#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
ACTRT2	140625	broad.mit.edu	37	1	2938694	2938694	+	Silent	SNP	C	C	T	rs17845890		TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:2938694C>T	ENST00000378404.2	+	1	649	c.444C>T	c.(442-444)gcC>gcT	p.A148A		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	148						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CTCTCTACGCCTCTGCCTGTG	0.622																																						uc001ajz.2		NA																	0					0						c.(442-444)GCC>GCT		actin-related protein M2							64.0	59.0	60.0					1																	2938694		2203	4300	6503	SO:0001819	synonymous_variant	140625					cytoplasm|cytoskeleton		g.chr1:2938694C>T	AF440740, AB057364	CCDS45.1	1p36.3	2008-02-05	2005-11-22		ENSG00000169717	ENSG00000169717			24026	protein-coding gene	gene with protein product		608535				11750065, 12243744	Standard	NM_080431		Approved	Arp-T2, ARPM2, FLJ25424	uc001ajz.3	Q8TDY3	OTTHUMG00000000562	ENST00000378404.2:c.444C>T	1.37:g.2938694C>T							p.A148A	NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)	1	649	+	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	148					B1AN52|Q8NHS6|Q8TDG1	Silent	SNP	ENST00000378404.2	37	c.444C>T	CCDS45.1																																																																																				0.622	ACTRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001331.1	NM_080431		20	87	0	0	0	0	20	87				
AJAP1	55966	broad.mit.edu	37	1	4715487	4715487	+	Start_Codon_SNP	SNP	T	T	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:4715487T>C	ENST00000378191.4	+	1	383	c.2T>C	c.(1-3)aTg>aCg	p.M1T	AJAP1_ENST00000378190.3_Start_Codon_SNP_p.M1T	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	1					cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		AACGTGACCATGTGGATTCAA	0.731																																						uc001alm.1		NA																	0				lung(1)	1						c.(1-3)ATG>ACG		adherens junction associated protein 1							38.0	43.0	41.0					1																	4715487		2202	4295	6497	SO:0001582	initiator_codon_variant	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4715487T>C	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"""transmembrane protein SHREW1"""	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.2T>C	1.37:g.4715487T>C	ENSP00000367433:p.Met1Thr					AJAP1_uc001aln.2_Missense_Mutation_p.M1T	p.M1T	NM_001042478	NP_001035943	Q9UKB5	AJAP1_HUMAN		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)	1	383	+	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)	1			Extracellular (Potential).		Q9Y229	Missense_Mutation	SNP	ENST00000378191.4	37	c.2T>C	CCDS54.1	.	.	.	.	.	.	.	.	.	.	T	7.886	0.731284	0.15507	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.48836	0.8;0.8	2.92	1.76	0.24704	.	0.369168	0.21986	N	0.066223	T	0.32376	0.0827	.	.	.	0.30359	N	0.783977	B	0.19817	0.039	B	0.11329	0.006	T	0.25467	-1.0131	9	0.87932	D	0	-0.6745	4.6343	0.12516	0.0:0.162:0.0:0.838	.	1	Q9UKB5	AJAP1_HUMAN	T	1	ENSP00000367432:M1T;ENSP00000367433:M1T	ENSP00000367432:M1T	M	+	2	0	AJAP1	4615347	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.098000	0.41757	0.233000	0.21120	0.260000	0.18958	ATG		0.731	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836	Missense_Mutation	20	69	0	0	0	0	20	69				
CROCC	9696	broad.mit.edu	37	1	17263291	17263291	+	Silent	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:17263291G>A	ENST00000375541.5	+	9	1185	c.1116G>A	c.(1114-1116)cgG>cgA	p.R372R	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		AGCAGCTGCGGGACAAGGTGC	0.677																																						uc001azt.2		NA																	0				ovary(2)|breast(2)|central_nervous_system(1)	5						c.(1114-1116)CGG>CGA		ciliary rootlet coiled-coil							38.0	34.0	36.0					1																	17263291		2201	4298	6499	SO:0001819	synonymous_variant	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17263291G>A	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.1116G>A	1.37:g.17263291G>A						CROCC_uc009voy.1_Silent_p.R75R|CROCC_uc009voz.1_Silent_p.R135R	p.R372R	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	9	1185	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	372			Potential.			Silent	SNP	ENST00000375541.5	37	c.1116G>A	CCDS30616.1																																																																																				0.677	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		12	54	0	0	0	0	12	54				
EPHA10	284656	broad.mit.edu	37	1	38227191	38227191	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:38227191C>T	ENST00000373048.4	-	3	735	c.736G>A	c.(736-738)Ggg>Agg	p.G246R	EPHA10_ENST00000427468.2_Missense_Mutation_p.G246R|EPHA10_ENST00000319637.6_Missense_Mutation_p.G246R	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	246					ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCAGGCTCCCCTTCCGAGTGC	0.731																																						uc009vvi.2		NA																	0				breast(4)|stomach(3)|lung(1)	8						c.(736-738)GGG>AGG		EPH receptor A10 isofom 3							18.0	20.0	19.0					1																	38227191		2190	4263	6453	SO:0001583	missense	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38227191C>T	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.736G>A	1.37:g.38227191C>T	ENSP00000362139:p.Gly246Arg					EPHA10_uc001cbw.3_Missense_Mutation_p.G246R	p.G246R	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN			3	822	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	246			Extracellular (Potential).		A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	c.736G>A	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.313811	0.81358	.	.	ENSG00000183317	ENST00000427468;ENST00000373048;ENST00000319637	T;T;T	0.75260	-0.92;-0.91;4.5	4.4	4.4	0.53042	.	0.000000	0.42548	D	0.000694	T	0.69815	0.3153	L	0.31664	0.95	0.80722	D	1	D;P	0.56035	0.974;0.868	P;P	0.50825	0.497;0.651	T	0.72740	-0.4202	10	0.59425	D	0.04	.	11.6986	0.51558	0.1769:0.8231:0.0:0.0	.	246;246	Q5JZY3;Q5JZY3-2	EPHAA_HUMAN;.	R	246	ENSP00000397746:G246R;ENSP00000362139:G246R;ENSP00000316395:G246R	ENSP00000316395:G246R	G	-	1	0	EPHA10	37999778	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.609000	0.67661	2.411000	0.81874	0.551000	0.68910	GGG		0.731	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		25	27	0	0	0	0	25	27				
RLF	6018	broad.mit.edu	37	1	40702667	40702667	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:40702667A>G	ENST00000372771.4	+	8	2320	c.2293A>G	c.(2293-2295)Aag>Gag	p.K765E		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	765					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			CCATAAACAAAAGCATGACGA	0.393																																						uc001cfc.3		NA																	0				ovary(2)|pancreas(1)	3						c.(2293-2295)AAG>GAG		rearranged L-myc fusion							140.0	134.0	136.0					1																	40702667		2203	4300	6503	SO:0001583	missense	6018				chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr1:40702667A>G		CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.2293A>G	1.37:g.40702667A>G	ENSP00000361857:p.Lys765Glu					RLF_uc001cfd.3_Missense_Mutation_p.K456E	p.K765E	NM_012421	NP_036553	Q13129	RLF_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)		8	2324	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	765			C2H2-type 4.		Q14CQ1|Q9NU60	Missense_Mutation	SNP	ENST00000372771.4	37	c.2293A>G	CCDS448.1	.	.	.	.	.	.	.	.	.	.	A	0.147	-1.096082	0.01843	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.35605	1.3	6.17	6.17	0.99709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.186100	0.56097	D	0.000027	T	0.24160	0.0585	L	0.45051	1.395	0.26425	N	0.976033	B;B	0.31581	0.02;0.329	B;B	0.28849	0.03;0.095	T	0.32851	-0.9891	10	0.02654	T	1	-20.3473	8.4706	0.32982	0.7351:0.1354:0.0:0.1295	.	458;765	F5H2M5;Q13129	.;RLF_HUMAN	E	765;458	ENSP00000361857:K765E	ENSP00000361857:K765E	K	+	1	0	RLF	40475254	0.052000	0.20516	1.000000	0.80357	0.981000	0.71138	2.098000	0.41757	2.371000	0.80710	0.533000	0.62120	AAG		0.393	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421		46	194	0	0	0	0	46	194				
C1orf123	54987	broad.mit.edu	37	1	53683848	53683848	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:53683848T>A	ENST00000294360.4	-	5	298	c.257A>T	c.(256-258)tAc>tTc	p.Y86F	RP5-1024G6.7_ENST00000569869.1_RNA|C1orf123_ENST00000470385.1_5'UTR	NM_017887.1	NP_060357.1	Q9NWV4	CA123_HUMAN	chromosome 1 open reading frame 123	86						extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|pancreas(2)|skin(1)	6						ACTTACATTGTAAGGCTTGAT	0.488																																						uc001cvd.2		NA																	0				pancreas(2)	2						c.(256-258)TAC>TTC		hypothetical protein LOC54987							61.0	55.0	57.0					1																	53683848		2203	4300	6503	SO:0001583	missense	54987							g.chr1:53683848T>A	BC010908	CCDS576.1	1p32.3	2011-02-18			ENSG00000162384	ENSG00000162384			26059	protein-coding gene	gene with protein product						12477932	Standard	NM_017887		Approved	FLJ20580	uc001cvd.3	Q9NWV4	OTTHUMG00000008940	ENST00000294360.4:c.257A>T	1.37:g.53683848T>A	ENSP00000294360:p.Tyr86Phe					C1orf123_uc001cvc.2_Missense_Mutation_p.Y24F|C1orf123_uc001cve.2_Missense_Mutation_p.Y67F	p.Y86F	NM_017887	NP_060357	Q9NWV4	CA123_HUMAN			5	299	-			86						Missense_Mutation	SNP	ENST00000294360.4	37	c.257A>T	CCDS576.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.242594	0.79912	.	.	ENSG00000162384	ENST00000294360;ENST00000371480	.	.	.	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.79417	0.4442	M	0.82517	2.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.80876	-0.1186	9	0.45353	T	0.12	-17.5688	13.4534	0.61184	0.0:0.0:0.0:1.0	.	56;86	D3DQ38;Q9NWV4	.;CA123_HUMAN	F	86;67	.	ENSP00000294360:Y86F	Y	-	2	0	C1orf123	53456436	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.146000	0.71777	2.102000	0.63906	0.533000	0.62120	TAC		0.488	C1orf123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024751.1	NM_017887		6	32	0	0	0	0	6	32				
MROH7	374977	broad.mit.edu	37	1	55144987	55144987	+	Missense_Mutation	SNP	G	G	T	rs554316180		TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:55144987G>T	ENST00000421030.2	+	12	2386	c.2101G>T	c.(2101-2103)Gcc>Tcc	p.A701S	MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.A701S|MROH7_ENST00000454855.2_Missense_Mutation_p.A219S|MROH7_ENST00000395690.2_Missense_Mutation_p.A701S|MROH7_ENST00000409996.1_Missense_Mutation_p.A269S|MROH7_ENST00000545244.1_Missense_Mutation_p.A269S|MROH7_ENST00000339553.5_Missense_Mutation_p.A701S	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	701						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											GCTGCTGGCCGCCCTGGAAGG	0.592																																						uc010ooe.1		NA																	0					0						c.(2101-2103)GCC>TCC		hypothetical protein LOC374977							71.0	78.0	76.0					1																	55144987		1921	4127	6048	SO:0001583	missense	374977					integral to membrane	binding	g.chr1:55144987G>T	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.2101G>T	1.37:g.55144987G>T	ENSP00000396622:p.Ala701Ser					C1orf175_uc001cxq.2_RNA|C1orf175_uc010ooc.1_Missense_Mutation_p.A269S|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Missense_Mutation_p.A219S|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Missense_Mutation_p.A701S|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA	p.A701S	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN			12	2425	+			701					A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP	ENST00000421030.2	37	c.2101G>T	CCDS41342.2	.	.	.	.	.	.	.	.	.	.	G	16.59	3.164914	0.57476	.	.	ENSG00000184313	ENST00000421030;ENST00000545244;ENST00000414867;ENST00000339553;ENST00000409996;ENST00000454855;ENST00000395690	T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41	4.88	3.95	0.45737	.	0.000000	0.47093	D	0.000243	T	0.37785	0.1016	L	0.39397	1.21	0.31324	N	0.685646	P;D;P	0.71674	0.946;0.998;0.863	P;P;B	0.60949	0.751;0.881;0.374	T	0.35276	-0.9795	10	0.52906	T	0.07	-6.3043	8.1381	0.31067	0.1075:0.0:0.8925:0.0	.	701;701;269	F8W8P2;Q68CQ1;F5H7R4	.;HEAT8_HUMAN;.	S	701;269;730;701;269;219;701	ENSP00000396622:A701S;ENSP00000442333:A269S;ENSP00000343211:A701S;ENSP00000387048:A269S;ENSP00000401130:A219S;ENSP00000379044:A701S	ENSP00000343211:A701S	A	+	1	0	HEATR8	54917575	0.974000	0.33945	0.992000	0.48379	0.751000	0.42716	2.215000	0.42862	2.250000	0.74265	0.557000	0.71058	GCC		0.592	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		39	197	1	0	6.24e-21	8.4e-21	39	197				
LRRC7	57554	broad.mit.edu	37	1	70555457	70555457	+	Silent	SNP	T	T	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:70555457T>C	ENST00000035383.5	+	23	4416	c.4386T>C	c.(4384-4386)agT>agC	p.S1462S	LRRC7_ENST00000310961.5_Silent_p.S1420S|LRRC7_ENST00000415775.2_Silent_p.S746S	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1462	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TTAGTATCAGTGGTGGAATTA	0.299																																						uc001dep.2		NA																	0				ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(4384-4386)AGT>AGC		leucine rich repeat containing 7							99.0	102.0	101.0					1																	70555457		2203	4299	6502	SO:0001819	synonymous_variant	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70555457T>C		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.4386T>C	1.37:g.70555457T>C						LRRC7_uc009wbg.2_Silent_p.S746S|LRRC7_uc001deq.2_Silent_p.S656S	p.S1462S	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			23	4416	+			1462			PDZ.		Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP	ENST00000035383.5	37	c.4386T>C	CCDS645.1																																																																																				0.299	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		26	139	0	0	0	0	26	139				
CRYZ	1429	broad.mit.edu	37	1	75172657	75172657	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:75172657T>A	ENST00000340866.5	-	8	841	c.754A>T	c.(754-756)Att>Ttt	p.I252F	CRYZ_ENST00000370871.3_Missense_Mutation_p.I218F|CRYZ_ENST00000370872.3_Missense_Mutation_p.I115F|CRYZ_ENST00000417775.1_Missense_Mutation_p.I252F|CRYZ_ENST00000492102.1_5'UTR	NM_001889.3	NP_001880.2	Q08257	QOR_HUMAN	crystallin, zeta (quinone reductase)	252					protein homotetramerization (GO:0051289)|visual perception (GO:0007601)|xenobiotic catabolic process (GO:0042178)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	mRNA 3'-UTR binding (GO:0003730)|NADPH binding (GO:0070402)|NADPH:quinone reductase activity (GO:0003960)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)	10					Dicoumarol(DB00266)	TTTATTTCAATAGTACCTCTG	0.353																																						uc001dgk.2		NA																	0					0						c.(754-756)ATT>TTT		crystallin, zeta isoform a	Dicumarol(DB00266)						166.0	167.0	167.0					1																	75172657		2203	4300	6503	SO:0001583	missense	1429				protein homotetramerization|visual perception|xenobiotic catabolic process	cytosol|Golgi apparatus	mRNA 3'-UTR binding|NADPH binding|NADPH:quinone reductase activity|zinc ion binding	g.chr1:75172657T>A		CCDS665.1, CCDS44162.1, CCDS44163.1	1p31.1	2013-02-14			ENSG00000116791	ENSG00000116791			2419	protein-coding gene	gene with protein product		123691					Standard	NM_001889		Approved		uc001dgj.3	Q08257	OTTHUMG00000009620	ENST00000340866.5:c.754A>T	1.37:g.75172657T>A	ENSP00000339399:p.Ile252Phe					CRYZ_uc001dgj.2_Missense_Mutation_p.I252F|CRYZ_uc001dgl.2_Missense_Mutation_p.I218F|CRYZ_uc001dgm.2_Missense_Mutation_p.I115F	p.I252F	NM_001130042	NP_001123514	Q08257	QOR_HUMAN			9	1259	-			252					A6NN60|D3DQ76|Q53FT0|Q59EU7|Q5HYE7|Q6NSK9	Missense_Mutation	SNP	ENST00000340866.5	37	c.754A>T	CCDS665.1	.	.	.	.	.	.	.	.	.	.	T	17.23	3.336970	0.60963	.	.	ENSG00000116791	ENST00000340866;ENST00000370872;ENST00000417775;ENST00000370871	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	4.76	2.48	0.30137	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.125473	0.52532	D	0.000072	T	0.15349	0.0370	M	0.62088	1.915	0.58432	D	0.999999	B;B;B	0.34313	0.31;0.13;0.448	B;B;B	0.35413	0.159;0.088;0.202	T	0.02781	-1.1111	10	0.34782	T	0.22	-16.8183	8.8442	0.35159	0.0:0.1608:0.0:0.8392	.	115;218;252	Q5HYE7;A6NN60;Q08257	.;.;QOR_HUMAN	F	252;115;252;218	ENSP00000339399:I252F;ENSP00000359909:I115F;ENSP00000399805:I252F;ENSP00000359908:I218F	ENSP00000339399:I252F	I	-	1	0	CRYZ	74945245	1.000000	0.71417	0.940000	0.37924	0.898000	0.52572	2.787000	0.47798	0.921000	0.36994	0.482000	0.46254	ATT		0.353	CRYZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026514.1			55	264	0	0	0	0	55	264				
CCDC18	343099	broad.mit.edu	37	1	93651989	93651989	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:93651989G>A	ENST00000343253.7	+	4	893	c.391G>A	c.(391-393)Gtc>Atc	p.V131I	CCDC18_ENST00000557479.1_Missense_Mutation_p.V249I|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000338949.4_5'UTR|CCDC18_ENST00000401026.3_Missense_Mutation_p.V131I			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	131										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TGCTTGTTTGGTCACACAGAA	0.343																																						uc001dpq.2		NA																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(745-747)GTC>ATC		sarcoma antigen NY-SAR-41							69.0	66.0	67.0					1																	93651989		1821	4080	5901	SO:0001583	missense	343099							g.chr1:93651989G>A			1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.391G>A	1.37:g.93651989G>A	ENSP00000343377:p.Val131Ile						p.V249I	NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	4	913	+		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)	131			Potential.		Q6ZU17	Missense_Mutation	SNP	ENST00000343253.7	37	c.745G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.81|12.81	2.049275|2.049275	0.36181|0.36181	.|.	.|.	ENSG00000122483|ENSG00000122483	ENST00000343253;ENST00000401026;ENST00000557479|ENST00000370276	.|.	.|.	.|.	5.51|5.51	3.37|3.37	0.38596|0.38596	.|.	0.312229|.	0.30356|.	N|.	0.009802|.	T|.	0.29355|.	0.0731|.	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	B|.	0.20550|.	0.046|.	B|.	0.15484|.	0.013|.	T|.	0.07252|.	-1.0782|.	9|.	0.31617|.	T|.	0.26|.	.|.	6.4808|6.4808	0.22061|0.22061	0.1451:0.1778:0.6772:0.0|0.1451:0.1778:0.6772:0.0	.|.	249|.	G3V388|.	.|.	I|X	131;131;249|184	.|.	ENSP00000343377:V131I|.	V|W	+|+	1|3	0|0	CCDC18|CCDC18	93424577|93424577	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.225000|1.225000	0.32551|0.32551	2.596000|2.596000	0.87737|0.87737	0.579000|0.579000	0.79373|0.79373	GTC|TGG		0.343	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886		29	78	0	0	0	0	29	78				
IGSF3	3321	broad.mit.edu	37	1	117208931	117208931	+	Silent	SNP	C	C	G	rs373177032		TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:117208931C>G	ENST00000369486.3	-	2	783	c.18G>C	c.(16-18)ccG>ccC	p.P6P	IGSF3_ENST00000369483.1_Silent_p.P6P|IGSF3_ENST00000318837.6_Silent_p.P6P	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	6					lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		AGCTCAGCACCGGGAAAAAGC	0.493																																						uc001egr.1		NA																	0				ovary(2)	2						c.(16-18)CCG>CCC		immunoglobulin superfamily, member 3 isoform 2							141.0	129.0	133.0					1																	117208931		2203	4300	6503	SO:0001819	synonymous_variant	3321					integral to membrane		g.chr1:117208931C>G	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.18G>C	1.37:g.117208931C>G						IGSF3_uc001egq.1_Silent_p.P6P	p.P6P	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	2	723	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	6					A6NJZ6|A6NMC7	Silent	SNP	ENST00000369486.3	37	c.18G>C	CCDS30813.1																																																																																				0.493	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		18	107	0	0	0	0	18	107				
GJA8	2703	broad.mit.edu	37	1	147380566	147380566	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:147380566G>A	ENST00000369235.1	+	1	484	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	GJA8_ENST00000240986.4_Missense_Mutation_p.E162K			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	162					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GACCCTCTTTGAAGTGGGCTT	0.587																																					Melanoma(76;1255 1795 8195 52096)	uc001epu.1		NA																	0				ovary(2)|large_intestine(2)|breast(1)|skin(1)	6						c.(484-486)GAA>AAA		connexin 50							116.0	114.0	115.0					1																	147380566		2203	4300	6503	SO:0001583	missense	2703				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	g.chr1:147380566G>A	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"""Ion channels / Gap junction proteins (connexins)"""	4281	protein-coding gene	gene with protein product	"""connexin 50"""	600897	"""gap junction protein, alpha 8, 50kD (connexin 50)"", ""gap junction protein, alpha 8, 50kDa (connexin 50)"""	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.484G>A	1.37:g.147380566G>A	ENSP00000358238:p.Glu162Lys						p.E162K	NM_005267	NP_005258	P48165	CXA8_HUMAN			2	547	+	all_hematologic(923;0.0276)		162			Helical; (Potential).		A7L5M5|Q5VVN9|Q9NP25	Missense_Mutation	SNP	ENST00000369235.1	37	c.484G>A	CCDS30834.1	.	.	.	.	.	.	.	.	.	.	g	27.3	4.820470	0.90873	.	.	ENSG00000121634	ENST00000240986;ENST00000369235	D;D	0.97831	-4.56;-4.56	4.89	4.89	0.63831	Gap junction protein, cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.99239	0.9735	H	0.97131	3.945	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98962	1.0798	10	0.87932	D	0	.	18.0406	0.89318	0.0:0.0:1.0:0.0	.	162	P48165	CXA8_HUMAN	K	162	ENSP00000240986:E162K;ENSP00000358238:E162K	ENSP00000240986:E162K	E	+	1	0	GJA8	145847190	1.000000	0.71417	0.999000	0.59377	0.957000	0.61999	9.772000	0.98984	2.241000	0.73720	0.313000	0.20887	GAA		0.587	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		51	180	0	0	0	0	51	180				
FLG	2312	broad.mit.edu	37	1	152280937	152280937	+	Missense_Mutation	SNP	G	G	T	rs372882396		TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:152280937G>T	ENST00000368799.1	-	3	6460	c.6425C>A	c.(6424-6426)cCg>cAg	p.P2142Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2142	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTTGGCCCCGGGTGTCCACG	0.577									Ichthyosis				-|||	1	0.000199681	0.0	0.0	5008	,	,		27977	0.0		0.0	False		,,,				2504	0.001					uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(6424-6426)CCG>CAG		filaggrin							397.0	317.0	344.0					1																	152280937		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152280937G>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6425C>A	1.37:g.152280937G>T	ENSP00000357789:p.Pro2142Gln						p.P2142Q	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6461	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2142			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.6425C>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	g	4.826	0.153477	0.09185	.	.	ENSG00000143631	ENST00000368799	T	0.01613	4.73	3.12	0.865	0.19074	.	.	.	.	.	T	0.00784	0.0026	M	0.75447	2.3	0.09310	N	1	B	0.18863	0.031	B	0.17979	0.02	T	0.47649	-0.9101	9	0.11182	T	0.66	.	7.0568	0.25104	0.0:0.0:0.5098:0.4902	.	2142	P20930	FILA_HUMAN	Q	2142	ENSP00000357789:P2142Q	ENSP00000357789:P2142Q	P	-	2	0	FLG	150547561	0.000000	0.05858	0.004000	0.12327	0.008000	0.06430	0.441000	0.21611	0.607000	0.29982	0.485000	0.47835	CCG		0.577	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		106	798	1	0	4.38e-64	6.1e-64	106	798				
LCE1A	353131	broad.mit.edu	37	1	152800041	152800041	+	Silent	SNP	A	A	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:152800041A>C	ENST00000335123.2	+	1	93	c.93A>C	c.(91-93)ccA>ccC	p.P31P		NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	31	Cys-rich.				keratinization (GO:0031424)					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			agtgccccccaaagtgtcccc	0.672																																						uc010pdw.1		NA																	0				ovary(1)|skin(1)	2						c.(91-93)CCA>CCC		late cornified envelope 1A							60.0	66.0	64.0					1																	152800041		2203	4300	6503	SO:0001819	synonymous_variant	353131				keratinization			g.chr1:152800041A>C		CCDS1028.1	1q21.3	2011-01-28			ENSG00000186844	ENSG00000186844		"""Late cornified envelopes"""	29459	protein-coding gene	gene with protein product		612603				11698679	Standard	NM_178348		Approved	LEP1	uc010pdw.2	Q5T7P2	OTTHUMG00000012447	ENST00000335123.2:c.93A>C	1.37:g.152800041A>C							p.P31P	NM_178348	NP_848125	Q5T7P2	LCE1A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		1	93	+	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		31			Cys-rich.			Silent	SNP	ENST00000335123.2	37	c.93A>C	CCDS1028.1																																																																																				0.672	LCE1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034660.2	NM_178348		49	134	0	0	0	0	49	134				
ASH1L	55870	broad.mit.edu	37	1	155340386	155340386	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:155340386C>A	ENST00000368346.3	-	12	7249	c.6610G>T	c.(6610-6612)Gat>Tat	p.D2204Y	ASH1L_ENST00000392403.3_Missense_Mutation_p.D2199Y			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2204	Catalytic domain.|SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ATCCCACTATCCAGGTTCAGG	0.418																																						uc009wqq.2		NA																	0				skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11						c.(6610-6612)GAT>TAT		absent, small, or homeotic 1-like							186.0	162.0	170.0					1																	155340386		2203	4300	6503	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155340386C>A	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.6610G>T	1.37:g.155340386C>A	ENSP00000357330:p.Asp2204Tyr					RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Missense_Mutation_p.D2199Y	p.D2204Y	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		12	7090	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		2204			SET.		Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.6610G>T		.	.	.	.	.	.	.	.	.	.	C	18.99	3.739229	0.69304	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.82255	-1.59;-1.59	4.87	3.94	0.45596	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.88768	0.6526	M	0.84683	2.71	0.80722	D	1	D;D	0.64830	0.994;0.993	D;P	0.63381	0.914;0.86	D	0.90977	0.4824	10	0.87932	D	0	.	14.872	0.70465	0.0:0.8556:0.1444:0.0	.	2204;2199	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	Y	2204;2199	ENSP00000357330:D2204Y;ENSP00000376204:D2199Y	ENSP00000357330:D2204Y	D	-	1	0	ASH1L	153607010	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	7.651000	0.83577	1.267000	0.44247	0.650000	0.86243	GAT		0.418	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		58	189	1	0	9e-20	1.2e-19	58	189				
PAPPA2	60676	broad.mit.edu	37	1	176668318	176668318	+	Silent	SNP	G	G	A	rs376986324		TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:176668318G>A	ENST00000367662.3	+	8	3993	c.2829G>A	c.(2827-2829)acG>acA	p.T943T		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	943					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGAACATGACGGTCCCCTGCC	0.602																																						uc001gkz.2		NA																	0				ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(2827-2829)ACG>ACA		pappalysin 2 isoform 1							93.0	95.0	94.0					1																	176668318		1979	4136	6115	SO:0001819	synonymous_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176668318G>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.2829G>A	1.37:g.176668318G>A						PAPPA2_uc009www.2_RNA	p.T943T	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			8	3993	+			943					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	c.2829G>A	CCDS41438.1																																																																																				0.602	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			50	152	0	0	0	0	50	152				
LAMC1	3915	broad.mit.edu	37	1	183093839	183093839	+	Silent	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:183093839C>T	ENST00000258341.4	+	14	2732	c.2475C>T	c.(2473-2475)tgC>tgT	p.C825C		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	825	Laminin EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						TGAGACTTTGCCGCCTGTGCC	0.507																																						uc001gpy.3		NA																	0				ovary(3)|large_intestine(1)|kidney(1)	5						c.(2473-2475)TGC>TGT		laminin, gamma 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						120.0	109.0	113.0					1																	183093839		2203	4300	6503	SO:0001819	synonymous_variant	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183093839C>T	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.2475C>T	1.37:g.183093839C>T							p.C825C	NM_002293	NP_002284	P11047	LAMC1_HUMAN			14	2732	+			825			Laminin EGF-like 7.		Q5VYE7	Silent	SNP	ENST00000258341.4	37	c.2475C>T	CCDS1351.1																																																																																				0.507	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		4	105	0	0	0	0	4	105				
PROX1	5629	broad.mit.edu	37	1	214178607	214178607	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:214178607G>A	ENST00000366958.4	+	3	2433	c.1825G>A	c.(1825-1827)Gac>Aac	p.D609N	PROX1_ENST00000498508.2_Missense_Mutation_p.D609N|PROX1_ENST00000261454.4_Missense_Mutation_p.D609N|PROX1_ENST00000435016.1_Missense_Mutation_p.D609N	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	609					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CTACTTCTCCGACGTAAAGGT	0.378																																						uc001hkh.2		NA																	0				ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6						c.(1825-1827)GAC>AAC		prospero homeobox 1							91.0	89.0	90.0					1																	214178607		2203	4300	6503	SO:0001583	missense	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214178607G>A	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1825G>A	1.37:g.214178607G>A	ENSP00000355925:p.Asp609Asn						p.D609N	NM_002763	NP_002754	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	3	2097	+			609			Prospero-type homeobox.		A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	c.1825G>A	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.177941	0.78564	.	.	ENSG00000117707	ENST00000541470;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.59083	0.29;0.29;0.29;0.29	5.62	5.62	0.85841	Homeo-prospero domain (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.80031	0.4549	M	0.86268	2.805	0.80722	D	1	D	0.67145	0.996	D	0.75484	0.986	T	0.82422	-0.0465	10	0.72032	D	0.01	-4.9933	19.6753	0.95930	0.0:0.0:1.0:0.0	.	609	Q92786	PROX1_HUMAN	N	181;609;609;609;609	ENSP00000420283:D609N;ENSP00000355925:D609N;ENSP00000400694:D609N;ENSP00000261454:D609N	ENSP00000261454:D609N	D	+	1	0	PROX1	212245230	1.000000	0.71417	0.986000	0.45419	0.575000	0.36095	9.869000	0.99810	2.648000	0.89879	0.563000	0.77884	GAC		0.378	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		22	97	0	0	0	0	22	97				
PTPN14	5784	broad.mit.edu	37	1	214557343	214557343	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:214557343G>C	ENST00000366956.5	-	13	2049	c.1855C>G	c.(1855-1857)Cag>Gag	p.Q619E	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	619					lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TGGAGAGACTGATGAACCACC	0.637																																					Colon(92;557 1424 24372 34121 40073)	uc001hkk.1		NA																	0				breast(2)|ovary(1)|kidney(1)|skin(1)	5						c.(1855-1857)CAG>GAG		protein tyrosine phosphatase, non-receptor type							44.0	44.0	44.0					1																	214557343		2203	4300	6503	SO:0001583	missense	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214557343G>C	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.1855C>G	1.37:g.214557343G>C	ENSP00000355923:p.Gln619Glu					PTPN14_uc010pty.1_Missense_Mutation_p.Q520E	p.Q619E	NM_005401	NP_005392	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	13	2126	-			619					Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	37	c.1855C>G	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.100513	0.76983	.	.	ENSG00000152104	ENST00000366956	T	0.70045	-0.45	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.78729	0.4329	L	0.57536	1.79	0.80722	D	1	D	0.54964	0.969	D	0.64877	0.93	T	0.75923	-0.3146	10	0.35671	T	0.21	.	19.2563	0.93947	0.0:0.0:1.0:0.0	.	619	Q15678	PTN14_HUMAN	E	619	ENSP00000355923:Q619E	ENSP00000355923:Q619E	Q	-	1	0	PTPN14	212623966	1.000000	0.71417	0.977000	0.42913	0.890000	0.51754	9.137000	0.94496	2.558000	0.86282	0.557000	0.71058	CAG		0.637	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		24	65	0	0	0	0	24	65				
MIA3	375056	broad.mit.edu	37	1	222803588	222803588	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:222803588A>G	ENST00000344922.5	+	4	3051	c.3026A>G	c.(3025-3027)aAt>aGt	p.N1009S	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Missense_Mutation_p.N1009S	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1009					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		ATGAACGAAAATAACATATTT	0.433																																						uc001hnl.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(3025-3027)AAT>AGT		melanoma inhibitory activity family, member 3							98.0	96.0	97.0					1																	222803588		1921	4134	6055	SO:0001583	missense	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222803588A>G		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.3026A>G	1.37:g.222803588A>G	ENSP00000340900:p.Asn1009Ser					MIA3_uc009xea.1_Missense_Mutation_p.N845S	p.N1009S	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	4	3035	+			1009			Extracellular (Potential).		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	c.3026A>G	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	A	10.82	1.459347	0.26248	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831	T;T	0.03831	3.79;3.79	5.16	-6.08	0.02151	.	.	.	.	.	T	0.01730	0.0055	N	0.02315	-0.6	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.0	T	0.47947	-0.9077	9	0.49607	T	0.09	.	5.3499	0.16030	0.2928:0.0:0.3485:0.3587	.	1009;1009	Q5JRA6-2;Q5JRA6	.;MIA3_HUMAN	S	1009	ENSP00000340900:N1009S;ENSP00000340587:N1009S	ENSP00000325973:N1009S	N	+	2	0	MIA3	220870211	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.186000	0.09670	-0.529000	0.06358	0.369000	0.22263	AAT		0.433	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		35	140	0	0	0	0	35	140				
TRIM17	51127	broad.mit.edu	37	1	228596365	228596365	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:228596365T>C	ENST00000366697.2	-	6	1927	c.971A>G	c.(970-972)gAg>gGg	p.E324G	TRIM11_ENST00000366699.3_5'Flank|RP11-245P10.4_ENST00000436779.1_RNA|TRIM11_ENST00000284551.6_5'Flank|TRIM11_ENST00000493030.2_5'Flank|TRIM17_ENST00000366698.2_Missense_Mutation_p.E324G|TRIM17_ENST00000295033.3_Missense_Mutation_p.E324G			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	324	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein autoubiquitination (GO:0051865)	intracellular (GO:0005622)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				CCCACTGCCCTCCGGCGAAGA	0.637																																						uc001hsu.2		NA																	0				ovary(1)	1						c.(970-972)GAG>GGG		tripartite motif-containing 17 isoform 1							46.0	51.0	49.0					1																	228596365		2203	4300	6503	SO:0001583	missense	51127				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:228596365T>C	AF156271	CCDS1571.1, CCDS44327.1	1q42	2013-01-09	2011-01-25	2001-11-30	ENSG00000162931	ENSG00000162931		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	13430	protein-coding gene	gene with protein product	"""ring finger protein 16"", ""RING finger protein terf"", ""testis RING finger protein"""	606123	"""tripartite motif-containing 17"""	RNF16		9792805, 10894938	Standard	NM_016102		Approved	terf, RBCC	uc001hsv.3	Q9Y577	OTTHUMG00000039974	ENST00000366697.2:c.971A>G	1.37:g.228596365T>C	ENSP00000355658:p.Glu324Gly					TRIM11_uc001hss.2_5'Flank|TRIM11_uc010pvx.1_5'Flank|TRIM11_uc001hst.1_5'Flank|TRIM17_uc001hsv.2_Missense_Mutation_p.E324G|TRIM17_uc001hsw.2_Missense_Mutation_p.E297G	p.E324G	NM_016102	NP_057186	Q9Y577	TRI17_HUMAN			7	1356	-		Prostate(94;0.0724)	324			B30.2/SPRY.		B4DVJ2|Q5VST8	Missense_Mutation	SNP	ENST00000366697.2	37	c.971A>G	CCDS1571.1	.	.	.	.	.	.	.	.	.	.	T	8.012	0.757722	0.15846	.	.	ENSG00000162931	ENST00000366697;ENST00000366698;ENST00000295033	T;T;T	0.52754	0.65;0.65;0.65	4.71	4.71	0.59529	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);B30.2/SPRY domain (1);	1.307360	0.05258	N	0.515210	T	0.33235	0.0856	N	0.04724	-0.175	0.19300	N	0.999972	B	0.18863	0.031	B	0.11329	0.006	T	0.19192	-1.0313	10	0.54805	T	0.06	.	12.7857	0.57504	0.0:0.0:0.0:1.0	.	324	Q9Y577	TRI17_HUMAN	G	324	ENSP00000355658:E324G;ENSP00000355659:E324G;ENSP00000295033:E324G	ENSP00000295033:E324G	E	-	2	0	TRIM17	226662988	0.301000	0.24444	0.166000	0.22797	0.004000	0.04260	1.837000	0.39201	2.048000	0.60808	0.533000	0.62120	GAG		0.637	TRIM17-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096439.2	NM_016102		27	93	0	0	0	0	27	93				
RYR2	6262	broad.mit.edu	37	1	237604656	237604656	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:237604656G>C	ENST00000366574.2	+	13	1360	c.1043G>C	c.(1042-1044)gGc>gCc	p.G348A	RYR2_ENST00000360064.6_Missense_Mutation_p.G346A|RYR2_ENST00000542537.1_Missense_Mutation_p.G332A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	348					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAAGTAGATGGCATGGGAACA	0.398																																						uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(1042-1044)GGC>GCC		cardiac muscle ryanodine receptor							152.0	148.0	149.0					1																	237604656		1873	4111	5984	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237604656G>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.1043G>C	1.37:g.237604656G>C	ENSP00000355533:p.Gly348Ala						p.G348A	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		13	1163	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	348			Cytoplasmic (By similarity).		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.1043G>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.790079	0.70337	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.87650	-2.28;-2.28;-2.28	5.39	5.39	0.77823	MIR motif (1);MIR (2);	0.000000	0.64402	D	0.000004	D	0.92681	0.7674	M	0.77406	2.37	0.80722	D	1	D	0.71674	0.998	D	0.64321	0.924	D	0.90279	0.4313	10	0.23891	T	0.37	.	19.5142	0.95155	0.0:0.0:1.0:0.0	.	348	Q92736	RYR2_HUMAN	A	348;346;332	ENSP00000355533:G348A;ENSP00000353174:G346A;ENSP00000443798:G332A	ENSP00000353174:G346A	G	+	2	0	RYR2	235671279	1.000000	0.71417	1.000000	0.80357	0.518000	0.34316	9.800000	0.99124	2.679000	0.91253	0.655000	0.94253	GGC		0.398	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		28	114	0	0	0	0	28	114				
RYR2	6262	broad.mit.edu	37	1	237758918	237758918	+	Silent	SNP	A	A	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:237758918A>T	ENST00000366574.2	+	34	4874	c.4557A>T	c.(4555-4557)acA>acT	p.T1519T	RYR2_ENST00000360064.6_Silent_p.T1517T|RYR2_ENST00000542537.1_Silent_p.T1503T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1519	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGCTGCTCACATTCATTGCCA	0.517																																						uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(4555-4557)ACA>ACT		cardiac muscle ryanodine receptor							74.0	82.0	79.0					1																	237758918		2097	4236	6333	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237758918A>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.4557A>T	1.37:g.237758918A>T							p.T1519T	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		34	4677	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1519			Cytoplasmic (By similarity).|B30.2/SPRY 3.|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.4557A>T	CCDS55691.1																																																																																				0.517	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		10	51	0	0	0	0	10	51				
OR2B11	127623	broad.mit.edu	37	1	247615247	247615247	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:247615247G>T	ENST00000318749.6	-	1	61	c.38C>A	c.(37-39)cCt>cAt	p.P13H		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	13						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GAAGGCTTTAGGGGAGTCCCC	0.493																																						uc010pyx.1		NA																	0				upper_aerodigestive_tract(1)	1						c.(37-39)CCT>CAT		olfactory receptor, family 2, subfamily B,							111.0	124.0	120.0					1																	247615247		2203	4300	6503	SO:0001583	missense	127623				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247615247G>T		CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"""GPCR / Class A : Olfactory receptors"""	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.38C>A	1.37:g.247615247G>T	ENSP00000325682:p.Pro13His						p.P13H	NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	38	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	13			Extracellular (Potential).		B2RP03	Missense_Mutation	SNP	ENST00000318749.6	37	c.38C>A	CCDS31090.1	.	.	.	.	.	.	.	.	.	.	G	5.574	0.290761	0.10567	.	.	ENSG00000177535	ENST00000318749	T	0.00318	8.12	4.81	2.94	0.34122	.	0.287809	0.24899	N	0.034719	T	0.00356	0.0011	M	0.72118	2.19	0.09310	N	1	D	0.60160	0.987	P	0.54372	0.75	T	0.47086	-0.9144	10	0.14656	T	0.56	.	7.397	0.26942	0.1977:0.0:0.8023:0.0	.	13	Q5JQS5	OR2BB_HUMAN	H	13	ENSP00000325682:P13H	ENSP00000325682:P13H	P	-	2	0	OR2B11	245681870	0.058000	0.20735	0.016000	0.15963	0.044000	0.14063	1.403000	0.34612	0.745000	0.32763	0.544000	0.68410	CCT		0.493	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492		38	124	1	0	2.52e-25	3.42e-25	38	124				
OR2L3	391192	broad.mit.edu	37	1	248224038	248224038	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:248224038C>A	ENST00000359959.3	+	1	55	c.55C>A	c.(55-57)Cca>Aca	p.P19T	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	19						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ATTCTTCCCACCATCAAGAAT	0.393																																						uc001idx.1		NA																	0					0						c.(55-57)CCA>ACA		olfactory receptor, family 2, subfamily L,							243.0	239.0	240.0					1																	248224038		2203	4300	6503	SO:0001583	missense	391192				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248224038C>A	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.55C>A	1.37:g.248224038C>A	ENSP00000353044:p.Pro19Thr					OR2L13_uc001ids.2_Intron	p.P19T	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	55	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		19			Extracellular (Potential).		B9EH44	Missense_Mutation	SNP	ENST00000359959.3	37	c.55C>A	CCDS31104.1	.	.	.	.	.	.	.	.	.	.	.	1.446	-0.566207	0.03910	.	.	ENSG00000198128	ENST00000359959	T	0.03982	3.74	1.47	-0.61	0.11604	.	.	.	.	.	T	0.02888	0.0086	N	0.05158	-0.105	0.09310	N	1	B	0.21225	0.053	B	0.33121	0.158	T	0.47761	-0.9092	9	0.49607	T	0.09	.	4.9486	0.14002	0.0:0.4028:0.0:0.5972	.	19	Q8NG85	OR2L3_HUMAN	T	19	ENSP00000353044:P19T	ENSP00000353044:P19T	P	+	1	0	OR2L3	246290661	0.000000	0.05858	0.010000	0.14722	0.083000	0.17756	-1.395000	0.02516	-0.189000	0.10482	0.462000	0.41574	CCA		0.393	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687		98	436	1	0	7.8e-59	1.08e-58	98	436				
PLCE1	51196	broad.mit.edu	37	10	95791310	95791310	+	Silent	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr10:95791310G>A	ENST00000371380.3	+	1	742	c.507G>A	c.(505-507)caG>caA	p.Q169Q	PLCE1_ENST00000260766.3_Silent_p.Q169Q			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	169					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TAGGAAATCAGTCAGTGATCA	0.428																																						uc001kjk.2		NA																	0				ovary(2)|skin(1)	3						c.(505-507)CAG>CAA		phospholipase C, epsilon 1 isoform 1							86.0	84.0	85.0					10																	95791310		1968	4148	6116	SO:0001819	synonymous_variant	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:95791310G>A		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.507G>A	10.37:g.95791310G>A						PLCE1_uc010qnx.1_Silent_p.Q169Q	p.Q169Q	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN			2	1141	+		Colorectal(252;0.0458)	169					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Silent	SNP	ENST00000371380.3	37	c.507G>A	CCDS41552.1																																																																																				0.428	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		62	80	0	0	0	0	62	80				
SORCS3	22986	broad.mit.edu	37	10	106924096	106924096	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr10:106924096G>A	ENST00000369701.3	+	12	1995	c.1768G>A	c.(1768-1770)Ggt>Agt	p.G590S		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	590					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TACTGATATTGGTGTGTTCAT	0.448																																					NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1		NA																	0				ovary(6)|skin(3)|central_nervous_system(1)	10						c.(1768-1770)GGT>AGT		VPS10 domain receptor protein SORCS 3 precursor							116.0	103.0	107.0					10																	106924096		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106924096G>A	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.1768G>A	10.37:g.106924096G>A	ENSP00000358715:p.Gly590Ser						p.G590S	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	12	1995	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	590			Lumenal (Potential).		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.1768G>A	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	G	7.276	0.608040	0.14002	.	.	ENSG00000156395	ENST00000369701;ENST00000393176	T;T	0.40756	1.02;1.02	6.17	3.32	0.38043	VPS10 (1);	0.149706	0.64402	N	0.000011	T	0.19287	0.0463	N	0.04297	-0.235	0.43007	D	0.994539	B	0.20550	0.046	B	0.25506	0.061	T	0.05273	-1.0895	9	.	.	.	.	8.7688	0.34719	0.2877:0.0:0.7123:0.0	.	590	Q9UPU3	SORC3_HUMAN	S	590;35	ENSP00000358715:G590S;ENSP00000376876:G35S	.	G	+	1	0	SORCS3	106914086	0.989000	0.36119	0.973000	0.42090	0.998000	0.95712	2.039000	0.41193	0.466000	0.27193	0.655000	0.94253	GGT		0.448	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		32	45	0	0	0	0	32	45				
FAM160B1	57700	broad.mit.edu	37	10	116602933	116602933	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr10:116602933C>T	ENST00000369248.4	+	6	1099	c.764C>T	c.(763-765)cCa>cTa	p.P255L	FAM160B1_ENST00000369250.3_Missense_Mutation_p.P255L	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	255										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						GTTGTTTGTCCAAATCAGGAT	0.413																																						uc001lcb.2		NA																	0				lung(1)	1						c.(763-765)CCA>CTA		hypothetical protein LOC57700 isoform a							123.0	114.0	117.0					10																	116602933		2203	4300	6503	SO:0001583	missense	57700							g.chr10:116602933C>T	AB046820	CCDS31290.1, CCDS44480.1	10q26.11	2008-06-05	2008-06-05	2008-06-05	ENSG00000151553	ENSG00000151553			29320	protein-coding gene	gene with protein product			"""KIAA1600"""	KIAA1600		10997877	Standard	NM_020940		Approved	bA106M7.3	uc001lcb.3	Q5W0V3	OTTHUMG00000019092	ENST00000369248.4:c.764C>T	10.37:g.116602933C>T	ENSP00000358251:p.Pro255Leu					FAM160B1_uc001lcc.2_Missense_Mutation_p.P255L	p.P255L	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN			6	1099	+			255					Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2	Missense_Mutation	SNP	ENST00000369248.4	37	c.764C>T	CCDS31290.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.208167	0.58343	.	.	ENSG00000151553	ENST00000369248;ENST00000369250	T;T	0.67171	-0.25;-0.25	5.51	5.51	0.81932	.	0.296123	0.39407	N	0.001374	T	0.48874	0.1524	N	0.12182	0.205	0.80722	D	1	B;B	0.20887	0.006;0.049	B;B	0.22152	0.038;0.032	T	0.45131	-0.9282	10	0.37606	T	0.19	-15.2808	12.7271	0.57176	0.0:0.9247:0.0:0.0753	.	255;255	Q5W0V3-2;Q5W0V3	.;F16B1_HUMAN	L	255	ENSP00000358251:P255L;ENSP00000358253:P255L	ENSP00000358251:P255L	P	+	2	0	FAM160B1	116592923	0.928000	0.31464	0.998000	0.56505	0.996000	0.88848	1.660000	0.37397	2.588000	0.87417	0.655000	0.94253	CCA		0.413	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050499.1	XM_049351		64	111	0	0	0	0	64	111				
PNLIPRP1	5407	broad.mit.edu	37	10	118351941	118351941	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr10:118351941C>T	ENST00000528052.1	+	4	289	c.218C>T	c.(217-219)tCt>tTt	p.S73F	PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.S73F|PNLIPRP1_ENST00000442761.1_Missense_Mutation_p.S73F|PNLIPRP1_ENST00000480870.2_3'UTR|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.S73F			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	73					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		CTCCTCCTCTCTGATCCATCA	0.493																																						uc001lco.1		NA																	0				ovary(1)|breast(1)	2						c.(217-219)TCT>TTT		pancreatic lipase-related protein 1 precursor							123.0	125.0	124.0					10																	118351941		2203	4300	6503	SO:0001583	missense	5407				lipid metabolic process		calcium ion binding|triglyceride lipase activity	g.chr10:118351941C>T	BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.218C>T	10.37:g.118351941C>T	ENSP00000433933:p.Ser73Phe					PNLIPRP1_uc001lcp.2_Missense_Mutation_p.S73F|PNLIPRP1_uc001lcn.2_Missense_Mutation_p.S73F|PNLIPRP1_uc009xys.1_RNA	p.S73F	NM_006229	NP_006220	P54315	LIPR1_HUMAN		all cancers(201;0.0161)	4	236	+			73					Q68D83|Q68DR6|Q8TAU2|Q9BS82	Missense_Mutation	SNP	ENST00000528052.1	37	c.218C>T	CCDS7595.1	.	.	.	.	.	.	.	.	.	.	C	7.941	0.742813	0.15642	.	.	ENSG00000187021	ENST00000531984;ENST00000358834;ENST00000528052;ENST00000442761;ENST00000530319;ENST00000527980;ENST00000471549;ENST00000534537	D;D;D;D;D;D;D;D	0.91351	-2.73;-2.73;-2.73;-2.73;-2.83;-2.73;-2.73;-2.73	5.36	4.42	0.53409	Lipase, N-terminal (1);	0.303789	0.29205	N	0.012827	D	0.89822	0.6826	L	0.47078	1.49	0.09310	N	1	P;P	0.50943	0.816;0.94	P;P	0.54346	0.547;0.749	T	0.82741	-0.0307	10	0.59425	D	0.04	-16.2246	6.8224	0.23864	0.2961:0.621:0.0:0.0829	.	73;73	P54315;P54315-2	LIPR1_HUMAN;.	F	73	ENSP00000436123:S73F;ENSP00000351695:S73F;ENSP00000433933:S73F;ENSP00000400963:S73F;ENSP00000437263:S73F;ENSP00000433785:S73F;ENSP00000431207:S73F;ENSP00000434159:S73F	ENSP00000351695:S73F	S	+	2	0	PNLIPRP1	118341931	0.895000	0.30542	0.862000	0.33874	0.779000	0.44077	-0.076000	0.11412	2.502000	0.84385	0.655000	0.94253	TCT		0.493	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384633.1	NM_006229		76	107	0	0	0	0	76	107				
DMBT1	1755	broad.mit.edu	37	10	124339305	124339305	+	Silent	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr10:124339305C>A	ENST00000338354.3	+	10	997	c.891C>A	c.(889-891)gtC>gtA	p.V297V	DMBT1_ENST00000368956.2_Silent_p.V297V|DMBT1_ENST00000344338.3_Silent_p.V297V|DMBT1_ENST00000368909.3_Silent_p.V297V|DMBT1_ENST00000368955.3_Silent_p.V297V|DMBT1_ENST00000330163.4_Silent_p.V297V|DMBT1_ENST00000359586.6_Intron			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	297	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GACCCATTGTCCTGGATGATG	0.597																																					Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1		NA																	0				central_nervous_system(7)	7						c.(889-891)GTC>GTA		deleted in malignant brain tumors 1 isoform b							65.0	65.0	65.0					10																	124339305		1882	4080	5962	SO:0001819	synonymous_variant	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124339305C>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.891C>A	10.37:g.124339305C>A						DMBT1_uc001lgl.1_Silent_p.V297V|DMBT1_uc001lgm.1_Silent_p.V297V|DMBT1_uc009xzz.1_Silent_p.V297V|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Silent_p.V149V	p.V297V	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			10	997	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	297			SRCR 2.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Silent	SNP	ENST00000338354.3	37	c.891C>A																																																																																					0.597	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		121	153	1	0	2.99e-63	4.15e-63	121	153				
DMBT1	1755	broad.mit.edu	37	10	124351999	124351999	+	Silent	SNP	T	T	A	rs201693044	byFrequency	TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr10:124351999T>A	ENST00000338354.3	+	20	2494	c.2388T>A	c.(2386-2388)gtT>gtA	p.V796V	DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000344338.3_Silent_p.V786V|DMBT1_ENST00000368909.3_Silent_p.V796V|DMBT1_ENST00000368955.3_Silent_p.V786V|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000359586.6_Intron			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	796	SRCR 6. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GACCCATTGTTCTGGATGATG	0.602																																					Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1		NA																	0				central_nervous_system(7)	7						c.(2386-2388)GTT>GTA		deleted in malignant brain tumors 1 isoform b							165.0	123.0	137.0					10																	124351999		2008	4108	6116	SO:0001819	synonymous_variant	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124351999T>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.2388T>A	10.37:g.124351999T>A						DMBT1_uc001lgl.1_Silent_p.V786V|DMBT1_uc001lgm.1_Intron|DMBT1_uc009xzz.1_Silent_p.V796V|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Silent_p.V409V	p.V796V	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			20	2494	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	796			SRCR 6.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Silent	SNP	ENST00000338354.3	37	c.2388T>A																																																																																					0.602	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		7	283	0	0	0	0	7	283				
OR52K2	119774	broad.mit.edu	37	11	4471232	4471232	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr11:4471232C>G	ENST00000325719.4	+	1	708	c.663C>G	c.(661-663)atC>atG	p.I221M		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	221						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGTCTTATATCTTTATTCTTC	0.483																																						uc001lyz.1		NA																	0				skin(2)	2						c.(661-663)ATC>ATG		olfactory receptor, family 52, subfamily K,							355.0	299.0	318.0					11																	4471232		2201	4298	6499	SO:0001583	missense	119774				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4471232C>G	AB065791	CCDS31351.1	11p15.4	2012-08-09			ENSG00000181963	ENSG00000181963		"""GPCR / Class A : Olfactory receptors"""	15223	protein-coding gene	gene with protein product							Standard	NM_001005172		Approved		uc001lyz.2	Q8NGK3	OTTHUMG00000165703	ENST00000325719.4:c.663C>G	11.37:g.4471232C>G	ENSP00000318956:p.Ile221Met						p.I221M	NM_001005172	NP_001005172	Q8NGK3	O52K2_HUMAN		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	663	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	221			Cytoplasmic (Potential).		A8MUY8|B2RP35|Q6IFK4	Missense_Mutation	SNP	ENST00000325719.4	37	c.663C>G	CCDS31351.1	.	.	.	.	.	.	.	.	.	.	C	5.954	0.359960	0.11296	.	.	ENSG00000181963	ENST00000325719	T	0.00169	8.63	4.02	-1.57	0.08506	GPCR, rhodopsin-like superfamily (1);	0.491701	0.17090	N	0.187412	T	0.00210	0.0006	L	0.41236	1.265	0.09310	N	1	P	0.40619	0.724	P	0.51170	0.661	T	0.43940	-0.9360	10	0.52906	T	0.07	.	4.8181	0.13376	0.0:0.2498:0.2896:0.4607	.	221	Q8NGK3	O52K2_HUMAN	M	221	ENSP00000318956:I221M	ENSP00000318956:I221M	I	+	3	3	OR52K2	4427808	0.000000	0.05858	0.151000	0.22473	0.018000	0.09664	-3.596000	0.00420	0.051000	0.15978	0.485000	0.47835	ATC		0.483	OR52K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385844.1	NM_001005172		114	189	0	0	0	0	114	189				
TRIM22	10346	broad.mit.edu	37	11	5730848	5730848	+	Silent	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr11:5730848C>T	ENST00000379965.3	+	8	1744	c.1467C>T	c.(1465-1467)gtC>gtT	p.V489V	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	489	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|immune response (GO:0006955)|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 trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		ACTGCCTAGTCCCCATGACTG	0.483																																					GBM(104;491 2336 5222)	uc001mbr.2		NA																	0					0						c.(1465-1467)GTC>GTT		tripartite motif-containing 22							127.0	131.0	130.0					11																	5730848		2170	4276	6446	SO:0001819	synonymous_variant	10346				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr11:5730848C>T	X82200	CCDS41612.1	11p15	2013-01-09	2011-01-25		ENSG00000132274	ENSG00000132274		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16379	protein-coding gene	gene with protein product		606559	"""tripartite motif-containing 22"""			11331580, 11096452	Standard	NM_006074		Approved	STAF50, GPSTAF50, RNF94	uc001mbr.3	Q8IYM9	OTTHUMG00000066904	ENST00000379965.3:c.1467C>T	11.37:g.5730848C>T						TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron|TRIM22_uc009yes.2_Silent_p.V485V|TRIM22_uc010qzm.1_Silent_p.V317V|TRIM22_uc009yeu.2_Silent_p.V300V|OR56B1_uc001mbs.1_Intron|OR56B1_uc009yev.1_Intron	p.V489V	NM_006074	NP_006065	Q8IYM9	TRI22_HUMAN		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)	8	1744	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	489			B30.2/SPRY.		Q05CQ0|Q15521	Silent	SNP	ENST00000379965.3	37	c.1467C>T	CCDS41612.1																																																																																				0.483	TRIM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143387.2	NM_006074		51	131	0	0	0	0	51	131				
STK33	65975	broad.mit.edu	37	11	8435138	8435138	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr11:8435138C>A	ENST00000447869.1	-	11	2166	c.1248G>T	c.(1246-1248)aaG>aaT	p.K416N	STK33_ENST00000315204.1_Missense_Mutation_p.K416N|STK33_ENST00000396673.1_Intron|STK33_ENST00000396672.1_Missense_Mutation_p.K416N|STK33_ENST00000358872.3_Missense_Mutation_p.K229N|STK33_ENST00000473980.1_5'UTR|STK33_ENST00000534493.1_Missense_Mutation_p.K375N			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	416					protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		ACGGCTTATTCTTCTCTTCTG	0.403																																						uc001mgi.1		NA																	0				ovary(2)|lung(2)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(1246-1248)AAG>AAT		serine/threonine kinase 33							285.0	253.0	264.0					11																	8435138		2201	4296	6497	SO:0001583	missense	65975					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:8435138C>A	AJ303380	CCDS7789.1, CCDS73253.1, CCDS73254.1	11p15.3	2010-03-10			ENSG00000130413	ENSG00000130413			14568	protein-coding gene	gene with protein product		607670				11738831	Standard	NM_030906		Approved		uc001mgj.1	Q9BYT3	OTTHUMG00000140275	ENST00000447869.1:c.1248G>T	11.37:g.8435138C>A	ENSP00000416750:p.Lys416Asn					STK33_uc001mgj.1_Missense_Mutation_p.K416N|STK33_uc001mgk.1_Missense_Mutation_p.K416N|STK33_uc010rbn.1_Missense_Mutation_p.K375N|STK33_uc001mgl.3_Missense_Mutation_p.K229N	p.K416N	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN		Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)	11	2167	-			416					Q658S6|Q8NEF5	Missense_Mutation	SNP	ENST00000447869.1	37	c.1248G>T	CCDS7789.1	.	.	.	.	.	.	.	.	.	.	C	10.19	1.282061	0.23392	.	.	ENSG00000130413	ENST00000447869;ENST00000315204;ENST00000396672;ENST00000358872;ENST00000534493	T;T;T;T;T	0.71934	-0.55;-0.55;-0.55;-0.61;-0.54	4.87	2.98	0.34508	Protein kinase-like domain (1);	1.161600	0.06239	N	0.690101	T	0.61813	0.2377	L	0.39898	1.24	0.09310	N	1	B	0.17465	0.022	B	0.10450	0.005	T	0.50440	-0.8828	10	0.48119	T	0.1	.	6.1787	0.20459	0.184:0.7218:0.0:0.0942	.	416	Q9BYT3	STK33_HUMAN	N	416;416;416;229;375	ENSP00000416750:K416N;ENSP00000320754:K416N;ENSP00000379905:K416N;ENSP00000351743:K229N;ENSP00000436418:K375N	ENSP00000320754:K416N	K	-	3	2	STK33	8391714	0.001000	0.12720	0.001000	0.08648	0.008000	0.06430	0.046000	0.14035	0.755000	0.32990	-0.309000	0.09137	AAG		0.403	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276819.2	NM_030906		104	220	1	0	7.35e-47	1.01e-46	104	220				
MRGPRX2	117194	broad.mit.edu	37	11	19077130	19077130	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr11:19077130C>T	ENST00000329773.2	-	2	907	c.820G>A	c.(820-822)Gcc>Acc	p.A274T		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	274					positive regulation of cytokinesis (GO:0032467)|sensory perception of pain (GO:0019233)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide binding (GO:0042923)			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						ATGGGGTTGGCACTGCTGTTA	0.473																																					GBM(198;1966 2199 4849 37227 49954)	uc001mph.2		NA																	0				ovary(1)	1						c.(820-822)GCC>ACC		MAS-related GPR, member X2							76.0	80.0	79.0					11																	19077130		2199	4293	6492	SO:0001583	missense	117194				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	g.chr11:19077130C>T		CCDS7847.1	11p15.1	2013-10-10			ENSG00000183695	ENSG00000183695		"""GPCR / Class A : Orphans"""	17983	protein-coding gene	gene with protein product		607228				11551509	Standard	NM_054030		Approved	MRGX2	uc001mph.3	Q96LB1	OTTHUMG00000166098	ENST00000329773.2:c.820G>A	11.37:g.19077130C>T	ENSP00000333800:p.Ala274Thr						p.A274T	NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN			2	908	-			274			Helical; Name=7; (Potential).		B5B0C7|Q4QXW4|Q4QXW7|Q4QXX0|Q4QXX2|Q4QXX3|Q4QXX4|Q4QXX6|Q4QXX7	Missense_Mutation	SNP	ENST00000329773.2	37	c.820G>A	CCDS7847.1	.	.	.	.	.	.	.	.	.	.	.	16.40	3.113108	0.56398	.	.	ENSG00000183695	ENST00000329773	T	0.37752	1.18	5.26	1.07	0.20283	GPCR, rhodopsin-like superfamily (1);	1.213240	0.05665	N	0.587625	T	0.63165	0.2488	M	0.90922	3.16	0.09310	N	1	D	0.71674	0.998	D	0.66084	0.941	T	0.31280	-0.9949	10	0.56958	D	0.05	.	4.9502	0.14009	0.1461:0.5967:0.0:0.2572	.	274	Q96LB1	MRGX2_HUMAN	T	274	ENSP00000333800:A274T	ENSP00000333800:A274T	A	-	1	0	MRGPRX2	19033706	0.000000	0.05858	0.121000	0.21740	0.835000	0.47333	-2.235000	0.01202	0.112000	0.17975	-0.345000	0.07892	GCC		0.473	MRGPRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387819.1	NM_054030		36	81	0	0	0	0	36	81				
CCDC73	493860	broad.mit.edu	37	11	32781750	32781750	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr11:32781750T>A	ENST00000335185.5	-	2	83	c.40A>T	c.(40-42)Act>Tct	p.T14S	CCDC73_ENST00000534415.1_5'UTR|CCDC73_ENST00000531481.1_Missense_Mutation_p.T14S	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	14										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					CTTTGAAGAGTAAAAGTAGAT	0.299																																						uc001mtv.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(40-42)ACT>TCT		sarcoma antigen NY-SAR-79							112.0	113.0	113.0					11																	32781750		1799	4060	5859	SO:0001583	missense	493860							g.chr11:32781750T>A	AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.40A>T	11.37:g.32781750T>A	ENSP00000335325:p.Thr14Ser					CCDC73_uc001mtw.1_Missense_Mutation_p.T14S|CCDC73_uc009yjt.2_Missense_Mutation_p.T14S	p.T14S	NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN			2	84	-	Breast(20;0.112)		14					Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	ENST00000335185.5	37	c.40A>T	CCDS41630.1	.	.	.	.	.	.	.	.	.	.	T	14.30	2.493743	0.44352	.	.	ENSG00000186714	ENST00000335185;ENST00000531481	.	.	.	5.78	-11.6	0.00059	.	.	.	.	.	T	0.12944	0.0314	N	0.12182	0.205	0.09310	N	1	B;B;B	0.16603	0.0;0.005;0.018	B;B;B	0.16722	0.003;0.005;0.016	T	0.08452	-1.0721	8	0.21014	T	0.42	.	4.4092	0.11425	0.2847:0.0758:0.0786:0.561	.	14;14;14	A6H8Y7;Q6ZRK6-2;Q6ZRK6	.;.;CCD73_HUMAN	S	14	.	ENSP00000335325:T14S	T	-	1	0	CCDC73	32738326	0.090000	0.21635	0.002000	0.10522	0.973000	0.67179	-1.284000	0.02793	-1.791000	0.01261	0.459000	0.35465	ACT		0.299	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391		55	124	0	0	0	0	55	124				
OR4C12	283093	broad.mit.edu	37	11	50003946	50003946	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr11:50003946A>C	ENST00000335238.4	-	1	125	c.92T>G	c.(91-93)gTt>gGt	p.V31G		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						CATGTAAAGAACCAAAAATAC	0.413																																						uc010ria.1		NA																	0				ovary(2)|skin(1)	3						c.(91-93)GTT>GGT		olfactory receptor, family 4, subfamily C,							66.0	65.0	65.0					11																	50003946		2201	4296	6497	SO:0001583	missense	283093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:50003946A>C	BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"""GPCR / Class A : Olfactory receptors"""	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.92T>G	11.37:g.50003946A>C	ENSP00000334418:p.Val31Gly						p.V31G	NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN			1	92	-			31			Helical; Name=1; (Potential).		B2RNF0|Q6IF49	Missense_Mutation	SNP	ENST00000335238.4	37	c.92T>G	CCDS31496.1	.	.	.	.	.	.	.	.	.	.	.	10.71	1.426627	0.25726	.	.	ENSG00000221954	ENST00000335238	T	0.00433	7.43	3.31	3.31	0.37934	.	1.910860	0.03396	U	0.202589	T	0.00440	0.0014	L	0.38733	1.17	0.09310	N	0.999999	B	0.29627	0.252	B	0.35182	0.197	T	0.47156	-0.9139	10	0.87932	D	0	.	6.7805	0.23643	0.7594:0.2406:0.0:0.0	.	31	Q96R67	OR4CC_HUMAN	G	31	ENSP00000334418:V31G	ENSP00000334418:V31G	V	-	2	0	OR4C12	49960522	0.000000	0.05858	0.001000	0.08648	0.152000	0.21847	0.346000	0.19997	1.528000	0.49103	0.325000	0.21440	GTT		0.413	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391104.1	NM_001005270		38	84	0	0	0	0	38	84				
OR5L2	26338	broad.mit.edu	37	11	55595068	55595068	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr11:55595068C>T	ENST00000378397.1	+	1	374	c.374C>T	c.(373-375)gCc>gTc	p.A125V		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CGCTTTGTGGCCATCTGTAAC	0.527										HNSCC(27;0.073)																												uc001nhy.1		NA																	0				ovary(1)	1						c.(373-375)GCC>GTC		olfactory receptor, family 5, subfamily L,							195.0	172.0	180.0					11																	55595068		2200	4296	6496	SO:0001583	missense	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55595068C>T	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.374C>T	11.37:g.55595068C>T	ENSP00000367650:p.Ala125Val	HNSCC(27;0.073)					p.A125V	NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN			1	374	+		all_epithelial(135;0.208)	125			Cytoplasmic (Potential).		Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	c.374C>T	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	25.8	4.673654	0.88445	.	.	ENSG00000205030	ENST00000378397	T	0.01228	5.14	5.18	4.27	0.50696	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000119	T	0.07728	0.0194	H	0.95745	3.715	0.42515	D	0.992982	D	0.54964	0.969	P	0.48770	0.589	T	0.05053	-1.0909	10	0.87932	D	0	-40.3203	13.032	0.58847	0.0:0.9206:0.0:0.0793	.	125	Q8NGL0	OR5L2_HUMAN	V	125	ENSP00000367650:A125V	ENSP00000367650:A125V	A	+	2	0	OR5L2	55351644	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.460000	0.80816	1.350000	0.45770	0.626000	0.83405	GCC		0.527	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		81	248	0	0	0	0	81	248				
OR5J2	282775	broad.mit.edu	37	11	55944902	55944902	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr11:55944902A>C	ENST00000312298.1	+	1	809	c.809A>C	c.(808-810)cAa>cCa	p.Q270P		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					TTTGTGGAACAAGAGAAAGTG	0.438																																						uc010rjb.1		NA																	0				ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4						c.(808-810)CAA>CCA		olfactory receptor, family 5, subfamily J,							114.0	114.0	114.0					11																	55944902		2201	4296	6497	SO:0001583	missense	282775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55944902A>C	AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"""GPCR / Class A : Olfactory receptors"""	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.809A>C	11.37:g.55944902A>C	ENSP00000310788:p.Gln270Pro						p.Q270P	NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN			1	809	+	Esophageal squamous(21;0.00693)		270			Extracellular (Potential).		Q6IEU5	Missense_Mutation	SNP	ENST00000312298.1	37	c.809A>C	CCDS31522.1	.	.	.	.	.	.	.	.	.	.	A	9.328	1.059795	0.19987	.	.	ENSG00000174957	ENST00000312298	T	0.00164	8.64	4.05	1.53	0.23141	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000067	T	0.00412	0.0013	M	0.84585	2.705	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.39820	-0.9595	10	0.52906	T	0.07	.	6.4583	0.21942	0.6965:0.1534:0.0:0.1501	.	270	Q8NH18	OR5J2_HUMAN	P	270	ENSP00000310788:Q270P	ENSP00000310788:Q270P	Q	+	2	0	OR5J2	55701478	0.000000	0.05858	0.444000	0.26895	0.016000	0.09150	-0.049000	0.11924	1.639000	0.50556	0.482000	0.46254	CAA		0.438	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	NM_001005492		28	138	0	0	0	0	28	138				
SPTBN2	6712	broad.mit.edu	37	11	66460712	66460712	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr11:66460712G>A	ENST00000533211.1	-	24	5130	c.4799C>T	c.(4798-4800)gCg>gTg	p.A1600V	SPTBN2_ENST00000529997.1_Missense_Mutation_p.A1600V|SPTBN2_ENST00000309996.2_Missense_Mutation_p.A1600V			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1600					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCAGGCCTCCGCCTCGGCGGC	0.622																																						uc001ojd.2		NA																	0				large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(4798-4800)GCG>GTG		spectrin, beta, non-erythrocytic 2							66.0	69.0	68.0					11																	66460712		2200	4295	6495	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66460712G>A	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.4799C>T	11.37:g.66460712G>A	ENSP00000432568:p.Ala1600Val						p.A1600V	NM_006946	NP_008877	O15020	SPTN2_HUMAN			23	4871	-			1600			Spectrin 13.		O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.4799C>T	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.963331	0.74016	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.48522	0.81;0.81;0.81	4.38	4.38	0.52667	.	0.000000	0.85682	D	0.000000	T	0.52025	0.1709	M	0.62154	1.92	0.80722	D	1	D	0.76494	0.999	P	0.49012	0.598	T	0.50882	-0.8775	10	0.23302	T	0.38	.	15.8576	0.78994	0.0:0.0:1.0:0.0	.	1600	O15020	SPTN2_HUMAN	V	1600	ENSP00000432568:A1600V;ENSP00000311489:A1600V;ENSP00000433593:A1600V	ENSP00000311489:A1600V	A	-	2	0	SPTBN2	66217288	1.000000	0.71417	0.966000	0.40874	0.617000	0.37484	7.582000	0.82546	2.268000	0.75426	0.462000	0.41574	GCG		0.622	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		32	111	0	0	0	0	32	111				
TMEM135	65084	broad.mit.edu	37	11	86802426	86802426	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr11:86802426A>T	ENST00000305494.5	+	4	424	c.385A>T	c.(385-387)Atg>Ttg	p.M129L	TMEM135_ENST00000355734.4_Missense_Mutation_p.M129L|TMEM135_ENST00000340353.7_Missense_Mutation_p.M129L|TMEM135_ENST00000532959.1_Intron|TMEM135_ENST00000535167.1_Intron	NM_022918.3	NP_075069.3	Q86UB9	TM135_HUMAN	transmembrane protein 135	129					peroxisome organization (GO:0007031)	integral component of membrane (GO:0016021)|peroxisome (GO:0005777)				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CACAATTTATATGGCCAACTT	0.279																																						uc001pch.2		NA																	0					0						c.(385-387)ATG>TTG		transmembrane protein 135							113.0	115.0	114.0					11																	86802426		2201	4296	6497	SO:0001583	missense	65084					integral to membrane		g.chr11:86802426A>T	BX648678	CCDS8280.1, CCDS53692.1	11q14.2	2006-03-09			ENSG00000166575	ENSG00000166575			26167	protein-coding gene	gene with protein product						12477932	Standard	NM_022918		Approved	FLJ22104	uc001pch.3	Q86UB9	OTTHUMG00000167248	ENST00000305494.5:c.385A>T	11.37:g.86802426A>T	ENSP00000306344:p.Met129Leu					TMEM135_uc010rtt.1_Intron|TMEM135_uc001pci.2_Missense_Mutation_p.M129L|TMEM135_uc001pcg.1_Missense_Mutation_p.M129L	p.M129L	NM_022918	NP_075069	Q86UB9	TM135_HUMAN			4	408	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	129					Q6AW91|Q8ND01|Q9H6M3	Missense_Mutation	SNP	ENST00000305494.5	37	c.385A>T	CCDS8280.1	.	.	.	.	.	.	.	.	.	.	A	15.41	2.824895	0.50739	.	.	ENSG00000166575	ENST00000340353;ENST00000526733;ENST00000525018;ENST00000355734;ENST00000305494	T;T;T;T	0.39592	1.13;1.09;2.61;1.07	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.27169	0.0666	N	0.20881	0.62	0.80722	D	1	B;B;B	0.29136	0.234;0.0;0.0	B;B;B	0.22880	0.042;0.003;0.001	T	0.09509	-1.0671	9	.	.	.	-10.1735	12.0643	0.53580	1.0:0.0:0.0:0.0	.	129;129;129	Q86UB9-2;Q86UB9;Q8N605	.;TM135_HUMAN;.	L	129;98;129;129;129	ENSP00000345513:M129L;ENSP00000433927:M129L;ENSP00000347973:M129L;ENSP00000306344:M129L	.	M	+	1	0	TMEM135	86480074	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.824000	0.62701	2.103000	0.63969	0.383000	0.25322	ATG		0.279	TMEM135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393875.1	NM_022918		34	55	0	0	0	0	34	55				
PZP	5858	broad.mit.edu	37	12	9310409	9310409	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr12:9310409G>T	ENST00000261336.2	-	27	3351	c.3323C>A	c.(3322-3324)tCc>tAc	p.S1108Y	PZP_ENST00000539983.1_5'Flank|PZP_ENST00000381997.2_Missense_Mutation_p.S894Y	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	1108					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						AACATAGGCGGAGAGGGTCGC	0.428																																					Melanoma(125;1402 1695 4685 34487 38571)	uc001qvl.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						c.(3322-3324)TCC>TAC		pregnancy-zone protein precursor							143.0	117.0	126.0					12																	9310409		2203	4300	6503	SO:0001583	missense	5858							g.chr12:9310409G>T	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.3323C>A	12.37:g.9310409G>T	ENSP00000261336:p.Ser1108Tyr					PZP_uc009zgl.2_Missense_Mutation_p.S894Y	p.S1108Y	NM_002864	NP_002855					27	3352	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	c.3323C>A	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.466139	0.43839	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.39787	1.06;1.06	3.95	3.04	0.35103	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.355993	0.22458	U	0.059783	T	0.70798	0.3265	M	0.93898	3.47	0.27979	N	0.936114	B;D	0.89917	0.113;1.0	B;D	0.87578	0.06;0.998	T	0.68116	-0.5494	10	0.87932	D	0	.	12.1831	0.54223	0.0:0.0:0.8267:0.1733	.	894;1108	P20742-2;P20742	.;PZP_HUMAN	Y	1108;894	ENSP00000261336:S1108Y;ENSP00000371427:S894Y	ENSP00000261336:S1108Y	S	-	2	0	PZP	9201676	0.838000	0.29461	0.358000	0.25811	0.301000	0.27625	3.585000	0.53943	0.933000	0.37291	0.563000	0.77884	TCC		0.428	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		16	57	1	0	2.49e-13	3.15e-13	16	57				
SMCO3	440087	broad.mit.edu	37	12	14959602	14959602	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr12:14959602C>A	ENST00000316048.2	-	2	85	c.13G>T	c.(13-15)Gac>Tac	p.D5Y	C12orf60_ENST00000330828.2_Intron|C12orf60_ENST00000527783.1_Intron	NM_001013698.2	NP_001013720.2	A2RU48	SMCO3_HUMAN	single-pass membrane protein with coiled-coil domains 3	5						integral component of membrane (GO:0016021)											TAAAGGAAGTCACTTTGGGCC	0.388																																						uc001rck.1		NA																	0					0						c.(13-15)GAC>TAC		hypothetical protein LOC440087							77.0	76.0	77.0					12																	14959602		1823	4086	5909	SO:0001583	missense	440087					integral to membrane		g.chr12:14959602C>A		CCDS41759.1	12p12.3	2013-03-11	2013-03-11	2013-03-11	ENSG00000179256	ENSG00000179256			34401	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 69"""	C12orf69			Standard	NM_001013698		Approved	LOC440087	uc001rck.1	A2RU48	OTTHUMG00000167474	ENST00000316048.2:c.13G>T	12.37:g.14959602C>A	ENSP00000381895:p.Asp5Tyr					C12orf60_uc001rcj.3_Intron	p.D5Y	NM_001013698	NP_001013720	A2RU48	CL069_HUMAN			2	86	-			5					Q8NAI5	Missense_Mutation	SNP	ENST00000316048.2	37	c.13G>T	CCDS41759.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.888044	0.52014	.	.	ENSG00000179256	ENST00000316048	T	0.49720	0.77	5.25	5.25	0.73442	.	0.000000	0.41712	U	0.000837	T	0.54919	0.1888	N	0.24115	0.695	0.39726	D	0.971544	D	0.89917	1.0	D	0.87578	0.998	T	0.60234	-0.7303	10	0.87932	D	0	-34.8737	14.2019	0.65710	0.0:1.0:0.0:0.0	.	5	A2RU48	CL069_HUMAN	Y	5	ENSP00000381895:D5Y	ENSP00000381895:D5Y	D	-	1	0	C12orf69	14850869	1.000000	0.71417	1.000000	0.80357	0.496000	0.33645	4.956000	0.63645	2.722000	0.93159	0.555000	0.69702	GAC		0.388	SMCO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394738.1	NM_001013698		34	170	1	0	4.66e-17	6.1e-17	34	170				
STK38L	23012	broad.mit.edu	37	12	27467947	27467947	+	Splice_Site	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr12:27467947G>A	ENST00000389032.3	+	8	841		c.e8-1		STK38L_ENST00000539577.1_Splice_Site	NM_015000.3	NP_055815.1			serine/threonine kinase 38 like											breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					TTTTTTTTTAGGGTCATGTAA	0.289																																						uc001rhr.2		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|kidney(1)	5						c.e8-1		serine/threonine kinase 38 like							54.0	57.0	56.0					12																	27467947		2201	4298	6499	SO:0001630	splice_region_variant	23012				intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr12:27467947G>A	AB023182	CCDS31761.1	12p11.23	2014-04-23			ENSG00000211455	ENSG00000211455			17848	protein-coding gene	gene with protein product	"""nuclear Dbf2-related 2"""	615836				16488889	Standard	NM_015000		Approved	KIAA0965, NDR2	uc001rhr.3	Q9Y2H1	OTTHUMG00000169284	ENST00000389032.3:c.673-1G>A	12.37:g.27467947G>A						STK38L_uc001rhs.2_Splice_Site|STK38L_uc010sjm.1_Splice_Site_p.G132_splice|STK38L_uc010sjn.1_Splice_Site|STK38L_uc010sjo.1_5'Flank	p.G225_splice	NM_015000	NP_055815	Q9Y2H1	ST38L_HUMAN			8	872	+	Colorectal(261;0.0847)								Splice_Site	SNP	ENST00000389032.3	37	c.673_splice	CCDS31761.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.727412	0.69074	.	.	ENSG00000211455	ENST00000389032;ENST00000545470;ENST00000539577	.	.	.	4.32	4.32	0.51571	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3732	0.87384	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STK38L	27359214	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.429000	0.97481	2.409000	0.81822	0.655000	0.94253	.		0.289	STK38L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403297.1	NM_015000	Intron	4	109	0	0	0	0	4	109				
SLC2A13	114134	broad.mit.edu	37	12	40258621	40258621	+	Missense_Mutation	SNP	C	C	G	rs200242923		TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr12:40258621C>G	ENST00000280871.4	-	6	1312	c.1262G>C	c.(1261-1263)cGc>cCc	p.R421P		NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	421					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				AAAAGTGATGCGTGGGGAAAC	0.408										HNSCC(50;0.14)																												uc010skm.1		NA																	0				ovary(1)	1						c.(1261-1263)CGC>CCC		solute carrier family 2 (facilitated glucose							188.0	172.0	177.0					12																	40258621		2203	4300	6503	SO:0001583	missense	114134					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity	g.chr12:40258621C>G	AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"""Solute carriers"""	15956	protein-coding gene	gene with protein product	"""H(+)-myo-inositol symporter"""	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.1262G>C	12.37:g.40258621C>G	ENSP00000280871:p.Arg421Pro	HNSCC(50;0.14)				C12orf40_uc009zjv.1_Intron|SLC2A13_uc001rme.1_Missense_Mutation_p.R68P	p.R421P	NM_052885	NP_443117	Q96QE2	MYCT_HUMAN			6	1313	-		Lung NSC(34;0.105)|all_lung(34;0.123)	421			Extracellular (Potential).		Q17S07	Missense_Mutation	SNP	ENST00000280871.4	37	c.1262G>C	CCDS8736.2	.	.	.	.	.	.	.	.	.	.	C	10.45	1.353298	0.24512	.	.	ENSG00000151229	ENST00000280871	D	0.81499	-1.5	6.17	-2.29	0.06805	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	2.568960	0.01412	N	0.014040	T	0.42653	0.1212	N	0.00186	-1.895	0.21950	N	0.999459	B	0.02656	0.0	B	0.01281	0.0	T	0.45352	-0.9267	10	0.20046	T	0.44	0.5291	2.0548	0.03578	0.1064:0.2625:0.2968:0.3343	.	421	Q96QE2	MYCT_HUMAN	P	421	ENSP00000280871:R421P	ENSP00000280871:R421P	R	-	2	0	SLC2A13	38544888	0.062000	0.20869	0.005000	0.12908	0.978000	0.69477	-0.054000	0.11826	-0.267000	0.09325	0.655000	0.94253	CGC		0.408	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132849.2			28	148	0	0	0	0	28	148				
SPATS2	65244	broad.mit.edu	37	12	49883256	49883256	+	Silent	SNP	G	G	C	rs374810178		TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr12:49883256G>C	ENST00000553127.1	+	6	627	c.114G>C	c.(112-114)gcG>gcC	p.A38A	SPATS2_ENST00000321898.6_Silent_p.A38A|SPATS2_ENST00000552918.1_Silent_p.A38A			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	38						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						AGATAAATGCGGTACGTGCAA	0.373																																						uc001rud.2		NA																	0				breast(1)	1						c.(112-114)GCG>GCC		spermatogenesis associated, serine-rich 2							103.0	91.0	95.0					12																	49883256		2203	4300	6503	SO:0001819	synonymous_variant	65244					cytoplasm		g.chr12:49883256G>C	AK023179	CCDS31794.1	12q13.12	2009-06-12							18650	protein-coding gene	gene with protein product		611667				11944913, 17989879	Standard	NM_023071		Approved	SPATA10, SCR59, FLJ13117	uc001rud.2	Q86XZ4		ENST00000553127.1:c.114G>C	12.37:g.49883256G>C						SPATS2_uc001rue.2_RNA|SPATS2_uc009zli.1_Silent_p.A38A|SPATS2_uc001ruf.2_Silent_p.A38A|SPATS2_uc001rug.2_Silent_p.A38A	p.A38A	NM_023071	NP_075559	Q86XZ4	SPAS2_HUMAN			5	1103	+			38					A8K8G9|Q9H7D4|Q9H8Y7|Q9H8Z8	Silent	SNP	ENST00000553127.1	37	c.114G>C	CCDS31794.1																																																																																				0.373	SPATS2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404023.1	NM_023071		18	43	0	0	0	0	18	43				
CNPY2	10330	broad.mit.edu	37	12	56708706	56708706	+	Missense_Mutation	SNP	C	C	G	rs79111613		TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr12:56708706C>G	ENST00000273308.4	-	3	673	c.133G>C	c.(133-135)Gtg>Ctg	p.V45L	RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.V45L|RP11-977G19.11_ENST00000549565.1_RNA|RP11-977G19.11_ENST00000549860.1_RNA|CNPY2_ENST00000551720.1_5'UTR|PAN2_ENST00000549090.1_5'Flank	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2	45	Saposin B-type. {ECO:0000255|PROSITE- ProRule:PRU00415}.				negative regulation of gene expression (GO:0010629)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of low-density lipoprotein particle clearance (GO:0010988)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)				large_intestine(2)|lung(2)	4						TTGGGGTCCACCTGGGCAATT	0.537																																						uc001sku.1		NA																	0					0						c.(133-135)GTG>CTG		canopy 2 homolog precursor							123.0	109.0	114.0					12																	56708706		2203	4300	6503	SO:0001583	missense	10330					endoplasmic reticulum|integral to plasma membrane	protein binding	g.chr12:56708706C>G	AB015631	CCDS8914.1	12q15	2013-07-23	2013-07-23	2007-10-22		ENSG00000257727			13529	protein-coding gene	gene with protein product		605861	"""transmembrane protein 4"", ""canopy 2 homolog (zebrafish)"""	TMEM4		10072769, 15905959	Standard	NM_001190991		Approved	HP10390, ZSIG9, Cnpy2	uc001sku.2	Q9Y2B0	OTTHUMG00000170330	ENST00000273308.4:c.133G>C	12.37:g.56708706C>G	ENSP00000273308:p.Val45Leu					CNPY2_uc001skv.2_Missense_Mutation_p.V45L	p.V45L	NM_014255	NP_055070	Q9Y2B0	CNPY2_HUMAN			3	674	-			45			Saposin B-type.		B2R7B9|Q9UHE9	Missense_Mutation	SNP	ENST00000273308.4	37	c.133G>C	CCDS8914.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372540	0.82573	.	.	ENSG00000144785;ENSG00000144785;ENSG00000144785;ENSG00000257727;ENSG00000257727	ENST00000549318;ENST00000547423;ENST00000548360;ENST00000273308;ENST00000551475	T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22	5.51	5.51	0.81932	Saposin B (1);	0.128177	0.51477	D	0.000089	T	0.52757	0.1754	M	0.77313	2.365	0.54753	D	0.999981	P;P	0.50943	0.94;0.907	P;B	0.51135	0.66;0.413	T	0.49634	-0.8919	10	0.32370	T	0.25	-0.5045	18.5772	0.91159	0.0:1.0:0.0:0.0	.	45;45	Q9Y2B0-2;Q9Y2B0	.;CNPY2_HUMAN	L	45	ENSP00000446743:V45L;ENSP00000446506:V45L;ENSP00000447042:V45L;ENSP00000273308:V45L;ENSP00000448809:V45L	ENSP00000273308:V45L	V	-	1	0	RP11-977G19.10;CNPY2	54994973	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.035000	0.49759	2.764000	0.94973	0.655000	0.94253	GTG		0.537	CNPY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408546.1	NM_014255		6	172	0	0	0	0	6	172				
TAC3	6866	broad.mit.edu	37	12	57409476	57409476	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr12:57409476G>T	ENST00000458521.2	-	2	265	c.106C>A	c.(106-108)Cgc>Agc	p.R36S	TAC3_ENST00000415231.1_Missense_Mutation_p.R36S|TAC3_ENST00000441881.1_Missense_Mutation_p.R36S	NM_013251.3	NP_037383.1	Q9UHF0	TKNK_HUMAN	tachykinin 3	36					female pregnancy (GO:0007565)|neuropeptide signaling pathway (GO:0007218)|tachykinin receptor signaling pathway (GO:0007217)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						ACCTTGCTGCGGCCCCCGCCA	0.602																																						uc001smp.2		NA																	0				ovary(1)|skin(1)	2						c.(106-108)CGC>AGC		tachykinin 3 precursor							70.0	69.0	70.0					12																	57409476		2203	4300	6503	SO:0001583	missense	6866				female pregnancy|neuropeptide signaling pathway|tachykinin receptor signaling pathway	extracellular space|soluble fraction	receptor binding	g.chr12:57409476G>T	AF186112	CCDS8928.1, CCDS53803.1	12q13-q21	2013-02-26	2008-07-31		ENSG00000166863	ENSG00000166863		"""Endogenous ligands"""	11521	protein-coding gene	gene with protein product	"""preprotachykinin-B"""	162330	"""neuromedin K"", ""neurokinin beta"""	NKNB		3479225, 10866201	Standard	NM_013251		Approved	ZNEUROK1, NKB	uc001smp.3	Q9UHF0	OTTHUMG00000156958	ENST00000458521.2:c.106C>A	12.37:g.57409476G>T	ENSP00000404056:p.Arg36Ser					TAC3_uc001smr.2_RNA|TAC3_uc001smq.2_RNA|TAC3_uc001smt.2_RNA|TAC3_uc001sms.2_RNA|TAC3_uc010sqy.1_RNA|TAC3_uc001smu.2_RNA|TAC3_uc001smv.2_RNA|TAC3_uc001smo.2_Missense_Mutation_p.R36S	p.R36S	NM_013251	NP_037383	Q9UHF0	TKNK_HUMAN			2	266	-			36					Q6IAG2|Q71BC6|Q71BC9	Missense_Mutation	SNP	ENST00000458521.2	37	c.106C>A	CCDS8928.1	.	.	.	.	.	.	.	.	.	.	G	1.398	-0.578871	0.03854	.	.	ENSG00000166863	ENST00000458521;ENST00000441881;ENST00000415231	D;T;D	0.82893	-1.66;-1.19;-1.66	5.51	2.61	0.31194	.	0.908934	0.09417	N	0.805041	T	0.66107	0.2756	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.002	T	0.50083	-0.8869	10	0.20519	T	0.43	-2.3847	4.4856	0.11788	0.0838:0.1529:0.6048:0.1584	.	36;36	Q9UHF0;Q9UHF0-3	TKNK_HUMAN;.	S	36	ENSP00000404056:R36S;ENSP00000408208:R36S;ENSP00000402995:R36S	ENSP00000300108:R36S	R	-	1	0	TAC3	55695743	0.042000	0.20092	0.000000	0.03702	0.013000	0.08279	1.459000	0.35234	0.265000	0.21872	0.456000	0.33151	CGC		0.602	TAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346793.1	NM_001006667		17	153	1	0	1.56e-12	1.96e-12	17	153				
OAS2	4939	broad.mit.edu	37	12	113444353	113444353	+	Missense_Mutation	SNP	G	G	T	rs200885734		TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr12:113444353G>T	ENST00000342315.4	+	8	1818	c.1604G>T	c.(1603-1605)cGg>cTg	p.R535L	OAS2_ENST00000392583.2_Missense_Mutation_p.R535L|RP1-71H24.1_ENST00000552784.1_RNA	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	535	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						ATTCGCTCCCGGCCCACCAAA	0.463																																					Pancreas(199;709 2232 18410 33584 35052)	uc001tuj.2		NA																	0				ovary(1)	1						c.(1603-1605)CGG>CTG		2'-5'-oligoadenylate synthetase 2 isoform 1							117.0	118.0	118.0					12																	113444353		2203	4300	6503	SO:0001583	missense	4939				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113444353G>T	M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"""2'-5'-oligoadenylate synthetase 2 (69-71 kD)"""			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.1604G>T	12.37:g.113444353G>T	ENSP00000342278:p.Arg535Leu					OAS2_uc001tui.1_Missense_Mutation_p.R535L	p.R535L	NM_016817	NP_058197	P29728	OAS2_HUMAN			8	1744	+			535			OAS domain 2.		A8K9T1|Q6PJ33|Q86XX8	Missense_Mutation	SNP	ENST00000342315.4	37	c.1604G>T	CCDS31906.1	.	.	.	.	.	.	.	.	.	.	.	11.44	1.638781	0.29157	.	.	ENSG00000111335	ENST00000342315;ENST00000392583	T;T	0.12039	2.72;2.72	4.68	1.68	0.24146	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	0.334023	0.21510	N	0.073397	T	0.13372	0.0324	M	0.68317	2.08	0.09310	N	0.999999	B;B	0.28636	0.145;0.218	B;B	0.28385	0.065;0.089	T	0.22068	-1.0227	10	0.62326	D	0.03	-8.2149	3.9442	0.09341	0.2037:0.0:0.6161:0.1801	.	535;535	P29728;P29728-2	OAS2_HUMAN;.	L	535	ENSP00000342278:R535L;ENSP00000376362:R535L	ENSP00000342278:R535L	R	+	2	0	OAS2	111928736	0.011000	0.17503	0.062000	0.19696	0.002000	0.02628	0.906000	0.28517	0.148000	0.19059	-0.982000	0.02568	CGG		0.463	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405937.1			97	198	1	0	5.89e-56	8.15e-56	97	198				
FBXW8	26259	broad.mit.edu	37	12	117465849	117465849	+	Missense_Mutation	SNP	C	C	T	rs569559960		TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr12:117465849C>T	ENST00000309909.5	+	11	1751	c.1669C>T	c.(1669-1671)Cgc>Tgc	p.R557C	FBXW8_ENST00000455858.2_Missense_Mutation_p.R491C			Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	557					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|labyrinthine layer blood vessel development (GO:0060716)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|spongiotrophoblast layer development (GO:0060712)	Cul7-RING ubiquitin ligase complex (GO:0031467)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)		p.R557C(1)		endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		GGGGCTGATCCGCGCCTATGA	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		17496	0.0		0.0	False		,,,				2504	0.001					uc001twg.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1669-1671)CGC>TGC		F-box and WD repeat domain containing 8 isoform							97.0	74.0	81.0					12																	117465849		2203	4300	6503	SO:0001583	missense	26259						protein binding	g.chr12:117465849C>T	AF176707	CCDS9182.1, CCDS44988.1	12q24.23	2013-01-09	2007-02-08	2003-06-13				"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13597	protein-coding gene	gene with protein product		609073	"""F-box only protein 29"", ""F-box and WD-40 domain protein 8"""	FBXO29		10531035, 10531037	Standard	NM_012174		Approved	FBX29, FBW6, FBW8	uc001twg.1	Q8N3Y1	OTTHUMG00000169329	ENST00000309909.5:c.1669C>T	12.37:g.117465849C>T	ENSP00000310686:p.Arg557Cys					FBXW8_uc001twf.1_Missense_Mutation_p.R491C|FBXW8_uc009zwp.1_RNA	p.R557C	NM_153348	NP_699179	Q8N3Y1	FBXW8_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0353)	11	1751	+	all_neural(191;0.117)|Medulloblastoma(191;0.163)		557					Q9UK95	Missense_Mutation	SNP	ENST00000309909.5	37	c.1669C>T	CCDS9182.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.162621	0.38217	.	.	ENSG00000174989	ENST00000309909;ENST00000455858;ENST00000505227	T;T	0.09817	2.99;2.94	4.93	3.08	0.35506	.	0.408444	0.30528	N	0.009438	T	0.06416	0.0165	N	0.20685	0.6	0.30803	N	0.739653	B;B	0.17268	0.012;0.021	B;B	0.08055	0.003;0.002	T	0.10314	-1.0635	10	0.36615	T	0.2	-7.0038	7.3007	0.26418	0.0:0.6839:0.0:0.3161	.	557;491	Q8N3Y1;Q8N3Y1-2	FBXW8_HUMAN;.	C	557;491;491	ENSP00000310686:R557C;ENSP00000389144:R491C	ENSP00000310686:R557C	R	+	1	0	FBXW8	115950232	1.000000	0.71417	0.995000	0.50966	0.497000	0.33675	1.943000	0.40253	1.062000	0.40625	0.591000	0.81541	CGC		0.622	FBXW8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403561.1	NM_012174		3	58	0	0	0	0	3	58				
CIT	11113	broad.mit.edu	37	12	120195319	120195319	+	Silent	SNP	G	G	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr12:120195319G>C	ENST00000261833.7	-	21	2488	c.2436C>G	c.(2434-2436)ctC>ctG	p.L812L	CIT_ENST00000392521.2_Silent_p.L854L|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	812					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)		TCTGTTGCCTGAGTTCAGAAA	0.527																																						uc001txi.1		NA																	0				ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10						c.(2434-2436)CTC>CTG		citron							125.0	120.0	122.0					12																	120195319		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.chr12:120195319G>C	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.2436C>G	12.37:g.120195319G>C						CIT_uc001txh.1_Silent_p.L346L|CIT_uc001txj.1_Silent_p.L854L	p.L812L	NM_007174	NP_009105	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	21	2489	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	812			Potential.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Silent	SNP	ENST00000261833.7	37	c.2436C>G	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	G	8.309	0.821635	0.16678	.	.	ENSG00000122966	ENST00000392520	.	.	.	5.54	3.7	0.42460	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4356	0.50066	0.0684:0.1261:0.8055:0.0	.	.	.	.	X	440	.	.	S	-	2	0	CIT	118679702	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.695000	0.47043	0.697000	0.31718	-0.150000	0.13652	TCA		0.527	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		36	192	0	0	0	0	36	192				
TMEM132D	121256	broad.mit.edu	37	12	129694087	129694087	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr12:129694087G>T	ENST00000422113.2	-	5	1747	c.1421C>A	c.(1420-1422)tCg>tAg	p.S474*	RP11-669N7.3_ENST00000542578.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	474					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TTCATCAGACGATCTACACTC	0.592																																						uc009zyl.1		NA																	0				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(1420-1422)TCG>TAG		transmembrane protein 132D precursor							111.0	90.0	97.0					12																	129694087		2203	4300	6503	SO:0001587	stop_gained	121256					integral to membrane		g.chr12:129694087G>T	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1421C>A	12.37:g.129694087G>T	ENSP00000408581:p.Ser474*						p.S474*	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	5	1749	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	474			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Nonsense_Mutation	SNP	ENST00000422113.2	37	c.1421C>A	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	39	7.601893	0.98384	.	.	ENSG00000151952	ENST00000422113	.	.	.	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.0653	19.2091	0.93747	0.0:0.0:1.0:0.0	.	.	.	.	X	474	.	.	S	-	2	0	TMEM132D	128260040	1.000000	0.71417	0.052000	0.19188	0.199000	0.23934	7.357000	0.79456	2.504000	0.84457	0.655000	0.94253	TCG		0.592	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		7	58	1	0	0.00198382	0.00216214	7	58				
ANKLE2	23141	broad.mit.edu	37	12	133331554	133331554	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr12:133331554C>G	ENST00000357997.5	-	2	436	c.347G>C	c.(346-348)aGg>aCg	p.R116T	ANKLE2_ENST00000539605.1_Missense_Mutation_p.R54T|ANKLE2_ENST00000337516.5_Missense_Mutation_p.R116T	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	116					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		AGAAGACAGCCTTCCTCCTTG	0.473																																						uc001ukx.2		NA																	0					0						c.(346-348)AGG>ACG		ankyrin repeat and LEM domain containing 2							68.0	68.0	68.0					12																	133331554		1916	4137	6053	SO:0001583	missense	23141					cytoplasm|integral to membrane|nuclear envelope		g.chr12:133331554C>G	AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.347G>C	12.37:g.133331554C>G	ENSP00000350686:p.Arg116Thr					ANKLE2_uc001uky.3_Missense_Mutation_p.R54T	p.R116T	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)	2	414	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	116					A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	ENST00000357997.5	37	c.347G>C	CCDS41869.1	.	.	.	.	.	.	.	.	.	.	C	4.557	0.103381	0.08731	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000337516	T;T;T	0.28666	2.03;2.03;1.6	5.41	-2.8	0.05823	LEM-like domain (1);	1.787710	0.02205	N	0.062625	T	0.10465	0.0256	N	0.02736	-0.51	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.11867	-1.0570	10	0.13853	T	0.58	-14.0499	0.7795	0.01038	0.2231:0.2833:0.2613:0.2323	.	116;116	Q86XL3-2;Q86XL3	.;ANKL2_HUMAN	T	54;116;116	ENSP00000446268:R54T;ENSP00000350686:R116T;ENSP00000337651:R116T	ENSP00000337651:R116T	R	-	2	0	ANKLE2	131841627	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	0.103000	0.15292	-0.201000	0.10284	-0.142000	0.14014	AGG		0.473	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			44	79	0	0	0	0	44	79				
CYSLTR2	57105	broad.mit.edu	37	13	49281382	49281382	+	Silent	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr13:49281382C>T	ENST00000282018.3	+	1	432	c.429C>T	c.(427-429)ccC>ccT	p.P143P		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	143					immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell death (GO:0010942)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteinyl leukotriene receptor activity (GO:0001631)|leukotriene receptor activity (GO:0004974)			endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	TGGTTCACCCCTTTCGGCTTC	0.478																																						uc010acx.1		NA																	0				lung(2)	2						c.(427-429)CCC>CCT		cysteinyl leukotriene receptor 2	Nedocromil(DB00716)						206.0	197.0	200.0					13																	49281382		2203	4300	6503	SO:0001819	synonymous_variant	57105				immune response	integral to membrane|plasma membrane		g.chr13:49281382C>T	AB038269	CCDS9412.1	13q14.2	2012-08-10			ENSG00000152207	ENSG00000152207		"""GPCR / Class A : Leukotriene receptors"""	18274	protein-coding gene	gene with protein product		605666				10913337, 1085123	Standard	NM_020377		Approved	CysLT(2), CYSLT2R	uc001vck.2	Q9NS75	OTTHUMG00000016906	ENST00000282018.3:c.429C>T	13.37:g.49281382C>T						CYSLTR2_uc010acy.1_Silent_p.P143P|CYSLTR2_uc010acz.1_Silent_p.P143P|CYSLTR2_uc010ada.1_Silent_p.P143P|CYSLTR2_uc010adb.1_Silent_p.P143P|CYSLTR2_uc010adc.1_Silent_p.P143P|CYSLTR2_uc010add.1_Silent_p.P143P|CYSLTR2_uc010acw.1_Silent_p.P143P|CYSLTR2_uc001vck.2_Silent_p.P143P	p.P143P	NM_020377	NP_065110	Q9NS75	CLTR2_HUMAN		GBM - Glioblastoma multiforme(99;1.19e-09)	6	1112	+		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)	143			Helical; Name=3; (Potential).		Q9HCQ2	Silent	SNP	ENST00000282018.3	37	c.429C>T	CCDS9412.1																																																																																				0.478	CYSLTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044894.1			60	160	0	0	0	0	60	160				
THSD1	55901	broad.mit.edu	37	13	52971420	52971420	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr13:52971420C>T	ENST00000258613.4	-	3	1146	c.968G>A	c.(967-969)aGc>aAc	p.S323N	THSD1_ENST00000349258.4_Missense_Mutation_p.S323N|RNY4P24_ENST00000362735.1_RNA|THSD1_ENST00000544466.1_Intron	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	323					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		ATGGCTTCTGCTTGAAATGCC	0.378																																						uc001vgo.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(967-969)AGC>AAC		thrombospondin type I domain-containing 1							57.0	59.0	58.0					13																	52971420		2203	4300	6503	SO:0001583	missense	55901					extracellular region|integral to membrane|intracellular membrane-bounded organelle		g.chr13:52971420C>T	AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain 1"""				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.968G>A	13.37:g.52971420C>T	ENSP00000258613:p.Ser323Asn					THSD1_uc001vgp.2_Missense_Mutation_p.S323N|THSD1_uc010tgz.1_Intron|THSD1_uc010aea.2_Intron	p.S323N	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN		GBM - Glioblastoma multiforme(99;2.8e-08)	3	1513	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	323			Extracellular (Potential).		A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Missense_Mutation	SNP	ENST00000258613.4	37	c.968G>A	CCDS9432.1	.	.	.	.	.	.	.	.	.	.	C	7.582	0.668847	0.14776	.	.	ENSG00000136114	ENST00000349258;ENST00000258613;ENST00000378095	T;T	0.17054	2.3;2.47	5.57	3.81	0.43845	.	0.224711	0.45126	D	0.000394	T	0.08403	0.0209	N	0.25201	0.72	0.20703	N	0.999865	P;B	0.35272	0.493;0.001	B;B	0.29942	0.109;0.002	T	0.26985	-1.0087	10	0.10377	T	0.69	-14.3797	7.8363	0.29371	0.0:0.738:0.0:0.262	.	323;323	Q9NS62-2;Q9NS62	.;THSD1_HUMAN	N	323	ENSP00000340650:S323N;ENSP00000258613:S323N	ENSP00000258613:S323N	S	-	2	0	THSD1	51869421	1.000000	0.71417	0.182000	0.23118	0.988000	0.76386	0.876000	0.28092	1.322000	0.45245	0.561000	0.74099	AGC		0.378	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3			39	63	0	0	0	0	39	63				
PCDH17	27253	broad.mit.edu	37	13	58208417	58208417	+	Silent	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr13:58208417C>T	ENST00000377918.3	+	1	1763	c.1737C>T	c.(1735-1737)aaC>aaT	p.N579N		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	579	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)			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)		TGAATGACAACGCGCCAGTGA	0.642																																					Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1		NA																	0				ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(1735-1737)AAC>AAT		protocadherin 17 precursor							37.0	37.0	37.0					13																	58208417		2203	4300	6503	SO:0001819	synonymous_variant	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58208417C>T	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.1737C>T	13.37:g.58208417C>T						PCDH17_uc010aec.1_Silent_p.N579N	p.N579N	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	2629	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	579			Extracellular (Potential).|Cadherin 5.		A8K1R5|Q5VVW9|Q5VVX0	Silent	SNP	ENST00000377918.3	37	c.1737C>T	CCDS31986.1																																																																																				0.642	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		14	51	0	0	0	0	14	51				
TOX4	9878	broad.mit.edu	37	14	21957451	21957451	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr14:21957451C>G	ENST00000405508.1	+	6	975	c.699C>G	c.(697-699)ttC>ttG	p.F233L	TOX4_ENST00000262709.3_Missense_Mutation_p.F233L|TOX4_ENST00000448790.2_Missense_Mutation_p.F210L			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	233						chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		ATGCTTTATTCTTTCGTGATA	0.448																																						uc001waz.2		NA																	0				ovary(1)	1						c.(697-699)TTC>TTG		epidermal Langerhans cell protein LCP1							165.0	176.0	172.0					14																	21957451		2203	4300	6503	SO:0001583	missense	9878					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	g.chr14:21957451C>G	AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"""chromosome 14 open reading frame 92"", ""KIAA0737"""	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.699C>G	14.37:g.21957451C>G	ENSP00000385102:p.Phe233Leu					TOX4_uc001way.2_Missense_Mutation_p.F103L|TOX4_uc001wba.2_RNA|TOX4_uc010tlu.1_Missense_Mutation_p.F210L|TOX4_uc010tlv.1_Missense_Mutation_p.F103L	p.F233L	NM_014828	NP_055643	O94842	TOX4_HUMAN	Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)	5	802	+	all_cancers(95;0.000465)		233			HMG box.		B4DPY8|B4DSM0|E7EV69	Missense_Mutation	SNP	ENST00000405508.1	37	c.699C>G	CCDS32043.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.871317	0.72065	.	.	ENSG00000092203	ENST00000405508;ENST00000262709;ENST00000448790;ENST00000545559	D;D;D	0.99150	-5.49;-5.49;-5.49	5.02	0.0441	0.14224	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.99248	0.9738	M	0.93808	3.46	0.58432	D	0.999998	D;D	0.69078	0.997;0.996	D;D	0.83275	0.983;0.996	D	0.99501	1.0953	10	0.72032	D	0.01	.	8.8171	0.35002	0.0:0.4707:0.0:0.5293	.	210;233	B4DPY8;O94842	.;TOX4_HUMAN	L	233;233;210;161	ENSP00000385102:F233L;ENSP00000262709:F233L;ENSP00000393080:F210L	ENSP00000262709:F233L	F	+	3	2	TOX4	21027291	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	1.141000	0.31528	-0.095000	0.12351	0.655000	0.94253	TTC		0.448	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	NM_014828		30	405	0	0	0	0	30	405				
FOXG1	2290	broad.mit.edu	37	14	29237742	29237742	+	Silent	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr14:29237742C>T	ENST00000313071.4	+	1	1456	c.1257C>T	c.(1255-1257)ccC>ccT	p.P419P	FOXG1_ENST00000382535.3_Silent_p.P419P	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	419					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		ACTTTTTCCCCCACGTCCCGC	0.687																																						uc001wqe.2		NA																	0				ovary(2)|lung(2)	4						c.(1255-1257)CCC>CCT		forkhead box G1							54.0	46.0	48.0					14																	29237742		2203	4300	6503	SO:0001819	synonymous_variant	2290				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|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.chr14:29237742C>T		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.1257C>T	14.37:g.29237742C>T							p.P419P	NM_005249	NP_005240	P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	1	1456	+			419					A6NFY2|P55315|Q14488|Q86XT7	Silent	SNP	ENST00000313071.4	37	c.1257C>T	CCDS9636.1																																																																																				0.687	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3			32	67	0	0	0	0	32	67				
SSTR1	6751	broad.mit.edu	37	14	38678698	38678698	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr14:38678698C>A	ENST00000267377.2	+	3	721	c.104C>A	c.(103-105)gCg>gAg	p.A35E		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	35					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glutamate receptor signaling pathway (GO:0007215)|negative regulation of cell proliferation (GO:0008285)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)|Pasireotide(DB06663)	GCCGGCGCTGCGGACGGCATG	0.697																																						uc001wul.1		NA																	0				central_nervous_system(3)|ovary(1)|lung(1)	5						c.(103-105)GCG>GAG		somatostatin receptor 1	Octreotide(DB00104)						28.0	28.0	28.0					14																	38678698		2203	4298	6501	SO:0001583	missense	6751				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity	g.chr14:38678698C>A		CCDS9666.1	14q13	2012-08-08			ENSG00000139874	ENSG00000139874		"""GPCR / Class A : Somatostatin receptors"""	11330	protein-coding gene	gene with protein product		182451				8449518	Standard	NM_001049		Approved		uc001wul.1	P30872	OTTHUMG00000140249	ENST00000267377.2:c.104C>A	14.37:g.38678698C>A	ENSP00000267377:p.Ala35Glu					SSTR1_uc010amu.1_RNA	p.A35E	NM_001049	NP_001040	P30872	SSR1_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	3	721	+	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		35			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000267377.2	37	c.104C>A	CCDS9666.1	.	.	.	.	.	.	.	.	.	.	C	1.589	-0.529525	0.04112	.	.	ENSG00000139874	ENST00000267377	T	0.70749	-0.51	4.84	3.94	0.45596	.	1.167890	0.06847	U	0.796772	T	0.43322	0.1242	N	0.03608	-0.345	0.23260	N	0.998021	B	0.24533	0.105	B	0.18263	0.021	T	0.32719	-0.9896	10	0.02654	T	1	.	8.0793	0.30735	0.0:0.7557:0.1596:0.0847	.	35	P30872	SSR1_HUMAN	E	35	ENSP00000267377:A35E	ENSP00000267377:A35E	A	+	2	0	SSTR1	37748449	0.998000	0.40836	0.977000	0.42913	0.982000	0.71751	2.050000	0.41297	1.259000	0.44117	0.563000	0.77884	GCG		0.697	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409930.2			12	30	1	0	5.51e-06	6.35e-06	12	30				
SEC23A	10484	broad.mit.edu	37	14	39517935	39517935	+	Splice_Site	SNP	T	T	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr14:39517935T>A	ENST00000307712.6	-	15	2177		c.e15-2		SEC23A_ENST00000537403.1_Splice_Site|SEC23A_ENST00000545328.2_Splice_Site|SEC23A_ENST00000536508.1_Splice_Site	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		TTTCTGACACTAAATAAAATA	0.313																																						uc001wup.1		NA																	0				ovary(4)|upper_aerodigestive_tract(1)	5						c.e15-1		SEC23-related protein A							46.0	51.0	49.0					14																	39517935		2202	4298	6500	SO:0001630	splice_region_variant	10484				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding	g.chr14:39517935T>A	X97064	CCDS9668.1	14q21.1	2008-05-14	2001-11-28		ENSG00000100934	ENSG00000100934			10701	protein-coding gene	gene with protein product		610511	"""Sec23 (S. cerevisiae) homolog A"""			8898360, 10329445	Standard	NM_006364		Approved		uc001wup.1	Q15436	OTTHUMG00000028812	ENST00000307712.6:c.1660-2A>T	14.37:g.39517935T>A						SEC23A_uc010tqa.1_Splice_Site_p.C416_splice|SEC23A_uc010tqb.1_Splice_Site_p.C525_splice	p.C554_splice	NM_006364	NP_006355	Q15436	SC23A_HUMAN	Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)	15	1883	-	Hepatocellular(127;0.213)							B2R5P4|B3KXI2|Q8NE16	Splice_Site	SNP	ENST00000307712.6	37	c.1660_splice	CCDS9668.1	.	.	.	.	.	.	.	.	.	.	T	19.56	3.850302	0.71719	.	.	ENSG00000100934	ENST00000537403;ENST00000307712;ENST00000536508;ENST00000545328	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7972	0.78420	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SEC23A	38587686	1.000000	0.71417	0.985000	0.45067	0.701000	0.40568	8.040000	0.89188	2.143000	0.66587	0.533000	0.62120	.		0.313	SEC23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276728.2		Intron	12	71	0	0	0	0	12	71				
LRFN5	145581	broad.mit.edu	37	14	42356462	42356462	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr14:42356462C>A	ENST00000298119.4	+	3	1823	c.634C>A	c.(634-636)Cct>Act	p.P212T	LRFN5_ENST00000554120.1_Missense_Mutation_p.P212T|LRFN5_ENST00000554171.1_Missense_Mutation_p.P212T	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	212						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GAAGCTACCACCTGACCCTCT	0.433										HNSCC(30;0.082)																												uc001wvm.2		NA																	0				ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(634-636)CCT>ACT		leucine rich repeat and fibronectin type III							72.0	70.0	71.0					14																	42356462		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42356462C>A	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.634C>A	14.37:g.42356462C>A	ENSP00000298119:p.Pro212Thr	HNSCC(30;0.082)				LRFN5_uc010ana.2_Missense_Mutation_p.P212T	p.P212T	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	3	1832	+			212			Extracellular (Potential).|LRR 7.		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.634C>A	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.500429	0.64298	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.52526	0.66;0.66;0.66	5.56	5.56	0.83823	.	0.000000	0.56097	D	0.000029	T	0.68081	0.2962	M	0.69248	2.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70498	-0.4855	10	0.87932	D	0	.	17.0193	0.86429	0.0:1.0:0.0:0.0	.	212;212	G3V364;Q96NI6	.;LRFN5_HUMAN	T	212	ENSP00000298119:P212T;ENSP00000451897:P212T;ENSP00000451067:P212T	ENSP00000298119:P212T	P	+	1	0	LRFN5	41426212	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	7.806000	0.86020	2.595000	0.87683	0.650000	0.86243	CCT		0.433	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		41	130	1	0	5.72e-15	7.33e-15	41	130				
L2HGDH	79944	broad.mit.edu	37	14	50736024	50736024	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr14:50736024C>G	ENST00000267436.4	-	7	1160	c.763G>C	c.(763-765)Gtt>Ctt	p.V255L	L2HGDH_ENST00000261699.4_Missense_Mutation_p.V255L|L2HGDH_ENST00000421284.3_Missense_Mutation_p.V255L			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase	255					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2-hydroxyglutarate dehydrogenase activity (GO:0047545)			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					CATGTCACAACATACTGACAT	0.418																																						uc001wxu.2		NA																	0				ovary(2)	2						c.(763-765)GTT>CTT		L-2-hydroxyglutarate dehydrogenase precursor							117.0	112.0	114.0					14																	50736024		2203	4300	6503	SO:0001583	missense	79944				2-oxoglutarate metabolic process|cellular protein metabolic process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity	g.chr14:50736024C>G		CCDS9698.1	14q22.1	2006-04-28	2005-05-25	2005-05-25	ENSG00000087299	ENSG00000087299	1.1.99.2		20499	protein-coding gene	gene with protein product	"""2-hydroxyglutarate dehydrogenase"""	609584	"""chromosome 14 open reading frame 160"""	C14orf160		16005139	Standard	NM_024884		Approved	FLJ12618	uc001wxu.3	Q9H9P8	OTTHUMG00000140289	ENST00000267436.4:c.763G>C	14.37:g.50736024C>G	ENSP00000267436:p.Val255Leu					L2HGDH_uc010tqn.1_Missense_Mutation_p.V255L|L2HGDH_uc010tqo.1_Missense_Mutation_p.V255L	p.V255L	NM_024884	NP_079160	Q9H9P8	L2HDH_HUMAN			7	842	-	all_epithelial(31;0.000599)|Breast(41;0.0102)		255					Q9BRR1	Missense_Mutation	SNP	ENST00000267436.4	37	c.763G>C	CCDS9698.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.458068	0.43634	.	.	ENSG00000087299	ENST00000261699;ENST00000267436;ENST00000421284	D;D;D	0.90444	-2.67;-2.67;-2.67	5.35	3.54	0.40534	FAD dependent oxidoreductase (1);	0.057641	0.64402	D	0.000002	D	0.86264	0.5891	L	0.43152	1.355	0.80722	D	1	B;B	0.27498	0.18;0.071	B;B	0.37943	0.261;0.074	T	0.77101	-0.2712	10	0.22109	T	0.4	-19.6941	6.2493	0.20837	0.0:0.6271:0.1361:0.2368	.	255;255	C9JVN9;Q9H9P8	.;L2HDH_HUMAN	L	255	ENSP00000261699:V255L;ENSP00000267436:V255L;ENSP00000405559:V255L	ENSP00000261699:V255L	V	-	1	0	L2HGDH	49805774	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.791000	0.55469	0.765000	0.33221	0.650000	0.86243	GTT		0.418	L2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276870.2	NM_024884		61	246	0	0	0	0	61	246				
HEATR4	399671	broad.mit.edu	37	14	73985749	73985749	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr14:73985749A>T	ENST00000553558.1	-	5	1509	c.1188T>A	c.(1186-1188)agT>agA	p.S396R	RP3-414A15.11_ENST00000553394.1_RNA|HEATR4_ENST00000560393.1_Missense_Mutation_p.S349R|HEATR4_ENST00000334988.2_Missense_Mutation_p.S396R	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	396										breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		TTGCCTGGGCACTCCACTTTT	0.468																																						uc010tub.1		NA																	0				ovary(1)	1						c.(1186-1188)AGT>AGA		HEAT repeat containing 4							139.0	125.0	130.0					14																	73985749		2203	4300	6503	SO:0001583	missense	399671							g.chr14:73985749A>T	BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.1188T>A	14.37:g.73985749A>T	ENSP00000450444:p.Ser396Arg					HEATR4_uc010tua.1_Missense_Mutation_p.S349R	p.S396R	NM_203309	NP_976054				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)	5	1510	-								B7Z7V9|E9KL41	Missense_Mutation	SNP	ENST00000553558.1	37	c.1188T>A	CCDS9815.2	.	.	.	.	.	.	.	.	.	.	A	14.53	2.561644	0.45590	.	.	ENSG00000187105	ENST00000553558;ENST00000334988	T	0.23950	1.88	5.91	-0.377	0.12501	.	0.314295	0.32314	N	0.006265	T	0.11024	0.0269	L	0.27053	0.805	0.09310	N	0.999999	P	0.45902	0.868	B	0.36666	0.23	T	0.41770	-0.9490	10	0.06625	T	0.88	-6.9643	8.9341	0.35688	0.6067:0.0:0.3933:0.0	.	396	Q86WZ0	HEAT4_HUMAN	R	396;349	ENSP00000450444:S396R	ENSP00000335447:S349R	S	-	3	2	HEATR4	73055502	0.922000	0.31269	0.916000	0.36221	0.884000	0.51177	0.149000	0.16243	-0.273000	0.09246	-0.250000	0.11733	AGT		0.468	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414422.2	NM_203309		38	114	0	0	0	0	38	114				
TTLL5	23093	broad.mit.edu	37	14	76249857	76249857	+	Silent	SNP	C	C	T	rs140291071	byFrequency	TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr14:76249857C>T	ENST00000298832.9	+	26	3175	c.2970C>T	c.(2968-2970)ccC>ccT	p.P990P	TTLL5_ENST00000557636.1_Silent_p.P1004P|TTLL5_ENST00000554510.1_Silent_p.P499P|TTLL5_ENST00000556893.1_Silent_p.P541P	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	990					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		TGTCTCGTCCCTCTTCAGCAA	0.512																																						uc001xrx.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2968-2970)CCC>CCT		tubulin tyrosine ligase-like family, member 5							84.0	73.0	77.0					14																	76249857		2202	4298	6500	SO:0001819	synonymous_variant	23093				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	g.chr14:76249857C>T	AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.2970C>T	14.37:g.76249857C>T						TTLL5_uc010ask.1_Silent_p.P1004P|TTLL5_uc001xrz.2_Silent_p.P565P|TTLL5_uc001xsa.2_Silent_p.P63P|TTLL5_uc001xry.1_RNA	p.P990P	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	26	3175	+			990					B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Silent	SNP	ENST00000298832.9	37	c.2970C>T	CCDS32124.1																																																																																				0.512	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072		33	129	0	0	0	0	33	129				
NRXN3	9369	broad.mit.edu	37	14	80328091	80328091	+	Silent	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr14:80328091C>T	ENST00000557594.1	+	6	2651	c.1698C>T	c.(1696-1698)gtC>gtT	p.V566V	NRXN3_ENST00000335750.5_Silent_p.V990V|NRXN3_ENST00000554719.1_Silent_p.V990V|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000281127.7_Silent_p.V361V|NRXN3_ENST00000428277.2_Silent_p.V388V	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	566					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GGATGGTCGTCGGCATTGTGG	0.607																																						uc001xun.2		NA																	0				ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10						c.(2968-2970)GTC>GTT		neurexin 3 isoform 1 precursor							62.0	58.0	60.0					14																	80328091		2203	4300	6503	SO:0001819	synonymous_variant	9369				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity	g.chr14:80328091C>T	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.1698C>T	14.37:g.80328091C>T						NRXN3_uc001xum.1_RNA|NRXN3_uc001xup.2_RNA|NRXN3_uc001xuq.2_Silent_p.V566V|NRXN3_uc010asw.2_Silent_p.V388V|NRXN3_uc001xur.3_Silent_p.V361V	p.V990V	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	17	3461	+		Renal(4;0.00876)	1572			Helical; (Potential).		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Silent	SNP	ENST00000557594.1	37	c.2970C>T																																																																																					0.607	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	NM_001105250		20	51	0	0	0	0	20	51				
SERPINA10	51156	broad.mit.edu	37	14	94750385	94750385	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr14:94750385G>A	ENST00000393096.1	-	5	1717	c.1252C>T	c.(1252-1254)Cgg>Tgg	p.R418W	SERPINA10_ENST00000261994.4_Missense_Mutation_p.R418W|SERPINA10_ENST00000554723.1_Missense_Mutation_p.R458W|SERPINA10_ENST00000554173.1_Missense_Mutation_p.R418W	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	418					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TGAAATGGCCGGTCCACTTTG	0.453																																						uc001yct.2		NA																	0				ovary(2)|skin(1)	3						c.(1252-1254)CGG>TGG		serine (or cysteine) proteinase inhibitor, clade							99.0	94.0	95.0					14																	94750385		2203	4300	6503	SO:0001583	missense	51156				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94750385G>A	AF181467	CCDS9923.1	14q32.13	2014-02-18	2005-08-18		ENSG00000140093	ENSG00000140093		"""Serine (or cysteine) peptidase inhibitors"""	15996	protein-coding gene	gene with protein product		605271	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10"""			10460162, 9689066, 24172014	Standard	NM_016186		Approved	PZI, ZPI	uc001yct.3	Q9UK55	OTTHUMG00000171345	ENST00000393096.1:c.1252C>T	14.37:g.94750385G>A	ENSP00000376809:p.Arg418Trp					SERPINA10_uc001ycu.3_Missense_Mutation_p.R418W	p.R418W	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	5	1718	-		all_cancers(154;0.105)	418					A5Z2A5|Q6UWX9|Q86U20	Missense_Mutation	SNP	ENST00000393096.1	37	c.1252C>T	CCDS9923.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.213552	0.39102	.	.	ENSG00000140093	ENST00000554723;ENST00000393096;ENST00000261994;ENST00000554173	D;D;D;D	0.90788	-2.73;-2.73;-2.73;-2.73	5.7	2.89	0.33648	Serpin domain (3);	0.336381	0.24725	N	0.036109	D	0.95695	0.8600	M	0.93462	3.42	0.49798	D	0.999829	D	0.89917	1.0	D	0.97110	1.0	D	0.94160	0.7413	10	0.87932	D	0	.	8.3494	0.32292	0.1292:0.0:0.7435:0.1273	.	418	Q9UK55	ZPI_HUMAN	W	458;418;418;418	ENSP00000450896:R458W;ENSP00000376809:R418W;ENSP00000261994:R418W;ENSP00000450971:R418W	ENSP00000261994:R418W	R	-	1	2	SERPINA10	93820138	0.972000	0.33761	0.069000	0.20011	0.001000	0.01503	2.260000	0.43267	0.344000	0.23847	-0.188000	0.12872	CGG		0.453	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413061.1	NM_016186		4	156	0	0	0	0	4	156				
APBA2	321	broad.mit.edu	37	15	29386517	29386517	+	Splice_Site	SNP	G	G	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr15:29386517G>T	ENST00000558402.1	+	9	1850		c.e9+1		APBA2_ENST00000558259.1_Splice_Site|APBA2_ENST00000558330.1_Intron|APBA2_ENST00000411764.1_Intron|APBA2_ENST00000561069.1_Splice_Site			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2						in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GAAAAAAGCGGTGTGTAGGGC	0.517																																						uc001zck.2		NA																	0					0						c.e7+1		amyloid beta A4 precursor protein-binding,							186.0	175.0	179.0					15																	29386517		2203	4300	6503	SO:0001630	splice_region_variant	321				nervous system development|protein transport		protein binding	g.chr15:29386517G>T	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.1251+1G>T	15.37:g.29386517G>T						APBA2_uc010azj.2_Intron|APBA2_uc010uat.1_Intron|APBA2_uc001zcl.2_Intron|APBA2_uc001zcm.1_Intron	p.A417_splice	NM_005503	NP_005494	Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	7	1458	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)						E9PGI4|O60571|Q5XKC0	Splice_Site	SNP	ENST00000558402.1	37	c.1251_splice	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.344445	0.82022	.	.	ENSG00000034053	ENST00000219865	.	.	.	4.91	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0303	0.86459	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	APBA2	27173809	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	8.423000	0.90264	2.427000	0.82271	0.561000	0.74099	.		0.517	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503	Intron	42	114	1	0	1.87e-21	2.52e-21	42	114				
AQP9	366	broad.mit.edu	37	15	58471405	58471405	+	Missense_Mutation	SNP	G	G	C	rs375430625		TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr15:58471405G>C	ENST00000219919.4	+	5	944	c.574G>C	c.(574-576)Gag>Cag	p.E192Q	ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000536493.1_Missense_Mutation_p.E192Q|AQP9_ENST00000558772.1_Missense_Mutation_p.E127Q	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	192					amine transport (GO:0015837)|canalicular bile acid transport (GO:0015722)|carboxylic acid transport (GO:0046942)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|glycerol transport (GO:0015793)|immune response (GO:0006955)|metabolic process (GO:0008152)|polyol transport (GO:0015791)|purine nucleobase transport (GO:0006863)|pyrimidine nucleobase transport (GO:0015855)|pyrimidine-containing compound transmembrane transport (GO:0072531)|response to mercury ion (GO:0046689)|response to organic substance (GO:0010033)|response to osmotic stress (GO:0006970)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water homeostasis (GO:0030104)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carboxylic acid transmembrane transporter activity (GO:0046943)|glycerol channel activity (GO:0015254)|polyol transmembrane transporter activity (GO:0015166)|porin activity (GO:0015288)|purine nucleobase transmembrane transporter activity (GO:0005345)|pyrimidine nucleobase transmembrane transporter activity (GO:0005350)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		CAGAGGCCTAGAGCCCATTGC	0.552																																						uc002aez.2		NA																	0				ovary(1)	1						c.(574-576)GAG>CAG		aquaporin 9		G	GLN/GLU	1,4383	2.1+/-5.4	0,1,2191	98.0	90.0	92.0		574	3.3	1.0	15		92	0,8584		0,0,4292	no	missense	AQP9	NM_020980.3	29	0,1,6483	CC,CG,GG		0.0,0.0228,0.0077	benign	192/296	58471405	1,12967	2192	4292	6484	SO:0001583	missense	366				cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity	g.chr15:58471405G>C	AF016495	CCDS10165.1	15q	2005-09-20			ENSG00000103569	ENSG00000103569		"""Ion channels / Aquaporins"""	643	protein-coding gene	gene with protein product		602914					Standard	NM_020980		Approved	SSC1, HsT17287	uc002aez.2	O43315	OTTHUMG00000132631	ENST00000219919.4:c.574G>C	15.37:g.58471405G>C	ENSP00000219919:p.Glu192Gln					ALDH1A2_uc010ugw.1_Intron|AQP9_uc010ugx.1_Missense_Mutation_p.E127Q	p.E192Q	NM_020980	NP_066190	O43315	AQP9_HUMAN		GBM - Glioblastoma multiforme(80;0.16)	5	931	+			192			Helical; (Potential).		Q9NP32	Missense_Mutation	SNP	ENST00000219919.4	37	c.574G>C	CCDS10165.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.735504	0.30774	2.28E-4	0.0	ENSG00000103569	ENST00000219919;ENST00000536493	D;D	0.85171	-1.95;-1.95	6.17	3.26	0.37387	Aquaporin-like (2);	0.219005	0.39544	N	0.001335	T	0.77452	0.4132	N	0.17379	0.485	0.54753	D	0.999984	B	0.18166	0.026	B	0.26517	0.07	T	0.68138	-0.5488	10	0.40728	T	0.16	.	17.8439	0.88724	0.0:0.3636:0.6364:0.0	.	192	O43315	AQP9_HUMAN	Q	192	ENSP00000219919:E192Q;ENSP00000441390:E192Q	ENSP00000219919:E192Q	E	+	1	0	AQP9	56258697	1.000000	0.71417	0.995000	0.50966	0.424000	0.31475	4.147000	0.58078	0.455000	0.26910	-0.211000	0.12701	GAG		0.552	AQP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255878.2	NM_020980		14	65	0	0	0	0	14	65				
HERC1	8925	broad.mit.edu	37	15	64041644	64041644	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr15:64041644C>A	ENST00000443617.2	-	10	2228	c.2141G>T	c.(2140-2142)gGc>gTc	p.G714V		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	714					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						GCCATCTAAGCCACTCACTTT	0.428																																						uc002amp.2		NA																	0				ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						c.(2140-2142)GGC>GTC		hect domain and RCC1-like domain 1							217.0	199.0	205.0					15																	64041644		1883	4116	5999	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:64041644C>A	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.2141G>T	15.37:g.64041644C>A	ENSP00000390158:p.Gly714Val					HERC1_uc010uil.1_Intron	p.G714V	NM_003922	NP_003913	Q15751	HERC1_HUMAN			10	2289	-			714			RCC1 7.		Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.2141G>T	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.935107	0.92458	.	.	ENSG00000103657	ENST00000443617	D	0.85773	-2.03	5.89	5.89	0.94794	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.64402	U	0.000001	D	0.90621	0.7059	L	0.47190	1.495	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.90249	0.4292	10	0.59425	D	0.04	.	20.2576	0.98430	0.0:1.0:0.0:0.0	.	714	Q15751	HERC1_HUMAN	V	714	ENSP00000390158:G714V	ENSP00000390158:G714V	G	-	2	0	HERC1	61828697	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.783000	0.95769	0.655000	0.94253	GGC		0.428	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		74	128	1	0	6.64e-20	8.9e-20	74	128				
MSLN	10232	broad.mit.edu	37	16	815291	815291	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr16:815291G>A	ENST00000382862.3	+	8	787	c.692G>A	c.(691-693)gGa>gAa	p.G231E	MSLN_ENST00000566549.1_Missense_Mutation_p.G231E|MSLN_ENST00000545450.2_Missense_Mutation_p.G231E|MSLN_ENST00000563941.1_Missense_Mutation_p.G231E	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	231					cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				CAGGGCGGGGGACCCCCCTAC	0.692																																						uc002cjw.1		NA																	0				pancreas(1)	1						c.(691-693)GGA>GAA		mesothelin isoform 2 preproprotein							5.0	6.0	6.0					16																	815291		2004	4028	6032	SO:0001583	missense	10232				cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane		g.chr16:815291G>A	U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.692G>A	16.37:g.815291G>A	ENSP00000372313:p.Gly231Glu					MSLN_uc002cjt.1_Missense_Mutation_p.G231E|MSLN_uc002cju.1_Missense_Mutation_p.G231E|MSLN_uc010brd.1_Missense_Mutation_p.G230E|MSLN_uc002cjv.1_Missense_Mutation_p.G231E|MSLN_uc002cjx.1_Missense_Mutation_p.G231E|MSLN_uc002cjy.1_5'Flank	p.G231E	NM_013404	NP_037536	Q13421	MSLN_HUMAN			8	743	+		Hepatocellular(780;0.00335)	231					D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Missense_Mutation	SNP	ENST00000382862.3	37	c.692G>A	CCDS32356.1	.	.	.	.	.	.	.	.	.	.	G	0.094	-1.162918	0.01673	.	.	ENSG00000102854	ENST00000446427;ENST00000445361;ENST00000545450;ENST00000382862	T;T	0.11821	2.74;2.74	2.81	0.494	0.16884	.	1.512510	0.04407	U	0.365316	T	0.07188	0.0182	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.28820	0.187;0.224;0.187;0.187	B;B;B;B	0.26094	0.039;0.066;0.055;0.039	T	0.22661	-1.0210	10	0.02654	T	1	.	2.9603	0.05890	0.1937:0.2988:0.5075:0.0	.	230;231;231;231	Q13421-4;Q13421;Q13421-2;Q13421-3	.;MSLN_HUMAN;.;.	E	231	ENSP00000442965:G231E;ENSP00000372313:G231E	ENSP00000372313:G231E	G	+	2	0	MSLN	755292	0.000000	0.05858	0.006000	0.13384	0.013000	0.08279	-0.312000	0.08113	0.352000	0.24053	-0.257000	0.10917	GGA		0.692	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109253.2			6	6	0	0	0	0	6	6				
ADCY7	113	broad.mit.edu	37	16	50332901	50332901	+	Silent	SNP	G	G	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr16:50332901G>C	ENST00000394697.2	+	8	1375	c.1035G>C	c.(1033-1035)cgG>cgC	p.R345R	ADCY7_ENST00000537579.1_Silent_p.R345R|ADCY7_ENST00000564044.1_3'UTR|ADCY7_ENST00000538642.1_Silent_p.R345R|ADCY7_ENST00000254235.3_Silent_p.R345R|ADCY7_ENST00000566433.2_Silent_p.R345R			P51828	ADCY7_HUMAN	adenylate cyclase 7	345	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				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 ethanol (GO:0071361)|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)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|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)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		CCCACGCCCGGAACTGCGTGA	0.657																																						uc002egd.1		NA																	0				skin(1)	1						c.(1033-1035)CGG>CGC		adenylate cyclase 7	Bromocriptine(DB01200)						81.0	63.0	69.0					16																	50332901		2198	4300	6498	SO:0001819	synonymous_variant	113				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:50332901G>C	D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.1035G>C	16.37:g.50332901G>C						ADCY7_uc002egb.1_Silent_p.R345R|ADCY7_uc002egc.1_Silent_p.R345R	p.R345R	NM_001114	NP_001105	P51828	ADCY7_HUMAN		GBM - Glioblastoma multiforme(240;0.195)	7	1303	+		all_cancers(37;0.0127)	345			Cytoplasmic (Potential).|Guanylate cyclase 1.		A0AVA6	Silent	SNP	ENST00000394697.2	37	c.1035G>C	CCDS10741.1																																																																																				0.657	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3			19	81	0	0	0	0	19	81				
GPR114	221188	broad.mit.edu	37	16	57597828	57597828	+	Silent	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr16:57597828C>T	ENST00000340339.4	+	5	889	c.366C>T	c.(364-366)tgC>tgT	p.C122C	GPR114_ENST00000349457.3_Silent_p.C122C|GPR114_ENST00000394361.4_3'UTR	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	122					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						GGGACGCCTGCAAGACCCGCC	0.637																																						uc002elx.3		NA																	0				central_nervous_system(1)	1						c.(364-366)TGC>TGT		G protein-coupled receptor 114 precursor							49.0	53.0	52.0					16																	57597828		2198	4300	6498	SO:0001819	synonymous_variant	221188				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr16:57597828C>T	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.366C>T	16.37:g.57597828C>T						GPR114_uc010vhr.1_Silent_p.C122C|GPR114_uc002ely.2_Silent_p.C122C	p.C122C	NM_153837	NP_722579	Q8IZF4	GP114_HUMAN			5	451	+			122			Extracellular (Potential).		B3KXZ5|Q6ZMH7|Q6ZML4|Q86SL8|Q8IZ14	Silent	SNP	ENST00000340339.4	37	c.366C>T	CCDS10785.1																																																																																				0.637	GPR114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257336.3	NM_153837		41	106	0	0	0	0	41	106				
CDH11	1009	broad.mit.edu	37	16	65026867	65026867	+	Silent	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr16:65026867C>A	ENST00000268603.4	-	5	1209	c.594G>T	c.(592-594)gtG>gtT	p.V198V	CDH11_ENST00000566827.1_Silent_p.V72V|CDH11_ENST00000394156.3_Silent_p.V198V	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	198	Cadherin 2. {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)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GGATACTGTACACTAACTTGG	0.423			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												uc002eoi.2		NA		Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		0				lung(10)|ovary(3)|skin(1)	14						c.(592-594)GTG>GTT		cadherin 11, type 2 preproprotein							179.0	144.0	156.0					16																	65026867		2203	4300	6503	SO:0001819	synonymous_variant	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65026867C>A	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.594G>T	16.37:g.65026867C>A		TSP Lung(24;0.17)				CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Silent_p.V198V|CDH11_uc010vin.1_Silent_p.V72V	p.V198V	NM_001797	NP_001788	P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	5	1028	-		Ovarian(137;0.0973)	198			Cadherin 2.|Extracellular (Potential).		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Silent	SNP	ENST00000268603.4	37	c.594G>T	CCDS10803.1																																																																																				0.423	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		23	119	1	0	6.36e-07	7.48e-07	23	119				
CHTF8	54921	broad.mit.edu	37	16	69155027	69155027	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr16:69155027C>A	ENST00000448552.2	-	3	191	c.70G>T	c.(70-72)Ggg>Tgg	p.G24W	CHTF8_ENST00000519520.1_Intron|CHTF8_ENST00000523421.1_Missense_Mutation_p.G24W|CHTF8_ENST00000306585.6_5'UTR|CHTF8_ENST00000522091.1_Missense_Mutation_p.G24W|CHTF8_ENST00000518041.1_Missense_Mutation_p.G24W|CHTF8_ENST00000574807.1_5'Flank|CHTF8_ENST00000398235.2_Missense_Mutation_p.G24W|CHTF8_ENST00000520529.1_Intron	NM_001039690.3|NM_001040146.3	NP_001034779.1|NP_001035236.1	P0CG13	CTF8_HUMAN	CTF8, chromosome transmission fidelity factor 8 homolog (S. cerevisiae)	24					cell cycle (GO:0007049)|DNA replication (GO:0006260)	nucleus (GO:0005634)	DNA binding (GO:0003677)										TCGATCTCCCCCTGTAGCTCC	0.542																																						uc002ewn.1		NA																	0					0						c.(70-72)GGG>TGG		chromosome transmission fidelity factor 8							117.0	117.0	117.0					16																	69155027		1955	4151	6106	SO:0001583	missense	54921				cell cycle|DNA replication	nucleus	DNA binding	g.chr16:69155027C>A		CCDS42185.1	16q22.1	2009-01-14				ENSG00000168802			24353	protein-coding gene	gene with protein product		613202				12766176	Standard	NM_001039690		Approved	FLJ20400, CTF8, DERPC	uc002ewo.2	P0CG12		ENST00000448552.2:c.70G>T	16.37:g.69155027C>A	ENSP00000408367:p.Gly24Trp					CHTF8_uc002ewm.1_5'UTR|CHTF8_uc002ewo.1_Missense_Mutation_p.G5W|CHTF8_uc002ewp.1_Missense_Mutation_p.G24W	p.G24W	NM_001040146	NP_001035236	P0CG13	CTF8_HUMAN			3	171	-			24					A8MYX8|Q71E72|Q8NDH8|Q8WV66|Q9NX73	Missense_Mutation	SNP	ENST00000448552.2	37	c.70G>T	CCDS42185.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.5|27.5	4.839857|4.839857	0.91117|0.91117	.|.	.|.	ENSG00000168802|ENSG00000168802	ENST00000522497|ENST00000448552;ENST00000523421;ENST00000518041;ENST00000398235	.|.	.|.	.|.	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	.|.	.|.	.|.	.|.	D|D	0.86410|0.86410	0.5926|0.5926	M|M	0.91768|0.91768	3.24|3.24	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.88639|0.88639	0.3174|0.3174	5|8	.|0.87932	.|D	.|0	.|.	19.5968|19.5968	0.95544|0.95544	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|24	.|P0CG13	.|CTF8_HUMAN	V|W	46|24	.|.	.|ENSP00000381290:G24W	G|G	-|-	2|1	0|0	CHTF8|CHTF8	67712528|67712528	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	1.000000|1.000000	0.99986|0.99986	6.820000|6.820000	0.75267|0.75267	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GGG|GGG		0.542	CHTF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376352.2	NM_017804		36	253	1	0	6.97e-18	9.2e-18	36	253				
HYDIN	54768	broad.mit.edu	37	16	70863519	70863519	+	Splice_Site	SNP	A	A	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr16:70863519A>T	ENST00000393567.2	-	81	14263		c.e81+1			NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein						cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ACCTCAGTCTACCTGGTGCTT	0.567																																						uc002ezr.2		NA																	0				ovary(1)|skin(1)	2						c.e81+1		hydrocephalus inducing isoform a							55.0	58.0	57.0					16																	70863519		1933	4118	6051	SO:0001630	splice_region_variant	54768							g.chr16:70863519A>T	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.14112+1T>A	16.37:g.70863519A>T						HYDIN_uc010cfy.2_Splice_Site	p.Q4703_splice	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			81	14237	-		Ovarian(137;0.0654)						A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Splice_Site	SNP	ENST00000393567.2	37	c.14109_splice	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	A	19.51	3.840521	0.71488	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3828	0.66923	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HYDIN	69421020	1.000000	0.71417	0.987000	0.45799	0.927000	0.56198	7.044000	0.76578	1.882000	0.54519	0.414000	0.27820	.		0.567	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		Intron	13	61	0	0	0	0	13	61				
ZFPM1	161882	broad.mit.edu	37	16	88552448	88552448	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr16:88552448G>A	ENST00000319555.3	+	2	464	c.142G>A	c.(142-144)Gca>Aca	p.A48T	ZFPM1_ENST00000569086.1_3'UTR	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	48					atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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 transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		CCCTCCCAGCGCAGGTGAGTC	0.642																																					Pancreas(49;850 1106 29641 32847 38344)	uc002fkv.2		NA																	0				central_nervous_system(1)	1						c.(142-144)GCA>ACA		zinc finger protein, multitype 1							49.0	44.0	46.0					16																	88552448		2189	4298	6487	SO:0001583	missense	161882				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding	g.chr16:88552448G>A	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	19762	protein-coding gene	gene with protein product		601950	"""zinc finger protein, multitype 1"""				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.142G>A	16.37:g.88552448G>A	ENSP00000326630:p.Ala48Thr						p.A48T	NM_153813	NP_722520	Q8IX07	FOG1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0478)	2	175	+			48						Missense_Mutation	SNP	ENST00000319555.3	37	c.142G>A	CCDS32502.1	.	.	.	.	.	.	.	.	.	.	G	1.584	-0.530775	0.04112	.	.	ENSG00000179588	ENST00000319555	T	0.07021	3.23	3.77	-4.98	0.03019	.	2.275110	0.03538	U	0.223476	T	0.02193	0.0068	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36480	-0.9746	10	0.02654	T	1	0.2004	3.3204	0.07048	0.2648:0.1346:0.49:0.1106	.	48	Q8IX07	FOG1_HUMAN	T	48	ENSP00000326630:A48T	ENSP00000326630:A48T	A	+	1	0	ZFPM1	87079949	0.000000	0.05858	0.040000	0.18447	0.037000	0.13140	-2.312000	0.01127	-0.942000	0.03695	-0.752000	0.03492	GCA		0.642	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			7	33	0	0	0	0	7	33				
PER1	5187	broad.mit.edu	37	17	8044393	8044393	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr17:8044393G>A	ENST00000317276.4	-	23	4103	c.3866C>T	c.(3865-3867)aCc>aTc	p.T1289I	PER1_ENST00000578089.1_5'Flank|PER1_ENST00000581082.1_Missense_Mutation_p.T1266I	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	1289	CRY binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						AGTCTAGCTGGTGCAGTTTCC	0.542			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																														uc002gkd.2		NA		Dom	yes		17	17p13.1-17p12	5187	T	period homolog 1 (Drosophila)			L	ETV6		AML|CMML		0				lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1)	9						c.(3865-3867)ACC>ATC	Other_conserved_DNA_damage_response_genes	period 1							141.0	140.0	141.0					17																	8044393		2203	4300	6503	SO:0001583	missense	5187				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr17:8044393G>A	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.3866C>T	17.37:g.8044393G>A	ENSP00000314420:p.Thr1289Ile					PER1_uc010cns.2_Missense_Mutation_p.T163I|PER1_uc010vuq.1_RNA	p.T1289I	NM_002616	NP_002607	O15534	PER1_HUMAN			23	4104	-			1289			CRY binding domain (By similarity).		B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	ENST00000317276.4	37	c.3866C>T	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	G	11.45	1.641317	0.29157	.	.	ENSG00000179094	ENST00000317276	T	0.13420	2.59	4.97	3.95	0.45737	.	0.225469	0.29707	N	0.011410	T	0.08582	0.0213	N	0.14661	0.345	0.80722	D	1	P;P	0.48911	0.535;0.917	B;B	0.41135	0.084;0.348	T	0.07121	-1.0789	10	0.72032	D	0.01	-15.7094	10.6496	0.45640	0.0:0.0:0.8099:0.1901	.	1280;1289	A2I2P6;O15534	.;PER1_HUMAN	I	1289	ENSP00000314420:T1289I	ENSP00000314420:T1289I	T	-	2	0	PER1	7985118	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	3.079000	0.50104	2.583000	0.87209	0.491000	0.48974	ACC		0.542	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			7	297	0	0	0	0	7	297				
AURKB	9212	broad.mit.edu	37	17	8111074	8111074	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr17:8111074A>G	ENST00000585124.1	-	3	226	c.133T>C	c.(133-135)Tcc>Ccc	p.S45P	AURKB_ENST00000578549.1_Missense_Mutation_p.S45P|AURKB_ENST00000316199.6_Missense_Mutation_p.S45P|AURKB_ENST00000535053.1_Missense_Mutation_p.S45P|AURKB_ENST00000534871.1_Missense_Mutation_p.S4P	NM_004217.3	NP_004208.2	Q96GD4	AURKB_HUMAN	aurora kinase B	45					abscission (GO:0009838)|aging (GO:0007568)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|attachment of spindle microtubules to kinetochore (GO:0008608)|cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|cleavage furrow formation (GO:0036089)|cytokinesis checkpoint (GO:0031565)|histone H3-S28 phosphorylation (GO:0043988)|histone modification (GO:0016570)|mitotic cell cycle (GO:0000278)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytokinesis (GO:0032467)|protein autophosphorylation (GO:0046777)|protein localization to kinetochore (GO:0034501)|protein phosphorylation (GO:0006468)|regulation of chromosome segregation (GO:0051983)|spindle checkpoint (GO:0031577)|spindle midzone assembly involved in mitosis (GO:0051256)|spindle stabilization (GO:0043146)	chromocenter (GO:0010369)|chromosome passenger complex (GO:0032133)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(1)|central_nervous_system(1)|lung(2)	4						TGGACATTGGAGCGGCTCATG	0.612																																					NSCLC(134;1161 2470 43664 51568)	uc002gkm.2		NA																	0				lung(2)|breast(1)|central_nervous_system(1)	4						c.(133-135)TCC>CCC		aurora kinase B							108.0	95.0	100.0					17																	8111074		2203	4300	6503	SO:0001583	missense	9212				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore	chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:8111074A>G	AF004022	CCDS11134.1, CCDS58514.1, CCDS67162.1	17p13.1	2013-01-17	2003-07-21	2003-07-23	ENSG00000178999	ENSG00000178999		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	11390	protein-coding gene	gene with protein product	"""aurora-B"", ""aurora-1"", ""protein phosphatase 1, regulatory subunit 48"""	604970	"""serine/threonine kinase 12"""	STK12		9858806	Standard	NM_001256834		Approved	Aik2, IPL1, AurB, AIM-1, ARK2, STK5, PPP1R48	uc002gkm.4	Q96GD4	OTTHUMG00000108189	ENST00000585124.1:c.133T>C	17.37:g.8111074A>G	ENSP00000463999:p.Ser45Pro					AURKB_uc010cnu.2_5'UTR|AURKB_uc002gkn.2_Missense_Mutation_p.S45P|AURKB_uc010vuu.1_Missense_Mutation_p.S4P|AURKB_uc002gko.2_RNA	p.S45P	NM_004217	NP_004208	Q96GD4	AURKB_HUMAN			3	194	-			45					B4DNM4|C7G533|C7G534|C7G535|D3DTR4|J9JID1|O14630|O60446|O95083|Q96DV5|Q9UQ46	Missense_Mutation	SNP	ENST00000585124.1	37	c.133T>C	CCDS11134.1	.	.	.	.	.	.	.	.	.	.	A	11.60	1.687862	0.29962	.	.	ENSG00000178999	ENST00000316199;ENST00000534871;ENST00000535053	T;T;T	0.71461	-0.54;-0.57;2.13	5.02	0.0999	0.14510	.	0.589402	0.15693	N	0.249355	T	0.48502	0.1503	L	0.27053	0.805	0.21527	N	0.999659	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.30650	-0.9971	10	0.44086	T	0.13	-1.6566	1.0002	0.01475	0.521:0.1642:0.1563:0.1586	.	45;45	C7G533;Q96GD4	.;AURKB_HUMAN	P	45;4;45	ENSP00000313950:S45P;ENSP00000443869:S4P;ENSP00000445866:S45P	ENSP00000313950:S45P	S	-	1	0	AURKB	8051799	1.000000	0.71417	0.993000	0.49108	0.926000	0.56050	0.694000	0.25512	-0.175000	0.10725	0.459000	0.35465	TCC		0.612	AURKB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000226995.2	NM_004217		16	48	0	0	0	0	16	48				
MYO15A	51168	broad.mit.edu	37	17	18046140	18046140	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr17:18046140C>G	ENST00000205890.5	+	25	6234	c.5896C>G	c.(5896-5898)Cga>Gga	p.R1966G		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1966	IQ 3. {ECO:0000255|PROSITE- ProRule:PRU00116}.|Neck or regulatory domain.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CGTGAGCCGCCGACGCTATCT	0.582																																						uc010vxh.1		NA																	0				skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9						c.(5896-5898)CGA>GGA		myosin XV							40.0	44.0	43.0					17																	18046140		1995	4162	6157	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18046140C>G	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.5896C>G	17.37:g.18046140C>G	ENSP00000205890:p.Arg1966Gly						p.R1966G	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN			24	6234	+	all_neural(463;0.228)		1966			IQ 3.|Neck or regulatory domain.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.5896C>G	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.033065	0.35893	.	.	ENSG00000091536	ENST00000205890	D	0.89415	-2.51	5.12	4.09	0.47781	.	.	.	.	.	D	0.83151	0.5192	L	0.29908	0.895	0.80722	D	1	P	0.44877	0.845	B	0.40285	0.325	D	0.85810	0.1379	9	0.72032	D	0.01	.	13.8888	0.63726	0.1513:0.8487:0.0:0.0	.	1966	Q9UKN7	MYO15_HUMAN	G	1966	ENSP00000205890:R1966G	ENSP00000205890:R1966G	R	+	1	2	MYO15A	17986865	0.939000	0.31865	0.995000	0.50966	0.327000	0.28475	1.034000	0.30204	2.537000	0.85549	0.655000	0.94253	CGA		0.582	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		4	33	0	0	0	0	4	33				
MIEF2	125170	broad.mit.edu	37	17	18166425	18166425	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr17:18166425G>T	ENST00000323019.4	+	3	384	c.173G>T	c.(172-174)cGg>cTg	p.R58L	MIEF2_ENST00000395706.2_Missense_Mutation_p.R69L|MIEF2_ENST00000395704.4_Missense_Mutation_p.R58L|MIEF2_ENST00000577216.1_Intron|MIEF2_ENST00000578621.1_Missense_Mutation_p.R58L|MIEF2_ENST00000395703.4_Missense_Mutation_p.R58L|MIEF2_ENST00000578174.1_Missense_Mutation_p.R58L	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	MID49_HUMAN	mitochondrial elongation factor 2	58					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)											ACTAGCCCGCGGGATGAGGAT	0.577																																						uc002gst.2		NA																	0					0						c.(172-174)CGG>CTG		Smith-Magenis syndrome chromosome region,							83.0	75.0	78.0					17																	18166425		2202	4300	6502	SO:0001583	missense	125170					integral to membrane	protein binding	g.chr17:18166425G>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.173G>T	17.37:g.18166425G>T	ENSP00000323591:p.Arg58Leu					SMCR7_uc002gsu.2_Missense_Mutation_p.R58L|SMCR7_uc010vxq.1_Missense_Mutation_p.R69L	p.R58L	NM_139162	NP_631901	Q96C03	SMCR7_HUMAN			3	384	+	all_neural(463;0.228)		58					J3KPT3|Q6ZRD4|Q96N07	Missense_Mutation	SNP	ENST00000323019.4	37	c.173G>T	CCDS11193.1	.	.	.	.	.	.	.	.	.	.	G	8.505	0.865273	0.17250	.	.	ENSG00000177427	ENST00000323019;ENST00000395704;ENST00000395703;ENST00000395706	T;T;T;T	0.29397	2.76;1.57;1.57;2.76	4.63	-4.71	0.03279	.	0.310732	0.27951	N	0.017197	T	0.21267	0.0512	L	0.47716	1.5	0.09310	N	1	B;P;B	0.35226	0.275;0.491;0.18	B;B;B	0.38500	0.098;0.275;0.027	T	0.16988	-1.0384	10	0.37606	T	0.19	-13.3468	6.7154	0.23300	0.3508:0.3029:0.3464:0.0	.	58;58;58	A8MT25;Q96C03-2;Q96C03	.;.;MID49_HUMAN	L	58;58;58;69	ENSP00000323591:R58L;ENSP00000379056:R58L;ENSP00000379055:R58L;ENSP00000379057:R69L	ENSP00000323591:R58L	R	+	2	0	SMCR7	18107150	0.000000	0.05858	0.000000	0.03702	0.290000	0.27261	-0.039000	0.12124	-0.424000	0.07382	-1.165000	0.01757	CGG		0.577	MIEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132060.2	NM_139162		16	116	1	0	2.39e-15	3.09e-15	16	116				
RNF112	7732	broad.mit.edu	37	17	19315865	19315865	+	Silent	SNP	G	G	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr17:19315865G>T	ENST00000461366.1	+	3	365	c.150G>T	c.(148-150)gcG>gcT	p.A50A	CTB-187M2.2_ENST00000579897.1_RNA|RNF112_ENST00000580109.1_3'UTR	NM_007148.4	NP_009079.2	Q9ULX5	RN112_HUMAN	ring finger protein 112	50						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						AGCCCATGGCGCCCCGGGAGC	0.617																																						uc010vyw.1		NA																	0				ovary(2)	2						c.(148-150)GCG>GCT		ring finger protein 112							40.0	40.0	40.0					17																	19315865		1916	4125	6041	SO:0001819	synonymous_variant	7732						GTP binding|GTPase activity|zinc ion binding	g.chr17:19315865G>T	AF054587	CCDS58529.1	17p11.2	2013-01-16	2008-06-13	2008-06-13	ENSG00000128482	ENSG00000128482		"""RING-type (C3HC4) zinc fingers"""	12968	protein-coding gene	gene with protein product		601237	"""zinc finger protein 179"""	ZNF179		8660987, 9806830	Standard	NM_007148		Approved	BFP	uc010vyw.2	Q9ULX5	OTTHUMG00000059601	ENST00000461366.1:c.150G>T	17.37:g.19315865G>T						RNF112_uc010vyu.1_Silent_p.A50A|RNF112_uc010vyv.1_Silent_p.A50A|RNF112_uc010vyx.1_Silent_p.A2A	p.A50A	NM_007148	NP_009079	Q7Z5V9	Q7Z5V9_HUMAN			3	349	+			50					O60633|Q7Z5V9	Silent	SNP	ENST00000461366.1	37	c.150G>T	CCDS58529.1																																																																																				0.617	RNF112-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132549.4	NM_007148		9	42	1	0	4.69e-08	5.55e-08	9	42				
BLMH	642	broad.mit.edu	37	17	28601109	28601109	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr17:28601109A>T	ENST00000261714.6	-	7	926	c.752T>A	c.(751-753)tTg>tAg	p.L251*	BLMH_ENST00000582669.1_5'UTR|BLMH_ENST00000394819.3_Nonsense_Mutation_p.L164*	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN	bleomycin hydrolase	251					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|carboxypeptidase activity (GO:0004180)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13					Bleomycin(DB00290)	GTAAAACTCCAAGGGTGTTAT	0.428																																					Pancreas(127;628 1772 12912 33293 36203)	uc002hez.1		NA																	0				ovary(1)	1						c.(751-753)TTG>TAG		bleomycin hydrolase							125.0	116.0	119.0					17																	28601109		2203	4300	6503	SO:0001587	stop_gained	642				proteolysis	cytoplasm|nucleus	aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding	g.chr17:28601109A>T	X92106	CCDS32604.1	17q11.2	2004-02-16				ENSG00000108578			1059	protein-coding gene	gene with protein product		602403				9407121, 9331073	Standard	NM_000386		Approved	BH	uc002hez.2	Q13867		ENST00000261714.6:c.752T>A	17.37:g.28601109A>T	ENSP00000261714:p.Leu251*					BLMH_uc010wbn.1_Nonsense_Mutation_p.L164*	p.L251*	NM_000386	NP_000377	Q13867	BLMH_HUMAN			7	989	-			251					B2R796|Q53F86|Q9UER9	Nonsense_Mutation	SNP	ENST00000261714.6	37	c.752T>A	CCDS32604.1	.	.	.	.	.	.	.	.	.	.	A	36	5.637002	0.96693	.	.	ENSG00000108578	ENST00000261714;ENST00000394819	.	.	.	5.91	5.91	0.95273	.	0.260709	0.38663	N	0.001607	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-17.4038	10.7221	0.46046	0.858:0.0:0.0:0.142	.	.	.	.	X	251;164	.	ENSP00000261714:L251X	L	-	2	0	BLMH	25625235	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.508000	0.53378	2.261000	0.74972	0.533000	0.62120	TTG		0.428	BLMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447940.1	NM_000386		39	126	0	0	0	0	39	126				
TMEM98	26022	broad.mit.edu	37	17	31267870	31267870	+	Silent	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr17:31267870G>A	ENST00000579849.1	+	8	971	c.540G>A	c.(538-540)acG>acA	p.T180T	TMEM98_ENST00000578289.1_Intron|TMEM98_ENST00000394642.3_Silent_p.T180T	NM_015544.2	NP_056359.2	Q9Y2Y6	TMM98_HUMAN	transmembrane protein 98	180						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(2)|large_intestine(1)	3		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)			GCCATCTGACGGGAGGCCTGG	0.547																																						uc002hhq.2		NA																	0					0						c.(538-540)ACG>ACA		transmembrane protein 98							96.0	94.0	94.0					17																	31267870		2203	4300	6503	SO:0001819	synonymous_variant	26022					endoplasmic reticulum|integral to membrane		g.chr17:31267870G>A	CR605381	CCDS11274.1	17q11.2	2005-12-16			ENSG00000006042	ENSG00000006042			24529	protein-coding gene	gene with protein product		615949				11230166	Standard	NM_001301746		Approved	DKFZP564K1964	uc002hhr.3	Q9Y2Y6	OTTHUMG00000132882	ENST00000579849.1:c.540G>A	17.37:g.31267870G>A						TMEM98_uc002hhr.2_Silent_p.T180T	p.T180T	NM_015544	NP_056359	Q9Y2Y6	TMM98_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0769)		8	998	+		Ovarian(249;0.182)|Breast(31;0.244)	180					E1P631|Q9UFK2	Silent	SNP	ENST00000579849.1	37	c.540G>A	CCDS11274.1																																																																																				0.547	TMEM98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256372.2	NM_015544		32	144	0	0	0	0	32	144				
CCL16	6360	broad.mit.edu	37	17	34308415	34308415	+	Silent	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr17:34308415G>A	ENST00000293275.3	-	1	117	c.42C>T	c.(40-42)atC>atT	p.I14I		NM_004590.2	NP_004581.1	O15467	CCL16_HUMAN	chemokine (C-C motif) ligand 16	14					cell chemotaxis (GO:0060326)|cell communication (GO:0007154)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive chemotaxis (GO:0050918)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemoattractant activity (GO:0042056)|chemokine activity (GO:0008009)			endometrium(1)|lung(2)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TAATGATAAGGATGAGGACAA	0.557																																						uc002hkl.2		NA																	0					0						c.(40-42)ATC>ATT		small inducible cytokine A16 precursor							74.0	56.0	62.0					17																	34308415		2203	4300	6503	SO:0001819	synonymous_variant	6360				cell-cell signaling|immune response|inflammatory response	extracellular space	chemoattractant activity|chemokine activity	g.chr17:34308415G>A	AB007454	CCDS11303.1	17q11.2	2014-05-06	2002-08-22	2002-08-23	ENSG00000161573	ENSG00000275152		"""Chemokine ligands"", ""Endogenous ligands"""	10614	protein-coding gene	gene with protein product		601394	"""small inducible cytokine subfamily A (Cys-Cys), member 16"""	SCYA16		8661057	Standard	NM_004590		Approved	NCC-4, SCYL4, LEC, HCC-4, LMC, LCC-1, CKb12, Mtn-1	uc002hkl.3	O15467	OTTHUMG00000188402	ENST00000293275.3:c.42C>T	17.37:g.34308415G>A						CCL16_uc002hkm.2_RNA	p.I14I	NM_004590	NP_004581	O15467	CCL16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	1	109	-		Ovarian(249;0.17)	14					Q4KKU0	Silent	SNP	ENST00000293275.3	37	c.42C>T	CCDS11303.1																																																																																				0.557	CCL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256579.1	NM_004590		8	31	0	0	0	0	8	31				
BRCA1	672	broad.mit.edu	37	17	41246660	41246660	+	Silent	SNP	T	T	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr17:41246660T>C	ENST00000357654.3	-	10	1006	c.888A>G	c.(886-888)agA>agG	p.R296R	BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000346315.3_Silent_p.R296R|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000493795.1_Silent_p.R249R|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000354071.3_Silent_p.R296R|BRCA1_ENST00000471181.2_Silent_p.R296R|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000309486.4_5'UTR	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	296					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CTACATTCATTCTGTCTTTAG	0.408			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												uc002icq.2		NA	yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	D|Mis|N|F|S	familial breast/ovarian cancer gene 1			E		breast|ovarian	ovarian		0				ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52						c.(886-888)AGA>AGG	Homologous_recombination	breast cancer 1, early onset isoform 1							146.0	132.0	137.0					17																	41246660		2203	4300	6503	SO:0001819	synonymous_variant	672	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41246660T>C	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.888A>G	17.37:g.41246660T>C		TCGA Ovarian(2;0.000030)				BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Silent_p.R225R|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Silent_p.R249R|BRCA1_uc002ict.2_Silent_p.R296R|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Silent_p.R296R|BRCA1_uc002ide.1_Silent_p.R127R|BRCA1_uc010cyy.1_Silent_p.R296R|BRCA1_uc010whs.1_Silent_p.R296R|BRCA1_uc010cyz.2_Silent_p.R249R|BRCA1_uc010cza.2_Silent_p.R270R|BRCA1_uc010wht.1_5'UTR	p.R296R	NM_007294	NP_009225	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	10	1120	-		Breast(137;0.000717)	296					O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Silent	SNP	ENST00000357654.3	37	c.888A>G	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	T	7.452	0.642836	0.14451	.	.	ENSG00000012048	ENST00000473961	.	.	.	4.95	2.53	0.30540	.	.	.	.	.	T	0.54481	0.1861	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48758	-0.9007	4	.	.	.	.	6.4569	0.21934	0.0:0.0804:0.2999:0.6196	.	.	.	.	G	162	.	.	E	-	2	0	BRCA1	38500186	1.000000	0.71417	0.992000	0.48379	0.978000	0.69477	0.991000	0.29654	0.982000	0.38575	0.533000	0.62120	GAA		0.408	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		52	145	0	0	0	0	52	145				
COL1A1	1277	broad.mit.edu	37	17	48278851	48278851	+	Silent	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr17:48278851C>A	ENST00000225964.5	-	1	142	c.24G>T	c.(22-24)cgG>cgT	p.R8R		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	8					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	GGAGCAGGAGCCGGAGGTCCA	0.592			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																															uc002iqm.2		NA		Dom	yes		17	17q21.31-q22	1277	T	"""collagen, type I, alpha 1"""	yes	Osteogenesis imperfecta	M	PDGFB|USP6		dermatofibrosarcoma protuberans|aneurysmal bone cyst 	COL1A1/PDGFB(372)	0				soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382						c.(22-24)CGG>CGT		alpha 1 type I collagen preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						65.0	55.0	58.0					17																	48278851		2203	4300	6503	SO:0001819	synonymous_variant	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48278851C>A	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.24G>T	17.37:g.48278851C>A							p.R8R	NM_000088	NP_000079	P02452	CO1A1_HUMAN			1	150	-			8					O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Silent	SNP	ENST00000225964.5	37	c.24G>T	CCDS11561.1																																																																																				0.592	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			9	52	1	0	0.00448238	0.00487746	9	52				
MPO	4353	broad.mit.edu	37	17	56348209	56348209	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr17:56348209G>C	ENST00000225275.3	-	12	2222	c.2046C>G	c.(2044-2046)aaC>aaG	p.N682K	MPO_ENST00000340482.3_Missense_Mutation_p.N714K	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	682					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	ACACACCCTCGTTCTCCCACC	0.577																																						uc002ivu.1		NA																	0				ovary(2)|large_intestine(1)|pancreas(1)	4						c.(2044-2046)AAC>AAG		myeloperoxidase	Cefdinir(DB00535)						158.0	126.0	137.0					17																	56348209		2203	4300	6503	SO:0001583	missense	4353				anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	g.chr17:56348209G>C		CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.2046C>G	17.37:g.56348209G>C	ENSP00000225275:p.Asn682Lys						p.N682K	NM_000250	NP_000241	P05164	PERM_HUMAN			12	2223	-			682					A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	ENST00000225275.3	37	c.2046C>G	CCDS11604.1	.	.	.	.	.	.	.	.	.	.	G	6.252	0.414695	0.11870	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.75821	-0.97;-0.97	5.63	3.31	0.37934	.	0.329786	0.36932	N	0.002330	T	0.66896	0.2836	M	0.61703	1.905	0.26003	N	0.98209	B	0.25007	0.116	B	0.21708	0.036	T	0.59247	-0.7490	10	0.41790	T	0.15	-32.4437	7.3911	0.26911	0.2145:0.1374:0.6481:0.0	.	682	P05164	PERM_HUMAN	K	714;682	ENSP00000344419:N714K;ENSP00000225275:N682K	ENSP00000225275:N682K	N	-	3	2	MPO	53703208	0.000000	0.05858	0.871000	0.34182	0.121000	0.20230	-0.130000	0.10498	1.382000	0.46385	-0.251000	0.11542	AAC		0.577	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			7	109	0	0	0	0	7	109				
HELZ	9931	broad.mit.edu	37	17	65174991	65174991	+	Missense_Mutation	SNP	C	C	A	rs374896136		TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr17:65174991C>A	ENST00000358691.5	-	13	1380	c.1214G>T	c.(1213-1215)cGt>cTt	p.R405L	HELZ_ENST00000580168.1_Missense_Mutation_p.R405L	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	405						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AGAATCCCAACGTTTAGCTGT	0.348																																						uc010wqk.1		NA																	0				ovary(1)|pancreas(1)	2						c.(1213-1215)CGT>CTT		helicase with zinc finger domain							107.0	104.0	105.0					17																	65174991		1831	4087	5918	SO:0001583	missense	9931							g.chr17:65174991C>A	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.1214G>T	17.37:g.65174991C>A	ENSP00000351524:p.Arg405Leu					HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.R405L	p.R405L	NM_014877	NP_055692					13	1401	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	c.1214G>T	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.415862	0.62511	.	.	ENSG00000198265	ENST00000358691;ENST00000417253	D;T	0.85258	-1.96;1.21	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.89955	0.6865	L	0.44542	1.39	0.80722	D	1	D;P	0.89917	1.0;0.631	D;B	0.68039	0.955;0.278	D	0.88754	0.3252	10	0.49607	T	0.09	-16.4745	20.6525	0.99598	0.0:1.0:0.0:0.0	.	405;405	B7ZLW2;P42694	.;HELZ_HUMAN	L	405	ENSP00000351524:R405L;ENSP00000411144:R405L	ENSP00000351524:R405L	R	-	2	0	HELZ	62605453	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.385000	0.79763	2.890000	0.99128	0.585000	0.79938	CGT		0.348	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		17	141	1	0	1.34e-09	1.62e-09	17	141				
KLHL14	57565	broad.mit.edu	37	18	30254696	30254696	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr18:30254696C>T	ENST00000359358.4	-	9	2249	c.1811G>A	c.(1810-1812)gGa>gAa	p.G604E		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	604						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						TGCTACATCTCCTTCGAGTTC	0.468																																						uc002kxm.1		NA																	0				ovary(1)	1						c.(1810-1812)GGA>GAA		kelch-like 14							205.0	198.0	200.0					18																	30254696		2203	4300	6503	SO:0001583	missense	57565					cytosol|endoplasmic reticulum membrane		g.chr18:30254696C>T	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"""Kelch-like"", ""BTB/POZ domain containing"""	29266	protein-coding gene	gene with protein product	"""printor"""	613772	"""kelch-like 14 (Drosophila)"""			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.1811G>A	18.37:g.30254696C>T	ENSP00000352314:p.Gly604Glu					KLHL14_uc010dmd.1_Missense_Mutation_p.G153E	p.G604E	NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN			9	2199	-			604			Kelch 6.		A6NNW1|B4DHA0|Q8WU41	Missense_Mutation	SNP	ENST00000359358.4	37	c.1811G>A	CCDS32813.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.712817	0.68730	.	.	ENSG00000197705	ENST00000359358	T	0.67865	-0.29	5.65	5.65	0.86999	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.72875	0.3515	N	0.22421	0.69	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.69401	-0.5155	10	0.29301	T	0.29	.	20.0919	0.97823	0.0:1.0:0.0:0.0	.	604	Q9P2G3	KLH14_HUMAN	E	604	ENSP00000352314:G604E	ENSP00000352314:G604E	G	-	2	0	KLHL14	28508694	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	7.434000	0.80377	2.810000	0.96702	0.650000	0.86243	GGA		0.468	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			74	174	0	0	0	0	74	174				
ZNF516	9658	broad.mit.edu	37	18	74154630	74154630	+	Silent	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr18:74154630C>A	ENST00000443185.2	-	3	698	c.381G>T	c.(379-381)ctG>ctT	p.L127L	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	127					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CCCCGTTCAGCAGCCGGTTGC	0.751																																						uc010dqx.1		NA																	0				ovary(1)	1						c.(379-381)CTG>CTT		zinc finger protein 516							4.0	5.0	5.0					18																	74154630		1622	3674	5296	SO:0001819	synonymous_variant	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74154630C>A	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.381G>T	18.37:g.74154630C>A						ZNF516_uc002lme.2_RNA	p.L127L	NM_014643	NP_055458	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	2	616	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	127						Silent	SNP	ENST00000443185.2	37	c.381G>T																																																																																					0.751	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		5	6	1	0	5.18e-06	5.99e-06	5	6				
ZNF14	7561	broad.mit.edu	37	19	19822314	19822314	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr19:19822314A>T	ENST00000344099.3	-	4	1914	c.1776T>A	c.(1774-1776)tgT>tgA	p.C592*		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	592					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				AGGCTTTCCCACATTGTTTAC	0.383																																						uc002nnk.1		NA																	0				ovary(3)	3						c.(1774-1776)TGT>TGA		zinc finger protein 14							70.0	71.0	71.0					19																	19822314		2203	4300	6503	SO:0001587	stop_gained	7561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:19822314A>T	AA286756	CCDS12409.1	19p13.11	2013-01-08	2006-05-10					"""Zinc fingers, C2H2-type"", ""-"""	12924	protein-coding gene	gene with protein product		194556	"""zinc finger protein 14 (KOX 6)"""				Standard	NM_021030		Approved	KOX6, GIOT-4	uc002nnk.1	P17017		ENST00000344099.3:c.1776T>A	19.37:g.19822314A>T	ENSP00000340514:p.Cys592*						p.C592*	NM_021030	NP_066358	P17017	ZNF14_HUMAN			4	1930	-		Renal(1328;0.0474)	592			C2H2-type 18.		B9EGA4|Q9ULZ5	Nonsense_Mutation	SNP	ENST00000344099.3	37	c.1776T>A	CCDS12409.1	.	.	.	.	.	.	.	.	.	.	A	38	7.169047	0.98111	.	.	ENSG00000105708	ENST00000344099	.	.	.	1.8	0.661	0.17874	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.0826	0.14664	0.7375:0.0:0.0:0.2625	.	.	.	.	X	592	.	ENSP00000340514:C592X	C	-	3	2	ZNF14	19683314	1.000000	0.71417	0.002000	0.10522	0.972000	0.66771	1.146000	0.31589	-0.039000	0.13602	0.383000	0.25322	TGT		0.383	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460775.1	NM_021030		50	74	0	0	0	0	50	74				
NUP62	23636	broad.mit.edu	37	19	50412642	50412642	+	Silent	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr19:50412642C>T	ENST00000596217.1	-	2	2310	c.423G>A	c.(421-423)gtG>gtA	p.V141V	NUP62_ENST00000413454.1_Silent_p.V141V|NUP62_ENST00000422090.2_Silent_p.V141V|NUP62_ENST00000352066.3_Silent_p.V141V|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000597723.1_Silent_p.V141V|NUP62_ENST00000600583.1_5'Flank|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000597029.1_Silent_p.V141V			P37198	NUP62_HUMAN	nucleoporin 62kDa	141	15 X 9 AA approximate repeats.|Thr-rich.				carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|hormone-mediated signaling pathway (GO:0009755)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of programmed cell death (GO:0043069)|negative regulation of Ras protein signal transduction (GO:0046580)|nucleocytoplasmic transport (GO:0006913)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of Ras protein signal transduction (GO:0046578)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleocytoplasmic shuttling complex (GO:0031074)|pore complex (GO:0046930)|ribonucleoprotein complex (GO:0030529)	chromatin binding (GO:0003682)|receptor signaling complex scaffold activity (GO:0030159)|SH2 domain binding (GO:0042169)|structural constituent of nuclear pore (GO:0017056)|thyroid hormone receptor binding (GO:0046966)|ubiquitin binding (GO:0043130)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AGGGGCCAAACACAAAGCCGG	0.602																																						uc002pqx.2		NA																	0					0						c.(421-423)GTG>GTA		nucleoporin 62kDa							52.0	58.0	56.0					19																	50412642		2203	4300	6503	SO:0001819	synonymous_variant	23636				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding	g.chr19:50412642C>T	X58521	CCDS12788.1	19q13.33	2013-09-20	2002-08-29		ENSG00000213024	ENSG00000213024			8066	protein-coding gene	gene with protein product	"""nuclear pore glycoprotein p62"""	605815	"""nucleoporin 62kD"""			1915414	Standard	NM_016553		Approved	p62, DKFZp547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869	uc002pqx.3	P37198	OTTHUMG00000183077	ENST00000596217.1:c.423G>A	19.37:g.50412642C>T						IL4I1_uc002pqv.1_Intron|IL4I1_uc010eno.1_Intron|IL4I1_uc002pqw.1_Intron|IL4I1_uc002pqu.1_Intron|NUP62_uc002pqy.2_Silent_p.V141V|NUP62_uc002pqz.2_Silent_p.V141V|NUP62_uc002pra.2_Silent_p.V141V|NUP62_uc002prb.2_Silent_p.V141V|NUP62_uc002prc.2_Silent_p.V141V	p.V141V	NM_153719	NP_714941	P37198	NUP62_HUMAN		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	2	527	-		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)	141			15 X 9 AA approximate repeats.|Thr-rich.|9.		B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	Silent	SNP	ENST00000596217.1	37	c.423G>A	CCDS12788.1																																																																																				0.602	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464991.1	NM_153719		11	108	0	0	0	0	11	108				
LRRC4B	94030	broad.mit.edu	37	19	51020919	51020919	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr19:51020919C>A	ENST00000599957.1	-	3	2248	c.2051G>T	c.(2050-2052)gGg>gTg	p.G684V	LRRC4B_ENST00000389201.3_Missense_Mutation_p.G684V|ASPDH_ENST00000376916.3_5'Flank|ASPDH_ENST00000597030.1_5'Flank			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	684					positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GCCTTTGCCCCCGCAGCCCCC	0.672																																						uc002pss.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(2050-2052)GGG>GTG		leucine rich repeat containing 4B precursor							25.0	29.0	28.0					19																	51020919		1917	4118	6035	SO:0001583	missense	94030					cell junction|integral to membrane|presynaptic membrane		g.chr19:51020919C>A	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.2051G>T	19.37:g.51020919C>A	ENSP00000471502:p.Gly684Val					ASPDH_uc002psr.3_5'Flank	p.G684V	NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)	3	2188	-		all_neural(266;0.131)	684			Cytoplasmic (Potential).		Q3ZCQ4|Q58F20	Missense_Mutation	SNP	ENST00000599957.1	37	c.2051G>T	CCDS42595.1	.	.	.	.	.	.	.	.	.	.	C	0.058	-1.230488	0.01518	.	.	ENSG00000131409	ENST00000389201	T	0.35048	1.33	2.4	2.4	0.29515	.	0.979044	0.08233	U	0.977268	T	0.27349	0.0671	L	0.36672	1.1	0.45250	D	0.99825	B	0.25850	0.136	B	0.24006	0.05	T	0.06285	-1.0835	10	0.11794	T	0.64	.	10.5026	0.44815	0.0:1.0:0.0:0.0	.	684	Q9NT99	LRC4B_HUMAN	V	684	ENSP00000373853:G684V	ENSP00000373853:G684V	G	-	2	0	LRRC4B	55712731	0.101000	0.21875	0.998000	0.56505	0.617000	0.37484	0.540000	0.23191	1.347000	0.45714	0.455000	0.32223	GGG		0.672	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457		13	19	1	0	0.000151284	0.000169509	13	19				
ZSCAN5A	79149	broad.mit.edu	37	19	56733088	56733088	+	Silent	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr19:56733088G>A	ENST00000587340.1	-	7	2042	c.1347C>T	c.(1345-1347)ttC>ttT	p.F449F	ZSCAN5A_ENST00000587492.1_Silent_p.F303F|ZSCAN5A_ENST00000254165.3_Silent_p.F332F|ZSCAN5A_ENST00000391713.1_Silent_p.F449F|ZSCAN5A_ENST00000592355.1_Silent_p.F448F			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	449					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CCCTGTAGGTGAAAACTTTCT	0.507																																						uc002qmq.2		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(1345-1347)TTC>TTT		zinc finger and SCAN domain containing 5A							65.0	61.0	62.0					19																	56733088		2203	4300	6503	SO:0001819	synonymous_variant	79149				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56733088G>A	AK098700	CCDS12941.1	19q13.43	2013-01-08	2008-06-10	2008-06-10	ENSG00000131848	ENSG00000131848		"""-"", ""Zinc fingers, C2H2-type"""	23710	protein-coding gene	gene with protein product			"""zinc finger protein 495"", ""zinc finger and SCAN domain containing 5"""	ZNF495, ZSCAN5			Standard	NM_024303		Approved	MGC4161	uc002qmq.3	Q9BUG6		ENST00000587340.1:c.1347C>T	19.37:g.56733088G>A						ZSCAN5A_uc010ygi.1_Silent_p.F332F|ZSCAN5A_uc002qmr.2_Silent_p.F449F|ZSCAN5A_uc002qms.1_Silent_p.F448F	p.F449F	NM_024303	NP_077279	Q9BUG6	ZSA5A_HUMAN			5	1513	-			449			C2H2-type 4.		B4DX98|Q49A73|Q53F04|Q8N7B3	Silent	SNP	ENST00000587340.1	37	c.1347C>T	CCDS12941.1																																																																																				0.507	ZSCAN5A-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458110.1	NM_024303		27	79	0	0	0	0	27	79				
APOB	338	broad.mit.edu	37	2	21245717	21245717	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:21245717C>A	ENST00000233242.1	-	18	2929	c.2802G>T	c.(2800-2802)aaG>aaT	p.K934N		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	934	Heparin-binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACTGAGCAGCTTGACTGGTC	0.478																																						uc002red.2		NA																	0				ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(2800-2802)AAG>AAT		apolipoprotein B precursor	Atorvastatin(DB01076)						59.0	54.0	55.0					2																	21245717		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21245717C>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.2802G>T	2.37:g.21245717C>A	ENSP00000233242:p.Lys934Asn						p.K934N	NM_000384	NP_000375	P04114	APOB_HUMAN			18	2930	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		934			Heparin-binding.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.2802G>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.860867	0.51482	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.14766	2.48	5.61	5.61	0.85477	Lipid transport protein, beta-sheet shell (1);Vitellinogen, open beta-sheet (1);Vitellinogen, open beta-sheet, subdomain 2 (1);	0.278564	0.30483	N	0.009527	T	0.33059	0.0850	L	0.61036	1.89	0.80722	D	1	D	0.63880	0.993	D	0.68039	0.955	T	0.00775	-1.1571	10	0.72032	D	0.01	.	13.7102	0.62663	0.0:0.9201:0.0:0.0799	.	934	P04114	APOB_HUMAN	N	934	ENSP00000233242:K934N	ENSP00000233242:K934N	K	-	3	2	APOB	21099222	1.000000	0.71417	0.980000	0.43619	0.327000	0.28475	0.988000	0.29616	2.821000	0.97095	0.655000	0.94253	AAG		0.478	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			18	55	1	0	6.94e-10	8.51e-10	18	55				
THADA	63892	broad.mit.edu	37	2	43776495	43776495	+	Missense_Mutation	SNP	C	C	A	rs566178801	byFrequency	TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:43776495C>A	ENST00000405006.4	-	20	3311	c.2960G>T	c.(2959-2961)cGc>cTc	p.R987L	THADA_ENST00000405975.2_Missense_Mutation_p.R987L|THADA_ENST00000415080.2_Missense_Mutation_p.R697L|THADA_ENST00000330266.7_Missense_Mutation_p.R697L	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	987										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CATCTGTAAGCGGCTTGCTGA	0.383																																						uc002rsw.3		NA																	0				ovary(2)|skin(1)	3						c.(2959-2961)CGC>CTC		thyroid adenoma associated							57.0	52.0	54.0					2																	43776495		1882	4113	5995	SO:0001583	missense	63892						binding	g.chr2:43776495C>A	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.2960G>T	2.37:g.43776495C>A	ENSP00000385995:p.Arg987Leu					THADA_uc010far.2_Missense_Mutation_p.R256L|THADA_uc002rsx.3_Missense_Mutation_p.R987L|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_RNA|THADA_uc002rsz.2_Missense_Mutation_p.R696L|THADA_uc010fat.1_Missense_Mutation_p.R134L|THADA_uc002rta.2_Missense_Mutation_p.R697L	p.R987L	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN			20	3312	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	987					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	c.2960G>T	CCDS46268.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.69|15.69	2.909194|2.909194	0.52439|0.52439	.|.	.|.	ENSG00000115970|ENSG00000115970	ENST00000407351|ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006	.|T;T;T;T	.|0.29142	.|1.58;2.94;2.79;2.94	5.82|5.82	4.93|4.93	0.64822|0.64822	.|Domain of unknown function DUF2428, death-receptor-like (1);Armadillo-type fold (1);	.|0.140663	.|0.49916	.|D	.|0.000121	T|T	0.43656|0.43656	0.1257|0.1257	L|L	0.39898|0.39898	1.24|1.24	0.39815|0.39815	D|D	0.972763|0.972763	.|P;D;P;D	.|0.89917	.|0.837;0.999;0.865;1.0	.|B;D;B;D	.|0.74674	.|0.424;0.982;0.431;0.984	T|T	0.12091|0.12091	-1.0561|-1.0561	5|10	.|0.30854	.|T	.|0.27	.|.	13.3228|13.3228	0.60442|0.60442	0.0:0.9246:0.0:0.0754|0.0:0.9246:0.0:0.0754	.|.	.|697;988;697;987	.|Q6YHU6-2;B6ZDQ0;C9JJB1;Q6YHU6	.|.;.;.;THADA_HUMAN	S|L	301|697;987;988;697;987	.|ENSP00000331105:R697L;ENSP00000386088:R987L;ENSP00000416048:R697L;ENSP00000385995:R987L	.|ENSP00000331105:R697L	A|R	-|-	1|2	0|0	THADA|THADA	43629999|43629999	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	2.430000|2.430000	0.44766|0.44766	2.753000|2.753000	0.94483|0.94483	0.467000|0.467000	0.42956|0.42956	GCT|CGC		0.383	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		3	11	1	0	0.004672	0.00501944	3	11				
NRXN1	9378	broad.mit.edu	37	2	50847323	50847323	+	Splice_Site	SNP	T	T	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:50847323T>A	ENST00000406316.2	-	8	2635		c.e8-2		NRXN1_ENST00000404971.1_Splice_Site|NRXN1_ENST00000331040.5_Splice_Site|NRXN1_ENST00000401669.2_Splice_Site|NRXN1_ENST00000405472.3_Splice_Site|NRXN1_ENST00000402717.3_Splice_Site|NRXN1_ENST00000406859.3_Splice_Site	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1						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)			TATTGTCACCTAGATAACAAA	0.418																																						uc010fbq.2		NA																	0				ovary(2)	2						c.e8-1		neurexin 1 isoform alpha2 precursor							54.0	53.0	53.0					2																	50847323		2049	4223	6272	SO:0001630	splice_region_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.chr2:50847323T>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.1159-2A>T	2.37:g.50847323T>A						NRXN1_uc002rxb.3_Splice_Site_p.V59_splice|NRXN1_uc002rxe.3_Splice_Site_p.V387_splice|NRXN1_uc002rxc.1_Splice_Site	p.V427_splice	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		8	2756	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)						A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Splice_Site	SNP	ENST00000406316.2	37	c.1279_splice	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	T	15.74	2.922886	0.52653	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NRXN1	50700827	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.367000	0.80283	0.528000	0.53228	.		0.418	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2		Intron	3	42	0	0	0	0	3	42				
USP34	9736	broad.mit.edu	37	2	61508321	61508321	+	Silent	SNP	C	C	T	rs4645002	byFrequency	TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:61508321C>T	ENST00000398571.2	-	38	5131	c.5055G>A	c.(5053-5055)ctG>ctA	p.L1685L		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1685					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CTCCTCCATCCAGCCCTGACA	0.403													C|||	3	0.000599042	0.0	0.0014	5008	,	,		18959	0.0		0.002	False		,,,				2504	0.0					uc002sbe.2		NA																	0				ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19						c.(5053-5055)CTG>CTA		ubiquitin specific protease 34		C		2,3792		0,2,1895	83.0	78.0	80.0		5055	1.6	1.0	2	dbSNP_111	80	26,8198		0,26,4086	no	coding-synonymous	USP34	NM_014709.3		0,28,5981	TT,TC,CC		0.3161,0.0527,0.233		1685/3547	61508321	28,11990	1897	4112	6009	SO:0001819	synonymous_variant	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61508321C>T	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.5055G>A	2.37:g.61508321C>T						USP34_uc002sbf.2_5'Flank	p.L1685L	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		38	5077	-			1685					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Silent	SNP	ENST00000398571.2	37	c.5055G>A	CCDS42686.1																																																																																				0.403	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			9	32	0	0	0	0	9	32				
AFTPH	54812	broad.mit.edu	37	2	64780055	64780055	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:64780055G>T	ENST00000422803.1	+	2	1761	c.1447G>T	c.(1447-1449)Gat>Tat	p.D483Y	AFTPH_ENST00000409183.1_Missense_Mutation_p.D114Y|AFTPH_ENST00000409933.1_Missense_Mutation_p.D483Y|AFTPH_ENST00000487769.1_3'UTR|AFTPH_ENST00000238856.4_Missense_Mutation_p.D483Y|AFTPH_ENST00000238855.7_Missense_Mutation_p.D483Y			Q6ULP2	AFTIN_HUMAN	aftiphilin	483					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						AGAATTTGGGGATATAAATGC	0.368																																						uc002sdc.2		NA																	0				ovary(2)	2						c.(1447-1449)GAT>TAT		aftiphilin protein isoform a							111.0	112.0	111.0					2																	64780055		2203	4299	6502	SO:0001583	missense	54812				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	g.chr2:64780055G>T	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.1447G>T	2.37:g.64780055G>T	ENSP00000397726:p.Asp483Tyr					AFTPH_uc002scz.2_Missense_Mutation_p.D483Y|AFTPH_uc002sda.2_Missense_Mutation_p.D483Y|AFTPH_uc002sdb.2_Missense_Mutation_p.D483Y	p.D483Y	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN			1	1479	+			483					D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Missense_Mutation	SNP	ENST00000422803.1	37	c.1447G>T		.	.	.	.	.	.	.	.	.	.	G	12.64	1.998209	0.35226	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933;ENST00000409183	T;T;T;T;T	0.57907	1.38;1.39;1.39;1.39;0.37	6.06	4.28	0.50868	.	0.175592	0.47455	D	0.000240	T	0.66386	0.2784	M	0.61703	1.905	0.51233	D	0.999913	D;D;D;D	0.69078	0.992;0.992;0.997;0.997	P;P;D;D	0.63033	0.863;0.863;0.91;0.91	T	0.68857	-0.5298	10	0.72032	D	0.01	-4.8446	13.159	0.59535	0.1294:0.0:0.8706:0.0	.	483;483;483;483	Q6ULP2;Q6ULP2-2;Q6ULP2-5;Q6ULP2-4	AFTIN_HUMAN;.;.;.	Y	483;483;483;483;114	ENSP00000238856:D483Y;ENSP00000397726:D483Y;ENSP00000238855:D483Y;ENSP00000387071:D483Y;ENSP00000386913:D114Y	ENSP00000238855:D483Y	D	+	1	0	AFTPH	64633559	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	7.302000	0.78861	0.903000	0.36546	-0.157000	0.13467	GAT		0.368	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		33	172	1	0	3.33e-15	4.3e-15	33	172				
STAMBP	10617	broad.mit.edu	37	2	74089382	74089382	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:74089382G>A	ENST00000394070.2	+	10	1774	c.1271G>A	c.(1270-1272)cGa>cAa	p.R424Q	STAMBP_ENST00000486458.1_3'UTR|STAMBP_ENST00000394073.1_Missense_Mutation_p.R424Q|STAMBP_ENST00000339566.3_Missense_Mutation_p.R424Q|STAMBP_ENST00000409707.1_Missense_Mutation_p.R424Q	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN	STAM binding protein	424					JAK-STAT cascade (GO:0007259)|mitotic cytokinesis (GO:0000281)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of cell proliferation (GO:0008284)|protein deubiquitination (GO:0016579)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|ubiquitin-specific protease activity (GO:0004843)	p.R424Q(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						ACAGACCTTCGATGAGCGTTT	0.423																																						uc002sjs.2		NA																	1	Substitution - Missense(1)		endometrium(1)	ovary(1)|lung(1)|breast(1)|pancreas(1)	4						c.(1270-1272)CGA>CAA		STAM binding protein							82.0	78.0	79.0					2																	74089382		2203	4300	6503	SO:0001583	missense	10617				JAK-STAT cascade|positive regulation of cell proliferation	early endosome|membrane|nucleus	metal ion binding|metallopeptidase activity|protein binding	g.chr2:74089382G>A	BC007682	CCDS1929.1	2p24.3-p24.1	2008-02-05			ENSG00000124356	ENSG00000124356			16950	protein-coding gene	gene with protein product		606247				10383417	Standard	NM_006463		Approved	AMSH	uc002sjs.3	O95630	OTTHUMG00000129817	ENST00000394070.2:c.1271G>A	2.37:g.74089382G>A	ENSP00000377633:p.Arg424Gln					STAMBP_uc002sjt.2_Missense_Mutation_p.R424Q|STAMBP_uc002sju.2_Missense_Mutation_p.R424Q|STAMBP_uc002sjv.2_Missense_Mutation_p.R424Q	p.R424Q	NM_201647	NP_964010	O95630	STABP_HUMAN			10	1321	+			424					B5M0B6|D6W5H7|Q3MJE7	Missense_Mutation	SNP	ENST00000394070.2	37	c.1271G>A	CCDS1929.1	.	.	.	.	.	.	.	.	.	.	G	35	5.418066	0.96092	.	.	ENSG00000124356	ENST00000339566;ENST00000409707;ENST00000394073;ENST00000394070	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.91	5.91	0.95273	.	0.075433	0.56097	D	0.000033	T	0.72867	0.3514	M	0.90705	3.14	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.77606	-0.2525	10	0.87932	D	0	-2.8127	19.0726	0.93145	0.0:0.0:1.0:0.0	.	424	O95630	STABP_HUMAN	Q	424	ENSP00000344742:R424Q;ENSP00000386548:R424Q;ENSP00000377636:R424Q;ENSP00000377633:R424Q	ENSP00000344742:R424Q	R	+	2	0	STAMBP	73942890	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	5.185000	0.65076	2.809000	0.96659	0.555000	0.69702	CGA		0.423	STAMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252048.2	NM_006463		16	96	0	0	0	0	16	96				
REG3G	130120	broad.mit.edu	37	2	79254986	79254986	+	Silent	SNP	T	T	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:79254986T>C	ENST00000272324.5	+	5	571	c.387T>C	c.(385-387)aaT>aaC	p.N129N	REG3G_ENST00000409471.1_Silent_p.N83N|REG3G_ENST00000393897.2_Silent_p.N129N	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	129	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|defense response to Gram-positive bacterium (GO:0050830)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATGTGATGAATTACTTTGCAT	0.507																																						uc002snw.2		NA																	0					0						c.(385-387)AAT>AAC		regenerating islet-derived 3 gamma precursor							158.0	152.0	154.0					2																	79254986		2203	4300	6503	SO:0001819	synonymous_variant	130120				acute-phase response	extracellular region	sugar binding	g.chr2:79254986T>C	AY359047	CCDS1962.1, CCDS58714.1	2p12	2005-02-11			ENSG00000143954	ENSG00000143954			29595	protein-coding gene	gene with protein product		609933				12975309	Standard	NM_001008387		Approved	UNQ429, LPPM429, PAP1B	uc002snx.4	Q6UW15	OTTHUMG00000130018	ENST00000272324.5:c.387T>C	2.37:g.79254986T>C						REG3G_uc002snx.2_Silent_p.N129N|REG3G_uc010ffu.2_Silent_p.N83N	p.N129N	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN			5	472	+			129			C-type lectin.		A8K980|D6W5J6|Q3SYE4|Q3SYE6|Q6FH18	Silent	SNP	ENST00000272324.5	37	c.387T>C	CCDS1962.1																																																																																				0.507	REG3G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328247.1	NM_198448		34	169	0	0	0	0	34	169				
VWA3B	200403	broad.mit.edu	37	2	98828426	98828426	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:98828426A>T	ENST00000477737.1	+	13	1975	c.1771A>T	c.(1771-1773)Aaa>Taa	p.K591*	VWA3B_ENST00000435344.1_Nonsense_Mutation_p.K591*|VWA3B_ENST00000451075.2_Nonsense_Mutation_p.K441*	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	591	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.									NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GAGTGCCCTGAAAACTGCTTT	0.443																																						uc002syo.2		NA																	0				ovary(3)|large_intestine(2)|skin(1)	6						c.(1771-1773)AAA>TAA		von Willebrand factor A domain containing 3B							102.0	101.0	101.0					2																	98828426		1860	4106	5966	SO:0001587	stop_gained	200403							g.chr2:98828426A>T	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.1771A>T	2.37:g.98828426A>T	ENSP00000417955:p.Lys591*					VWA3B_uc010yvh.1_Nonsense_Mutation_p.K441*|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_Nonsense_Mutation_p.K110*|VWA3B_uc002sym.2_Nonsense_Mutation_p.K591*|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Nonsense_Mutation_p.K248*|VWA3B_uc002syp.1_5'UTR|VWA3B_uc002syq.1_5'UTR|VWA3B_uc002syr.1_5'UTR	p.K591*	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN			13	2035	+			591			VWFA.		B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Nonsense_Mutation	SNP	ENST00000477737.1	37	c.1771A>T	CCDS42718.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.47|19.47	3.833876|3.833876	0.71258|0.71258	.|.	.|.	ENSG00000168658|ENSG00000168658	ENST00000473149|ENST00000435344;ENST00000477737;ENST00000451075	.|.	.|.	.|.	5.55|5.55	2.25|2.25	0.28309|0.28309	.|.	.|0.357607	.|0.26816	.|N	.|0.022353	T|.	0.31702|.	0.0805|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.36480|.	-0.9746|.	3|.	.|0.02654	.|T	.|1	.|.	13.1714|13.1714	0.59599|0.59599	0.5081:0.4919:0.0:0.0|0.5081:0.4919:0.0:0.0	.|.	.|.	.|.	.|.	V|X	1|591;591;441	.|.	.|ENSP00000388158:K591X	E|K	+|+	2|1	0|0	VWA3B|VWA3B	98194858|98194858	0.955000|0.955000	0.32602|0.32602	0.782000|0.782000	0.31804|0.31804	0.422000|0.422000	0.31414|0.31414	0.831000|0.831000	0.27476|0.27476	0.646000|0.646000	0.30693|0.30693	-0.689000|-0.689000	0.03729|0.03729	GAA|AAA		0.443	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		28	98	0	0	0	0	28	98				
CHST10	9486	broad.mit.edu	37	2	101014428	101014428	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:101014428G>C	ENST00000264249.3	-	5	754	c.369C>G	c.(367-369)ttC>ttG	p.F123L	CHST10_ENST00000542617.1_Missense_Mutation_p.F171L|CHST10_ENST00000409701.1_Missense_Mutation_p.F123L	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	123					carbohydrate biosynthetic process (GO:0016051)|cell adhesion (GO:0007155)|learning (GO:0007612)|long-term memory (GO:0007616)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	HNK-1 sulfotransferase activity (GO:0016232)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						GAGTCTGGCAGAAAAGAATCT	0.493																																						uc002tam.2		NA																	0				ovary(1)	1						c.(367-369)TTC>TTG		HNK-1 sulfotransferase							136.0	131.0	133.0					2																	101014428		2203	4300	6503	SO:0001583	missense	9486				carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction		g.chr2:101014428G>C	BC010441	CCDS2047.1	2q11.2	2008-02-05			ENSG00000115526	ENSG00000115526		"""Sulfotransferases, membrane-bound"""	19650	protein-coding gene	gene with protein product		606376				12080076	Standard	NM_004854		Approved	HNK-1ST	uc002tam.3	O43529	OTTHUMG00000130669	ENST00000264249.3:c.369C>G	2.37:g.101014428G>C	ENSP00000264249:p.Phe123Leu						p.F123L	NM_004854	NP_004845	O43529	CHSTA_HUMAN			5	728	-			123			Lumenal (Potential).		Q53T18	Missense_Mutation	SNP	ENST00000264249.3	37	c.369C>G	CCDS2047.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.580104	0.86645	.	.	ENSG00000115526	ENST00000264249;ENST00000542617;ENST00000409701;ENST00000409046;ENST00000420858	T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;0.22	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.80929	0.4718	M	0.68593	2.085	0.80722	D	1	D	0.63046	0.992	P	0.62298	0.9	T	0.81961	-0.0693	10	0.66056	D	0.02	-31.0031	7.4453	0.27207	0.1982:0.0:0.8018:0.0	.	123	O43529	CHSTA_HUMAN	L	123;171;123;123;123	ENSP00000264249:F123L;ENSP00000438869:F171L;ENSP00000387309:F123L;ENSP00000387121:F123L;ENSP00000405922:F123L	ENSP00000264249:F123L	F	-	3	2	CHST10	100380860	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.955000	0.63638	2.685000	0.91497	0.655000	0.94253	TTC		0.493	CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253162.1	NM_004854		27	99	0	0	0	0	27	99				
SCN1A	6323	broad.mit.edu	37	2	166848385	166848385	+	Silent	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:166848385C>T	ENST00000303395.4	-	26	5399	c.5400G>A	c.(5398-5400)ctG>ctA	p.L1800L	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.L1772L|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Silent_p.L1789L|SCN1A_ENST00000423058.2_Silent_p.L1800L			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1800					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CATCCTCACTCAGAGGCTCTG	0.433																																						uc010zcz.1		NA																	0				ovary(6)|skin(6)|large_intestine(1)	13						c.(5365-5367)CTG>CTA		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						100.0	102.0	102.0					2																	166848385		2203	4297	6500	SO:0001819	synonymous_variant	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166848385C>T	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.5400G>A	2.37:g.166848385C>T							p.L1789L	NM_006920	NP_008851	P35498	SCN1A_HUMAN			26	5385	-			1800			IV.		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	ENST00000303395.4	37	c.5367G>A	CCDS54413.1																																																																																				0.433	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		33	154	0	0	0	0	33	154				
NOSTRIN	115677	broad.mit.edu	37	2	169699618	169699618	+	Silent	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:169699618C>T	ENST00000317647.7	+	8	850	c.621C>T	c.(619-621)aaC>aaT	p.N207N	NOSTRIN_ENST00000397209.2_Silent_p.N179N|NOSTRIN_ENST00000444448.2_Silent_p.N207N|NOSTRIN_ENST00000458381.2_Silent_p.N207N|NOSTRIN_ENST00000445023.2_Silent_p.N129N|NOSTRIN_ENST00000421711.2_Silent_p.N179N|NOSTRIN_ENST00000397206.2_Silent_p.N129N	NM_001039724.3	NP_001034813.2	Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	207					endocytosis (GO:0006897)|negative regulation of transcription, DNA-templated (GO:0045892)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoskeleton (GO:0005856)|endocytic vesicle membrane (GO:0030666)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						CACTAGAGAACTGCTACCAGG	0.383																																						uc002ueg.2		NA																	0					0						c.(619-621)AAC>AAT		nitric oxide synthase trafficker isoform 2							67.0	63.0	64.0					2																	169699618		1851	4085	5936	SO:0001819	synonymous_variant	115677				endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding	g.chr2:169699618C>T	AJ532842	CCDS42771.1, CCDS42772.1, CCDS54415.1, CCDS54416.1	2q31.1	2013-08-05	2013-08-05		ENSG00000163072	ENSG00000163072			20203	protein-coding gene	gene with protein product		607496	"""nitric oxide synthase trafficker"""			12446846	Standard	NM_001171631		Approved	MGC20702	uc002ueg.3	Q8IVI9	OTTHUMG00000153990	ENST00000317647.7:c.621C>T	2.37:g.169699618C>T						NOSTRIN_uc002uef.2_Silent_p.N207N|NOSTRIN_uc002uei.2_Silent_p.N90N|NOSTRIN_uc010fpu.2_Silent_p.N179N|NOSTRIN_uc002ueh.2_Silent_p.N129N|NOSTRIN_uc002uej.2_Silent_p.N90N	p.N207N	NM_001039724	NP_001034813	Q8IVI9	NOSTN_HUMAN			8	625	+			207			Potential.		A8K2I9|B3KSF5|E7EPT9|Q27HG3|Q53S62|Q96CJ9	Silent	SNP	ENST00000317647.7	37	c.621C>T	CCDS42771.1																																																																																				0.383	NOSTRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333356.4	NM_052946		11	54	0	0	0	0	11	54				
CHN1	1123	broad.mit.edu	37	2	175666459	175666459	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:175666459C>G	ENST00000409900.3	-	12	1497	c.1184G>C	c.(1183-1185)cGg>cCg	p.R395P	CHN1_ENST00000409597.1_Missense_Mutation_p.R211P|CHN1_ENST00000295497.7_Missense_Mutation_p.R270P|CHN1_ENST00000409156.3_Missense_Mutation_p.R369P|CHN1_ENST00000488080.1_5'UTR	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	395	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				ephrin receptor signaling pathway (GO:0048013)|motor neuron axon guidance (GO:0008045)|positive regulation of signal transduction (GO:0009967)|regulation of axonogenesis (GO:0050770)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)	p.R395Q(1)		NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			CATGAGGTACCGGAGGGTTTC	0.413			T	TAF15	extraskeletal myxoid chondrosarcoma																																	uc002uji.2		NA		Dom	yes		2	2q31-q32.1	1123	T	chimerin (chimaerin) 1			M	TAF15		extraskeletal myxoid chondrosarcoma		1	Substitution - Missense(1)	p.R395Q(1)	skin(1)	ovary(2)|skin(1)	3						c.(1183-1185)CGG>CCG		chimerin (chimaerin) 1 isoform a							170.0	173.0	172.0					2																	175666459		1974	4164	6138	SO:0001583	missense	1123				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr2:175666459C>G		CCDS46454.1, CCDS46455.1, CCDS56147.1	2q31-q32.1	2013-02-14	2012-10-17		ENSG00000128656	ENSG00000128656		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1943	protein-coding gene	gene with protein product	"""Chimerin 1 (GTPase-activating protein, rho, 2)"", ""chimaerin 1"""	118423	"""Duane retraction syndrome 2"", ""chimerin (chimaerin) 1"""	CHN, DURS2		2299665, 15013773, 18653847	Standard	NM_001822		Approved	RhoGAP2, ARHGAP2, n-chimerin	uc002uji.3	P15882	OTTHUMG00000154225	ENST00000409900.3:c.1184G>C	2.37:g.175666459C>G	ENSP00000386741:p.Arg395Pro					CHN1_uc010zeq.1_Missense_Mutation_p.R369P|CHN1_uc002ujj.2_Missense_Mutation_p.R170P|CHN1_uc002ujg.2_Missense_Mutation_p.R270P	p.R395P	NM_001822	NP_001813	P15882	CHIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.226)		12	1714	-			395			Rho-GAP.		A8K1M6|B3KNU6|B4DV19|Q53SD6|Q53SH5|Q96FB0	Missense_Mutation	SNP	ENST00000409900.3	37	c.1184G>C	CCDS46455.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212621	0.79240	.	.	ENSG00000128656	ENST00000409900;ENST00000295497;ENST00000409597;ENST00000409156;ENST00000409089;ENST00000444394	T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01;2.01	5.42	5.42	0.78866	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.59838	0.2223	H	0.94698	3.57	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.789	D;D;P	0.75020	0.985;0.985;0.663	T	0.71507	-0.4572	10	0.72032	D	0.01	.	18.5642	0.91112	0.0:1.0:0.0:0.0	.	369;395;270	B4DV19;P15882;P15882-2	.;CHIN_HUMAN;.	P	395;270;211;369;187;170	ENSP00000386741:R395P;ENSP00000295497:R270P;ENSP00000386469:R211P;ENSP00000386470:R369P;ENSP00000386322:R187P;ENSP00000411911:R170P	ENSP00000295497:R270P	R	-	2	0	CHN1	175374705	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.713000	0.54882	2.690000	0.91761	0.591000	0.81541	CGG		0.413	CHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334453.1	NM_001822		44	143	0	0	0	0	44	143				
TTN	7273	broad.mit.edu	37	2	179447313	179447313	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:179447313G>C	ENST00000591111.1	-	264	61171	c.60947C>G	c.(60946-60948)cCg>cGg	p.P20316R	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P19389R|TTN_ENST00000460472.2_Missense_Mutation_p.P12892R|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P13084R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P13017R|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P21957R|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20316					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGAGGACCCGGTTTATCTGA	0.438																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(58165-58167)CCG>CGG		titin isoform N2-A							60.0	57.0	58.0					2																	179447313		1850	4092	5942	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179447313G>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.60947C>G	2.37:g.179447313G>C	ENSP00000465570:p.Pro20316Arg					uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P13084R|TTN_uc010zfi.1_Missense_Mutation_p.P13017R|TTN_uc010zfj.1_Missense_Mutation_p.P12892R	p.P19389R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		263	58390	-			20316					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.58166C>G		.	.	.	.	.	.	.	.	.	.	G	11.73	1.725350	0.30593	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.76	5.76	0.90799	Fibronectin, type III (3);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85969	0.5821	H	0.99404	4.55	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;0.999	D	0.91813	0.5461	9	0.87932	D	0	.	19.9522	0.97203	0.0:0.0:1.0:0.0	.	12892;13017;13084;20316	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	19389;12892;13084;13017;12890	ENSP00000343764:P19389R;ENSP00000434586:P12892R;ENSP00000340554:P13084R;ENSP00000352154:P13017R	ENSP00000340554:P13084R	P	-	2	0	TTN	179155559	1.000000	0.71417	1.000000	0.80357	0.225000	0.24961	9.765000	0.98953	2.712000	0.92718	0.655000	0.94253	CCG		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	47	0	0	0	0	6	47				
TTN	7273	broad.mit.edu	37	2	179590124	179590124	+	Missense_Mutation	SNP	C	C	G	rs2742325		TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:179590124C>G	ENST00000591111.1	-	69	20080	c.19856G>C	c.(19855-19857)aGg>aCg	p.R6619T	TTN_ENST00000342992.6_Missense_Mutation_p.R5692T|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R6936T			Q8WZ42	TITIN_HUMAN	titin	12219	Ig-like 47.			R -> E (in Ref. 1; CAA62189 and 3; CAD12456). {ECO:0000305}.	adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATGTTCTCCCTCATTCCACC	0.418																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(17074-17076)AGG>ACG		titin isoform N2-A							83.0	75.0	78.0					2																	179590124		1952	4152	6104	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179590124C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.19856G>C	2.37:g.179590124C>G	ENSP00000465570:p.Arg6619Thr					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R2353T	p.R5692T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		68	17299	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.17075G>C		.	.	.	.	.	.	.	.	.	.	C	12.34	1.907841	0.33721	.	.	ENSG00000155657	ENST00000342992	T	0.66815	-0.23	5.86	5.86	0.93980	.	.	.	.	.	T	0.69904	0.3163	N	0.25957	0.775	0.80722	D	1	.	.	.	.	.	.	T	0.71427	-0.4596	7	0.87932	D	0	.	20.5632	0.99335	0.0:1.0:0.0:0.0	.	.	.	.	T	5692	ENSP00000343764:R5692T	ENSP00000343764:R5692T	R	-	2	0	TTN	179298369	0.793000	0.28825	0.998000	0.56505	0.987000	0.75469	1.901000	0.39838	2.937000	0.99478	0.650000	0.86243	AGG		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	12	0	0	0	0	8	12				
KLF7	8609	broad.mit.edu	37	2	207953303	207953303	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:207953303C>T	ENST00000309446.6	-	3	1112	c.736G>A	c.(736-738)Gag>Aag	p.E246K	KLF7_ENST00000423015.1_Silent_p.V178V|KLF7_ENST00000421199.1_Missense_Mutation_p.E213K|KLF7_ENST00000412414.2_Missense_Mutation_p.E218K|KLF7_ENST00000458272.1_Missense_Mutation_p.E56K|KLF7_ENST00000467833.1_5'UTR	NM_003709.3	NP_003700.1	O75840	KLF7_HUMAN	Kruppel-like factor 7 (ubiquitous)	246					axon guidance (GO:0007411)|dendrite morphogenesis (GO:0048813)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1)	11				LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)		TAAGGCTTCTCACCTGCAAGA	0.547																																						uc002vbz.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(736-738)GAG>AAG		Kruppel-like factor 7 (ubiquitous)							85.0	72.0	76.0					2																	207953303		2203	4300	6503	SO:0001583	missense	8609				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding	g.chr2:207953303C>T	AB015132	CCDS2373.1, CCDS59438.1, CCDS59439.1, CCDS59440.1	2q32	2013-01-08			ENSG00000118263	ENSG00000118263		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6350	protein-coding gene	gene with protein product		604865				9774444	Standard	NM_003709		Approved	UKLF	uc010zix.2	O75840	OTTHUMG00000132935	ENST00000309446.6:c.736G>A	2.37:g.207953303C>T	ENSP00000309570:p.Glu246Lys					KLF7_uc002vca.1_Silent_p.V178V|KLF7_uc010zix.1_Missense_Mutation_p.E218K	p.E246K	NM_003709	NP_003700	O75840	KLF7_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)	3	1058	-			246					B2RB03|B7Z4F7|C9JF04|E7EWH1|L0R4P2|Q7Z3H8|Q96E51	Missense_Mutation	SNP	ENST00000309446.6	37	c.736G>A	CCDS2373.1	.	.	.	.	.	.	.	.	.	.	C	36	5.875271	0.97055	.	.	ENSG00000118263	ENST00000309446;ENST00000421199;ENST00000412414;ENST00000458272	T;T;T;T	0.24350	1.86;1.86;1.86;2.12	5.95	5.95	0.96441	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.49457	0.1558	L	0.49513	1.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.39781	-0.9597	10	0.87932	D	0	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	218;246	B7Z4F7;O75840	.;KLF7_HUMAN	K	246;213;218;56	ENSP00000309570:E246K;ENSP00000387510:E213K;ENSP00000403284:E218K;ENSP00000393268:E56K	ENSP00000309570:E246K	E	-	1	0	KLF7	207661548	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.818000	0.86416	2.824000	0.97209	0.655000	0.94253	GAG		0.547	KLF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256466.2	NM_003709		20	78	0	0	0	0	20	78				
PIKFYVE	200576	broad.mit.edu	37	2	209169573	209169573	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:209169573C>G	ENST00000264380.4	+	12	1630	c.1472C>G	c.(1471-1473)tCt>tGt	p.S491C	PIKFYVE_ENST00000407449.1_Missense_Mutation_p.S491C|PIKFYVE_ENST00000392202.3_Missense_Mutation_p.S394C|PIKFYVE_ENST00000308862.6_Missense_Mutation_p.S405C	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	491					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						CTAAAAGATTCTGCCAGTCCT	0.468																																						uc002vcz.2		NA																	0				ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						c.(1471-1473)TCT>TGT		phosphatidylinositol-3-phosphate 5-kinase type							90.0	88.0	89.0					2																	209169573		2203	4300	6503	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209169573C>G	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.1472C>G	2.37:g.209169573C>G	ENSP00000264380:p.Ser491Cys					PIKFYVE_uc010fun.1_Missense_Mutation_p.S172C|PIKFYVE_uc002vcy.1_Intron|PIKFYVE_uc002vcv.2_Missense_Mutation_p.S394C|PIKFYVE_uc002vcw.2_Missense_Mutation_p.S491C|PIKFYVE_uc002vcx.2_Missense_Mutation_p.S405C	p.S491C	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN			12	1630	+			491					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.1472C>G	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419446	0.62622	.	.	ENSG00000115020	ENST00000392202;ENST00000264380;ENST00000407449;ENST00000308862	T;T	0.68331	1.38;-0.32	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000001	T	0.73938	0.3651	N	0.24115	0.695	0.58432	D	0.999997	D;D;D;D	0.76494	0.999;0.999;0.997;0.998	D;D;P;D	0.76071	0.987;0.983;0.892;0.977	T	0.76429	-0.2962	10	0.66056	D	0.02	-19.8714	20.009	0.97446	0.0:1.0:0.0:0.0	.	491;405;491;394	Q9Y2I7;Q9Y2I7-3;Q08AR7;Q9Y2I7-2	FYV1_HUMAN;.;.;.	C	394;491;491;405	ENSP00000264380:S491C;ENSP00000384356:S491C	ENSP00000264380:S491C	S	+	2	0	PIKFYVE	208877818	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.786000	0.85741	2.733000	0.93635	0.563000	0.77884	TCT		0.468	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		12	116	0	0	0	0	12	116				
SPEG	10290	broad.mit.edu	37	2	220312735	220312735	+	Silent	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:220312735C>T	ENST00000312358.7	+	4	987	c.855C>T	c.(853-855)gaC>gaT	p.D285D	SPEG_ENST00000396695.2_5'UTR|SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396698.1_Silent_p.D181D	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	285	Pro-rich.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGGAGCCCGACCTTCAGCCTC	0.672																																						uc010fwg.2		NA																	0				stomach(9)|ovary(4)|central_nervous_system(1)	14						c.(853-855)GAC>GAT		SPEG complex locus							16.0	20.0	18.0					2																	220312735		2019	4170	6189	SO:0001819	synonymous_variant	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220312735C>T	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.855C>T	2.37:g.220312735C>T						SPEG_uc002vlm.2_RNA|SPEG_uc010fwh.1_5'UTR|SPEG_uc002vln.1_5'UTR|SPEG_uc002vlp.1_5'Flank	p.D285D	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	4	855	+		Renal(207;0.0183)	285			Pro-rich.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	37	c.855C>T	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	C	7.448	0.642188	0.14451	.	.	ENSG00000072195	ENST00000451076	.	.	.	4.81	3.93	0.45458	.	.	.	.	.	T	0.59689	0.2212	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56092	-0.8036	4	.	.	.	.	9.5338	0.39209	0.0:0.8383:0.0:0.1617	.	.	.	.	S	136	.	.	P	+	1	0	SPEG	220020979	0.715000	0.27946	0.998000	0.56505	0.982000	0.71751	1.973000	0.40550	1.023000	0.39654	0.609000	0.83330	CCT		0.672	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		12	34	0	0	0	0	12	34				
USP40	55230	broad.mit.edu	37	2	234465564	234465564	+	Silent	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:234465564C>A	ENST00000427112.2	-	4	518	c.483G>T	c.(481-483)ctG>ctT	p.L161L	USP40_ENST00000251722.6_Silent_p.L161L|USP40_ENST00000450966.1_Silent_p.L173L			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	161	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		TTCCATGGTACAGACGATAGA	0.403																																						uc010zmu.1		NA																	0				ovary(1)|lung(1)|breast(1)	3						c.(481-483)CTG>CTT		SubName: Full=cDNA FLJ56772, highly similar to Ubiquitin carboxyl-terminal hydrolase 40 (EC 3.1.2.15);							96.0	90.0	92.0					2																	234465564		1861	4102	5963	SO:0001819	synonymous_variant	55230				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:234465564C>A	AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"""Ubiquitin-specific peptidases"""	20069	protein-coding gene	gene with protein product		610570	"""ubiquitin specific protease 40"""			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.483G>T	2.37:g.234465564C>A						USP40_uc010zmr.1_Silent_p.L173L	p.L161L			Q9NVE5	UBP40_HUMAN		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)	5	601	-		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)	161					Q6NX38|Q70EL0	Silent	SNP	ENST00000427112.2	37	c.483G>T	CCDS46547.1																																																																																				0.403	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294		21	65	1	0	7.42e-09	8.87e-09	21	65				
CST7	8530	broad.mit.edu	37	20	24937978	24937978	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr20:24937978A>G	ENST00000480798.1	+	2	402	c.126A>G	c.(124-126)atA>atG	p.I42M	CST7_ENST00000376835.2_Missense_Mutation_p.I64M	NM_003650.3	NP_003641.3	O76096	CYTF_HUMAN	cystatin F (leukocystatin)	42					immune response (GO:0006955)|negative regulation of endopeptidase activity (GO:0010951)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)			large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5						CTAAAACAATAAAGACCAATG	0.458																																						uc002wtx.1		NA																	0				ovary(1)	1						c.(190-192)ATA>ATG		cystatin F							225.0	216.0	219.0					20																	24937978		2203	4300	6503	SO:0001583	missense	8530				immune response	cytoplasm|extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:24937978A>G	AF036342	CCDS13165.1, CCDS13165.2	20p11.21	2008-04-15			ENSG00000077984	ENSG00000077984			2479	protein-coding gene	gene with protein product		603253				9733783, 9632704	Standard	NM_003650		Approved		uc002wtx.2	O76096	OTTHUMG00000032108	ENST00000480798.1:c.126A>G	20.37:g.24937978A>G	ENSP00000420384:p.Ile42Met						p.I64M	NM_003650	NP_003641	O76096	CYTF_HUMAN			2	402	+			42					Q6FH95|Q7Z4J8|Q9UED4	Missense_Mutation	SNP	ENST00000480798.1	37	c.192A>G	CCDS13165.2	.	.	.	.	.	.	.	.	.	.	a	11.54	1.670122	0.29693	.	.	ENSG00000077984	ENST00000480798;ENST00000376835	T;T	0.29142	1.58;1.58	4.35	-1.05	0.10036	Proteinase inhibitor I25, cystatin (2);	0.185883	0.45867	D	0.000326	T	0.54727	0.1876	M	0.89095	3.005	0.26863	N	0.967917	D	0.54772	0.968	P	0.61132	0.884	T	0.59123	-0.7513	10	0.62326	D	0.03	-19.936	14.8971	0.70651	0.2536:0.7464:0.0:0.0	.	42	O76096	CYTF_HUMAN	M	42;64	ENSP00000420384:I42M;ENSP00000366031:I64M	ENSP00000366031:I64M	I	+	3	3	CST7	24885978	0.728000	0.28080	0.006000	0.13384	0.173000	0.22820	0.054000	0.14205	-0.412000	0.07519	0.454000	0.30748	ATA		0.458	CST7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078381.2	NM_003650		97	312	0	0	0	0	97	312				
GID8	54994	broad.mit.edu	37	20	61572952	61572952	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr20:61572952T>A	ENST00000266069.3	+	2	245	c.98T>A	c.(97-99)aTc>aAc	p.I33N		NM_017896.2	NP_060366.1	Q9NWU2	GID8_HUMAN	GID complex subunit 8	33	LisH. {ECO:0000255|PROSITE- ProRule:PRU00126}.					cell junction (GO:0030054)|nucleus (GO:0005634)											AACCGCCTCATCATGAACTAC	0.438																																						uc002ydy.2		NA																	0					0						c.(97-99)ATC>AAC		chromosome 20 open reading frame 11							100.0	97.0	98.0					20																	61572952		2203	4300	6503	SO:0001583	missense	54994					nucleus	protein binding	g.chr20:61572952T>A	AK000609	CCDS13510.1	20q13.33	2013-07-31	2013-07-31	2012-07-20	ENSG00000101193	ENSG00000101193			15857	protein-coding gene	gene with protein product		611625	"""chromosome 20 open reading frame 11"", ""GID complex subunit 8 homolog (S. cerevisiae)"""	C20orf11		12559565	Standard	NM_017896		Approved	FLJ20602, bA305P22.1, TWA1	uc002ydy.3	Q9NWU2	OTTHUMG00000032949	ENST00000266069.3:c.98T>A	20.37:g.61572952T>A	ENSP00000266069:p.Ile33Asn						p.I33N	NM_017896	NP_060366	Q9NWU2	CT011_HUMAN			2	275	+	Breast(26;5.68e-08)		33			LisH.		E1P5I3|Q8N5M5	Missense_Mutation	SNP	ENST00000266069.3	37	c.98T>A	CCDS13510.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.796658	0.90453	.	.	ENSG00000101193	ENST00000266069;ENST00000412152	D	0.86769	-2.17	5.61	5.61	0.85477	LisH dimerisation motif (2);LisH dimerisation motif, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.93926	0.8056	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.94808	0.7976	10	0.87932	D	0	-26.8362	15.7896	0.78343	0.0:0.0:0.0:1.0	.	33	Q9NWU2	CT011_HUMAN	N	33	ENSP00000266069:I33N	ENSP00000266069:I33N	I	+	2	0	C20orf11	61043397	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.652000	0.83633	2.141000	0.66446	0.491000	0.48974	ATC		0.438	GID8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080097.2	NM_017896		26	80	0	0	0	0	26	80				
MYO18B	84700	broad.mit.edu	37	22	26164925	26164925	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr22:26164925A>G	ENST00000407587.2	+	4	1211	c.1042A>G	c.(1042-1044)Aca>Gca	p.T348A	MYO18B_ENST00000335473.7_Missense_Mutation_p.T348A|MYO18B_ENST00000536101.1_Missense_Mutation_p.T348A			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	348						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGCAGAGAAGACAGGTGAGCC	0.547																																						uc003abz.1		NA																	0				ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						c.(1042-1044)ACA>GCA		myosin XVIIIB							36.0	38.0	38.0					22																	26164925		2097	4204	6301	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26164925A>G	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.1042A>G	22.37:g.26164925A>G	ENSP00000386096:p.Thr348Ala					MYO18B_uc003aca.1_Missense_Mutation_p.T229A|MYO18B_uc010guy.1_Missense_Mutation_p.T229A|MYO18B_uc010guz.1_Missense_Mutation_p.T229A|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_5'Flank	p.T348A	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			4	1292	+			348					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.1042A>G		.	.	.	.	.	.	.	.	.	.	a	11.13	1.547191	0.27652	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.87412	-2.23;-2.23;-2.25	4.86	-3.04	0.05412	.	3.296160	0.01103	N	0.005412	T	0.71871	0.3391	N	0.12182	0.205	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.001;0.003;0.003	T	0.57780	-0.7752	10	0.27785	T	0.31	.	1.1382	0.01759	0.3328:0.1174:0.3192:0.2307	.	348;348;348	Q8IUG5;F5GXR6;F5GYU7	MY18B_HUMAN;.;.	A	348	ENSP00000441229:T348A;ENSP00000334563:T348A;ENSP00000386096:T348A	ENSP00000334563:T348A	T	+	1	0	MYO18B	24494925	0.000000	0.05858	0.009000	0.14445	0.054000	0.15201	-1.576000	0.02129	-0.426000	0.07360	0.398000	0.26397	ACA		0.547	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		7	18	0	0	0	0	7	18				
CHL1	10752	broad.mit.edu	37	3	404935	404935	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:404935G>C	ENST00000256509.2	+	14	2096	c.1454G>C	c.(1453-1455)aGg>aCg	p.R485T	CHL1_ENST00000397491.2_Missense_Mutation_p.R469T|CHL1-AS1_ENST00000608098.1_RNA|CHL1-AS1_ENST00000417612.1_RNA	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CTGGAGGGCAGGCGGTATCAT	0.428																																						uc003bou.2		NA																	0				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12						c.(1405-1407)AGG>ACG		cell adhesion molecule with homology to L1CAM							112.0	103.0	106.0					3																	404935		2203	4300	6503	SO:0001583	missense	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:404935G>C	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.1454G>C	3.37:g.404935G>C	ENSP00000256509:p.Arg485Thr					CHL1_uc003bot.2_Missense_Mutation_p.R485T|CHL1_uc003bow.1_Missense_Mutation_p.R469T|CHL1_uc011asi.1_Missense_Mutation_p.R485T	p.R469T	NM_006614	NP_006605	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	13	1677	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	469			Ig-like C2-type 5.|Extracellular (Potential).		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	c.1406G>C	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.355072	0.41700	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.27402	1.67;1.67	5.11	0.579	0.17397	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.068410	0.07096	N	0.839518	T	0.21307	0.0513	L	0.35723	1.085	0.09310	N	1	B;B;B	0.14438	0.01;0.01;0.004	B;B;B	0.24269	0.052;0.052;0.039	T	0.34775	-0.9815	10	0.33940	T	0.23	.	1.0466	0.01571	0.2766:0.2005:0.3806:0.1424	.	469;469;485	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	T	485;469	ENSP00000256509:R485T;ENSP00000380628:R469T	ENSP00000256509:R485T	R	+	2	0	CHL1	379935	0.000000	0.05858	0.001000	0.08648	0.657000	0.38888	-0.345000	0.07770	0.229000	0.21039	0.650000	0.86243	AGG		0.428	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		20	60	0	0	0	0	20	60				
RAD18	56852	broad.mit.edu	37	3	8944189	8944189	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:8944189C>A	ENST00000264926.2	-	10	1159	c.1043G>T	c.(1042-1044)aGt>aTt	p.S348I		NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 E3 ubiquitin protein ligase	348					DNA repair (GO:0006281)|negative regulation of DNA recombination (GO:0045910)|protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|spermatogenesis (GO:0007283)	chromatin (GO:0000785)|nucleus (GO:0005634)|replication fork (GO:0005657)|XY body (GO:0001741)	damaged DNA binding (GO:0003684)|ligase activity (GO:0016874)|polyubiquitin binding (GO:0031593)|ubiquitin protein ligase binding (GO:0031625)|Y-form DNA binding (GO:0000403)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		CTGAAATTCACTCTTATGTTT	0.333								Rad6 pathway																														uc003brd.2		NA																	0				skin(3)|ovary(2)	5						c.(1042-1044)AGT>ATT	Rad6_pathway	postreplication repair protein hRAD18p							126.0	118.0	121.0					3																	8944189		2203	4299	6502	SO:0001583	missense	56852				DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding	g.chr3:8944189C>A		CCDS2571.1	3p25-p24	2014-08-04	2014-08-04		ENSG00000070950	ENSG00000070950		"""RING-type (C3HC4) zinc fingers"""	18278	protein-coding gene	gene with protein product		605256	"""RAD18 homolog (S. cerevisiae)"""			10884424, 10908344	Standard	NM_020165		Approved	RNF73	uc003brd.3	Q9NS91	OTTHUMG00000090545	ENST00000264926.2:c.1043G>T	3.37:g.8944189C>A	ENSP00000264926:p.Ser348Ile					RAD18_uc003bre.2_RNA	p.S348I	NM_020165	NP_064550	Q9NS91	RAD18_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0552)	10	1120	-			348					Q58F55|Q9NRT6	Missense_Mutation	SNP	ENST00000264926.2	37	c.1043G>T	CCDS2571.1	.	.	.	.	.	.	.	.	.	.	C	9.846	1.192313	0.21954	.	.	ENSG00000070950	ENST00000264926	T	0.26518	1.73	4.78	2.42	0.29668	.	0.224634	0.45126	D	0.000397	T	0.17789	0.0427	N	0.24115	0.695	0.29376	N	0.863642	P	0.48998	0.918	P	0.47015	0.534	T	0.06679	-1.0813	9	.	.	.	-14.9071	5.7997	0.18408	0.0:0.2203:0.0:0.7797	.	348	Q9NS91	RAD18_HUMAN	I	348	ENSP00000264926:S348I	.	S	-	2	0	RAD18	8919189	0.909000	0.30893	0.850000	0.33497	0.048000	0.14542	0.293000	0.19029	0.342000	0.23796	-0.471000	0.05019	AGT		0.333	RAD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207071.2	NM_020165		33	93	1	0	2.19e-23	2.98e-23	33	93				
ARPP21	10777	broad.mit.edu	37	3	35748546	35748546	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:35748546A>T	ENST00000187397.4	+	10	1223	c.767A>T	c.(766-768)aAc>aTc	p.N256I	ARPP21_ENST00000417925.1_Missense_Mutation_p.N256I|ARPP21_ENST00000444190.1_Missense_Mutation_p.N256I|ARPP21_ENST00000458225.1_Missense_Mutation_p.N256I|ARPP21_ENST00000337271.5_Missense_Mutation_p.N256I	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	256	SUZ. {ECO:0000255|PROSITE- ProRule:PRU01009}.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AAGCGAGATAACTCTAGTATT	0.398																																						uc003cgb.2		NA																	0				ovary(2)|skin(1)	3						c.(766-768)AAC>ATC		cyclic AMP-regulated phosphoprotein, 21 kD							97.0	101.0	100.0					3																	35748546		2203	4300	6503	SO:0001583	missense	10777					cytoplasm	nucleic acid binding	g.chr3:35748546A>T	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.767A>T	3.37:g.35748546A>T	ENSP00000187397:p.Asn256Ile					ARPP21_uc003cga.2_Missense_Mutation_p.N256I|ARPP21_uc011axy.1_Missense_Mutation_p.N256I|ARPP21_uc003cgf.2_Missense_Mutation_p.N92I	p.N256I	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN			10	1031	+			256					B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	37	c.767A>T	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	A	18.81	3.703684	0.68501	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	6.07	4.93	0.64822	SUZ domain (1);	0.048347	0.85682	D	0.000000	T	0.58366	0.2117	M	0.62723	1.935	0.50813	D	0.999898	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.71184	0.952;0.972;0.952	T	0.56220	-0.8015	10	0.36615	T	0.2	-19.5916	11.9491	0.52944	0.9329:0.0:0.0671:0.0	.	256;256;256	Q9UBL0-3;Q9UBL0;Q9UBL0-4	.;ARP21_HUMAN;.	I	256	ENSP00000414351:N256I;ENSP00000337792:N256I;ENSP00000405276:N256I;ENSP00000187397:N256I;ENSP00000412326:N256I	ENSP00000187397:N256I	N	+	2	0	ARPP21	35723550	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.563000	0.67352	1.128000	0.42052	0.533000	0.62120	AAC		0.398	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		36	71	0	0	0	0	36	71				
VILL	50853	broad.mit.edu	37	3	38035866	38035866	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:38035866C>A	ENST00000283713.6	+	4	516	c.250C>A	c.(250-252)Cag>Aag	p.Q84K	VILL_ENST00000383759.2_Missense_Mutation_p.Q84K|VILL_ENST00000465644.1_Intron			O15195	VILL_HUMAN	villin-like	84					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GCAGCGCCTACAGGACGAGCT	0.701																																						uc003chj.2		NA																	0					0						c.(250-252)CAG>AAG		villin-like protein							15.0	20.0	19.0					3																	38035866		2171	4264	6435	SO:0001583	missense	50853				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	g.chr3:38035866C>A		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.250C>A	3.37:g.38035866C>A	ENSP00000283713:p.Gln84Lys					VILL_uc003chk.1_Missense_Mutation_p.Q84K|VILL_uc003chl.2_Missense_Mutation_p.Q84K|VILL_uc010hgu.2_5'UTR	p.Q84K	NM_015873	NP_056957	O15195	VILL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	4	536	+			84					A8MZP1|Q9BT80|Q9BWH7	Missense_Mutation	SNP	ENST00000283713.6	37	c.250C>A	CCDS2670.2	.	.	.	.	.	.	.	.	.	.	C	15.01	2.706815	0.48412	.	.	ENSG00000136059	ENST00000283713;ENST00000416303;ENST00000492491;ENST00000383759;ENST00000356246	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	3.89	0.647	0.17796	Gelsolin domain (1);	0.485335	0.22892	N	0.054370	T	0.32194	0.0821	L	0.31294	0.92	0.31285	N	0.690071	B	0.06786	0.001	B	0.15052	0.012	T	0.31888	-0.9927	10	0.72032	D	0.01	-2.5896	8.3505	0.32299	0.1476:0.3279:0.5245:0.0	.	84	O15195	VILL_HUMAN	K	84	ENSP00000283713:Q84K;ENSP00000393661:Q84K;ENSP00000427355:Q84K;ENSP00000373266:Q84K	ENSP00000283713:Q84K	Q	+	1	0	VILL	38010870	1.000000	0.71417	0.000000	0.03702	0.003000	0.03518	3.174000	0.50847	0.381000	0.24851	0.563000	0.77884	CAG		0.701	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873		14	24	1	0	1.05e-09	1.28e-09	14	24				
NSUN3	63899	broad.mit.edu	37	3	93781974	93781974	+	Silent	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:93781974C>T	ENST00000314622.4	+	1	215	c.4C>T	c.(4-6)Ctg>Ttg	p.L2L	NSUN3_ENST00000485793.1_3'UTR|DHFRL1_ENST00000394221.2_5'UTR|DHFRL1_ENST00000481631.1_5'Flank|DHFRL1_ENST00000314636.2_5'Flank	NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN	NOP2/Sun domain family, member 3	2							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						CGGGACAATGCTGACCCAGGT	0.572																																						uc003drl.1		NA																	0				skin(1)	1						c.(4-6)CTG>TTG		NOL1/NOP2/Sun domain family, member 3							116.0	130.0	126.0					3																	93781974		2203	4300	6503	SO:0001819	synonymous_variant	63899						methyltransferase activity	g.chr3:93781974C>T	BC020602	CCDS2927.1	3q11.2	2009-11-23	2009-11-23		ENSG00000178694	ENSG00000178694		"""NOP2/Sun domain containing"""	26208	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family 3"", ""NOL1/NOP2/Sun domain family, member 3"""			12477932	Standard	NM_022072		Approved	FLJ22609	uc003drl.1	Q9H649	OTTHUMG00000159025	ENST00000314622.4:c.4C>T	3.37:g.93781974C>T						DHFRL1_uc003dri.2_5'Flank|DHFRL1_uc003drj.2_5'UTR|NSUN3_uc003drk.2_RNA	p.L2L	NM_022072	NP_071355	Q9H649	NSUN3_HUMAN			1	120	+			2					Q6PG41|Q8IXG9|Q9H6M2	Silent	SNP	ENST00000314622.4	37	c.4C>T	CCDS2927.1																																																																																				0.572	NSUN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352934.1	NM_022072		55	186	0	0	0	0	55	186				
DZIP3	9666	broad.mit.edu	37	3	108403092	108403092	+	Silent	SNP	G	G	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:108403092G>C	ENST00000361582.3	+	27	3143	c.2913G>C	c.(2911-2913)gtG>gtC	p.V971V	DZIP3_ENST00000463306.1_Silent_p.V971V	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	971					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GACCTCTTGTGAAAGAATCTT	0.413																																						uc003dxd.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2911-2913)GTG>GTC		DAZ interacting protein 3, zinc finger							137.0	157.0	150.0					3																	108403092		2203	4300	6503	SO:0001819	synonymous_variant	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108403092G>C	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.2913G>C	3.37:g.108403092G>C						DZIP3_uc003dxf.1_Silent_p.V971V|DZIP3_uc011bhm.1_Silent_p.V422V	p.V971V	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN			27	3335	+			971					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Silent	SNP	ENST00000361582.3	37	c.2913G>C	CCDS2952.1																																																																																				0.413	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		117	417	0	0	0	0	117	417				
FBXO40	51725	broad.mit.edu	37	3	121340297	121340297	+	Silent	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:121340297C>A	ENST00000338040.4	+	3	435	c.21C>A	c.(19-21)tcC>tcA	p.S7S		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	7					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CCCGCAGATCCCCGCCAGGGC	0.532																																						uc003eeg.2		NA																	0				ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(19-21)TCC>TCA		F-box protein 40							72.0	74.0	74.0					3																	121340297		2203	4300	6503	SO:0001819	synonymous_variant	51725				muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding	g.chr3:121340297C>A	AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"""F-boxes /  ""other"""""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.21C>A	3.37:g.121340297C>A							p.S7S	NM_016298	NP_057382	Q9UH90	FBX40_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	3	231	+			7					B2RAX7|Q32M70|Q9ULM5	Silent	SNP	ENST00000338040.4	37	c.21C>A	CCDS33835.1																																																																																				0.532	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355158.1	NM_016298		37	235	1	0	2.47e-13	3.14e-13	37	235				
CCDC14	64770	broad.mit.edu	37	3	123634533	123634533	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:123634533G>A	ENST00000488653.2	-	13	2045	c.1955C>T	c.(1954-1956)tCc>tTc	p.S652F	CCDC14_ENST00000310351.4_Missense_Mutation_p.S492F|CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000489746.1_Missense_Mutation_p.S452F|CCDC14_ENST00000433542.2_Missense_Mutation_p.S611F|CCDC14_ENST00000485727.1_Missense_Mutation_p.S452F			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	652					substantia nigra development (GO:0021762)	centrosome (GO:0005813)				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		ACTAAGATCGGAGAGAAGCTT	0.383																																						uc011bjx.1		NA																	0					0						c.(1954-1956)TCC>TTC		coiled-coil domain containing 14							96.0	101.0	100.0					3																	123634533		2203	4300	6503	SO:0001583	missense	64770					centrosome		g.chr3:123634533G>A	AL122079	CCDS3025.2	3q21.1	2014-03-20			ENSG00000175455	ENSG00000175455			25766	protein-coding gene	gene with protein product						12477932	Standard	NM_022757		Approved	FLJ12892, DKFZp434L1050	uc010hrt.3	Q49A88	OTTHUMG00000153005	ENST00000488653.2:c.1955C>T	3.37:g.123634533G>A	ENSP00000420180:p.Ser652Phe					CCDC14_uc003egv.3_Missense_Mutation_p.S293F|CCDC14_uc003egx.3_Missense_Mutation_p.S452F|CCDC14_uc010hrt.2_Missense_Mutation_p.S611F|CCDC14_uc003egy.3_Missense_Mutation_p.S452F|CCDC14_uc003egz.2_Intron	p.S652F	NM_022757	NP_073594	Q49A88	CCD14_HUMAN		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)	13	2046	-		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)	652					B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0	Missense_Mutation	SNP	ENST00000488653.2	37	c.1955C>T		.	.	.	.	.	.	.	.	.	.	G	16.41	3.116423	0.56505	.	.	ENSG00000175455	ENST00000488653;ENST00000310351;ENST00000485727;ENST00000489746;ENST00000433542;ENST00000409697	T;T;T;T;T;T	0.57907	0.37;0.37;0.37;0.37;0.37;0.37	5.32	5.32	0.75619	.	0.470389	0.19659	N	0.109021	T	0.62258	0.2413	L	0.59436	1.845	0.32078	N	0.593504	D;D;P	0.53885	0.963;0.963;0.937	P;P;P	0.53809	0.735;0.735;0.735	T	0.70490	-0.4857	10	0.72032	D	0.01	.	14.7651	0.69632	0.0:0.1439:0.8561:0.0	.	652;611;493	Q49A88;Q49A88-6;Q49A88-5	CCD14_HUMAN;.;.	F	652;492;452;452;611;633	ENSP00000420180:S652F;ENSP00000312031:S492F;ENSP00000418002:S452F;ENSP00000418403:S452F;ENSP00000395706:S611F;ENSP00000386866:S633F	ENSP00000312031:S492F	S	-	2	0	CCDC14	125117223	1.000000	0.71417	0.998000	0.56505	0.591000	0.36615	4.755000	0.62198	2.773000	0.95371	0.655000	0.94253	TCC		0.383	CCDC14-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_022757		70	187	0	0	0	0	70	187				
MED12L	116931	broad.mit.edu	37	3	151094808	151094808	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:151094808C>G	ENST00000474524.1	+	28	4091	c.4053C>G	c.(4051-4053)aaC>aaG	p.N1351K	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.N1211K	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1351						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AAATGAACAACTTACTGGACA	0.398																																						uc003eyp.2		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(4051-4053)AAC>AAG		mediator of RNA polymerase II transcription,							86.0	85.0	86.0					3																	151094808		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151094808C>G	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.4053C>G	3.37:g.151094808C>G	ENSP00000417235:p.Asn1351Lys					MED12L_uc011bnz.1_Missense_Mutation_p.N1211K|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.N514K	p.N1351K	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		28	4091	+			1351					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.4053C>G	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.109472	0.37242	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.59224	0.49;0.28	5.67	3.84	0.44239	.	0.310592	0.35970	N	0.002868	T	0.41673	0.1169	L	0.27053	0.805	0.80722	D	1	P;B;B	0.35139	0.486;0.069;0.041	B;B;B	0.31946	0.138;0.015;0.016	T	0.34329	-0.9833	10	0.62326	D	0.03	-26.4317	9.97	0.41747	0.0:0.7846:0.0:0.2154	.	1211;1350;1351	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	K	1351;1211	ENSP00000417235:N1351K;ENSP00000273432:N1211K	ENSP00000273432:N1211K	N	+	3	2	MED12L	152577498	1.000000	0.71417	0.702000	0.30337	0.999000	0.98932	1.256000	0.32921	0.693000	0.31634	0.655000	0.94253	AAC		0.398	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		22	82	0	0	0	0	22	82				
TIPARP	25976	broad.mit.edu	37	3	156411959	156411959	+	Silent	SNP	A	A	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:156411959A>T	ENST00000461166.1	+	3	1656	c.1068A>T	c.(1066-1068)ggA>ggT	p.G356G	TIPARP_ENST00000542783.1_Silent_p.G356G|TIPARP_ENST00000295924.7_Silent_p.G356G|TIPARP_ENST00000486483.1_Silent_p.G356G	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	356	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				androgen metabolic process (GO:0008209)|cellular response to organic cyclic compound (GO:0071407)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|multicellular organismal metabolic process (GO:0044236)|negative regulation of gene expression (GO:0010629)|nitrogen compound metabolic process (GO:0006807)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of protein catabolic process (GO:0045732)|post-embryonic development (GO:0009791)|protein ADP-ribosylation (GO:0006471)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculogenesis (GO:0001570)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ACCACTTTGGATGGAGAGAGT	0.373																																					Ovarian(171;276 1987 3319 6837 11197)	uc003fav.2		NA																	0				ovary(1)|breast(1)	2						c.(1066-1068)GGA>GGT		TCDD-inducible poly(ADP-ribose) polymerase							144.0	142.0	143.0					3																	156411959		2203	4300	6503	SO:0001819	synonymous_variant	25976						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr3:156411959A>T	BX537965	CCDS3177.1	3q25.31	2011-06-22			ENSG00000163659	ENSG00000163659		"""Poly (ADP-ribose) polymerases"""	23696	protein-coding gene	gene with protein product		612480				12851707	Standard	NM_001184717		Approved	DKFZP434J214, DKFZp686N0351, DDF1, PARP7, PARP-7, PARP-1, pART14, RM1	uc021xgg.1	Q7Z3E1	OTTHUMG00000158646	ENST00000461166.1:c.1068A>T	3.37:g.156411959A>T						TIPARP_uc003faw.2_Silent_p.G356G	p.G356G	NM_015508	NP_056323	Q7Z3E1	PARPT_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		3	1316	+			356			WWE.		D3DNK6|Q68CY9|Q86VP4|Q9Y4P7	Silent	SNP	ENST00000461166.1	37	c.1068A>T	CCDS3177.1	.	.	.	.	.	.	.	.	.	.	A	10.15	1.270957	0.23221	.	.	ENSG00000163659	ENST00000495891	.	.	.	5.04	-0.875	0.10628	.	.	.	.	.	T	0.39627	0.1085	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28202	-1.0051	4	.	.	.	.	0.873	0.01218	0.2465:0.3591:0.1699:0.2245	.	.	.	.	L	59	.	.	M	+	1	0	TIPARP	157894653	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.615000	0.36922	0.046000	0.15833	0.533000	0.62120	ATG		0.373	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351618.1	NM_015508		69	225	0	0	0	0	69	225				
LEKR1	389170	broad.mit.edu	37	3	156710895	156710895	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:156710895C>T	ENST00000470811.1	+	10	1361	c.26C>T	c.(25-27)tCt>tTt	p.S9F	LEKR1_ENST00000356539.4_Missense_Mutation_p.S313F			Q6ZMV7	LEKR1_HUMAN	leucine, glutamate and lysine rich 1	9										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AAAGAAGACTCTTTAATGACT	0.318																																						uc003fba.1		NA																	0					0						c.(25-27)TCT>TTT		leucine, glutamate and lysine rich 1							53.0	56.0	55.0					3																	156710895		2203	4296	6499	SO:0001583	missense	389170							g.chr3:156710895C>T	AK131473	CCDS54660.1	3q25.31	2014-02-12	2008-02-21		ENSG00000197980	ENSG00000197980			33765	protein-coding gene	gene with protein product		613536					Standard	NM_001004316		Approved	FLJ16641	uc021xgh.1	Q6ZMV7	OTTHUMG00000160130	ENST00000470811.1:c.26C>T	3.37:g.156710895C>T	ENSP00000418214:p.Ser9Phe						p.S9F	NM_001004316	NP_001004316	Q6ZMV7	LEKR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		10	1361	+			70						Missense_Mutation	SNP	ENST00000470811.1	37	c.26C>T		.	.	.	.	.	.	.	.	.	.	C	17.81	3.479888	0.63849	.	.	ENSG00000178110	ENST00000470811;ENST00000356539	T;T	0.52754	0.65;0.66	4.77	3.89	0.44902	.	0.000000	0.46442	D	0.000285	T	0.62196	0.2408	M	0.68952	2.095	0.36377	D	0.861672	D	0.71674	0.998	D	0.67548	0.952	T	0.70396	-0.4883	10	0.54805	T	0.06	-5.9688	11.1233	0.48304	0.0:0.9089:0.0:0.0911	.	9	Q6ZMV7	LEKR1_HUMAN	F	9;313	ENSP00000418214:S9F;ENSP00000348936:S313F	ENSP00000348936:S313F	S	+	2	0	LEKR1	158193589	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.046000	0.49846	2.199000	0.70637	0.585000	0.79938	TCT		0.318	LEKR1-010	KNOWN	upstream_ATG|basic	protein_coding	protein_coding	OTTHUMT00000351625.3	NM_001004316		22	87	0	0	0	0	22	87				
SLITRK3	22865	broad.mit.edu	37	3	164905718	164905718	+	Silent	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:164905718G>A	ENST00000475390.1	-	2	3344	c.2901C>T	c.(2899-2901)ctC>ctT	p.L967L	SLITRK3_ENST00000241274.3_Silent_p.L967L			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	967					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.L967L(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CCAGGACTTCGAGGTAATCCG	0.388										HNSCC(40;0.11)																												uc003fej.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(6)|skin(3)|pancreas(1)	10						c.(2899-2901)CTC>CTT		slit and trk like 3 protein precursor							140.0	138.0	139.0					3																	164905718		2203	4300	6503	SO:0001819	synonymous_variant	22865					integral to membrane		g.chr3:164905718G>A	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2901C>T	3.37:g.164905718G>A		HNSCC(40;0.11)				SLITRK3_uc003fek.2_Silent_p.L967L	p.L967L	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	3345	-			967			Cytoplasmic (Potential).		Q1RMY6	Silent	SNP	ENST00000475390.1	37	c.2901C>T	CCDS3197.1																																																																																				0.388	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		79	270	0	0	0	0	79	270				
SLITRK3	22865	broad.mit.edu	37	3	164906404	164906404	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:164906404C>T	ENST00000475390.1	-	2	2658	c.2215G>A	c.(2215-2217)Gtg>Atg	p.V739M	SLITRK3_ENST00000241274.3_Missense_Mutation_p.V739M			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	739					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TACTCATACACATGACCCACG	0.582										HNSCC(40;0.11)																												uc003fej.3		NA																	0				ovary(6)|skin(3)|pancreas(1)	10						c.(2215-2217)GTG>ATG		slit and trk like 3 protein precursor							69.0	63.0	65.0					3																	164906404		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164906404C>T	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2215G>A	3.37:g.164906404C>T	ENSP00000420091:p.Val739Met	HNSCC(40;0.11)				SLITRK3_uc003fek.2_Missense_Mutation_p.V739M	p.V739M	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	2659	-			739			Cytoplasmic (Potential).		Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.2215G>A	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971743	0.53614	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.60548	0.18;0.18	5.44	5.44	0.79542	.	0.000000	0.34268	N	0.004105	T	0.67850	0.2937	L	0.44542	1.39	0.51482	D	0.999928	D	0.69078	0.997	P	0.60789	0.879	T	0.68891	-0.5289	10	0.66056	D	0.02	-14.2365	18.1971	0.89826	0.0:1.0:0.0:0.0	.	739	O94933	SLIK3_HUMAN	M	739	ENSP00000420091:V739M;ENSP00000241274:V739M	ENSP00000241274:V739M	V	-	1	0	SLITRK3	166389098	1.000000	0.71417	0.915000	0.36163	0.623000	0.37688	5.768000	0.68858	2.832000	0.97577	0.655000	0.94253	GTG		0.582	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		43	112	0	0	0	0	43	112				
MFN1	55669	broad.mit.edu	37	3	179095193	179095193	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:179095193C>T	ENST00000471841.1	+	12	1412	c.1286C>T	c.(1285-1287)tCa>tTa	p.S429L	MFN1_ENST00000280653.7_Missense_Mutation_p.S429L|MFN1_ENST00000263969.5_Missense_Mutation_p.S429L	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	429					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)			GAATTTTGTTCAGAGTTTCAT	0.264																																						uc003fjs.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(1285-1287)TCA>TTA		mitofusin 1							79.0	81.0	80.0					3																	179095193		2203	4294	6497	SO:0001583	missense	55669				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	g.chr3:179095193C>T	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.1286C>T	3.37:g.179095193C>T	ENSP00000420617:p.Ser429Leu					MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Missense_Mutation_p.S457L|MFN1_uc010hxc.2_Missense_Mutation_p.S282L	p.S429L	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)		12	1412	+	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		429			Cytoplasmic (Potential).		B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Missense_Mutation	SNP	ENST00000471841.1	37	c.1286C>T	CCDS3228.1	.	.	.	.	.	.	.	.	.	.	C	9.072	0.997228	0.19043	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000539169;ENST00000263969;ENST00000474903	D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11	5.49	4.62	0.57501	.	0.212023	0.50627	D	0.000106	T	0.78130	0.4235	L	0.42581	1.335	0.40849	D	0.983738	B;P;P	0.40578	0.137;0.722;0.722	B;B;B	0.33454	0.052;0.164;0.118	T	0.74609	-0.3608	10	0.14252	T	0.57	-17.3024	10.6279	0.45519	0.0:0.7952:0.1326:0.0722	.	429;457;429	Q8IWA4-3;Q4AEJ4;Q8IWA4	.;.;MFN1_HUMAN	L	429;429;429;429;292	ENSP00000420617:S429L;ENSP00000280653:S429L;ENSP00000263969:S429L;ENSP00000419926:S292L	ENSP00000263969:S429L	S	+	2	0	MFN1	180577887	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	3.017000	0.49615	1.321000	0.45227	0.591000	0.81541	TCA		0.264	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927		32	123	0	0	0	0	32	123				
ATP11B	23200	broad.mit.edu	37	3	182602582	182602582	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:182602582G>C	ENST00000323116.5	+	22	2811	c.2551G>C	c.(2551-2553)Gac>Cac	p.D851H		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	851					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			AAGAAACAGTGACTATGCAAT	0.318																																						uc003flb.2		NA																	0				ovary(2)|pancreas(1)	3						c.(2551-2553)GAC>CAC		ATPase, class VI, type 11B							141.0	150.0	147.0					3																	182602582		2203	4300	6503	SO:0001583	missense	23200				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr3:182602582G>C	AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"""ATPases / P-type"""	13553	protein-coding gene	gene with protein product		605869	"""ATPase, Class VI, type 11B"""			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.2551G>C	3.37:g.182602582G>C	ENSP00000321195:p.Asp851His					ATP11B_uc003flc.2_Missense_Mutation_p.D435H|ATP11B_uc011bqm.1_Missense_Mutation_p.D155H|ATP11B_uc010hxf.1_Missense_Mutation_p.D13H	p.D851H	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)		22	2808	+	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		851			Cytoplasmic (Potential).		Q96FN1|Q9UKK7	Missense_Mutation	SNP	ENST00000323116.5	37	c.2551G>C	CCDS33896.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.769235	0.90020	.	.	ENSG00000058063	ENST00000323116;ENST00000482070	T;T	0.64085	-0.08;-0.08	5.72	5.72	0.89469	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.89357	0.6692	H	0.99435	4.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.93660	0.6981	10	0.87932	D	0	.	19.8628	0.96789	0.0:0.0:1.0:0.0	.	425;851	B3KSJ2;Q9Y2G3	.;AT11B_HUMAN	H	851;86	ENSP00000321195:D851H;ENSP00000417124:D86H	ENSP00000321195:D851H	D	+	1	0	ATP11B	184085276	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.409000	0.97331	2.692000	0.91855	0.585000	0.79938	GAC		0.318	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616		27	85	0	0	0	0	27	85				
FETUB	26998	broad.mit.edu	37	3	186358267	186358267	+	Silent	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:186358267C>T	ENST00000265029.3	+	1	119	c.18C>T	c.(16-18)ccC>ccT	p.P6P	RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000488561.1_3'UTR|FETUB_ENST00000450521.1_Silent_p.P6P|FETUB_ENST00000382136.3_Silent_p.P6P|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000539949.1_Intron|FETUB_ENST00000382134.3_Silent_p.P6P	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	6					binding of sperm to zona pellucida (GO:0007339)|negative regulation of endopeptidase activity (GO:0010951)|single fertilization (GO:0007338)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		TGCTCCTTCCCCTGGCACTCT	0.597																																						uc010hyq.2		NA																	0				ovary(1)|lung(1)	2						c.(16-18)CCC>CCT		fetuin B precursor							143.0	136.0	138.0					3																	186358267		2203	4300	6503	SO:0001819	synonymous_variant	26998					extracellular space	cysteine-type endopeptidase inhibitor activity	g.chr3:186358267C>T	AJ242928	CCDS3279.1	3q27.3	2008-05-15			ENSG00000090512	ENSG00000090512			3658	protein-coding gene	gene with protein product		605954				10947975	Standard	XM_005247350		Approved		uc003fqn.3	Q9UGM5	OTTHUMG00000156586	ENST00000265029.3:c.18C>T	3.37:g.186358267C>T						FETUB_uc011brz.1_Intron|FETUB_uc003fqn.2_Silent_p.P6P|FETUB_uc003fqo.2_5'UTR|FETUB_uc010hyr.2_Silent_p.P6P|FETUB_uc010hys.2_5'UTR|FETUB_uc003fqp.3_Silent_p.P6P	p.P6P	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)	2	279	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		6					B2RCW6|E9PG06|Q1RMZ0|Q5J876|Q6DK58|Q6GRB6|Q9Y6Z0	Silent	SNP	ENST00000265029.3	37	c.18C>T	CCDS3279.1																																																																																				0.597	FETUB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344679.1	NM_014375		65	391	0	0	0	0	65	391				
ZNF595	152687	broad.mit.edu	37	4	59413	59413	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:59413G>T	ENST00000509152.2	+	2	279	c.94G>T	c.(94-96)Gtg>Ttg	p.V32L	ZNF595_ENST00000526473.2_Missense_Mutation_p.V32L|ZNF595_ENST00000339368.6_3'UTR			Q8IYB9	ZN595_HUMAN	zinc finger protein 595	32	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		GTATAGAGATGTGATGTTGGA	0.433																																						uc003fzv.1		NA																	0					0						c.(94-96)GTG>TTG		zinc finger protein 595							387.0	420.0	409.0					4																	59413		2203	4300	6503	SO:0001583	missense	152687				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr4:59413G>T	BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"""Zinc fingers, C2H2-type"", ""-"""	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000509152.2:c.94G>T	4.37:g.59413G>T	ENSP00000434858:p.Val32Leu					ZNF595_uc003fzu.1_RNA|ZNF718_uc003fzt.3_Missense_Mutation_p.V32L|ZNF595_uc010iay.1_RNA|ZNF595_uc011bus.1_5'UTR|ZNF595_uc011but.1_Intron	p.V32L	NM_182524	NP_872330	Q7Z3I0	Q7Z3I0_HUMAN		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)	2	250	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)	32						Missense_Mutation	SNP	ENST00000509152.2	37	c.94G>T		.	.	.	.	.	.	.	.	.	.	G	14.73	2.621705	0.46736	.	.	ENSG00000197701	ENST00000509152;ENST00000526473	T;T	0.03801	3.8;3.8	1.26	1.26	0.21427	Krueppel-associated box (8);	.	.	.	.	T	0.13756	0.0333	.	.	.	0.23802	N	0.996803	D;D	0.89917	1.0;0.997	D;D	0.85130	0.997;0.994	T	0.12915	-1.0529	8	0.87932	D	0	.	3.6033	0.08032	0.2708:0.0:0.7292:0.0	.	32;32	Q8IYB9;Q3SXZ3	ZN595_HUMAN;ZN718_HUMAN	L	32	ENSP00000434858:V32L;ENSP00000437878:V32L	ENSP00000434858:V32L	V	+	1	0	ZNF595	49413	0.893000	0.30496	0.236000	0.24074	0.165000	0.22458	0.413000	0.21148	0.655000	0.30866	0.484000	0.47621	GTG		0.433	ZNF595-004	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000357817.2	NM_182524		43	546	1	0	2.25e-16	2.93e-16	43	546				
KIAA1211	57482	broad.mit.edu	37	4	57182340	57182340	+	Missense_Mutation	SNP	G	G	A	rs370003322		TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:57182340G>A	ENST00000504228.1	+	6	2777	c.2672G>A	c.(2671-2673)gGa>gAa	p.G891E	KIAA1211_ENST00000541073.1_Missense_Mutation_p.G884E|KIAA1211_ENST00000264229.6_Missense_Mutation_p.G891E			Q6ZU35	K1211_HUMAN	KIAA1211	891										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AGCGCTCGTGGAGAGAAAGAG	0.627																																						uc003hbk.2		NA																	0				ovary(1)|skin(1)	2						c.(2671-2673)GGA>GAA		hypothetical protein LOC57482		G	GLU/GLY	0,4272		0,0,2136	35.0	46.0	42.0		2672	-0.8	0.0	4		42	1,8533		0,1,4266	no	missense	KIAA1211	NM_020722.1	98	0,1,6402	AA,AG,GG		0.0117,0.0,0.0078	probably-damaging	891/1234	57182340	1,12805	2136	4267	6403	SO:0001583	missense	57482							g.chr4:57182340G>A	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.2672G>A	4.37:g.57182340G>A	ENSP00000423366:p.Gly891Glu					KIAA1211_uc010iha.2_Missense_Mutation_p.G884E|KIAA1211_uc011bzz.1_Missense_Mutation_p.G801E|KIAA1211_uc003hbm.1_Missense_Mutation_p.G777E	p.G891E	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN			8	3063	+	Glioma(25;0.08)|all_neural(26;0.101)		891					Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.2672G>A	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.771687	0.49680	0.0	1.17E-4	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.13089	2.63;2.63;2.62	4.59	-0.789	0.10935	.	.	.	.	.	T	0.25044	0.0608	L	0.59436	1.845	0.09310	N	1	D;D;D	0.76494	0.996;0.996;0.999	D;D;D	0.72075	0.923;0.923;0.976	T	0.12167	-1.0558	9	0.62326	D	0.03	-4.7759	3.2704	0.06879	0.1617:0.4087:0.3038:0.1259	.	884;884;891	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	E	891;891;884;801	ENSP00000264229:G891E;ENSP00000423366:G891E;ENSP00000444006:G884E	ENSP00000264229:G891E	G	+	2	0	KIAA1211	56877097	0.001000	0.12720	0.000000	0.03702	0.020000	0.10135	0.486000	0.22340	-0.323000	0.08602	0.561000	0.74099	GGA		0.627	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		7	35	0	0	0	0	7	35				
SMR3A	26952	broad.mit.edu	37	4	71232413	71232413	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:71232413C>A	ENST00000226460.4	+	3	203	c.107C>A	c.(106-108)gCt>gAt	p.A36D		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	36	Pro-rich.					extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				GGACCACTGGCTCCTCCTCCT	0.488																																						uc003hfg.1		NA																	0					0						c.(106-108)GCT>GAT		submaxillary gland androgen regulated protein 3							82.0	78.0	79.0					4																	71232413		2203	4300	6503	SO:0001583	missense	26952					extracellular region		g.chr4:71232413C>A	D89501	CCDS34000.1	4q13.3	2009-04-17	2008-02-27	2005-02-07	ENSG00000109208	ENSG00000109208			19216	protein-coding gene	gene with protein product			"""proline rich 5 (salivary)"", ""submaxillary gland androgen regulated protein 3 homolog A (mouse)"""	PROL5		9354371, 17512016	Standard	NM_012390		Approved	PBI, PRL5	uc003hfg.1	Q99954	OTTHUMG00000160839	ENST00000226460.4:c.107C>A	4.37:g.71232413C>A	ENSP00000226460:p.Ala36Asp					SMR3B_uc011cas.1_Intron	p.A36D	NM_012390	NP_036522	Q99954	SMR3A_HUMAN			3	188	+		all_hematologic(202;0.196)	36			Pro-rich.			Missense_Mutation	SNP	ENST00000226460.4	37	c.107C>A	CCDS34000.1	.	.	.	.	.	.	.	.	.	.	C	3.879	-0.026308	0.07589	.	.	ENSG00000109208	ENST00000226460	T	0.25085	1.82	2.82	-1.27	0.09347	.	.	.	.	.	T	0.13628	0.0330	N	0.22421	0.69	0.09310	N	1	B	0.17667	0.023	B	0.10450	0.005	T	0.35400	-0.9790	9	0.18710	T	0.47	.	6.7641	0.23556	0.0:0.5223:0.0:0.4777	.	36	Q99954	SMR3A_HUMAN	D	36	ENSP00000226460:A36D	ENSP00000226460:A36D	A	+	2	0	SMR3A	71267002	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.808000	0.04515	-0.357000	0.08175	-0.409000	0.06214	GCT		0.488	SMR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362574.1	NM_012390		46	162	1	0	1.19e-25	1.63e-25	46	162				
SLC9B2	133308	broad.mit.edu	37	4	103988651	103988651	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:103988651C>A	ENST00000394785.3	-	2	688	c.57G>T	c.(55-57)atG>atT	p.M19I	SLC9B2_ENST00000503230.1_Missense_Mutation_p.M19I|SLC9B2_ENST00000362026.3_Missense_Mutation_p.M19I|SLC9B2_ENST00000339611.4_Missense_Mutation_p.M19I|SLC9B2_ENST00000503103.1_Missense_Mutation_p.M19I|SLC9B2_ENST00000505838.1_5'UTR	NM_178833.4	NP_849155.2	Q86UD5	SL9B2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	19					ion transmembrane transport (GO:0034220)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	solute:proton antiporter activity (GO:0015299)										GCGTGTAATTCATTCCTGTGG	0.363																																						uc003hwx.3		NA																	0					0						c.(55-57)ATG>ATT		Na+/H+ exchanger domain containing 2							287.0	242.0	257.0					4																	103988651		2203	4300	6503	SO:0001583	missense	133308				sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity	g.chr4:103988651C>A	AK172823	CCDS3662.1, CCDS75173.1, CCDS75174.1	4q24	2013-05-22	2012-03-22	2011-08-03	ENSG00000164038	ENSG00000164038		"""Solute carriers"""	25143	protein-coding gene	gene with protein product		611789	"""Na+/H+ exchanger domain containing 2"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 2"""	NHEDC2		18600791	Standard	XM_005262758		Approved	FLJ23984, NHA2	uc003hwy.3	Q86UD5	OTTHUMG00000131125	ENST00000394785.3:c.57G>T	4.37:g.103988651C>A	ENSP00000378265:p.Met19Ile					NHEDC2_uc003hwy.2_Missense_Mutation_p.M19I|NHEDC2_uc011cew.1_Missense_Mutation_p.M19I|NHEDC2_uc011cex.1_Missense_Mutation_p.M19I|NHEDC2_uc011cey.1_Missense_Mutation_p.M19I	p.M19I	NM_178833	NP_849155	Q86UD5	NHDC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.3e-08)	2	929	-			19					B5ME52|Q6ZMD8|Q96D95	Missense_Mutation	SNP	ENST00000394785.3	37	c.57G>T	CCDS3662.1	.	.	.	.	.	.	.	.	.	.	C	7.157	0.584887	0.13749	.	.	ENSG00000164038	ENST00000362026;ENST00000339611;ENST00000394785;ENST00000503103;ENST00000503230;ENST00000503818	T;T;T;T;T	0.20463	2.12;2.09;2.12;2.07;2.12	3.67	1.88	0.25563	.	1.149520	0.06420	N	0.722250	T	0.13415	0.0325	N	0.22421	0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.34304	-0.9834	10	0.23302	T	0.38	3.0912	5.1434	0.14971	0.0:0.6592:0.2213:0.1195	.	19;19;19	B7Z676;E9PE63;Q86UD5	.;.;SL9B2_HUMAN	I	19	ENSP00000354574:M19I;ENSP00000345241:M19I;ENSP00000378265:M19I;ENSP00000425385:M19I;ENSP00000422477:M19I	ENSP00000345241:M19I	M	-	3	0	SLC9B2	104208100	0.000000	0.05858	0.001000	0.08648	0.112000	0.19704	-0.042000	0.12063	0.504000	0.28082	0.655000	0.94253	ATG		0.363	SLC9B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253805.1	NM_178833		51	144	1	0	7.71e-15	9.86e-15	51	144				
INTS12	57117	broad.mit.edu	37	4	106604207	106604207	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:106604207C>T	ENST00000451321.2	-	7	1551	c.1072G>A	c.(1072-1074)Gta>Ata	p.V358I	INTS12_ENST00000394735.1_Missense_Mutation_p.V358I|INTS12_ENST00000340139.5_Missense_Mutation_p.V358I	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	358	Ser-rich.				snRNA processing (GO:0016180)	integrator complex (GO:0032039)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		TTTAAAGGTACAGTGGGCGTA	0.463																																						uc003hxw.2		NA																	0					0						c.(1072-1074)GTA>ATA		integrator complex subunit 12							239.0	215.0	223.0					4																	106604207		2203	4300	6503	SO:0001583	missense	57117				snRNA processing	integrator complex	protein binding|zinc ion binding	g.chr4:106604207C>T		CCDS3671.1	4q24	2013-01-28	2006-03-15	2006-03-15	ENSG00000138785	ENSG00000138785		"""Zinc fingers, PHD-type"""	25067	protein-coding gene	gene with protein product	"""hypothetical nuclear factor SBBI22"""	611355	"""PHD finger protein 22"""	PHF22		16239144	Standard	NM_020395		Approved	SBBI22, INT12	uc010ilr.3	Q96CB8	OTTHUMG00000131215	ENST00000451321.2:c.1072G>A	4.37:g.106604207C>T	ENSP00000415433:p.Val358Ile					INTS12_uc010ilr.2_Missense_Mutation_p.V358I	p.V358I	NM_020395	NP_065128	Q96CB8	INT12_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)	8	1330	-			358			Ser-rich.		B2RC48|Q3B6Z3|Q9HD71	Missense_Mutation	SNP	ENST00000451321.2	37	c.1072G>A	CCDS3671.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.919866	0.33908	.	.	ENSG00000138785	ENST00000394735;ENST00000340139;ENST00000451321	T;T;T	0.52295	0.67;0.67;0.67	4.61	2.89	0.33648	.	0.408346	0.26203	N	0.025740	T	0.27349	0.0671	N	0.17082	0.46	0.32367	N	0.556349	B	0.06786	0.001	B	0.04013	0.001	T	0.22487	-1.0215	10	0.22109	T	0.4	-4.5708	8.2771	0.31879	0.0:0.7676:0.0:0.2324	.	358	Q96CB8	INT12_HUMAN	I	358	ENSP00000378221:V358I;ENSP00000340737:V358I;ENSP00000415433:V358I	ENSP00000340737:V358I	V	-	1	0	INTS12	106823656	1.000000	0.71417	0.435000	0.26784	0.194000	0.23727	3.376000	0.52417	0.567000	0.29293	0.563000	0.77884	GTA		0.463	INTS12-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318624.1	NM_020395		78	240	0	0	0	0	78	240				
CFI	3426	broad.mit.edu	37	4	110667391	110667391	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:110667391C>G	ENST00000394634.2	-	11	1623	c.1416G>C	c.(1414-1416)tgG>tgC	p.W472C	CFI_ENST00000512148.1_Missense_Mutation_p.W465C|CFI_ENST00000394635.3_Missense_Mutation_p.W480C	NM_000204.3	NP_000195	P05156	CFAI_HUMAN	complement factor I	472	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TTTCTCGTCCCCAGCCAGAAA	0.418																																						uc003hzr.3		NA																	0					0						c.(1414-1416)TGG>TGC		complement factor I preproprotein							104.0	97.0	100.0					4																	110667391		2203	4300	6503	SO:0001583	missense	3426				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr4:110667391C>G	J02770	CCDS34049.1	4q25	2014-09-17	2006-02-10	2006-02-10		ENSG00000205403	3.4.21.45	"""Complement system"""	5394	protein-coding gene	gene with protein product	"""Konglutinogen-activating factor"", ""C3b-inactivator"""	217030	"""I factor (complement)"""	IF		2956252	Standard	NM_000204		Approved	FI, C3b-INA, KAF	uc003hzr.4	P05156		ENST00000394634.2:c.1416G>C	4.37:g.110667391C>G	ENSP00000378130:p.Trp472Cys					CFI_uc003hzq.2_Missense_Mutation_p.W269C|CFI_uc011cft.1_Missense_Mutation_p.W480C|CFI_uc003hzs.3_Missense_Mutation_p.W465C	p.W472C	NM_000204	NP_000195	P05156	CFAI_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000331)	11	1624	-		Hepatocellular(203;0.217)	472			Peptidase S1.		O60442	Missense_Mutation	SNP	ENST00000394634.2	37	c.1416G>C	CCDS34049.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303797	0.40795	.	.	ENSG00000205403	ENST00000394635;ENST00000394634;ENST00000512148	D;D;D	0.97256	-4.31;-4.31;-4.31	5.73	3.86	0.44501	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.423808	0.27627	N	0.018530	D	0.98985	0.9654	H	0.99225	4.475	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.999	D;D;D	0.77557	0.911;0.99;0.961	D	0.97974	1.0345	10	0.87932	D	0	-4.4686	9.3949	0.38397	0.1412:0.7848:0.0:0.074	.	480;465;472	E7ETH0;G3XAM2;P05156	.;.;CFAI_HUMAN	C	480;472;465	ENSP00000378131:W480C;ENSP00000378130:W472C;ENSP00000427438:W465C	ENSP00000378130:W472C	W	-	3	0	CFI	110886840	1.000000	0.71417	1.000000	0.80357	0.314000	0.28054	3.041000	0.49807	2.716000	0.92895	0.558000	0.71614	TGG		0.418	CFI-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_000204		29	89	0	0	0	0	29	89				
NDST4	64579	broad.mit.edu	37	4	115858571	115858571	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:115858571C>A	ENST00000264363.2	-	5	1988	c.1310G>T	c.(1309-1311)tGg>tTg	p.W437L		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	437	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GACCTTCTTCCAAGCTGCATA	0.483																																						uc003ibu.2		NA																	0				skin(3)|ovary(1)	4						c.(1309-1311)TGG>TTG		heparan sulfate N-deacetylase/N-sulfotransferase							157.0	145.0	150.0					4																	115858571		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115858571C>A	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1310G>T	4.37:g.115858571C>A	ENSP00000264363:p.Trp437Leu					NDST4_uc010imw.2_RNA	p.W437L	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	5	1989	-		Ovarian(17;0.156)	437			Lumenal (Potential).|Heparan sulfate N-deacetylase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.1310G>T	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.919249	0.92249	.	.	ENSG00000138653	ENST00000264363	T	0.51325	0.71	5.77	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.68393	0.2996	M	0.85710	2.77	0.80722	D	1	P	0.51057	0.941	P	0.59012	0.85	T	0.74134	-0.3763	10	0.62326	D	0.03	.	14.549	0.68052	0.0:0.93:0.0:0.07	.	437	Q9H3R1	NDST4_HUMAN	L	437	ENSP00000264363:W437L	ENSP00000264363:W437L	W	-	2	0	NDST4	116078020	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.782000	0.85680	1.417000	0.47077	0.655000	0.94253	TGG		0.483	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		43	133	1	0	8.16e-20	1.09e-19	43	133				
ADAD1	132612	broad.mit.edu	37	4	123336765	123336765	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:123336765C>A	ENST00000296513.2	+	11	1666	c.1481C>A	c.(1480-1482)aCt>aAt	p.T494N	ADAD1_ENST00000388724.2_Missense_Mutation_p.T483N|ADAD1_ENST00000388725.2_Missense_Mutation_p.T476N	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	494	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						GGGAAGATCACTGAAAGGTTA	0.323																																						uc003ieo.2		NA																	0					0						c.(1480-1482)ACT>AAT		adenosine deaminase domain containing 1							90.0	91.0	91.0					4																	123336765		2203	4300	6503	SO:0001583	missense	132612				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding	g.chr4:123336765C>A	AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.1481C>A	4.37:g.123336765C>A	ENSP00000296513:p.Thr494Asn					ADAD1_uc003iep.2_Missense_Mutation_p.T483N|ADAD1_uc003ieq.2_Missense_Mutation_p.T476N	p.T494N	NM_139243	NP_640336	Q96M93	ADAD1_HUMAN			11	1713	+			494			A to I editase.		A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Missense_Mutation	SNP	ENST00000296513.2	37	c.1481C>A	CCDS34058.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419730	0.62622	.	.	ENSG00000164113	ENST00000296513;ENST00000388724;ENST00000388725	D;D;D	0.93426	-3.22;-3.22;-3.22	5.02	5.02	0.67125	Adenosine deaminase/editase (3);	0.224065	0.43416	D	0.000574	D	0.94298	0.8168	L	0.53729	1.69	0.43787	D	0.996324	B;D	0.76494	0.067;0.999	B;D	0.67231	0.064;0.95	D	0.91826	0.5471	10	0.18276	T	0.48	-23.9787	11.7989	0.52116	0.0:0.919:0.0:0.081	.	483;494	Q96M93-2;Q96M93	.;ADAD1_HUMAN	N	494;483;476	ENSP00000296513:T494N;ENSP00000373376:T483N;ENSP00000373377:T476N	ENSP00000296513:T494N	T	+	2	0	ADAD1	123556215	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.927000	0.48900	2.335000	0.79485	0.655000	0.94253	ACT		0.323	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1	NM_139243		52	196	1	0	3.95e-17	5.18e-17	52	196				
INPP4B	8821	broad.mit.edu	37	4	143350367	143350367	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:143350367A>G	ENST00000513000.1	-	6	528	c.95T>C	c.(94-96)aTc>aCc	p.I32T	INPP4B_ENST00000506217.1_Missense_Mutation_p.I32T|INPP4B_ENST00000508116.1_Missense_Mutation_p.I32T|INPP4B_ENST00000262992.4_Missense_Mutation_p.I32T|INPP4B_ENST00000507861.1_Missense_Mutation_p.I32T|INPP4B_ENST00000308502.4_Missense_Mutation_p.I32T|INPP4B_ENST00000509777.1_Missense_Mutation_p.I32T	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	32	C2.				cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					AGTCTTCTGGATACCTATAAA	0.274																																						uc003iix.3		NA																	0				ovary(1)|lung(1)	2						c.(94-96)ATC>ACC		inositol polyphosphate-4-phosphatase, type II,							20.0	21.0	21.0					4																	143350367		2185	4263	6448	SO:0001583	missense	8821				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr4:143350367A>G	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.95T>C	4.37:g.143350367A>G	ENSP00000425487:p.Ile32Thr					INPP4B_uc003iiw.3_Missense_Mutation_p.I32T|INPP4B_uc011chm.1_RNA|INPP4B_uc011cho.1_RNA|INPP4B_uc003iiz.2_RNA	p.I32T	NM_003866	NP_003857	O15327	INP4B_HUMAN			6	690	-	all_hematologic(180;0.158)		32			C2.		Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	ENST00000513000.1	37	c.95T>C	CCDS3757.1	.	.	.	.	.	.	.	.	.	.	A	14.98	2.696151	0.48202	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000508116;ENST00000509777;ENST00000510812;ENST00000506217;ENST00000506788;ENST00000507861;ENST00000503927	T;T;T;T;T;T	0.32753	1.87;1.87;1.87;1.87;1.86;1.44	5.32	5.32	0.75619	C2 calcium/lipid-binding domain, CaLB (1);	0.069405	0.56097	D	0.000027	T	0.28797	0.0714	L	0.40543	1.245	0.39293	D	0.964761	P	0.40731	0.728	B	0.41332	0.354	T	0.07046	-1.0793	10	0.22109	T	0.4	.	15.5685	0.76313	1.0:0.0:0.0:0.0	.	32	O15327	INP4B_HUMAN	T	32	ENSP00000425487:I32T;ENSP00000262992:I32T;ENSP00000308441:I32T;ENSP00000423954:I32T;ENSP00000422793:I32T;ENSP00000427250:I32T	ENSP00000262992:I32T	I	-	2	0	INPP4B	143569817	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	6.173000	0.71937	2.128000	0.65567	0.482000	0.46254	ATC		0.274	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866		15	30	0	0	0	0	15	30				
POU4F2	5458	broad.mit.edu	37	4	147561057	147561057	+	Silent	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:147561057C>A	ENST00000281321.3	+	2	575	c.327C>A	c.(325-327)gcC>gcA	p.A109A	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	109					axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					GTCTGCTGGCCCGCGCCGAGG	0.602																																						uc003ikv.2		NA																	0				breast(1)	1						c.(325-327)GCC>GCA		Brn3b POU domain transcription factor							44.0	69.0	61.0					4																	147561057		2202	4299	6501	SO:0001819	synonymous_variant	5458				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr4:147561057C>A	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.327C>A	4.37:g.147561057C>A							p.A109A	NM_004575	NP_004566	Q12837	PO4F2_HUMAN			2	575	+	all_hematologic(180;0.151)		109					B1PJR6|B2RC84|Q13883|Q14987	Silent	SNP	ENST00000281321.3	37	c.327C>A	CCDS34074.1																																																																																				0.602	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		8	26	1	0	9.7e-10	1.19e-09	8	26				
TTC29	83894	broad.mit.edu	37	4	147741347	147741347	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:147741347G>A	ENST00000325106.4	-	10	1257	c.1031C>T	c.(1030-1032)gCa>gTa	p.A344V	TTC29_ENST00000513335.1_Missense_Mutation_p.A370V|TTC29_ENST00000398886.4_Missense_Mutation_p.A370V	NM_031956.2	NP_114162.2	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	344										breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					ATTGTTTCTTGCAATTTTCAC	0.333																																						uc003ikw.3		NA																	0					0						c.(1030-1032)GCA>GTA		tetratricopeptide repeat domain 29							111.0	105.0	107.0					4																	147741347		1813	4081	5894	SO:0001583	missense	83894						binding	g.chr4:147741347G>A	AF345910	CCDS47141.1, CCDS75200.1	4q31.23	2013-01-11				ENSG00000137473		"""Tetratricopeptide (TTC) repeat domain containing"""	29936	protein-coding gene	gene with protein product						12477932	Standard	NM_031956		Approved	NYD-SP14	uc003ikw.4	Q8NA56		ENST00000325106.4:c.1031C>T	4.37:g.147741347G>A	ENSP00000316740:p.Ala344Val					TTC29_uc010ipc.2_RNA|TTC29_uc003ikx.3_Missense_Mutation_p.A370V|TTC29_uc010ipd.1_Missense_Mutation_p.A344V	p.A344V	NM_031956	NP_114162	Q8NA56	TTC29_HUMAN			10	1258	-	all_hematologic(180;0.151)		344			TPR 4.		A4GU95|Q9BXB6	Missense_Mutation	SNP	ENST00000325106.4	37	c.1031C>T	CCDS47141.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.638245	0.67130	.	.	ENSG00000137473	ENST00000513335;ENST00000398886;ENST00000325106;ENST00000504425	T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02	5.91	5.06	0.68205	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.242690	0.40728	N	0.001033	T	0.82061	0.4955	M	0.79258	2.445	0.32495	N	0.539701	P;B;P	0.34864	0.473;0.169;0.473	B;B;B	0.41860	0.368;0.091;0.368	D	0.87220	0.2253	10	0.72032	D	0.01	-4.1785	15.2975	0.73922	0.0674:0.0:0.9326:0.0	.	344;370;344	E7EQ14;G5E9Z5;Q8NA56	.;.;TTC29_HUMAN	V	370;370;344;344	ENSP00000423505:A370V;ENSP00000381861:A370V;ENSP00000316740:A344V;ENSP00000425778:A344V	ENSP00000316740:A344V	A	-	2	0	TTC29	147960797	1.000000	0.71417	0.561000	0.28357	0.960000	0.62799	4.799000	0.62517	1.499000	0.48617	0.650000	0.86243	GCA		0.333	TTC29-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_031956		8	108	0	0	0	0	8	108				
LRAT	9227	broad.mit.edu	37	4	155670238	155670238	+	Missense_Mutation	SNP	A	A	G	rs140421566	byFrequency	TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:155670238A>G	ENST00000336356.3	+	3	896	c.643A>G	c.(643-645)Act>Gct	p.T215A	LRAT_ENST00000507827.1_Missense_Mutation_p.T215A	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	215					phototransduction, visible light (GO:0007603)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)	phosphatidylcholine-retinol O-acyltransferase activity (GO:0047173)|retinoic acid binding (GO:0001972)|retinol binding (GO:0019841)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	GGTATCATACACTACCCTTCC	0.403													A|||	6	0.00119808	0.0	0.0	5008	,	,		18373	0.006		0.0	False		,,,				2504	0.0					uc003iom.1		NA																	0				central_nervous_system(1)	1						c.(643-645)ACT>GCT		lecithin retinol acyltransferase	Vitamin A(DB00162)						258.0	229.0	239.0					4																	155670238		2203	4300	6503	SO:0001583	missense	9227				response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity	g.chr4:155670238A>G	AF071510	CCDS3789.1	4q32.1	2014-01-28			ENSG00000121207	ENSG00000121207	2.3.1.135		6685	protein-coding gene	gene with protein product		604863				9920938	Standard	XM_006714412		Approved	LCA14	uc003ion.1	O95237	OTTHUMG00000161418	ENST00000336356.3:c.643A>G	4.37:g.155670238A>G	ENSP00000337224:p.Thr215Ala					LRAT_uc003ion.1_Missense_Mutation_p.T215A	p.T215A	NM_004744	NP_004735	O95237	LRAT_HUMAN			2	970	+	all_hematologic(180;0.215)	Renal(120;0.0458)	215			Helical; (Potential).		A8K983|Q8N716	Missense_Mutation	SNP	ENST00000336356.3	37	c.643A>G	CCDS3789.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	A	8.820	0.937250	0.18206	.	.	ENSG00000121207	ENST00000507827;ENST00000336356	T;T	0.49432	0.78;0.78	5.81	3.41	0.39046	.	0.298730	0.40554	N	0.001061	T	0.45875	0.1364	M	0.65498	2.005	0.09310	N	1	B	0.25563	0.129	B	0.28139	0.086	T	0.44498	-0.9324	10	0.59425	D	0.04	-19.5214	9.7911	0.40706	0.8616:0.0:0.1384:0.0	.	215	O95237	LRAT_HUMAN	A	215	ENSP00000426761:T215A;ENSP00000337224:T215A	ENSP00000337224:T215A	T	+	1	0	LRAT	155889688	0.808000	0.29022	0.021000	0.16686	0.059000	0.15707	2.881000	0.48538	0.480000	0.27534	0.533000	0.62120	ACT		0.403	LRAT-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365246.1	NM_004744		63	276	0	0	0	0	63	276				
SORBS2	8470	broad.mit.edu	37	4	186544587	186544587	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:186544587G>T	ENST00000284776.7	-	13	2493	c.1984C>A	c.(1984-1986)Ccg>Acg	p.P662T	SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.P566T|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.P762T|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000431808.1_Missense_Mutation_p.P662T	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	662					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TAGGAGGCCGGGCACCTGCCT	0.552																																					Esophageal Squamous(153;41 2433 9491 36028)	uc003iyl.2		NA																	0				ovary(1)	1						c.(1984-1986)CCG>ACG		sorbin and SH3 domain containing 2 isoform 2							78.0	82.0	80.0					4																	186544587		2203	4300	6503	SO:0001583	missense	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186544587G>T		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.1984C>A	4.37:g.186544587G>T	ENSP00000284776:p.Pro662Thr					SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Missense_Mutation_p.P762T|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Missense_Mutation_p.P566T|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Missense_Mutation_p.P776T|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron	p.P662T	NM_021069	NP_066547	O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	13	2842	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	662					A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	37	c.1984C>A	CCDS3845.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.755672	0.69648	.	.	ENSG00000154556	ENST00000284776;ENST00000431808;ENST00000418609;ENST00000355634	T;T;T;T	0.74421	-0.71;-0.71;-0.72;-0.84	5.88	5.88	0.94601	Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	D	0.86213	0.5879	M	0.68593	2.085	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.996;0.997	D	0.86335	0.1701	10	0.87932	D	0	-19.7709	20.2405	0.98372	0.0:0.0:1.0:0.0	.	566;762;662	B7Z3X6;B3KPQ7;O94875	.;.;SRBS2_HUMAN	T	662;662;566;762	ENSP00000284776:P662T;ENSP00000411764:P662T;ENSP00000397482:P566T;ENSP00000347852:P762T	ENSP00000284776:P662T	P	-	1	0	SORBS2	186781581	1.000000	0.71417	0.989000	0.46669	0.521000	0.34408	9.869000	0.99810	2.797000	0.96272	0.561000	0.74099	CCG		0.552	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		63	128	1	0	3.86e-21	5.21e-21	63	128				
FRG1	2483	broad.mit.edu	37	4	190876258	190876258	+	Silent	SNP	T	T	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:190876258T>C	ENST00000226798.4	+	5	606	c.384T>C	c.(382-384)cgT>cgC	p.R128R	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	128					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TTGTTGGGCGTTCAGATGCAA	0.353																																						uc003izs.2		NA																	0					0						c.(382-384)CGT>CGC		FSHD region gene 1							93.0	92.0	92.0					4																	190876258		2203	4300	6503	SO:0001819	synonymous_variant	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190876258T>C	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.384T>C	4.37:g.190876258T>C							p.R128R	NM_004477	NP_004468	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	5	575	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	128					A8K775	Silent	SNP	ENST00000226798.4	37	c.384T>C	CCDS34121.1																																																																																				0.353	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		4	217	0	0	0	0	4	217				
SLC12A7	10723	broad.mit.edu	37	5	1089145	1089145	+	Silent	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:1089145C>T	ENST00000264930.5	-	4	484	c.441G>A	c.(439-441)gtG>gtA	p.V147V		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	147					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GGACACCAGCCACCCCCACGA	0.652																																						uc003jbu.2		NA																	0				skin(2)|large_intestine(1)|ovary(1)	4						c.(439-441)GTG>GTA		solute carrier family 12 (potassium/chloride	Potassium Chloride(DB00761)						179.0	148.0	159.0					5																	1089145		2201	4300	6501	SO:0001819	synonymous_variant	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1089145C>T	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.441G>A	5.37:g.1089145C>T							p.V147V	NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		4	507	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		147			Helical; (Potential).		A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Silent	SNP	ENST00000264930.5	37	c.441G>A	CCDS34129.1																																																																																				0.652	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		36	124	0	0	0	0	36	124				
DNAH5	1767	broad.mit.edu	37	5	13716599	13716599	+	Silent	SNP	G	G	T	rs113914833		TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:13716599G>T	ENST00000265104.4	-	74	13010	c.12906C>A	c.(12904-12906)atC>atA	p.I4302I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4302					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GACAAACCTGGATATACTGAA	0.333									Kartagener syndrome																													uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(12904-12906)ATC>ATA		dynein, axonemal, heavy chain 5							80.0	77.0	78.0					5																	13716599		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13716599G>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.12906C>A	5.37:g.13716599G>T						DNAH5_uc003jfc.2_Silent_p.I470I	p.I4302I	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			74	12948	-	Lung NSC(4;0.00476)		4302					Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.12906C>A	CCDS3882.1																																																																																				0.333	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		19	46	1	0	3.88e-16	5.04e-16	19	46				
DNAH5	1767	broad.mit.edu	37	5	13841180	13841180	+	Silent	SNP	A	A	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:13841180A>G	ENST00000265104.4	-	34	5648	c.5544T>C	c.(5542-5544)aaT>aaC	p.N1848N		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1848	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAAACTTGGCATTTCTAAGGG	0.388									Kartagener syndrome																													uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(5542-5544)AAT>AAC		dynein, axonemal, heavy chain 5							132.0	129.0	130.0					5																	13841180		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13841180A>G	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.5544T>C	5.37:g.13841180A>G							p.N1848N	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			34	5586	-	Lung NSC(4;0.00476)		1848			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.5544T>C	CCDS3882.1																																																																																				0.388	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		38	150	0	0	0	0	38	150				
HCN1	348980	broad.mit.edu	37	5	45353210	45353210	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:45353210G>C	ENST00000303230.4	-	5	1426	c.1369C>G	c.(1369-1371)Ctg>Gtg	p.L457V		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	457					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)	p.L457M(1)		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						ACCTCTCTCAGAGGATCATTG	0.348																																						uc003jok.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1369-1371)CTG>GTG		hyperpolarization activated cyclic							112.0	103.0	106.0					5																	45353210		2202	4296	6498	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45353210G>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.1369C>G	5.37:g.45353210G>C	ENSP00000307342:p.Leu457Val						p.L457V	NM_021072	NP_066550	O60741	HCN1_HUMAN			5	1394	-			457			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000303230.4	37	c.1369C>G	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.742554	0.69418	.	.	ENSG00000164588	ENST00000303230	D	0.97924	-4.61	5.97	5.1	0.69264	Cyclic nucleotide-binding-like (1);	0.000000	0.51477	D	0.000093	D	0.97798	0.9277	M	0.91872	3.25	0.54753	D	0.999989	P	0.47409	0.895	P	0.45474	0.482	D	0.97626	1.0139	10	0.87932	D	0	.	11.1144	0.48252	0.1403:0.0:0.8597:0.0	.	457	O60741	HCN1_HUMAN	V	457	ENSP00000307342:L457V	ENSP00000307342:L457V	L	-	1	2	HCN1	45388967	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.787000	0.75099	1.529000	0.49120	0.655000	0.94253	CTG		0.348	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		31	90	0	0	0	0	31	90				
NDUFS4	4724	broad.mit.edu	37	5	52942221	52942221	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:52942221G>A	ENST00000296684.5	+	3	364	c.336G>A	c.(334-336)atG>atA	p.M112I		NM_002495.2	NP_002486.1	O43181	NDUS4_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)	112					brain development (GO:0007420)|cAMP-mediated signaling (GO:0019933)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrial respiratory chain complex I assembly (GO:0032981)|positive regulation of fibroblast proliferation (GO:0048146)|reactive oxygen species metabolic process (GO:0072593)|regulation of protein phosphorylation (GO:0001932)|respiratory electron transport chain (GO:0022904)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(3)	10		Lung NSC(810;8.27e-05)|Breast(144;0.0848)				ATCCTTTGATGGGTTGGGCAT	0.353																																						uc003jpe.2		NA																	0				central_nervous_system(1)	1						c.(334-336)ATG>ATA		NADH dehydrogenase (ubiquinone) Fe-S protein 4	NADH(DB00157)						131.0	127.0	128.0					5																	52942221		2203	4300	6503	SO:0001583	missense	4724				brain development|cAMP-mediated signaling|mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|positive regulation of fibroblast proliferation|reactive oxygen species metabolic process|regulation of protein phosphorylation|response to cAMP|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr5:52942221G>A	AF020351	CCDS3960.1	5q11.1	2011-07-04	2002-08-29		ENSG00000164258	ENSG00000164258		"""Mitochondrial respiratory chain complex / Complex I"""	7711	protein-coding gene	gene with protein product	"""complex I 18kDa subunit"""	602694	"""NADH dehydrogenase (ubiquinone) Fe-S protein 4 (18kD) (NADH-coenzyme Q reductase)"""			9463323, 9763677	Standard	NM_002495		Approved	AQDQ, CI-18	uc003jpe.2	O43181	OTTHUMG00000096987	ENST00000296684.5:c.336G>A	5.37:g.52942221G>A	ENSP00000296684:p.Met112Ile						p.M112I	NM_002495	NP_002486	O43181	NDUS4_HUMAN			3	364	+		Lung NSC(810;8.27e-05)|Breast(144;0.0848)	112					Q9BS69	Missense_Mutation	SNP	ENST00000296684.5	37	c.336G>A	CCDS3960.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.851702	0.71719	.	.	ENSG00000164258	ENST00000296684;ENST00000506765	D;D	0.82711	-1.64;-1.64	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.86871	0.6037	M	0.85542	2.76	0.80722	D	1	B	0.31351	0.32	B	0.33392	0.163	D	0.84944	0.0867	10	0.49607	T	0.09	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	112	O43181	NDUS4_HUMAN	I	112;108	ENSP00000296684:M112I;ENSP00000424570:M108I	ENSP00000296684:M112I	M	+	3	0	NDUFS4	52977978	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.461000	0.97646	2.882000	0.98803	0.655000	0.94253	ATG		0.353	NDUFS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214062.2	NM_002495		13	104	0	0	0	0	13	104				
IL6ST	3572	broad.mit.edu	37	5	55250717	55250717	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:55250717C>A	ENST00000381298.2	-	11	1683	c.1371G>T	c.(1369-1371)tgG>tgT	p.W457C	IL6ST_ENST00000381294.3_Intron|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000536319.1_Intron|IL6ST_ENST00000522633.2_3'UTR|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000336909.5_Missense_Mutation_p.W457C|IL6ST_ENST00000502326.3_Missense_Mutation_p.W457C	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	457	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				ATAACACACACCACTCAAGTA	0.423			O		hepatocellular ca																																	uc003jqq.2		NA		Dom	yes		5	5q11	3572	O	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			E			hepatocellular ca		0				large_intestine(1)|ovary(1)	2						c.(1369-1371)TGG>TGT		interleukin 6 signal transducer isoform 1							209.0	205.0	206.0					5																	55250717		2203	4300	6503	SO:0001583	missense	3572				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity	g.chr5:55250717C>A	M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6021	protein-coding gene	gene with protein product	"""gp130, oncostatin M receptor"""	600694	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.1371G>T	5.37:g.55250717C>A	ENSP00000370698:p.Trp457Cys					IL6ST_uc010iwb.2_Intron|IL6ST_uc010iwc.2_Intron|IL6ST_uc010iwd.2_Intron|IL6ST_uc011cqk.1_Missense_Mutation_p.W168C|IL6ST_uc003jqr.2_3'UTR	p.W457C	NM_002184	NP_002175	P40189	IL6RB_HUMAN			11	1626	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)	457			Extracellular (Potential).|Fibronectin type-III 4.		A0N0L4|Q5FC04|Q9UQ41	Missense_Mutation	SNP	ENST00000381298.2	37	c.1371G>T	CCDS3971.1	.	.	.	.	.	.	.	.	.	.	C	19.63	3.864341	0.71949	.	.	ENSG00000134352	ENST00000381298;ENST00000336909	T;T	0.54279	0.58;0.58	5.94	5.94	0.96194	Long hematopoietin receptor, Gp130 family 2, conserved site (1);Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.77818	0.4187	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79804	-0.1649	10	0.87932	D	0	.	20.3593	0.98849	0.0:1.0:0.0:0.0	.	457;457	Q17RA0;P40189	.;IL6RB_HUMAN	C	457	ENSP00000370698:W457C;ENSP00000338799:W457C	ENSP00000338799:W457C	W	-	3	0	IL6ST	55286474	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	5.071000	0.64382	2.807000	0.96579	0.591000	0.81541	TGG		0.423	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184		46	320	1	0	1.36e-18	1.81e-18	46	320				
ERBB2IP	55914	broad.mit.edu	37	5	65370963	65370963	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:65370963C>G	ENST00000284037.5	+	23	4257	c.3868C>G	c.(3868-3870)Cta>Gta	p.L1290V	ERBB2IP_ENST00000380938.2_Missense_Mutation_p.L1249V|ERBB2IP_ENST00000380935.1_Intron|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.L1245V|ERBB2IP_ENST00000508515.1_Intron|ERBB2IP_ENST00000503913.1_Intron|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.L1238V|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.L488V|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.L1297V|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.L1249V|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.L1249V	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	1290					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TAGAGAACAACTAATTGATTA	0.488																																						uc003juk.1		NA																	0				ovary(3)|lung(2)|central_nervous_system(2)	7						c.(3868-3870)CTA>GTA		ERBB2 interacting protein isoform 2							119.0	120.0	120.0					5																	65370963		2203	4300	6503	SO:0001583	missense	55914				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton	g.chr5:65370963C>G		CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.3868C>G	5.37:g.65370963C>G	ENSP00000284037:p.Leu1290Val					ERBB2IP_uc003jui.1_Missense_Mutation_p.L1249V|ERBB2IP_uc003juj.1_Intron|ERBB2IP_uc011cqx.1_Missense_Mutation_p.L1297V|ERBB2IP_uc011cqy.1_Missense_Mutation_p.L1249V|ERBB2IP_uc011cqz.1_Missense_Mutation_p.L488V|ERBB2IP_uc010iwx.1_Missense_Mutation_p.L1293V|ERBB2IP_uc003jul.1_Missense_Mutation_p.L1245V	p.L1290V	NM_018695	NP_061165	Q96RT1	LAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)	23	4176	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)	1290					A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	ENST00000284037.5	37	c.3868C>G	CCDS58953.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.791996	0.70452	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000416865;ENST00000380939;ENST00000380936;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000512354	T;T;T;T;T;T;T;T	0.53857	1.29;1.34;1.32;1.23;0.64;0.6;1.34;1.32	5.81	4.94	0.65067	.	0.000000	0.64402	D	0.000001	T	0.59376	0.2189	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D;D;D	0.76494	0.993;0.999;0.998;0.999;0.997;0.997;0.998	D;D;D;D;D;D;D	0.87578	0.967;0.998;0.994;0.996;0.978;0.991;0.996	T	0.60485	-0.7254	10	0.49607	T	0.09	.	11.3634	0.49657	0.0:0.8432:0.0:0.1568	.	488;1249;1297;1297;1245;1290;1249	B4DIP2;Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-2	.;.;.;.;.;LAP2_HUMAN;.	V	1290;1249;488;1238;1249;1249;1245;1297;127	ENSP00000284037:L1290V;ENSP00000370330:L1249V;ENSP00000397833:L488V;ENSP00000370326:L1238V;ENSP00000370323:L1249V;ENSP00000370325:L1249V;ENSP00000422766:L1245V;ENSP00000426632:L1297V	ENSP00000284037:L1290V	L	+	1	2	ERBB2IP	65406719	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.259000	0.58828	1.457000	0.47850	0.650000	0.86243	CTA		0.488	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695		60	184	0	0	0	0	60	184				
ENC1	8507	broad.mit.edu	37	5	73931933	73931933	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:73931933C>A	ENST00000302351.4	-	2	1508	c.378G>T	c.(376-378)atG>atT	p.M126I	ENC1_ENST00000510316.1_Missense_Mutation_p.M53I|ENC1_ENST00000537006.1_Missense_Mutation_p.M126I	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	126				INEENAESLLEAGDMLEFQ -> HQLEGKCRNSLLGSLVTC WSFK (in Ref. 1). {ECO:0000305}.	multicellular organismal development (GO:0007275)|negative regulation of translation (GO:0017148)|nervous system development (GO:0007399)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		GAAACTCCAGCATGTCACCAG	0.532																																						uc003kdc.3		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(376-378)ATG>ATT		ectodermal-neural cortex (with BTB-like domain)							100.0	97.0	98.0					5																	73931933		2203	4300	6503	SO:0001583	missense	8507				nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding	g.chr5:73931933C>A	AF059611	CCDS4021.1, CCDS58958.1	5q13	2013-01-30	2013-01-30		ENSG00000171617	ENSG00000171617		"""Kelch-like"", ""BTB/POZ domain containing"""	3345	protein-coding gene	gene with protein product	"""kelch-like family member 37"""	605173	"""ectodermal-neural cortex 1 (with BTB-like domain)"""	NRPB		9305847, 9566959	Standard	NM_003633		Approved	PIG10, ENC-1, TP53I10, KLHL37	uc003kdc.5	O14682	OTTHUMG00000102059	ENST00000302351.4:c.378G>T	5.37:g.73931933C>A	ENSP00000306356:p.Met126Ile					ENC1_uc011css.1_Missense_Mutation_p.M53I	p.M126I	NM_003633	NP_003624	O14682	ENC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)	2	1509	-		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)	126	INEENAESLLEAGDMLEFQ -> HQLEGKCRNSLLGSLVTC WSFK (in Ref. 1).				B4DHJ1|E9PFU0|O75464|Q9UPG9	Missense_Mutation	SNP	ENST00000302351.4	37	c.378G>T	CCDS4021.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.306403	0.81247	.	.	ENSG00000171617	ENST00000302351;ENST00000510316;ENST00000537006	T;T;T	0.70631	-0.5;-0.5;-0.5	6.04	6.04	0.98038	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.80819	0.4696	M	0.64630	1.985	0.80722	D	1	P	0.52316	0.952	P	0.55749	0.783	T	0.80839	-0.1203	10	0.72032	D	0.01	.	20.5792	0.99380	0.0:1.0:0.0:0.0	.	126	O14682	ENC1_HUMAN	I	126;53;126	ENSP00000306356:M126I;ENSP00000423804:M53I;ENSP00000446289:M126I	ENSP00000306356:M126I	M	-	3	0	ENC1	73967689	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.873000	0.98535	0.561000	0.74099	ATG		0.532	ENC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219862.2	NM_003633		25	142	1	0	1.43e-11	1.77e-11	25	142				
AP3B1	8546	broad.mit.edu	37	5	77521392	77521392	+	Missense_Mutation	SNP	C	C	T	rs149521661		TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:77521392C>T	ENST00000255194.6	-	6	752	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K	AP3B1_ENST00000519295.1_Missense_Mutation_p.E144K	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	193					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		AGAAGTTTTTCAATTACTTCA	0.254									Hermansky-Pudlak syndrome																													uc003kfj.2		NA																	0				central_nervous_system(1)	1						c.(577-579)GAA>AAA		adaptor-related protein complex 3, beta 1		C	LYS/GLU	1,4383	2.1+/-5.4	0,1,2191	54.0	54.0	54.0		577	5.6	1.0	5	dbSNP_134	54	0,8546		0,0,4273	no	missense	AP3B1	NM_003664.3	56	0,1,6464	TT,TC,CC		0.0,0.0228,0.0077	benign	193/1095	77521392	1,12929	2192	4273	6465	SO:0001583	missense	8546	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8	endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity	g.chr5:77521392C>T	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.577G>A	5.37:g.77521392C>T	ENSP00000255194:p.Glu193Lys						p.E193K	NM_003664	NP_003655	O00203	AP3B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)	6	702	-		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)	193					E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	ENST00000255194.6	37	c.577G>A	CCDS4041.1	.	.	.	.	.	.	.	.	.	.	C	35	5.451644	0.96205	2.28E-4	0.0	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760;ENST00000535667	T;T	0.62788	-0.0;-0.0	5.59	5.59	0.84812	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.66597	0.2805	L	0.35793	1.09	0.80722	D	1	P	0.45986	0.87	P	0.51055	0.657	T	0.69224	-0.5201	10	0.87932	D	0	-22.8772	19.5942	0.95527	0.0:1.0:0.0:0.0	.	193	O00203	AP3B1_HUMAN	K	193;144;193;97	ENSP00000255194:E193K;ENSP00000430597:E144K	ENSP00000255194:E193K	E	-	1	0	AP3B1	77557148	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.742000	0.85008	2.631000	0.89168	0.585000	0.79938	GAA		0.254	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2			13	41	0	0	0	0	13	41				
TTC37	9652	broad.mit.edu	37	5	94852062	94852062	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:94852062T>C	ENST00000358746.2	-	25	2927	c.2629A>G	c.(2629-2631)Att>Gtt	p.I877V	TTC37_ENST00000515176.1_5'Flank	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	877			Missing (found in a THES1 patient). {ECO:0000269|PubMed:21120949}.			cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TTTACCTCAATGTTTTCATTT	0.328																																						uc003klb.2		NA																	0				ovary(3)|pancreas(1)	4						c.(2629-2631)ATT>GTT		tetratricopeptide repeat domain 37							40.0	42.0	41.0					5																	94852062		2202	4293	6495	SO:0001583	missense	9652						binding	g.chr5:94852062T>C	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.2629A>G	5.37:g.94852062T>C	ENSP00000351596:p.Ile877Val						p.I877V	NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN			25	2899	-			877		Missing (found in a patient with THE syndrome).	TPR 15.		O15077|Q6PJI3	Missense_Mutation	SNP	ENST00000358746.2	37	c.2629A>G	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	T	13.82	2.351102	0.41599	.	.	ENSG00000198677	ENST00000358746	T	0.63417	-0.04	5.01	5.01	0.66863	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.50188	0.1601	N	0.25485	0.75	0.58432	D	0.999993	P	0.35551	0.509	B	0.38056	0.264	T	0.45789	-0.9237	10	0.17832	T	0.49	.	15.0339	0.71728	0.0:0.0:0.0:1.0	.	877	Q6PGP7	TTC37_HUMAN	V	877	ENSP00000351596:I877V	ENSP00000351596:I877V	I	-	1	0	TTC37	94877818	1.000000	0.71417	0.996000	0.52242	0.924000	0.55760	4.265000	0.58865	2.009000	0.58944	0.383000	0.25322	ATT		0.328	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639		14	80	0	0	0	0	14	80				
YTHDC2	64848	broad.mit.edu	37	5	112917312	112917312	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:112917312G>T	ENST00000161863.4	+	25	3766	c.3553G>T	c.(3553-3555)Gaa>Taa	p.E1185*		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1185					ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TATGTCTTCAGAAGAGCTTCC	0.408																																						uc003kqn.2		NA																	0				skin(2)|central_nervous_system(1)	3						c.(3553-3555)GAA>TAA		YTH domain containing 2							51.0	52.0	52.0					5																	112917312		2202	4300	6502	SO:0001587	stop_gained	64848						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:112917312G>T	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.3553G>T	5.37:g.112917312G>T	ENSP00000161863:p.Glu1185*						p.E1185*	NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)	25	3736	+		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)	1185					B2RP66	Nonsense_Mutation	SNP	ENST00000161863.4	37	c.3553G>T	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	G	45	11.735813	0.99597	.	.	ENSG00000047188	ENST00000161863;ENST00000511372	.	.	.	5.39	5.39	0.77823	.	0.109901	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	14.4976	0.67700	0.073:0.0:0.927:0.0	.	.	.	.	X	1185;1095	.	ENSP00000161863:E1185X	E	+	1	0	YTHDC2	112945211	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.763000	0.85283	2.536000	0.85505	0.644000	0.83932	GAA		0.408	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828		23	56	1	0	1.11e-09	1.35e-09	23	56				
TEX43	389320	broad.mit.edu	37	5	125971893	125971893	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:125971893G>A	ENST00000357147.3	+	3	378	c.365G>A	c.(364-366)aGc>aAc	p.S122N		NM_207408.1	NP_997291.1	Q6ZNM6	TEX43_HUMAN		122										large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						AGATACCAAAGCACTGTGATT	0.403																																						uc003kub.1		NA																	0				ovary(1)	1						c.(364-366)AGC>AAC		hypothetical protein LOC389320							91.0	93.0	92.0					5																	125971893		2203	4300	6503	SO:0001583	missense	389320							g.chr5:125971893G>A																												ENST00000357147.3:c.365G>A	5.37:g.125971893G>A	ENSP00000349669:p.Ser122Asn						p.S122N	NM_207408	NP_997291	Q6ZNM6	CE048_HUMAN			3	378	+			122						Missense_Mutation	SNP	ENST00000357147.3	37	c.365G>A	CCDS4139.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.318641	0.60524	.	.	ENSG00000196900	ENST00000357147	.	.	.	4.44	4.44	0.53790	.	0.000000	0.64402	D	0.000004	T	0.37320	0.0999	L	0.29908	0.895	0.28251	N	0.92527	D	0.54964	0.969	P	0.57468	0.821	T	0.19844	-1.0293	9	0.66056	D	0.02	-25.8718	6.5055	0.22192	0.097:0.1852:0.7178:0.0	.	122	Q6ZNM6	CE048_HUMAN	N	122	.	ENSP00000349669:S122N	S	+	2	0	C5orf48	125999792	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	3.332000	0.52083	2.457000	0.83068	0.462000	0.41574	AGC		0.403	C5orf48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250923.1			25	143	0	0	0	0	25	143				
PCDHA7	56141	broad.mit.edu	37	5	140214169	140214169	+	Silent	SNP	G	G	T	rs139714335		TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:140214169G>T	ENST00000525929.1	+	1	201	c.201G>T	c.(199-201)gtG>gtT	p.V67V	PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.V67V|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	67	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGGGCGGTGTGCAAATTCC	0.632																																					NSCLC(160;258 2013 5070 22440 28951)	uc003lhq.2		NA																	0				ovary(2)|skin(2)	4						c.(199-201)GTG>GTT		protocadherin alpha 7 isoform 1 precursor							90.0	108.0	102.0					5																	140214169		2203	4300	6503	SO:0001819	synonymous_variant	56141				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140214169G>T	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.201G>T	5.37:g.140214169G>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Silent_p.V67V	p.V67V	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	201	+			67			Cadherin 1.|Extracellular (Potential).		O75282	Silent	SNP	ENST00000525929.1	37	c.201G>T	CCDS54918.1																																																																																				0.632	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		50	278	1	0	3.19e-20	4.28e-20	50	278				
PCDHA12	56137	broad.mit.edu	37	5	140256976	140256976	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:140256976C>T	ENST00000398631.2	+	1	1919	c.1919C>T	c.(1918-1920)gCg>gTg	p.A640V	PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	640	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)			CTGGATGAGGCGGACGCTCCG	0.687																																					Pancreas(113;759 1672 13322 24104 50104)	uc003lic.2		NA																	0					0						c.(1918-1920)GCG>GTG		protocadherin alpha 12 isoform 1 precursor							169.0	158.0	162.0					5																	140256976		2203	4299	6502	SO:0001583	missense	56137				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140256976C>T	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1919C>T	5.37:g.140256976C>T	ENSP00000381628:p.Ala640Val					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.A640V	p.A640V	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2046	+			640			Cadherin 6.|Extracellular (Potential).		O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	c.1919C>T	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	C	2.535	-0.307702	0.05458	.	.	ENSG00000251664	ENST00000398631	T	0.52295	0.67	4.71	1.78	0.24846	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.34019	0.0883	L	0.41027	1.25	0.09310	N	1	B;B	0.28208	0.203;0.069	B;B	0.21708	0.03;0.036	T	0.16217	-1.0410	9	0.30078	T	0.28	.	7.3396	0.26630	0.2985:0.6196:0.0:0.0818	.	640;640	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	V	640	ENSP00000381628:A640V	ENSP00000381628:A640V	A	+	2	0	PCDHA12	140237160	0.000000	0.05858	0.094000	0.20943	0.003000	0.03518	-0.858000	0.04281	0.037000	0.15575	-0.314000	0.08810	GCG		0.687	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		19	54	0	0	0	0	19	54				
PCDHGA2	56113	broad.mit.edu	37	5	140720647	140720647	+	Silent	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:140720647C>T	ENST00000394576.2	+	1	2109	c.2109C>T	c.(2107-2109)gtC>gtT	p.V703V	PCDHGA3_ENST00000253812.6_5'Flank|PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	703					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCCTGCGTCTTCCTGGCCT	0.652																																						uc003ljk.1		NA																	0				skin(2)|ovary(1)	3						c.(2107-2109)GTC>GTT		protocadherin gamma subfamily A, 2 isoform 1							92.0	99.0	96.0					5																	140720647		2203	4300	6503	SO:0001819	synonymous_variant	56113				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140720647C>T	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.2109C>T	5.37:g.140720647C>T						PCDHGA1_uc003lji.1_Intron|PCDHGA3_uc003ljm.1_5'Flank|PCDHGA3_uc010jfx.1_5'Flank|PCDHGA2_uc011dao.1_Silent_p.V703V|PCDHGA3_uc011dap.1_5'Flank	p.V703V	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2294	+			703			Helical; (Potential).		Q52LL6|Q9Y5D5	Silent	SNP	ENST00000394576.2	37	c.2109C>T	CCDS47289.1																																																																																				0.652	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		60	165	0	0	0	0	60	165				
PCDHGB3	56102	broad.mit.edu	37	5	140777700	140777700	+	Intron	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:140777700G>A	ENST00000576222.1	+	1	2546				PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGGATGGGGAGCGGCGCCG	0.577											OREG0016860	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003lkf.1		NA																	0					0						c.(4-6)GGG>GGA		protocadherin gamma subfamily B, 5 isoform 1							7.0	11.0	10.0					5																	140777700		1770	4004	5774	SO:0001627	intron_variant	56101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140777700G>A	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2415+25324G>A	5.37:g.140777700G>A			OREG0016860	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1659	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Silent_p.G2G	p.G2G	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	6	+			2					A7E229|Q9Y5C7	Silent	SNP	ENST00000576222.1	37	c.6G>A	CCDS58980.1																																																																																				0.577	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		4	13	0	0	0	0	4	13				
PCDH1	5097	broad.mit.edu	37	5	141233630	141233630	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:141233630C>T	ENST00000287008.3	-	5	3838	c.3691G>A	c.(3691-3693)Gcc>Acc	p.A1231T	PCDH1_ENST00000503492.1_3'UTR	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	0					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TCGCGCTTGGCCGTCTGGGCA	0.672																																					Ovarian(132;1609 1739 4190 14731 45037)	uc003llp.2		NA																	0				ovary(5)	5						c.(3691-3693)GCC>ACC		protocadherin 1 isoform 2 precursor							22.0	28.0	26.0					5																	141233630		2203	4300	6503	SO:0001583	missense	5097				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	g.chr5:141233630C>T	AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000287008.3:c.3691G>A	5.37:g.141233630C>T	ENSP00000287008:p.Ala1231Thr						p.A1231T	NM_032420	NP_115796	Q08174	PCDH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)	5	3808	-		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	Error:Variant_position_missing_in_Q08174_after_alignment					Q8IUP2	Missense_Mutation	SNP	ENST00000287008.3	37	c.3691G>A	CCDS4267.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.397138	0.25205	.	.	ENSG00000156453	ENST00000287008	T	0.54675	0.56	4.97	4.1	0.47936	.	0.217295	0.22794	U	0.055564	T	0.30541	0.0768	N	0.08118	0	0.80722	D	1	B	0.25312	0.123	B	0.13407	0.009	T	0.08848	-1.0702	10	0.37606	T	0.19	.	11.3636	0.49657	0.0:0.9099:0.0:0.0901	.	1231	Q08174-2	.	T	1231	ENSP00000287008:A1231T	ENSP00000287008:A1231T	A	-	1	0	PCDH1	141213814	0.940000	0.31905	0.997000	0.53966	0.982000	0.71751	0.937000	0.28951	1.210000	0.43336	0.462000	0.41574	GCC		0.672	PCDH1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320587.2	NM_032420		3	26	0	0	0	0	3	26				
ZNF184	7738	broad.mit.edu	37	6	27424701	27424701	+	Splice_Site	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:27424701C>T	ENST00000211936.6	-	5	487		c.e5-1		ZNF184_ENST00000377419.1_Splice_Site	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						ACTTGGAGTCCTGTTCATTAG	0.408																																						uc003njj.2		NA																	0				ovary(1)	1						c.e4-1		zinc finger protein 184							91.0	85.0	87.0					6																	27424701		2203	4300	6503	SO:0001630	splice_region_variant	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27424701C>T	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.203-1G>A	6.37:g.27424701C>T						ZNF184_uc010jqv.2_Splice_Site_p.G68_splice|ZNF184_uc003nji.2_Splice_Site_p.G68_splice	p.G68_splice	NM_007149	NP_009080	Q99676	ZN184_HUMAN			4	1014	-								B2R715|O60792|Q8TBA9	Splice_Site	SNP	ENST00000211936.6	37	c.203_splice	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.248306	0.59103	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	.	.	.	5.1	4.23	0.50019	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3599	0.49638	0.0:0.9105:0.0:0.0895	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF184	27532680	0.027000	0.19231	1.000000	0.80357	0.907000	0.53573	1.049000	0.30392	2.814000	0.96858	0.655000	0.94253	.		0.408	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149	Intron	56	124	0	0	0	0	56	124				
GPX6	257202	broad.mit.edu	37	6	28473519	28473519	+	Silent	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:28473519C>A	ENST00000361902.1	-	4	469	c.420G>T	c.(418-420)gtG>gtT	p.V140V	GPX6_ENST00000483058.1_5'Flank|GPX6_ENST00000474923.1_Intron	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	140			V -> M (in dbSNP:rs36055795). {ECO:0000269|Ref.2}.		response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	TTTCTCCATTCACATCCCCTT	0.453																																						uc011dlj.1		NA																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(418-420)GTG>GTT		glutathione peroxidase 6 precursor	Glutathione(DB00143)						94.0	99.0	97.0					6																	28473519		2128	4268	6396	SO:0001819	synonymous_variant	257202				response to oxidative stress	extracellular region	glutathione peroxidase activity	g.chr6:28473519C>A		CCDS43432.1	6p22.1	2012-03-01			ENSG00000198704	ENSG00000198704	1.11.1.9		4558	protein-coding gene	gene with protein product		607913	"""glutathione peroxidase pseudogene 3"""	GPXP3			Standard	NM_182701		Approved		uc021yrx.1	P59796	OTTHUMG00000044828	ENST00000361902.1:c.420G>T	6.37:g.28473519C>A						GPX6_uc010jrg.1_Intron	p.V140V	NM_182701	NP_874360	P59796	GPX6_HUMAN			5	470	-			140					Q4PJ17	Silent	SNP	ENST00000361902.1	37	c.420G>T	CCDS43432.1																																																																																				0.453	GPX6-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000104340.1			12	80	1	0	7.04e-09	8.43e-09	12	80				
CCHCR1	54535	broad.mit.edu	37	6	31110480	31110480	+	Silent	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:31110480G>A	ENST00000376266.5	-	18	2360	c.2238C>T	c.(2236-2238)gtC>gtT	p.V746V	CCHCR1_ENST00000396263.2_Silent_p.V693V|CCHCR1_ENST00000451521.2_Silent_p.V799V|CCHCR1_ENST00000396268.3_Silent_p.V835V	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	746					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						CATCGAGCAGGACAGAGAGGG	0.537																																						uc003nsr.3		NA																	0				skin(1)	1						c.(2236-2238)GTC>GTT		coiled-coil alpha-helical rod protein 1 isoform							83.0	73.0	76.0					6																	31110480		2203	4300	6503	SO:0001819	synonymous_variant	54535				cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding	g.chr6:31110480G>A	AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"""chromosome 6 open reading frame 18"""	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.2238C>T	6.37:g.31110480G>A						CCHCR1_uc011dne.1_Silent_p.V732V|CCHCR1_uc003nsq.3_Silent_p.V799V|CCHCR1_uc003nsp.3_Silent_p.V835V	p.V746V	NM_019052	NP_061925	Q8TD31	CCHCR_HUMAN			18	2361	-			746					A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Silent	SNP	ENST00000376266.5	37	c.2238C>T	CCDS4695.1																																																																																				0.537	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5	NM_019052		42	109	0	0	0	0	42	109				
TAP2	6891	broad.mit.edu	37	6	32797314	32797314	+	Splice_Site	SNP	C	C	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:32797314C>G	ENST00000452392.2	-	11	1969		c.e11-1		TAP2_ENST00000374899.4_Splice_Site|TAP2_ENST00000485701.1_5'Flank|TAP2_ENST00000374897.2_Splice_Site			Q9UDX4	S14L3_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)							extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)									Vitamin E(DB00163)	TCCCCTACATCTGAGGAAATC	0.557																																						uc003occ.2		NA																	0					0						c.e10-1		transporter 2, ATP-binding cassette, sub-family							60.0	61.0	61.0					6																	32797314		2203	4300	6503	SO:0001630	splice_region_variant	6891				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32797314C>G	M74447	CCDS4755.1	6p21.3	2014-09-17			ENSG00000204267	ENSG00000204267		"""ATP binding cassette transporters / subfamily B"""	44	protein-coding gene	gene with protein product		170261		ABCB3		1529427, 1946428, 16395595	Standard	NM_001290043		Approved	PSF2, RING11, D6S217E	uc003ocd.3	Q03519	OTTHUMG00000031068	ENST00000452392.2:c.1796-1G>C	6.37:g.32797314C>G						TAP2_uc011dqf.1_Splice_Site_p.D599_splice|TAP2_uc003ocb.1_Splice_Site_p.D599_splice|TAP2_uc003ocd.2_Splice_Site_p.D599_splice	p.D599_splice	NM_018833	NP_061313	Q03519	TAP2_HUMAN			10	1827	-								E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Splice_Site	SNP	ENST00000452392.2	37	c.1796_splice		.	.	.	.	.	.	.	.	.	.	C	26.5	4.740323	0.89573	.	.	ENSG00000204267;ENSG00000204267;ENSG00000204267;ENSG00000250264	ENST00000556934;ENST00000374899;ENST00000374897;ENST00000452392	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3556	0.83234	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	XXbac-BPG246D15.9;TAP2	32905292	1.000000	0.71417	0.944000	0.38274	0.697000	0.40408	7.416000	0.80143	2.445000	0.82738	0.596000	0.82720	.		0.557	TAP2-001	NOVEL	mRNA_end_NF|cds_end_NF|basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000361828.1	NM_000544	Intron	11	55	0	0	0	0	11	55				
TRERF1	55809	broad.mit.edu	37	6	42231259	42231259	+	Silent	SNP	C	C	A	rs376132204		TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:42231259C>A	ENST00000372922.4	-	8	2245	c.1683G>T	c.(1681-1683)ccG>ccT	p.P561P	TRERF1_ENST00000372917.4_Intron|TRERF1_ENST00000340840.2_Intron|TRERF1_ENST00000354325.2_Intron|TRERF1_ENST00000541110.1_Silent_p.P561P	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	561	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.P561P(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			gaggcggaggcggcagtggtg	0.637																																						uc003osd.2		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(3)|pancreas(1)|skin(1)	5						c.(1681-1683)CCG>CCT		transcriptional regulating factor 1							40.0	38.0	39.0					6																	42231259		2203	4299	6502	SO:0001819	synonymous_variant	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42231259C>A	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.1683G>T	6.37:g.42231259C>A						TRERF1_uc011duq.1_Intron|TRERF1_uc003osb.2_Intron|TRERF1_uc003osc.2_Intron|TRERF1_uc003ose.2_Silent_p.P561P	p.P561P	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		8	2246	-	Colorectal(47;0.196)		561			Pro-rich.|Interacts with CREBBP.		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Silent	SNP	ENST00000372922.4	37	c.1683G>T	CCDS4867.1																																																																																				0.637	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		12	36	1	0	4.27e-12	5.33e-12	12	36				
ZNF318	24149	broad.mit.edu	37	6	43306786	43306786	+	Silent	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:43306786C>A	ENST00000361428.2	-	10	5027	c.4950G>T	c.(4948-4950)ctG>ctT	p.L1650L	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1650					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTAGGGCCACCAGAGTTTTTG	0.493																																						uc003oux.2		NA																	0				ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7						c.(4948-4950)CTG>CTT		zinc finger protein 318							114.0	116.0	115.0					6																	43306786		2203	4300	6503	SO:0001819	synonymous_variant	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43306786C>A	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.4950G>T	6.37:g.43306786C>A						ZNF318_uc003ouw.2_Intron	p.L1650L	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		10	5028	-			1650					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Silent	SNP	ENST00000361428.2	37	c.4950G>T	CCDS4895.2																																																																																				0.493	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		80	208	1	0	1.43e-34	1.96e-34	80	208				
CDC5L	988	broad.mit.edu	37	6	44413419	44413419	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:44413419G>T	ENST00000371477.3	+	15	2418	c.2119G>T	c.(2119-2121)Gcc>Tcc	p.A707S		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	707	Interaction with PLRG1.				cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GACGACAGAAGCCAAGAGGGC	0.443																																						uc003oxl.2		NA																	0				lung(3)|ovary(1)|kidney(1)|skin(1)	6						c.(2119-2121)GCC>TCC		CDC5-like							51.0	51.0	51.0					6																	44413419		2203	4300	6503	SO:0001583	missense	988				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding	g.chr6:44413419G>T	D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"""CDC5 (cell division cycle 5, S. pombe, homolog)-like"", ""CDC5 cell division cycle 5-like (S. pombe)"""			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.2119G>T	6.37:g.44413419G>T	ENSP00000360532:p.Ala707Ser						p.A707S	NM_001253	NP_001244	Q99459	CDC5L_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		15	2378	+	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		707			Interaction with PLRG1.		Q76N46|Q99974	Missense_Mutation	SNP	ENST00000371477.3	37	c.2119G>T	CCDS4912.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460118	0.84317	.	.	ENSG00000096401	ENST00000371477	T	0.52754	0.65	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.57946	0.2088	M	0.91717	3.235	0.80722	D	1	B	0.32409	0.37	B	0.40534	0.332	T	0.62877	-0.6761	10	0.46703	T	0.11	-6.6562	19.7763	0.96395	0.0:0.0:1.0:0.0	.	707	Q99459	CDC5L_HUMAN	S	707	ENSP00000360532:A707S	ENSP00000360532:A707S	A	+	1	0	CDC5L	44521397	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.698000	0.98700	2.684000	0.91462	0.650000	0.86243	GCC		0.443	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040743.1			6	53	1	0	3.6e-05	4.07e-05	6	53				
RCAN2	10231	broad.mit.edu	37	6	46190997	46190997	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:46190997T>A	ENST00000330430.6	-	4	663	c.475A>T	c.(475-477)Agt>Tgt	p.S159C	RCAN2_ENST00000306764.7_Missense_Mutation_p.S205C|RCAN2_ENST00000405162.1_Missense_Mutation_p.S205C|RCAN2_ENST00000371374.1_Missense_Mutation_p.S205C	NM_005822.3	NP_005813.2	Q14206	RCAN2_HUMAN	regulator of calcineurin 2	159					calcineurin-NFAT signaling cascade (GO:0033173)|locomotion involved in locomotory behavior (GO:0031987)|response to oxidative stress (GO:0006979)|short-term memory (GO:0007614)		nucleotide binding (GO:0000166)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						ACGACGACACTTGGGGTGGAC	0.512																																						uc003oyb.1		NA																	0					0						c.(475-477)AGT>TGT		Down syndrome critical region gene 1-like 1							171.0	179.0	176.0					6																	46190997		1959	4146	6105	SO:0001583	missense	10231				calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding	g.chr6:46190997T>A	D83407	CCDS43469.1, CCDS59023.1	6p12.3	2008-10-31	2007-06-26	2007-06-26	ENSG00000172348	ENSG00000172348			3041	protein-coding gene	gene with protein product		604876	"""Down syndrome critical region gene 1-like 1"""	DSCR1L1		8662924	Standard	NM_001251973		Approved	ZAKI-4	uc003oyc.2	Q14206	OTTHUMG00000014782	ENST00000330430.6:c.475A>T	6.37:g.46190997T>A	ENSP00000329454:p.Ser159Cys					RCAN2_uc003oyc.1_Missense_Mutation_p.S205C|RCAN2_uc003oyd.1_Missense_Mutation_p.S205C	p.S159C	NM_005822	NP_005813	Q14206	RCAN2_HUMAN			4	790	-			159					A6ND07|B3KR46|Q5VWF7|Q5VWF8|Q8N116	Missense_Mutation	SNP	ENST00000330430.6	37	c.475A>T	CCDS43469.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.946525	0.73672	.	.	ENSG00000172348	ENST00000330430;ENST00000371374;ENST00000306764;ENST00000405162	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.76456	0.3990	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.81284	-0.1002	9	0.87932	D	0	2.1645	14.7787	0.69749	0.0:0.0:0.0:1.0	.	205;159	Q14206-2;Q14206	.;RCAN2_HUMAN	C	159;205;205;205	.	ENSP00000305223:S205C	S	-	1	0	RCAN2	46298956	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.698000	0.84413	2.085000	0.62840	0.533000	0.62120	AGT		0.512	RCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040782.1			38	216	0	0	0	0	38	216				
ZNF451	26036	broad.mit.edu	37	6	57015556	57015556	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:57015556G>T	ENST00000370706.4	+	11	2892	c.2648G>T	c.(2647-2649)cGa>cTa	p.R883L	ZNF451_ENST00000491832.2_Missense_Mutation_p.R883L|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000586466.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|ZNF451_ENST00000357489.3_Intron|RP11-203B9.4_ENST00000592038.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	883					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GATTACCTGCGAACCATGACT	0.358																																						uc003pdm.1		NA																	0				ovary(1)|pancreas(1)	2						c.(2647-2649)CGA>CTA		zinc finger protein 451 isoform 1							117.0	108.0	111.0					6																	57015556		1824	4073	5897	SO:0001583	missense	26036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:57015556G>T	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.2648G>T	6.37:g.57015556G>T	ENSP00000359740:p.Arg883Leu					ZNF451_uc003pdl.2_Missense_Mutation_p.R883L|ZNF451_uc003pdn.1_Intron|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.R883L	p.R883L	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		11	2872	+	Lung NSC(77;0.145)		883					Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Missense_Mutation	SNP	ENST00000370706.4	37	c.2648G>T	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.935365	0.92458	.	.	ENSG00000112200	ENST00000370706;ENST00000491832	T;T	0.06933	3.24;3.24	5.77	5.77	0.91146	.	0.085362	0.48767	D	0.000163	T	0.13756	0.0333	M	0.73598	2.24	0.80722	D	1	P;P;P	0.50066	0.931;0.931;0.931	P;P;P	0.47603	0.551;0.551;0.551	T	0.00792	-1.1564	10	0.66056	D	0.02	-10.8549	20.3472	0.98799	0.0:0.0:1.0:0.0	.	883;883;883	Q9Y4E5;E9PH99;Q4KMR5	ZN451_HUMAN;.;.	L	883	ENSP00000359740:R883L;ENSP00000421645:R883L	ENSP00000359740:R883L	R	+	2	0	ZNF451	57123515	1.000000	0.71417	0.977000	0.42913	0.971000	0.66376	4.789000	0.62446	2.890000	0.99128	0.650000	0.86243	CGA		0.358	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555		58	174	1	0	2.4e-35	3.3e-35	58	174				
HTR1B	3351	broad.mit.edu	37	6	78172872	78172872	+	Silent	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:78172872C>A	ENST00000369947.2	-	1	618	c.249G>T	c.(247-249)ccG>ccT	p.P83P		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	83					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)	GGTAGTTAGCCGGGGTGTGCA	0.582																																						uc003pil.1		NA																	0					0						c.(247-249)CCG>CCT		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)						177.0	162.0	167.0					6																	78172872		2203	4300	6503	SO:0001819	synonymous_variant	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.chr6:78172872C>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.249G>T	6.37:g.78172872C>A							p.P83P	NM_000863	NP_000854	P28222	5HT1B_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.205)	1	249	-		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)	83			Cytoplasmic (By similarity).		Q4VAY7	Silent	SNP	ENST00000369947.2	37	c.249G>T	CCDS4986.1																																																																																				0.582	HTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041292.1	NM_000863		48	198	1	0	1.24e-20	1.66e-20	48	198				
C6orf165	154313	broad.mit.edu	37	6	88140765	88140765	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:88140765G>A	ENST00000507897.1	+	10	1257	c.1174G>A	c.(1174-1176)Gtg>Atg	p.V392M	C6ORF165_ENST00000369562.4_Missense_Mutation_p.V392M			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	392										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		TAGAGTAAATGTGGCAGATTT	0.328																																						uc003plv.2		NA																	0				central_nervous_system(1)	1						c.(1174-1176)GTG>ATG		hypothetical protein LOC154313 isoform 1							64.0	62.0	63.0					6																	88140765		2203	4300	6503	SO:0001583	missense	154313							g.chr6:88140765G>A	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.1174G>A	6.37:g.88140765G>A	ENSP00000426769:p.Val392Met					C6orf165_uc003plw.2_Missense_Mutation_p.V204M|C6orf165_uc010kbv.1_RNA|C6orf165_uc003plu.1_Missense_Mutation_p.V392M	p.V392M	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0419)	10	1266	+		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	392					A8K969|E1P507|Q8N9U4	Missense_Mutation	SNP	ENST00000507897.1	37	c.1174G>A	CCDS34498.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.433707	0.43224	.	.	ENSG00000213204	ENST00000369562	T	0.32023	1.47	5.51	-11.0	0.00169	.	3.115540	0.00751	N	0.001068	T	0.13884	0.0336	L	0.47716	1.5	0.09310	N	1	P	0.44690	0.841	P	0.47430	0.547	T	0.35871	-0.9771	10	0.35671	T	0.21	.	9.9759	0.41783	0.0704:0.3344:0.4995:0.0957	.	392	Q8IYR0	CF165_HUMAN	M	392	ENSP00000358575:V392M	ENSP00000358575:V392M	V	+	1	0	C6orf165	88197484	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.109000	0.03309	-1.441000	0.01958	-0.282000	0.10007	GTG		0.328	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823		16	49	0	0	0	0	16	49				
UBE2J1	51465	broad.mit.edu	37	6	90052081	90052081	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:90052081C>G	ENST00000435041.2	-	3	477	c.199G>C	c.(199-201)Gag>Cag	p.E67Q		NM_016021.2	NP_057105.2	Q9Y385	UB2J1_HUMAN	ubiquitin-conjugating enzyme E2, J1	67					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(11)|stomach(1)	18		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0139)		ATGGGATACTCTGGTGGCAGT	0.448																																						uc010kcb.2		NA																	0					0						c.(199-201)GAG>CAG		ubiquitin-conjugating enzyme E2, J1							90.0	87.0	88.0					6																	90052081		2203	4300	6503	SO:0001583	missense	51465					endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity	g.chr6:90052081C>G	AJ245898	CCDS5021.1	6q15	2014-01-28	2012-06-08		ENSG00000198833	ENSG00000198833		"""Ubiquitin-conjugating enzymes E2"""	17598	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2, J1 (UBC6 homolog, yeast)"""			10708578	Standard	NM_016021		Approved	HSPC153, CGI-76, NCUBE1, UBC6	uc003pnc.3	Q9Y385	OTTHUMG00000016337	ENST00000435041.2:c.199G>C	6.37:g.90052081C>G	ENSP00000451261:p.Glu67Gln					UBE2J1_uc003pnc.2_Missense_Mutation_p.E67Q	p.E67Q	NM_016021	NP_057105	Q9Y385	UB2J1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0139)	4	372	-		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)	67			Cytoplasmic (Potential).		A8K3F9|Q53F25|Q5W0N4|Q9BZ32|Q9NQL3|Q9NY66|Q9P011|Q9P0S0|Q9UF10	Missense_Mutation	SNP	ENST00000435041.2	37	c.199G>C	CCDS5021.1	.	.	.	.	.	.	.	.	.	.	C	32	5.121848	0.94429	.	.	ENSG00000198833	ENST00000435041;ENST00000536477	T	0.46063	0.88	5.07	5.07	0.68467	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.090545	0.85682	D	0.000000	T	0.52403	0.1732	M	0.65320	2	0.80722	D	1	P	0.51240	0.943	P	0.59221	0.854	T	0.54357	-0.8306	10	0.59425	D	0.04	-6.0666	18.8131	0.92065	0.0:1.0:0.0:0.0	.	67	Q9Y385	UB2J1_HUMAN	Q	67;52	ENSP00000451261:E67Q	ENSP00000354684:E67Q	E	-	1	0	UBE2J1	90108800	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.265000	0.78442	2.506000	0.84524	0.655000	0.94253	GAG		0.448	UBE2J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043742.2	NM_016021		16	76	0	0	0	0	16	76				
EPB41L2	2037	broad.mit.edu	37	6	131247798	131247798	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:131247798G>C	ENST00000337057.3	-	4	938	c.757C>G	c.(757-759)Ctc>Gtc	p.L253V	EPB41L2_ENST00000392427.3_Missense_Mutation_p.L253V|EPB41L2_ENST00000445890.2_Missense_Mutation_p.L253V|EPB41L2_ENST00000368128.2_Missense_Mutation_p.L253V|EPB41L2_ENST00000527411.1_Missense_Mutation_p.L253V|EPB41L2_ENST00000530148.1_5'UTR|EPB41L2_ENST00000525193.1_Missense_Mutation_p.L253V|EPB41L2_ENST00000529208.1_Missense_Mutation_p.L253V|EPB41L2_ENST00000525271.1_Missense_Mutation_p.L253V|EPB41L2_ENST00000528282.1_Missense_Mutation_p.L253V|EPB41L2_ENST00000530481.1_Missense_Mutation_p.L253V|EPB41L2_ENST00000527659.1_Missense_Mutation_p.L253V	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	253	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TTCTCCAAGAGATTGAGGTGT	0.323																																						uc003qch.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(757-759)CTC>GTC		erythrocyte membrane protein band 4.1-like 2							120.0	119.0	119.0					6																	131247798		2203	4300	6503	SO:0001583	missense	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131247798G>C	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.757C>G	6.37:g.131247798G>C	ENSP00000338481:p.Leu253Val					EPB41L2_uc003qcg.1_Missense_Mutation_p.L253V|EPB41L2_uc011eby.1_Missense_Mutation_p.L253V|EPB41L2_uc003qci.2_Missense_Mutation_p.L253V|EPB41L2_uc010kfk.2_Missense_Mutation_p.L253V|EPB41L2_uc010kfl.1_Missense_Mutation_p.L253V	p.L253V	NM_001431	NP_001422	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	4	939	-	Breast(56;0.0639)		253			FERM.		B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	SNP	ENST00000337057.3	37	c.757C>G	CCDS5141.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.607349	0.28623	.	.	ENSG00000079819	ENST00000528282;ENST00000530481;ENST00000445890;ENST00000337057;ENST00000392427;ENST00000425439;ENST00000368128;ENST00000527411;ENST00000525271;ENST00000525193;ENST00000527659;ENST00000529208	D;D;D;D;D;D;D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57;-1.57;-1.57;-1.57;-1.57;-1.57;-1.57	5.17	2.89	0.33648	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.191747	0.32548	N	0.005945	D	0.87877	0.6288	M	0.85630	2.765	0.45718	D	0.998624	P;P;P;D;P	0.76494	0.574;0.574;0.574;0.999;0.574	P;B;B;D;B	0.91635	0.49;0.413;0.413;0.999;0.413	D	0.88410	0.3021	10	0.87932	D	0	.	8.7029	0.34336	0.3433:0.0:0.6567:0.0	.	253;253;253;253;253	E9PHY5;B4DHI8;E9PPD9;O43491;Q68DV2	.;.;.;E41L2_HUMAN;.	V	253	ENSP00000434308:L253V;ENSP00000434576:L253V;ENSP00000402041:L253V;ENSP00000338481:L253V;ENSP00000376222:L253V;ENSP00000357110:L253V;ENSP00000436348:L253V;ENSP00000432803:L253V;ENSP00000431988:L253V;ENSP00000431647:L253V;ENSP00000436641:L253V	ENSP00000338481:L253V	L	-	1	0	EPB41L2	131289491	1.000000	0.71417	0.999000	0.59377	0.040000	0.13550	4.858000	0.62947	1.092000	0.41356	-0.367000	0.07326	CTC		0.323	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			74	128	0	0	0	0	74	128				
SHPRH	257218	broad.mit.edu	37	6	146267451	146267451	+	Silent	SNP	C	C	T	rs140562619	byFrequency	TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:146267451C>T	ENST00000367505.2	-	7	1503	c.1239G>A	c.(1237-1239)ccG>ccA	p.P413P	SHPRH_ENST00000438092.2_Silent_p.P413P|SHPRH_ENST00000275233.7_Silent_p.P413P|SHPRH_ENST00000367503.3_Silent_p.P413P			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	413					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		AATAATGTGACGGAATAAAAT	0.323													C|||	11	0.00219649	0.0	0.0	5008	,	,		16455	0.0089		0.002	False		,,,				2504	0.0					uc003qlf.2		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(1237-1239)CCG>CCA		SNF2 histone linker PHD RING helicase isoform a		C	,	0,3644		0,0,1822	136.0	119.0	124.0		1239,1239	0.6	1.0	6	dbSNP_134	124	4,8144		0,4,4070	no	coding-synonymous,coding-synonymous	SHPRH	NM_001042683.2,NM_173082.3	,	0,4,5892	TT,TC,CC		0.0491,0.0,0.0339	,	413/1684,413/1660	146267451	4,11788	1822	4074	5896	SO:0001819	synonymous_variant	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146267451C>T	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.1239G>A	6.37:g.146267451C>T						SHPRH_uc003qld.2_Silent_p.P413P|SHPRH_uc003qle.2_Silent_p.P413P|SHPRH_uc003qlg.1_5'UTR|SHPRH_uc003qlj.1_Silent_p.P302P	p.P413P	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	7	1638	-		Ovarian(120;0.0365)	413					Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Silent	SNP	ENST00000367505.2	37	c.1239G>A	CCDS43513.2																																																																																				0.323	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		17	49	0	0	0	0	17	49				
SYNE1	23345	broad.mit.edu	37	6	152555059	152555059	+	Missense_Mutation	SNP	A	A	G	rs34669584		TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:152555059A>G	ENST00000367255.5	-	112	21170	c.20569T>C	c.(20569-20571)Tca>Cca	p.S6857P	SYNE1_ENST00000356820.4_Missense_Mutation_p.S1381P|SYNE1_ENST00000423061.1_Missense_Mutation_p.S6786P|SYNE1_ENST00000341594.5_Missense_Mutation_p.S6469P|SYNE1_ENST00000265368.4_Missense_Mutation_p.S6857P|SYNE1_ENST00000448038.1_Missense_Mutation_p.S6786P	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6857					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGAACAGATGATTTCAGGGAA	0.438										HNSCC(10;0.0054)																												uc010kiw.2		NA																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(20569-20571)TCA>CCA		spectrin repeat containing, nuclear envelope 1							73.0	69.0	71.0					6																	152555059		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.chr6:152555059A>G	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.20569T>C	6.37:g.152555059A>G	ENSP00000356224:p.Ser6857Pro	HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Missense_Mutation_p.S1381P|SYNE1_uc003qos.3_Missense_Mutation_p.S1381P|SYNE1_uc003qot.3_Missense_Mutation_p.S6786P|SYNE1_uc003qou.3_Missense_Mutation_p.S6857P	p.S6857P	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	112	21171	-		Ovarian(120;0.0955)	6857			Spectrin 21.|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.20569T>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	A	20.2	3.948973	0.73787	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.71	5.84	5.84	0.93424	.	0.000000	0.52532	D	0.000077	T	0.61553	0.2356	M	0.71581	2.175	0.40832	D	0.983599	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74023	0.959;0.959;0.982	T	0.66524	-0.5902	10	0.66056	D	0.02	.	16.2159	0.82217	1.0:0.0:0.0:0.0	.	6857;6857;6786	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	P	6857;6786;6857;6786;6469;1381	ENSP00000356224:S6857P;ENSP00000396024:S6786P;ENSP00000265368:S6857P;ENSP00000390975:S6786P;ENSP00000341887:S6469P;ENSP00000349276:S1381P	ENSP00000265368:S6857P	S	-	1	0	SYNE1	152596752	1.000000	0.71417	0.946000	0.38457	0.995000	0.86356	3.470000	0.53100	2.243000	0.73865	0.533000	0.62120	TCA		0.438	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		4	86	0	0	0	0	4	86				
NOX3	50508	broad.mit.edu	37	6	155728305	155728305	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:155728305G>T	ENST00000159060.2	-	12	1641	c.1539C>A	c.(1537-1539)aaC>aaA	p.N513K		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	513					detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CATTGTTCCAGTTGGGCCTCC	0.478																																						uc003qqm.2		NA																	0				ovary(1)	1						c.(1537-1539)AAC>AAA		NADPH oxidase 3							227.0	183.0	198.0					6																	155728305		2203	4300	6503	SO:0001583	missense	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155728305G>T	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.1539C>A	6.37:g.155728305G>T	ENSP00000159060:p.Asn513Lys						p.N513K	NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	12	1642	-		Breast(66;0.0183)	513			Cytoplasmic (Potential).		Q9HBJ9	Missense_Mutation	SNP	ENST00000159060.2	37	c.1539C>A	CCDS5250.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.399981	0.42613	.	.	ENSG00000074771	ENST00000159060	D	0.96856	-4.15	5.34	4.47	0.54385	Ferric reductase, NAD binding (1);	0.153147	0.46145	D	0.000305	D	0.93792	0.8015	M	0.66297	2.02	0.37764	D	0.926437	P	0.43938	0.822	P	0.46172	0.506	D	0.92685	0.6161	10	0.39692	T	0.17	-12.4805	10.3771	0.44088	0.1501:0.0:0.8499:0.0	.	513	Q9HBY0	NOX3_HUMAN	K	513	ENSP00000159060:N513K	ENSP00000159060:N513K	N	-	3	2	NOX3	155769997	1.000000	0.71417	0.991000	0.47740	0.737000	0.42083	6.847000	0.75404	1.386000	0.46466	0.655000	0.94253	AAC		0.478	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			25	134	1	0	5.45e-15	7.01e-15	25	134				
MAP3K4	4216	broad.mit.edu	37	6	161519401	161519401	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:161519401A>T	ENST00000392142.4	+	17	3764	c.3616A>T	c.(3616-3618)Agc>Tgc	p.S1206C	MAP3K4_ENST00000366920.2_Missense_Mutation_p.S1202C|MAP3K4_ENST00000348824.7_Intron|MAP3K4_ENST00000366919.2_Intron	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1206					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CAGTCGGCCCAGCCCCTCTGG	0.627																																						uc003qtn.2		NA																	0				ovary(3)|lung(3)|skin(2)|stomach(1)	9						c.(3616-3618)AGC>TGC		mitogen-activated protein kinase kinase kinase 4							133.0	118.0	123.0					6																	161519401		2203	4300	6503	SO:0001583	missense	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161519401A>T	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.3616A>T	6.37:g.161519401A>T	ENSP00000375986:p.Ser1206Cys					MAP3K4_uc010kkc.1_Missense_Mutation_p.S1202C|MAP3K4_uc003qto.2_Intron|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Missense_Mutation_p.S659C|MAP3K4_uc003qtp.2_Intron|MAP3K4_uc003qtq.2_5'Flank	p.S1206C	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	17	3758	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	1206					A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	c.3616A>T	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	A	9.024	0.985685	0.18889	.	.	ENSG00000085511	ENST00000392142;ENST00000366920	T;T	0.72051	-0.62;-0.61	5.61	-0.579	0.11720	.	1.082020	0.07035	N	0.829073	T	0.36608	0.0973	N	0.08118	0	0.80722	D	1	P;B	0.36315	0.547;0.291	B;B	0.43331	0.416;0.125	T	0.19095	-1.0316	10	0.48119	T	0.1	-12.3607	6.061	0.19839	0.3273:0.1192:0.5535:0.0	.	1202;1206	F5H538;Q9Y6R4	.;M3K4_HUMAN	C	1206;1202	ENSP00000375986:S1206C;ENSP00000355887:S1202C	ENSP00000355887:S1202C	S	+	1	0	MAP3K4	161439391	0.131000	0.22433	0.323000	0.25347	0.009000	0.06853	1.013000	0.29937	-0.468000	0.06922	-0.911000	0.02809	AGC		0.627	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			21	128	0	0	0	0	21	128				
SUN3	256979	broad.mit.edu	37	7	48046766	48046766	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr7:48046766G>T	ENST00000297325.4	-	5	647	c.488C>A	c.(487-489)aCa>aAa	p.T163K	SUN3_ENST00000412142.1_Missense_Mutation_p.T63K|SUN3_ENST00000395572.2_Missense_Mutation_p.T163K|SUN3_ENST00000453192.2_Missense_Mutation_p.T151K	NM_001030019.1	NP_001025190.1	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	163						integral component of membrane (GO:0016021)|SUN-KASH complex (GO:0034993)				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAGGACCTCTGTGTGGTCCGG	0.552																																						uc003tof.2		NA																	0				central_nervous_system(1)	1						c.(487-489)ACA>AAA		Sad1 and UNC84 domain containing 1							95.0	93.0	93.0					7																	48046766		2203	4300	6503	SO:0001583	missense	256979					integral to membrane		g.chr7:48046766G>T	AF429967	CCDS34636.1, CCDS64647.1	7p12.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164744	ENSG00000164744			22429	protein-coding gene	gene with protein product			"""Sad1 and UNC84 domain containing 1"""	SUNC1			Standard	NM_001284350		Approved	MGC33329	uc003tof.3	Q8TAQ9	OTTHUMG00000155646	ENST00000297325.4:c.488C>A	7.37:g.48046766G>T	ENSP00000297325:p.Thr163Lys					SUN3_uc010kyq.2_Missense_Mutation_p.T63K|SUN3_uc003tog.2_Missense_Mutation_p.T163K|SUN3_uc011kcf.1_Missense_Mutation_p.T151K	p.T163K	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN			6	585	-			163					A4D2F3|B4DXK1|D3DVM3|E7EWC8|Q4F965|Q7Z4U8	Missense_Mutation	SNP	ENST00000297325.4	37	c.488C>A	CCDS34636.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.14|10.14	1.269115|1.269115	0.23221|0.23221	.|.	.|.	ENSG00000164744|ENSG00000164744	ENST00000453071|ENST00000297325;ENST00000412142;ENST00000395572;ENST00000453192;ENST00000438771	.|T;T;T;T;T	.|0.22743	.|1.94;1.94;1.94;2.53;1.94	4.9|4.9	1.71|1.71	0.24356|0.24356	.|.	.|2.826390	.|0.00948	.|N	.|0.002921	T|T	0.17534|0.17534	0.0421|0.0421	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.23442	.|0.019;0.085;0.012	.|B;B;B	.|0.21917	.|0.006;0.037;0.004	T|T	0.17048|0.17048	-1.0382|-1.0382	5|10	.|0.21540	.|T	.|0.41	.|.	4.6862|4.6862	0.12758|0.12758	0.1111:0.0:0.4895:0.3994|0.1111:0.0:0.4895:0.3994	.|.	.|151;63;163	.|E7EWC8;Q8TAQ9-2;Q8TAQ9	.|.;.;SUN3_HUMAN	K|K	83|163;63;163;151;63	.|ENSP00000297325:T163K;ENSP00000410204:T63K;ENSP00000378939:T163K;ENSP00000387525:T151K;ENSP00000409077:T63K	.|ENSP00000297325:T163K	Q|T	-|-	1|2	0|0	SUN3|SUN3	48013291|48013291	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.015000|0.015000	0.08874|0.08874	-0.085000|-0.085000	0.11250|0.11250	0.413000|0.413000	0.25759|0.25759	0.655000|0.655000	0.94253|0.94253	CAG|ACA		0.552	SUN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340962.1	NM_152782		26	75	1	0	5.46e-16	7.09e-16	26	75				
SEPT14	346288	broad.mit.edu	37	7	55874869	55874869	+	Silent	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr7:55874869G>A	ENST00000388975.3	-	8	1016	c.900C>T	c.(898-900)acC>acT	p.T300T		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	300	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GCTGAGTGTGGGTTTTTTCTT	0.348																																						uc003tqz.2		NA																	0					0						c.(898-900)ACC>ACT		septin 14							113.0	106.0	108.0					7																	55874869		2203	4300	6503	SO:0001819	synonymous_variant	346288				cell cycle|cell division	septin complex	GTP binding|protein binding	g.chr7:55874869G>A	AK126048	CCDS5519.2	7p11.2	2013-01-21			ENSG00000154997	ENSG00000154997		"""Septins"""	33280	protein-coding gene	gene with protein product		612140					Standard	NM_207366		Approved	FLJ44060	uc003tqz.2	Q6ZU15	OTTHUMG00000129341	ENST00000388975.3:c.900C>T	7.37:g.55874869G>A							p.T300T	NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		8	1017	-	Breast(14;0.214)		300					A6NCC2|B4DXD6	Silent	SNP	ENST00000388975.3	37	c.900C>T	CCDS5519.2																																																																																				0.348	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251489.2	NM_207366		42	126	0	0	0	0	42	126				
WBSCR17	64409	broad.mit.edu	37	7	71177039	71177039	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr7:71177039C>A	ENST00000333538.5	+	11	2339	c.1705C>A	c.(1705-1707)Ctg>Atg	p.L569M	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	569	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GGGACGCTGCCTGGAGGTGGA	0.577																																						uc003tvy.2		NA																	0				skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7						c.(1705-1707)CTG>ATG		UDP-GalNAc:polypeptide							78.0	83.0	81.0					7																	71177039		2203	4300	6503	SO:0001583	missense	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:71177039C>A	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1705C>A	7.37:g.71177039C>A	ENSP00000329654:p.Leu569Met					WBSCR17_uc003tvz.2_Missense_Mutation_p.L268M	p.L569M	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN			11	1705	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	569			Ricin B-type lectin.|Lumenal (Potential).		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	c.1705C>A	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771532	0.69992	.	.	ENSG00000185274	ENST00000333538	T	0.56611	0.45	5.26	5.26	0.73747	Ricin B-related lectin (1);Ricin B lectin (3);	0.000000	0.64402	D	0.000003	T	0.73768	0.3629	M	0.89287	3.02	0.44006	D	0.996718	D	0.89917	1.0	D	0.97110	1.0	T	0.76553	-0.2917	10	0.49607	T	0.09	.	9.6921	0.40134	0.0:0.8406:0.0:0.1594	.	569	Q6IS24	GLTL3_HUMAN	M	569	ENSP00000329654:L569M	ENSP00000329654:L569M	L	+	1	2	WBSCR17	70814975	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.101000	0.31037	2.456000	0.83038	0.563000	0.77884	CTG		0.577	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		55	193	1	0	1.81e-27	2.47e-27	55	193				
PCLO	27445	broad.mit.edu	37	7	82579984	82579984	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr7:82579984A>G	ENST00000333891.9	-	6	10257	c.9920T>C	c.(9919-9921)cTg>cCg	p.L3307P	PCLO_ENST00000423517.2_Missense_Mutation_p.L3307P|PCLO_ENST00000437081.1_Missense_Mutation_p.L27P	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTGCTCCTCCAGCTGCTGGTG	0.502																																						uc003uhx.2		NA																	0				ovary(7)	7						c.(9919-9921)CTG>CCG		piccolo isoform 1							137.0	128.0	131.0					7																	82579984		1980	4165	6145	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82579984A>G	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.9920T>C	7.37:g.82579984A>G	ENSP00000334319:p.Leu3307Pro					PCLO_uc003uhv.2_Missense_Mutation_p.L3307P|PCLO_uc010lec.2_Missense_Mutation_p.L272P	p.L3307P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			6	10209	-			3238			Gln-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.9920T>C	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	A	13.26	2.183629	0.38609	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517;ENST00000437081	T;T;T	0.41400	1.0;1.02;1.17	5.29	5.29	0.74685	.	.	.	.	.	T	0.63390	0.2507	M	0.69358	2.11	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.67300	-0.5705	9	0.87932	D	0	.	15.5102	0.75776	1.0:0.0:0.0:0.0	.	3238;3307;3307	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	P	3238;3307;3307;27	ENSP00000334319:L3307P;ENSP00000388393:L3307P;ENSP00000393760:L27P	ENSP00000334319:L3307P	L	-	2	0	PCLO	82417920	1.000000	0.71417	0.920000	0.36463	0.993000	0.82548	9.255000	0.95524	2.128000	0.65567	0.460000	0.39030	CTG		0.502	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		40	166	0	0	0	0	40	166				
NYAP1	222950	broad.mit.edu	37	7	100084710	100084710	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr7:100084710G>A	ENST00000300179.2	+	3	494	c.335G>A	c.(334-336)cGa>cAa	p.R112Q	NYAP1_ENST00000423930.1_Missense_Mutation_p.R112Q|NYAP1_ENST00000454988.1_Missense_Mutation_p.R55Q	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	112	Involved in CYFIP1- and NCKAP1-binding. {ECO:0000250}.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												AGCAGCACCCGAAGACCCCCT	0.701																																						uc003uvd.1		NA																	0				skin(1)	1						c.(334-336)CGA>CAA		hypothetical protein FLJ37538							19.0	26.0	24.0					7																	100084710		2197	4280	6477	SO:0001583	missense	222950							g.chr7:100084710G>A	AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"""chromosome 7 open reading frame 51"", ""KIAA1486-like"""	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.335G>A	7.37:g.100084710G>A	ENSP00000300179:p.Arg112Gln					C7orf51_uc003uve.1_5'Flank	p.R112Q	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN			3	494	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		112					Q6U9Y3|Q8N1V0	Missense_Mutation	SNP	ENST00000300179.2	37	c.335G>A	CCDS5696.1	.	.	.	.	.	.	.	.	.	.	G	34	5.330728	0.95733	.	.	ENSG00000166924	ENST00000300179;ENST00000423930;ENST00000454988	T;T;T	0.52057	0.68;0.68;0.68	5.03	5.03	0.67393	.	0.000000	0.42821	D	0.000653	T	0.61887	0.2383	L	0.46157	1.445	0.58432	D	0.999996	D	0.89917	1.0	D	0.81914	0.995	T	0.60821	-0.7187	10	0.48119	T	0.1	-3.1548	15.8881	0.79269	0.0:0.0:1.0:0.0	.	112	Q6ZVC0	CG051_HUMAN	Q	112;112;55	ENSP00000300179:R112Q;ENSP00000411861:R112Q;ENSP00000394424:R55Q	ENSP00000300179:R112Q	R	+	2	0	C7orf51	99922646	1.000000	0.71417	0.921000	0.36526	0.967000	0.64934	5.239000	0.65371	2.606000	0.88127	0.462000	0.41574	CGA		0.701	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339335.2	NM_173564		22	45	0	0	0	0	22	45				
MOGAT3	346606	broad.mit.edu	37	7	100839228	100839228	+	Nonstop_Mutation	SNP	T	T	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr7:100839228T>A	ENST00000223114.4	-	7	1191	c.1025A>T	c.(1024-1026)tAg>tTg	p.*342L	MOGAT3_ENST00000379423.3_Silent_p.L274L|MOGAT3_ENST00000440203.2_3'UTR	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	0					glycerol metabolic process (GO:0006071)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					CGGCCAGGCCTAGATGAAGGT	0.602																																						uc003uyc.2		NA																	0				ovary(2)	2						c.(1024-1026)TAG>TTG		monoacylglycerol O-acyltransferase 3							67.0	68.0	68.0					7																	100839228		2203	4300	6503	SO:0001578	stop_lost	346606				glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity	g.chr7:100839228T>A	AY229854	CCDS5714.1, CCDS75643.1	7q22	2012-09-06			ENSG00000106384	ENSG00000106384	2.3.1.20, 2.3.1.22		23249	protein-coding gene	gene with protein product		610184				12618427, 14970677	Standard	XM_005250309		Approved	DC7, MGAT3	uc003uyc.3	Q86VF5	OTTHUMG00000023328	ENST00000223114.4:c.1025A>T	7.37:g.100839228T>A						MOGAT3_uc010lhr.2_Silent_p.L274L	p.*342L	NM_178176	NP_835470	Q86VF5	MOGT3_HUMAN			7	1192	-	Lung NSC(181;0.168)|all_lung(186;0.215)		342					Q496A6|Q496A7|Q496A8|Q9UDW7	Nonstop_Mutation	SNP	ENST00000223114.4	37	c.1025A>T	CCDS5714.1	.	.	.	.	.	.	.	.	.	.	T	15.18	2.758271	0.49468	.	.	ENSG00000106384	ENST00000223114	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2142	0.48817	0.0:0.0:0.0:1.0	.	.	.	.	L	342	.	.	X	-	2	0	MOGAT3	100625948	0.243000	0.23878	0.048000	0.18961	0.046000	0.14306	2.840000	0.48215	1.908000	0.55244	0.524000	0.50904	TAG		0.602	MOGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059649.3	NM_178176		27	123	0	0	0	0	27	123				
CUX1	1523	broad.mit.edu	37	7	101839913	101839913	+	Splice_Site	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr7:101839913G>A	ENST00000292535.7	+	15	1260		c.e15-1		CUX1_ENST00000549414.2_Splice_Site|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000360264.3_Splice_Site|CUX1_ENST00000556210.1_Intron|SNORA48_ENST00000517015.1_RNA|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000550008.2_Splice_Site|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000546411.2_Intron|CUX1_ENST00000547394.2_Intron	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1						auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CTTCCTTGTAGGGTCAGCCAG	0.552																																						uc003uyx.3		NA																	0				ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.e15-1		cut-like homeobox 1 isoform a							32.0	39.0	36.0					7																	101839913		2190	4288	6478	SO:0001630	splice_region_variant	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101839913G>A	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.1223-1G>A	7.37:g.101839913G>A						CUX1_uc003uys.3_Splice_Site_p.G419_splice|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron	p.G408_splice	NM_181552	NP_853530	P39880	CUX1_HUMAN			15	1261	+								B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Splice_Site	SNP	ENST00000292535.7	37	c.1223_splice	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.999036	0.74818	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8603	0.96781	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CUX1	101626633	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.008000	0.93601	2.687000	0.91594	0.561000	0.74099	.		0.552	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913	Intron	35	135	0	0	0	0	35	135				
CTTNBP2	83992	broad.mit.edu	37	7	117407111	117407111	+	Splice_Site	SNP	A	A	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr7:117407111A>C	ENST00000160373.3	-	9	2988		c.e9+1			NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2						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)		AACATCACTCACTCAGATTCT	0.458																																						uc003vjf.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.e9+1		cortactin binding protein 2							140.0	122.0	128.0					7																	117407111		2203	4300	6503	SO:0001630	splice_region_variant	83992							g.chr7:117407111A>C		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.2896+1T>G	7.37:g.117407111A>C							p.N966_splice	NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	9	2988	-	Lung NSC(10;0.0018)|all_lung(10;0.002)							O43389|Q7LG11|Q9C0A5	Splice_Site	SNP	ENST00000160373.3	37	c.2896_splice	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	A	18.27	3.586525	0.66105	.	.	ENSG00000077063	ENST00000160373;ENST00000446636	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.152	0.81629	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CTTNBP2	117194347	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	6.964000	0.76061	2.279000	0.76181	0.459000	0.35465	.		0.458	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427	Intron	28	108	0	0	0	0	28	108				
PTPRZ1	5803	broad.mit.edu	37	7	121699858	121699858	+	Silent	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr7:121699858C>T	ENST00000393386.2	+	29	7134	c.6723C>T	c.(6721-6723)caC>caT	p.H2241H	PTPRZ1_ENST00000449182.1_Silent_p.H1374H	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	2241	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CCCTTATGCACCAACTAGAAA	0.428																																						uc003vjy.2		NA																	0				ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						c.(6721-6723)CAC>CAT		protein tyrosine phosphatase, receptor-type,							114.0	109.0	111.0					7																	121699858		2203	4300	6503	SO:0001819	synonymous_variant	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121699858C>T	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.6723C>T	7.37:g.121699858C>T						PTPRZ1_uc003vjz.2_Silent_p.H1374H|PTPRZ1_uc011knt.1_Silent_p.H831H	p.H2241H	NM_002851	NP_002842	P23471	PTPRZ_HUMAN			29	7118	+			2241			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.		A4D0W5|C9JFM0|O76043|Q9UDR6	Silent	SNP	ENST00000393386.2	37	c.6723C>T	CCDS34740.1																																																																																				0.428	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		52	148	0	0	0	0	52	148				
CALD1	800	broad.mit.edu	37	7	134635184	134635184	+	Silent	SNP	A	A	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr7:134635184A>G	ENST00000361675.2	+	9	2083	c.1854A>G	c.(1852-1854)aaA>aaG	p.K618K	CALD1_ENST00000361901.2_Silent_p.K363K|CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000495522.1_Silent_p.K383K|CALD1_ENST00000422748.1_Silent_p.K389K|CALD1_ENST00000393118.2_Silent_p.K383K|CALD1_ENST00000424922.1_Silent_p.K357K|CALD1_ENST00000361388.2_Silent_p.K389K|CALD1_ENST00000543443.1_Silent_p.K368K|CALD1_ENST00000417172.1_Silent_p.K363K			Q05682	CALD1_HUMAN	caldesmon 1	618	Tropomyosin-binding. {ECO:0000255}.				cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						CTGCTGAGAAACGCCAGAAGA	0.433																																						uc003vrz.2		NA																	0					0						c.(1852-1854)AAA>AAG		caldesmon 1 isoform 1							96.0	96.0	96.0					7																	134635184		2203	4300	6503	SO:0001819	synonymous_variant	800				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding	g.chr7:134635184A>G	M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.1854A>G	7.37:g.134635184A>G						CALD1_uc003vry.2_Silent_p.K363K|CALD1_uc003vsa.2_Silent_p.K389K|CALD1_uc003vsb.2_Silent_p.K363K|CALD1_uc010lmm.2_Silent_p.K389K|CALD1_uc011kpt.1_Silent_p.K137K|CALD1_uc003vsc.2_Silent_p.K383K|CALD1_uc003vsd.2_Silent_p.K357K|CALD1_uc011kpu.1_Silent_p.K368K|CALD1_uc011kpv.1_Silent_p.K227K|CALD1_uc003vse.2_Silent_p.K482K	p.K618K	NM_033138	NP_149129	Q05682	CALD1_HUMAN			9	2313	+			618			Tropomyosin-binding (Potential).		A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Silent	SNP	ENST00000361675.2	37	c.1854A>G	CCDS5835.1																																																																																				0.433	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	NM_033138		36	68	0	0	0	0	36	68				
CNTNAP2	26047	broad.mit.edu	37	7	146471453	146471453	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr7:146471453C>A	ENST00000361727.3	+	2	704	c.188C>A	c.(187-189)gCc>gAc	p.A63D		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	63	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CCCGGCTATGCCAAGATAAAC	0.368										HNSCC(39;0.1)																												uc003weu.1		NA																	0				ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(187-189)GCC>GAC		cell recognition molecule Caspr2 precursor							65.0	64.0	65.0					7																	146471453		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146471453C>A	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.188C>A	7.37:g.146471453C>A	ENSP00000354778:p.Ala63Asp	HNSCC(39;0.1)					p.A63D	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		2	704	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	63			F5/8 type C.|Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.188C>A	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705504	0.89018	.	.	ENSG00000174469	ENST00000361727	D	0.98585	-5.01	5.74	5.74	0.90152	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.49916	D	0.000137	D	0.99435	0.9800	H	0.98664	4.295	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.98327	1.0531	10	0.87932	D	0	.	17.4268	0.87528	0.0:1.0:0.0:0.0	.	63	Q9UHC6	CNTP2_HUMAN	D	63	ENSP00000354778:A63D	ENSP00000354778:A63D	A	+	2	0	CNTNAP2	146102386	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	6.985000	0.76193	2.714000	0.92807	0.650000	0.86243	GCC		0.368	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			23	43	1	0	1.64e-13	2.09e-13	23	43				
KMT2C	58508	broad.mit.edu	37	7	151880230	151880230	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr7:151880230T>A	ENST00000262189.6	-	35	5312	c.5094A>T	c.(5092-5094)agA>agT	p.R1698S	KMT2C_ENST00000355193.2_Missense_Mutation_p.R1698S	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1698					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)										CTCTGTTATCTCTGGCTTTTT	0.323																																						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.(5092-5094)AGA>AGT		myeloid/lymphoid or mixed-lineage leukemia 3							231.0	242.0	238.0					7																	151880230		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151880230T>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.5094A>T	7.37:g.151880230T>A	ENSP00000262189:p.Arg1698Ser					MLL3_uc003wkz.2_Missense_Mutation_p.R759S	p.R1698S	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)	35	5313	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	1698					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.5094A>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	T	15.54	2.863316	0.51482	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.93811	-3.29;-3.29	5.1	1.2	0.21068	High mobility group, HMG1/HMG2 (1);	0.000000	0.49305	D	0.000155	D	0.94693	0.8288	M	0.66297	2.02	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.991;0.997	D	0.92156	0.5732	10	0.87932	D	0	.	6.3458	0.21349	0.0:0.1433:0.1614:0.6953	.	1698;759	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	S	1698	ENSP00000262189:R1698S;ENSP00000347325:R1698S	ENSP00000262189:R1698S	R	-	3	2	MLL3	151511163	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	2.552000	0.45828	0.009000	0.14813	0.460000	0.39030	AGA		0.323	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			145	328	0	0	0	0	145	328				
INTS10	55174	broad.mit.edu	37	8	19701638	19701638	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr8:19701638G>C	ENST00000397977.3	+	15	2169	c.1771G>C	c.(1771-1773)Gtg>Ctg	p.V591L		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	591					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		GCATGTGATTGTGTTGCTTCA	0.418																																						uc003wzj.2		NA																	0				ovary(1)	1						c.(1771-1773)GTG>CTG		integrator complex subunit 10							87.0	87.0	87.0					8																	19701638		1911	4132	6043	SO:0001583	missense	55174				snRNA processing	integrator complex	protein binding	g.chr8:19701638G>C	AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"""chromosome 8 open reading frame 35"""	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.1771G>C	8.37:g.19701638G>C	ENSP00000381064:p.Val591Leu						p.V591L	NM_018142	NP_060612	Q9NVR2	INT10_HUMAN		Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)	15	1902	+			591					Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Missense_Mutation	SNP	ENST00000397977.3	37	c.1771G>C	CCDS6011.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.6|21.6	4.170901|4.170901	0.78452|0.78452	.|.	.|.	ENSG00000104613|ENSG00000104613	ENST00000523772|ENST00000397977	.|T	.|0.42131	.|0.98	6.06|6.06	4.26|4.26	0.50523|0.50523	.|.	.|0.051876	.|0.85682	.|N	.|0.000000	T|T	0.39091|0.39091	0.1065|0.1065	M|M	0.64404|0.64404	1.975|1.975	0.54753|0.54753	D|D	0.999984|0.999984	.|B	.|0.06786	.|0.001	.|B	.|0.11329	.|0.006	T|T	0.15809|0.15809	-1.0424|-1.0424	5|9	.|.	.|.	.|.	-21.5363|-21.5363	11.1739|11.1739	0.48588|0.48588	0.0695:0.1282:0.8023:0.0|0.0695:0.1282:0.8023:0.0	.|.	.|591	.|Q9NVR2	.|INT10_HUMAN	F|L	27|591	.|ENSP00000381064:V591L	.|.	L|V	+|+	3|1	2|0	INTS10|INTS10	19745918|19745918	1.000000|1.000000	0.71417|0.71417	0.031000|0.031000	0.17742|0.17742	0.805000|0.805000	0.45488|0.45488	9.476000|9.476000	0.97823|0.97823	0.874000|0.874000	0.35823|0.35823	0.650000|0.650000	0.86243|0.86243	TTG|GTG		0.418	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	NM_018142		28	70	0	0	0	0	28	70				
MTFR1	9650	broad.mit.edu	37	8	66582207	66582207	+	Missense_Mutation	SNP	G	G	T	rs370438318		TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr8:66582207G>T	ENST00000262146.4	+	2	146	c.20G>T	c.(19-21)cGc>cTc	p.R7L	MTFR1_ENST00000517944.1_3'UTR|MTFR1_ENST00000458689.2_Missense_Mutation_p.R7L	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	7					aerobic respiration (GO:0009060)|mitochondrial fission (GO:0000266)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			TGGATTAAGCGCCTAATTAGG	0.368																																						uc003xvm.2		NA																	0				pancreas(1)	1						c.(19-21)CGC>CTC		mitochondrial fission regulator 1 isoform 1							151.0	149.0	149.0					8																	66582207		2203	4300	6503	SO:0001583	missense	9650					mitochondrion|plasma membrane		g.chr8:66582207G>T		CCDS6182.1, CCDS55240.1	8q13.1	2012-11-30							29510	protein-coding gene	gene with protein product	"""likely ortholog of chicken chondrocyte protein with a poly proline region"""					7584026, 7584028, 15389597	Standard	NM_014637		Approved	CHPPR, KIAA0009, FAM54A2	uc003xvn.2	Q15390		ENST00000262146.4:c.20G>T	8.37:g.66582207G>T	ENSP00000262146:p.Arg7Leu					MTFR1_uc011lep.1_Missense_Mutation_p.R7L|MTFR1_uc003xvn.2_Missense_Mutation_p.R7L|MTFR1_uc003xvo.1_5'UTR	p.R7L	NM_014637	NP_055452	Q15390	MTFR1_HUMAN	Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)		2	232	+			7					E7EP84|Q6IB94|Q7Z669|Q86XH5|Q8IVD7	Missense_Mutation	SNP	ENST00000262146.4	37	c.20G>T	CCDS6182.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.570987	0.45798	.	.	ENSG00000066855	ENST00000518609;ENST00000262146;ENST00000458689	T	0.43294	0.95	5.38	4.49	0.54785	.	0.433488	0.26765	N	0.022604	T	0.32466	0.0830	L	0.44542	1.39	0.25384	N	0.988586	P;P;P	0.40909	0.548;0.732;0.478	B;B;B	0.35813	0.137;0.195;0.211	T	0.37033	-0.9723	10	0.56958	D	0.05	.	10.5619	0.45150	0.0925:0.0:0.9075:0.0	.	7;7;7	B4E3G8;E7EP84;Q15390	.;.;MTFR1_HUMAN	L	7	ENSP00000262146:R7L	ENSP00000262146:R7L	R	+	2	0	MTFR1	66744761	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.808000	0.47963	2.520000	0.84964	0.650000	0.86243	CGC		0.368	MTFR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378894.1	NM_014637		23	205	1	0	8.25e-16	1.07e-15	23	205				
CSMD3	114788	broad.mit.edu	37	8	113237020	113237020	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr8:113237020T>C	ENST00000297405.5	-	71	11348	c.11104A>G	c.(11104-11106)Acg>Gcg	p.T3702A	CSMD3_ENST00000352409.3_Missense_Mutation_p.T3632A|CSMD3_ENST00000343508.3_Missense_Mutation_p.T3662A|CSMD3_ENST00000455883.2_Missense_Mutation_p.T3533A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3702						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						GTGCAAACCGTGTTCAAGTTG	0.423										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.(11104-11106)ACG>GCG		CUB and Sushi multiple domains 3 isoform 1							369.0	310.0	330.0					8																	113237020		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113237020T>C	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.11104A>G	8.37:g.113237020T>C	ENSP00000297405:p.Thr3702Ala	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.T2904A|CSMD3_uc003ynt.2_Missense_Mutation_p.T3662A|CSMD3_uc011lhx.1_Missense_Mutation_p.T3533A	p.T3702A	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			71	11263	-			3702			Cytoplasmic (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.11104A>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.041517	0.75732	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.37235	1.56;1.55;1.65;1.21;1.61	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.60170	0.2248	M	0.73217	2.22	0.58432	D	0.999995	D;D;D	0.69078	0.997;0.995;0.961	D;D;P	0.77557	0.99;0.978;0.839	T	0.64279	-0.6445	10	0.87932	D	0	.	15.8958	0.79333	0.0:0.0:0.0:1.0	.	3533;3702;3662	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	A	3662;3702;2972;3533;3632	ENSP00000345799:T3662A;ENSP00000297405:T3702A;ENSP00000341558:T2972A;ENSP00000412263:T3533A;ENSP00000343124:T3632A	ENSP00000297405:T3702A	T	-	1	0	CSMD3	113306196	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.920000	0.87521	2.209000	0.71365	0.482000	0.46254	ACG		0.423	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		134	262	0	0	0	0	134	262				
CSMD3	114788	broad.mit.edu	37	8	113256623	113256623	+	Splice_Site	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr8:113256623C>T	ENST00000297405.5	-	65	10646	c.10402G>A	c.(10402-10404)Gct>Act	p.A3468T	CSMD3_ENST00000352409.3_Splice_Site_p.A3398T|CSMD3_ENST00000343508.3_Splice_Site_p.A3428T|CSMD3_ENST00000455883.2_Splice_Site_p.A3299T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3468	Sushi 28. {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						GAAAACTTACCTTCACAAATG	0.398										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.(10402-10404)GCT>ACT		CUB and Sushi multiple domains 3 isoform 1							89.0	82.0	85.0					8																	113256623		2203	4300	6503	SO:0001630	splice_region_variant	114788					integral to membrane|plasma membrane		g.chr8:113256623C>T	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.10402+1G>A	8.37:g.113256623C>T		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.A2670T|CSMD3_uc003ynt.2_Missense_Mutation_p.A3428T|CSMD3_uc011lhx.1_Missense_Mutation_p.A3299T	p.A3468T	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			65	10561	-			3468			Extracellular (Potential).|Sushi 28.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.10402G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.371214	0.82573	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	5.37	5.37	0.77165	Complement control module (2);Sushi/SCR/CCP (1);	0.175111	0.34879	N	0.003602	T	0.45558	0.1348	M	0.79926	2.475	0.43399	D	0.995524	B;P;B	0.35433	0.174;0.501;0.032	B;B;B	0.24541	0.04;0.054;0.037	T	0.49615	-0.8921	9	.	.	.	.	19.3052	0.94158	0.0:1.0:0.0:0.0	.	3299;3468;3428	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	T	3428;3468;2738;3299;3398	ENSP00000345799:A3428T;ENSP00000297405:A3468T;ENSP00000341558:A2738T;ENSP00000412263:A3299T;ENSP00000343124:A3398T	.	A	-	1	0	CSMD3	113325799	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	4.579000	0.60936	2.793000	0.96121	0.591000	0.81541	GCT		0.398	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	Missense_Mutation	25	161	0	0	0	0	25	161				
CSMD3	114788	broad.mit.edu	37	8	113395847	113395847	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr8:113395847C>A	ENST00000297405.5	-	37	6224	c.5980G>T	c.(5980-5982)Gac>Tac	p.D1994Y	CSMD3_ENST00000352409.3_Missense_Mutation_p.D1924Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.D1954Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.D1890Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1994	CUB 11. {ECO:0000255|PROSITE- ProRule:PRU00059}.					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						TCATAAAAGTCCAGAGAATCC	0.343										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.(5980-5982)GAC>TAC		CUB and Sushi multiple domains 3 isoform 1							84.0	82.0	83.0					8																	113395847		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113395847C>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.5980G>T	8.37:g.113395847C>A	ENSP00000297405:p.Asp1994Tyr	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.D1196Y|CSMD3_uc003ynt.2_Missense_Mutation_p.D1954Y|CSMD3_uc011lhx.1_Missense_Mutation_p.D1890Y	p.D1994Y	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			37	6139	-			1994			Extracellular (Potential).|CUB 11.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.5980G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347696	0.82022	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.18810	2.19;2.19;2.19;2.19;2.19	4.42	4.42	0.53409	CUB (5);	0.000000	0.85682	D	0.000000	T	0.29882	0.0747	N	0.12611	0.24	0.80722	D	1	D;P;D	0.89917	1.0;0.653;0.998	D;P;D	0.76071	0.987;0.533;0.976	T	0.37056	-0.9722	10	0.72032	D	0.01	.	17.5729	0.87940	0.0:1.0:0.0:0.0	.	1890;1994;1954	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Y	1954;1994;1264;1890;1924	ENSP00000345799:D1954Y;ENSP00000297405:D1994Y;ENSP00000341558:D1264Y;ENSP00000412263:D1890Y;ENSP00000343124:D1924Y	ENSP00000297405:D1994Y	D	-	1	0	CSMD3	113465023	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.574000	0.82434	2.440000	0.82611	0.467000	0.42956	GAC		0.343	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		45	109	1	0	1.66e-12	2.08e-12	45	109				
TMEM71	137835	broad.mit.edu	37	8	133723206	133723206	+	Silent	SNP	A	A	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr8:133723206A>G	ENST00000523829.1	-	9	958	c.837T>C	c.(835-837)caT>caC	p.H279H	TMEM71_ENST00000377901.4_3'UTR|TMEM71_ENST00000356838.3_3'UTR			Q6P5X7	TMM71_HUMAN	transmembrane protein 71	0						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GCATTCCTAAATGGTTGTCAA	0.383																																						uc003ytp.2		NA																	0				ovary(2)	2						c.(832-834)CAT>CAC		transmembrane protein 71 isoform 1							115.0	121.0	119.0					8																	133723206		2203	4300	6503	SO:0001819	synonymous_variant	137835					integral to membrane		g.chr8:133723206A>G	AK057631	CCDS6366.1, CCDS47921.1	8q24.22	2005-09-02				ENSG00000165071			26572	protein-coding gene	gene with protein product						12477932	Standard	NM_144649		Approved	FLJ33069	uc003ytn.3	Q6P5X7		ENST00000523829.1:c.837T>C	8.37:g.133723206A>G						TMEM71_uc003ytm.1_3'UTR|TMEM71_uc003ytn.2_3'UTR|TMEM71_uc003yto.2_3'UTR	p.H278H	NM_144649	NP_653250	Q6P5X7	TMM71_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		9	1063	-	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		Error:Variant_position_missing_in_Q6P5X7_after_alignment					Q3KRC2|Q8WVZ4|Q96LX9	Silent	SNP	ENST00000523829.1	37	c.834T>C																																																																																					0.383	TMEM71-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000379590.1	NM_144649		56	165	0	0	0	0	56	165				
FAM135B	51059	broad.mit.edu	37	8	139144990	139144990	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr8:139144990G>A	ENST00000395297.1	-	20	4237	c.4067C>T	c.(4066-4068)gCc>gTc	p.A1356V		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1356										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GCAGTCCTTGGCTTCAACCAG	0.537										HNSCC(54;0.14)																												uc003yuy.2		NA																	0				ovary(7)|skin(2)	9						c.(4066-4068)GCC>GTC		hypothetical protein LOC51059							228.0	236.0	233.0					8																	139144990		1980	4163	6143	SO:0001583	missense	51059							g.chr8:139144990G>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.4067C>T	8.37:g.139144990G>A	ENSP00000378710:p.Ala1356Val	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.A1257V|FAM135B_uc003yuz.2_RNA	p.A1356V	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		20	4238	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1356					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.4067C>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	32	5.110691	0.94292	.	.	ENSG00000147724	ENST00000395297	T	0.15834	2.39	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.34454	0.0898	L	0.40543	1.245	0.40368	D	0.979315	D	0.76494	0.999	D	0.65987	0.94	T	0.02450	-1.1157	10	0.72032	D	0.01	-23.5791	18.906	0.92462	0.0:0.0:1.0:0.0	.	1356	Q49AJ0	F135B_HUMAN	V	1356	ENSP00000378710:A1356V	ENSP00000378710:A1356V	A	-	2	0	FAM135B	139214172	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.903000	0.87398	2.723000	0.93209	0.655000	0.94253	GCC		0.537	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		96	513	0	0	0	0	96	513				
FAM135B	51059	broad.mit.edu	37	8	139153488	139153488	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr8:139153488C>G	ENST00000395297.1	-	17	3913	c.3743G>C	c.(3742-3744)gGg>gCg	p.G1248A		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1248										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CAGGTGAGGCCCAGAGAGTGA	0.522										HNSCC(54;0.14)																												uc003yuy.2		NA																	0				ovary(7)|skin(2)	9						c.(3742-3744)GGG>GCG		hypothetical protein LOC51059							149.0	158.0	155.0					8																	139153488		1968	4150	6118	SO:0001583	missense	51059							g.chr8:139153488C>G	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3743G>C	8.37:g.139153488C>G	ENSP00000378710:p.Gly1248Ala	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.G1149A|FAM135B_uc003yuz.2_RNA	p.G1248A	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		17	3914	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1248					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.3743G>C	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	33	5.227812	0.95173	.	.	ENSG00000147724	ENST00000395297	T	0.45276	0.9	5.83	5.83	0.93111	Domain of unknown function DUF676, lipase-like (1);	0.000000	0.85682	D	0.000000	T	0.64692	0.2621	M	0.62154	1.92	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65199	-0.6226	10	0.87932	D	0	-24.0159	19.1034	0.93283	0.0:1.0:0.0:0.0	.	1248	Q49AJ0	F135B_HUMAN	A	1248	ENSP00000378710:G1248A	ENSP00000378710:G1248A	G	-	2	0	FAM135B	139222670	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	7.818000	0.86416	2.750000	0.94351	0.655000	0.94253	GGG		0.522	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		20	108	0	0	0	0	20	108				
FAM135B	51059	broad.mit.edu	37	8	139165358	139165358	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr8:139165358A>T	ENST00000395297.1	-	13	1530	c.1360T>A	c.(1360-1362)Tta>Ata	p.L454I		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	454										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTAAAAGATAAATTGCTATTT	0.373										HNSCC(54;0.14)																												uc003yuy.2		NA																	0				ovary(7)|skin(2)	9						c.(1360-1362)TTA>ATA		hypothetical protein LOC51059							71.0	68.0	69.0					8																	139165358		1879	4104	5983	SO:0001583	missense	51059							g.chr8:139165358A>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1360T>A	8.37:g.139165358A>T	ENSP00000378710:p.Leu454Ile	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.L355I|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.L16I|FAM135B_uc003yvb.2_Missense_Mutation_p.L16I	p.L454I	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	1531	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		454					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.1360T>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	A	7.924	0.739116	0.15642	.	.	ENSG00000147724	ENST00000395297	T	0.14144	2.53	5.6	-2.89	0.05665	.	1.447450	0.04311	N	0.348980	T	0.05686	0.0149	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.001;0.002;0.0	T	0.34601	-0.9822	10	0.37606	T	0.19	0.4001	0.1636	0.00106	0.2713:0.2311:0.1647:0.3329	.	454;454;454	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	I	454	ENSP00000378710:L454I	ENSP00000276737:L454I	L	-	1	2	FAM135B	139234540	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.210000	0.17455	-0.126000	0.11682	-1.184000	0.01707	TTA		0.373	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		31	127	0	0	0	0	31	127				
ADAMTSL1	92949	broad.mit.edu	37	9	18777172	18777172	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr9:18777172C>T	ENST00000380548.4	+	19	3284	c.2945C>T	c.(2944-2946)gCg>gTg	p.A982V		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	982						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GAGGTGCTTGCGGGGAGGAAG	0.672																																						uc003zne.3		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5						c.(2944-2946)GCG>GTG		ADAMTS-like 1 isoform 4 precursor							27.0	31.0	30.0					9																	18777172		1874	4080	5954	SO:0001583	missense	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18777172C>T	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.2945C>T	9.37:g.18777172C>T	ENSP00000369921:p.Ala982Val						p.A982V	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	19	3072	+			982					A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	c.2945C>T	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	C	3.184	-0.167197	0.06461	.	.	ENSG00000178031	ENST00000380548	T	0.62941	-0.01	5.63	-0.828	0.10799	.	0.390690	0.08080	U	1.000000	T	0.32496	0.0831	N	0.08118	0	0.09310	N	0.999999	B	0.18863	0.031	B	0.11329	0.006	T	0.11717	-1.0576	10	0.13470	T	0.59	.	1.6734	0.02817	0.2166:0.4082:0.1017:0.2734	.	982	Q8N6G6	ATL1_HUMAN	V	982	ENSP00000369921:A982V	ENSP00000369921:A982V	A	+	2	0	ADAMTSL1	18767172	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.081000	0.14823	-0.791000	0.04486	-1.644000	0.00765	GCG		0.672	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			10	184	0	0	0	0	10	184				
STOML2	30968	broad.mit.edu	37	9	35100719	35100719	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr9:35100719C>G	ENST00000356493.5	-	9	871	c.809G>C	c.(808-810)gGa>gCa	p.G270A	RP11-182N22.8_ENST00000431804.1_RNA|STOML2_ENST00000452248.2_Missense_Mutation_p.G225A|STOML2_ENST00000487490.1_5'Flank	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	270					CD4-positive, alpha-beta T cell activation (GO:0035710)|cellular calcium ion homeostasis (GO:0006874)|interleukin-2 production (GO:0032623)|lipid localization (GO:0010876)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|mitochondrial calcium ion transport (GO:0006851)|mitochondrial protein processing (GO:0034982)|mitochondrion organization (GO:0007005)|positive regulation of cardiolipin metabolic process (GO:1900210)|positive regulation of mitochondrial DNA replication (GO:0090297)|positive regulation of mitochondrial membrane potential (GO:0010918)|protein oligomerization (GO:0051259)|stress-induced mitochondrial fusion (GO:1990046)|T cell receptor signaling pathway (GO:0050852)	cytoskeleton (GO:0005856)|extrinsic component of plasma membrane (GO:0019897)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)	cardiolipin binding (GO:1901612)|receptor binding (GO:0005102)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TGCTGCATCTCCATTCTGTGA	0.512																																						uc003zwi.2		NA																	0					0						c.(808-810)GGA>GCA		stomatin (EPB72)-like 2							145.0	134.0	138.0					9																	35100719		2203	4300	6503	SO:0001583	missense	30968					cytoskeleton	receptor binding	g.chr9:35100719C>G	AF190167	CCDS6577.1, CCDS69588.1, CCDS75830.1	9p13.1	2008-02-05			ENSG00000165283	ENSG00000165283			14559	protein-coding gene	gene with protein product		608292				10713127, 17121834	Standard	NM_001287031		Approved	SLP-2, HSPC108	uc003zwi.3	Q9UJZ1	OTTHUMG00000019851	ENST00000356493.5:c.809G>C	9.37:g.35100719C>G	ENSP00000348886:p.Gly270Ala					STOML2_uc003zwh.2_Missense_Mutation_p.G161A|STOML2_uc003zwj.2_Missense_Mutation_p.G161A|STOML2_uc011lou.1_Missense_Mutation_p.G225A|STOML2_uc003zwk.2_Missense_Mutation_p.G219A	p.G270A	NM_013442	NP_038470	Q9UJZ1	STML2_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		9	872	-			270					B4E1K7|D3DRN3|O60376|Q53G29|Q96FY2|Q9P042	Missense_Mutation	SNP	ENST00000356493.5	37	c.809G>C	CCDS6577.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987878	0.74589	.	.	ENSG00000165283	ENST00000356493;ENST00000452248	D;D	0.98135	-3.61;-4.74	5.69	5.69	0.88448	.	0.110642	0.64402	D	0.000009	D	0.97823	0.9285	L	0.48260	1.515	0.80722	D	1	P;D	0.55605	0.861;0.972	P;P	0.59948	0.609;0.866	D	0.97436	1.0018	9	.	.	.	-1.9483	19.8047	0.96525	0.0:1.0:0.0:0.0	.	225;270	B4E1K7;Q9UJZ1	.;STML2_HUMAN	A	270;225	ENSP00000348886:G270A;ENSP00000395743:G225A	.	G	-	2	0	STOML2	35090719	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.818000	0.86416	2.692000	0.91855	0.563000	0.77884	GGA		0.512	STOML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052273.1	NM_013442		12	207	0	0	0	0	12	207				
TLN1	7094	broad.mit.edu	37	9	35717216	35717216	+	Silent	SNP	A	A	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr9:35717216A>T	ENST00000314888.9	-	19	2738	c.2385T>A	c.(2383-2385)gcT>gcA	p.A795A	TLN1_ENST00000540444.1_Silent_p.A795A	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	795					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)			CATAACGGCCAGCAGGCCCAG	0.567																																						uc003zxt.2		NA																	0				lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13						c.(2383-2385)GCT>GCA		talin 1							70.0	70.0	70.0					9																	35717216		2203	4300	6503	SO:0001819	synonymous_variant	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.chr9:35717216A>T	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.2385T>A	9.37:g.35717216A>T							p.A795A	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)		19	2739	-	all_epithelial(49;0.167)		795					A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Silent	SNP	ENST00000314888.9	37	c.2385T>A	CCDS35009.1																																																																																				0.567	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		26	44	0	0	0	0	26	44				
PGM5	5239	broad.mit.edu	37	9	71002394	71002394	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr9:71002394C>A	ENST00000396396.1	+	4	816	c.587C>A	c.(586-588)cCa>cAa	p.P196Q	PGM5_ENST00000604870.2_3'UTR|PGM5_ENST00000396392.1_Missense_Mutation_p.P196Q	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	196					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						ATAGTGGACCCAGTGGATATC	0.413																																						uc004agr.2		NA																	0				ovary(1)|pancreas(1)	2						c.(586-588)CCA>CAA		phosphoglucomutase 5							130.0	128.0	129.0					9																	71002394		2203	4299	6502	SO:0001583	missense	5239				cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	g.chr9:71002394C>A	L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"""phosphoglucomutase-related protein"""	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.587C>A	9.37:g.71002394C>A	ENSP00000379678:p.Pro196Gln						p.P196Q	NM_021965	NP_068800	Q15124	PGM5_HUMAN			4	816	+			196					B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Missense_Mutation	SNP	ENST00000396396.1	37	c.587C>A	CCDS6622.2	.	.	.	.	.	.	.	.	.	.	.	18.12	3.552536	0.65425	.	.	ENSG00000154330	ENST00000396396;ENST00000396392;ENST00000377314;ENST00000431583	T;T;T	0.63417	-0.04;-0.04;-0.02	5.16	5.16	0.70880	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);	0.067351	0.64402	U	0.000008	T	0.46308	0.1386	N	0.08118	0	0.46631	D	0.999136	B	0.16802	0.019	B	0.20184	0.028	T	0.45571	-0.9252	10	0.66056	D	0.02	.	17.4863	0.87689	0.0:1.0:0.0:0.0	.	196	Q15124	PGM5_HUMAN	Q	196;196;147;113	ENSP00000379678:P196Q;ENSP00000379674:P196Q;ENSP00000394864:P113Q	ENSP00000366531:P147Q	P	+	2	0	PGM5	70192214	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.572000	0.82409	2.400000	0.81607	0.567000	0.79289	CCA		0.413	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052548.2	NM_021965		89	177	1	0	8.98e-41	1.24e-40	89	177				
VPS13A	23230	broad.mit.edu	37	9	79959184	79959184	+	Missense_Mutation	SNP	G	G	T	rs200068581		TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr9:79959184G>T	ENST00000360280.3	+	51	7402	c.7142G>T	c.(7141-7143)cGt>cTt	p.R2381L	VPS13A_ENST00000376634.4_Missense_Mutation_p.R2381L|VPS13A_ENST00000376636.3_Missense_Mutation_p.R2342L|VPS13A_ENST00000357409.5_Missense_Mutation_p.R2381L	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2381					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ATTCTATTGCGTCTAGATAAC	0.299																																						uc004akr.2		NA																	0				pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						c.(7141-7143)CGT>CTT		vacuolar protein sorting 13A isoform A							92.0	103.0	100.0					9																	79959184		2203	4296	6499	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79959184G>T	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.7142G>T	9.37:g.79959184G>T	ENSP00000353422:p.Arg2381Leu					VPS13A_uc004akp.3_Missense_Mutation_p.R2381L|VPS13A_uc004akq.3_Missense_Mutation_p.R2381L|VPS13A_uc004aks.2_Missense_Mutation_p.R2342L	p.R2381L	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN			51	7402	+			2381					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.7142G>T	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	G	9.787	1.176767	0.21704	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.96	1.64	0.23874	Vacuolar protein sorting-associated protein (1);	0.235233	0.42548	D	0.000698	T	0.31857	0.0810	L	0.61218	1.895	0.80722	D	1	B;P;P;P	0.44241	0.071;0.829;0.632;0.632	B;P;B;B	0.45856	0.105;0.495;0.362;0.362	T	0.04811	-1.0925	10	0.52906	T	0.07	.	6.496	0.22142	0.5581:0.0:0.4419:0.0	.	2342;2381;2381;2381	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	L	2381;2342;2381;2381	ENSP00000365821:R2381L;ENSP00000365823:R2342L;ENSP00000353422:R2381L;ENSP00000349985:R2381L	ENSP00000349985:R2381L	R	+	2	0	VPS13A	79149004	0.893000	0.30496	0.976000	0.42696	0.033000	0.12548	1.355000	0.34068	0.444000	0.26612	-0.196000	0.12772	CGT		0.299	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		72	89	1	0	9.99e-38	1.37e-37	72	89				
CCDC180	100499483	broad.mit.edu	37	9	100116995	100116995	+	Splice_Site	SNP	G	G	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr9:100116995G>C	ENST00000357054.1	+	34	4127	c.3192G>C	c.(3190-3192)caG>caC	p.Q1064H	CCDC180_ENST00000529487.1_Splice_Site_p.Q1093H|CCDC180_ENST00000375202.2_Splice_Site_p.Q1093H|CCDC180_ENST00000395220.1_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1064						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											ACCTGGACCAGGTAGGGCCCC	0.567																																						uc011lut.1		NA																	0				ovary(4)|large_intestine(2)|skin(1)	7						c.(3694-3696)CAG>CAC		hypothetical protein LOC57653							55.0	55.0	55.0					9																	100116995		2203	4300	6503	SO:0001630	splice_region_variant	57653							g.chr9:100116995G>C	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.3192+1G>C	9.37:g.100116995G>C						KIAA1529_uc004axe.1_Missense_Mutation_p.Q1064H|KIAA1529_uc004axg.1_Missense_Mutation_p.Q1093H|KIAA1529_uc004axh.1_RNA|KIAA1529_uc011luw.1_Missense_Mutation_p.Q249H	p.Q1232H	NM_020893	NP_065944					35	4469	+		Acute lymphoblastic leukemia(62;0.154)						Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37	c.3696G>C		.	.	.	.	.	.	.	.	.	.	G	18.77	3.694338	0.68386	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000529487	T;T;T	0.11712	2.78;2.75;2.75	4.97	4.97	0.65823	.	0.129564	0.50627	D	0.000119	T	0.32164	0.0820	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.83275	0.966;0.996	T	0.01108	-1.1449	10	0.59425	D	0.04	-26.2849	16.5444	0.84410	0.0:0.0:1.0:0.0	.	1232;1064	B7ZMG3;Q9P1Z9	.;CI174_HUMAN	H	1064;1093;1093	ENSP00000349562:Q1064H;ENSP00000364348:Q1093H;ENSP00000434727:Q1093H	ENSP00000349562:Q1064H	Q	+	3	2	C9orf174	99156816	1.000000	0.71417	1.000000	0.80357	0.500000	0.33767	5.108000	0.64609	2.686000	0.91538	0.591000	0.81541	CAG		0.567	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893	Missense_Mutation	67	89	0	0	0	0	67	89				
KLF4	9314	broad.mit.edu	37	9	110250031	110250031	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr9:110250031G>A	ENST00000374672.4	-	3	1117	c.644C>T	c.(643-645)cCg>cTg	p.P215L		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	215	Pro-rich.				cellular response to cycloheximide (GO:0071409)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to peptide (GO:1901653)|epidermal cell differentiation (GO:0009913)|epidermis morphogenesis (GO:0048730)|fat cell differentiation (GO:0045444)|mesodermal cell fate determination (GO:0007500)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000342)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of muscle hyperplasia (GO:0014740)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic camera-type eye development (GO:0031077)|post-embryonic hemopoiesis (GO:0035166)|regulation of cell differentiation (GO:0045595)|response to retinoic acid (GO:0032526)|stem cell maintenance (GO:0019827)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|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 transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001010)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						CGGCTGCTGCGGCGGAATGTA	0.687																																						uc004bdh.2		NA																	0				central_nervous_system(2)|lung(1)	3						c.(616-618)CCG>CTG		Kruppel-like factor 4 (gut)							4.0	5.0	5.0					9																	110250031		2055	4081	6136	SO:0001583	missense	9314				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr9:110250031G>A	AF022184	CCDS6770.2	9q31	2013-01-08			ENSG00000136826	ENSG00000136826		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6348	protein-coding gene	gene with protein product		602253				9422764, 16372018	Standard	NM_004235		Approved	EZF, GKLF	uc004bdg.3	O43474	OTTHUMG00000020449	ENST00000374672.4:c.644C>T	9.37:g.110250031G>A	ENSP00000363804:p.Pro215Leu					KLF4_uc004bdf.1_Missense_Mutation_p.P165L|KLF4_uc004bdg.2_Missense_Mutation_p.P215L	p.P206L	NM_004235	NP_004226	O43474	KLF4_HUMAN			3	1238	-			215			Pro-rich.		B2R8S4|B3KT79|L0R3I6|L0R4N5|P78338|Q5T3J8|Q5T3J9|Q8N717|Q9UNP3	Missense_Mutation	SNP	ENST00000374672.4	37	c.617C>T	CCDS6770.2	.	.	.	.	.	.	.	.	.	.	G	18.66	3.672294	0.67928	.	.	ENSG00000136826	ENST00000374672;ENST00000411706	T	0.06294	3.32	4.42	1.27	0.21489	.	0.000000	0.37219	N	0.002189	T	0.03348	0.0097	N	0.19112	0.55	0.54753	D	0.999989	B;B	0.23490	0.052;0.086	B;B	0.12837	0.005;0.008	T	0.46386	-0.9195	10	0.52906	T	0.07	.	2.4608	0.04540	0.1023:0.1268:0.4046:0.3663	.	215;215	O43474;O43474-1	KLF4_HUMAN;.	L	215;206	ENSP00000363804:P215L	ENSP00000363804:P215L	P	-	2	0	KLF4	109289852	0.989000	0.36119	0.936000	0.37596	0.965000	0.64279	2.173000	0.42472	0.495000	0.27882	0.655000	0.94253	CCG		0.687	KLF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053556.2	NM_004235		6	5	0	0	0	0	6	5				
ZNF483	158399	broad.mit.edu	37	9	114289921	114289921	+	Silent	SNP	A	A	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr9:114289921A>G	ENST00000309235.5	+	2	404	c.246A>G	c.(244-246)agA>agG	p.R82R	ZNF483_ENST00000355824.3_Silent_p.R82R|ZNF483_ENST00000358151.4_Silent_p.R82R|ZNF483_ENST00000374374.3_Silent_p.R82R	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	82	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						AGTGGCTGAGACCAGACATTC	0.468																																						uc004bff.2		NA																	0				skin(1)	1						c.(244-246)AGA>AGG		zinc finger protein 483 isoform a							108.0	116.0	114.0					9																	114289921		2203	4300	6503	SO:0001819	synonymous_variant	158399				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:114289921A>G	AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.246A>G	9.37:g.114289921A>G						ZNF483_uc011lwq.1_Silent_p.R82R|ZNF483_uc004bfg.2_Silent_p.R82R|ZNF483_uc010mud.1_Silent_p.R82R	p.R82R	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN			2	470	+			82			SCAN box.		Q5VZN2|Q8NAE1	Silent	SNP	ENST00000309235.5	37	c.246A>G	CCDS35106.1																																																																																				0.468	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053641.1	XM_088567		63	76	0	0	0	0	63	76				
URM1	81605	broad.mit.edu	37	9	131140339	131140339	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr9:131140339C>T	ENST00000372847.1	+	2	111	c.101C>T	c.(100-102)aCg>aTg	p.T34M	URM1_ENST00000452446.1_Silent_p.D20D|URM1_ENST00000372853.4_Silent_p.D20D|URM1_ENST00000372850.1_Silent_p.D20D					ubiquitin related modifier 1											cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	5						TCCTGTTTGACGGTATTAAGA	0.507																																						uc004buv.2		NA																	0					0						c.(58-60)GAC>GAT		ubiquitin related modifier 1 homolog isoform a							132.0	120.0	124.0					9																	131140339		2203	4300	6503	SO:0001583	missense	81605				tRNA thio-modification|tRNA wobble uridine modification		protein binding	g.chr9:131140339C>T	AK097029	CCDS6900.1, CCDS48035.1, CCDS59148.1	9q34.13	2010-06-24	2010-06-24	2006-11-28	ENSG00000167118	ENSG00000167118			28378	protein-coding gene	gene with protein product		612693	"""chromosome 9 open reading frame 74"", ""ubiquitin related modifier 1 homolog (S. cerevisiae)"""	C9orf74		16046629, 16864801	Standard	NM_030914		Approved	MGC2668	uc011may.2	Q9BTM9	OTTHUMG00000020742	ENST00000372847.1:c.101C>T	9.37:g.131140339C>T	ENSP00000361938:p.Thr34Met					URM1_uc011may.1_Silent_p.D20D|URM1_uc004buw.2_RNA	p.D20D	NM_030914	NP_112176	Q9BTM9	URM1_HUMAN			2	122	+			20						Silent	SNP	ENST00000372847.1	37	c.60C>T		.	.	.	.	.	.	.	.	.	.	C	11.22	1.574727	0.28092	.	.	ENSG00000167118	ENST00000372847	.	.	.	5.54	-8.28	0.01013	.	.	.	.	.	T	0.74921	0.3780	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.82224	-0.0563	5	0.87932	D	0	-8.343	18.0535	0.89357	0.0:0.1565:0.0:0.8435	.	.	.	.	M	34	.	ENSP00000361938:T34M	T	+	2	0	URM1	130180160	0.309000	0.24518	0.148000	0.22405	0.837000	0.47467	-0.813000	0.04491	-1.548000	0.01712	-0.448000	0.05591	ACG		0.507	URM1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000054425.1	NM_030914		17	148	0	0	0	0	17	148				
GPR143	4935	broad.mit.edu	37	X	9728793	9728793	+	Silent	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chrX:9728793C>T	ENST00000467482.1	-	2	470	c.324G>A	c.(322-324)acG>acA	p.T108T	GPR143_ENST00000380929.2_Silent_p.T128T			P51810	GP143_HUMAN	G protein-coupled receptor 143	108					calcium-mediated signaling using intracellular calcium source (GO:0035584)|eye pigment biosynthetic process (GO:0006726)|G-protein coupled receptor signaling pathway (GO:0007186)|melanosome localization (GO:0032400)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|neuropeptide signaling pathway (GO:0007218)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of calcium-mediated signaling (GO:0050848)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|G-protein coupled receptor activity (GO:0004930)|L-DOPA binding (GO:0072544)|L-DOPA receptor activity (GO:0035643)|tyrosine binding (GO:0072545)			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				GCCAAATTTCCGTGTGGTTCA	0.517																																						uc004cst.1		NA																	0				ovary(1)	1						c.(382-384)ACG>ACA		G protein-coupled receptor 143							89.0	65.0	73.0					X																	9728793		2202	4299	6501	SO:0001819	synonymous_variant	4935				calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding	g.chrX:9728793C>T	Z48804	CCDS14134.1, CCDS14134.2	Xp22.3	2013-09-27	2003-12-01		ENSG00000101850	ENSG00000101850		"""GPCR / Unclassified : 7TM orphan receptors"""	20145	protein-coding gene	gene with protein product	"""ocular albinism 1"""	300808	"""ocular albinism 1 (Nettleship-Falls)"""	OA1		7647783, 10471510	Standard	NM_000273		Approved		uc004cst.2	P51810	OTTHUMG00000021118	ENST00000467482.1:c.324G>A	X.37:g.9728793C>T							p.T128T	NM_000273	NP_000264	P51810	GP143_HUMAN			2	384	-		Hepatocellular(5;0.000888)	108			Extracellular (Potential).		Q6NTI7	Silent	SNP	ENST00000467482.1	37	c.384G>A	CCDS14134.2	.	.	.	.	.	.	.	.	.	.	C	0.055	-1.240209	0.01493	.	.	ENSG00000101850	ENST00000447366	.	.	.	4.47	1.93	0.25924	.	.	.	.	.	T	0.46132	0.1377	.	.	.	0.40748	D	0.982895	.	.	.	.	.	.	T	0.27226	-1.0080	4	.	.	.	-21.4158	3.8784	0.09068	0.3272:0.0984:0.0:0.5744	.	.	.	.	R	44	.	.	G	-	1	0	GPR143	9688793	0.890000	0.30428	0.009000	0.14445	0.041000	0.13682	-0.231000	0.09069	0.007000	0.14760	-0.537000	0.04273	GGA		0.517	GPR143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055714.2	NM_000273		5	4	0	0	0	0	5	4				
FAM46D	169966	broad.mit.edu	37	X	79698219	79698219	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chrX:79698219G>C	ENST00000308293.5	+	3	420	c.181G>C	c.(181-183)Gcc>Ccc	p.A61P	FAM46D_ENST00000538312.1_Missense_Mutation_p.A61P	NM_152630.4	NP_689843.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	61										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						TGTTAAAGATGCCAGATTGAA	0.398																																						uc004edl.1		NA																	0				lung(2)	2						c.(181-183)GCC>CCC		hypothetical protein LOC169966							135.0	118.0	124.0					X																	79698219		2203	4300	6503	SO:0001583	missense	169966							g.chrX:79698219G>C	BX537938	CCDS14446.1	Xq21.1	2009-08-18			ENSG00000174016	ENSG00000174016			28399	protein-coding gene	gene with protein product	"""cancer/testis antigen 112"""					12477932	Standard	NM_152630		Approved	MGC26999, CT1.26, CT112	uc004edl.1	Q8NEK8	OTTHUMG00000021902	ENST00000308293.5:c.181G>C	X.37:g.79698219G>C	ENSP00000308575:p.Ala61Pro					FAM46D_uc004edm.1_Missense_Mutation_p.A61P	p.A61P	NM_152630	NP_689843	Q8NEK8	FA46D_HUMAN			5	515	+			61					B2R9Q6|Q7Z3F6|Q8NHU1	Missense_Mutation	SNP	ENST00000308293.5	37	c.181G>C	CCDS14446.1	.	.	.	.	.	.	.	.	.	.	G	3.480	-0.106149	0.06924	.	.	ENSG00000174016	ENST00000538312;ENST00000308293	T;T	0.23147	1.92;1.92	4.38	-2.88	0.05682	Domain of unknown function DUF1693 (1);	0.452396	0.23356	N	0.049063	T	0.08980	0.0222	N	0.08118	0	0.22034	N	0.999401	P	0.35821	0.523	B	0.33392	0.163	T	0.16453	-1.0402	10	0.87932	D	0	-0.7148	3.5537	0.07857	0.4312:0.0:0.1651:0.4037	.	61	Q8NEK8	FA46D_HUMAN	P	61	ENSP00000443410:A61P;ENSP00000308575:A61P	ENSP00000308575:A61P	A	+	1	0	FAM46D	79584875	0.999000	0.42202	0.044000	0.18714	0.001000	0.01503	0.957000	0.29215	-0.959000	0.03618	-2.092000	0.00371	GCC		0.398	FAM46D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057338.1	NM_152630		52	44	0	0	0	0	52	44				
ZNF75D	7626	broad.mit.edu	37	X	134428026	134428026	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chrX:134428026G>T	ENST00000370766.3	-	3	2750	c.41C>A	c.(40-42)cCc>cAc	p.P14H	ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Missense_Mutation_p.P14H	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	14					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CCCCATCTGGGGGCTTGAGCA	0.483																																						uc004eyp.2		NA																	0					0						c.(40-42)CCC>CAC		zinc finger protein 75							123.0	130.0	128.0					X																	134428026		2203	4300	6503	SO:0001583	missense	7626				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:134428026G>T	S43109	CCDS14648.1, CCDS55503.1	Xq26	2013-01-09	2008-06-11	2008-06-11	ENSG00000186376	ENSG00000186376		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13145	protein-coding gene	gene with protein product		314997	"""zinc finger protein 75 (D8C6)"""	ZNF82, ZNF75		1505955	Standard	XM_005262469		Approved	ZKSCAN24, D8C6, ZSCAN28	uc004eyo.3	P51815	OTTHUMG00000022482	ENST00000370766.3:c.41C>A	X.37:g.134428026G>T	ENSP00000359802:p.Pro14His					ZNF75D_uc004eym.2_Intron|ZNF75D_uc004eyn.2_5'Flank|ZNF75D_uc004eyo.2_Missense_Mutation_p.P14H	p.P14H	NM_007131	NP_009062	P51815	ZN75D_HUMAN			3	2696	-			14					A6NK62|B3KRI7|Q5JPG0|Q6LDE0	Missense_Mutation	SNP	ENST00000370766.3	37	c.41C>A	CCDS14648.1	.	.	.	.	.	.	.	.	.	.	G	6.455	0.452012	0.12283	.	.	ENSG00000186376	ENST00000370766;ENST00000370764	T;T	0.06849	3.25;3.26	2.86	-1.06	0.10002	.	.	.	.	.	T	0.06188	0.0160	L	0.32530	0.975	0.09310	N	1	B;B	0.28512	0.214;0.07	B;B	0.30179	0.112;0.112	T	0.38308	-0.9667	9	0.87932	D	0	.	3.4075	0.07347	0.3991:0.2041:0.3968:0.0	.	14;14	P51815;A6NK62	ZN75D_HUMAN;.	H	14	ENSP00000359802:P14H;ENSP00000359800:P14H	ENSP00000359800:P14H	P	-	2	0	ZNF75D	134255692	0.271000	0.24162	0.000000	0.03702	0.002000	0.02628	1.025000	0.30090	-0.443000	0.07180	-1.427000	0.01099	CCC		0.483	ZNF75D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058415.1	NM_007131		114	143	1	0	8.09e-62	1.12e-61	114	143				
RBMXL1	494115	broad.mit.edu	37	1	89448494	89448495	+	In_Frame_Ins	INS	-	-	CAC			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:89448494_89448495insCAC	ENST00000321792.5	-	2	1442_1443	c.1015_1016insGTG	c.(1015-1017)gac>gGTGac	p.338_339insG	RBMXL1_ENST00000399794.2_In_Frame_Ins_p.338_339insG|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000260508.4_Intron|RBMXL1_ENST00000413769.1_5'Flank|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000370485.2_Intron	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	338	Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										GCCAACCCTGTCACAACTTGAG	0.505																																						uc009wcx.2		NA																	0					0						c.(1015-1017)GAC>GGTGAC		RNA binding motif protein, X-linked-like 1																																				SO:0001652	inframe_insertion	494115						nucleotide binding|RNA binding	g.chr1:89448494_89448495insCAC	BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"""RNA binding motif (RRM) containing"""	25073	protein-coding gene	gene with protein product	"""kynurenine aminotransferase III"""					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.1013_1015dupGTG	1.37:g.89448495_89448497dupCAC	ENSP00000318415:p.Cys338_Asp339insGly					CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc001dms.2_In_Frame_Ins_p.338_339insG	p.338_339insG	NM_001162536	NP_001156008	Q96E39	RBMXL_HUMAN			3	1731_1732	-			338_339			Ser-rich.			In_Frame_Ins	INS	ENST00000321792.5	37	c.1015_1016insGTG	CCDS716.1																																																																																				0.505	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3	NM_019610		12	417	NA	NA	NA	NA	12	417	---	---	---	---
TMEM86A	144110	broad.mit.edu	37	11	18723384	18723386	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr11:18723384_18723386delTCT	ENST00000280734.2	+	3	647_649	c.551_553delTCT	c.(550-555)ctcttc>ctc	p.F186del		NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN	transmembrane protein 86A	186						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						AGTGGTGCACTCTTCTTTATCAT	0.586																																						uc001moz.1		NA																	0				ovary(1)	1						c.(550-555)CTCTTC>CTC		transmembrane protein 86A																																				SO:0001651	inframe_deletion	144110					integral to membrane		g.chr11:18723384_18723386delTCT	BC035692	CCDS7844.1	11p15.1	2005-10-28				ENSG00000151117			26890	protein-coding gene	gene with protein product							Standard	NM_153347		Approved	FLJ90119	uc001moz.1	Q8N2M4		ENST00000280734.2:c.551_553delTCT	11.37:g.18723387_18723389delTCT	ENSP00000280734:p.Phe186del						p.F186del	NM_153347	NP_699178	Q8N2M4	TM86A_HUMAN			3	634_636	+			186			Helical; (Potential).		Q96AJ0	In_Frame_Del	DEL	ENST00000280734.2	37	c.551_553delTCT	CCDS7844.1																																																																																				0.586	TMEM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387812.1	NM_153347		32	69	NA	NA	NA	NA	32	69	---	---	---	---
ADCY4	196883	broad.mit.edu	37	14	24794669	24794670	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr14:24794669_24794670delAG	ENST00000310677.4	-	15	1849_1850	c.1736_1737delCT	c.(1735-1737)tctfs	p.S579fs	ADCY4_ENST00000418030.2_Frame_Shift_Del_p.S579fs|ADCY4_ENST00000554068.2_Frame_Shift_Del_p.S579fs|ADCY4_ENST00000396747.3_Frame_Shift_Del_p.S272fs	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	579					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CGGGGATTGCAGAGAGTCGGTA	0.54																																						uc001wov.2		NA																	0				ovary(1)|lung(1)|pancreas(1)	3						c.(1735-1737)TCTfs		adenylate cyclase 4																																				SO:0001589	frameshift_variant	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24794669_24794670delAG	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.1736_1737delCT	14.37:g.24794673_24794674delAG	ENSP00000312126:p.Ser579fs					ADCY4_uc001wow.2_Frame_Shift_Del_p.S579fs|ADCY4_uc010toh.1_Frame_Shift_Del_p.S265fs|ADCY4_uc001wox.2_Frame_Shift_Del_p.S579fs|ADCY4_uc001woy.2_Frame_Shift_Del_p.S579fs	p.S579fs	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	14	1742_1743	-			579			Cytoplasmic (Potential).		B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Frame_Shift_Del	DEL	ENST00000310677.4	37	c.1736_1737delCT	CCDS9627.1																																																																																				0.540	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			24	62	NA	NA	NA	NA	24	62	---	---	---	---
GEMIN4	50628	broad.mit.edu	37	17	650275	650279	+	Frame_Shift_Del	DEL	GCGGA	GCGGA	-	rs370069577|rs186893279|rs569469700	byFrequency	TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr17:650275_650279delGCGGA	ENST00000319004.5	-	2	1122_1126	c.1004_1008delTCCGC	c.(1003-1008)ctccgcfs	p.LR335fs	GEMIN4_ENST00000576778.1_Frame_Shift_Del_p.LR324fs|GEMIN4_ENST00000437269.1_3'UTR	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	335					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CCTGGCTGCTGCGGAGCACGGCCTG	0.629																																						uc002frs.1		NA																	0				ovary(2)|kidney(1)|skin(1)	4						c.(1003-1008)CTCCGCfs		gemin 4																																				SO:0001589	frameshift_variant	50628				rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding	g.chr17:650275_650279delGCGGA	AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"""HCC-associated protein 1"", ""component of gems 4"""	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.1004_1008delTCCGC	17.37:g.650275_650279delGCGGA	ENSP00000321706:p.Leu335fs					GEMIN4_uc010vqa.1_3'UTR	p.L335fs	NM_015721	NP_056536	P57678	GEMI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	2	1123_1127	-		Myeloproliferative disorder(207;0.204)	335_336					Q9NZS7|Q9UG32|Q9Y4Q2	Frame_Shift_Del	DEL	ENST00000319004.5	37	c.1004_1008delTCCGC	CCDS45559.1																																																																																				0.629	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1	NM_015721		7	164	NA	NA	NA	NA	7	164	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577092	7577092	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr17:7577092delC	ENST00000269305.4	-	8	1035	c.846delG	c.(844-846)cggfs	p.R283fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.R283fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.R283fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Frame_Shift_Del_p.R283fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.R283fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	283	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.R282R(7)|p.R282H(3)|p.?(2)|p.D281fs*63(2)|p.R283fs*63(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.G279fs*59(1)|p.R283del(1)|p.R283_T284>T(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCTCTGTGCGCCGGTCTCTCC	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		34	Whole gene deletion(8)|Substitution - coding silent(7)|Deletion - In frame(6)|Deletion - Frameshift(3)|Substitution - Missense(3)|Insertion - Frameshift(2)|Unknown(2)|Complex - frameshift(2)|Complex - deletion inframe(1)	p.R282W(365)|p.R282G(26)|p.R282Q(20)|p.R282P(14)|p.R282R(8)|p.0?(7)|p.R282L(3)|p.R283fs*63(2)|p.D281fs*63(2)|p.?(2)|p.R282fs*24(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.R283del(1)|p.R282_E287delRRTEEE(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.R282H(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R282fs*63(1)|p.C275fs*20(1)|p.D281_R282delDR(1)	lung(5)|upper_aerodigestive_tract(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|oesophagus(3)|pancreas(3)|large_intestine(2)|central_nervous_system(2)|breast(2)|autonomic_ganglia(2)|stomach(1)|soft_tissue(1)|urinary_tract(1)|ovary(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(844-846)CGGfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							84.0	72.0	76.0					17																	7577092		2203	4300	6503	SO:0001589	frameshift_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577092delC	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.846delG	17.37:g.7577092delC	ENSP00000269305:p.Arg283fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Frame_Shift_Del_p.R282fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.R150fs|TP53_uc010cng.1_Frame_Shift_Del_p.R150fs|TP53_uc002gii.1_Frame_Shift_Del_p.R150fs|TP53_uc010cnh.1_Frame_Shift_Del_p.R282fs|TP53_uc010cni.1_Frame_Shift_Del_p.R282fs|TP53_uc002gij.2_Frame_Shift_Del_p.R282fs	p.R282fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1040	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	282		R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.846delG	CCDS11118.1																																																																																				0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		57	64	NA	NA	NA	NA	57	64	---	---	---	---
MYO7B	4648	broad.mit.edu	37	2	128331588	128331589	+	Frame_Shift_Del	DEL	GC	GC	-	rs377216470		TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:128331588_128331589delGC	ENST00000409816.2	+	6	718_719	c.686_687delGC	c.(685-687)ggcfs	p.G229fs	MYO7B_ENST00000389524.4_Frame_Shift_Del_p.G229fs|MYO7B_ENST00000428314.1_Frame_Shift_Del_p.G229fs			Q6PIF6	MYO7B_HUMAN	myosin VIIB	229	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GTGATCGAGGGCGCGCGCATCG	0.584																																						uc002top.2		NA																	0				ovary(1)|pancreas(1)	2						c.(685-687)GGCfs		myosin VIIB																																				SO:0001589	frameshift_variant	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128331588_128331589delGC		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.686_687delGC	2.37:g.128331594_128331595delGC	ENSP00000386461:p.Gly229fs						p.G229fs	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	7	739_740	+	Colorectal(110;0.1)		229			Myosin head-like.		Q14786|Q8TEE1	Frame_Shift_Del	DEL	ENST00000409816.2	37	c.686_687delGC	CCDS46405.1																																																																																				0.584	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		22	213	NA	NA	NA	NA	22	213	---	---	---	---
NCKAP5	344148	broad.mit.edu	37	2	133542068	133542068	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:133542068delC	ENST00000409261.1	-	14	2689	c.2316delG	c.(2314-2316)aagfs	p.K772fs	NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Frame_Shift_Del_p.K772fs	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	772										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GTTTGACCAGCTTTTGCTGCT	0.423																																						uc002ttp.2		NA																	0					0						c.(2314-2316)AAGfs		Nck-associated protein 5 isoform 1							98.0	98.0	98.0					2																	133542068		1914	4145	6059	SO:0001589	frameshift_variant	344148						protein binding	g.chr2:133542068delC	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.2316delG	2.37:g.133542068delC	ENSP00000387128:p.Lys772fs					NCKAP5_uc002ttq.2_Intron	p.K772fs	NM_207363	NP_997246	O14513	NCKP5_HUMAN			14	2690	-			772					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Frame_Shift_Del	DEL	ENST00000409261.1	37	c.2316delG	CCDS46418.1																																																																																				0.423	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		37	126	NA	NA	NA	NA	37	126	---	---	---	---
KDR	3791	broad.mit.edu	37	4	55976627	55976627	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:55976627delG	ENST00000263923.4	-	9	1493	c.1198delC	c.(1198-1200)cttfs	p.L400fs		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	400	Ig-like C2-type 4.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GGATTGGTAAGGATGACAGTG	0.423			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												uc003has.2		NA		Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			NSCLC|angiosarcoma		0				lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33						c.(1198-1200)CTTfs		kinase insert domain receptor precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						161.0	136.0	144.0					4																	55976627		2203	4300	6503	SO:0001589	frameshift_variant	3791	Familial_Infantile_Hemangioma			angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55976627delG	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.1198delC	4.37:g.55976627delG	ENSP00000263923:p.Leu400fs	TSP Lung(20;0.16)				KDR_uc003hat.1_Frame_Shift_Del_p.L400fs|KDR_uc011bzx.1_Frame_Shift_Del_p.L400fs	p.L400fs	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		9	1500	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		400			Ig-like C2-type 4.|Extracellular (Potential).		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Frame_Shift_Del	DEL	ENST00000263923.4	37	c.1198delC	CCDS3497.1																																																																																				0.423	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			38	125	NA	NA	NA	NA	38	125	---	---	---	---
SMARCAD1	56916	broad.mit.edu	37	4	95200121	95200121	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:95200121delA	ENST00000354268.4	+	19	2411	c.2338delA	c.(2338-2340)aaafs	p.K780fs	SMARCAD1_ENST00000457823.2_Frame_Shift_Del_p.K782fs|SMARCAD1_ENST00000509418.1_Frame_Shift_Del_p.K350fs			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	780					ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		GCAGTTGAGGAAAATGGCCAA	0.338																																						uc003htc.3		NA																	0				skin(2)|ovary(1)|breast(1)	4						c.(2338-2340)AAAfs		SWI/SNF-related, matrix-associated							114.0	108.0	110.0					4																	95200121		2203	4300	6503	SO:0001589	frameshift_variant	56916				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	g.chr4:95200121delA	AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.2338delA	4.37:g.95200121delA	ENSP00000346217:p.Lys780fs					SMARCAD1_uc003htb.3_Frame_Shift_Del_p.K782fs|SMARCAD1_uc003htd.3_Frame_Shift_Del_p.K782fs|SMARCAD1_uc010ila.2_Frame_Shift_Del_p.K645fs|SMARCAD1_uc011cdw.1_Frame_Shift_Del_p.K350fs	p.K780fs	NM_020159	NP_064544	Q9H4L7	SMRCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)	19	2593	+			780					B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Frame_Shift_Del	DEL	ENST00000354268.4	37	c.2338delA	CCDS3639.1																																																																																				0.338	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	NM_020159		14	60	NA	NA	NA	NA	14	60	---	---	---	---
KCNN2	3781	broad.mit.edu	37	5	113829151	113829151	+	Frame_Shift_Del	DEL	T	T	-	rs565040970		TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:113829151delT	ENST00000512097.3	+	8	2452	c.1434delT	c.(1432-1434)actfs	p.T478fs	KCNN2_ENST00000507750.1_3'UTR|KCNN2_ENST00000503706.1_Frame_Shift_Del_p.T130fs|RP11-492A10.1_ENST00000514115.1_RNA|KCNN2_ENST00000264773.3_Frame_Shift_Del_p.T478fs			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	478	Calmodulin-binding. {ECO:0000250}.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	AAGCAAACACTTTGGTGGACT	0.403																																						uc003kqo.2		NA																	0				ovary(2)	2						c.(1432-1434)ACTfs		small conductance calcium-activated potassium							105.0	100.0	102.0					5																	113829151		2202	4300	6502	SO:0001589	frameshift_variant	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113829151delT	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.1434delT	5.37:g.113829151delT	ENSP00000427120:p.Thr478fs					KCNN2_uc003kqp.2_Frame_Shift_Del_p.T130fs|KCNN2_uc010jcg.2_RNA|uc003kqr.1_Intron	p.T478fs	NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	7	1891	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	478			Calmodulin-binding (By similarity).		A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Frame_Shift_Del	DEL	ENST00000512097.3	37	c.1434delT	CCDS4114.1																																																																																				0.403	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		21	64	NA	NA	NA	NA	21	64	---	---	---	---
DLC1	10395	broad.mit.edu	37	8	12955928	12955930	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr8:12955928_12955930delAGA	ENST00000276297.4	-	10	3554_3556	c.3145_3147delTCT	c.(3145-3147)tctdel	p.S1049del	DLC1_ENST00000512044.2_In_Frame_Del_p.S646del|DLC1_ENST00000510318.1_5'Flank|DLC1_ENST00000520226.1_In_Frame_Del_p.S538del|DLC1_ENST00000358919.2_In_Frame_Del_p.S612del	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1049					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CATGCTTGTTAGAAGGTGTGTAT	0.424																																						uc003wwm.2		NA																	0				ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						c.(3145-3147)TCTdel		deleted in liver cancer 1 isoform 1																																				SO:0001651	inframe_deletion	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12955928_12955930delAGA	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.3145_3147delTCT	8.37:g.12955928_12955930delAGA	ENSP00000276297:p.Ser1049del					DLC1_uc003wwk.1_In_Frame_Del_p.S612del|DLC1_uc003wwl.1_In_Frame_Del_p.S646del|DLC1_uc011kxx.1_In_Frame_Del_p.S538del	p.S1049del	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN			10	3589_3591	-			1049					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	In_Frame_Del	DEL	ENST00000276297.4	37	c.3145_3147delTCT	CCDS5989.1																																																																																				0.424	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		51	159	NA	NA	NA	NA	51	159	---	---	---	---
ST18	9705	broad.mit.edu	37	8	53071483	53071483	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr8:53071483delT	ENST00000276480.7	-	15	2464	c.1781delA	c.(1780-1782)aacfs	p.N594fs		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	594					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CTGTGGCTTGTTGGAGAGGAT	0.542																																						uc003xqz.2		NA																	0				ovary(4)|skin(1)	5						c.(1780-1782)AACfs		suppression of tumorigenicity 18							103.0	108.0	106.0					8																	53071483		2203	4300	6503	SO:0001589	frameshift_variant	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53071483delT	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1781delA	8.37:g.53071483delT	ENSP00000276480:p.Asn594fs					ST18_uc011ldq.1_Frame_Shift_Del_p.N241fs|ST18_uc011ldr.1_Frame_Shift_Del_p.N559fs|ST18_uc011lds.1_Frame_Shift_Del_p.N499fs|ST18_uc003xra.2_Frame_Shift_Del_p.N594fs|ST18_uc003xrb.2_Frame_Shift_Del_p.N594fs	p.N594fs	NM_014682	NP_055497	O60284	ST18_HUMAN			10	1937	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	594					Q17RY1	Frame_Shift_Del	DEL	ENST00000276480.7	37	c.1781delA	CCDS6149.1																																																																																				0.542	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			27	340	NA	NA	NA	NA	27	340	---	---	---	---
JPH1	56704	broad.mit.edu	37	8	75233214	75233214	+	Frame_Shift_Del	DEL	G	G	-	rs79761162	byFrequency	TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr8:75233214delG	ENST00000342232.4	-	1	349	c.309delC	c.(307-309)cccfs	p.P103fs		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	103	Gly-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)			CGTAGCGAGCGGGGGTGCACA	0.677																																						uc003yae.2		NA																	0				ovary(1)	1						c.(307-309)CCCfs		junctophilin 1							63.0	42.0	49.0					8																	75233214		2203	4300	6503	SO:0001589	frameshift_variant	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.chr8:75233214delG	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.309delC	8.37:g.75233214delG	ENSP00000344488:p.Pro103fs					JPH1_uc003yaf.2_Frame_Shift_Del_p.P103fs|JPH1_uc003yag.1_Intron	p.P103fs	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		1	349	-	Breast(64;0.00576)		103			Gly-rich.|Cytoplasmic (Potential).		B2RTZ0	Frame_Shift_Del	DEL	ENST00000342232.4	37	c.309delC	CCDS6217.1																																																																																				0.677	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1			43	78	NA	NA	NA	NA	43	78	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139395007	139395008	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr9:139395007_139395008insA	ENST00000277541.6	-	31	6005_6006	c.5930_5931insT	c.(5929-5931)ttcfs	p.F1977fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1977					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)		TGCCTACCTGGAAGACACCTTG	0.683			"""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.(5929-5931)TTCfs		notch1 preproprotein																																				SO:0001589	frameshift_variant	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.chr9:139395007_139395008insA	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.5931dupT	9.37:g.139395009_139395009dupA	ENSP00000277541:p.Phe1977fs	HNSCC(8;0.001)					p.F1977fs	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	31	5930_5931	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1977			ANK 2.|Cytoplasmic (Potential).		Q59ED8|Q5SXM3	Frame_Shift_Ins	INS	ENST00000277541.6	37	c.5930_5931insT	CCDS43905.1																																																																																				0.683	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		67	65	NA	NA	NA	NA	67	65	---	---	---	---
