_Del_p.I5fs|C1orf141_ENST00000544837.1_Frame_Shift_Del_p.I5fs	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	5										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						TTCTCTAGGATTTTTTCTGCC	0.313																																						uc001ddl.1		NA																	0				ovary(1)	1						c.(13-15)ATCfs		hypothetical protein LOC400757							136.0	134.0	135.0					1																	67592911		2203	4299	6502	SO:0001589	frameshift_variant	400757							g.chr1:67592911delT	BC090886	CCDS30745.1, CCDS72804.1	1p31.2	2012-07-23			ENSG00000203963	ENSG00000203963			32044	protein-coding gene	gene with protein product							Standard	NM_001276351		Approved		uc001ddm.2	Q5JVX7	OTTHUMG00000009406	ENST00000371007.2:c.13delA	1.37:g.67592911delT	ENSP00000360046:p.Ile5fs					C1orf141_uc001ddm.1_Frame_Shift_Del_p.I5fs|C1orf141_uc001ddn.1_RNA	p.I5fs	NM_001013674	NP_001013696	Q5JVX7	CA141_HUMAN			2	124	-			5					Q0P5P5|Q5JVX5	Frame_Shift_Del	DEL	ENST00000371007.2	37	c.13delA	CCDS30745.1																																																																																				0.313	C1orf141-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026096.2	NM_001013674		15	218	NA	NA	NA	NA	15	218	---	---	---	---
GNG12	55970	broad.mit.edu	37	1	68171151	68171151	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:68171151delT	ENST00000370982.3	-	4	401	c.202delA	c.(202-204)actfs	p.T68fs		NM_018841.5	NP_061329.3	Q9UBI6	GBG12_HUMAN	guanine nucleotide binding protein (G protein), gamma 12	68					cellular response to glucagon stimulus (GO:0071377)|cerebral cortex development (GO:0021987)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|phosphate ion binding (GO:0042301)|signal transducer activity (GO:0004871)			lung(3)	3						ATGATGCAAGTTTTTTTATCC	0.438																																						uc001dea.1		NA																	0					0						c.(202-204)ACTfs		G-protein gamma-12 subunit precursor							171.0	162.0	165.0					1																	68171151		2203	4300	6503	SO:0001589	frameshift_variant	55970				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity	g.chr1:68171151delT	AF119663	CCDS30749.1	1p31.2	2008-02-05			ENSG00000172380	ENSG00000172380			19663	protein-coding gene	gene with protein product		615405				10819326	Standard	NM_018841		Approved		uc001dea.2	Q9UBI6	OTTHUMG00000009545	ENST00000370982.3:c.202delA	1.37:g.68171151delT	ENSP00000360021:p.Thr68fs						p.T68fs	NM_018841	NP_061329	Q9UBI6	GBG12_HUMAN			4	394	-			68					Q69YP5|Q9BRV5	Frame_Shift_Del	DEL	ENST00000370982.3	37	c.202delA	CCDS30749.1																																																																																				0.438	GNG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026355.2			31	217	NA	NA	NA	NA	31	217	---	---	---	---
SYT6	148281	broad.mit.edu	37	1	114641761	114641761	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:114641761delT	ENST00000610222.1	-	5	1465	c.1319delA	c.(1318-1320)aacfs	p.N440fs	SYT6_ENST00000609117.1_Frame_Shift_Del_p.N355fs|SYT6_ENST00000607941.1_Frame_Shift_Del_p.N355fs|SYT6_ENST00000369547.1_Frame_Shift_Del_p.N355fs|SYT6_ENST00000393296.1_Frame_Shift_Del_p.N440fs			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	440	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGATCCATGTTTTCCGGGGG	0.488																																						uc001eev.2		NA																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(1063-1065)AACfs		synaptotagmin VI							266.0	209.0	228.0					1																	114641761		2203	4300	6503	SO:0001589	frameshift_variant	148281				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	g.chr1:114641761delT		CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"""Synaptotagmins"""	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.1319delA	1.37:g.114641761delT	ENSP00000476396:p.Asn440fs					SYT6_uc001eeu.2_5'UTR	p.N355fs	NM_205848	NP_995320	Q5T7P8	SYT6_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	1314	-	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)	440			Cytoplasmic (Potential).|C2 2.		B1AMB8|B3KPK1	Frame_Shift_Del	DEL	ENST00000610222.1	37	c.1064delA																																																																																					0.488	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000314819.2	NM_205848		28	309	NA	NA	NA	NA	28	309	---	---	---	---
ZBTB7B	51043	broad.mit.edu	37	1	154987396	154987397	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:154987396_154987397delGT	ENST00000368426.3	+	3	397_398	c.260_261delGT	c.(259-261)ggtfs	p.G87fs	ZBTB7B_ENST00000417934.2_Frame_Shift_Del_p.G121fs|ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000535420.1_Frame_Shift_Del_p.G87fs|ZBTB7B_ENST00000292176.2_Frame_Shift_Del_p.G87fs	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	87	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCAGGGGCCGGTGTGTGTGAGC	0.629																																						uc001fgk.3		NA																	0					0						c.(259-261)GGTfs		zinc finger and BTB domain containing 7B																																				SO:0001589	frameshift_variant	51043				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:154987396_154987397delGT	AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18668	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 15"""	607646	"""zinc finger protein 67 homolog (mouse)"""	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.260_261delGT	1.37:g.154987402_154987403delGT	ENSP00000357411:p.Gly87fs					ZBTB7B_uc009wpa.2_Frame_Shift_Del_p.G87fs|ZBTB7B_uc001fgj.3_Frame_Shift_Del_p.G121fs|ZBTB7B_uc010peq.1_Frame_Shift_Del_p.G121fs|ZBTB7B_uc001fgl.3_Frame_Shift_Del_p.G87fs	p.G87fs	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		3	418_419	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		87			BTB.		B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Frame_Shift_Del	DEL	ENST00000368426.3	37	c.260_261delGT	CCDS1081.1																																																																																				0.629	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091083.1	NM_015872		8	70	NA	NA	NA	NA	8	70	---	---	---	---
IQGAP3	128239	broad.mit.edu	37	1	156521543	156521543	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:156521543delG	ENST00000361170.2	-	15	1698	c.1688delC	c.(1687-1689)cctfs	p.P563fs		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	563					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATGGTACCGAGGGGCGACAGG	0.562																																						uc001fpf.2		NA																	0				ovary(5)|skin(1)	6						c.(1687-1689)CCTfs		IQ motif containing GTPase activating protein 3							69.0	60.0	63.0					1																	156521543		2203	4300	6503	SO:0001589	frameshift_variant	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156521543delG	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.1688delC	1.37:g.156521543delG	ENSP00000354451:p.Pro563fs					IQGAP3_uc009wsb.1_Frame_Shift_Del_p.P520fs	p.P563fs	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN			15	1763	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		563					Q5T3H8	Frame_Shift_Del	DEL	ENST00000361170.2	37	c.1688delC	CCDS1144.1																																																																																				0.562	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		10	86	NA	NA	NA	NA	10	86	---	---	---	---
NMNAT2	23057	broad.mit.edu	37	1	183255842	183255842	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:183255842delG	ENST00000287713.6	-	5	737	c.403delC	c.(403-405)cagfs	p.Q135fs	NMNAT2_ENST00000473046.1_5'UTR|NMNAT2_ENST00000294868.4_Frame_Shift_Del_p.Q130fs	NM_015039.3	NP_055854.1	Q9BZQ4	NMNA2_HUMAN	nicotinamide nucleotide adenylyltransferase 2	135					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|late endosome (GO:0005770)|synapse (GO:0045202)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						TAAATGGGCTGGGGGGTCTCG	0.542																																						uc001gqc.1		NA																	0				skin(1)	1						c.(403-405)CAGfs		nicotinamide mononucleotide adenylyltransferase							164.0	150.0	155.0					1																	183255842		2203	4300	6503	SO:0001589	frameshift_variant	23057				water-soluble vitamin metabolic process	Golgi membrane|nucleus	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity	g.chr1:183255842delG	AF288395	CCDS1353.1, CCDS1354.1	1q25	2008-02-05	2003-04-30	2003-05-02	ENSG00000157064	ENSG00000157064			16789	protein-coding gene	gene with protein product		608701	"""chromosome 1 open reading frame 15"""	C1orf15		11318611, 12359228	Standard	NM_015039		Approved	KIAA0479, PNAT2	uc001gqc.2	Q9BZQ4	OTTHUMG00000035519	ENST00000287713.6:c.403delC	1.37:g.183255842delG	ENSP00000287713:p.Gln135fs					NMNAT2_uc001gqb.1_Frame_Shift_Del_p.Q130fs|NMNAT2_uc001gqd.2_Frame_Shift_Del_p.Q30fs	p.Q135fs	NM_015039	NP_055854	Q9BZQ4	NMNA2_HUMAN			5	738	-			135					O75067|Q5T1Q3|Q8WU99|Q96QW1	Frame_Shift_Del	DEL	ENST00000287713.6	37	c.403delC	CCDS1353.1																																																																																				0.542	NMNAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086255.1			8	117	NA	NA	NA	NA	8	117	---	---	---	---
NCF2	4688	broad.mit.edu	37	1	183543721	183543723	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:183543721_183543723delCTT	ENST00000367535.3	-	4	651_653	c.400_402delAAG	c.(400-402)aagdel	p.K134del	NCF2_ENST00000418089.1_Intron|NCF2_ENST00000367536.1_In_Frame_Del_p.K134del|NCF2_ENST00000413720.1_Intron	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	134					aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	TCCATTCCTCCTTCTTGGCATAC	0.448																																						uc001gqj.3		NA																	0				ovary(3)	3	GRCh37	CI951959	NCF2	I		c.(400-402)AAGdel		neutrophil cytosolic factor 2																																				SO:0001651	inframe_deletion	4688				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding	g.chr1:183543721_183543723delCTT	BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"""Tetratricopeptide (TTC) repeat domain containing"""	7661	protein-coding gene	gene with protein product	"""NADPH oxidase activator 2"", ""chronic granulomatous disease, autosomal 2"""	608515	"""neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"""				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.400_402delAAG	1.37:g.183543724_183543726delCTT	ENSP00000356505:p.Lys134del					NCF2_uc010pod.1_Intron|NCF2_uc010poe.1_Intron|NCF2_uc001gqk.3_In_Frame_Del_p.K134del	p.K134del	NM_000433	NP_000424	P19878	NCF2_HUMAN			4	675_677	-			134			TPR 3.		B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	In_Frame_Del	DEL	ENST00000367535.3	37	c.400_402delAAG	CCDS1356.1																																																																																				0.448	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085483.1	NM_000433		14	192	NA	NA	NA	NA	14	192	---	---	---	---
ZNF124	7678	broad.mit.edu	37	1	247319909	247319909	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:247319909delT	ENST00000543802.2	-	4	1104	c.1015delA	c.(1015-1017)actfs	p.T339fs	ZNF124_ENST00000340684.6_Frame_Shift_Del_p.T277fs|ZNF124_ENST00000491356.1_Intron|ZNF124_ENST00000472531.1_Intron|ZNF124_ENST00000491848.1_5'Flank			Q15973	ZN124_HUMAN	zinc finger protein 124	339					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T277P(1)		biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			CCAGTATGAGTTTTTTTATGC	0.368																																						uc001ick.2		NA																	1	Substitution - Missense(1)		biliary_tract(1)	breast(1)	1						c.(1015-1017)ACTfs		zinc finger protein 124							78.0	80.0	80.0					1																	247319909		2203	4300	6503	SO:0001589	frameshift_variant	7678				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:247319909delT	S54641	CCDS31089.1, CCDS58067.1, CCDS73057.1	1q44	2013-01-08	2006-06-13		ENSG00000196418	ENSG00000196418		"""Zinc fingers, C2H2-type"", ""-"""	12907	protein-coding gene	gene with protein product		194631	"""zinc finger protein 124 (HZF-16)"""			7916577	Standard	XM_005273256		Approved	HZF16, HZF-16	uc001icj.1	Q15973	OTTHUMG00000041112	ENST00000543802.2:c.1015delA	1.37:g.247319909delT	ENSP00000440365:p.Thr339fs					ZNF124_uc001ici.2_Intron|ZNF124_uc001icj.1_Frame_Shift_Del_p.T277fs	p.T339fs	NM_003431	NP_003422	Q15973	ZN124_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00739)		4	1154	-	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		339			C2H2-type 8.		B3KNP3|J3KSE1|Q15974|Q4VAJ7|Q5T2V4	Frame_Shift_Del	DEL	ENST00000543802.2	37	c.1015delA																																																																																					0.368	ZNF124-009	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000447393.1	NM_003431		12	128	NA	NA	NA	NA	12	128	---	---	---	---
OR14C36	127066	broad.mit.edu	37	1	248512384	248512384	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:248512384delT	ENST00000317861.1	+	1	308	c.308delT	c.(307-309)gttfs	p.V103fs		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F105fs*28(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						TTCCTCGTGGTTTTTTTTGTA	0.478																																						uc010pzl.1		NA																	1	Deletion - Frameshift(1)		ovary(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(307-309)GTTfs		olfactory receptor, family 14, subfamily C,							68.0	60.0	63.0					1																	248512384		2203	4300	6503	SO:0001589	frameshift_variant	127066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248512384delT	BK004466	CCDS31112.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000177174	ENSG00000177174		"""GPCR / Class A : Olfactory receptors"""	15026	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BF, member 1"""	OR5BF1			Standard	NM_001001918		Approved		uc010pzl.2	Q8NHC7	OTTHUMG00000040463	ENST00000317861.1:c.308delT	1.37:g.248512384delT	ENSP00000324534:p.Val103fs						p.V103fs	NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN			1	308	+			103			Helical; Name=3; (Potential).		Q6IEZ6	Frame_Shift_Del	DEL	ENST00000317861.1	37	c.308delT	CCDS31112.1																																																																																				0.478	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097359.1	NM_001001918		8	98	NA	NA	NA	NA	8	98	---	---	---	---
GJD4	219770	broad.mit.edu	37	10	35897554	35897554	+	Stop_Codon_Del	DEL	A	A	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr10:35897554delA	ENST00000321660.1	+	0	1271				RP11-425A6.5_ENST00000609313.1_RNA	NM_153368.2	NP_699199.2	Q96KN9	CXD4_HUMAN	gap junction protein, delta 4, 40.1kDa						cell communication (GO:0007154)|regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014717)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						AGTGGGTGTGAAAAAAACAGC	0.632																																						uc001iyy.1		NA																	0				large_intestine(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(1111-1113)TGAfs		connexin40.1							4.0	5.0	5.0					10																	35897554		1989	3992	5981	SO:0001567	stop_retained_variant	219770				cell communication	connexon complex|integral to membrane		g.chr10:35897554delA	AJ414564	CCDS7191.1	10p11.22	2007-11-27			ENSG00000177291	ENSG00000177291		"""Ion channels / Gap junction proteins (connexins)"""	23296	protein-coding gene	gene with protein product	"""connexin 40.1"""	611922				12477932	Standard	NM_153368		Approved	CX40.1, FLJ90023	uc001iyy.1	Q96KN9	OTTHUMG00000017957	Exception_encountered	10.37:g.35897554delA							p.*371fs	NM_153368	NP_699199	Q96KN9	CXD4_HUMAN			2	1271	+			371					Q8N2R7	Frame_Shift_Del	DEL	ENST00000321660.1	37	c.1113delA	CCDS7191.1																																																																																				0.632	GJD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047576.1	NM_153368		3	5	NA	NA	NA	NA	3	5	---	---	---	---
HECTD2	143279	broad.mit.edu	37	10	93247481	93247481	+	Frame_Shift_Del	DEL	A	A	-	rs57105282		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr10:93247481delA	ENST00000298068.5	+	11	1231	c.1137delA	c.(1135-1137)gcafs	p.A379fs	HECTD2_ENST00000446394.1_Frame_Shift_Del_p.A383fs|HECTD2_ENST00000498446.1_3'UTR|HECTD2_ENST00000371667.1_Frame_Shift_Del_p.A29fs|HECTD2_ENST00000536715.1_Intron	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	379					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						CTGTAGCTGCAAAAAAAATCA	0.318																																					NSCLC(12;376 469 1699 39910 41417)	uc001khl.2		NA																	0				skin(1)	1						c.(1135-1137)GCAfs		HECT domain containing 2 isoform a							93.0	97.0	96.0					10																	93247481		2203	4297	6500	SO:0001589	frameshift_variant	143279				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr10:93247481delA	AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"""HECT domain containing 2"""			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.1137delA	10.37:g.93247481delA	ENSP00000298068:p.Ala379fs					LOC100188947_uc010qnl.1_Intron|HECTD2_uc010qnm.1_Frame_Shift_Del_p.A383fs|HECTD2_uc001khm.2_RNA|HECTD2_uc009xty.1_Intron|HECTD2_uc001khn.1_Frame_Shift_Del_p.A29fs	p.A379fs	NM_182765	NP_877497	Q5U5R9	HECD2_HUMAN			11	1237	+			379					Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Frame_Shift_Del	DEL	ENST00000298068.5	37	c.1137delA	CCDS7414.1																																																																																				0.318	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1			8	220	NA	NA	NA	NA	8	220	---	---	---	---
ZDHHC16	84287	broad.mit.edu	37	10	99215505	99215507	+	In_Frame_Del	DEL	AAG	AAG	-	rs146287872	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr10:99215505_99215507delAAG	ENST00000370854.3	+	9	1102_1104	c.913_915delAAG	c.(913-915)aagdel	p.K306del	ZDHHC16_ENST00000352634.4_In_Frame_Del_p.K290del|ZDHHC16_ENST00000495735.1_3'UTR|ZDHHC16_ENST00000345745.5_In_Frame_Del_p.K225del|ZDHHC16_ENST00000370842.2_In_Frame_Del_p.K290del|ZDHHC16_ENST00000393760.1_In_Frame_Del_p.K306del|ZDHHC16_ENST00000370846.4_In_Frame_Del_p.K236del|ZDHHC16_ENST00000353979.3_In_Frame_Del_p.K267del	NM_032327.2	NP_115703.2	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16	306					apoptotic process (GO:0006915)|protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		GCACATCAACAAGAAGGAGAGAC	0.532																																						uc001knj.2		NA																	0				ovary(1)	1						c.(913-915)AAGdel		Abl-philin 2 isoform 1			,,,,	1,4261		0,1,2130					,,,,	6.1	1.0			147	0,8254		0,0,4127	no	coding,coding,coding,coding,coding	ZDHHC16	NM_198046.1,NM_198045.1,NM_198044.1,NM_198043.1,NM_032327.2	,,,,	0,1,6257	A1A1,A1R,RR		0.0,0.0235,0.0080	,,,,	,,,,		1,12515				SO:0001651	inframe_deletion	84287				apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding	g.chr10:99215505_99215507delAAG	AF258563	CCDS7460.1, CCDS7461.1, CCDS7462.1, CCDS7463.1, CCDS73176.1	10q24.1	2008-05-02			ENSG00000171307	ENSG00000171307		"""Zinc fingers, DHHC-type"""	20714	protein-coding gene	gene with protein product						12021275	Standard	NM_198043		Approved	APH2	uc001knk.3	Q969W1	OTTHUMG00000018847	ENST00000370854.3:c.913_915delAAG	10.37:g.99215508_99215510delAAG	ENSP00000359891:p.Lys306del					ZDHHC16_uc001knp.2_In_Frame_Del_p.K236del|ZDHHC16_uc001knk.2_In_Frame_Del_p.K306del|ZDHHC16_uc001knl.2_In_Frame_Del_p.K290del|ZDHHC16_uc001knm.2_In_Frame_Del_p.K225del|ZDHHC16_uc001knn.2_In_Frame_Del_p.K267del|ZDHHC16_uc010qow.1_In_Frame_Del_p.K288del|ZDHHC16_uc009xvq.2_RNA|ZDHHC16_uc001kno.2_In_Frame_Del_p.K272del|ZDHHC16_uc009xvr.2_In_Frame_Del_p.K297del	p.K306del	NM_198046	NP_932163	Q969W1	ZDH16_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)	10	1262_1264	+		Colorectal(252;0.0846)	306			Cytoplasmic (Potential).		D3DR52|D3DR53|D3DR54|Q5JTG7|Q5JTH0|Q8N4Z6|Q8WY84|Q9BSV3	In_Frame_Del	DEL	ENST00000370854.3	37	c.913_915delAAG	CCDS7460.1																																																																																				0.532	ZDHHC16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049658.2	NM_032327		13	199	NA	NA	NA	NA	13	199	---	---	---	---
DPYSL4	10570	broad.mit.edu	37	10	134000594	134000594	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr10:134000594delC	ENST00000338492.4	+	1	191	c.27delC	c.(25-27)atcfs	p.I9fs	DPYSL4_ENST00000368629.1_5'UTR|DPYSL4_ENST00000493882.1_3'UTR|RP11-140A10.3_ENST00000443922.1_RNA|RP11-140A10.3_ENST00000414106.1_RNA	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	9					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		AGAAAAGCATCCCCCGGATCA	0.771																																						uc009ybb.2		NA																	0				central_nervous_system(2)	2						c.(25-27)ATCfs		dihydropyrimidinase-like 4							15.0	14.0	14.0					10																	134000594		2143	4244	6387	SO:0001589	frameshift_variant	10570				axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr10:134000594delC	AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.27delC	10.37:g.134000594delC	ENSP00000339850:p.Ile9fs						p.I9fs	NM_006426	NP_006417	O14531	DPYL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)	1	181	+		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	9					B2RMQ1|D3DRG5|O00240|Q5T0Q7	Frame_Shift_Del	DEL	ENST00000338492.4	37	c.27delC	CCDS7665.1																																																																																				0.771	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2			4	6	NA	NA	NA	NA	4	6	---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1269737	1269737	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:1269737delC	ENST00000529681.1	+	31	11685	c.11627delC	c.(11626-11628)accfs	p.T3876fs	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Frame_Shift_Del_p.T3879fs	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3876	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|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)		TTCACAGTCACCCCCTCCTCC	0.647																																						uc009ycr.1		NA																	0					0						c.(13210-13212)ACCfs		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							136.0	160.0	152.0					11																	1269737		2111	4220	6331	SO:0001589	frameshift_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1269737delC	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.11627delC	11.37:g.1269737delC	ENSP00000436812:p.Thr3876fs					MUC5B_uc001ltb.2_Frame_Shift_Del_p.T3879fs	p.T4404fs	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)	50	13337	+		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)	3876			7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Frame_Shift_Del	DEL	ENST00000529681.1	37	c.13211delC	CCDS44515.2																																																																																				0.647	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		12	135	NA	NA	NA	NA	12	135	---	---	---	---
PITPNM1	9600	broad.mit.edu	37	11	67269818	67269818	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:67269818delC	ENST00000534749.1	-	3	548	c.360delG	c.(358-360)gggfs	p.G120fs	PITPNM1_ENST00000436757.2_Frame_Shift_Del_p.G120fs|PITPNM1_ENST00000356404.3_Frame_Shift_Del_p.G120fs			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	120					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						TTGGCTGCTGCCCCCCATCAG	0.607																																					GBM(28;144 709 4607 5525)	uc001olx.2		NA																	0				lung(2)|central_nervous_system(1)	3						c.(358-360)GGGfs		phosphatidylinositol transfer protein,							75.0	74.0	75.0					11																	67269818		2200	4295	6495	SO:0001589	frameshift_variant	9600				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	g.chr11:67269818delC	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"""PYK2 N-terminal domain-interacting receptor 2"", ""retinal degeneration B alpha 1"""	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.360delG	11.37:g.67269818delC	ENSP00000437286:p.Gly120fs					PITPNM1_uc001oly.2_Frame_Shift_Del_p.G120fs|PITPNM1_uc001olz.2_Frame_Shift_Del_p.G120fs	p.G120fs	NM_004910	NP_004901	O00562	PITM1_HUMAN			3	549	-			120					A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Frame_Shift_Del	DEL	ENST00000534749.1	37	c.360delG	CCDS31620.1																																																																																				0.607	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	NM_004910		15	125	NA	NA	NA	NA	15	125	---	---	---	---
MOGAT2	80168	broad.mit.edu	37	11	75431143	75431143	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:75431143delG	ENST00000198801.5	+	2	268	c.198delG	c.(196-198)cagfs	p.Q66fs	MOGAT2_ENST00000526712.1_5'UTR	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	66					diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|intestinal absorption (GO:0050892)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|acetyltransferase activity (GO:0016407)			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					AGCCACGGCAGGGGGGCCGGC	0.562																																						uc010rru.1		NA																	0				ovary(2)	2						c.(196-198)CAGfs		monoacylglycerol O-acyltransferase 2							158.0	164.0	162.0					11																	75431143		2200	4293	6493	SO:0001589	frameshift_variant	80168				glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	g.chr11:75431143delG	AY157608	CCDS8240.1	11q13.5	2008-02-05			ENSG00000166391	ENSG00000166391			23248	protein-coding gene	gene with protein product		610270				14970677	Standard	NM_025098		Approved	MGAT2, DGAT2L5, FLJ22644	uc010rru.2	Q3SYC2	OTTHUMG00000165341	ENST00000198801.5:c.198delG	11.37:g.75431143delG	ENSP00000198801:p.Gln66fs					MOGAT2_uc001oww.1_Frame_Shift_Del_p.Q66fs|MOGAT2_uc010rrv.1_5'UTR	p.Q66fs	NM_025098	NP_079374	Q3SYC2	MOGT2_HUMAN			2	198	+	Ovarian(111;0.103)		66					A8K7I3|Q3SYC1|Q6ZQZ2|Q86UH6|Q9H630	Frame_Shift_Del	DEL	ENST00000198801.5	37	c.198delG	CCDS8240.1																																																																																				0.562	MOGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383520.1	NM_025098		29	448	NA	NA	NA	NA	29	448	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92533399	92533399	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:92533399delC	ENST00000298047.6	+	9	7237	c.7220delC	c.(7219-7221)gccfs	p.A2407fs	FAT3_ENST00000409404.2_Frame_Shift_Del_p.A2407fs|FAT3_ENST00000525166.1_Frame_Shift_Del_p.A2257fs			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2407	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGTGAATTAGCCCCCCGGGGC	0.443										TCGA Ovarian(4;0.039)																												uc001pdj.3		NA																	0				ovary(4)|pancreas(1)	5						c.(7219-7221)GCCfs		FAT tumor suppressor homolog 3							85.0	86.0	86.0					11																	92533399		1825	4078	5903	SO:0001589	frameshift_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92533399delC	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.7220delC	11.37:g.92533399delC	ENSP00000298047:p.Ala2407fs	TCGA Ovarian(4;0.039)					p.A2407fs	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			9	7237	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2407			Cadherin 22.|Extracellular (Potential).		B5MDB0|Q96AU6	Frame_Shift_Del	DEL	ENST00000298047.6	37	c.7220delC																																																																																					0.443	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		22	157	NA	NA	NA	NA	22	157	---	---	---	---
TRPC6	7225	broad.mit.edu	37	11	101362286	101362287	+	Splice_Site	INS	-	-	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:101362286_101362287insT	ENST00000344327.3	-	3	1552_1553		c.e3+1		TRPC6_ENST00000532133.1_Splice_Site|TRPC6_ENST00000348423.4_Intron|TRPC6_ENST00000360497.4_Splice_Site	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6						aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CCTGACCTTACTTTTTTTACTT	0.396																																					Colon(166;1315 1927 11094 12848 34731)	uc001pgk.3		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.e3+1		transient receptor potential cation channel,																																				SO:0001630	splice_region_variant	7225				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	g.chr11:101362286_101362287insT	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.1128+1->A	11.37:g.101362293_101362293dupT						TRPC6_uc009ywy.2_Intron|TRPC6_uc009ywz.1_Splice_Site_p.K376_splice	p.K376_splice	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	3	1553	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)						Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Splice_Site	INS	ENST00000344327.3	37	c.1128_splice	CCDS8311.1																																																																																				0.396	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621	Intron	10	281	NA	NA	NA	NA	10	281	---	---	---	---
EXPH5	23086	broad.mit.edu	37	11	108412381	108412381	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:108412381delT	ENST00000265843.4	-	2	388	c.278delA	c.(277-279)aatfs	p.N93fs	EXPH5_ENST00000428840.1_Frame_Shift_Del_p.N17fs|EXPH5_ENST00000525344.1_Frame_Shift_Del_p.N86fs	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	93					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTTCTTACCATTTTTTGCCAT	0.323																																						uc001pkk.2		NA																	0				skin(3)|ovary(2)	5						c.(277-279)AATfs		exophilin 5 isoform a							96.0	94.0	94.0					11																	108412381		2201	4297	6498	SO:0001589	frameshift_variant	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108412381delT		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.278delA	11.37:g.108412381delT	ENSP00000265843:p.Asn93fs					EXPH5_uc010rwa.1_Frame_Shift_Del_p.N17fs	p.N93fs	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	2	389	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	93					Q2KHM1|Q9Y4D6	Frame_Shift_Del	DEL	ENST00000265843.4	37	c.278delA	CCDS8341.1																																																																																				0.323	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		9	111	NA	NA	NA	NA	9	111	---	---	---	---
SORL1	6653	broad.mit.edu	37	11	121475905	121475905	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:121475905delA	ENST00000260197.7	+	34	4864	c.4735delA	c.(4735-4737)aaafs	p.K1580fs	SORL1_ENST00000525532.1_Frame_Shift_Del_p.K524fs|SORL1_ENST00000534286.1_Frame_Shift_Del_p.K490fs|SORL1_ENST00000527934.1_Frame_Shift_Del_p.K195fs|SORL1_ENST00000532694.1_Frame_Shift_Del_p.K426fs	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1580	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GATGAGGCCCAAAAAAATGCC	0.438																																						uc001pxx.2		NA																	0				ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15						c.(4735-4737)AAAfs		sortilin-related receptor containing LDLR class							150.0	149.0	149.0					11																	121475905		2203	4299	6502	SO:0001589	frameshift_variant	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121475905delA	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.4735delA	11.37:g.121475905delA	ENSP00000260197:p.Lys1580fs					SORL1_uc010rzp.1_Frame_Shift_Del_p.K425fs|SORL1_uc010rzq.1_Frame_Shift_Del_p.K194fs	p.K1579fs	NM_003105	NP_003096	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	34	4815	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	1579			Extracellular (Potential).|Fibronectin type-III 1.		B2RNX7|Q92856	Frame_Shift_Del	DEL	ENST00000260197.7	37	c.4735delA	CCDS8436.1																																																																																				0.438	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		26	210	NA	NA	NA	NA	26	210	---	---	---	---
FOXM1	2305	broad.mit.edu	37	12	2968088	2968088	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:2968088delG	ENST00000359843.3	-	9	2076	c.2008delC	c.(2008-2010)cttfs	p.L670fs	FOXM1_ENST00000342628.2_Frame_Shift_Del_p.L708fs|ITFG2_ENST00000545509.1_Intron|Y_RNA_ENST00000410561.1_RNA|AC005841.1_ENST00000382678.3_5'Flank|FOXM1_ENST00000361953.3_Frame_Shift_Del_p.L655fs	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	670					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			GGTGATTCAAGGGGGGGAGCA	0.577																																						uc001qlf.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(2008-2010)CTTfs		forkhead box M1 isoform 2							44.0	50.0	48.0					12																	2968088		2203	4300	6503	SO:0001589	frameshift_variant	2305				cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding	g.chr12:2968088delG	Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"""Forkhead boxes"""	3818	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 2"""	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.2008delC	12.37:g.2968088delG	ENSP00000352901:p.Leu670fs					uc001qld.2_Intron|FOXM1_uc001qle.2_Frame_Shift_Del_p.L708fs|FOXM1_uc001qlg.2_Frame_Shift_Del_p.L655fs|FOXM1_uc009zea.2_Frame_Shift_Del_p.L655fs|FOXM1_uc009zeb.2_Frame_Shift_Del_p.L654fs	p.L670fs	NM_021953	NP_068772	Q08050	FOXM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000622)		9	2273	-			670					O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Frame_Shift_Del	DEL	ENST00000359843.3	37	c.2008delC	CCDS8515.1																																																																																				0.577	FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398272.1	NM_021953		13	115	NA	NA	NA	NA	13	115	---	---	---	---
PIK3C2G	5288	broad.mit.edu	37	12	18435201	18435202	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:18435201_18435202insT	ENST00000266497.5	+	1	224_225	c.186_187insT	c.(187-189)tttfs	p.F63fs	PIK3C2G_ENST00000535651.1_Frame_Shift_Ins_p.F63fs|PIK3C2G_ENST00000433979.1_Frame_Shift_Ins_p.F63fs|RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000538779.1_Frame_Shift_Ins_p.F63fs			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	63					chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ATGAAAACACCTTTTTTGTGCC	0.406																																						uc001rdt.2		NA																	0				lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2)	21						c.(184-189)ACCTTTfs		phosphoinositide-3-kinase, class 2 gamma																																				SO:0001589	frameshift_variant	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18435201_18435202insT	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.192dupT	12.37:g.18435207_18435207dupT	ENSP00000266497:p.Phe63fs					PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Frame_Shift_Ins_p.T62fs|PIK3C2G_uc010sic.1_5'UTR	p.T62fs	NM_004570	NP_004561	O75747	P3C2G_HUMAN			2	302_303	+		Hepatocellular(102;0.194)	62_63					A1L3U0	Frame_Shift_Ins	INS	ENST00000266497.5	37	c.186_187insT	CCDS44839.1																																																																																				0.406	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		11	132	NA	NA	NA	NA	11	132	---	---	---	---
MED21	9412	broad.mit.edu	37	12	27181336	27181337	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:27181336_27181337delCA	ENST00000282892.3	+	4	407_408	c.377_378delCA	c.(376-378)gcafs	p.A126fs	MED21_ENST00000546323.1_Frame_Shift_Del_p.A126fs|MED21_ENST00000536503.1_3'UTR	NM_001271811.1|NM_004264.3	NP_001258740.1|NP_004255.2	Q13503	MED21_HUMAN	mediator complex subunit 21	126					blastocyst development (GO:0001824)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)	DNA-directed RNA polymerase activity (GO:0003899)|transcription coactivator activity (GO:0003713)					Colorectal(261;0.0847)					GCTGATATTGCACAGTCACAGC	0.45																																						uc001rhp.1		NA																	0					0						c.(376-378)GCAfs		mediator complex subunit 21																																				SO:0001589	frameshift_variant	9412				positive regulation of transcription from RNA polymerase II promoter	mediator complex	DNA-directed RNA polymerase activity|transcription coactivator activity	g.chr12:27181336_27181337delCA	U46837	CCDS8711.1	12p12	2007-07-30	2007-07-30	2007-07-30		ENSG00000152944			11473	protein-coding gene	gene with protein product		603800	"""SRB7 (suppressor of RNA polymerase B, yeast) homolog"", ""SRB7 suppressor of RNA polymerase B homolog (yeast)"""	SURB7		8598913	Standard	NM_004264		Approved	SRB7	uc001rhp.2	Q13503		ENST00000282892.3:c.377_378delCA	12.37:g.27181338_27181339delCA	ENSP00000282892:p.Ala126fs					MED21_uc009zjh.1_RNA	p.A126fs	NM_004264	NP_004255	Q13503	MED21_HUMAN			4	407_408	+	Colorectal(261;0.0847)		126					B2R4I3|Q6IB05|Q92811	Frame_Shift_Del	DEL	ENST00000282892.3	37	c.377_378delCA	CCDS8711.1																																																																																				0.450	MED21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403262.1	NM_004264		13	218	NA	NA	NA	NA	13	218	---	---	---	---
ZCRB1	85437	broad.mit.edu	37	12	42707703	42707703	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:42707703delT	ENST00000266529.3	-	6	602	c.419delA	c.(418-420)aagfs	p.K141fs	ZCRB1_ENST00000552673.1_Frame_Shift_Del_p.K100fs|PPHLN1_ENST00000549190.1_Intron	NM_033114.3	NP_149105.3	Q8TBF4	ZCRB1_HUMAN	zinc finger CCHC-type and RNA binding motif 1	141	Poly-Lys.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)	8	all_cancers(12;0.000348)|Breast(8;0.221)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0689)		AGGAGCTTTCTTTTTTTTCTT	0.343																																						uc001rmz.2		NA																	0				skin(1)	1						c.(418-420)AAGfs		zinc finger CCHC-type and RNA binding motif 1							64.0	64.0	64.0					12																	42707703		2203	4300	6503	SO:0001589	frameshift_variant	85437				mRNA processing	nucleoplasm|U12-type spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding	g.chr12:42707703delT	BC022543	CCDS8740.1	12q12	2013-02-12				ENSG00000139168		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	29620	protein-coding gene	gene with protein product	"""U11/U12 snRNP 31K"""	610750				15146077, 16959469	Standard	NM_033114		Approved	MADP-1, MADP1, RBM36, ZCCHC19, SNRNP31	uc001rmz.3	Q8TBF4	OTTHUMG00000169382	ENST00000266529.3:c.419delA	12.37:g.42707703delT	ENSP00000266529:p.Lys141fs					PPHLN1_uc001rmy.2_Intron	p.K140fs	NM_033114	NP_149105	Q8TBF4	ZCRB1_HUMAN		GBM - Glioblastoma multiforme(48;0.0689)	6	628	-	all_cancers(12;0.000348)|Breast(8;0.221)	Lung NSC(34;0.123)	140			Poly-Lys.		Q6PJX0|Q96TA6	Frame_Shift_Del	DEL	ENST00000266529.3	37	c.419delA	CCDS8740.1																																																																																				0.343	ZCRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403813.1	NM_033114		21	98	NA	NA	NA	NA	21	98	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49445525	49445526	+	Frame_Shift_Ins	INS	-	-	G	rs200088180		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:49445525_49445526insG	ENST00000301067.7	-	10	1939_1940	c.1940_1941insC	c.(1939-1941)ccafs	p.P647fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	647	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										ATACCTCAGGTGGGGGGGACAT	0.634																																						uc001rta.3		NA								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(1939-1941)CCAfs		myeloid/lymphoid or mixed-lineage leukemia 2																																				SO:0001589	frameshift_variant	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49445525_49445526insG	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.1941dupC	12.37:g.49445532_49445532dupG	ENSP00000301067:p.Pro647fs	HNSCC(34;0.089)					p.P647fs	NM_003482	NP_003473	O14686	MLL2_HUMAN			10	1940_1941	-			647			15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.|14.		O14687	Frame_Shift_Ins	INS	ENST00000301067.7	37	c.1940_1941insC	CCDS44873.1																																																																																				0.634	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			8	73	NA	NA	NA	NA	8	73	---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57572242	57572242	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:57572242delG	ENST00000243077.3	+	27	4928	c.4462delG	c.(4462-4464)gggfs	p.G1489fs		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1489					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)	GACGCTGTACGGGGGGGAGGT	0.587																																						uc001snd.2		NA																	0				ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(4462-4464)GGGfs		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						106.0	93.0	97.0					12																	57572242		2203	4300	6503	SO:0001589	frameshift_variant	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.chr12:57572242delG	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.4462delG	12.37:g.57572242delG	ENSP00000243077:p.Gly1489fs						p.G1488fs	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	27	4928	+			1488			Extracellular (Potential).|LDL-receptor class B 11.		Q2PP12|Q86SW0|Q8IVG8	Frame_Shift_Del	DEL	ENST00000243077.3	37	c.4462delG	CCDS8932.1																																																																																				0.587	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		18	149	NA	NA	NA	NA	18	149	---	---	---	---
PPM1H	57460	broad.mit.edu	37	12	63195772	63195772	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:63195772delC	ENST00000228705.6	-	3	880	c.580delG	c.(580-582)gagfs	p.E195fs		NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	195	PP2C-like.						phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		TCAGGCTCCTCCCCCAGGCAG	0.716																																						uc001srk.3		NA																	0				lung(3)|ovary(1)	4						c.(580-582)GAGfs		protein phosphatase 1H (PP2C domain containing)							42.0	50.0	47.0					12																	63195772		2053	4194	6247	SO:0001589	frameshift_variant	57460						phosphoprotein phosphatase activity	g.chr12:63195772delC	AB032983	CCDS44934.1	12q14.1	2012-04-17	2010-03-05	2004-03-26	ENSG00000111110	ENSG00000111110	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	18583	protein-coding gene	gene with protein product	"""neurite extension-related protein phosphatase related to PP2C"""		"""ras homolog gene family, member C like 1"", ""protein phosphatase 1H (PP2C domain containing)"""	ARHCL1			Standard	NM_020700		Approved	KIAA1157, FLJ13253, NERPP-2C	uc001srk.3	Q9ULR3	OTTHUMG00000169990	ENST00000228705.6:c.580delG	12.37:g.63195772delC	ENSP00000228705:p.Glu195fs						p.E194fs	NM_020700	NP_065751	Q9ULR3	PPM1H_HUMAN	GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)	3	729	-			194			PP2C-like.		B1Q2A9|B2RXG4|Q6PI86	Frame_Shift_Del	DEL	ENST00000228705.6	37	c.580delG	CCDS44934.1																																																																																				0.716	PPM1H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406760.2	NM_020700		9	136	NA	NA	NA	NA	9	136	---	---	---	---
TMTC3	160418	broad.mit.edu	37	12	88553917	88553917	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:88553917delT	ENST00000266712.6	+	5	755	c.535delT	c.(535-537)tttfs	p.F179fs		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	179					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						CTTGACAGTGTTTTTAGTGGC	0.318																																						uc001tau.2		NA																	0				skin(1)	1						c.(535-537)TTTfs		transmembrane and tetratricopeptide repeat							113.0	118.0	117.0					12																	88553917		2203	4300	6503	SO:0001589	frameshift_variant	160418					integral to membrane	binding	g.chr12:88553917delT		CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"""Tetratricopeptide (TTC) repeat domain containing"""	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.535delT	12.37:g.88553917delT	ENSP00000266712:p.Phe179fs					TMTC3_uc009zsm.2_RNA	p.F179fs	NM_181783	NP_861448	Q6ZXV5	TMTC3_HUMAN			5	755	+			179			Helical; (Potential).		Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Frame_Shift_Del	DEL	ENST00000266712.6	37	c.535delT	CCDS9032.1																																																																																				0.318	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1	NM_181783		21	272	NA	NA	NA	NA	21	272	---	---	---	---
GALNT4	8693	broad.mit.edu	37	12	89917031	89917031	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:89917031delA	ENST00000529983.2	-	1	1552	c.1296delT	c.(1294-1296)tttfs	p.F432fs	RP11-734K2.4_ENST00000605233.1_RNA|POC1B_ENST00000393179.4_Intron|POC1B-GALNT4_ENST00000547474.1_3'UTR|POC1B_ENST00000549504.1_Intron|GALNT4_ENST00000413530.1_Frame_Shift_Del_p.F260fs|POC1B_ENST00000313546.3_Intron|POC1B_ENST00000549035.1_Intron|POC1B-GALNT4_ENST00000548729.1_Frame_Shift_Del_p.F429fs|POC1B_ENST00000541909.1_Intron	NM_003774.4	NP_003765.2	Q8N4A0	GALT4_HUMAN	polypeptide N-acetylgalactosaminyltransferase 4	432					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						GTAAATTAGGAAAAACGTTTT	0.403																																						uc001tbd.2		NA																	0					0						c.(1294-1296)TTTfs		polypeptide N-acetylgalactosaminyltransferase 4							86.0	84.0	85.0					12																	89917031		1840	4099	5939	SO:0001589	frameshift_variant	8693				carbohydrate metabolic process	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:89917031delA	Y08564	CCDS53817.1	12q21.33	2014-03-13	2014-03-13		ENSG00000257594	ENSG00000257594	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4126	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 4"""	603565	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4)"""			9804815	Standard	NM_003774		Approved	GalNAc-T4	uc001tbd.3	Q8N4A0	OTTHUMG00000166292	ENST00000529983.2:c.1296delT	12.37:g.89917031delA	ENSP00000436604:p.Phe432fs					POC1B_uc001tba.2_Intron|POC1B_uc001tbb.2_Intron|POC1B_uc001tbc.2_Intron|POC1B_uc010sun.1_Intron|GALNT4_uc001tbe.2_Frame_Shift_Del_p.F429fs|GALNT4_uc010suo.1_Frame_Shift_Del_p.F124fs	p.F432fs	NM_003774	NP_003765	Q8N4A0	GALT4_HUMAN			1	1505	-			432			Lumenal (Potential).		B2R775|B4DMX6|O00208	Frame_Shift_Del	DEL	ENST00000529983.2	37	c.1296delT	CCDS53817.1																																																																																				0.403	GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388973.2	NM_003774		14	168	NA	NA	NA	NA	14	168	---	---	---	---
FAM71C	196472	broad.mit.edu	37	12	100042354	100042354	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:100042354delA	ENST00000324341.1	+	1	824	c.402delA	c.(400-402)gtafs	p.V134fs	ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547776.2_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	134										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		ACAACAGCGTAAAAAAACAGC	0.478																																						uc001tgn.2		NA																	0					0						c.(400-402)GTAfs		hypothetical protein LOC196472							76.0	76.0	76.0					12																	100042354		2203	4300	6503	SO:0001589	frameshift_variant	196472							g.chr12:100042354delA		CCDS9072.1	12q23.1	2006-02-03				ENSG00000180219			28594	protein-coding gene	gene with protein product						12477932	Standard	NM_153364		Approved	MGC39520	uc001tgn.3	Q8NEG0		ENST00000324341.1:c.402delA	12.37:g.100042354delA	ENSP00000315247:p.Val134fs					ANKS1B_uc001tge.1_Intron|ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Intron	p.V134fs	NM_153364	NP_699195	Q8NEG0	FA71C_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)	1	824	+			134					B2R6Y6	Frame_Shift_Del	DEL	ENST00000324341.1	37	c.402delA	CCDS9072.1																																																																																				0.478	FAM71C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408458.1	NM_153364		14	145	NA	NA	NA	NA	14	145	---	---	---	---
TBX5	6910	broad.mit.edu	37	12	114832546	114832547	+	Splice_Site	INS	-	-	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:114832546_114832547insT	ENST00000310346.4	-	6	1328_1329	c.662_663insA	c.(661-663)aag>aaAg	p.K221fs	TBX5_ENST00000552726.1_5'Flank|TBX5_ENST00000405440.2_Splice_Site_p.K221fs|TBX5_ENST00000526441.1_Splice_Site_p.K221fs|TBX5_ENST00000349716.5_Splice_Site_p.K171fs	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	221					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TCAGGCTTACCTTGTGGTTCTG	0.485																																					NSCLC(152;1358 1980 4050 23898 40356)	uc001tvo.2		NA																	0				ovary(6)|pancreas(1)|skin(1)	8						c.(661-663)AAGfs		T-box 5 isoform 1																																				SO:0001630	splice_region_variant	6910				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114832546_114832547insT	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.663+1->A	12.37:g.114832548_114832548dupT						TBX5_uc001tvp.2_Frame_Shift_Ins_p.K221fs|TBX5_uc001tvq.2_Frame_Shift_Ins_p.K171fs|TBX5_uc010syv.1_Frame_Shift_Ins_p.K221fs	p.K221fs	NM_181486	NP_852259	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	6	1157_1158	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		221			T-box.		A6ND77|O15301|Q96TB0|Q9Y4I2	Frame_Shift_Ins	INS	ENST00000310346.4	37	c.662_663insA	CCDS9173.1																																																																																				0.485	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717	Frame_Shift_Ins	8	211	NA	NA	NA	NA	8	211	---	---	---	---
VWA8	23078	broad.mit.edu	37	13	42461382	42461382	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr13:42461382delG	ENST00000379310.3	-	6	835	c.767delC	c.(766-768)cctfs	p.P256fs	VWA8_ENST00000281496.6_Frame_Shift_Del_p.P256fs	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	256						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										AGAACGAAGAGGGGGGTCTAA	0.383																																						uc001uyj.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6						c.(766-768)CCTfs		hypothetical protein LOC23078 isoform a							56.0	61.0	59.0					13																	42461382		2203	4300	6503	SO:0001589	frameshift_variant	23078					extracellular region	ATP binding|ATPase activity	g.chr13:42461382delG	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.767delC	13.37:g.42461382delG	ENSP00000368612:p.Pro256fs					KIAA0564_uc001uyk.2_Frame_Shift_Del_p.P256fs	p.P256fs	NM_015058	NP_055873	A3KMH1	K0564_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)	6	837	-		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)	256					O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Frame_Shift_Del	DEL	ENST00000379310.3	37	c.767delC	CCDS41881.1																																																																																				0.383	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		9	116	NA	NA	NA	NA	9	116	---	---	---	---
SLITRK6	84189	broad.mit.edu	37	13	86368721	86368722	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr13:86368721_86368722insT	ENST00000400286.2	-	2	2520_2521	c.1922_1923insA	c.(1921-1923)aagfs	p.K641fs		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	641					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CTACTTGTTTCTTTTTGTATCT	0.411																																						uc001vll.1		NA																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(1921-1923)AAGfs		slit and trk like 6 precursor																																				SO:0001589	frameshift_variant	84189					integral to membrane		g.chr13:86368721_86368722insT	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.1923dupA	13.37:g.86368726_86368726dupT	ENSP00000383143:p.Lys641fs					SLITRK6_uc010afe.1_Intron	p.K641fs	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)	2	2381_2382	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		641			Cytoplasmic (Potential).		A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Frame_Shift_Ins	INS	ENST00000400286.2	37	c.1922_1923insA	CCDS41903.1																																																																																				0.411	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		16	216	NA	NA	NA	NA	16	216	---	---	---	---
FANCM	57697	broad.mit.edu	37	14	45645955	45645955	+	Frame_Shift_Del	DEL	A	A	-	rs143681767		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:45645955delA	ENST00000267430.5	+	14	4083	c.3998delA	c.(3997-3999)caafs	p.Q1333fs	FANCM_ENST00000542564.2_Frame_Shift_Del_p.Q1307fs	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1333					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TTACCAGTGCAAAAAAAAGTT	0.328								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc001wwd.3		NA																	0				ovary(3)|lung(2)|breast(2)	7						c.(3997-3999)CAAfs	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group M							52.0	51.0	51.0					14																	45645955		2202	4297	6499	SO:0001589	frameshift_variant	57697	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45645955delA	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.3998delA	14.37:g.45645955delA	ENSP00000267430:p.Gln1333fs					FANCM_uc010anf.2_Frame_Shift_Del_p.Q1307fs|FANCM_uc001wwe.3_Frame_Shift_Del_p.Q869fs|FANCM_uc010ang.2_Frame_Shift_Del_p.Q547fs	p.Q1333fs	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN			14	4097	+			1333					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Frame_Shift_Del	DEL	ENST00000267430.5	37	c.3998delA	CCDS32070.1																																																																																				0.328	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		13	109	NA	NA	NA	NA	13	109	---	---	---	---
MAP4K5	11183	broad.mit.edu	37	14	50930795	50930796	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:50930795_50930796insT	ENST00000013125.4	-	12	1111_1112	c.793_794insA	c.(793-795)agafs	p.R265fs		NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	265	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.R265fs*8(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					AGCAGTTGGTCTTTTTTTTGGG	0.307																																						uc001wya.2		NA																	1	Deletion - Frameshift(1)	p.R265fs*8(1)	large_intestine(1)	large_intestine(1)	1						c.(793-795)AGAfs		mitogen-activated protein kinase kinase kinase																																				SO:0001589	frameshift_variant	11183				activation of JUN kinase activity	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:50930795_50930796insT	U77129		14q11.2-q21	2011-06-09				ENSG00000012983		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6867	protein-coding gene	gene with protein product	"""germinal center kinase-related"""	604923				9038372, 8274451	Standard	NM_198794		Approved	KHS1, GCKR, KHS	uc001wyb.3	Q9Y4K4		ENST00000013125.4:c.794dupA	14.37:g.50930803_50930803dupT	ENSP00000013125:p.Arg265fs					MAP4K5_uc001wyb.2_Frame_Shift_Ins_p.R265fs|MAP4K5_uc010anv.1_Frame_Shift_Ins_p.R265fs	p.R265fs	NM_006575	NP_006566	Q9Y4K4	M4K5_HUMAN			12	1113_1114	-	all_epithelial(31;0.000415)|Breast(41;0.0102)		265			Protein kinase.		Q8IYF6	Frame_Shift_Ins	INS	ENST00000013125.4	37	c.793_794insA																																																																																					0.307	MAP4K5-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000410880.1	NM_006575		3	5	NA	NA	NA	NA	3	5	---	---	---	---
NID2	22795	broad.mit.edu	37	14	52481919	52481919	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:52481919delG	ENST00000216286.5	-	15	3102	c.3103delC	c.(3103-3105)cggfs	p.R1035fs	NID2_ENST00000541773.1_Frame_Shift_Del_p.R934fs	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1035	Thyroglobulin type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00500}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TGGTCATCCCGGGGGGTGCCA	0.622																																						uc001wzo.2		NA																	0				pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7						c.(3103-3105)CGGfs		nidogen 2 precursor							50.0	47.0	48.0					14																	52481919		2203	4300	6503	SO:0001589	frameshift_variant	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52481919delG	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.3103delC	14.37:g.52481919delG	ENSP00000216286:p.Arg1035fs					NID2_uc010tqs.1_Frame_Shift_Del_p.R987fs|NID2_uc010tqt.1_Frame_Shift_Del_p.R1035fs|NID2_uc001wzp.2_Frame_Shift_Del_p.R1035fs	p.R1035fs	NM_007361	NP_031387	Q14112	NID2_HUMAN			15	3337	-	Breast(41;0.0639)|all_epithelial(31;0.123)		1035			Thyroglobulin type-1 2.		A8K6I7|B4DU19|O43710	Frame_Shift_Del	DEL	ENST00000216286.5	37	c.3103delC	CCDS9706.1																																																																																				0.622	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			8	162	NA	NA	NA	NA	8	162	---	---	---	---
EIF5	1983	broad.mit.edu	37	14	103805991	103805991	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:103805991delA	ENST00000216554.3	+	10	1598	c.922delA	c.(922-924)aaafs	p.K309fs	EIF5_ENST00000392715.2_Frame_Shift_Del_p.K309fs|SNORA28_ENST00000606769.1_RNA|EIF5_ENST00000558506.1_Frame_Shift_Del_p.K309fs	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	309	W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			TCACAACAACAAAAAAGCCCA	0.388																																						uc001ymq.2		NA																	0				pancreas(1)|breast(1)|skin(1)	3						c.(922-924)AAAfs		eukaryotic translation initiation factor 5							118.0	107.0	110.0					14																	103805991		2203	4300	6503	SO:0001589	frameshift_variant	1983				regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity	g.chr14:103805991delA	U49436	CCDS9980.1	14q32.32	2006-05-11				ENSG00000100664			3299	protein-coding gene	gene with protein product		601710				8663286	Standard	NM_001969		Approved		uc001ymq.4	P55010		ENST00000216554.3:c.922delA	14.37:g.103805991delA	ENSP00000216554:p.Lys309fs					EIF5_uc001ymr.2_Frame_Shift_Del_p.K308fs|EIF5_uc001yms.2_Frame_Shift_Del_p.K308fs|EIF5_uc001ymt.2_Frame_Shift_Del_p.K308fs|EIF5_uc001ymu.2_Frame_Shift_Del_p.K308fs	p.K308fs	NM_001969	NP_001960	P55010	IF5_HUMAN	Epithelial(46;0.182)		10	1444	+		Melanoma(154;0.155)	308			W2.		Q53XB3|Q9H5N2|Q9UG48	Frame_Shift_Del	DEL	ENST00000216554.3	37	c.922delA	CCDS9980.1																																																																																				0.388	EIF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415329.2	NM_001969		16	171	NA	NA	NA	NA	16	171	---	---	---	---
C15orf39	56905	broad.mit.edu	37	15	75499804	75499804	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:75499804delC	ENST00000360639.2	+	2	1735	c.1415delC	c.(1414-1416)accfs	p.T472fs	C15orf39_ENST00000567617.1_Frame_Shift_Del_p.T472fs|C15orf39_ENST00000394987.4_Frame_Shift_Del_p.T472fs			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	472						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						GTTCCCTGTACCCCCCCAGCA	0.632																																						uc002azp.3		NA																	0					0						c.(1414-1416)ACCfs		hypothetical protein LOC56905							43.0	49.0	47.0					15																	75499804		2197	4295	6492	SO:0001589	frameshift_variant	56905							g.chr15:75499804delC	AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 38~Name Same As HGNC:28782"""				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.1415delC	15.37:g.75499804delC	ENSP00000353854:p.Thr472fs					C15orf39_uc002azq.3_Frame_Shift_Del_p.T472fs|C15orf39_uc002azr.3_5'Flank	p.T472fs	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN			2	1735	+			472					B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Frame_Shift_Del	DEL	ENST00000360639.2	37	c.1415delC	CCDS10276.1																																																																																				0.632	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	NM_015492		12	129	NA	NA	NA	NA	12	129	---	---	---	---
TM6SF1	53346	broad.mit.edu	37	15	83805312	83805312	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:83805312delT	ENST00000322019.9	+	10	1275	c.1001delT	c.(1000-1002)cttfs	p.L334fs	TM6SF1_ENST00000379386.4_Frame_Shift_Del_p.L337fs|TM6SF1_ENST00000379390.6_3'UTR|TM6SF1_ENST00000565774.1_Frame_Shift_Del_p.L303fs			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	334						integral component of membrane (GO:0016021)				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						GCAAAAATCCTTTTTTTAGCA	0.368																																						uc002bjp.2		NA																	0				ovary(1)	1						c.(1000-1002)CTTfs		transmembrane 6 superfamily member 1 isoform 1							115.0	114.0	114.0					15																	83805312		2203	4300	6503	SO:0001589	frameshift_variant	53346					integral to membrane		g.chr15:83805312delT	AF255922	CCDS10323.1, CCDS45338.1	15q24-q26	2003-04-04			ENSG00000136404	ENSG00000136404			11860	protein-coding gene	gene with protein product		606562				11124529	Standard	NM_001144903		Approved		uc002bjp.3	Q9BZW5	OTTHUMG00000147365	ENST00000322019.9:c.1001delT	15.37:g.83805312delT	ENSP00000317000:p.Leu334fs					TM6SF1_uc010bmq.2_Frame_Shift_Del_p.L303fs|TM6SF1_uc002bjq.2_3'UTR|TM6SF1_uc010bmr.2_RNA|TM6SF1_uc002bjr.2_Frame_Shift_Del_p.L186fs	p.L334fs	NM_023003	NP_075379	Q9BZW5	TM6S1_HUMAN			10	1110	+			334			Helical; (Potential).		A8K7T5|H3BU56|Q4U0U5	Frame_Shift_Del	DEL	ENST00000322019.9	37	c.1001delT	CCDS10323.1																																																																																				0.368	TM6SF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000304009.1	NM_023003		13	231	NA	NA	NA	NA	13	231	---	---	---	---
PPL	5493	broad.mit.edu	37	16	4944500	4944500	+	Frame_Shift_Del	DEL	G	G	-	rs147027769		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:4944500delG	ENST00000345988.2	-	12	1451	c.1362delC	c.(1360-1362)cccfs	p.P454fs	PPL_ENST00000590782.2_Frame_Shift_Del_p.P452fs	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	454					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.T455fs*4(1)		breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CAGGGTCTGTGGGGGGGATCA	0.612																																						uc002cyd.1		NA																	1	Insertion - Frameshift(1)		large_intestine(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1360-1362)CCCfs		periplakin							86.0	73.0	77.0					16																	4944500		2197	4300	6497	SO:0001589	frameshift_variant	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4944500delG	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.1362delC	16.37:g.4944500delG	ENSP00000340510:p.Pro454fs						p.P454fs	NM_002705	NP_002696	O60437	PEPL_HUMAN			12	1452	-			454			Spectrin 2.		O60314|O60454|Q14C98	Frame_Shift_Del	DEL	ENST00000345988.2	37	c.1362delC	CCDS10526.1																																																																																				0.612	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		7	131	NA	NA	NA	NA	7	131	---	---	---	---
PARN	5073	broad.mit.edu	37	16	14540819	14540819	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:14540819delC	ENST00000437198.2	-	23	1931	c.1790delG	c.(1789-1791)tgtfs	p.C597fs	PARN_ENST00000420015.2_Frame_Shift_Del_p.C551fs|PARN_ENST00000341484.7_Frame_Shift_Del_p.C536fs|PARN_ENST00000539279.1_Frame_Shift_Del_p.C422fs	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease	597					female gamete generation (GO:0007292)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA metabolic process (GO:0016070)|RNA modification (GO:0009451)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|nuclease activity (GO:0004518)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(A)-specific ribonuclease activity (GO:0004535)|protein kinase binding (GO:0019901)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						GGGCTCTGCACAGGAATCGGT	0.488																																						uc010uzd.1		NA																	0				ovary(2)	2						c.(1789-1791)TGTfs		poly(A)-specific ribonuclease (deadenylation							123.0	119.0	120.0					16																	14540819		1881	4106	5987	SO:0001589	frameshift_variant	5073				female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification	cytosol|nucleolus	metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding	g.chr16:14540819delC	AJ005698	CCDS45419.1, CCDS45420.1, CCDS58425.1	16p13	2014-08-08	2011-07-07		ENSG00000140694	ENSG00000140694	3.1.13.4		8609	protein-coding gene	gene with protein product	"""deadenylation nuclease"""	604212	"""poly(A)-specific ribonuclease (deadenylation nuclease)"""			10640832	Standard	NM_002582		Approved	DAN	uc010uzd.2	O95453	OTTHUMG00000173199	ENST00000437198.2:c.1790delG	16.37:g.14540819delC	ENSP00000387911:p.Cys597fs					PARN_uc010uzc.1_Frame_Shift_Del_p.C536fs|PARN_uc010uze.1_Frame_Shift_Del_p.C551fs|PARN_uc010uzf.1_Frame_Shift_Del_p.C422fs	p.C597fs	NM_002582	NP_002573	O95453	PARN_HUMAN			23	1932	-			597					B2RCB3|B4DDG8|B4DWR4|B4E1H6	Frame_Shift_Del	DEL	ENST00000437198.2	37	c.1790delG	CCDS45419.1																																																																																				0.488	PARN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422383.1	NM_002582		12	170	NA	NA	NA	NA	12	170	---	---	---	---
IRX5	10265	broad.mit.edu	37	16	54966679	54966680	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:54966679_54966680delAG	ENST00000394636.4	+	2	856_857	c.519_520delAG	c.(517-522)aaagagfs	p.E174fs	CTD-3032H12.2_ENST00000560487.1_lincRNA|IRX5_ENST00000558597.1_Frame_Shift_Del_p.E108fs|IRX5_ENST00000560154.1_Intron|IRX5_ENST00000320990.5_Frame_Shift_Del_p.E174fs			P78411	IRX5_HUMAN	iroquois homeobox 5	174					embryonic cranial skeleton morphogenesis (GO:0048701)|gonad development (GO:0008406)|neuron maturation (GO:0042551)|regulation of heart rate (GO:0002027)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|vitamin D binding (GO:0005499)			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						GCCTCAAGAAAGAGAATAAAAT	0.599																																						uc002ehv.2		NA																	0					0						c.(517-522)AAAGAGfs		iroquois homeobox protein 5																																				SO:0001589	frameshift_variant	10265				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding	g.chr16:54966679_54966680delAG	U90309	CCDS10751.1, CCDS58462.1	16q12.2	2011-06-20	2007-07-13		ENSG00000176842	ENSG00000176842		"""Homeoboxes / TALE class"""	14361	protein-coding gene	gene with protein product		606195					Standard	NM_005853		Approved	IRX-2a	uc002ehv.3	P78411	OTTHUMG00000133201	ENST00000394636.4:c.519_520delAG	16.37:g.54966681_54966682delAG	ENSP00000378132:p.Glu174fs					IRX5_uc010cca.1_Frame_Shift_Del_p.K225fs|IRX5_uc002ehw.2_Frame_Shift_Del_p.K107fs	p.K173fs	NM_005853	NP_005844	P78411	IRX5_HUMAN			2	519_520	+			173_174			Homeobox; TALE-type.		H0YMS7|P78416|Q7Z2E1	Frame_Shift_Del	DEL	ENST00000394636.4	37	c.519_520delAG	CCDS10751.1																																																																																				0.599	IRX5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256911.2			13	196	NA	NA	NA	NA	13	196	---	---	---	---
BCAR1	9564	broad.mit.edu	37	16	75268875	75268875	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:75268875delG	ENST00000162330.5	-	5	2048	c.1922delC	c.(1921-1923)cctfs	p.P641fs	BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000420641.3_Frame_Shift_Del_p.P659fs|BCAR1_ENST00000542031.2_Frame_Shift_Del_p.P639fs|BCAR1_ENST00000393422.2_Frame_Shift_Del_p.P659fs|BCAR1_ENST00000546196.1_Frame_Shift_Del_p.P612fs|BCAR1_ENST00000535626.2_Frame_Shift_Del_p.P493fs|BCAR1_ENST00000393420.6_Frame_Shift_Del_p.P659fs|BCAR1_ENST00000538440.2_Frame_Shift_Del_p.P641fs|BCAR1_ENST00000418647.3_Frame_Shift_Del_p.P687fs	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	641					actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GGTGAACTTAGGGGGTGAGGG	0.657																																						uc002fdv.2		NA																	0				central_nervous_system(5)|breast(2)|prostate(1)	8						c.(1921-1923)CCTfs		breast cancer anti-estrogen resistance 1							64.0	65.0	65.0					16																	75268875		2198	4300	6498	SO:0001589	frameshift_variant	9564				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity	g.chr16:75268875delG	AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"""Cas scaffolding proteins"""	971	protein-coding gene	gene with protein product	"""Crk-associated substrate"", ""Cas scaffolding protein family member 1"""	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.1922delC	16.37:g.75268875delG	ENSP00000162330:p.Pro641fs					BCAR1_uc002fdt.2_Frame_Shift_Del_p.P94fs|BCAR1_uc002fdu.2_Frame_Shift_Del_p.P431fs|BCAR1_uc010cgu.2_Frame_Shift_Del_p.P630fs|BCAR1_uc010vna.1_Frame_Shift_Del_p.P639fs|BCAR1_uc010vnb.1_Frame_Shift_Del_p.P687fs|BCAR1_uc002fdw.2_Frame_Shift_Del_p.P641fs|BCAR1_uc010vnc.1_Frame_Shift_Del_p.P493fs|BCAR1_uc010vnd.1_Frame_Shift_Del_p.P659fs|BCAR1_uc002fdx.2_Frame_Shift_Del_p.P659fs	p.P641fs	NM_014567	NP_055382	P56945	BCAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	5	2045	-			641			SH3-binding (Potential).		B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Frame_Shift_Del	DEL	ENST00000162330.5	37	c.1922delC	CCDS10915.1																																																																																				0.657	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	NM_014567		10	153	NA	NA	NA	NA	10	153	---	---	---	---
SSH2	85464	broad.mit.edu	37	17	27963208	27963208	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:27963208delA	ENST00000269033.3	-	14	2110	c.1959delT	c.(1957-1959)tttfs	p.F653fs	SSH2_ENST00000540801.1_Frame_Shift_Del_p.F680fs|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	653					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTAGGGCACTAAAAAAGTCAA	0.502																																						uc002heo.1		NA																	0				skin(2)	2						c.(1957-1959)TTTfs		slingshot 2							76.0	78.0	77.0					17																	27963208		2203	4300	6503	SO:0001589	frameshift_variant	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27963208delA	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.1959delT	17.37:g.27963208delA	ENSP00000269033:p.Phe653fs					SSH2_uc010wbh.1_Frame_Shift_Del_p.F680fs	p.F653fs	NM_033389	NP_203747	Q76I76	SSH2_HUMAN			14	1959	-			653					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Frame_Shift_Del	DEL	ENST00000269033.3	37	c.1959delT	CCDS11253.1																																																																																				0.502	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		22	201	NA	NA	NA	NA	22	201	---	---	---	---
WNK4	65266	broad.mit.edu	37	17	40939870	40939870	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:40939870delG	ENST00000246914.5	+	8	1837	c.1816delG	c.(1816-1818)gggfs	p.G607fs	WNK4_ENST00000587705.1_Intron	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	607					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TCAGCCCCCTGGGGGGGTGCC	0.637																																					Esophageal Squamous(6;201 374 4964 23855 42828)	uc002ibj.2		NA																	0				ovary(3)|skin(3)|stomach(1)	7						c.(1816-1818)GGGfs		WNK lysine deficient protein kinase 4							36.0	39.0	38.0					17																	40939870		2156	4214	6370	SO:0001589	frameshift_variant	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40939870delG	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.1816delG	17.37:g.40939870delG	ENSP00000246914:p.Gly607fs					WNK4_uc010wgx.1_Frame_Shift_Del_p.G270fs|WNK4_uc002ibk.1_Frame_Shift_Del_p.G378fs|WNK4_uc010wgy.1_Intron	p.G606fs	NM_032387	NP_115763	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	8	1837	+		Breast(137;0.000143)	606					B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Frame_Shift_Del	DEL	ENST00000246914.5	37	c.1816delG	CCDS11439.1																																																																																				0.637	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			11	136	NA	NA	NA	NA	11	136	---	---	---	---
XYLT2	64132	broad.mit.edu	37	17	48433967	48433967	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:48433967delC	ENST00000017003.2	+	8	1627	c.1578delC	c.(1576-1578)tacfs	p.Y526fs	XYLT2_ENST00000507602.1_Frame_Shift_Del_p.Y526fs	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	526					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)	p.G529fs*17(1)		endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					ATGGCAGCTACCCCCCCGGCA	0.602																																						uc002iqo.2		NA																	1	Insertion - Frameshift(1)		large_intestine(1)	pancreas(1)	1						c.(1576-1578)TACfs		xylosyltransferase II							65.0	65.0	65.0					17																	48433967		2203	4300	6503	SO:0001589	frameshift_variant	64132				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr17:48433967delC	AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"""protein xylosyltransferase 2"""	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.1578delC	17.37:g.48433967delC	ENSP00000017003:p.Tyr526fs					XYLT2_uc010dbo.2_RNA	p.Y526fs	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN			8	1687	+	Breast(11;7.18e-19)		526			Lumenal (Potential).		Q6UY41|Q86V00	Frame_Shift_Del	DEL	ENST00000017003.2	37	c.1578delC	CCDS11563.1																																																																																				0.602	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367046.1	NM_022167		7	145	NA	NA	NA	NA	7	145	---	---	---	---
ABCA6	23460	broad.mit.edu	37	17	67079125	67079125	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:67079125delT	ENST00000284425.2	-	36	4679	c.4505delA	c.(4504-4506)aacfs	p.N1502fs	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1502	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GCCAAGTTTGTTTTTCAGGTG	0.373																																						uc002jhw.1		NA																	0				upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7						c.(4504-4506)AACfs		ATP-binding cassette, sub-family A, member 6							189.0	194.0	192.0					17																	67079125		2203	4300	6503	SO:0001589	frameshift_variant	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67079125delT	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.4505delA	17.37:g.67079125delT	ENSP00000284425:p.Asn1502fs						p.N1502fs	NM_080284	NP_525023	Q8N139	ABCA6_HUMAN			36	4680	-	Breast(10;5.65e-12)		1502			ABC transporter 2.		Q6NSH9|Q8N856|Q8WWZ6	Frame_Shift_Del	DEL	ENST00000284425.2	37	c.4505delA	CCDS11683.1																																																																																				0.373	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		22	447	NA	NA	NA	NA	22	447	---	---	---	---
ZNF750	79755	broad.mit.edu	37	17	80790043	80790044	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:80790043_80790044delAG	ENST00000269394.3	-	2	1120_1121	c.287_288delCT	c.(286-288)tctfs	p.S96fs	TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	96					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGTCGAAGGCAGAGAGTCCATT	0.574																																						uc002kga.2		NA																	0				central_nervous_system(1)	1						c.(286-288)TCTfs		zinc finger protein 750																																				SO:0001589	frameshift_variant	79755					intracellular	zinc ion binding	g.chr17:80790043_80790044delAG	AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.287_288delCT	17.37:g.80790047_80790048delAG	ENSP00000269394:p.Ser96fs					TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	p.S96fs	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)		2	598_599	-	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	96					Q9H899	Frame_Shift_Del	DEL	ENST00000269394.3	37	c.287_288delCT	CCDS11819.1																																																																																				0.574	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	NM_024702		10	148	NA	NA	NA	NA	10	148	---	---	---	---
OSBPL1A	114876	broad.mit.edu	37	18	21745097	21745097	+	Frame_Shift_Del	DEL	T	T	-	rs370244500		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr18:21745097delT	ENST00000319481.3	-	27	2888	c.2682delA	c.(2680-2682)aaafs	p.K894fs	OSBPL1A_ENST00000357041.4_Frame_Shift_Del_p.K512fs|OSBPL1A_ENST00000399443.3_Frame_Shift_Del_p.K381fs|RP11-799B12.4_ENST00000583267.1_lincRNA	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	894					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CCTCAAGTCGTTTTTTTTCTT	0.458																																						uc002kve.2		NA																	0				ovary(4)	4						c.(2680-2682)AAAfs		oxysterol-binding protein-like 1A isoform B							203.0	185.0	191.0					18																	21745097		2203	4300	6503	SO:0001589	frameshift_variant	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21745097delT	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.2682delA	18.37:g.21745097delT	ENSP00000320291:p.Lys894fs					OSBPL1A_uc002kvd.2_Frame_Shift_Del_p.K381fs|OSBPL1A_uc010xbc.1_Frame_Shift_Del_p.K512fs	p.K894fs	NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN			27	2856	-	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)		894			Potential.		B7Z7D3|Q9BZF5|Q9NW87	Frame_Shift_Del	DEL	ENST00000319481.3	37	c.2682delA	CCDS11884.1																																																																																				0.458	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		13	347	NA	NA	NA	NA	13	347	---	---	---	---
MIER2	54531	broad.mit.edu	37	19	308884	308886	+	In_Frame_Del	DEL	GTA	GTA	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:308884_308886delGTA	ENST00000264819.4	-	11	1034_1036	c.1024_1026delTAC	c.(1024-1026)tacdel	p.Y342del	CTD-3113P16.5_ENST00000591533.1_RNA	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	342	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTTCCACAGGTAGTAGTACTCG	0.67																																						uc002lok.1		NA																	0					0						c.(1024-1026)TACdel		mesoderm induction early response 1, family																																				SO:0001651	inframe_deletion	54531				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr19:308884_308886delGTA	AB033019	CCDS32855.1	19p13.3	2008-02-05	2006-04-20	2006-04-20		ENSG00000105556			29210	protein-coding gene	gene with protein product			"""KIAA1193"""	KIAA1193		10574462	Standard	NM_017550		Approved		uc002lok.1	Q8N344		ENST00000264819.4:c.1024_1026delTAC	19.37:g.308890_308892delGTA	ENSP00000264819:p.Tyr342del						p.Y342del	NM_017550	NP_060020	Q8N344	MIER2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	11	1033_1035	-		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)	342			SANT.		Q9ULM7	In_Frame_Del	DEL	ENST00000264819.4	37	c.1024_1026delTAC	CCDS32855.1																																																																																				0.670	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451784.1	XM_041843		11	168	NA	NA	NA	NA	11	168	---	---	---	---
TMPRSS9	360200	broad.mit.edu	37	19	2422029	2422030	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:2422029_2422030insT	ENST00000332578.3	+	13	2230_2231	c.2230_2231insT	c.(2230-2232)cccfs	p.P744fs		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	744					plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCCATGTCTCCCCCCTCGACC	0.663																																						uc010xgx.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2230-2232)CCCfs		transmembrane protease, serine 9																																				SO:0001589	frameshift_variant	360200				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr19:2422029_2422030insT	AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		Exception_encountered	19.37:g.2422029_2422030insT	ENSP00000330264:p.Pro744fs						p.P744fs	NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	13	2230_2231	+			744			Extracellular (Potential).		Q6ZND6|Q7Z411	Frame_Shift_Ins	INS	ENST00000332578.3	37	c.2230_2231insT	CCDS12088.1																																																																																				0.663	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973		10	162	NA	NA	NA	NA	10	162	---	---	---	---
GIPC3	126326	broad.mit.edu	37	19	3586543	3586543	+	Frame_Shift_Del	DEL	G	G	-	rs8113232	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:3586543delG	ENST00000322315.5	+	2	321	c.276delG	c.(274-276)ctgfs	p.L92fs		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	92										breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAAGCTCCTGGGGGGTCAGA	0.577											OREG0025154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002lyd.3		NA																	0				breast(1)	1						c.(274-276)CTGfs		GIPC PDZ domain containing family, member 3							76.0	77.0	76.0					19																	3586543		2203	4300	6503	SO:0001589	frameshift_variant	126326							g.chr19:3586543delG	AB073738	CCDS32871.1	19p13.3	2011-11-29				ENSG00000179855			18183	protein-coding gene	gene with protein product		608792	"""chromosome 19 open reading frame 64"", ""deafness, autosomal recessive 72"", ""deafness, autosomal recessive 15"""	C19orf64, DFNB72, DFNB15		11836571, 21326233	Standard	NM_133261		Approved	DFNB95	uc002lyd.4	Q8TF64		ENST00000322315.5:c.276delG	19.37:g.3586543delG	ENSP00000319254:p.Leu92fs		OREG0025154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	612		p.L92fs	NM_133261	NP_573568	Q8TF64	GIPC3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)	2	303	+			92					O75227	Frame_Shift_Del	DEL	ENST00000322315.5	37	c.276delG	CCDS32871.1																																																																																				0.577	GIPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394577.1	NM_133261		16	174	NA	NA	NA	NA	16	174	---	---	---	---
DEDD2	162989	broad.mit.edu	37	19	42713983	42713983	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:42713983delG	ENST00000595337.1	-	4	545	c.458delC	c.(457-459)ccafs	p.P153fs	DEDD2_ENST00000598727.1_Frame_Shift_Del_p.P153fs|DEDD2_ENST00000596251.1_Frame_Shift_Del_p.P153fs|DEDD2_ENST00000593804.1_5'UTR|DEDD2_ENST00000336034.4_Frame_Shift_Del_p.P148fs	NM_001270614.1	NP_001257543.1	Q8WXF8	DEDD2_HUMAN	death effector domain containing 2	153					apoptotic nuclear changes (GO:0030262)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|RNA processing (GO:0006396)|rRNA catabolic process (GO:0016075)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)	DNA binding (GO:0003677)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5		Prostate(69;0.0704)				CCGCTTGGTTGGGGGGGAGCC	0.662																																						uc002osu.1		NA																	0					0						c.(457-459)CCAfs		death effector domain-containing  DNA binding							14.0	18.0	16.0					19																	42713983		1958	3937	5895	SO:0001589	frameshift_variant	162989				activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|RNA processing|rRNA catabolic process|transcription, DNA-dependent	nucleolus	DNA binding|receptor signaling complex scaffold activity	g.chr19:42713983delG	AY125488	CCDS12597.1, CCDS59391.1	19q13.31	2008-02-05				ENSG00000160570			24450	protein-coding gene	gene with protein product						11965497, 12235123	Standard	NM_133328		Approved	FLAME-3	uc031rkv.1	Q8WXF8		ENST00000595337.1:c.458delC	19.37:g.42713983delG	ENSP00000470082:p.Pro153fs					DEDD2_uc002osv.1_RNA|DEDD2_uc002osw.1_Frame_Shift_Del_p.P148fs|DEDD2_uc002osx.1_Frame_Shift_Del_p.Q37fs|DEDD2_uc002osy.1_Frame_Shift_Del_p.P153fs|DEDD2_uc010eid.2_RNA	p.P153fs	NM_133328	NP_579874	Q8WXF8	DEDD2_HUMAN			4	526	-		Prostate(69;0.0704)	153					Q8NBR2|Q8NES1|Q8TAA8|Q96D35	Frame_Shift_Del	DEL	ENST00000595337.1	37	c.458delC	CCDS12597.1																																																																																				0.662	DEDD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463508.1	NM_133328		15	67	NA	NA	NA	NA	15	67	---	---	---	---
BCAM	4059	broad.mit.edu	37	19	45322440	45322440	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:45322440delG	ENST00000270233.6	+	11	1486	c.1464delG	c.(1462-1464)ttgfs	p.L488fs	BCAM_ENST00000589651.1_Frame_Shift_Del_p.L488fs	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	488	Ig-like C2-type 3.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	laminin binding (GO:0043236)|laminin receptor activity (GO:0005055)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				GGAGCCAATTGGGGGGCAGCG	0.597																																						uc002ozu.2		NA																	0				skin(1)	1						c.(1462-1464)TTGfs		basal cell adhesion molecule isoform 1							82.0	86.0	85.0					19																	45322440		2203	4300	6503	SO:0001589	frameshift_variant	4059				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity	g.chr19:45322440delG	X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6722	protein-coding gene	gene with protein product		612773	"""Lutheran blood group (Auberger b antigen included)"", ""basal cell adhesion molecule (Lu and Au blood groups)"""	LU			Standard	NM_005581		Approved	CD239	uc002ozu.4	P50895		ENST00000270233.6:c.1464delG	19.37:g.45322440delG	ENSP00000270233:p.Leu488fs					BCAM_uc002ozt.1_Frame_Shift_Del_p.L488fs	p.L488fs	NM_005581	NP_005572	P50895	BCAM_HUMAN			11	1508	+	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)	488			Extracellular (Potential).|Ig-like C2-type 3.		A8MYF9|A9YWT5|A9YWT6|Q86VC7	Frame_Shift_Del	DEL	ENST00000270233.6	37	c.1464delG	CCDS12644.1																																																																																				0.597	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453220.1	NM_005581		9	177	NA	NA	NA	NA	9	177	---	---	---	---
ARHGAP35	2909	broad.mit.edu	37	19	47424760	47424760	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:47424760delA	ENST00000404338.3	+	1	2828	c.2828delA	c.(2827-2829)gaafs	p.E943fs		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	943					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)	p.K945fs*3(1)									GATGTGGTGGAAAAAAAGAAC	0.473																																						uc010ekv.2		NA																	1	Deletion - Frameshift(1)		breast(1)	central_nervous_system(1)	1						c.(2827-2829)GAAfs		glucocorticoid receptor DNA binding factor 1																																				SO:0001589	frameshift_variant	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47424760delA	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.2828delA	19.37:g.47424760delA	ENSP00000385720:p.Glu943fs						p.E943fs	NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)	1	2828	+		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)	943					A7E2A4|Q14452|Q9C0E1	Frame_Shift_Del	DEL	ENST00000404338.3	37	c.2828delA	CCDS46127.1																																																																																				0.473	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		12	169	NA	NA	NA	NA	12	169	---	---	---	---
EHD2	30846	broad.mit.edu	37	19	48244287	48244287	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:48244287delG	ENST00000263277.3	+	6	1481	c.1230delG	c.(1228-1230)cagfs	p.Q410fs	EHD2_ENST00000540884.1_3'UTR|EHD2_ENST00000538399.1_Frame_Shift_Del_p.Q274fs	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	410					blood coagulation (GO:0007596)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein localization to plasma membrane (GO:0072659)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		TGGGCGTGCAGGGGGGCGCTT	0.677																																						uc002phj.3		NA																	0				ovary(1)|skin(1)	2						c.(1228-1230)CAGfs		EH-domain containing 2							46.0	48.0	47.0					19																	48244287		2203	4299	6502	SO:0001589	frameshift_variant	30846				blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding	g.chr19:48244287delG	AF181263	CCDS12704.1	19q13.3	2014-08-12			ENSG00000024422	ENSG00000024422		"""EF-hand domain containing"""	3243	protein-coding gene	gene with protein product		605890		PAST2		10673336	Standard	NM_014601		Approved		uc002phj.4	Q9NZN4	OTTHUMG00000183266	ENST00000263277.3:c.1230delG	19.37:g.48244287delG	ENSP00000263277:p.Gln410fs					EHD2_uc010xyu.1_Frame_Shift_Del_p.Q274fs|EHD2_uc010xyv.1_Frame_Shift_Del_p.Q93fs	p.Q410fs	NM_014601	NP_055416	Q9NZN4	EHD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)	6	1480	+		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)	410					B2RDH9|B4DNU6|Q96CB6	Frame_Shift_Del	DEL	ENST00000263277.3	37	c.1230delG	CCDS12704.1																																																																																				0.677	EHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465851.1			9	95	NA	NA	NA	NA	9	95	---	---	---	---
CLEC11A	6320	broad.mit.edu	37	19	51228371	51228372	+	Frame_Shift_Ins	INS	-	-	G	rs562569155	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:51228371_51228372insG	ENST00000250340.4	+	4	816_817	c.619_620insG	c.(619-621)cggfs	p.R207fs	CLEC11A_ENST00000599973.1_Frame_Shift_Ins_p.AG223fs	NM_002975.2	NP_002966.1	Q9Y240	CLC11_HUMAN	C-type lectin domain family 11, member A	207	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)			kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	7		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GTGCACGGCGCGGGGCGGGAGC	0.738													GGGG|GGGG|GGGGG|insertion	7	0.00139776	0.0	0.0014	5008	,	,		10727	0.0		0.004	False		,,,				2504	0.002					uc002psy.2		NA																	0				ovary(1)	1						c.(619-621)CGGfs		stem cell growth factor precursor				3,2917		0,3,1457						3.5	1.0			3	24,5960		4,16,2972	no	frameshift	CLEC11A	NM_002975.2		4,19,4429	A1A1,A1R,RR		0.4011,0.1027,0.3032				27,8877				SO:0001589	frameshift_variant	6320				positive regulation of cell proliferation	cytoplasm|extracellular region	growth factor activity|sugar binding	g.chr19:51228371_51228372insG	AF087658	CCDS12800.1	19q13.3	2010-04-27	2005-02-09	2005-02-11		ENSG00000105472		"""C-type lectin domain containing"""	10576	protein-coding gene	gene with protein product		604713	"""stem cell growth factor; lymphocyte secreted C-type lectin"""	SCGF		9207134, 9442024	Standard	NM_002975		Approved	P47, LSLCL, CLECSF3	uc002psy.3	Q9Y240		ENST00000250340.4:c.623dupG	19.37:g.51228375_51228375dupG	ENSP00000250340:p.Arg207fs						p.R207fs	NM_002975	NP_002966	Q9Y240	CLC11_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	4	797_798	+		all_neural(266;0.057)	207			C-type lectin.		B2RAD4	Frame_Shift_Ins	INS	ENST00000250340.4	37	c.619_620insG	CCDS12800.1																																																																																				0.738	CLEC11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464062.1	NM_002975		2	4	NA	NA	NA	NA	2	4	---	---	---	---
CNOT3	4849	broad.mit.edu	37	19	54649671	54649671	+	Frame_Shift_Del	DEL	T	T	-	rs36665	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:54649671delT	ENST00000406403.1	+	8	2332	c.729delT	c.(727-729)cctfs	p.P244fs	CNOT3_ENST00000221232.5_Frame_Shift_Del_p.P244fs|CNOT3_ENST00000358389.3_Frame_Shift_Del_p.P63fs			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	244					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCACCTCCCCTCCCAGCCACA	0.632																																						uc002qdj.1		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(727-729)CCCfs		CCR4-NOT transcription complex, subunit 3							130.0	105.0	113.0					19																	54649671		2203	4300	6503	SO:0001589	frameshift_variant	4849				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr19:54649671delT	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.729delT	19.37:g.54649671delT	ENSP00000383954:p.Pro244fs					CNOT3_uc010yel.1_Frame_Shift_Del_p.P243fs|CNOT3_uc002qdi.2_Frame_Shift_Del_p.P156fs|CNOT3_uc002qdk.1_Frame_Shift_Del_p.P243fs|CNOT3_uc010ere.1_RNA	p.P243fs	NM_014516	NP_055331	O75175	CNOT3_HUMAN			9	1040	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		243					Q9NZN7|Q9UF76	Frame_Shift_Del	DEL	ENST00000406403.1	37	c.729delT	CCDS12880.1																																																																																				0.632	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		9	100	NA	NA	NA	NA	9	100	---	---	---	---
SOS1	6654	broad.mit.edu	37	2	39222520	39222520	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:39222520delT	ENST00000426016.1	-	21	3176	c.3090delA	c.(3088-3090)aaafs	p.K1030fs	SOS1_ENST00000402219.2_Frame_Shift_Del_p.K1030fs|SOS1-IT1_ENST00000594472.1_RNA|SOS1_ENST00000395038.2_Frame_Shift_Del_p.K1030fs			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	1030					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				GATAGCTATATTTTTTTGGCT	0.388									Noonan syndrome																													uc002rrk.3		NA																	0				ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10						c.(3088-3090)AAAfs		son of sevenless homolog 1							91.0	94.0	93.0					2																	39222520		2203	4300	6503	SO:0001589	frameshift_variant	6654	Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39222520delT	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.3090delA	2.37:g.39222520delT	ENSP00000387784:p.Lys1030fs					SOS1_uc002rrj.3_Frame_Shift_Del_p.K644fs	p.K1030fs	NM_005633	NP_005624	Q07889	SOS1_HUMAN			20	3131	-		all_hematologic(82;0.21)	1030					A8K2G3|B4DXG2	Frame_Shift_Del	DEL	ENST00000426016.1	37	c.3090delA	CCDS1802.1																																																																																				0.388	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		7	186	NA	NA	NA	NA	7	186	---	---	---	---
MSH2	4436	broad.mit.edu	37	2	47639588	47639588	+	Frame_Shift_Del	DEL	A	A	-	rs63749897|rs587779975		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:47639588delA	ENST00000233146.2	+	4	904	c.681delA	c.(679-681)agafs	p.R227fs	MSH2_ENST00000406134.1_Frame_Shift_Del_p.R227fs|MSH2_ENST00000543555.1_Frame_Shift_Del_p.R161fs	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	227					ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TCACAGAAAGAAAAAAAGCTG	0.328			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													uc002rvy.1		NA	yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	D|Mis|N|F|S	mutS homolog 2 (E. coli)			E		colorectal|endometrial|ovarian	colorectal|endometrial|ovarian		3	Whole gene deletion(2)|Unknown(1)		haematopoietic_and_lymphoid_tissue(3)	large_intestine(33)|haematopoietic_and_lymphoid_tissue(6)|endometrium(4)|ovary(3)|cervix(2)|central_nervous_system(2)|stomach(1)|small_intestine(1)|breast(1)|skin(1)|prostate(1)	55						c.(679-681)AGAfs	MMR	mutS homolog 2							62.0	62.0	62.0					2																	47639588		2203	4300	6503	SO:0001589	frameshift_variant	4436	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	g.chr2:47639588delA	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"""mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)"", ""mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"""	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.681delA	2.37:g.47639588delA	ENSP00000233146:p.Arg227fs					MSH2_uc010yoh.1_Frame_Shift_Del_p.R161fs|MSH2_uc002rvz.2_Frame_Shift_Del_p.R227fs|MSH2_uc010fbg.2_Frame_Shift_Del_p.R87fs|MSH2_uc010fbf.1_Frame_Shift_Del_p.R134fs	p.R227fs	NM_000251	NP_000242	P43246	MSH2_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		4	749	+		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	227					B4E2Z2|O75488	Frame_Shift_Del	DEL	ENST00000233146.2	37	c.681delA	CCDS1834.1																																																																																				0.328	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250805.3			12	76	NA	NA	NA	NA	12	76	---	---	---	---
PNPT1	87178	broad.mit.edu	37	2	55894167	55894167	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:55894167delT	ENST00000447944.2	-	13	1221	c.1135delA	c.(1135-1137)accfs	p.T379fs		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	379					cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA polyadenylation (GO:0097222)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA 5'-end processing (GO:0000964)|mitochondrial RNA catabolic process (GO:0000957)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle arrest (GO:0071850)|mRNA catabolic process (GO:0006402)|negative regulation of growth (GO:0045926)|nuclear polyadenylation-dependent mRNA catabolic process (GO:0071042)|positive regulation of miRNA catabolic process (GO:2000627)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|positive regulation of mRNA catabolic process (GO:0061014)|protein homooligomerization (GO:0051260)|protein homotrimerization (GO:0070207)|regulation of cellular respiration (GO:0043457)|regulation of cellular senescence (GO:2000772)|RNA catabolic process (GO:0006401)|RNA import into mitochondrion (GO:0035927)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA polyadenylation (GO:0043631)|rRNA import into mitochondrion (GO:0035928)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrial degradosome (GO:0045025)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	3'-5'-exoribonuclease activity (GO:0000175)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|polyribonucleotide nucleotidyltransferase activity (GO:0004654)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CCATGAAGGGTTTTAAACATA	0.313																																						uc002rzf.2		NA																	0					0						c.(1135-1137)ACCfs		polyribonucleotide nucleotidyltransferase 1							109.0	105.0	106.0					2																	55894167		2203	4300	6503	SO:0001589	frameshift_variant	87178				mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding	g.chr2:55894167delT	BC053660	CCDS1856.1	2p15	2013-01-08			ENSG00000138035	ENSG00000138035			23166	protein-coding gene	gene with protein product	"""polynucleotide phosphorylase"", ""3'-5' RNA exonuclease"""	610316	"""deafness, autosomal recessive 70"""	DFNB70		12419256	Standard	NM_033109		Approved	PNPase, OLD35, old-35	uc002rzf.3	Q8TCS8	OTTHUMG00000129335	ENST00000447944.2:c.1135delA	2.37:g.55894167delT	ENSP00000400646:p.Thr379fs					PNPT1_uc002rzg.2_RNA	p.T379fs	NM_033109	NP_149100	Q8TCS8	PNPT1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		13	1188	-			379					Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	Frame_Shift_Del	DEL	ENST00000447944.2	37	c.1135delA	CCDS1856.1																																																																																				0.313	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251481.2	NM_033109		7	106	NA	NA	NA	NA	7	106	---	---	---	---
NIFK	84365	broad.mit.edu	37	2	122485323	122485323	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:122485323delT	ENST00000285814.4	-	7	931	c.859delA	c.(859-861)agafs	p.R289fs	AC018737.1_ENST00000419902.1_RNA	NM_032390.4	NP_115766.3	Q9BYG3	MK67I_HUMAN		289					negative regulation of phosphatase activity (GO:0010923)|protein complex assembly (GO:0006461)|rRNA metabolic process (GO:0016072)|rRNA transcription (GO:0009303)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						CTTCTTCGTCTTTTTTTCCGT	0.303																																						uc002tnk.2		NA																	0					0						c.(859-861)AGAfs		MKI67 interacting nucleolar phosphoprotein							126.0	124.0	125.0					2																	122485323		2203	4300	6503	SO:0001589	frameshift_variant	84365				protein complex assembly|rRNA metabolic process|rRNA transcription	condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr2:122485323delT																												ENST00000285814.4:c.859delA	2.37:g.122485323delT	ENSP00000285814:p.Arg289fs					uc002tnj.1_Intron	p.R287fs	NM_032390	NP_115766	Q9BYG3	MK67I_HUMAN			7	936	-			287					A8K788|Q8TB66|Q96ED4	Frame_Shift_Del	DEL	ENST00000285814.4	37	c.859delA	CCDS2135.1																																																																																				0.303	MKI67IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254239.2			20	275	NA	NA	NA	NA	20	275	---	---	---	---
ACVR2A	92	broad.mit.edu	37	2	148657041	148657041	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:148657041delA	ENST00000241416.7	+	3	914	c.278delA	c.(277-279)gaafs	p.E93fs	AC009480.3_ENST00000402410.2_RNA|ACVR2A_ENST00000404590.1_Frame_Shift_Del_p.E93fs|ACVR2A_ENST00000535787.1_5'UTR	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	93					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		GATTGTGTAGAAAAAAAAGAC	0.303																																						uc002twg.2		NA																	0				stomach(8)|large_intestine(2)|lung(1)|breast(1)|kidney(1)	13						c.(277-279)GAAfs		activin A receptor, type IIA precursor							80.0	86.0	84.0					2																	148657041		2198	4296	6494	SO:0001589	frameshift_variant	92				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	g.chr2:148657041delA		CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"""activin A receptor, type II"""	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.278delA	2.37:g.148657041delA	ENSP00000241416:p.Glu93fs					ACVR2A_uc010zbn.1_5'UTR|ACVR2A_uc002twh.2_Frame_Shift_Del_p.E93fs	p.E93fs	NM_001616	NP_001607	P27037	AVR2A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0969)	4	547	+			93			Extracellular (Potential).		B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Frame_Shift_Del	DEL	ENST00000241416.7	37	c.278delA	CCDS33301.1																																																																																				0.303	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319051.1	NM_001616		23	190	NA	NA	NA	NA	23	190	---	---	---	---
KCNH7	90134	broad.mit.edu	37	2	163374657	163374658	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:163374657_163374658insA	ENST00000332142.5	-	4	573_574	c.474_475insT	c.(472-477)tttgggfs	p.G159fs	KCNH7_ENST00000328032.4_Frame_Shift_Ins_p.G159fs|KCNH7_ENST00000477019.1_5'UTR	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	159					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	AATTTGAACCCAAAAAATTTCC	0.381																																					GBM(196;1492 2208 17507 24132 45496)	uc002uch.1		NA																	0				ovary(3)|skin(2)	5						c.(472-477)TTTGGGfs		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)																																			SO:0001589	frameshift_variant	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163374657_163374658insA	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.475dupT	2.37:g.163374663_163374663dupA	ENSP00000331727:p.Gly159fs					KCNH7_uc002uci.2_Frame_Shift_Ins_p.F158fs	p.F158fs	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN			4	686_687	-			158_159			Cytoplasmic (Potential).		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Frame_Shift_Ins	INS	ENST00000332142.5	37	c.474_475insT	CCDS2219.1																																																																																				0.381	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		9	110	NA	NA	NA	NA	9	110	---	---	---	---
HOXD8	3234	broad.mit.edu	37	2	176995417	176995417	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:176995417delC	ENST00000313173.4	+	1	950	c.323delC	c.(322-324)gccfs	p.A108fs	HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000544999.1_Frame_Shift_Del_p.A108fs|HOXD8_ENST00000450510.2_Frame_Shift_Del_p.A108fs|HOXD8_ENST00000548663.1_Intron|HOXD8_ENST00000429017.1_Intron	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8	108					anterior/posterior axis specification, embryo (GO:0008595)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		TACCAGGCCGccccccctcct	0.741																																						uc002uko.2		NA																	0					0						c.(322-324)GCCfs		homeobox D8							23.0	30.0	27.0					2																	176995417		1915	3930	5845	SO:0001589	frameshift_variant	3234				anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176995417delC		CCDS2268.1, CCDS56148.1, CCDS56149.1	2q31.1	2011-06-20	2005-12-22		ENSG00000175879	ENSG00000175879		"""Homeoboxes / ANTP class : HOXL subclass"""	5139	protein-coding gene	gene with protein product		142985	"""homeo box D8"""	HOX4, HOX4E		1973146, 1358459	Standard	NM_001199747		Approved		uc002uko.3	P13378	OTTHUMG00000132513	ENST00000313173.4:c.323delC	2.37:g.176995417delC	ENSP00000315949:p.Ala108fs					uc002ukl.1_5'Flank|uc002ukm.1_5'Flank|HOXD8_uc002ukn.2_Intron|HOXD8_uc002ukp.2_Frame_Shift_Del_p.A108fs	p.A108fs	NM_019558	NP_062458	P13378	HXD8_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)	1	941	+			108					F8WBG7|Q5BL00|Q8IXZ1	Frame_Shift_Del	DEL	ENST00000313173.4	37	c.323delC	CCDS2268.1																																																																																				0.741	HOXD8-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255694.1			18	86	NA	NA	NA	NA	18	86	---	---	---	---
TRIP12	9320	broad.mit.edu	37	2	230724116	230724116	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:230724116delT	ENST00000283943.5	-	3	451	c.273delA	c.(271-273)aaafs	p.K91fs	TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000389044.4_Frame_Shift_Del_p.K133fs|TRIP12_ENST00000543084.1_Frame_Shift_Del_p.K133fs|TRIP12_ENST00000409677.1_Frame_Shift_Del_p.K133fs	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	91					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GTGCTTTTGGTTTTTTTGCAG	0.433																																						uc002vpw.1		NA																	0				ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9						c.(271-273)AAAfs		thyroid hormone receptor interactor 12							171.0	169.0	170.0					2																	230724116		2203	4300	6503	SO:0001589	frameshift_variant	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230724116delT	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.273delA	2.37:g.230724116delT	ENSP00000283943:p.Lys91fs					TRIP12_uc002vpx.1_Frame_Shift_Del_p.K133fs|TRIP12_uc002vpy.1_Intron|TRIP12_uc010zlz.1_RNA|TRIP12_uc010fxh.1_Frame_Shift_Del_p.K91fs	p.K91fs	NM_004238	NP_004229	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	3	382	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	91					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Frame_Shift_Del	DEL	ENST00000283943.5	37	c.273delA	CCDS33391.1																																																																																				0.433	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		10	358	NA	NA	NA	NA	10	358	---	---	---	---
SPAG4	6676	broad.mit.edu	37	20	34208803	34208803	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr20:34208803delC	ENST00000374273.3	+	12	1285	c.1173delC	c.(1171-1173)gacfs	p.D391fs		NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	391	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|motile cilium (GO:0031514)	structural molecule activity (GO:0005198)	p.P393fs*7(1)		NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			CCCAGAATGACCCCCCAGCTG	0.577																																						uc002xdb.1		NA																	1	Deletion - Frameshift(1)		large_intestine(1)		0						c.(1171-1173)GACfs		sperm associated antigen 4							85.0	83.0	84.0					20																	34208803		2203	4300	6503	SO:0001589	frameshift_variant	6676				spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity	g.chr20:34208803delC	AF043344	CCDS13259.1	20q11.2	2010-04-23			ENSG00000061656	ENSG00000061656			11214	protein-coding gene	gene with protein product	"""acrosomal protein ACR55"", ""Sad1 and UNC84 domain containing 4"", ""cancer/testis antigen 127"""	603038				9691178, 10373309	Standard	NM_003116		Approved	SUN4, CT127	uc002xdb.1	Q9NPE6	OTTHUMG00000032352	ENST00000374273.3:c.1173delC	20.37:g.34208803delC	ENSP00000363391:p.Asp391fs					SPAG4_uc010zvi.1_Frame_Shift_Del_p.D314fs	p.D391fs	NM_003116	NP_003107	Q9NPE6	SPAG4_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0127)		12	1290	+	Lung NSC(9;0.0053)|all_lung(11;0.00785)		391			SUN.		O43648	Frame_Shift_Del	DEL	ENST00000374273.3	37	c.1173delC	CCDS13259.1																																																																																				0.577	SPAG4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078896.1	NM_003116		10	140	NA	NA	NA	NA	10	140	---	---	---	---
CDC45	8318	broad.mit.edu	37	22	19495334	19495336	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr22:19495334_19495336delCTC	ENST00000407835.1	+	13	1258_1260	c.1002_1004delCTC	c.(1000-1005)atctcc>atc	p.S335del	CDC45_ENST00000404724.3_In_Frame_Del_p.S289del|CDC45_ENST00000437685.2_In_Frame_Del_p.S367del|CDC45_ENST00000263201.1_In_Frame_Del_p.S335del			O75419	CDC45_HUMAN	cell division cycle 45	335					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						CCATGGACATCTCCTTGAAGGAG	0.453																																						uc002zpr.2		NA																	0				lung(1)	1						c.(1000-1005)ATCTCC>ATC		CDC45-like																																				SO:0001651	inframe_deletion	8318				DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding	g.chr22:19495334_19495336delCTC	AF053074	CCDS13762.1, CCDS54499.1, CCDS54500.1	22q11.21	2013-01-17	2013-01-17	2010-03-24	ENSG00000093009	ENSG00000093009			1739	protein-coding gene	gene with protein product	"""human CDC45"""	603465	"""CDC45 (cell division cycle 45, S.cerevisiae, homolog)-like"", ""CDC45 cell division cycle 45-like (S. cerevisiae)"", ""cell division cycle 45 homolog (S. cerevisiae)"""	CDC45L2, CDC45L		9660782, 9724329, 17608804	Standard	NM_001178010		Approved		uc011aha.2	O75419	OTTHUMG00000150386	ENST00000407835.1:c.1002_1004delCTC	22.37:g.19495334_19495336delCTC	ENSP00000385240:p.Ser335del					CDC45_uc011agz.1_In_Frame_Del_p.S330del|CDC45_uc011aha.1_In_Frame_Del_p.S367del|CDC45_uc002zps.2_In_Frame_Del_p.S335del|CDC45_uc002zpt.2_In_Frame_Del_p.S289del	p.S335del	NM_003504	NP_003495	O75419	CDC45_HUMAN			12	1078_1080	+			335					B4DDB4|B4DDU3|E9PDH7|O60856|Q20WK8|Q6UW54|Q9UP68	In_Frame_Del	DEL	ENST00000407835.1	37	c.1002_1004delCTC	CCDS13762.1																																																																																				0.453	CDC45-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317903.1	NM_003504		11	108	NA	NA	NA	NA	11	108	---	---	---	---
TTLL3	26140	broad.mit.edu	37	3	9862377	9862377	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:9862377delC	ENST00000547186.1	+	7	893	c.677delC	c.(676-678)accfs	p.T226fs	TTLL3_ENST00000383827.1_Frame_Shift_Del_p.T14fs|TTLL3_ENST00000455274.1_Frame_Shift_Del_p.T14fs|TTLL3_ENST00000426895.4_Frame_Shift_Del_p.T369fs|TTLL3_ENST00000430793.1_Frame_Shift_Del_p.T14fs|TTLL3_ENST00000427853.3_Frame_Shift_Del_p.T14fs|TTLL3_ENST00000397241.1_Frame_Shift_Del_p.T14fs|ARPC4-TTLL3_ENST00000397256.1_Frame_Shift_Del_p.T287fs	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	226	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					CTGTACCTCACCCCCGAGGGC	0.602																																						uc003btg.2		NA																	0				large_intestine(2)	2						c.(676-678)ACCfs		tubulin tyrosine ligase-like family, member 3							122.0	103.0	109.0					3																	9862377		2203	4300	6503	SO:0001589	frameshift_variant	26140				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity	g.chr3:9862377delC		CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021		"""Tubulin tyrosine ligase-like family"""	24483	protein-coding gene	gene with protein product						11054573	Standard	NR_037162		Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000547186.1:c.677delC	3.37:g.9862377delC	ENSP00000446659:p.Thr226fs					ARPC4_uc003btc.1_Intron|TTLL3_uc003btd.3_Frame_Shift_Del_p.T193fs|TTLL3_uc003btf.3_Frame_Shift_Del_p.T14fs|TTLL3_uc010hco.1_Frame_Shift_Del_p.T162fs|TTLL3_uc003bth.3_Frame_Shift_Del_p.T14fs|TTLL3_uc011atj.1_Frame_Shift_Del_p.T162fs|TTLL3_uc003btj.3_Frame_Shift_Del_p.T14fs|TTLL3_uc003bti.3_Frame_Shift_Del_p.T14fs	p.T226fs	NM_001025930	NP_001021100	Q9Y4R7	TTLL3_HUMAN			7	893	+	Medulloblastoma(99;0.227)		226			TTL.		Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	Frame_Shift_Del	DEL	ENST00000547186.1	37	c.677delC																																																																																					0.602	TTLL3-203	KNOWN	basic	protein_coding	protein_coding		NM_001025930.2		8	143	NA	NA	NA	NA	8	143	---	---	---	---
P4HTM	54681	broad.mit.edu	37	3	49042369	49042369	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:49042369delG	ENST00000383729.4	+	6	1334	c.963delG	c.(961-963)gagfs	p.E321fs	WDR6_ENST00000395474.3_5'Flank|P4HTM_ENST00000343546.4_Frame_Shift_Del_p.E321fs|WDR6_ENST00000448293.1_5'Flank|WDR6_ENST00000415265.2_5'Flank|WDR6_ENST00000608424.1_5'Flank	NM_177939.2	NP_808808.1	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	321	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	GATATGGTGAGGGGGGCCACT	0.617																																						uc003cvg.2		NA																	0				skin(1)|pancreas(1)	2						c.(961-963)GAGfs		hypoxia-inducible factor prolyl 4-hydroxylase	Vitamin C(DB00126)						100.0	85.0	90.0					3																	49042369		2203	4300	6503	SO:0001589	frameshift_variant	54681					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr3:49042369delG		CCDS2781.2, CCDS43089.1	3p21.31	2009-01-14			ENSG00000178467	ENSG00000178467			28858	protein-coding gene	gene with protein product	"""Prolyl hydroxlase domain-containing 4"", ""hypoxia inducible factor prolyl 4 hydroxylase"""	614584				12163023, 17726031	Standard	XR_245139		Approved	P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4	uc003cvh.3	Q9NXG6	OTTHUMG00000074057	ENST00000383729.4:c.963delG	3.37:g.49042369delG	ENSP00000373235:p.Glu321fs					P4HTM_uc003cvh.2_Frame_Shift_Del_p.E321fs|WDR6_uc011bbx.1_5'Flank|WDR6_uc003cvj.2_5'Flank|WDR6_uc011bby.1_5'Flank|WDR6_uc010hkn.2_5'Flank|WDR6_uc011bbz.1_5'Flank	p.E321fs	NM_177939	NP_808808	Q9NXG6	P4HTM_HUMAN			6	1312	+			321			Lumenal (Potential).|Fe2OG dioxygenase.		Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77	Frame_Shift_Del	DEL	ENST00000383729.4	37	c.963delG	CCDS43089.1																																																																																				0.617	P4HTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157211.1	NM_177938		17	157	NA	NA	NA	NA	17	157	---	---	---	---
PRKCD	5580	broad.mit.edu	37	3	53220653	53220653	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:53220653delG	ENST00000394729.2	+	13	1622	c.1294delG	c.(1294-1296)gggfs	p.G433fs	PRKCD_ENST00000330452.3_Frame_Shift_Del_p.G433fs	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	433	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	GTTCCTCAACGGGGGGGACCT	0.602																																						uc003dgl.2		NA																	0				central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9						c.(1294-1296)GGGfs		protein kinase C, delta							215.0	220.0	218.0					3																	53220653		2203	4300	6503	SO:0001589	frameshift_variant	5580				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding	g.chr3:53220653delG		CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.1294delG	3.37:g.53220653delG	ENSP00000378217:p.Gly433fs					PRKCD_uc003dgm.2_Frame_Shift_Del_p.G432fs	p.G432fs	NM_006254	NP_006245	Q05655	KPCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	14	1647	+		Ovarian(412;0.0728)	432			Protein kinase.		B0KZ81|B2R834|Q15144|Q86XJ6	Frame_Shift_Del	DEL	ENST00000394729.2	37	c.1294delG	CCDS2870.1																																																																																				0.602	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1			11	659	NA	NA	NA	NA	11	659	---	---	---	---
B3GNT5	84002	broad.mit.edu	37	3	182987617	182987617	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:182987617delA	ENST00000326505.3	+	2	561	c.31delA	c.(31-33)aaafs	p.K12fs	MCF2L2_ENST00000447025.2_Intron|B3GNT5_ENST00000465010.1_Frame_Shift_Del_p.K12fs|B3GNT5_ENST00000460419.1_Frame_Shift_Del_p.K12fs|MCF2L2_ENST00000473233.1_Intron|MCF2L2_ENST00000328913.3_Intron	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	12					cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycolipid biosynthetic process (GO:0009247)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity (GO:0008457)|galactosyltransferase activity (GO:0008378)|lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase activity (GO:0047256)|lipopolysaccharide N-acetylglucosaminyltransferase activity (GO:0008917)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CAGAAGAGTCAAAAAATGGCA	0.373																																						uc003flk.2		NA																	0				ovary(1)	1						c.(31-33)AAAfs		UDP-GlcNAc:betaGal							126.0	125.0	125.0					3																	182987617		2203	4300	6503	SO:0001589	frameshift_variant	84002				central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity	g.chr3:182987617delA	AB045278	CCDS3244.1	3q28	2013-02-21			ENSG00000176597	ENSG00000176597	2.4.1.206	"""Beta 3-glycosyltransferases"""	15684	protein-coding gene	gene with protein product	"""lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase"""	615333				11283017	Standard	XM_005247824		Approved	B3GN-T5, beta3Gn-T5	uc003flk.3	Q9BYG0	OTTHUMG00000158436	ENST00000326505.3:c.31delA	3.37:g.182987617delA	ENSP00000316173:p.Lys12fs					MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003fll.2_Frame_Shift_Del_p.K11fs|B3GNT5_uc003flm.2_Frame_Shift_Del_p.K11fs	p.K11fs	NM_032047	NP_114436	Q9BYG0	B3GN5_HUMAN	all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		2	561	+	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		11			Cytoplasmic (Potential).		D3DNS5|Q59FE3|Q7L9Z5|Q8WWP9	Frame_Shift_Del	DEL	ENST00000326505.3	37	c.31delA	CCDS3244.1																																																																																				0.373	B3GNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351009.1	NM_032047		11	235	NA	NA	NA	NA	11	235	---	---	---	---
MB21D2	151963	broad.mit.edu	37	3	192517004	192517004	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:192517004delT	ENST00000392452.2	-	2	967	c.647delA	c.(646-648)aatfs	p.N216fs		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	216							protein complex binding (GO:0032403)	p.N214fs*11(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						GATGGTCCCATTTTTTTCCAC	0.463																																						uc011bsp.1		NA																	1	Deletion - Frameshift(1)		lung(1)		0						c.(646-648)AATfs		hypothetical protein LOC151963							160.0	147.0	151.0					3																	192517004		2203	4300	6503	SO:0001589	frameshift_variant	151963							g.chr3:192517004delT	AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 59"""	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.647delA	3.37:g.192517004delT	ENSP00000376246:p.Asn216fs						p.N216fs	NM_178496	NP_848591	Q8IYB1	M21D2_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06)	GBM - Glioblastoma multiforme(46;3.86e-05)	2	968	-	all_cancers(143;1.56e-08)|Ovarian(172;0.0634)		216					Q86VD8	Frame_Shift_Del	DEL	ENST00000392452.2	37	c.647delA	CCDS3302.2																																																																																				0.463	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341543.1	NM_178496		9	136	NA	NA	NA	NA	9	136	---	---	---	---
ZNF721	170960	broad.mit.edu	37	4	436405	436406	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:436405_436406delCT	ENST00000338977.5	-	2	1862_1863	c.1814_1815delAG	c.(1813-1815)gagfs	p.E605fs	ZNF721_ENST00000511833.2_Frame_Shift_Del_p.E617fs|ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA			Q8TF20	ZN721_HUMAN	zinc finger protein 721	605					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						CTTTGCCACACTCTTCACATTT	0.411																																						uc003gag.2		NA																	0				ovary(1)	1						c.(1849-1851)GAGfs		zinc finger protein 721																																				SO:0001589	frameshift_variant	170960					intracellular	nucleic acid binding|zinc ion binding	g.chr4:436405_436406delCT	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.1814_1815delAG	4.37:g.436407_436408delCT	ENSP00000340524:p.Glu605fs					ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Frame_Shift_Del_p.E649fs|ZNF721_uc010ibe.2_Frame_Shift_Del_p.E605fs	p.E617fs	NM_133474	NP_597731	D9N162	D9N162_HUMAN			3	2541_2542	-			617					Q69YG7	Frame_Shift_Del	DEL	ENST00000338977.5	37	c.1850_1851delAG																																																																																					0.411	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474		48	592	NA	NA	NA	NA	48	592	---	---	---	---
HNRNPDL	9987	broad.mit.edu	37	4	83350506	83350506	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:83350506delG	ENST00000295470.5	-	1	513	c.338delC	c.(337-339)cctfs	p.P113fs	ENOPH1_ENST00000273920.3_5'Flank|HNRNPDL_ENST00000502762.1_Frame_Shift_Del_p.P113fs|HNRNPDL_ENST00000349655.4_5'UTR|HNRNPDL_ENST00000602300.1_5'UTR|HNRNPDL_ENST00000514511.1_5'UTR|ENOPH1_ENST00000509635.1_5'Flank	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	113					regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|single-stranded DNA binding (GO:0003697)	p.P113fs*11(1)									GCTGTCGGCAGGGGGGTGCTG	0.597																																						uc003hmr.2		NA																	1	Deletion - Frameshift(1)		lung(1)	skin(1)	1						c.(337-339)CCTfs		heterogeneous nuclear ribonucleoprotein D-like																																				SO:0001589	frameshift_variant	9987				regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|heterogeneous nuclear ribonucleoprotein complex	double-stranded DNA binding|nucleotide binding|poly(A) RNA binding|protein binding|single-stranded DNA binding	g.chr4:83350506delG	D89092	CCDS3593.1, CCDS75153.1	4q21.22	2013-06-12		2013-06-12	ENSG00000152795	ENSG00000152795		"""RNA binding motif (RRM) containing"""	5037	protein-coding gene	gene with protein product		607137		HNRPDL		10072754, 9524220	Standard	NM_001207000		Approved	JKTBP, laAUF1	uc003hmr.3	O14979	OTTHUMG00000130299	ENST00000295470.5:c.338delC	4.37:g.83350506delG	ENSP00000295470:p.Pro113fs					ENOPH1_uc003hmv.2_5'Flank|ENOPH1_uc003hmw.2_5'Flank|ENOPH1_uc003hmx.2_5'Flank|HNRPDL_uc003hmq.2_RNA|HNRPDL_uc003hms.2_RNA|HNRPDL_uc003hmt.2_Frame_Shift_Del_p.P113fs	p.P113fs	NM_031372	NP_112740	O14979	HNRDL_HUMAN			1	873	-		Hepatocellular(203;0.114)	113					Q6SPF2|Q7KZ74|Q7KZ75|Q96IM0|Q96S43	Frame_Shift_Del	DEL	ENST00000295470.5	37	c.338delC	CCDS3593.1																																																																																				0.597	HNRNPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252644.1	NM_005463		7	131	NA	NA	NA	NA	7	131	---	---	---	---
LARP1B	55132	broad.mit.edu	37	4	129121769	129121769	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:129121769delT	ENST00000326639.6	+	17	2469	c.2258delT	c.(2257-2259)atgfs	p.M753fs	LARP1B_ENST00000506199.1_3'UTR|LARP1B_ENST00000354456.3_Frame_Shift_Del_p.M172fs|LARP1B_ENST00000264584.5_Frame_Shift_Del_p.M694fs|LARP1B_ENST00000441387.1_Frame_Shift_Del_p.M753fs	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	753						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						AATAAAAAAATGTATGAGGAA	0.343																																						uc003iga.2		NA																	0					0						c.(2257-2259)ATGfs		La ribonucleoprotein domain family member 2							43.0	43.0	43.0					4																	129121769		2203	4298	6501	SO:0001589	frameshift_variant	55132						RNA binding	g.chr4:129121769delT		CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"""La ribonucleoprotein domain containing"""	24704	protein-coding gene	gene with protein product			"""La ribonucleoprotein domain family, member 2"""	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.2258delT	4.37:g.129121769delT	ENSP00000321997:p.Met753fs					LARP1B_uc003igc.2_Frame_Shift_Del_p.M172fs|LARP1B_uc010ioa.1_RNA|LARP1B_uc003ige.2_RNA|LARP1B_uc003igd.2_RNA|LARP1B_uc003igf.2_5'UTR	p.M753fs	NM_018078	NP_060548	Q659C4	LAR1B_HUMAN			17	2389	+			753					Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Frame_Shift_Del	DEL	ENST00000326639.6	37	c.2258delT	CCDS3738.1																																																																																				0.343	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257173.2	NM_018078		9	76	NA	NA	NA	NA	9	76	---	---	---	---
DCHS2	54798	broad.mit.edu	37	4	155157144	155157144	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:155157144delA	ENST00000357232.4	-	25	7294	c.7295delT	c.(7294-7296)ttcfs	p.F2432fs		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2432	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGGGAGGGTGAAAAAATACTG	0.438																																						uc003inw.2		NA																	0				ovary(3)|pancreas(1)	4						c.(7294-7296)TTCfs		dachsous 2 isoform 1							83.0	85.0	84.0					4																	155157144		2203	4300	6503	SO:0001589	frameshift_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155157144delA	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.7295delT	4.37:g.155157144delA	ENSP00000349768:p.Phe2432fs						p.F2432fs	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	7295	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2432			Cadherin 22.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Frame_Shift_Del	DEL	ENST00000357232.4	37	c.7295delT	CCDS3785.1																																																																																				0.438	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		10	158	NA	NA	NA	NA	10	158	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187517815	187517815	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:187517815delG	ENST00000441802.2	-	25	13088	c.12879delC	c.(12877-12879)cacfs	p.H4293fs	FAT1_ENST00000512347.1_5'Flank	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4293					actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.H4293H(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTCGGTGCCCGTGCACAGACT	0.552										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	1	Substitution - coding silent(1)		prostate(1)	ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(12877-12879)CACfs		FAT tumor suppressor 1 precursor							54.0	59.0	57.0					4																	187517815		2096	4225	6321	SO:0001589	frameshift_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187517815delG	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.12879delC	4.37:g.187517815delG	ENSP00000406229:p.His4293fs	HNSCC(5;0.00058)				FAT1_uc010isn.2_5'Flank|FAT1_uc003ize.2_Frame_Shift_Del_p.H184fs	p.H4293fs	NM_005245	NP_005236	Q14517	FAT1_HUMAN			25	13067	-			4293			Cytoplasmic (Potential).			Frame_Shift_Del	DEL	ENST00000441802.2	37	c.12879delC	CCDS47177.1																																																																																				0.552	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		7	50	NA	NA	NA	NA	7	50	---	---	---	---
MTRR	4552	broad.mit.edu	37	5	7875406	7875406	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:7875406delG	ENST00000264668.2	+	4	430	c.400delG	c.(400-402)gggfs	p.G135fs	MTRR_ENST00000341013.6_Frame_Shift_Del_p.M55fs|MTRR_ENST00000502509.1_3'UTR|MTRR_ENST00000440940.2_Frame_Shift_Del_p.G108fs	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	135	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|DNA methylation (GO:0006306)|folic acid metabolic process (GO:0046655)|methionine biosynthetic process (GO:0009086)|methionine metabolic process (GO:0006555)|methylation (GO:0032259)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	[methionine synthase] reductase activity (GO:0030586)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor (GO:0016723)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	CTTTTGCAATGGGGGGAAGAT	0.408																																						uc003jed.2		NA																	0				ovary(1)	1						c.(400-402)GGGfs		methionine synthase reductase isoform 2	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)						136.0	145.0	142.0					5																	7875406		2203	4300	6503	SO:0001589	frameshift_variant	4552				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding	g.chr5:7875406delG	AF025794	CCDS3874.1, CCDS47190.1	5p15.31	2011-05-12			ENSG00000124275	ENSG00000124275	1.16.1.8		7473	protein-coding gene	gene with protein product		602568				9501215	Standard	NM_024010		Approved	cblE	uc003jed.3	Q9UBK8	OTTHUMG00000090477	ENST00000264668.2:c.400delG	5.37:g.7875406delG	ENSP00000264668:p.Gly135fs					MTRR_uc010itn.1_RNA|MTRR_uc003jee.3_Frame_Shift_Del_p.G107fs|MTRR_uc003jef.3_RNA|MTRR_uc003jeg.3_RNA|MTRR_uc010ito.2_RNA	p.G134fs	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN			4	430	+			134			FMN (By similarity).|Flavodoxin-like.		O60471|Q32MA9|Q7Z4M8	Frame_Shift_Del	DEL	ENST00000264668.2	37	c.400delG	CCDS3874.1																																																																																				0.408	MTRR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206931.1			14	364	NA	NA	NA	NA	14	364	---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150924483	150924484	+	Frame_Shift_Ins	INS	-	-	G	rs371598238		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:150924483_150924484insG	ENST00000261800.5	-	9	6216_6217	c.6204_6205insC	c.(6202-6207)cccaaafs	p.K2069fs		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2069	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCTTAAATTTGGGGGGATTGT	0.505																																						uc003lue.3		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(6202-6207)CCCAAAfs		FAT tumor suppressor 2 precursor																																				SO:0001589	frameshift_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150924483_150924484insG	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.6205dupC	5.37:g.150924489_150924489dupG	ENSP00000261800:p.Lys2069fs					GM2A_uc011dcs.1_Intron	p.P2068fs	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	6217_6218	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2068_2069			Extracellular (Potential).|Cadherin 17.		O75091|Q9NSR7	Frame_Shift_Ins	INS	ENST00000261800.5	37	c.6204_6205insC	CCDS4317.1																																																																																				0.505	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		16	188	NA	NA	NA	NA	16	188	---	---	---	---
HLA-C	3107	broad.mit.edu	37	6	31238162	31238162	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:31238162delG	ENST00000376228.5	-	4	734	c.720delC	c.(718-720)accfs	p.T240fs	HLA-C_ENST00000383329.3_Frame_Shift_Del_p.T240fs	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	240	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						CCCGCTGCCAGGTCAGTGTGA	0.637																																						uc003nsy.2		NA																	0					0						c.(718-720)ACCfs		major histocompatibility complex, class I, C							40.0	39.0	39.0					6																	31238162		2202	4288	6490	SO:0001589	frameshift_variant	3107				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex		g.chr6:31238162delG	M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4933	protein-coding gene	gene with protein product		142840	"""psoriasis susceptibility 1"""	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.720delC	6.37:g.31238162delG	ENSP00000365402:p.Thr240fs					HLA-C_uc011dnj.1_Frame_Shift_Del_p.T212fs|HLA-C_uc003nsx.2_Frame_Shift_Del_p.T119fs|HLA-C_uc003nsz.2_Frame_Shift_Del_p.T240fs|HLA-C_uc010jsl.2_Frame_Shift_Del_p.T240fs|HLA-C_uc003nta.2_Frame_Shift_Del_p.T240fs|HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_Intron|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Intron|HLA-C_uc011dnl.1_Frame_Shift_Del_p.T119fs	p.T240fs	NM_002117	NP_002108	Q9TNN7	1C05_HUMAN			4	727	-			240			Extracellular (Potential).|Alpha-3.|Ig-like C1-type.		O02864|O02958|Q29643|Q9MY30	Frame_Shift_Del	DEL	ENST00000376228.5	37	c.720delC	CCDS34393.1																																																																																				0.637	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		18	137	NA	NA	NA	NA	18	137	---	---	---	---
ZBTB22	9278	broad.mit.edu	37	6	33283004	33283005	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:33283004_33283005delCA	ENST00000431845.2	-	2	1840_1841	c.1689_1690delTG	c.(1687-1692)tgtgagfs	p.CE563fs	TAPBP_ENST00000475304.1_5'Flank|TAPBP_ENST00000426633.2_5'Flank|TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000489157.1_5'Flank|ZBTB22_ENST00000418724.1_Frame_Shift_Del_p.CE563fs	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	563					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)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						TGCCGGCGCTCACAGTGTCCTC	0.663																																						uc003oeb.2		NA																	0				ovary(1)	1						c.(1687-1692)TGTGAGfs		zinc finger and BTB domain containing 22																																				SO:0001589	frameshift_variant	9278				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33283004_33283005delCA	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.1689_1690delTG	6.37:g.33283006_33283007delCA	ENSP00000407545:p.Cys563fs					TAPBP_uc003odx.1_5'Flank|TAPBP_uc010jus.1_5'Flank|TAPBP_uc003ody.2_5'Flank|TAPBP_uc003odz.2_5'Flank|TAPBP_uc010jut.1_5'Flank|TAPBP_uc011drc.1_5'Flank|ZBTB22_uc010juu.2_Frame_Shift_Del_p.C563fs	p.C563fs	NM_005453	NP_005444	O15209	ZBT22_HUMAN			2	1841_1842	-			563_564					B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Frame_Shift_Del	DEL	ENST00000431845.2	37	c.1689_1690delTG	CCDS4775.1																																																																																				0.663	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			11	83	NA	NA	NA	NA	11	83	---	---	---	---
ANKS1A	23294	broad.mit.edu	37	6	34951143	34951143	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:34951143delC	ENST00000360359.3	+	7	1091	c.953delC	c.(952-954)accfs	p.T318fs	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	318					ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GTAGATAAAACCCCCCCACCC	0.418																																						uc003ojx.3		NA																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(952-954)ACCfs		ankyrin repeat and sterile alpha motif domain							130.0	152.0	144.0					6																	34951143		2203	4300	6503	SO:0001589	frameshift_variant	23294					cytoplasm	protein binding	g.chr6:34951143delC	D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20961	protein-coding gene	gene with protein product		608994	"""ankyrin repeat and SAM domain containing 1"", ""ankyrin repeat and sterile alpha motif domain containing 1"""	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.953delC	6.37:g.34951143delC	ENSP00000353518:p.Thr318fs					ANKS1A_uc011dss.1_Intron|ANKS1A_uc011dst.1_5'UTR|ANKS1A_uc010jvp.1_5'UTR	p.T318fs	NM_015245	NP_056060	Q92625	ANS1A_HUMAN			7	1095	+			318					A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Frame_Shift_Del	DEL	ENST00000360359.3	37	c.953delC	CCDS4798.1																																																																																				0.418	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478		21	245	NA	NA	NA	NA	21	245	---	---	---	---
SLC35F1	222553	broad.mit.edu	37	6	118596759	118596759	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:118596759delT	ENST00000360388.4	+	5	976	c.775delT	c.(775-777)tttfs	p.F260fs		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	260					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		CTTTGGAGCATTTTTCAGTGG	0.378																																						uc003pxx.3		NA																	0				breast(1)	1						c.(775-777)TTTfs		solute carrier family 35, member F1							95.0	94.0	94.0					6																	118596759		2203	4300	6503	SO:0001589	frameshift_variant	222553				transport	integral to membrane		g.chr6:118596759delT	BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376		"""Solute carriers"""	21483	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 169"""	C6orf169			Standard	NM_001029858		Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	ENST00000360388.4:c.775delT	6.37:g.118596759delT	ENSP00000353557:p.Phe260fs					SLC35F1_uc003pxy.1_Frame_Shift_Del_p.F64fs	p.F259fs	NM_001029858	NP_001025029	Q5T1Q4	S35F1_HUMAN		GBM - Glioblastoma multiforme(226;0.217)	5	976	+			259			Helical; (Potential).		E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Frame_Shift_Del	DEL	ENST00000360388.4	37	c.775delT	CCDS34524.1																																																																																				0.378	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041991.2	XM_167044		12	118	NA	NA	NA	NA	12	118	---	---	---	---
TCP10	6953	broad.mit.edu	37	6	167791449	167791450	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:167791449_167791450insG	ENST00000397829.4	-	4	577_578	c.410_411insC	c.(409-411)cctfs	p.P137fs	TCP10_ENST00000366827.2_Frame_Shift_Ins_p.P137fs	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	164				D -> E (in Ref. 1; AAA82109 and 3; AAH63451). {ECO:0000305}.		cytosol (GO:0005829)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		TCACCTTTGGAGGAGCTAAGTG	0.515																																						uc003qvv.1		NA																	0				breast(1)	1						c.(409-411)CCTfs		t-complex 10																																				SO:0001589	frameshift_variant	6953					cytosol		g.chr6:167791449_167791450insG	U03399	CCDS43527.1	6q27	2012-09-20	2012-09-20		ENSG00000203690	ENSG00000203690			11656	protein-coding gene	gene with protein product		187020	"""t-complex 10 (a murine tcp homolog)"", ""t-complex 10 (mouse)"", ""t-complex 10 homolog (mouse)"""			8111376	Standard	NM_004610		Approved		uc003qvv.1	Q12799	OTTHUMG00000016026	ENST00000397829.4:c.411dupC	6.37:g.167791451_167791451dupG	ENSP00000380929:p.Pro137fs					TCP10_uc003qvu.2_Frame_Shift_Ins_p.P137fs|TCP10_uc003qvw.2_Frame_Shift_Ins_p.P113fs	p.P137fs	NM_004610	NP_004601	Q12799	TCP10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)	4	622_623	-		Breast(66;1.53e-05)|Ovarian(120;0.024)	164					Q5JR60|Q6P4F4	Frame_Shift_Ins	INS	ENST00000397829.4	37	c.410_411insC	CCDS43527.1																																																																																				0.515	TCP10-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365570.1	NM_004610		13	420	NA	NA	NA	NA	13	420	---	---	---	---
PKD1L1	168507	broad.mit.edu	37	7	47925401	47925401	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:47925401delC	ENST00000289672.2	-	18	3138	c.3088delG	c.(3088-3090)gagfs	p.E1030fs		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1030	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TCTGGAGCCTCCCCCAGGACT	0.622																																						uc003tny.1		NA																	0				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						c.(3088-3090)GAGfs		polycystin-1L1							69.0	78.0	75.0					7																	47925401		2203	4300	6503	SO:0001589	frameshift_variant	168507				cell-cell adhesion	integral to membrane		g.chr7:47925401delC	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.3088delG	7.37:g.47925401delC	ENSP00000289672:p.Glu1030fs						p.E1030fs	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			18	3088	-			1030			Extracellular (Potential).|REJ.		Q6UWK1	Frame_Shift_Del	DEL	ENST00000289672.2	37	c.3088delG	CCDS34633.1																																																																																				0.622	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		7	191	NA	NA	NA	NA	7	191	---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48311506	48311506	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:48311506delT	ENST00000435803.1	+	17	2267	c.2243delT	c.(2242-2244)cttfs	p.L748fs		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	748					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTGCCTAATCTTTTTGACTCC	0.348																																						uc003toq.2		NA																	0				ovary(5)|central_nervous_system(4)|skin(1)	10						c.(2242-2244)CTTfs		ATP binding cassette, sub-family A (ABC1),							67.0	63.0	64.0					7																	48311506		1819	4074	5893	SO:0001589	frameshift_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48311506delT	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.2243delT	7.37:g.48311506delT	ENSP00000411096:p.Leu748fs					ABCA13_uc010kyr.2_Frame_Shift_Del_p.L251fs	p.L748fs	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			17	2268	+			748					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Frame_Shift_Del	DEL	ENST00000435803.1	37	c.2243delT	CCDS47584.1																																																																																				0.348	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		12	67	NA	NA	NA	NA	12	67	---	---	---	---
CYP51A1	1595	broad.mit.edu	37	7	91752493	91752494	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:91752493_91752494insT	ENST00000003100.8	-	7	1191_1192	c.1026_1027insA	c.(1024-1029)aaatgtfs	p.C343fs	LRRD1_ENST00000422722.1_5'UTR|CYP51A1_ENST00000450723.1_Frame_Shift_Ins_p.C238fs	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A, polypeptide 1	337					cholesterol biosynthetic process (GO:0006695)|cholesterol biosynthetic process via 24,25-dihydrolanosterol (GO:0033488)|demethylation (GO:0070988)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|sterol 14-demethylase activity (GO:0008398)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Itraconazole(DB01167)|Ketoconazole(DB01026)|Sertaconazole(DB01153)|Tioconazole(DB01007)	TCTAAATAACATTTTTTTTGAA	0.396																																					GBM(70;1100 1190 11592 25836 51397)	uc003ulm.3		NA																	0					0						c.(1024-1029)AAATGTfs		cytochrome P450, family 51, subfamily A,	Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)		,	0,4264		0,0,2132					,	5.6	1.0			121	1,8253		0,1,4126	no	frameshift,frameshift	CYP51A1	NM_001146152.1,NM_000786.3	,	0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080	,	,		1,12517				SO:0001589	frameshift_variant	1595				cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity	g.chr7:91752493_91752494insT	U51685	CCDS5623.1, CCDS55123.1	7q21.2	2012-10-10	2003-02-14	2003-02-28	ENSG00000001630	ENSG00000001630		"""Cytochrome P450s"""	2649	protein-coding gene	gene with protein product		601637	"""cytochrome P450, 51 (lanosterol 14-alpha-demethylase)"""	CYP51		8975714	Standard	NM_000786		Approved	CP51, CYPL1, P450L1, LDM, P450-14DM	uc003ulm.4	Q16850	OTTHUMG00000131131	ENST00000003100.8:c.1027dupA	7.37:g.91752501_91752501dupT	ENSP00000003100:p.Cys343fs					CYP51A1_uc011khn.1_Frame_Shift_Ins_p.K237fs|CYP51A1_uc003uln.3_Frame_Shift_Ins_p.K279fs	p.K342fs	NM_000786	NP_000777	Q16850	CP51A_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		7	1188_1189	-	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		336_337					A4D1F8|B2RAI4|B4DJ55|O00770|O00772|Q16784|Q8N1A8|Q99868	Frame_Shift_Ins	INS	ENST00000003100.8	37	c.1026_1027insA	CCDS5623.1																																																																																				0.396	CYP51A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253812.4			22	275	NA	NA	NA	NA	22	275	---	---	---	---
RP1L1	94137	broad.mit.edu	37	8	10470757	10470757	+	Frame_Shift_Del	DEL	G	G	-	rs74594406	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:10470757delG	ENST00000382483.3	-	4	1074	c.851delC	c.(850-852)ccgfs	p.P284fs		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	284					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AGGGCCCACCGGGGGGTTGCT	0.662																																						uc003wtc.2		NA																	0				ovary(4)|breast(3)|central_nervous_system(1)	8						c.(850-852)CCGfs		retinitis pigmentosa 1-like 1							57.0	63.0	61.0					8																	10470757		1951	4139	6090	SO:0001589	frameshift_variant	94137				intracellular signal transduction			g.chr8:10470757delG	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.851delC	8.37:g.10470757delG	ENSP00000371923:p.Pro284fs						p.P284fs	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	1080	-			284					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Frame_Shift_Del	DEL	ENST00000382483.3	37	c.851delC	CCDS43708.1																																																																																				0.662	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			15	201	NA	NA	NA	NA	15	201	---	---	---	---
KAT6A	7994	broad.mit.edu	37	8	41798569	41798569	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:41798569delC	ENST00000396930.3	-	16	3373	c.2830delG	c.(2830-2832)gttfs	p.V944fs	KAT6A_ENST00000406337.1_Frame_Shift_Del_p.V944fs|KAT6A_ENST00000265713.2_Frame_Shift_Del_p.V944fs	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	944					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										CAGGGCTCAACCCCCTCACTG	0.552																																						uc010lxb.2		NA																	0				ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(2830-2832)GTTfs		MYST histone acetyltransferase (monocytic							118.0	113.0	115.0					8																	41798569		2203	4300	6503	SO:0001589	frameshift_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41798569delC	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.2830delG	8.37:g.41798569delC	ENSP00000380136:p.Val944fs					MYST3_uc010lxc.2_Frame_Shift_Del_p.V944fs|MYST3_uc003xon.3_Frame_Shift_Del_p.V944fs	p.V944fs	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)		16	3374	-	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	944					Q76L81	Frame_Shift_Del	DEL	ENST00000396930.3	37	c.2830delG	CCDS6124.1																																																																																				0.552	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		17	326	NA	NA	NA	NA	17	326	---	---	---	---
TMEM68	137695	broad.mit.edu	37	8	56668944	56668944	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:56668944delT	ENST00000434581.2	-	4	551	c.352delA	c.(352-354)atafs	p.I118fs	TMEM68_ENST00000523073.1_Frame_Shift_Del_p.I4fs|TMEM68_ENST00000519784.1_Frame_Shift_Del_p.I4fs|TMEM68_ENST00000334667.2_Frame_Shift_Del_p.I118fs			Q96MH6	TMM68_HUMAN	transmembrane protein 68	118						integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups (GO:0016746)			NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6			Epithelial(17;0.000361)|all cancers(17;0.00326)			TCTTCTGGTATTTTTTCCATT	0.299																																						uc003xsg.1		NA																	0				skin(1)	1						c.(352-354)ATAfs		transmembrane protein 68							71.0	76.0	75.0					8																	56668944		2200	4297	6497	SO:0001589	frameshift_variant	137695					integral to membrane	acyltransferase activity	g.chr8:56668944delT	AK056932	CCDS6161.1, CCDS75740.1, CCDS75741.1, CCDS75742.1	8q12.1	2011-12-12			ENSG00000167904	ENSG00000167904			26510	protein-coding gene	gene with protein product						12477932	Standard	XM_005251150		Approved	FLJ32370	uc003xsh.1	Q96MH6	OTTHUMG00000164293	ENST00000434581.2:c.352delA	8.37:g.56668944delT	ENSP00000395204:p.Ile118fs					TMEM68_uc003xsh.1_Frame_Shift_Del_p.I118fs	p.I118fs	NM_152417	NP_689630	Q96MH6	TMM68_HUMAN	Epithelial(17;0.000361)|all cancers(17;0.00326)		2	421	-			118					Q658X6|Q8WUD2	Frame_Shift_Del	DEL	ENST00000434581.2	37	c.352delA																																																																																					0.299	TMEM68-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000378137.1	NM_152417		9	155	NA	NA	NA	NA	9	155	---	---	---	---
PPP1R42	286187	broad.mit.edu	37	8	67926714	67926715	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:67926714_67926715insT	ENST00000324682.5	-	3	386_387	c.242_243insA	c.(241-243)aacfs	p.N81fs	PPP1R42_ENST00000522909.1_Frame_Shift_Ins_p.N81fs|PPP1R42_ENST00000517834.1_Intron	NM_001013626.2	NP_001013648.1	Q7Z4L9	PPR42_HUMAN	protein phosphatase 1, regulatory subunit 42	81					regulation of phosphatase activity (GO:0010921)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|manchette (GO:0002177)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)	actin binding (GO:0003779)|dynein binding (GO:0045502)|tubulin binding (GO:0015631)										AAATACAATTGTTTTGTAGGTA	0.272																																						uc003xxc.2		NA																	0					0						c.(241-243)AACfs		leucine rich repeat containing 67																																				SO:0001589	frameshift_variant	286187							g.chr8:67926714_67926715insT	BC055413	CCDS34902.1	8q13.1-q13.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000178125	ENSG00000178125		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	33732	protein-coding gene	gene with protein product	"""testis leucine-rich repeat"""		"""leucine rich repeat containing 67"""	LRRC67			Standard	NM_001013626		Approved	dtr, TLLR	uc003xxc.3	Q7Z4L9	OTTHUMG00000164745	ENST00000324682.5:c.243dupA	8.37:g.67926718_67926718dupT	ENSP00000315035:p.Asn81fs						p.N81fs	NM_001013626	NP_001013648	Q7Z4L9	LRC67_HUMAN			3	387_388	-			81			LRR 3.			Frame_Shift_Ins	INS	ENST00000324682.5	37	c.242_243insA	CCDS34902.1																																																																																				0.272	PPP1R42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380034.2	NM_001013626		11	231	NA	NA	NA	NA	11	231	---	---	---	---
SLC26A7	115111	broad.mit.edu	37	8	92352747	92352747	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:92352747delA	ENST00000276609.3	+	8	1233	c.994delA	c.(994-996)aaafs	p.K333fs	SLC26A7_ENST00000523719.1_Frame_Shift_Del_p.K333fs|SLC26A7_ENST00000309536.2_Frame_Shift_Del_p.K333fs	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7									p.K333fs*20(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			AGGATCTGCCAAAAAATTCAA	0.502																																						uc003yex.2		NA																	1	Deletion - Frameshift(1)		large_intestine(1)	ovary(2)	2						c.(994-996)AAAfs		solute carrier family 26, member 7 isoform a							97.0	90.0	92.0					8																	92352747		2203	4300	6503	SO:0001589	frameshift_variant	115111					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	g.chr8:92352747delA	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.994delA	8.37:g.92352747delA	ENSP00000276609:p.Lys333fs					SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Frame_Shift_Del_p.K332fs|SLC26A7_uc003yfa.2_Frame_Shift_Del_p.K332fs	p.K332fs	NM_052832	NP_439897	Q8TE54	S26A7_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00802)		9	1272	+			332			Extracellular (Potential).			Frame_Shift_Del	DEL	ENST00000276609.3	37	c.994delA	CCDS6254.1																																																																																				0.502	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1			10	166	NA	NA	NA	NA	10	166	---	---	---	---
ASMTL	8623	broad.mit.edu	37	X	1546793	1546793	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:1546793delC	ENST00000381317.3	-	7	763	c.731delG	c.(730-732)ggcfs	p.G245fs	ASMTL_ENST00000463763.1_5'UTR|ASMTL_ENST00000534940.1_Frame_Shift_Del_p.G187fs|ASMTL_ENST00000381333.4_Frame_Shift_Del_p.G229fs|ASMTL_ENST00000416733.2_Frame_Shift_Del_p.G169fs	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	245						cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTCCGAGCCGCCCCCCTCCAC	0.697																																						uc004cpx.1		NA																	0					0						c.(730-732)GGCfs		acetylserotonin O-methyltransferase-like							48.0	63.0	58.0					X																	1546793		2025	4139	6164	SO:0001589	frameshift_variant	8623				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity	g.chrX:1546793delC	Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"""Pseudoautosomal regions / PAR1"""	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	ENST00000381317.3:c.731delG	X.37:g.1546793delC	ENSP00000370718:p.Gly245fs					ASMTL_uc011mhe.1_Frame_Shift_Del_p.G168fs|ASMTL_uc004cpy.1_Frame_Shift_Del_p.G228fs|ASMTL_uc011mhf.1_Frame_Shift_Del_p.G186fs	p.G244fs	NM_004192	NP_004183	O95671	ASML_HUMAN			7	842	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	244					B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	Frame_Shift_Del	DEL	ENST00000381317.3	37	c.731delG	CCDS43917.1																																																																																				0.697	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055595.1	NM_004192		12	124	NA	NA	NA	NA	12	124	---	---	---	---
DMD	1756	broad.mit.edu	37	X	32862971	32862972	+	In_Frame_Ins	INS	-	-	TTT			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:32862971_32862972insTTT	ENST00000357033.4	-	4	398_399	c.192_193insAAA	c.(190-195)aaagaa>aaaAAAgaa	p.64_65insK	DMD_ENST00000378677.2_In_Frame_Ins_p.60_61insK|DMD_ENST00000288447.4_In_Frame_Ins_p.56_57insK	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	64	ANK2- and ANK-3 binding. {ECO:0000250}.|Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GATCCTTTTTCTTTTGGCTGAG	0.396																																						uc004dda.1		NA																	0				ovary(3)|pancreas(2)|large_intestine(1)	6	GRCh37	CD071332|CM022943	DMD	D|M		c.(190-195)insAAA		dystrophin Dp427m isoform																																				SO:0001652	inframe_insertion	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32862971_32862972insTTT	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.190_192dupAAA	X.37:g.32862972_32862974dupTTT	ENSP00000354923:p.Lys65_Lys66dup					DMD_uc004dcz.2_5'UTR|DMD_uc004dcy.1_In_Frame_Ins_p.60_61insK|DMD_uc004ddb.1_In_Frame_Ins_p.56_57insK|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_In_Frame_Ins_p.56_57insK|DMD_uc010ngq.1_RNA|DMD_uc010ngr.1_Intron	p.64_65insK	NM_004006	NP_003997	P11532	DMD_HUMAN			4	436_437	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	64_65			CH 1.|Actin-binding.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	In_Frame_Ins	INS	ENST00000357033.4	37	c.192_193insAAA	CCDS14233.1																																																																																				0.396	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		8	112	NA	NA	NA	NA	8	112	---	---	---	---
FOXR2	139628	broad.mit.edu	37	X	55650821	55650822	+	Frame_Shift_Ins	INS	-	-	C	rs368304758		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:55650821_55650822insC	ENST00000339140.3	+	1	989_990	c.677_678insC	c.(676-681)ttccccfs	p.FP226fs		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	226					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						CGACAGCATTTCCCCTTTTTCT	0.51																																						uc004duo.2		NA																	0				lung(2)|central_nervous_system(1)	3						c.(676-678)TTCfs		forkhead box R2																																				SO:0001589	frameshift_variant	139628				embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chrX:55650821_55650822insC	BC012934	CCDS35308.1	Xp11	2006-12-15			ENSG00000189299	ENSG00000189299		"""Forkhead boxes"""	30469	protein-coding gene	gene with protein product						15202009, 15202027	Standard	NM_198451		Approved	MGC21658, FOXN6	uc004duo.3	Q6PJQ5	OTTHUMG00000021661	ENST00000339140.3:c.681dupC	X.37:g.55650825_55650825dupC	ENSP00000427329:p.Phe226fs						p.F226fs	NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN			1	989_990	+			226			Fork-head.			Frame_Shift_Ins	INS	ENST00000339140.3	37	c.677_678insC	CCDS35308.1																																																																																				0.510	FOXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056877.2	NM_198451		13	195	NA	NA	NA	NA	13	195	---	---	---	---
PCDH11X	27328	broad.mit.edu	37	X	91134260	91134261	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:91134260_91134261delAC	ENST00000373094.1	+	2	3866_3867	c.3021_3022delAC	c.(3019-3024)gtacacfs	p.H1008fs	PCDH11X_ENST00000361655.2_Frame_Shift_Del_p.H1008fs|PCDH11X_ENST00000504220.2_Frame_Shift_Del_p.H1008fs|PCDH11X_ENST00000361724.1_Frame_Shift_Del_p.H1008fs|PCDH11X_ENST00000406881.1_Frame_Shift_Del_p.H1008fs|PCDH11X_ENST00000373088.1_Frame_Shift_Del_p.H1008fs|PCDH11X_ENST00000298274.8_Frame_Shift_Del_p.H1008fs|PCDH11X_ENST00000395337.2_Frame_Shift_Del_p.H1008fs|PCDH11X_ENST00000373097.1_Frame_Shift_Del_p.H1008fs	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1008					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTGTGTCCGTACACACCAGACC	0.406																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1		NA																	0				large_intestine(2)	2						c.(3019-3024)GTACACfs		protocadherin 11 X-linked isoform c																																				SO:0001589	frameshift_variant	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91134260_91134261delAC	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3021_3022delAC	X.37:g.91134264_91134265delAC	ENSP00000362186:p.His1008fs					PCDH11X_uc004efl.1_Frame_Shift_Del_p.V1007fs|PCDH11X_uc004efo.1_Frame_Shift_Del_p.V1007fs|PCDH11X_uc010nmv.1_Frame_Shift_Del_p.V1007fs|PCDH11X_uc004efm.1_Frame_Shift_Del_p.V1007fs|PCDH11X_uc004efn.1_Frame_Shift_Del_p.V1007fs|PCDH11X_uc004efh.1_Frame_Shift_Del_p.V1007fs|PCDH11X_uc004efj.1_Frame_Shift_Del_p.V1007fs	p.V1007fs	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			2	3866_3867	+			1007_1008			Cytoplasmic (Potential).		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Frame_Shift_Del	DEL	ENST00000373094.1	37	c.3021_3022delAC	CCDS14461.1																																																																																				0.406	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		25	320	NA	NA	NA	NA	25	320	---	---	---	---
RNF128	79589	broad.mit.edu	37	X	106016281	106016281	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:106016281delT	ENST00000255499.2	+	2	873	c.623delT	c.(622-624)attfs	p.I208fs	RNF128_ENST00000324342.3_Frame_Shift_Del_p.I182fs	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	208					negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						CACTATTCAATTTTTTTCGTT	0.388																																						uc004eml.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(622-624)ATTfs		ring finger protein 128 isoform 1							207.0	166.0	180.0					X																	106016281		2203	4300	6503	SO:0001589	frameshift_variant	79589					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding	g.chrX:106016281delT	AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"""RING-type (C3HC4) zinc fingers"""	21153	protein-coding gene	gene with protein product		300439	"""ring finger protein 128"""				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000255499.2:c.623delT	X.37:g.106016281delT	ENSP00000255499:p.Ile208fs					RNF128_uc004emk.2_Frame_Shift_Del_p.I182fs	p.I208fs	NM_194463	NP_919445	Q8TEB7	RN128_HUMAN			2	873	+			208			Helical; (Potential).		A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Frame_Shift_Del	DEL	ENST00000255499.2	37	c.623delT	CCDS14521.1																																																																																				0.388	RNF128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057804.1	NM_024539		23	256	NA	NA	NA	NA	23	256	---	---	---	---
TEX13B	56156	broad.mit.edu	37	X	107224932	107224933	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:107224932_107224933delCT	ENST00000302917.1	-	2	517_518	c.425_426delAG	c.(424-426)gagfs	p.E142fs		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	142										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						GCATGTCCCGCTCTCTCTGCAC	0.589																																						uc004enn.1		NA																	0				ovary(1)	1						c.(424-426)GAGfs		testis expressed 13B																																				SO:0001589	frameshift_variant	56156							g.chrX:107224932_107224933delCT	AF285598	CCDS14534.1	Xq23	2008-02-05	2007-03-13		ENSG00000170925	ENSG00000170925			11736	protein-coding gene	gene with protein product		300313	"""testis expressed sequence 13B"""			11279525	Standard	NM_031273		Approved	TSGA5, TGC3B	uc004enn.1	Q9BXU2	OTTHUMG00000022174	ENST00000302917.1:c.425_426delAG	X.37:g.107224938_107224939delCT	ENSP00000303777:p.Glu142fs						p.E142fs	NM_031273	NP_112563	Q9BXU2	TX13B_HUMAN			2	518_519	-			142					Q5JYF6	Frame_Shift_Del	DEL	ENST00000302917.1	37	c.425_426delAG	CCDS14534.1																																																																																				0.589	TEX13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057857.1			7	175	NA	NA	NA	NA	7	175	---	---	---	---
TENM1	10178	broad.mit.edu	37	X	124029940	124029941	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:124029940_124029941insT	ENST00000371130.3	-	2	430_431	c.367_368insA	c.(367-369)atgfs	p.M123fs	TENM1_ENST00000422452.2_Frame_Shift_Ins_p.M123fs	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	123	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CCTTATCCACATTCTTAGTGCA	0.495																																						uc004euj.2		NA																	0				ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(367-369)ATGfs		odz, odd Oz/ten-m homolog 1 isoform 3																																				SO:0001589	frameshift_variant	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:124029940_124029941insT	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.368dupA	X.37:g.124029942_124029942dupT	ENSP00000360171:p.Met123fs					ODZ1_uc011muj.1_Frame_Shift_Ins_p.M123fs|ODZ1_uc010nqy.2_Frame_Shift_Ins_p.M123fs	p.M123fs	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			2	431_432	-			123			Teneurin N-terminal.|Cytoplasmic (Potential).		B2RTR5|Q5JZ17	Frame_Shift_Ins	INS	ENST00000371130.3	37	c.367_368insA	CCDS14609.1																																																																																				0.495	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		44	594	NA	NA	NA	NA	44	594	---	---	---	---
SRPK3	26576	broad.mit.edu	37	X	153049647	153049647	+	Frame_Shift_Del	DEL	G	G	-	rs369594696		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:153049647delG	ENST00000370101.3	+	10	1172	c.1126delG	c.(1126-1128)gggfs	p.G377fs	SRPK3_ENST00000370104.1_Frame_Shift_Del_p.G376fs|SRPK3_ENST00000370108.3_Frame_Shift_Del_p.G344fs|IDH3G_ENST00000497043.1_5'Flank|SRPK3_ENST00000489426.1_Frame_Shift_Del_p.G444fs|SRPK3_ENST00000393786.3_Frame_Shift_Del_p.G343fs|SRPK3_ENST00000370100.1_Frame_Shift_Del_p.G302fs	NM_001170760.1|NM_014370.3	NP_001164231.1|NP_055185.2	Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	377	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|muscle tissue development (GO:0060537)|skeletal muscle tissue development (GO:0007519)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GCGAGAGACCGGGGGCCTCCT	0.642																																					Esophageal Squamous(167;766 3400 32156)	uc004fil.2		NA																	0				pancreas(2)|lung(1)	3						c.(1126-1128)GGGfs		serine arginine rich protein-specific kinase 3							41.0	39.0	40.0					X																	153049647		2203	4300	6503	SO:0001589	frameshift_variant	26576				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity	g.chrX:153049647delG	AF027406	CCDS35441.1, CCDS55537.1, CCDS55538.1	Xq28	2010-06-23	2010-06-23	2006-08-17	ENSG00000184343	ENSG00000184343			11402	protein-coding gene	gene with protein product			"""serine/threonine kinase 23"", ""SFRS protein kinase 3"""	STK23		16140986	Standard	NM_014370		Approved	MSSK1	uc004fil.3	Q9UPE1	OTTHUMG00000024207	ENST00000370101.3:c.1126delG	X.37:g.153049647delG	ENSP00000359119:p.Gly377fs					SRPK3_uc004fik.2_Frame_Shift_Del_p.G442fs|SRPK3_uc010nul.2_Frame_Shift_Del_p.G300fs|SRPK3_uc004fin.2_Frame_Shift_Del_p.G375fs|SRPK3_uc004fim.2_Frame_Shift_Del_p.G342fs	p.G376fs	NM_014370	NP_055185	Q9UPE1	SRPK3_HUMAN			10	1158	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		376			Protein kinase.		Q13583|Q4F970|Q562F5|Q9UM62	Frame_Shift_Del	DEL	ENST00000370101.3	37	c.1126delG	CCDS35441.1																																																																																				0.642	SRPK3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354501.1	NM_014370		15	150	NA	NA	NA	NA	15	150	---	---	---	---
